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Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty-one LGMD2G/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C>T/(p.Gln53*) variant in TCAP. Survival curves showed that the median disease duration before individuals required walking aids was 21 years. Notably, women exhibited a slower disease progression, requiring walking aids 13 years later than men. LGMD2G/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication., Competing Interests: There is no conflict of interest to declare., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

Background:   Myasthenia gravis (MG) is an autoimmune disease usually caused by antibodies against the acetylcholine receptor (AChR-Abs), muscle-specific tyrosine kinase (MuSK-Abs), or low-density lipoprotein receptor-related protein 4 (LRP4-Abs). However, there are MG patients who do not have these antibodies and are thus said to have triple-seronegative (triple-SN) MG., Objective:  This study aims to describe the frequency and clinical and epidemiological characteristics of patients with triple-SN MG., Methods:  This was a retrospective cross-sectional study carried out through the analysis of medical records. Descriptive and analytical statistical analysis was performed comparing subgroups of myasthenic patients, classified according to serological profile., Results:  The sample population consisted of 93 MG patients: 85 were positive for antibodies, 80 (86%) with AChR-Abs, 5 (5.4%) with MuSK-Abs, and no MG patients with LRP4-Abs. Eight patients (8.6%) had triple-SN MG; they had a median age at disease onset of 30 years (21-45). Their most common initial symptoms were ptosis, diplopia, and generalized weakness. Most patients presented with mild symptoms at their last visit, reflecting a median MG composite scale score of 4 (0-6), and 75% of patients had an adequate response to treatment., Conclusion:  Our study showed a low frequency of triple-SN MG in Brazilian MG patients. Triple-SN MG was predominant in females, who presented with ptosis, diplopia, and generalized weakness, and most patients had an adequate response to immunosuppressive treatment. There was no significant difference between triple-SN MG and the other subgroups., Competing Interests: There is no conflict of interest to declare., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

Background: Listeriosis is a known cause of community acquired bacterial meningitis/meningoencephalitis. It occurs more frequently in neonates, older people and immunocompromised hosts. Rarely, brain abscesses can complicate the course of infection, which poses a difficulty in the management and elevates morbidity and mortality. Myasthenia gravis is an autoimmune disease that often requires immunosuppressive treatment, which increases the risk for invasive infections., Case Description: A 75-year-old myasthenic patient, treated with prednisone and pyridostigmine, was diagnosed with invasive listeriosis. He presented with muscle weakness, dyspnea, hemiparesis and altered mental status. Brain imaging revealed multiple abscesses and blood cultures were positive for Listeria monocytogenes . Despite combination antibiotic therapy, he died 6 weeks after admission., Systematic Review: Ninety-six cases of brain abscesses from 1968 to 2023 were reviewed; the majority of the patients were men, 54 years-old on average, and had at least one risk factor for invasive listeriosis. The mortality exceeded 22%. Blood cultures and CSF/abscess cultures were positive in only 79.2% and 54.6%, respectively. The most common therapeutic approach was a combination regimen that included amoxicillin or ampicillin. Only 8 patients underwent surgery, of which one died., Conclusion: This case highlights the importance of L. monocytogenes as a cause of brain abscesses in populations at risk, including myasthenic patients. The challenge of diagnosing and treating this condition is aggravated by the paucity of literature and the high mortality rate., Competing Interests: Conflicts of interest: None.

Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3-R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5 , CAPN3 , DYSF , FKRP , SGCA , SGCB , SGCG , and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort., Competing Interests: The authors have no conflict of interest to declare., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)

We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue fasciculation and atrophy, due to a mutation at serine 331 in the SPTLC1 gene. HSAN-1A manifestation causing tongue fasciculation and atrophy have been rarely found. Our report adds to the growing evidence of the existence of an overlap between hereditary neuropathy and motor neuron disease caused by pathogenic p.S331Y variant in SPTLC1 gene., (© 2023. Fondazione Società Italiana di Neurologia.)

