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Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool.

S0212656716306187

Find your 1%: prevalence and mortality of a community cohort of people with advanced chronic disease and palliative needs

Keywords Palliative care Primary care Community Mortality Prevalence

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. <dis>Dementia</dis> or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. Dementia or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. Dementia or advanced frailty is observed in 49.3%, and only 13.7% have cancer.

S0212656716306187

Find your 1%: prevalence and mortality of a community cohort of people with advanced chronic disease and palliative needs

Keywords Palliative care Primary care Community Mortality Prevalence

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. <dis>Dementia</dis> or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. Dementia or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors.

S0212656716306187

Find your 1%: prevalence and mortality of a community cohort of people with advanced chronic disease and palliative needs

Keywords Palliative care Primary care Community Mortality Prevalence

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. <dis>Dementia</dis> or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. Dementia or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

S0212656716306187

Find your 1%: prevalence and mortality of a community cohort of people with advanced chronic disease and palliative needs

Keywords Palliative care Primary care Community Mortality Prevalence

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. <dis>Dementia</dis> or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Objective To determine the prevalence and profiles of people with advanced chronic diseases in Primary Care and to analyse the elements related to their mortality in order to orient strategies for improvement in this level of care. Design An observational, analytical and prospective study during 3 years conducted on a cohort of patients with palliative needs. Location Three Primary Care teams of Osona (Catalonia). Participants A total of 251 people identified as advanced patients using a systematic population-based strategy that included the NECPAL tool. Main measurements Basic demographic and clinical profile (age, gender, type of residence, health stratification level and main disease); date, place, and cause of eventual deaths. Results 1% of the adult Primary Care population suffer from advanced diseases, of which 56.6% are women, and with a median age of 85 years. Dementia or advanced frailty is observed in 49.3%, and only 13.7% have cancer. Just under one-quarter (24.3%) live in nursing homes. The accumulated mortality at 3 years is 62.1%, with a median survival of 23 months. Factors significantly associated with the likelihood of dying are cancer, female gender, and over-aging. Patients died at their home (47.3%), in an intermediate care hospital (37.2%), or in an acute care hospital (15.5%), depending on certain explanatory factors. Conclusions The prevalence and characteristics of advanced community-based disease coincide with that reported in the literature. Potentially, Primary Care is the reference level of care for these patients, especially if it incorporates nursing homes as a usual field of practice.

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar.

S0210573X08000270

Semilobar holoprosencephaly in 2 successive pregnancies

Keywords Holoprosencephaly Craniofacial malformation Prenatal diagnosis

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar. We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but <dis>mild mental retardation</dis>. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses. Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar. We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but mild mental retardation. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses. Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but mild mental retardation. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses.

S0210573X08000270

Semilobar holoprosencephaly in 2 successive pregnancies

Keywords Holoprosencephaly Craniofacial malformation Prenatal diagnosis

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar. We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but <dis>mild mental retardation</dis>. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses. Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar. We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but mild mental retardation. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses. Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

S0210573X08000270

Semilobar holoprosencephaly in 2 successive pregnancies

Keywords Holoprosencephaly Craniofacial malformation Prenatal diagnosis

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar. We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but <dis>mild mental retardation</dis>. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses. Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

Abstract Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon. Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18. A familial form has occasionally been described. There are three types of HPE: alobar, semilobar and lobar. We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but mild mental retardation. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses. Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE. The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities. Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery. The cerebral sickle showed little development.

Abstract Background Corpus callosum (CC) size has been associated with cognitive and emotional deficits in a range of neuropsychiatric and mood disorders. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior.

S1134593412000309

Suicidal behavior is associated with reduced corpus callosum area

Keywords Corpus callosum Magnetic resonance imaging Suicidal behavior

Abstract Background Corpus callosum (CC) size has been associated with <dis>cognitive and emotional deficits</dis> in a range of <dis>neuropsychiatric and mood disorders</dis>. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals <scp><neg>without</neg> <dis>dementia</dis></scp> from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

Abstract Background Corpus callosum (CC) size has been associated with cognitive and emotional deficits in a range of neuropsychiatric and mood disorders. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals without dementia from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

Methods We studied 435 right-handed individuals without dementia from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234).

S1134593412000309

Suicidal behavior is associated with reduced corpus callosum area

Keywords Corpus callosum Magnetic resonance imaging Suicidal behavior

Abstract Background Corpus callosum (CC) size has been associated with <dis>cognitive and emotional deficits</dis> in a range of <dis>neuropsychiatric and mood disorders</dis>. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals <scp><neg>without</neg> <dis>dementia</dis></scp> from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

Abstract Background Corpus callosum (CC) size has been associated with cognitive and emotional deficits in a range of neuropsychiatric and mood disorders. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals without dementia from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals.

S1134593412000309

Suicidal behavior is associated with reduced corpus callosum area

Keywords Corpus callosum Magnetic resonance imaging Suicidal behavior

Abstract Background Corpus callosum (CC) size has been associated with <dis>cognitive and emotional deficits</dis> in a range of <dis>neuropsychiatric and mood disorders</dis>. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals <scp><neg>without</neg> <dis>dementia</dis></scp> from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

Abstract Background Corpus callosum (CC) size has been associated with cognitive and emotional deficits in a range of neuropsychiatric and mood disorders. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals without dementia from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

S1134593412000309

Suicidal behavior is associated with reduced corpus callosum area

Keywords Corpus callosum Magnetic resonance imaging Suicidal behavior

Abstract Background Corpus callosum (CC) size has been associated with <dis>cognitive and emotional deficits</dis> in a range of <dis>neuropsychiatric and mood disorders</dis>. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals <scp><neg>without</neg> <dis>dementia</dis></scp> from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

Abstract Background Corpus callosum (CC) size has been associated with cognitive and emotional deficits in a range of neuropsychiatric and mood disorders. As such deficits are also found in suicidal behavior, we investigated specifically the association between CC atrophy and suicidal behavior. Methods We studied 435 right-handed individuals without dementia from a cohort of community-dwelling persons aged 65 years and over (the ESPRIT study). They were divided in three groups: suicide attempters (n = 21), affective control subjects (AC) (n = 180) without history of suicide attempt but with a history of depression, and healthy control subjects (HC) (n = 234). T1-weighted magnetic resonance images were traced to measure the midsagittal areas of the anterior, mid, and posterior CC. Multivariate analysis of covariance was used to compare CC areas in the 3 groups. Results Multivariate analyses adjusted for age, gender, childhood trauma, head trauma, and total brain volume showed that the area of the posterior third of CC was significantly smaller in suicide attempters than in AC ( _P_ = .020) and HC ( _P_ = .010) individuals. No significant differences were found between AC and HC. No differences were found for the anterior and mid thirds of the CC. Conclusions Our findings emphasize a reduced size of the posterior third of the CC in subjects with a history of suicide, suggesting a diminished interhemispheric connectivity and a possible role of CC in the pathophysiology of suicidal behavior. Further studies are needed to strengthen these results and clarify the underlying cellular changes leading to these morphometric differences.

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation.

S0001651915001363

Comparative study between unilateral and bilateral cochlear implantation in children of 1 and 2 years of age

Keywords Bilateral cochlear implant Sensorineural hearing loss Residual hearing Spoken language Children

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with <dis>bilateral profound sensorineural hearing loss</dis>, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with bilateral profound sensorineural hearing loss, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Material and methods We present 88 children with bilateral profound sensorineural hearing loss, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests.

S0001651915001363

Comparative study between unilateral and bilateral cochlear implantation in children of 1 and 2 years of age

Keywords Bilateral cochlear implant Sensorineural hearing loss Residual hearing Spoken language Children

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with <dis>bilateral profound sensorineural hearing loss</dis>, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with bilateral profound sensorineural hearing loss, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected.

S0001651915001363

Comparative study between unilateral and bilateral cochlear implantation in children of 1 and 2 years of age

Keywords Bilateral cochlear implant Sensorineural hearing loss Residual hearing Spoken language Children

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with <dis>bilateral profound sensorineural hearing loss</dis>, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with bilateral profound sensorineural hearing loss, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

S0001651915001363

Comparative study between unilateral and bilateral cochlear implantation in children of 1 and 2 years of age

Keywords Bilateral cochlear implant Sensorineural hearing loss Residual hearing Spoken language Children

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with <dis>bilateral profound sensorineural hearing loss</dis>, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Abstract Introduction The studies that have evaluated the effectiveness of bilateral cochlear implantation in children suggest an improvement in hearing about sound localization and speech discrimination. In this paper we show the differences in audio-linguistic achievements with early bilateral cochlear implantation versus unilateral, and differences between simultaneous and sequential bilateral implantation. Material and methods We present 88 children with bilateral profound sensorineural hearing loss, treated with bilateral cochlear implantation in 32 cases and unilateral in 56 cases, during the first 12 months (27 children) of life and between 12 and 24 months (61 children). We conducted a statistical comparison of both groups in the audiometry, IT-Mais, Nottingham, LittlEars scales and verbal tests. Results No significant differences in hearing thresholds and questionnaires between unilateral and bilateral implantation were detected in either the first or second year. Verbal tests do show statistically significant differences: children with bilateral cochlear implant obtain 100% recognition of disyllabic and phrases within 2-3 years after implantation whilst children with one implant do not obtain those results at 5 years after surgery. No differences between simultaneous and sequential bilateral implantation were detected. Conclusion We emphasize the importance of ensuring good early audiological screening, to carry out an early and bilateral cochlear implantation with the consequent development of audio-language skills similar to normal hearing children.

