cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.11609088
title: Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil

description: ABSTRACT Alzheimer's disease (AD) has as its main characteristic the deterioration of cerebral functions. Its etiology is still complex and undefined despite the progress made in understanding its neurological, infectious, biochemical, genetic and cytogenetic mechanisms. Considering this, the aim of this study was to investigate the presence of chromosomal alterations in the peripheral blood lymphocytes, and to verify if there was a high frequency of these alterations in patients diagnosed with AD at the University Hospital GetúLio Vargas Outpatient Clinic Araújo Lima in Manaus, Amazonas, Brazil. Among the nine patients in the AD group, only one patient did not have metaphases with chromosomal alterations (2n = 46,XX), while eight patients with AD showed numerical chromosomal alterations, classified as X chromosome aneupLoidy (2n = 45,X) and double aneupLoidy (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 and 2n = 44,X,-X,-21). In the control group, no chromosomal changes were found in the karyotypes of these individuals. Therefore, the karyotypes of patients with AD undergo chromosomal alterations at different levels. These findings are being described for the first time in the population of Amazonas, and they highlight the importance of the inclusion of cytogenetic investigations in the routine management of patients with AD.
DOI: 10.6084/m9.figshare.11609361
title: Vitamin D, vitamin D binding protein, vitamin D receptor levels and cardiac dysautonomia in patients with multiple sclerosis: a cross-sectional study

description: ABSTRACT Vitamin D is a pleiotropic steroid hormone that modulates the autonomic balance. Its deficiency has been described as an environmental risk factor for multiple sclerosis (MS). The aim of this study was to investigate the serum levels of vitamin D, vitamin D binding protein (VDBP) and vitamin D receptors (VDR) and to evaluate cardiac dysautonomia in MS patients due to bidirectional interaction between vitamin D and the autonomic nervous system. Methods: The current cross-sectional study was conducted on 26 patients with relapsing-remitting MS and on 24 healthy controls. Twenty-four-hour ambulatory blood pressure variability (BPV) was calculated and the participants were evaluated for orthostatic hypotension and supine hypertension. Serum levels of vitamin D, VDBP and VDR were measured. Results: The mean serum vitamin D level was significantly lower in MS patients than in controls (p = 0.044); however there was no significant difference in terms of VDR and VDBP levels between the groups. Supine hypertension and orthostatic hypotension were significant and the 24-hour systolic BPV was significantly decreased in patients with MS (p &lt; 0.05) compared to controls. No correlation was found between vitamin D, VDBP and VDR with supine hypertension, orthostatic hypotension and systolic BPV values (p &gt; 0.05). Also, there was a negative correlation between VDBP and the EDSS (p = 0.039, r = −0.406). Conclusion: There was no correlation between orthostatic hypotension, supine hypertension and systolic BPV values and serum vitamin D, VDBP and VDR in MS patients. Future prospective studies with large number of patients may help us to better understand the relationship between vitamin D and the autonomic nervous system.
DOI: 10.6084/m9.figshare.11609361.v1
title: Vitamin D, vitamin D binding protein, vitamin D receptor levels and cardiac dysautonomia in patients with multiple sclerosis: a cross-sectional study

description: ABSTRACT Vitamin D is a pleiotropic steroid hormone that modulates the autonomic balance. Its deficiency has been described as an environmental risk factor for multiple sclerosis (MS). The aim of this study was to investigate the serum levels of vitamin D, vitamin D binding protein (VDBP) and vitamin D receptors (VDR) and to evaluate cardiac dysautonomia in MS patients due to bidirectional interaction between vitamin D and the autonomic nervous system. Methods: The current cross-sectional study was conducted on 26 patients with relapsing-remitting MS and on 24 healthy controls. Twenty-four-hour ambulatory blood pressure variability (BPV) was calculated and the participants were evaluated for orthostatic hypotension and supine hypertension. Serum levels of vitamin D, VDBP and VDR were measured. Results: The mean serum vitamin D level was significantly lower in MS patients than in controls (p = 0.044); however there was no significant difference in terms of VDR and VDBP levels between the groups. Supine hypertension and orthostatic hypotension were significant and the 24-hour systolic BPV was significantly decreased in patients with MS (p &lt; 0.05) compared to controls. No correlation was found between vitamin D, VDBP and VDR with supine hypertension, orthostatic hypotension and systolic BPV values (p &gt; 0.05). Also, there was a negative correlation between VDBP and the EDSS (p = 0.039, r = −0.406). Conclusion: There was no correlation between orthostatic hypotension, supine hypertension and systolic BPV values and serum vitamin D, VDBP and VDR in MS patients. Future prospective studies with large number of patients may help us to better understand the relationship between vitamin D and the autonomic nervous system.
DOI: 10.6084/m9.figshare.11609409
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.11965890.v1
title: Brainstem auditory pathway of children with acute lymphoid leukemia on chemotherapy with methotrexate