Background: Stroke is the second leading cause of death and disability around the world., Objective: The purpose of this study is to evaluate the age- and sex-specific mortality rates related to stroke in the state of Paraná, Brazil, between 2007 and 2016., Methods: In this cross-sectional study, residents in the state of Paraná were selected by death certificates (from 2007-2016); the basic cause of death was stroke. A descriptive analysis was performed, and mortality rates were calculated with a 95% confidence interval (95% CI) for each year., Results: From 2007 to 2016, there were 62,607 deaths in the state of Paraná due to stroke. Most individuals had medical assistance before death (85.7% in 2007 versus 83.9% in 2016), and most of these deaths occurred in hospitals (73.6% in 2007 versus 74.8% in 2016). Death rates due to stroke increased from 138 (95% CI 135-142) to 163 (95% CI 159-166) per 100,000 inhabitants. This raise occurred mainly in those over 79 years old. For the ages groups of 34 to 44 and 44 to 54 years, mortality rate decreased., Conclusions: In the past 15 years, despite the advances in the diagnosis and treatment of stroke, there has been an increase in mortality due to stroke in the state of Paraná. This fact is possibly associated with the aging of the population because there was a more pronounced increase in the group over 79 years old. Thus, new health strategies are necessary to improve the survival and quality of life of poststroke individuals., Competing Interests: The authors have no conflict of interests to declare., (Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)

Background: Neurology is a high-demand specialty with long waiting lines. Some pathologies require rapid decision-making. Through technology, telemedicine can allow neurological patients to have faster access to specialized assessment. In store-and-forward telemedicine, the specialist physician evaluates data collected by a general practitioner and optimizes screening., Objective: The aim of the present study is to evaluate the effectiveness of asynchronous telemedicine, used to refer patients from primary care to neurology, in the city of Curitiba, in southern Brazil., Methods: A retrospective analysis of all patients referred from primary care to neurology between September 2019 and February 2020. After a request is made by a general medical doctor for a specialist's opinion, 5 neurologists with complete access to patients' records are tasked with the decision-making. The main variables analyzed were clinical reasons for telemedicine request, neurologist decision, final diagnosis, indication for diagnostic procedures, and subsequent follow-up., Results: Between September 2019 and February 2020, 1,035 asynchronous telemedicine consultations were performed. Headache (30.43%), epilepsy (19.03%), and dementia (15.85%) accounted for almost two-thirds of the primary care requests; one-third of the cases (33.62%) required a complementary diagnostic procedure. More than 70% of the cases did not require face-to-face assessment by a neurologist., Conclusions: In this study, store-and-forward teleneurology successfully reduced the need for in-visit consultation in 70% of cases. Further studies should identify the best opportunities for teleneurology in the city of Curitiba to facilitate better integrated care between primary care providers and neurologists., Competing Interests: The authors have no conflict of interests to declare., (Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)

Background: Polyneuropathies are characterized by a symmetrical impairment of the peripheral nervous system, resulting in sensory, motor and/or autonomic deficits. Due to the heterogeneity of causes, an etiological diagnosis for polyneuropathy is challenging., Objective: The aim of this study was to determine the main causes of polyneuropathy confirmed by electrodiagnostic (EDX) tests in a tertiary service and its neurophysiological aspects., Methods: This observational cross-sectional study from a neuromuscular disorders center included individuals whose electrodiagnostic tests performed between 2008 and 2017 confirmed a diagnosis of polyneuropathy. Through analysis of medical records, polyneuropathies were classified according to etiology and neurophysiological aspect., Results: Of the 380 included patients, 59.5% were male, with a median age of 43 years. The main etiologies were: inflammatory (23.7%), hereditary (18.9%), idiopathic (13.7%), multifactorial (11.1%), and diabetes (10.8%). The main electrophysiological patterns were axonal sensorimotor polyneuropathy (36.1%) and "demyelinating and axonal" sensorimotor polyneuropathy (27.9%). Axonal patterns showed greater etiological heterogeneity, with a predominance of idiopathic and multifactorial polyneuropathy, while demyelinating and "demyelinating and axonal" polyneuropathies had a significantly fewer etiologies, with a predominance of hereditary and inflammatory polyneuropathies., Conclusion: The main causes of polyneuropathy confirmed by EDX test in this study were those that presented a severe, atypical and/or rapidly progressing pattern. Other causes were hereditary and those that defy clinical reasoning, such as multiple risk factors; some polyneuropathies did not have a specific etiology. EDX tests are useful for etiological diagnosis of rare polyneuropathies, because neurophysiological patterns are correlated with specific etiologies.

