cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.11609409.v1
title: Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias

description: ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. Objectives: The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Methods: A two-center cross-sectional prevalence study was performed. Genetically confirmed HSP patients were evaluated using the Northwestern Dysphagia Patient Check Sheet and the Functional Oral Intake Scale. In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the Swallowing Disturbance Questionnaire. Results: Thirty-six patients with spastic paraplegia type 4 (SPG4), five with SPG11, four with SPG5, four with cerebrotendinous xanthomatosis (CTX), three with SPG7, and two with SPG3A were evaluated. Mild to moderate oropharyngeal dysphagia was present in 3/5 (60%) of SPG11 and 2/4 (50%) of CTX patients. A single SPG4 (2%) and a single SPG7 (33%) patient had mild oropharyngeal dysphagia. All other evaluated patients presented with normal or functional swallowing. Conclusions: Clinically significant oropharyngeal dysphagia was only present in complicated forms of HSP Patients with SPG11 and CTX had the highest risks for dysphagia, suggesting that surveillance of swallowing function should be part of the management of patients with these disorders.
DOI: 10.6084/m9.figshare.11965656.v1
title: A concise historical perspective of the area postrema structure and function

description: ABSTRACT First described by Retzius at the end of the 19th century, the structure in the posterior medulla oblongata, then named area postrema, underwent an intense investigation into its function in the decades that followed. Findings, mainly in animal studies, have partially elucidated its role as an emetic center in the central nervous system. In the second half of the 20th century, this function was associated with reports of syndromes characterized by uncontrollable nausea and vomiting related to structural damage in the area postrema, mainly in the context of demyelinating diseases. At the beginning of the 21st century, the so-called area postrema syndrome has been consolidated as a diagnostic factor in diseases related to the spectrum of neuromyelitis optica, more than 100 years after its first description.
DOI: 10.6084/m9.figshare.12210797.v1
title: Association between statin use and mortality risks during the acute phase of ischemic stroke in patients admitted to an intensive care unit

description: Abstract Ischemic stroke is a common cause of death. The role of statins in the secondary prevention of the chronic ischemic stroke phase has been established. However, evidence regarding their efficacy in this phase is limited and contradictory. Objective: To evaluate the association between statin use and mortality risk during the acute phase of ischemic stroke in patients admitted to an intensive care unit. Methods: This was an observational and prospective study of ischemic stroke patients aged ≥18, admitted to an intensive care unit. Medications used during the first 7 days after the ictus, as well as medications used previously, were recorded. The primary outcome was all-cause mortality during the first 7 days. Results: We screened 212 patients and included 97 patients with ischemic stroke in the study period. The mortality rate among patients who used statins during the acute IS phase [14% (9/63)] was significantly lower than that among patients who did not use statins [41% (14/34); p=0.007]. This was confirmed in logistical regression with an 0.19 Odds Ratio - OR [p=0.018; 95% confidence interval - 95%CI 0.05-0.75]. Patients who died were older, had a higher incidence of acute myocardial infarction, higher scores on the NIHSS and lower systolic blood pressure. Statins and angiotensin converting enzyme inhibitors were used more frequently among survivors. These associations persisted even after adjustment for confounding variables. Conclusion: Statins and angiotensin converting enzyme inhibitors use during hospitalization were independently associated to a lower rate of all-cause mortality in the first 7 days of intensive care unit admission.
DOI: 10.6084/m9.figshare.11609304.v1
title: Rett syndrome: the Brazilian contribution to the gene discovery

description: ABSTRACT A brief history of the syndrome discovered by Andreas Rett is reported in this paper. Although having been described in 1966, the syndrome was only recognized by the international community after a report by Hagberg et al. in 1983. Soon, its importance was evident as a relatively frequent cause of severe encephalopathy among girls. From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases. For these reasons, it was particularly difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism. Brief references are made to the importance of the MECP2 gene, 18 years later, as well as to its role in synaptogenesis and future prospects.
DOI: 10.6084/m9.figshare.11608974
title: Home physical exercise program: analysis of the impact on the clinical evolution of patients with normal pressure hydrocephalus