Summary Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported.

S113014730570381X

Xanthogranuloma of the choroid plexus of the third ventricle: case report and literature review

Key words Xanthogranuloma Third ventricle tumour MRI

Summary Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of <dis>gait and urinary disturbances</dis> and <dis>cognitive impairment</dis> is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.

Summary Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.

The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.

S113014730570381X

Xanthogranuloma of the choroid plexus of the third ventricle: case report and literature review

Key words Xanthogranuloma Third ventricle tumour MRI

Summary Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of <dis>gait and urinary disturbances</dis> and <dis>cognitive impairment</dis> is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.

Summary Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to sleep, attention and mood disorders. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts.

S1853002812000237

Fibromyalgia for neurologists. Disputes frequently consulted

Keywords Fibromyalgia Chronic pain

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to <dis>sleep, attention and mood disorders</dis>. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts. The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM. Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to sleep, attention and mood disorders. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts. The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM. Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM.

S1853002812000237

Fibromyalgia for neurologists. Disputes frequently consulted

Keywords Fibromyalgia Chronic pain

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to <dis>sleep, attention and mood disorders</dis>. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts. The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM. Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to sleep, attention and mood disorders. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts. The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM. Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

S1853002812000237

Fibromyalgia for neurologists. Disputes frequently consulted

Keywords Fibromyalgia Chronic pain

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to <dis>sleep, attention and mood disorders</dis>. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts. The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM. Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

Abstract Fibromyalgia (FM) was accepted as an entity by WHO in 1992. Diagnostic criteria were stated initially in 1990 and modified recently in 2010. The clinical feature is characterized by widespread chronic pain in muscles, joints, and in soft tissues and is associated to sleep, attention and mood disorders. Moreover, FM affects functional activities and decrease quality of life and leads to psycho-social conflicts. The course of the disease fluctuates along months to many years. There is a long delay between the onset of the symptoms and its correct diagnosis. FM involves 2 - 4.7% of the general population with a high prevalence in women. Patients feel pain at lesser stimulation intensity than most healthy subjects. Not specific biological marker has been found to diagnose FM, but through brain Functional Magnetic Resonance, focal hyperactivity has been identified, which correlates with clinical features in FM. Different patophysiological mechanisms have been proposed as genetic predisposition and a failure of the central inhibitory pathway of pain. Several authors have objected to that theory and have postulated psychogenic factors as poor pain adaptation. FM treatment includes pregabalin, duloxetine and milnacipran, combined with educational, psychotherapy and gradual physical exercising. This review presents a critic vision of FM aimed at the practitioner Neurologist who assists daily patients with FM.

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke.

S0213485316302080

External validation of the A2SD2 and ISAN scales for predicting infectious respiratory complications of ischaemic stroke

Keywords Ischaemic stroke Respiratory infection Outcome Pneumonia Predictive models

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of <dis>dysphagia</dis>, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were <dis>functionally dependent</dis> before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of dysphagia, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were functionally dependent before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria.

S0213485316302080

External validation of the A2SD2 and ISAN scales for predicting infectious respiratory complications of ischaemic stroke

Keywords Ischaemic stroke Respiratory infection Outcome Pneumonia Predictive models

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of <dis>dysphagia</dis>, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were <dis>functionally dependent</dis> before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of dysphagia, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were functionally dependent before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of dysphagia, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were functionally dependent before stroke; the median NIHSS score was 4 points.

S0213485316302080

External validation of the A2SD2 and ISAN scales for predicting infectious respiratory complications of ischaemic stroke

Keywords Ischaemic stroke Respiratory infection Outcome Pneumonia Predictive models

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of <dis>dysphagia</dis>, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were <dis>functionally dependent</dis> before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of dysphagia, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were functionally dependent before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion.

S0213485316302080

External validation of the A2SD2 and ISAN scales for predicting infectious respiratory complications of ischaemic stroke

Keywords Ischaemic stroke Respiratory infection Outcome Pneumonia Predictive models

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of <dis>dysphagia</dis>, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were <dis>functionally dependent</dis> before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of dysphagia, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were functionally dependent before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

S0213485316302080

External validation of the A2SD2 and ISAN scales for predicting infectious respiratory complications of ischaemic stroke

Keywords Ischaemic stroke Respiratory infection Outcome Pneumonia Predictive models

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of <dis>dysphagia</dis>, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were <dis>functionally dependent</dis> before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Background and purpose. Pneumonia as a complication of stroke is associated with poor outcomes. The A2DS2 and ISAN scales were developed by German and English researchers, respectively, to predict in-hospital stroke-associated pneumonia. We conducted an external validation study of these scales in a series of consecutive patients admitted to our hospital due to ischaemic stroke. Method. These predictive models were applied to a sample of 340 consecutive patients admitted to hospital in 2015 due to stroke. Discrimination was assessed by calculating the area under the ROC curve for diagnostic efficacy. Calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test and graphing the corresponding curve. Logistic regression analysis was performed to determine the independent predictors of respiratory infection secondary to stroke. Results. We included 285 patients, of whom 45 (15.8%) had respiratory infection after stroke according to the study criteria. Mean age was 71.01±12.62 years; men accounted for 177 of the patients (62.1%). Seventy-two patients (25.3%) had signs or symptoms of dysphagia, 42 (14.7%) had atrial fibrillation, and 14 (4.9%) were functionally dependent before stroke; the median NIHSS score was 4 points. Mean scores on A2DS2 and ISAN were 3.25±2.54 and 6.49±3.64, respectively. Our analysis showed that higher A2DS2 scores were associated with an increased risk of infection (OR=1.576; 95% CI: 1.363-1.821); the same was true for ISAN scores (OR=1.350; 95% CI: 1.214-1.501). Conclusion. High scores on A2DS2 and ISAN were found to be a strong predictor of respiratory infection associated with acute stroke in a cohort of consecutive patients with stroke. These easy-to-use scales are promising tools for predicting this complication in routine clinical practice.

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods.

S0213485316301748

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area

Keywords Transthyretin Hereditary amyloid polyneuropathy Val50Met (Val30Met) Amyloid

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and <dis>dysautonomia</dis>. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life <scp>with <neg>no signs</neg> of <dis>dysautonomia</dis></scp>. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and dysautonomia. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life with no signs of dysautonomia. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement.

S0213485316301748

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area

Keywords Transthyretin Hereditary amyloid polyneuropathy Val50Met (Val30Met) Amyloid

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and <dis>dysautonomia</dis>. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life <scp>with <neg>no signs</neg> of <dis>dysautonomia</dis></scp>. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and dysautonomia. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life with no signs of dysautonomia. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and dysautonomia. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation.

S0213485316301748

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area

Keywords Transthyretin Hereditary amyloid polyneuropathy Val50Met (Val30Met) Amyloid

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and <dis>dysautonomia</dis>. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life <scp>with <neg>no signs</neg> of <dis>dysautonomia</dis></scp>. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and dysautonomia. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life with no signs of dysautonomia. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life with no signs of dysautonomia. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

S0213485316301748

Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area

Keywords Transthyretin Hereditary amyloid polyneuropathy Val50Met (Val30Met) Amyloid

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and <dis>dysautonomia</dis>. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life <scp>with <neg>no signs</neg> of <dis>dysautonomia</dis></scp>. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

Introduction. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. It progresses rapidly and can lead to death in approximately 10 years. Other phenotypes have been described in non-endemic areas. Objectives and methods. We described 4 cases from the Spanish province of Guipuzcoa, a non-endemic area, to highlight the clinical variability of this disease. Patients and results. Three patients presented a late-onset form manifesting after the age of 50, featuring a predominantly motor polyneuropathy initially causing distal impairment of the lower limbs followed by the upper limbs. One patient suffered severe neuropathic pain. None showed signs of autonomic involvement. The fourth patient, of Portuguese descent, presented a typical form with onset in her thirties, neuropathic pain and dysautonomia. All patients carry the Val50Met mutation in the TTR gene. Conclusion. FAP is a pleomorphic disease even in patients carrying the same mutation. In non-endemic areas, its main form of presentation may resemble a predominantly motor polyneuropathy developing in the sixth decade of life with no signs of dysautonomia. Given this non-specific presentation and the widely available technical means of studying the TTR gene, we believe that the protocol for the aetiological diagnosis of any polyneuropathy should include genetic sequencing of TTR.

Abstract Like anyone else, people with Down syndrome can suffer mental health problems that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.