Objective: In 1951, the physiologist George Duncan Dawson presented his work with the averaging of the signal in the evoked potentials (EPs), opening a new stage in the development of clinical neurophysiology. The authors present aspects of Professor Dawson's biography and a review of his work on the EPs and, mainly, the article reveals the new technique in detail that would allow the growth of the clinical application of the visual, auditory, and somatosensory EPs.

We reported one patient with Charcot-Marie-Tooth type 4C (CMT4C) who developed seropositive myasthenia gravis. Neuromuscular junction alterations in CMT4C patients have not yet been reported. However, few patients have been reported to simultaneously have MG and CMT, but none with CMT4C. Our report suggests that additional research is required to confirm whether genetic neuropathies may predispose to MG., (© 2021. Fondazione Società Italiana di Neurologia.)

Background: Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG)., Objective: The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort., Methods: The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool., Results: We performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe)., Conclusions: This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.

Background: Neuromyelitis optica spectrum disorders (NMOSDs) are rare antibody-mediated disorders of the central nervous system, with a predilection for the spinal cord and optic nerves. The clinical utility of evoked potential recordings (EPs) has already been established for multiple sclerosis, in particular, that of the abnormal visual evoked potentials (VEP), a key criterion in the McDonald diagnostic criteria for MS. However, there have been few reports on EPs in patients with NMOSD., Aim: The aim of our study was to assess the possible involvement of the optical pathway through VEP responses in patients with NMOSD., Methods: VEPs were prospectively performed in 13 patients with NMOSD. All the patients were recruited from the outpatient clinic of a demyelinating diseases center. The recording was done as recommended by the International Federation of Clinical Neurophysiology., Results: We evaluated the eyes of 12 women with a mean age of 42 years and of one man who was 25 years old. In 6 of the examined eye samples, a response was not obtained, while in the remaining 20 eye samples, we found a significant increase in P100 latency without amplitude change., Conclusion: VEPs showed a significant increase in P100 latency. VEP assessment is a non-invasive, painless, fast, and low-cost exam that provides neurophysiological data for diagnosis of NMOSD., Competing Interests: Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2021.)

The authors present a review of the current use of somatosensory evoked potentials (SSEPs) in neurological practice as a non-invasive neurophysiological technique. For this purpose we have reviewed articles published in English or Portuguese in the PubMed and LILACS databases. In this review, we address the role of SSEPs in neurological diseases that affect the central nervous system and the peripheral nervous system, especially in demyelinating diseases, for monitoring coma, trauma and the functioning of sensory pathways during surgical procedures. The latter, along with new areas of research, has become one of the most important applications of SSEPs.

This paper reviews some aspects of the life and work of Professor Johann Friedrich Horner, on the occasion of the 190th anniversary of his birthday and 152 years after the publication of "Über eine Form von Ptosis". It also shows the importance of the historical description of ptosis, myosis and anhidrosis associating those symptoms with sympathetic cervical damage. He pharmacologically confirmed the impairment of sympathetic innervation to the eye and preserved parasympathetic function.