description: Abstract Objective: Investigate the auditory pathway in the brainstem of children with acute lymphoblastic leukemia submitted to chemotherapy (by intravenous or intrathecal infusion). Methods: Fourteen children aged between 2 and 12 years with diagnosis of acute lymphoid leukemia were evaluated. The following procedures were used: meatoscopy, acoustic immitance measurements, tonal audiometry, vocal audiometry, transient otoacoustic emissions, and auditory brainstem response. Results: From the 14 children with normal auditory thresholds, 35.71% showed an alteration in auditory brainstem response, with a predominance of hearing impairment in the lower brainstem. It was found that 80% of the children with alteration had used intrathecal methotrexate less than 30 days and that 40% had the highest cumulative intravenous methotrexate doses. Conclusion: Children with acute lymphoblastic leukemia submitted to chemotherapy, present auditory pathway impairment in the brainstem, with a predominance of a low brainstem.
DOI: 10.6084/m9.figshare.11965890
title: Brainstem auditory pathway of children with acute lymphoid leukemia on chemotherapy with methotrexate

description: Abstract Objective: Investigate the auditory pathway in the brainstem of children with acute lymphoblastic leukemia submitted to chemotherapy (by intravenous or intrathecal infusion). Methods: Fourteen children aged between 2 and 12 years with diagnosis of acute lymphoid leukemia were evaluated. The following procedures were used: meatoscopy, acoustic immitance measurements, tonal audiometry, vocal audiometry, transient otoacoustic emissions, and auditory brainstem response. Results: From the 14 children with normal auditory thresholds, 35.71% showed an alteration in auditory brainstem response, with a predominance of hearing impairment in the lower brainstem. It was found that 80% of the children with alteration had used intrathecal methotrexate less than 30 days and that 40% had the highest cumulative intravenous methotrexate doses. Conclusion: Children with acute lymphoblastic leukemia submitted to chemotherapy, present auditory pathway impairment in the brainstem, with a predominance of a low brainstem.
DOI: 10.6084/m9.figshare.11609088.v1
title: Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil

description: ABSTRACT Alzheimer's disease (AD) has as its main characteristic the deterioration of cerebral functions. Its etiology is still complex and undefined despite the progress made in understanding its neurological, infectious, biochemical, genetic and cytogenetic mechanisms. Considering this, the aim of this study was to investigate the presence of chromosomal alterations in the peripheral blood lymphocytes, and to verify if there was a high frequency of these alterations in patients diagnosed with AD at the University Hospital GetúLio Vargas Outpatient Clinic Araújo Lima in Manaus, Amazonas, Brazil. Among the nine patients in the AD group, only one patient did not have metaphases with chromosomal alterations (2n = 46,XX), while eight patients with AD showed numerical chromosomal alterations, classified as X chromosome aneupLoidy (2n = 45,X) and double aneupLoidy (2n = 44,X,-X,-10; 2n = 44,X,-X,-13 and 2n = 44,X,-X,-21). In the control group, no chromosomal changes were found in the karyotypes of these individuals. Therefore, the karyotypes of patients with AD undergo chromosomal alterations at different levels. These findings are being described for the first time in the population of Amazonas, and they highlight the importance of the inclusion of cytogenetic investigations in the routine management of patients with AD.
DOI: 10.6084/m9.figshare.11609613
title: Effects of intra-dentate gyrus microinjection of myokine irisin on long-term potentiation in male rats