S1138207410700671

Depression and Down syndrome

Keywords Depression Down syndrome Affective disorders Psychotherapy

Abstract Like anyone else, people with Down syndrome can suffer <dis>mental health problems</dis> that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.

Abstract Like anyone else, people with Down syndrome can suffer mental health problems that require diagnosis, treatment and prevention. The higher number of depressions seen in recent years is a cause for concern and must be taken on by health professionals and families. Depression is difficult to diagnose in people with Down syndrome as its symptoms can be mistaken with those of other conditions. This paper sets out to define depression, highlight the specific manifestation of symptoms and give guidelines on how it can be diagnosed and treated. Importance is also placed on prevention.

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the absence of elementary sensory or motor disorders. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are attentional disturbances, perceptual deficits and somatosensorial disabilities.

S0048712011000284

Evaluation and prognosis of a case of unilateral neglect: Longitudinal study with the Behavioural Inattention Test

Keywords Acquired brain injury Behavioural Inattention Test Diagnosis Evolution Neurorehabilitation Unilateral neglect

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the <scp><neg>absence of</neg> <dis>elementary sensory or motor disorders</dis></scp>. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are <dis>attentional disturbances</dis>, <dis>perceptual deficits</dis> and <dis>somatosensorial disabilities</dis>. We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had <dis>severe motor and functional deficits</dis>, associated with an <dis>intense attentional deficit</dis> in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up. Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the absence of elementary sensory or motor disorders. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are attentional disturbances, perceptual deficits and somatosensorial disabilities. We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had severe motor and functional deficits, associated with an intense attentional deficit in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up. Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had severe motor and functional deficits, associated with an intense attentional deficit in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up.

S0048712011000284

Evaluation and prognosis of a case of unilateral neglect: Longitudinal study with the Behavioural Inattention Test

Keywords Acquired brain injury Behavioural Inattention Test Diagnosis Evolution Neurorehabilitation Unilateral neglect

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the <scp><neg>absence of</neg> <dis>elementary sensory or motor disorders</dis></scp>. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are <dis>attentional disturbances</dis>, <dis>perceptual deficits</dis> and <dis>somatosensorial disabilities</dis>. We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had <dis>severe motor and functional deficits</dis>, associated with an <dis>intense attentional deficit</dis> in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up. Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the absence of elementary sensory or motor disorders. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are attentional disturbances, perceptual deficits and somatosensorial disabilities. We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had severe motor and functional deficits, associated with an intense attentional deficit in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up. Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

S0048712011000284

Evaluation and prognosis of a case of unilateral neglect: Longitudinal study with the Behavioural Inattention Test

Keywords Acquired brain injury Behavioural Inattention Test Diagnosis Evolution Neurorehabilitation Unilateral neglect

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the <scp><neg>absence of</neg> <dis>elementary sensory or motor disorders</dis></scp>. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are <dis>attentional disturbances</dis>, <dis>perceptual deficits</dis> and <dis>somatosensorial disabilities</dis>. We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had <dis>severe motor and functional deficits</dis>, associated with an <dis>intense attentional deficit</dis> in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up. Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

Abstract The unilateral neglect syndrome is defined as the inability or difficulty to identify, refer, orient or respond to stimuli presented contralaterally to a brain injury in the absence of elementary sensory or motor disorders. This syndrome is often associated with right parietal lesions, and the most frequent manifestations are attentional disturbances, perceptual deficits and somatosensorial disabilities. We present the case of a 64-year old male suffering from an acute ischemic stroke affecting the complete territory of the right middle cerebral artery. After the stroke, the patient had severe motor and functional deficits, associated with an intense attentional deficit in the context of a left unilateral neglect. We carried out a longitudinal study using the Behavioral Inattentional Test to measure the clinical course during a one-year follow-up. Our goal has been to show the sequence of clinical, cognitive and functional changes as well as the response of cases having similar severity to our case presented herein to specific rehabilitation programs.

Abstract Cognitive impairment may compromise driving skills and represent a public health risk by increasing traffic accidents. Mild Cognitive Impairment and Dementia are characterized by cognitive impairment affecting to a greater or lesser degree the instrumental activities of daily living and fitness to drive.

S1853002813000645

Clinical practice guideline. Fitness to drive in cognitive impairment and dementia

Keywords Cognitive impairment Dementia Fitness to drive

Abstract <dis>Cognitive impairment</dis> may compromise driving skills and represent a public health risk by increasing traffic accidents. <dis>Mild Cognitive Impairment</dis> and <dis>Dementia</dis> are characterized by <dis>cognitive impairment</dis> affecting to a greater or lesser degree the instrumental activities of daily living and fitness to drive. The Argentine Neurologic Society Working Group on Behavioural Neurology and Cognitive Neurosciences has prepared this clinical practice guideline to help physicians evaluate patients suspected to present <dis>cognitive impairment</dis> or <dis>dementia</dis> and detect and prevent risky behaviors.

Abstract Cognitive impairment may compromise driving skills and represent a public health risk by increasing traffic accidents. Mild Cognitive Impairment and Dementia are characterized by cognitive impairment affecting to a greater or lesser degree the instrumental activities of daily living and fitness to drive. The Argentine Neurologic Society Working Group on Behavioural Neurology and Cognitive Neurosciences has prepared this clinical practice guideline to help physicians evaluate patients suspected to present cognitive impairment or dementia and detect and prevent risky behaviors.

The Argentine Neurologic Society Working Group on Behavioural Neurology and Cognitive Neurosciences has prepared this clinical practice guideline to help physicians evaluate patients suspected to present cognitive impairment or dementia and detect and prevent risky behaviors.

S1853002813000645

Clinical practice guideline. Fitness to drive in cognitive impairment and dementia

Keywords Cognitive impairment Dementia Fitness to drive

Abstract <dis>Cognitive impairment</dis> may compromise driving skills and represent a public health risk by increasing traffic accidents. <dis>Mild Cognitive Impairment</dis> and <dis>Dementia</dis> are characterized by <dis>cognitive impairment</dis> affecting to a greater or lesser degree the instrumental activities of daily living and fitness to drive. The Argentine Neurologic Society Working Group on Behavioural Neurology and Cognitive Neurosciences has prepared this clinical practice guideline to help physicians evaluate patients suspected to present <dis>cognitive impairment</dis> or <dis>dementia</dis> and detect and prevent risky behaviors.

Abstract Cognitive impairment may compromise driving skills and represent a public health risk by increasing traffic accidents. Mild Cognitive Impairment and Dementia are characterized by cognitive impairment affecting to a greater or lesser degree the instrumental activities of daily living and fitness to drive. The Argentine Neurologic Society Working Group on Behavioural Neurology and Cognitive Neurosciences has prepared this clinical practice guideline to help physicians evaluate patients suspected to present cognitive impairment or dementia and detect and prevent risky behaviors.

Perinatal arterial stroke is a significant cause of neurological deficit, including mental retardation, delayed motor development, epilepsy, and severe cognitive impairment. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases.

S1695403306700820

Arterial stroke after birth trauma

Key words Newborn Infarction Convulsion Thrombophilia Cerebral palsy

Perinatal arterial stroke is a significant cause of neurological deficit, including <dis>mental retardation</dis>, <dis>delayed motor development</dis>, epilepsy, and <dis>severe cognitive impairment</dis>. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.

Perinatal arterial stroke is a significant cause of neurological deficit, including mental retardation, delayed motor development, epilepsy, and severe cognitive impairment. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.

An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.

S1695403306700820

Arterial stroke after birth trauma

Key words Newborn Infarction Convulsion Thrombophilia Cerebral palsy

Perinatal arterial stroke is a significant cause of neurological deficit, including <dis>mental retardation</dis>, <dis>delayed motor development</dis>, epilepsy, and <dis>severe cognitive impairment</dis>. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.

Perinatal arterial stroke is a significant cause of neurological deficit, including mental retardation, delayed motor development, epilepsy, and severe cognitive impairment. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with sudden hearing loss, (iii) if there is a correlation between tumor size and hearing loss, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN.

S0001651906787258

Clinical tumoral size dissociation in acoustic neuroma: reality o measure distortion?

Key words Acoustic neuroma Hearing loss Tumor size Facial palsy

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with <dis>sudden hearing loss</dis>, (iii) if there is a correlation between tumor size and <dis>hearing loss</dis>, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN. Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and <dis>sudden hearing loss</dis> was 2.5% and 9%, respectively. No significant association was found between tumor size and <dis>hearing loss</dis>, preoperative facial palsy or Vth cranial nerve deficit. There was a significant association between the degree of <dis>hearing loss</dis> and Vth cranial nerve deficit, and between <dis>hearing loss</dis> and preoperative facial palsy. Conclusions The association between <dis>hearing loss</dis> and Vth cranial nerve deficit, and between <dis>hearing loss</dis> and preoperative facial palsy is independent the size of the tumour.

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with sudden hearing loss, (iii) if there is a correlation between tumor size and hearing loss, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN. Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and sudden hearing loss was 2.5% and 9%, respectively. No significant association was found between tumor size and hearing loss, preoperative facial palsy or Vth cranial nerve deficit. There was a significant association between the degree of hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy. Conclusions The association between hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy is independent the size of the tumour.

Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and sudden hearing loss was 2.5% and 9%, respectively. No significant association was found between tumor size and hearing loss, preoperative facial palsy or Vth cranial nerve deficit.

S0001651906787258

Clinical tumoral size dissociation in acoustic neuroma: reality o measure distortion?

Key words Acoustic neuroma Hearing loss Tumor size Facial palsy

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with <dis>sudden hearing loss</dis>, (iii) if there is a correlation between tumor size and <dis>hearing loss</dis>, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN. Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and <dis>sudden hearing loss</dis> was 2.5% and 9%, respectively. No significant association was found between tumor size and <dis>hearing loss</dis>, preoperative facial palsy or Vth cranial nerve deficit. There was a significant association between the degree of <dis>hearing loss</dis> and Vth cranial nerve deficit, and between <dis>hearing loss</dis> and preoperative facial palsy. Conclusions The association between <dis>hearing loss</dis> and Vth cranial nerve deficit, and between <dis>hearing loss</dis> and preoperative facial palsy is independent the size of the tumour.

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with sudden hearing loss, (iii) if there is a correlation between tumor size and hearing loss, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN. Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and sudden hearing loss was 2.5% and 9%, respectively. No significant association was found between tumor size and hearing loss, preoperative facial palsy or Vth cranial nerve deficit. There was a significant association between the degree of hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy. Conclusions The association between hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy is independent the size of the tumour.

There was a significant association between the degree of hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy. Conclusions The association between hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy is independent the size of the tumour.

S0001651906787258

Clinical tumoral size dissociation in acoustic neuroma: reality o measure distortion?

Key words Acoustic neuroma Hearing loss Tumor size Facial palsy

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with <dis>sudden hearing loss</dis>, (iii) if there is a correlation between tumor size and <dis>hearing loss</dis>, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN. Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and <dis>sudden hearing loss</dis> was 2.5% and 9%, respectively. No significant association was found between tumor size and <dis>hearing loss</dis>, preoperative facial palsy or Vth cranial nerve deficit. There was a significant association between the degree of <dis>hearing loss</dis> and Vth cranial nerve deficit, and between <dis>hearing loss</dis> and preoperative facial palsy. Conclusions The association between <dis>hearing loss</dis> and Vth cranial nerve deficit, and between <dis>hearing loss</dis> and preoperative facial palsy is independent the size of the tumour.

Abstract Introduction In this study we have analyzed (i) the audiometric frequencies more often affected in acoustic neuroma (AN), (ii) the percentage of patients presenting normal hearing and those with sudden hearing loss, (iii) if there is a correlation between tumor size and hearing loss, and (iv) the relationship between clinical and radiological parameters and audiological data. Methods and Material Retrospective study of 81 patients undergoing surgical removal of a sporadic AN. Results The highest threshold in the tumor´s ear was found at 8000 Hz, and the highest interaural difference at 4000 Hz. The percentage of patients presenting normal hearing and sudden hearing loss was 2.5% and 9%, respectively. No significant association was found between tumor size and hearing loss, preoperative facial palsy or Vth cranial nerve deficit. There was a significant association between the degree of hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy. Conclusions The association between hearing loss and Vth cranial nerve deficit, and between hearing loss and preoperative facial palsy is independent the size of the tumour.

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with progressive hearing loss and to analize various predictive factors. Material and methods Prospective study of 42 patients with profound and progressive hearing loss. We analized the outcomes in the first two years of follow-up.

S0001651904785544

Cochlear implant in postlingual adults with progressive hearing loss

Key words Cochlear implants Postlocutive adults Progressive hearing loss Postlocutive hearing loss

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with <dis>progressive hearing loss</dis> and to analize various predictive factors. Material and methods Prospective study of 42 patients with <dis>profound and progressive hearing loss</dis>. We analized the outcomes in the first two years of follow-up. We examined the results in regards to the of age at time of implantation, other handicaps, cause of <dis>hearing loss</dis>, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant. The more important predictive factors were percentage of life with <dis>hearing loss</dis>, percentage of life with <dis>profound hearing loss</dis>, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with progressive hearing loss and to analize various predictive factors. Material and methods Prospective study of 42 patients with profound and progressive hearing loss. We analized the outcomes in the first two years of follow-up. We examined the results in regards to the of age at time of implantation, other handicaps, cause of hearing loss, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant. The more important predictive factors were percentage of life with hearing loss, percentage of life with profound hearing loss, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

We examined the results in regards to the of age at time of implantation, other handicaps, cause of hearing loss, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant.

S0001651904785544

Cochlear implant in postlingual adults with progressive hearing loss

Key words Cochlear implants Postlocutive adults Progressive hearing loss Postlocutive hearing loss

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with <dis>progressive hearing loss</dis> and to analize various predictive factors. Material and methods Prospective study of 42 patients with <dis>profound and progressive hearing loss</dis>. We analized the outcomes in the first two years of follow-up. We examined the results in regards to the of age at time of implantation, other handicaps, cause of <dis>hearing loss</dis>, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant. The more important predictive factors were percentage of life with <dis>hearing loss</dis>, percentage of life with <dis>profound hearing loss</dis>, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with progressive hearing loss and to analize various predictive factors. Material and methods Prospective study of 42 patients with profound and progressive hearing loss. We analized the outcomes in the first two years of follow-up. We examined the results in regards to the of age at time of implantation, other handicaps, cause of hearing loss, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant. The more important predictive factors were percentage of life with hearing loss, percentage of life with profound hearing loss, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

The more important predictive factors were percentage of life with hearing loss, percentage of life with profound hearing loss, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

S0001651904785544

Cochlear implant in postlingual adults with progressive hearing loss

Key words Cochlear implants Postlocutive adults Progressive hearing loss Postlocutive hearing loss

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with <dis>progressive hearing loss</dis> and to analize various predictive factors. Material and methods Prospective study of 42 patients with <dis>profound and progressive hearing loss</dis>. We analized the outcomes in the first two years of follow-up. We examined the results in regards to the of age at time of implantation, other handicaps, cause of <dis>hearing loss</dis>, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant. The more important predictive factors were percentage of life with <dis>hearing loss</dis>, percentage of life with <dis>profound hearing loss</dis>, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

Abstract Objectives To analize the results of patients with cohlear implants in postlingual adults with progressive hearing loss and to analize various predictive factors. Material and methods Prospective study of 42 patients with profound and progressive hearing loss. We analized the outcomes in the first two years of follow-up. We examined the results in regards to the of age at time of implantation, other handicaps, cause of hearing loss, age of onset, cochlear ossification and actives electrodes. We use the logo-auditory protocol developed at the University Spanish of navarra. Results All tests presented a significative improvement in the first six months (p<0.01 Student t or Wilcoxon test). After six months the results were not statistically significant. The more important predictive factors were percentage of life with hearing loss, percentage of life with profound hearing loss, cochlear ossification and actives electrodes thus the significancy was more relevant at a follow-up period of 3 months (p<0.05 Student t or Mann- Withney test). Conclusions These patients showed clear benefits in a short period of time and the patients with unfavourable circumstances had a more slow progression but a similar final outcome

Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss.

S0001651911000574

Mondini deformity in a case of Turner syndrome. A radiological finding

Keywords Mondini deformity Turner syndrome Cochlear malformation

Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. <dis>Progressive sensorineural hearing loss</dis> is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented <dis>progressive sensorineural hearing loss</dis>. The computed tomography of the ears showed bilateral Mondini deformity.

Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity.

The computed tomography of the ears showed bilateral Mondini deformity.

S0001651911000574

Mondini deformity in a case of Turner syndrome. A radiological finding

Keywords Mondini deformity Turner syndrome Cochlear malformation

Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. <dis>Progressive sensorineural hearing loss</dis> is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented <dis>progressive sensorineural hearing loss</dis>. The computed tomography of the ears showed bilateral Mondini deformity.

Abstract Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity.

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin.

S0211139X06729572

Nonagarians’ response to multidisciplinary rehabilitation in a medium-stay geriatric unit

Key words Nonagenarian Rehabilitation Geriatric assessment

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and <scp><neg>absence of</neg> <dis>severe functional and cognitive impairment</dis> at admission</scp> (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women.

S0211139X06729572

Nonagarians’ response to multidisciplinary rehabilitation in a medium-stay geriatric unit

Key words Nonagenarian Rehabilitation Geriatric assessment

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and <scp><neg>absence of</neg> <dis>severe functional and cognitive impairment</dis> at admission</scp> (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission.

S0211139X06729572

Nonagarians’ response to multidisciplinary rehabilitation in a medium-stay geriatric unit

Key words Nonagenarian Rehabilitation Geriatric assessment

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and <scp><neg>absence of</neg> <dis>severe functional and cognitive impairment</dis> at admission</scp> (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively).