Myasthenia gravis (MG) is an autoimmune disease in which the peak incidence is among women of childbearing age. For this reason, there is an overlap between the occurrence of this disease and pregnancy. It is known that MG symptoms can worsen during pregnancy and postpartum, and that pregnancy has special characteristics in MG patients. Children born to myasthenic mothers are at risk of having transient neonatal myasthenia. We briefly review the main relationships between MG and pregnancy, and we make recommendations for MG therapy, pregnancy, delivery, breastfeeding and newborns.

We present a historical review, highlighting the role of Professor Derek Denny-Brown and doctor Joseph Buford Pennybacker in the development of current electromyography (EMG), of the 80 years since the publication of his original report in 1938 on fasciculation and fibrillation potentials and the subsequent studies describing most of the electrical changes necessary to perform and interpret the EMG.

Background: Hirayama's disease (HD) is characterized by an insidious onset asymmetric weakness and atrophy of the forearm and hand. Taking as a premise, the etiopathogenesis of the disease is attributed to forward displacement of posterior wall of lower cervical dural canal in neck flexion causing marked compression and flattening of lower spinal cord. This may result in compression of the posterior column of the spinal cord and seems likely to result in somatosensory evoked potentials (SSEPs) abnormalities. In the present study, we studied the possible involvement of the lemniscal dorsal pathway in patients with HD., Methods: SSEPs in upper and lower extremities were prospectively performed in eight patients with HD. All the patients were recruited from the outpatient clinic of a neuromuscular disorder center from South Brazil. SSEPs were obtained by transcutaneous electrical stimulation of the median and posterior tibial nerves, on both sides. We collected the amplitude and the latency of the different components obtained in each channel. The interpretation was based on Brazilian study standards., Results: We evaluated seven men and one woman (mean age 27). The data obtained were compared to a control group consisting of eight patients with spondylotic cervical myelopathy, 6 men and 2 women with mean age of 59 years. The measurements of obtained by the SSEP were also compared between the groups and no significant difference was found for any of them., Conclusion: SSEP did not turn out to be an electrophysiological marker in our HD patients., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Surgical Neurology International.)

Azathioprine (AZA) is the most common immunosuppressive drug used to treat myasthenia gravis (MG). To analyses the prevalence of thiopurine S-methyl-transferase (TPMT) genotypes and their association with adverse events due to azathioprine therapy in MG patients. Allele-specific polymerase chain reaction (PCR) and PCR with restriction fragment length polymorphism (RFLP) analysis were carried out to determine the prevalence of the most common TPMT genotypes (*2, *3A, *3B and *3C) in 50 MG patients from Southern Brazilian. The frequency of adverse reactions due to azathioprine therapy was analysed and correlated with different genotypes groups. The prevalence of TPMT gene variants was 12%. The allelic frequency of variant TPMT*2 (C238G), TPMT*3A (G460A/A719G), TPMT*3B (G460A), and TPMT*3C (A719G) genotypes was 1, 3, 2 and 1%, respectively. Adverse events occurred in 44%, of MG patients, of which 86% were minor and 14% were major. One patient, who presented a major adverse event (bone marrow suppression), was homozygous for the TPMT*3A genotype. Our study estimated the prevalence of TPMT genotypes for Brazilian MG patients. The profile of TPMT genotypes was different from other Brazilian populations. Hardy-Weinberg equilibrium and allelic frequencies of TPMT*3A and TPMT*3B, respectively, were different than expected, a finding that suggests a possible founder effect. Major adverse events were statistically significant for TPMT genotypes compared to wild-type. Although TPMT genotype has been associated with AZA-related adverse events, since no statistically significant difference among wild-type and other TPMT genotypes for minor adverse events, our study supports the view that TPMT genotype alone is not enough to adequately personalise the AZA therapy in MG patients. In conclusion, these results were important to characterise the prevalence of TPMT gene variants in MG patients treated with AZA and correlate the adverse events of this therapy in a real-world outpatient clinic from Southern Brazil., Competing Interests: Declaration of Competing Interest There are no conflicts of interest to declare., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Congenital myasthenic syndromes (CMS) associated with pathogenic variants in the DOK7 gene (DOK7-CMS) have phenotypic overlap with other neuromuscular disorders associated with limb-girdle muscular weakness (LGMW). Genetic analysis of the most common mutation (c.1124_1127dupTGCC) in DOK7 was performed in 34 patients with "unexplained" LGMW associated with non-specific changes in muscle biopsy. Of the 34 patients, one patient showed the DOK7 c.1124_1127dupTGCC variant in homozygousity. Our study estimates the minimum prevalence of undiagnosed DOK7-CMS to be 2.9% in southern Brazilian patients from our centre. Our data confirm that clinicians should look for DOK7-CMS patients when the clinical manifestation is an 'unexplained' LGMW, mainly if associated with non-specific changes in muscle biopsy., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020. Published by Elsevier Ltd.)