description: ABSTRACT Objective: To present a program of home physical exercises for patients with normal pressure hydrocephalus (NPH) and to evaluate adherence, acceptance and applicability; to verify possible changes in patients with NPH in the home physical exercise program, comparing patients with, and without, a ventriculoperitoneal shunt, regarding gait, quality of life, activities of daily living, static and dynamic balance and its impact on the risks of falling. Methods: This was a controlled clinical trial, with assessments in three moments (0, 10 and 18 weeks) at the home, from October 2015 to November 2017. Fifty-two patients (30 women and 22 men) participated in the study. Results: There was a statistically significant improvement with 10 weeks of home physical exercises for the groups with and without ventriculoperitoneal shunt, respectively, in the sub-items: activities of daily living p = 0.032*, p = 0.003*; static balance p &lt; 0.001*, p &lt; 0.001*; functional capacity p &lt; 0.001*, p = 0.027*; and dynamic balance and gait p = 0.009*, p &lt; 0.001*. There was no statistically significant difference for the subitems: quality of life p = 0.695, p = 1.000; and NPH grading scale p = 0.695, p = 1.000, respectively. Conclusion: The developed program of home physical exercise was easily applied and there was good acceptance by most patients with NPH included in the research. There was a statistically significant improvement with the 10 weeks of home physical exercises in the sub-items: activities of daily living, static balance and functional capacity, for both groups. In the sub-item dynamic balance and gait, there was a statistically significant improvement for both groups, but with a higher score for the group with a ventriculoperitoneal shunt. There was no statistically significant difference for the sub-items: quality of life, NPH grading scale and risk of falls, based on the Berg scale.
DOI: 10.6084/m9.figshare.11608974.v1
title: Home physical exercise program: analysis of the impact on the clinical evolution of patients with normal pressure hydrocephalus

description: ABSTRACT Objective: To present a program of home physical exercises for patients with normal pressure hydrocephalus (NPH) and to evaluate adherence, acceptance and applicability; to verify possible changes in patients with NPH in the home physical exercise program, comparing patients with, and without, a ventriculoperitoneal shunt, regarding gait, quality of life, activities of daily living, static and dynamic balance and its impact on the risks of falling. Methods: This was a controlled clinical trial, with assessments in three moments (0, 10 and 18 weeks) at the home, from October 2015 to November 2017. Fifty-two patients (30 women and 22 men) participated in the study. Results: There was a statistically significant improvement with 10 weeks of home physical exercises for the groups with and without ventriculoperitoneal shunt, respectively, in the sub-items: activities of daily living p = 0.032*, p = 0.003*; static balance p &lt; 0.001*, p &lt; 0.001*; functional capacity p &lt; 0.001*, p = 0.027*; and dynamic balance and gait p = 0.009*, p &lt; 0.001*. There was no statistically significant difference for the subitems: quality of life p = 0.695, p = 1.000; and NPH grading scale p = 0.695, p = 1.000, respectively. Conclusion: The developed program of home physical exercise was easily applied and there was good acceptance by most patients with NPH included in the research. There was a statistically significant improvement with the 10 weeks of home physical exercises in the sub-items: activities of daily living, static balance and functional capacity, for both groups. In the sub-item dynamic balance and gait, there was a statistically significant improvement for both groups, but with a higher score for the group with a ventriculoperitoneal shunt. There was no statistically significant difference for the sub-items: quality of life, NPH grading scale and risk of falls, based on the Berg scale.
DOI: 10.6084/m9.figshare.12210515
title: Cognitive impairment in chronic migraine: a cross-sectional study in a clinic-based sample