S0211139X06729572

Nonagarians’ response to multidisciplinary rehabilitation in a medium-stay geriatric unit

Key words Nonagenarian Rehabilitation Geriatric assessment

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and <scp><neg>absence of</neg> <dis>severe functional and cognitive impairment</dis> at admission</scp> (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

S0211139X06729572

Nonagarians’ response to multidisciplinary rehabilitation in a medium-stay geriatric unit

Key words Nonagenarian Rehabilitation Geriatric assessment

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and <scp><neg>absence of</neg> <dis>severe functional and cognitive impairment</dis> at admission</scp> (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of <dis>functional impairment</dis> also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Abstract Objective to determine the clinical, functional and mental characteristics of nonagenarians admitted to a medium-stay geriatric unit for hospital-based rehabilitation and to review outcomes at dischargeand 1 year later. Patients and method we performed a longitudinal observational study of nonagenarians consecutively hospitalised in a medium-stay geriatric unit over a 16-month period. On admission, the variables collected were diagnoses, functional and cognitive status, household composition, comorbidity, and serum albumin. The global and relative functional gain and rate of institutionalization at discharge were also evaluated. After 12 months, the patients were telephoned to establish mortality, functional status, and new admissions. Results the mean age of the 51 patients studied was 92.06 (SD 2.42) years and 75% were women. The mean functional gain at discharge was 23.27 (SD 14.06) in the Barthel Index (BI), with a relative functional gain of 45.4% from impairment at admission. At 1 year 31% of the patients were alive and living at home and showed a functional gain of ≥ 20 in the BI from admission. These outcomes increased to 59% in patients with better functional status before admission (previous BI ≥ 80) and absence of severe functional and cognitive impairment at admission (BI < 20 and Pfeiffer ≥ 5 at admission, respectively). Conclusions nonagenarians with recent onset of functional impairment also benefit from rehabilitation in a medium-stay geriatric unit; those with better functional and cognitive status can achieve results similar to those in younger patients.

Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL.

S0185106316300798

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Keywords GJB2 gene Hypoacusia Gene mutations Connexins Homozygous

Abstract Background <dis>Sensorineural hearing loss</dis> (<dis>SNHL</dis>) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of <dis>hereditary SNHL</dis>. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in <dis>SNHL</dis>. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with <dis>SNHL</dis>. Materials and methods A Mexican family with <dis>SNHL</dis> was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls.

S0185106316300798

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Keywords GJB2 gene Hypoacusia Gene mutations Connexins Homozygous

Abstract Background <dis>Sensorineural hearing loss</dis> (<dis>SNHL</dis>) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of <dis>hereditary SNHL</dis>. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in <dis>SNHL</dis>. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with <dis>SNHL</dis>. Materials and methods A Mexican family with <dis>SNHL</dis> was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

S0185106316300798

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Keywords GJB2 gene Hypoacusia Gene mutations Connexins Homozygous

Abstract Background <dis>Sensorineural hearing loss</dis> (<dis>SNHL</dis>) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of <dis>hereditary SNHL</dis>. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in <dis>SNHL</dis>. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with <dis>SNHL</dis>. Materials and methods A Mexican family with <dis>SNHL</dis> was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the _GJB2_ gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the _GJB2_ gene worldwide highlights the participation of ethnic background in SNHL. Objective To describe the presence of homozygous c.del35G mutation in the _GJB2_ gene in a Mexican family with SNHL. Materials and methods A Mexican family with SNHL was included in the study. Analysis of the _GJB2_ gene was performed through whole exome sequencing (WES) and DNA direct sequencing analysis in all members of the family and in 100 normal controls. Results Affected sibs showed the homozygous c.del35G mutation in the _GJB2_ gene. Parents of the families were heterozygous for the molecular defect and had normal audition. Conclusion We describe a homozygous c.del35G mutation in the _GJB2_ gene through WES analysis, a homozygous mutation with a very low occurrence in Mexican population.

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation.

S0025775307725149

Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin

Key words Dyggve-Melchior-Clausen syndrome (DMC) Smith-McCort syndrome (SMC) Mutations Haplotype

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and <dis>variable mental retardation</dis>. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome.

S0025775307725149

Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin

Key words Dyggve-Melchior-Clausen syndrome (DMC) Smith-McCort syndrome (SMC) Mutations Haplotype

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and <dis>variable mental retardation</dis>. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors).

S0025775307725149

Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin

Key words Dyggve-Melchior-Clausen syndrome (DMC) Smith-McCort syndrome (SMC) Mutations Haplotype

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and <dis>variable mental retardation</dis>. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

S0025775307725149

Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin

Key words Dyggve-Melchior-Clausen syndrome (DMC) Smith-McCort syndrome (SMC) Mutations Haplotype

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and <dis>variable mental retardation</dis>. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

Background and objective The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is extremely rare and the diagnosis is difficult without any previous experience on it. It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported. Material and methods We describe an affected Spanish child and include his molecular analysis. We also review the current knowledge on this syndrome. Results The diagnosis of this patient, based on his clinical and radiological features, was later confirmed by analysis of the DYM gene mutations. The patient had two different mutations, one inherited from the mother and the other inherited from the father. Conclusions One of the mutations of this patient (exon 8) is extremely rare and has mostly been reported in patients with Spanish ancestors (from Chile, Argentina, Guam islands and a French patient with Spanish ancestors). These observations, together with that of the patient described here, led us to consider this mutation as having a possible Spanish/Portuguese origin. This condition may be more frequent in Spain than previously thought, especially due to misdiagnosis. This is important in order to undertake quaternary prevention, which is quite necessary for rare syndromes with polysystemic affectation.

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status.

S0211563807744103

Review of treatment on Multiple Sclerosis patients

Key words Multiple Sclerosis Spasticity Weakness Ataxia Gait disorders Fatigue

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status. Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, <dis>ataxia</dis>, fatigue and <dis>gait disturbances</dis>, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality. It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status. Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, ataxia, fatigue and gait disturbances, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality. It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, ataxia, fatigue and gait disturbances, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality.

S0211563807744103

Review of treatment on Multiple Sclerosis patients

Key words Multiple Sclerosis Spasticity Weakness Ataxia Gait disorders Fatigue

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status. Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, <dis>ataxia</dis>, fatigue and <dis>gait disturbances</dis>, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality. It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status. Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, ataxia, fatigue and gait disturbances, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality. It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

S0211563807744103

Review of treatment on Multiple Sclerosis patients

Key words Multiple Sclerosis Spasticity Weakness Ataxia Gait disorders Fatigue

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status. Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, <dis>ataxia</dis>, fatigue and <dis>gait disturbances</dis>, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality. It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

Abstract Multiple Sclerosis (MS) is an inflamatory and demyelinative disease which affects central nervous system myelin. The most characteristic clinic in MS is its variability, with signs and symptoms depending on the localitation of the injuries which can appear in all neuroaxis. Today there isn’t a healing therapy in MS. Thats why physiotherapy acquires an important value to maintain and/or improve the patient functional status. Physiotherapist must adapt the treatment to the patient all the time, attending the disturbances which can appear when the disease progress. The most common symptoms, spasticity, weakness, ataxia, fatigue and gait disturbances, will appear in a great number of patients with MS. The physiotherapist role is to reduce these injuries through kynesitherapy and neurological physiotherapy techniques, in order to maintain an acceptable patient's life quality. It has been done a review in these data bases: Medline, Embasse, IME, Cinhal, Cochrane of all publicated articles between 1987-2005 with these keywords: multiple sclerosis, physiotherapy, rehabilitation, spasticity, and in books which are related with the theme.

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008.

S0001651910001019

Complications of endoscopic sinus surgery in a residency training program

Keywords Endoscopic sinus surgery Nasal polyps Residency training program Complications

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of <dis>blindness</dis>, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of blindness, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old.

S0001651910001019

Complications of endoscopic sinus surgery in a residency training program

Keywords Endoscopic sinus surgery Nasal polyps Residency training program Complications

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of <dis>blindness</dis>, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of blindness, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications.

S0001651910001019

Complications of endoscopic sinus surgery in a residency training program

Keywords Endoscopic sinus surgery Nasal polyps Residency training program Complications

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of <dis>blindness</dis>, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of blindness, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of blindness, cerebrospinal fluid rhinorrhea, or death.

S0001651910001019

Complications of endoscopic sinus surgery in a residency training program

Keywords Endoscopic sinus surgery Nasal polyps Residency training program Complications

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of <dis>blindness</dis>, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of blindness, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

S0001651910001019

Complications of endoscopic sinus surgery in a residency training program

Keywords Endoscopic sinus surgery Nasal polyps Residency training program Complications

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of <dis>blindness</dis>, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Abstract Introduction Endoscopic sinus surgery presents a series of complications that can vary depending on the technique used and the surgeon's experience. This technique needs a learning curve, which must be developed during the residence training program. Methods Descriptive and retrospective study, reviewing the medical records of endoscopic sinus surgery for nasal polyps of 192 patients who had undergone operations performed by residents at our department between January 2002 and January 2008. Patient sex, age, affectation scale and minor and major complications were described. All these procedures were performed by 3rd or 4th-year residents under the supervision of a faculty member. Results Of the 192 patients, 127 (66.14%) were male and 65 (33.85%) female, aged between 24 and 78 years old, with a mean age of 49 years old. Nasal endoscopy revealed polyposis of grade i, 19 (9.8%) cases; grade ii, 55 (28.6%); and grade iii, 118 (61.45%). There were 44 (22.9%) total complications, 40 (20.8%) minor and 4 (2.08%) major complications. The most common minor complication was synechia formation in 21(10.93%) cases, followed by bleeding without need for transfusion in 12 (6.25%). The major complication was a breach of the lamina papyracea in 4 patients (2.08%). There were no cases of blindness, cerebrospinal fluid rhinorrhea, or death. Conclusions Endoscopic sinus surgery in an otolaryngology residency training program is a relatively safe procedure, especially when performed under faculty supervision.