Currently, pyridostigmine bromide is an indispensable anticholinesterase agent used worldwide to treat patients with Myasthenia Gravis (MG). However, pyridostigmine bromide was unsuccessful in its "pioneering trials" to treat a series of MG patients. There are important historical landmarks before pyridostigmine bromide becomes useful, safe and indispensable for MG therapy. After 70 years of these "pioneering trials", this article reviews some historical aspects related to them, as well as other preliminary trials using pyridostigmine bromide as therapy for MG patients.

This paper reviews aspects of the life and work of Professor Louis Ranvier 140 years after the publication of Leçons sur l'histologie du système nerveux, published in 1878, and shows the importance of the histological description of myelinated fibers of the nodes of Ranvier.

In this review, we discuss the therapies used in the treatment of patients with Duchenne muscular dystrophy since the first description of the disease. A short description is given of the various theories based on disease pathogenesis, which give the substrates for the many therapeutic interventions. A brief review of the methods of evaluation used in therapeutic trials is made. Of all the treatments, the only drugs that are still considered able to modify the course of the disease are the corticosteroids (prednisone/prednisolone/deflazacort). Other drugs (coenzyme Q10 and creatine) have had a little effect in a few functions without adverse reactions. Idebenone seems to improve the respiratory function in the long term. The trials with mRNA transcription, through nonsense mutations or exon 51 skipping, show some beneficial results in a few functional tests, but they are limited to a small set of DMD patients.

Left ventricular systolic dysfunction (LVSD) is a common finding in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies. Novel echocardiographic techniques have been used for the detection of LVSD in several heart diseases. We aim to compare cardiac anatomic and functional data studied by three-dimensional (3DE) and two-dimensional (2DE) echocardiography and to analyze the myocardial strain for the detection of early LVSD in DMD and BMD patients. We performed a cross-sectional study of 46 DMD and 14 BMD patients. We measured left atrium volume and left ventricle volumes and ejection fraction using 3DE and 2DE techniques. Myocardial strain analysis was derived from global longitudinal strain (GLS) measurements. GLS was measured by 2DE with the speckle tracking technique. The correlation between 3DE and 2DE for the measurement of left atrium volume as well as left ventricle diastolic and systolic volumes was strong. 2DE presented larger left atrium and left ventricle volumes. Left ventricle ejection fraction was similar between the two techniques. Myocardial strain analysis was able to detect early LVSD in 50.0% of DMD patients and in 9.1% of BMD patients. In conclusion, two-dimensional echocardiography appears to be a good alternative for the anatomical and functional evaluation of the left heart chambers in DMD and BMD patients. Myocardial strain analysis detects early LVSD in a sizable portion of patients with dystrophinopathies., (Copyright © 2018 Elsevier Inc. All rights reserved.)