description: ABSTRACT Induction of long-term potentiation (LTP) increases the storage capacity of synapses in the hippocampal dentate gyrus (DG). Irisin is a myokine generated from FNDC5 (a gene precursor) during exercise. Although intra-cornu ammonis 1 administration of irisin fortifies LTP in mice with Alzheimer's disease, the effects of intra-DG injection of irisin on the LTP in rats remains to be elucidated in vivo. In this study, male Wistar rats were randomly divided into a control group (saline), irisin (0.5, 1, and 1.5 μg/rat), and dimethyl sulfoxide (DMSO). After treatment, the population spike (PS) amplitude and slope of excitatory postsynaptic potentials (EPSP) were measured in the DG of rats in vivo. Moreover, following completion of the experiments, the stimulating and recording sites in the hippocampus were confirmed histologically from brain sections. Furthermore, biochemical assays like malondialdehyde (MDA), total antioxidant capacity (TAC), and total oxidant status (TOS) were evaluated (the antioxidant markers were analyzed in the plasma). Our results suggest that all doses of irisin (0.5, 1, 1.5 μg/rat) caused an increase in the EPSP slope and PS amplitude when compared with the control group. In addition, the results obtained showed that irisin decreased TOS and MDA levels while increasing TAC levels as a marker of lipid peroxidation in plasma. The present report provides direct evidence that irisin affects the activity-dependent synaptic plasticity in the dentate gyrus.
DOI: 10.6084/m9.figshare.11609613.v1
title: Effects of intra-dentate gyrus microinjection of myokine irisin on long-term potentiation in male rats

description: ABSTRACT Induction of long-term potentiation (LTP) increases the storage capacity of synapses in the hippocampal dentate gyrus (DG). Irisin is a myokine generated from FNDC5 (a gene precursor) during exercise. Although intra-cornu ammonis 1 administration of irisin fortifies LTP in mice with Alzheimer's disease, the effects of intra-DG injection of irisin on the LTP in rats remains to be elucidated in vivo. In this study, male Wistar rats were randomly divided into a control group (saline), irisin (0.5, 1, and 1.5 μg/rat), and dimethyl sulfoxide (DMSO). After treatment, the population spike (PS) amplitude and slope of excitatory postsynaptic potentials (EPSP) were measured in the DG of rats in vivo. Moreover, following completion of the experiments, the stimulating and recording sites in the hippocampus were confirmed histologically from brain sections. Furthermore, biochemical assays like malondialdehyde (MDA), total antioxidant capacity (TAC), and total oxidant status (TOS) were evaluated (the antioxidant markers were analyzed in the plasma). Our results suggest that all doses of irisin (0.5, 1, 1.5 μg/rat) caused an increase in the EPSP slope and PS amplitude when compared with the control group. In addition, the results obtained showed that irisin decreased TOS and MDA levels while increasing TAC levels as a marker of lipid peroxidation in plasma. The present report provides direct evidence that irisin affects the activity-dependent synaptic plasticity in the dentate gyrus.
DOI: 10.6084/m9.figshare.11609616
title: First stages towards the establishment of Brazilian neurology faculties

description: ABSTRACT The establishment of modern medicine in Brazil was marked by the arrival of the Portuguese Court in 1808, when the Bahia and Rio de Janeiro Faculties of Medicine were founded. The French School of Medicine exerted a strong influence on Brazilian medicine and on the main pioneers of Brazilian neurology. The elite of “Parisian neurology” trained students and doctors from around the world, and were mentors to the pioneers of Brazilian neurology in the early 20th century. In this article, the authors review the origins of neurology faculties in Brazilian medicine and the main pioneers of Brazilian neurology. Neurology is certainly a continuously changing field and has always adapted to new advances and discoveries, and it is an honor for the authors to pay homage to their pioneers.
DOI: 10.6084/m9.figshare.14275814
title: Vessel density in early-stage primary open angle glaucoma and pseudoexfoliation glaucoma: a comparative controlled optical coherence tomography angiography study

description: ABSTRACT Purpose: This study aimed to compare the vessel density of the optic nerve head and radial peripapillary capillary in the eyes with early-stage primary open angle glaucoma and pseudoexfoliation glaucoma and control eyes. Methods: With visual field mean deviation scores &gt;-6.0 dB, 54 eyes from 37 patients diagnosed with primary open angle glaucoma (n=18) and pseudoexfoliation glaucoma (n=18) and healthy controls (n=18) were enrolled in this cross-sectional observational study. Retrieved from optical coherence tomography angiography, vessel density for the optic nerve head and radial peripapillary capillary were analyzed according to the distribution of the data and appropriate tests. The diagnostic accuracy of vessel density parameters was also assessed. Results: The whole-image vessel density of the radial peripapillary capillary and inside-disc vessel density of the optic nerve head were significantly lower in eyes with primary open angle glaucoma and pseudoexfoliation glaucoma compared to those in the control eyes (p&lt;0.05). Compared to that in pseudoexfoliation glaucoma, the inside-disc vessel density of the optic nerve head was significantly lower in primary open angle glaucoma (p&lt;0.05). Inferotemporal sector vessel density of the optic nerve head for both primary open angle glaucoma and pseudoexfoliation glaucoma was significantly lower than that of the controls (p=0.009). In discrimination of primary open angle glaucoma vs. control and pseudoexfoliation glaucoma vs. control, area under the receiver operating characteristic curve values for inside-disc vessel density of the optic nerve head were 0.855 and 0.731, respectively (p&lt;0.001, p=0.018). However, in discrimination of primary open angle glaucoma vs. pseudoexfoliation glaucoma, area under the receiver operating characteristic curve values for whole-image and inside-disc vessel densities of the optic nerve head were 0.707 and 0.722 (p=0.034, p=0.023). Conclusions: Vessel densities of the optic nerve head and radial peripapillary capillary were significantly lower in eyes with primary open angle glaucoma and pseudoexfoliation glaucoma compared to healthy control eyes. In the early stage of glaucoma, the inside-disc vessel density of the optic nerve head slab may be lower in eyes with primary open angle glaucoma eyes compared to eyes with pseudoexfoliation glaucoma.
DOI: 10.6084/m9.figshare.11609616.v1
title: First stages towards the establishment of Brazilian neurology faculties