description: Abstract Cognitive impairment has been described in all phases of a migraine attack and interictally. However, the prevalence and phenotype of such impairment in chronic migraine (CM) have not yet been studied. Objectives: The aim of this study was to evaluate both the prevalence of the objective cognitive deficit in patients with CM and the factors underlying its etiology. Methods: 144 patients with CM and 44 age-matched patients with low-frequency episodic migraine (EM) (a maximum of 4 headache days per month) participated in this study. Neuropsychiatric characteristics were measured with the HADS Hospital Anxiety and Depression Scale. Cognitive function was assessed with the Montreal Cognitive Assessment (MoCA), Digit Symbol Substitution Test (DSST), Rey Auditory Verbal Learning Test (RAVLT), and the Perceived Deficits Questionnaire (PDQ-20). Results: Compared to EM, CM subjects demonstrated higher subjective and objective cognitive impairment across all tests. CM patients had 4 times higher odds of achieving a RAVLT score in the lower quartile range compared to EM (Odds Ratio [OR] 3.8; 95% confidence interval [95%CI] 1.5‒9.6; р=0.005). In the MoCA, CM patients demonstrated the most striking impairment in memory/delayed recall (65.3%), attention (46.5%), abstraction (30.6%), and language (27.1%). Chronic headache and level of education, but not gender, depression or anxiety, were independent predictors of cognitive impairment. Conclusions: Cognitive impairment is prevalent in the CM population during their mildest possible pain and may be caused by a central sensitization. Timely preventive treatment of EM is warranted.
DOI: 10.6084/m9.figshare.14275821.v1
title: Ondine’s curse: the origin of the myth

description: ABSTRACT Central alveolar hypoventilation syndrome has been known for decades as Ondine’s curse. It was named as such after a German myth. Although most of the stories resemble one another, word of mouth has led to misinterpretation of this tale among the medical community. The present paper reviews the original narrative, its characters, and how it is linked to the most relevant aspects of the disease.
DOI: 10.6084/m9.figshare.14275823
title: Post-dural puncture headache incidence after cerebrospinal fluid aspiration. A prospective observational study

description: Abstract Background: Post-dural puncture headache (PDPH) is an iatrogenic condition following lumbar puncture (LP). Incidence is variable and often associated with young females. Technical features of the procedure (i.e. needle gauge) have been investigated; however there is no investigation on the method of cerebrospinal fluid (CSF) collection. Objective: To investigate whether mild CSF aspiration is associated with increased PDPH in selected patients. Methods: 336 subjects were eligible to the study. Data on 237 patients from a tertiary neurology hospital who underwent diagnostic LP from February 2010 to December 2012 were analysed. Patient demographics, lumbar puncture method, CSF biochemical characteristics, opening pressures, and a follow-up inquire on PDPH occurrence were collected. CSF was collected either by allowing free flow or by mild aspiration. Results: The aspiration arm (n=163) was comprised of 55.8% females with mean age of 52(35‒69) years. Sex distribution was not different between the two arms (p=0.191). A significant larger amount of CSF was obtained in the aspiration arm (p=0.011). The incidence of PDPH in the aspiration arm was 16.5% versus 20.2% in the free flow arm, not statistically significant (p=0.489). No relevant associations emerged from the analyses in the subgroup aged &lt;65 years. Conclusions: Aspiration of the CSF during LP was not associated with increased rates of PDPH compared to the standard method, particularly when larger amounts of CSF are required and ideal conditions are met. This is the first study looking into this matter, aiming to add safety to the procedure. Further randomized trials are required.
DOI: 10.6084/m9.figshare.12210515.v1
title: Cognitive impairment in chronic migraine: a cross-sectional study in a clinic-based sample