The aim of the study was to analyze the long-term recurrence rate in patients with a first-ever ischemic stroke secondary to intracranial large artery atherosclerosis (LAA) in a Brazilian population., Methods: All stroke patients admitted to the hospital between October 2012 and September 2015 were evaluated. The stroke mechanism subtypes were classified as cardioembolism, LAA, small-vessel occlusion, other determined etiologies, and stroke of undetermined etiology., Results: The 359 first-ever ischemic stroke patients were followed up for a mean time of 21.6 ± 15.1 months. The LAA intracranial (38.9%) and extracranial (24.6%) stroke patients presented with a higher stroke recurrence. Intracranial LAA [HR, 10.2 (3.6-29.1); p < 0.001] and extracranial LAA [HR, 5.05 (1.79-14.2); p = 0.002] were the only conditions to show positive correlation with the recurrence rate, after adjusting for risk factors, thrombolysis, and National Institutes of Health Stroke Scale score at admission., Conclusion: Intracranial LAA presents a higher incidence of recurrence of ischemic stroke when compared with other etiologies in a Southern Brazilian population.

HIV-associated motor neuron disease (MND), or amyotrophic lateral sclerosis (ALS)-like syndrome associated with HIV infection, is a rare manifestation of HIV infection. HIV-associated MND has only been identified in few cases to date. We analysed two Brazilian patients with HIV infection who developed MND. The diagnosis of HIV infection was concomitant with diagnosis of MND in one patient and it occurred eight years before the MND symptoms in another patient. The manifestation of MND in our patients with HIV infection was similar to classic ALS. The antiretroviral therapy improves their HIV infection. However, slow progression of MND occurred in the two patients despite their antiretroviral therapy or HIV viral load (undetectable). We revised the international literature (PubMed database) of the patients reported with MND and HIV infection., (Copyright © 2018. Published by Elsevier B.V.)

Introduction: Early detection of left ventricular systolic dysfunction (LVSD) is important for therapeutic strategies for Duchenne muscular dystrophy (DMD) patients. We analyzed myocardial strain using echocardiography for early detection of LVSD and determined the predictors of early LVSD., Methods: This investigation was a cross-sectional study of 40 DMD patients with normal left ventricular ejection fraction. Global longitudinal strain (GLS) was used to analyze subtle disturbances in longitudinal contraction of the myocardium. Patients were determined to have early LVSD (GLS > -18) or normal left ventricular systolic function (GLS ≤ -18)., Results: Patients who had early LVSD were older and had a higher frequency of corticosteroid therapy and of mutations in exons 45, 46, 47, 48, 49, 50, and 52., Discussion: Myocardial strain measurements are useful for the early diagnosis of LVSD in DMD patients. Older age, use of corticosteroids, and mutations within the "hot-spot" region of the DMD gene are associated with early LVSD. Muscle Nerve, 2018., (© 2018 Wiley Periodicals, Inc.)

Objectives: Stroke is one of the most common causes of disability-adjusted life years worldwide. The aim of this study is to identify variables associated with dependence at 3 months and also after the first 3 months after the first-ever ischemic stroke (IS) in middle cerebral artery (MCA) territory submitted to intravenous thrombolysis (IVT)., Methods: A single-center cohort study of patients with first-ever MCA IS treated with IVT at the Hospital de Clínicas, Universidade Federal do Paraná, was followed over 5 years. Logistic regression was performed to determine predictors of early and late dependence., Results: A total of 144 patients were included; 48.6% women, and 47.2% were dependent at 3 months after stroke. NIHSS at admission (OR = 1.3, 95%CI = 1.16-1.45, p < 0.001), large artery atherosclerosis (LAA) stroke (OR = 4.11, 95%CI = 1.31-12.85, p = 0.014) and pneumonia during hospitalization (OR = 9.17, 95%CI = 1.42-59.07, p = 0.019) were predictors for early dependence. For the late dependence analyses, 99 patients were included; 49.5% women and 39.4% were dependent after 3 months of stroke. NIHSS at admission (OR = 1.33, 95%CI = 1.15-1.54, p < 0.001), pneumonia during hospitalization (OR = 11.08, 95%CI = 1.45-84.73, p = 0.019) and seizure after discharge (OR = 5.82, 95%CI = 1.06-32.01, p = 0.040) were predictors for late dependence., Discussion: .Dependence is an important indicator of the efficacy of stroke care. Besides it was not possible to evaluate rehabilitation, this is the first study on predictors of post-stroke dependence that focus exclusively on patients with first-ever MCA IS submitted to IVT. NIHSS, LAA stroke, in-hospital pneumonia and seizures after discharge were associated with dependence after first-ever MCA IS submitted to IVT.