description: ABSTRACT The establishment of modern medicine in Brazil was marked by the arrival of the Portuguese Court in 1808, when the Bahia and Rio de Janeiro Faculties of Medicine were founded. The French School of Medicine exerted a strong influence on Brazilian medicine and on the main pioneers of Brazilian neurology. The elite of “Parisian neurology” trained students and doctors from around the world, and were mentors to the pioneers of Brazilian neurology in the early 20th century. In this article, the authors review the origins of neurology faculties in Brazilian medicine and the main pioneers of Brazilian neurology. Neurology is certainly a continuously changing field and has always adapted to new advances and discoveries, and it is an honor for the authors to pay homage to their pioneers.
DOI: 10.6084/m9.figshare.12210530
title: Creating cartoons to represent habitual leg movements

description: Abstract Many people have a habit of moving their legs and believe that this behavior is due to the restless legs syndrome (RLS), a highly prevalent neurological condition that greatly impairs the quality of life of affected individuals. This behavioral pattern, characterized by the habit of moving one’s legs and feet, may be an important confounding factor in the diagnosis of RLS. Objective: To describe the main movements associated with this benign behavioral state to characterize a possible clinical condition that can contribute to the differential diagnosis of RLS. Methods: Experienced sleep specialists, who primarily see RLS patients listed the most frequent movements people without RLS report while describing their suspected RLS. We first compiled a list of the lower-limb movements described by the specialists. Then, one of the authors (KC) carried out all movements of the list on camera to obtain a video footage. This footage was sent to one of the authors, EPC, who, alongside a group of students, drew graphic representations (cartoons) of the recorded movements. Results: The panel of sleep experts described 13 leg movements commonly reported by their patients. The experts reported 11 simple movements and two combined movements. Conclusion: In this study we developed an instrument that allows us to oppose and distinguish a pathological condition (RLS) from a behavioral phenomenon. This state of behavioral leg fidgeting needs to be better characterized and may eventually be recognized as a clinical entity per se.
DOI: 10.6084/m9.figshare.12210530.v1
title: Creating cartoons to represent habitual leg movements

description: Abstract Many people have a habit of moving their legs and believe that this behavior is due to the restless legs syndrome (RLS), a highly prevalent neurological condition that greatly impairs the quality of life of affected individuals. This behavioral pattern, characterized by the habit of moving one’s legs and feet, may be an important confounding factor in the diagnosis of RLS. Objective: To describe the main movements associated with this benign behavioral state to characterize a possible clinical condition that can contribute to the differential diagnosis of RLS. Methods: Experienced sleep specialists, who primarily see RLS patients listed the most frequent movements people without RLS report while describing their suspected RLS. We first compiled a list of the lower-limb movements described by the specialists. Then, one of the authors (KC) carried out all movements of the list on camera to obtain a video footage. This footage was sent to one of the authors, EPC, who, alongside a group of students, drew graphic representations (cartoons) of the recorded movements. Results: The panel of sleep experts described 13 leg movements commonly reported by their patients. The experts reported 11 simple movements and two combined movements. Conclusion: In this study we developed an instrument that allows us to oppose and distinguish a pathological condition (RLS) from a behavioral phenomenon. This state of behavioral leg fidgeting needs to be better characterized and may eventually be recognized as a clinical entity per se.
DOI: 10.6084/m9.figshare.11965656
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.11609304
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.