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, feeding difficulties, developmental delay, and genital hypoplasia. In adolescence and adulthood, problems are centered on behavioral disorders, absence of satiety, and mild to moderate mental retardation.

S1575092206710865

Overall management of prader-willi syndrome in adulthood

Key words PWS Prader-Willi syndrome Adulthood

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, <dis>feeding difficulties</dis>, <dis>developmental delay</dis>, and genital hypoplasia. In adolescence and adulthood, problems are centered on <dis>behavioral disorders</dis>, absence of satiety, and <dis>mild to moderate mental retardation</dis>. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, <dis>sleep disorders</dis>, hypogonadism, osteoporosis, and <dis>behavioral and psychiatric disorders</dis>.

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, feeding difficulties, developmental delay, and genital hypoplasia. In adolescence and adulthood, problems are centered on behavioral disorders, absence of satiety, and mild to moderate mental retardation. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.

In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS.

S1575092206710865

Overall management of prader-willi syndrome in adulthood

Key words PWS Prader-Willi syndrome Adulthood

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, <dis>feeding difficulties</dis>, <dis>developmental delay</dis>, and genital hypoplasia. In adolescence and adulthood, problems are centered on <dis>behavioral disorders</dis>, absence of satiety, and <dis>mild to moderate mental retardation</dis>. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, <dis>sleep disorders</dis>, hypogonadism, osteoporosis, and <dis>behavioral and psychiatric disorders</dis>.

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, feeding difficulties, developmental delay, and genital hypoplasia. In adolescence and adulthood, problems are centered on behavioral disorders, absence of satiety, and mild to moderate mental retardation. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.

The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.

S1575092206710865

Overall management of prader-willi syndrome in adulthood

Key words PWS Prader-Willi syndrome Adulthood

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, <dis>feeding difficulties</dis>, <dis>developmental delay</dis>, and genital hypoplasia. In adolescence and adulthood, problems are centered on <dis>behavioral disorders</dis>, absence of satiety, and <dis>mild to moderate mental retardation</dis>. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, <dis>sleep disorders</dis>, hypogonadism, osteoporosis, and <dis>behavioral and psychiatric disorders</dis>.

Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, feeding difficulties, developmental delay, and genital hypoplasia. In adolescence and adulthood, problems are centered on behavioral disorders, absence of satiety, and mild to moderate mental retardation. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.

Abstract This review focuses on the neuropsychiatric manifestations (personality disturbances, depressive symptoms, cognitive impairment and dementia), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature.

S0025775311004362

Neuropsychiatric disturbances in essential tremor

Keywords Essential tremor Emotional dysfunction Cognitive dysfunction Dementia Mild cognitive impairment Neurologic manifestations Cerebellar disorder Neurodegeneration

Abstract This review focuses on the neuropsychiatric manifestations (<dis>personality disturbances</dis>, depressive symptoms, <dis>cognitive impairment</dis> and <dis>dementia</dis>), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., <dis>ataxic gait</dis>). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with <dis>mild cognitive impairment</dis> and <dis>dementia</dis>. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Abstract This review focuses on the neuropsychiatric manifestations (personality disturbances, depressive symptoms, cognitive impairment and dementia), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., ataxic gait). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., ataxic gait). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies.

S0025775311004362

Neuropsychiatric disturbances in essential tremor

Keywords Essential tremor Emotional dysfunction Cognitive dysfunction Dementia Mild cognitive impairment Neurologic manifestations Cerebellar disorder Neurodegeneration

Abstract This review focuses on the neuropsychiatric manifestations (<dis>personality disturbances</dis>, depressive symptoms, <dis>cognitive impairment</dis> and <dis>dementia</dis>), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., <dis>ataxic gait</dis>). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with <dis>mild cognitive impairment</dis> and <dis>dementia</dis>. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Abstract This review focuses on the neuropsychiatric manifestations (personality disturbances, depressive symptoms, cognitive impairment and dementia), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., ataxic gait). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms.

S0025775311004362

Neuropsychiatric disturbances in essential tremor

Keywords Essential tremor Emotional dysfunction Cognitive dysfunction Dementia Mild cognitive impairment Neurologic manifestations Cerebellar disorder Neurodegeneration

Abstract This review focuses on the neuropsychiatric manifestations (<dis>personality disturbances</dis>, depressive symptoms, <dis>cognitive impairment</dis> and <dis>dementia</dis>), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., <dis>ataxic gait</dis>). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with <dis>mild cognitive impairment</dis> and <dis>dementia</dis>. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Abstract This review focuses on the neuropsychiatric manifestations (personality disturbances, depressive symptoms, cognitive impairment and dementia), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., ataxic gait). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

S0025775311004362

Neuropsychiatric disturbances in essential tremor

Keywords Essential tremor Emotional dysfunction Cognitive dysfunction Dementia Mild cognitive impairment Neurologic manifestations Cerebellar disorder Neurodegeneration

Abstract This review focuses on the neuropsychiatric manifestations (<dis>personality disturbances</dis>, depressive symptoms, <dis>cognitive impairment</dis> and <dis>dementia</dis>), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., <dis>ataxic gait</dis>). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with <dis>mild cognitive impairment</dis> and <dis>dementia</dis>. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Abstract This review focuses on the neuropsychiatric manifestations (personality disturbances, depressive symptoms, cognitive impairment and dementia), which have been described in this last decade in patients with essential tremor. We compared the data derived from the Neurologic Disorders in Central Spain (NEDICES) study, a prospective population-based survey, with those derived from the literature. The traditional view of essential tremor as a mono- symptomatic condition characterized by action tremor is now changing. First, it is known that many patients also have other motor manifestations apart from tremor (e.g., ataxic gait). Second, in the last years, the presence of a variety of non-motor neuropsychiatric features has been described. Mild cognitive changes (especially executive dysfunction) have been documented in several independent studies. Further, two population-based studies have demonstrated an association between essential tremor with mild cognitive impairment and dementia. Psychiatric manifestations include specific personality traits, anxiety, social phobia, and depressive symptoms. Taking together, the neuropsychiatric dysfunction pattern and the new data on neuropathology of essential tremor suggest that this disease is a neurodegenerative cerebellar disorder and let us to question the classical concept of essential tremor as a benign mono-symptomatic disorder.

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy.

S0048712009718584

Congenital myotonic dystrophy. clinical, electrophysiological and genetic findings of our casuistry

Key words congenital myotonic dystrophy myotonic dystrophy type 1 myotonic dystrophy of Steinert genetic anticipation myopathy electromyography

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results <dis>Motor retardation</dis> as well as the <dis>intellectual retardation</dis>, <dis>dysarthria</dis> and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results Motor retardation as well as the intellectual retardation, dysarthria and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results Motor retardation as well as the intellectual retardation, dysarthria and nasal voice was clear in all the patients.

S0048712009718584

Congenital myotonic dystrophy. clinical, electrophysiological and genetic findings of our casuistry

Key words congenital myotonic dystrophy myotonic dystrophy type 1 myotonic dystrophy of Steinert genetic anticipation myopathy electromyography

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results <dis>Motor retardation</dis> as well as the <dis>intellectual retardation</dis>, <dis>dysarthria</dis> and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results Motor retardation as well as the intellectual retardation, dysarthria and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy.

S0048712009718584

Congenital myotonic dystrophy. clinical, electrophysiological and genetic findings of our casuistry

Key words congenital myotonic dystrophy myotonic dystrophy type 1 myotonic dystrophy of Steinert genetic anticipation myopathy electromyography

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results <dis>Motor retardation</dis> as well as the <dis>intellectual retardation</dis>, <dis>dysarthria</dis> and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results Motor retardation as well as the intellectual retardation, dysarthria and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

S0048712009718584

Congenital myotonic dystrophy. clinical, electrophysiological and genetic findings of our casuistry

Key words congenital myotonic dystrophy myotonic dystrophy type 1 myotonic dystrophy of Steinert genetic anticipation myopathy electromyography

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results <dis>Motor retardation</dis> as well as the <dis>intellectual retardation</dis>, <dis>dysarthria</dis> and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother. It is characterized by the birth the newborn baby with hypotonia, respiratory and nutritional problems, and facial and general weakness. Objective Descriptive study of our experience in congenital myotonic dystrophy. Patients and methods Twelve patients with congenital myotonic dystrophy, belonging to 9 families in which the mother was a carrier of the disease have been studied. The clinical, electromyographic and genetic characteristics of their families were analyzed. Results Motor retardation as well as the intellectual retardation, dysarthria and nasal voice was clear in all the patients. The affected children had more than 1,500 repetitions of the cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19 determined by the Southern Blot technique. Myopathic type alterations were found in the electromyographs of all of the subjects. The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy. Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia, in mothers with a background of abortions or stillborn babies. After surviving the first years of life, their development is similar to the myotonic dystrophy of the adult. It is fundamental to perform a genetic study in those who are affected by or carriers of the disease.