The relationship between myasthenia gravis (MG) and epilepsy has been rarely reported. As consequence, there are no specific guidelines for the management of these conditions when they mutually occur. We reported on three patients in whom epilepsy and MG are coexisting, but in different clinical settings. Two patients were treated with antiepileptic drugs which improved their symptoms. One patient has controlled the seizures after a successful anterior temporal lobectomy with no appreciable consequences to her MG. We discuss the difficulties in the management of epilepsy in patients with MG. In addition, we report on the first epileptic surgery in a MG patient, indicating that this surgical procedure as a safe option for the treatment of intractable epilepsy in patients with MG., (Copyright © 2017. Published by Elsevier Ltd.)

Early risk stratification of mortality and dependence is important for guiding medical decision-making in stroke care. The study aim is to evaluate whether there are any differences between risk factors for in-hospital mortality and dependence at discharge in patients with first-episode ischemic stroke in the middle cerebral artery (MCA) receiving intravenous thrombolysis (IVT) treatment. The study comprised a single-center cohort of patients admitted consecutively for first-episode MCA ischemic stroke. A logistic regression analysis was performed to determine the variables associated with in-hospital mortality and dependence at discharge. We included 169 patients (50.9% women) with a mean age of 64.1 ± 12.9 years and a median National Institute of Health Stroke Scale (NIHSS) score of 13 (range 3-26) at admission. Nineteen patients (11.2%) died as inpatients [the main cause of death was found to be infection (47.4%)]. The independent predictors for in-hospital mortality were: age (OR 1.09, 95% CI 1.03-1.15, p = 0.004) and NIHSS score (>17) at admission (OR 1.17, 95% CI 1.05-1.30, p = 0.004). Two other crude models used to analyze in-hospital mortality (age and symptoms-to-needle time, and age and symptomatic intracerebral hemorrhage) were significant. NIHSS score (>11) at admission (OR 1.29, 95% CI 1.17-1.42, p < 0.001) and large artery atherosclerosis stroke (OR 3.10, 95% CI 1.10-8.76, p = 0.031) were independently associated with dependence at discharge. Overall, the predictors for mortality and dependence in patients with first-episode MCA ischemic stroke treated with IVT were different. This knowledge might help to improve the management of this devastating disease.

Background and Purpose: Ischemic stroke is one of the most frequent causes of death in Brazil. Many measures have been taken to reduce this tragic outcome, and one of those is the implementation of stroke units in hospitals. The aim of the present study is to analyze the in-hospital complications for patients with ischemic stroke admitted in a comprehensive stroke ward (CSW) as compared to patients admitted in a mixed rehabilitation ward (MRW)., Methods: A retrospective interventional study with historic controls of patients admitted to the Neurology Division between January 2010 and October 2013. Patients admitted between January 2010 and September 2012 were included in the MRW group, and patients admitted from October 2012 until October 2013 were included in the CSW group. Throughout the whole study period, the same team assisted all the patients. Both groups were paired in relation to age and gender. The rate of in-hospital complications, mortality, and independency on discharge were evaluated in both groups., Results: Each group was comprised of 91 patients. There were no statistically significant differences for any of the risk factors analyzed between the 2 groups nor for outcome measures-in-hospital complications, mortality, and independence on discharge., Conclusion: The present study demonstrated that in-hospital complications, independence on discharge, and mortality have similar rates in patients admitted to an MRW compared to patients admitted to a CSW, when the same staff provided them with specialized in-hospital care., Evidence Level: Case-control study-Evidence Level 3., Competing Interests: Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

