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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.