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment.

S030448581200039X

Efficacy of swallowing maneuvers and oral motor exercises in dysphagia due to a severe traumatic brain injury in adults

Keywords Traumatic brain injury Dysphagia Videofluoroscopy Swallowing maneuvres Oral motor exercises Functional magnetic resonance imaging

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. <dis>Swallowing disorders</dis> are common in the initial phase of a severe traumatic brain injury. The incidence of <dis>dysphagia</dis> varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of <dis>dysphagia</dis> depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of <dis>dysphagia</dis> is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of dysphagia depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of dysphagia is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

The outcome of dysphagia depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of dysphagia is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium.

S030448581200039X

Efficacy of swallowing maneuvers and oral motor exercises in dysphagia due to a severe traumatic brain injury in adults

Keywords Traumatic brain injury Dysphagia Videofluoroscopy Swallowing maneuvres Oral motor exercises Functional magnetic resonance imaging

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. <dis>Swallowing disorders</dis> are common in the initial phase of a severe traumatic brain injury. The incidence of <dis>dysphagia</dis> varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of <dis>dysphagia</dis> depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of <dis>dysphagia</dis> is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of dysphagia depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of dysphagia is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

S030448581200039X

Efficacy of swallowing maneuvers and oral motor exercises in dysphagia due to a severe traumatic brain injury in adults

Keywords Traumatic brain injury Dysphagia Videofluoroscopy Swallowing maneuvres Oral motor exercises Functional magnetic resonance imaging

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. <dis>Swallowing disorders</dis> are common in the initial phase of a severe traumatic brain injury. The incidence of <dis>dysphagia</dis> varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of <dis>dysphagia</dis> depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of <dis>dysphagia</dis> is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

Abstract Traumatic brain injury is the first cause of death in persons younger than 45 years in Spain. Swallowing disorders are common in the initial phase of a severe traumatic brain injury. The incidence of dysphagia varies between 25 and 61% of patients and the prognosis depends on correct evaluation and early and appropriate treatment. The outcome of dysphagia depends on a low score in the Rancho Los Amigos Cognitive Scale and the Glasgow Coma Scale, orotracheal intubation and the presence of tracheostomy. The most widely used instrumental assessment tool for the diagnosis of dysphagia is videofluoroscopy. This procedure consists of swallowing a variety of liquids and foods mixed with barium. Swallowing maneuvres and oral motor exercises are useful in the rehabilitation of swallowing. Functional magnetic resonance imaging of the brain shows the cortical areas that are activated during the application of rehabilitation treatment.

Abstract There is growing acceptance that pregnancy itself is not a protective factor against mental disorders. Indeed, some mental disorders such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period.

S2173505009700457

Use of antipsychotics during pregnancy and breastfeeding

Keywords Antipsychotic Pregnancy Postpartum Breast feeding Ethic

Abstract There is growing acceptance that pregnancy itself is not a protective factor against <dis>mental disorders</dis>. Indeed, some <dis>mental disorders</dis> such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a <dis>mental disorder</dis> that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of <dis>severe mental disorders</dis> should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with <dis>mental disorders</dis> must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

Abstract There is growing acceptance that pregnancy itself is not a protective factor against mental disorders. Indeed, some mental disorders such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a mental disorder that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of severe mental disorders should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with mental disorders must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

In pregnant women with a mental disorder that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women.

S2173505009700457

Use of antipsychotics during pregnancy and breastfeeding

Keywords Antipsychotic Pregnancy Postpartum Breast feeding Ethic

Abstract There is growing acceptance that pregnancy itself is not a protective factor against <dis>mental disorders</dis>. Indeed, some <dis>mental disorders</dis> such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a <dis>mental disorder</dis> that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of <dis>severe mental disorders</dis> should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with <dis>mental disorders</dis> must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

Abstract There is growing acceptance that pregnancy itself is not a protective factor against mental disorders. Indeed, some mental disorders such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a mental disorder that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of severe mental disorders should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with mental disorders must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of severe mental disorders should be maintained during pregnancy, the postpartum and subsequent periods.

S2173505009700457

Use of antipsychotics during pregnancy and breastfeeding

Keywords Antipsychotic Pregnancy Postpartum Breast feeding Ethic

Abstract There is growing acceptance that pregnancy itself is not a protective factor against <dis>mental disorders</dis>. Indeed, some <dis>mental disorders</dis> such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a <dis>mental disorder</dis> that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of <dis>severe mental disorders</dis> should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with <dis>mental disorders</dis> must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

Abstract There is growing acceptance that pregnancy itself is not a protective factor against mental disorders. Indeed, some mental disorders such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a mental disorder that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of severe mental disorders should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with mental disorders must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

These recommendations also indicate that women with mental disorders must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

S2173505009700457

Use of antipsychotics during pregnancy and breastfeeding

Keywords Antipsychotic Pregnancy Postpartum Breast feeding Ethic

Abstract There is growing acceptance that pregnancy itself is not a protective factor against <dis>mental disorders</dis>. Indeed, some <dis>mental disorders</dis> such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a <dis>mental disorder</dis> that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of <dis>severe mental disorders</dis> should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with <dis>mental disorders</dis> must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

Abstract There is growing acceptance that pregnancy itself is not a protective factor against mental disorders. Indeed, some mental disorders such as psychotic and bipolar disorders may become worse during pregnancy and the immediate postpartum period. In pregnant women with a mental disorder that can be treated with antipsychotics, the known risks—teratogenic, obstetric, neonatal and those affecting the mother— indicate that, in general, the risk of the non-treated disorder is higher than that resulting from the use of antipsychotics and that the reduction in psychoticism improves the overall prognosis of these women. All the antipsychotics marketed in Spain are included in category C of the US Food and Drug Administration, with the exception of clozapine and piperazine, which are included in category B. The use of all of these drugs should be avoided during breast feeding as far as possible. The most reliable current recommendations indicate that optimal control of severe mental disorders should be maintained during pregnancy, the postpartum and subsequent periods. These recommendations also indicate that women with mental disorders must be considered as high risk and that both these women and their pregnancies should be constantly monitored. The currently available scientific information does not allow more than relatively secure individually-tailored recommendations to be made. When taking the decision of whether or not to treat with antipsychotics, the use of a risk- benefit relationship is crucial, with the participation of the woman's partner or legal representative, other physicians and even the clinical pharmacist if necessary.

Abstract Pain is a prevalent symptom in cancer geriatric patients, appearing in up to 90% of patients with terminal cancer. This requires a multidimensional approach, as there is a high percentage of inappropriate assessments and treatments.

S0211139X15000281

Update on oncological pain in the elderly

Keywords Geriatric cancer pain Geriatric patient Cancer pain assessment Cancer pain management

Abstract Pain is a prevalent symptom in cancer geriatric patients, appearing in up to 90% of patients with terminal cancer. This requires a multidimensional approach, as there is a high percentage of inappropriate assessments and treatments. Unrecognized or poorly treated pain in the geriatric population, especially in cancer patients, leads to the development of disabling symptoms such as depression, anxiety, isolation, <dis>sleep disturbances</dis>, and appetite, and very especially, <dis>loss of functional capacity and quality of life</dis>. In this review an analysis is made on the most relevant studies on the diagnosis and management of cancer pain in the geriatric population.

Abstract Pain is a prevalent symptom in cancer geriatric patients, appearing in up to 90% of patients with terminal cancer. This requires a multidimensional approach, as there is a high percentage of inappropriate assessments and treatments. Unrecognized or poorly treated pain in the geriatric population, especially in cancer patients, leads to the development of disabling symptoms such as depression, anxiety, isolation, sleep disturbances, and appetite, and very especially, loss of functional capacity and quality of life. In this review an analysis is made on the most relevant studies on the diagnosis and management of cancer pain in the geriatric population.

Unrecognized or poorly treated pain in the geriatric population, especially in cancer patients, leads to the development of disabling symptoms such as depression, anxiety, isolation, sleep disturbances, and appetite, and very especially, loss of functional capacity and quality of life. In this review an analysis is made on the most relevant studies on the diagnosis and management of cancer pain in the geriatric population.