description: Abstract Cognitive impairment has been described in all phases of a migraine attack and interictally. However, the prevalence and phenotype of such impairment in chronic migraine (CM) have not yet been studied. Objectives: The aim of this study was to evaluate both the prevalence of the objective cognitive deficit in patients with CM and the factors underlying its etiology. Methods: 144 patients with CM and 44 age-matched patients with low-frequency episodic migraine (EM) (a maximum of 4 headache days per month) participated in this study. Neuropsychiatric characteristics were measured with the HADS Hospital Anxiety and Depression Scale. Cognitive function was assessed with the Montreal Cognitive Assessment (MoCA), Digit Symbol Substitution Test (DSST), Rey Auditory Verbal Learning Test (RAVLT), and the Perceived Deficits Questionnaire (PDQ-20). Results: Compared to EM, CM subjects demonstrated higher subjective and objective cognitive impairment across all tests. CM patients had 4 times higher odds of achieving a RAVLT score in the lower quartile range compared to EM (Odds Ratio [OR] 3.8; 95% confidence interval [95%CI] 1.5‒9.6; р=0.005). In the MoCA, CM patients demonstrated the most striking impairment in memory/delayed recall (65.3%), attention (46.5%), abstraction (30.6%), and language (27.1%). Chronic headache and level of education, but not gender, depression or anxiety, were independent predictors of cognitive impairment. Conclusions: Cognitive impairment is prevalent in the CM population during their mildest possible pain and may be caused by a central sensitization. Timely preventive treatment of EM is warranted.
DOI: 10.6084/m9.figshare.12210797
title: Association between statin use and mortality risks during the acute phase of ischemic stroke in patients admitted to an intensive care unit

description: Abstract Ischemic stroke is a common cause of death. The role of statins in the secondary prevention of the chronic ischemic stroke phase has been established. However, evidence regarding their efficacy in this phase is limited and contradictory. Objective: To evaluate the association between statin use and mortality risk during the acute phase of ischemic stroke in patients admitted to an intensive care unit. Methods: This was an observational and prospective study of ischemic stroke patients aged ≥18, admitted to an intensive care unit. Medications used during the first 7 days after the ictus, as well as medications used previously, were recorded. The primary outcome was all-cause mortality during the first 7 days. Results: We screened 212 patients and included 97 patients with ischemic stroke in the study period. The mortality rate among patients who used statins during the acute IS phase [14% (9/63)] was significantly lower than that among patients who did not use statins [41% (14/34); p=0.007]. This was confirmed in logistical regression with an 0.19 Odds Ratio - OR [p=0.018; 95% confidence interval - 95%CI 0.05-0.75]. Patients who died were older, had a higher incidence of acute myocardial infarction, higher scores on the NIHSS and lower systolic blood pressure. Statins and angiotensin converting enzyme inhibitors were used more frequently among survivors. These associations persisted even after adjustment for confounding variables. Conclusion: Statins and angiotensin converting enzyme inhibitors use during hospitalization were independently associated to a lower rate of all-cause mortality in the first 7 days of intensive care unit admission.
DOI: 10.6084/m9.figshare.14275821
title: Ondine’s curse: the origin of the myth

description: ABSTRACT Central alveolar hypoventilation syndrome has been known for decades as Ondine’s curse. It was named as such after a German myth. Although most of the stories resemble one another, word of mouth has led to misinterpretation of this tale among the medical community. The present paper reviews the original narrative, its characters, and how it is linked to the most relevant aspects of the disease.
DOI: 10.6084/m9.figshare.14275823.v1
title: Post-dural puncture headache incidence after cerebrospinal fluid aspiration. A prospective observational study