S0211139X15000281

Update on oncological pain in the elderly

Keywords Geriatric cancer pain Geriatric patient Cancer pain assessment Cancer pain management

Abstract Pain is a prevalent symptom in cancer geriatric patients, appearing in up to 90% of patients with terminal cancer. This requires a multidimensional approach, as there is a high percentage of inappropriate assessments and treatments. Unrecognized or poorly treated pain in the geriatric population, especially in cancer patients, leads to the development of disabling symptoms such as depression, anxiety, isolation, <dis>sleep disturbances</dis>, and appetite, and very especially, <dis>loss of functional capacity and quality of life</dis>. In this review an analysis is made on the most relevant studies on the diagnosis and management of cancer pain in the geriatric population.

Abstract Pain is a prevalent symptom in cancer geriatric patients, appearing in up to 90% of patients with terminal cancer. This requires a multidimensional approach, as there is a high percentage of inappropriate assessments and treatments. Unrecognized or poorly treated pain in the geriatric population, especially in cancer patients, leads to the development of disabling symptoms such as depression, anxiety, isolation, sleep disturbances, and appetite, and very especially, loss of functional capacity and quality of life. In this review an analysis is made on the most relevant studies on the diagnosis and management of cancer pain in the geriatric population.

Background Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience.

S1695403306700765

Diode laser therapy in retinopathy of prematurity: more than a decade of experience

Key words Retinopathy of prematurity Early treatment Diode laser

Background Retinopathy of prematurity (ROP) is one of the most important causes of <dis>blindness</dis> in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Background Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed.

S1695403306700765

Diode laser therapy in retinopathy of prematurity: more than a decade of experience

Key words Retinopathy of prematurity Early treatment Diode laser

Background Retinopathy of prematurity (ROP) is one of the most important causes of <dis>blindness</dis> in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Background Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

S1695403306700765

Diode laser therapy in retinopathy of prematurity: more than a decade of experience

Key words Retinopathy of prematurity Early treatment Diode laser

Background Retinopathy of prematurity (ROP) is one of the most important causes of <dis>blindness</dis> in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Background Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1%. Discussion Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Abstract Introduction The presence of dysphagia has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect dysphagia early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient.

S004871201100123X

Screening of swallowing disorders in stroke: utility of clinical signs and clinical examination method of volume-viscosity in comparison with videofluoroscopy

Keywords Stroke Dysphagia Screening test Videofluoroscopy Rehabilitation

Abstract Introduction The presence of <dis>dysphagia</dis> has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect <dis>dysphagia</dis> early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the <dis>dysphagic patient</dis> is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Abstract Introduction The presence of dysphagia has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect dysphagia early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the dysphagic patient is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC).

S004871201100123X

Screening of swallowing disorders in stroke: utility of clinical signs and clinical examination method of volume-viscosity in comparison with videofluoroscopy

Keywords Stroke Dysphagia Screening test Videofluoroscopy Rehabilitation

Abstract Introduction The presence of <dis>dysphagia</dis> has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect <dis>dysphagia</dis> early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the <dis>dysphagic patient</dis> is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Abstract Introduction The presence of dysphagia has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect dysphagia early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the dysphagic patient is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively.

S004871201100123X

Screening of swallowing disorders in stroke: utility of clinical signs and clinical examination method of volume-viscosity in comparison with videofluoroscopy

Keywords Stroke Dysphagia Screening test Videofluoroscopy Rehabilitation

Abstract Introduction The presence of <dis>dysphagia</dis> has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect <dis>dysphagia</dis> early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the <dis>dysphagic patient</dis> is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Abstract Introduction The presence of dysphagia has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect dysphagia early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the dysphagic patient is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the dysphagic patient is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

S004871201100123X

Screening of swallowing disorders in stroke: utility of clinical signs and clinical examination method of volume-viscosity in comparison with videofluoroscopy

Keywords Stroke Dysphagia Screening test Videofluoroscopy Rehabilitation

Abstract Introduction The presence of <dis>dysphagia</dis> has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect <dis>dysphagia</dis> early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the <dis>dysphagic patient</dis> is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Abstract Introduction The presence of dysphagia has been associated to dehydration, nutritional disorders, pneumonia and even death of the patient, this having an affect on the health care costs. There are methods to detect dysphagia early based on evaluation of the clinical signs and methods that can be used at the bedside of the patient. Objectives To determine the utility of the evaluation of the clinical signs (CS) and the volume-viscosity test (V-VST) and evaluate their efficacy to detect risk of aspiration in the acute and subacute phase of stroke. Patients and method A retrospective evaluation of a cohort of 79 stroke patients was performed. We compared the clinical signs and V-VST with the results observed with the videofluoroscopy (VFC). The variables that determine accuracy and overall value of a diagnostic method, that is, sensitivity, specificity, and positive (PPV) and negative (NPP) predictive values, were calculated. Results A sensitivity of 69% and specificity of 28.8% was obtained for the Clinical Signs to detect severe dysphagia (Aspiration). V-VST detected aspiration with 100% sensitivity and 13.6% specificity. NPP was 62.5% and 100%, respectively. Diagnostic accuracy was 0.38 for clinical signs and 0.48 for V-VST. Conclusion Using CS and V-VST for the evaluation of the dysphagic patient is a low-cost screening method that is easy to apply and highly sensitive. The V-VST offers a higher sensitivity, specificity and accuracy and makes it possible to modify the diet early and to decide whether instrumental assessment is indicated.

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life.

S169540331000113X

Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients

Keywords Osteogenesis Imperfecta Disability evaluation Pain Scoliosis Multidisciplinary treatment Anthropometry Children

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and <dis>conductive or mixed hearing loss</dis>. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively.

S169540331000113X

Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients

Keywords Osteogenesis Imperfecta Disability evaluation Pain Scoliosis Multidisciplinary treatment Anthropometry Children

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and <dis>conductive or mixed hearing loss</dis>. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases.

S169540331000113X

Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients

Keywords Osteogenesis Imperfecta Disability evaluation Pain Scoliosis Multidisciplinary treatment Anthropometry Children

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and <dis>conductive or mixed hearing loss</dis>. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

S169540331000113X

Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients

Keywords Osteogenesis Imperfecta Disability evaluation Pain Scoliosis Multidisciplinary treatment Anthropometry Children

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and <dis>conductive or mixed hearing loss</dis>. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Abstract Introduction Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results Thirty-five were type I OI, and thirty were types III–IV. Median age was 7.8 years (range 1.9–19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was −1.4 sDS and −5.64 sDS in types I and III–IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of blindness. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP.

S0187533717300444

Epidemiological characterization retinopathy of prematurity in the Friendship Korea Mexico hospital. Period 2005 to 2014

Keywords Retinopathy of prematurity Prevalence Blidness

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of <dis>blindness</dis>. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for <dis>blidness</dis>. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report <scp><neg>none</neg> <dis>blind</dis> children with ROP</scp>.

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of blindness. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for blidness. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report none blind children with ROP.

From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for blidness. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP.

S0187533717300444

Epidemiological characterization retinopathy of prematurity in the Friendship Korea Mexico hospital. Period 2005 to 2014

Keywords Retinopathy of prematurity Prevalence Blidness

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of <dis>blindness</dis>. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for <dis>blidness</dis>. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report <scp><neg>none</neg> <dis>blind</dis> children with ROP</scp>.

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of blindness. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for blidness. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report none blind children with ROP.

When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP.

S0187533717300444

Epidemiological characterization retinopathy of prematurity in the Friendship Korea Mexico hospital. Period 2005 to 2014

Keywords Retinopathy of prematurity Prevalence Blidness

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of <dis>blindness</dis>. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for <dis>blidness</dis>. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report <scp><neg>none</neg> <dis>blind</dis> children with ROP</scp>.

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of blindness. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for blidness. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report none blind children with ROP.

In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report none blind children with ROP.

S0187533717300444

Epidemiological characterization retinopathy of prematurity in the Friendship Korea Mexico hospital. Period 2005 to 2014

Keywords Retinopathy of prematurity Prevalence Blidness

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of <dis>blindness</dis>. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for <dis>blidness</dis>. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report <scp><neg>none</neg> <dis>blind</dis> children with ROP</scp>.

Introduction Retinophaty of prematurity (ROP) is a disease in which abnormal neovascularization develops in the retina and could be a cause of blindness. Objective To determine severe ROP prevalence. Material and methods In this retrospective, observational, descriptive, transverse study, we did a review of the clinical records of premature patients with < 34 weeks of gestation and a birth weight 1,750g if they have risk factors for ROP. From 2005 to 2014, all the newborns were examined by a retinologist. ROP prevalence per year was determined, only the prevalence for severe ROP was compared because it requires treatment and has a high risk for blidness. Results One hundred forty-three newborns were included, 29 (20.2%) had severe ROP. When comparing for years there was a peak during 2005, with a descend in the prevalence of severe ROP in 2014, so in ten years there was a downward trend. Conclusions Severe ROP cumulated prevalence was 20.2%, similar to that observed in other latinoamerican countries. The high prevalence observed from 2005 to 2009, is explained because we examined patients refered from other institutions without screening programs for ROP. In 2010 we observed a descend in the prevalence, because only patient from our institution were included. From 2011 to 2014 we report none blind children with ROP.