description: Abstract Background: Post-dural puncture headache (PDPH) is an iatrogenic condition following lumbar puncture (LP). Incidence is variable and often associated with young females. Technical features of the procedure (i.e. needle gauge) have been investigated; however there is no investigation on the method of cerebrospinal fluid (CSF) collection. Objective: To investigate whether mild CSF aspiration is associated with increased PDPH in selected patients. Methods: 336 subjects were eligible to the study. Data on 237 patients from a tertiary neurology hospital who underwent diagnostic LP from February 2010 to December 2012 were analysed. Patient demographics, lumbar puncture method, CSF biochemical characteristics, opening pressures, and a follow-up inquire on PDPH occurrence were collected. CSF was collected either by allowing free flow or by mild aspiration. Results: The aspiration arm (n=163) was comprised of 55.8% females with mean age of 52(35‒69) years. Sex distribution was not different between the two arms (p=0.191). A significant larger amount of CSF was obtained in the aspiration arm (p=0.011). The incidence of PDPH in the aspiration arm was 16.5% versus 20.2% in the free flow arm, not statistically significant (p=0.489). No relevant associations emerged from the analyses in the subgroup aged &lt;65 years. Conclusions: Aspiration of the CSF during LP was not associated with increased rates of PDPH compared to the standard method, particularly when larger amounts of CSF are required and ideal conditions are met. This is the first study looking into this matter, aiming to add safety to the procedure. Further randomized trials are required.
DOI: 10.6084/m9.figshare.11966166
title: Complement factor H levels are decreased and correlated with serum C-reactive protein in late-onset Alzheimer's disease

description: Abstract Alzheimer’s disease (AD) is the most common cause of dementia. Despite numerous studies on the subject, the pathologies for AD are still unclear and there is still no ideal biomarker for diagnosis. The present study aimed to investigate clinical significance of human complement factor H (CFH) in patients with late-onset AD. Methods: The present prospective study included 187 late-onset AD patients who went to our hospital from January 2015 to December 2017. One hundred patients with mild cognitive impairment (MCI) and 80 healthy individuals who were age and gender matched to AD patients were enrolled as controls. Demographic data such as age, gender, and education duration were recorded. Blood samples were collected and serum levels of C-reactive protein (CRP), CFH, and brain-derived neurotrophic factor (BDNF) were determined by Enzyme-linked immunosorbent assay (ELISA). The mini-mental state examination (MMSE) score was measured for all patients. Results: No significant difference was found in age, gender, and education duration for all participants. The MMSE scores showed AD patients had lower MMES scores than the other two groups. All factors of CFH, CRP, and BDNF were dramatically decreased in AD patients compared with the MCI and the ealthy control. Levels of CFH were found to be positively correlated with levels of CRP; however, no significant correlation was found between CFH and BDNF, nor CFH and MMSE. Conclusion: CFH was decreased in late-onset AD patients, and serum levels of CFH was correlated with serum levels of CRP, but not MMSE and BDNF. These results may provide more clinical evidences for the role of CFH in AD patients.
DOI: 10.6084/m9.figshare.11966166.v1
title: Complement factor H levels are decreased and correlated with serum C-reactive protein in late-onset Alzheimer's disease

description: Abstract Alzheimer’s disease (AD) is the most common cause of dementia. Despite numerous studies on the subject, the pathologies for AD are still unclear and there is still no ideal biomarker for diagnosis. The present study aimed to investigate clinical significance of human complement factor H (CFH) in patients with late-onset AD. Methods: The present prospective study included 187 late-onset AD patients who went to our hospital from January 2015 to December 2017. One hundred patients with mild cognitive impairment (MCI) and 80 healthy individuals who were age and gender matched to AD patients were enrolled as controls. Demographic data such as age, gender, and education duration were recorded. Blood samples were collected and serum levels of C-reactive protein (CRP), CFH, and brain-derived neurotrophic factor (BDNF) were determined by Enzyme-linked immunosorbent assay (ELISA). The mini-mental state examination (MMSE) score was measured for all patients. Results: No significant difference was found in age, gender, and education duration for all participants. The MMSE scores showed AD patients had lower MMES scores than the other two groups. All factors of CFH, CRP, and BDNF were dramatically decreased in AD patients compared with the MCI and the ealthy control. Levels of CFH were found to be positively correlated with levels of CRP; however, no significant correlation was found between CFH and BDNF, nor CFH and MMSE. Conclusion: CFH was decreased in late-onset AD patients, and serum levels of CFH was correlated with serum levels of CRP, but not MMSE and BDNF. These results may provide more clinical evidences for the role of CFH in AD patients.