This study aimed to analyze the outcome and impact of pregnancy in women with myasthenia gravis (MG). Obstetric and clinical data were retrospectively analyzed before, during and after pregnancy. Predictors of outcome were studied. We included 35 pregnancies from 21 MG patients. In the course of MG symptoms in 30 pregnancies with live births, 50% deteriorated (mainly during the second trimester, p = 0.028), 30% improved, and 20% remained unchanged. The deterioration group had more frequent abnormal repetitive nerve stimulation (RNS) (p = 0.028) and lower myasthenia gravis composite (MGC) scores (p = 0.045) before pregnancy. The improvement group was associated with higher MGC scores (p = 0.012) before pregnancy. The no-change group was associated with longer duration of MG (p = 0.026) and normal RNS (p = 0.008) before pregnancy. The course of MG in the second pregnancy was different from that in the previous pregnancy in 65.3% of cases. Obstetric complications were reported in 20 pregnancies; the most common was preterm premature rupture of membranes (PPROM) (25.8%), and the most severe were abortion (11.4%) and fetal death (2.9%). Most of the patients delivered via caesarean section (66.7%). Spinal anesthesia was performed in 73.3%. Transient neonatal myasthenia gravis occurred in 12.9% of live-born infants, and no predictors were found. In conclusion, severity and duration of MG, RNS and treatment influence MG and pregnancy. Pregnant MG patients have greater rates of PPROM and caesarean delivery. Our data suggest that duration of MG, MGC and RNS before pregnancy may be useful in helping to predict the course of MG during pregnancy., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Background and Purpose: Prognostic factors related to mortality rates after stroke have been reported; however, most studies included different treatments and did not focus solely on ischemic stroke. The study aimed to report the short- and long-term survival and predictors of death in patients with first-ever ischemic stroke in the middle cerebral artery (MCA) territory, submitted to intravenous thrombolysis (IVT)., Methods: A prospective observational cohort study of patients with first-ever ischemic stroke in the MCA territory treated with IVT from March 2010 to February 2015 was conducted, and patients were followed up until May 2015. The Kaplan-Meier method was used to estimate the cumulative case fatality rates. The potential prognostic factors were identified using Cox proportional hazards regression analysis., Results: A total of 169 patients, 51% women of mean age of 64.1 ± 12.9 years were followed up for a median time of 23.6 (8.1-36.2) months. At the end of the study, 53 (31.4%) patients had died. The estimated cumulative case fatality rate was 41.8% for 5 years. Chronic heart failure (hazards ratio [HR] 2.89, 95% CI 1.43-5.84, p = 0.003), atrial fibrillation (HR 3.88, 95% CI 1.30-11.57, p = 0.015), and symptomatic intracerebral hemorrhage (SICH; HR 7.83, 95% CI 3.43-17.92, p < 0.001) were significant unfavorable independent outcome predictors. The most frequent cause of death was infection (46%)., Conclusions: Stroke in the MCA territory has a high mortality rate, even in patients treated with IVT. SICH, atrial fibrillation, and chronic heart failure are modifiable factors related to cardioembolism that need to be aggressively targeted for improved outcomes after stroke., (© 2017 S. Karger AG, Basel.)

The door-to-needle time is an important goal to reduce the time to treatment in intravenous thrombolysis. Objective Analyze if the inclusion of an exclusive thrombolytic bed reduces the door-to-needle time. Method One hundred and fifty patients admitted for neurological evaluation with ischemic stroke were separated in two groups: in the first, patients were admitted in the Emergency Room for intravenous thrombolysis (ER Group); in the second, patients were admitted in an exclusive thrombolytic bed in the general neurology ward (TB Group). Results Sixty-eight (86.0%) patients from TB Group were treated in the first 60 minutes of arrival as compared to 48 (67.6%) in the ER Group (p = 0.011). Conclusion The introduction of a thrombolytic bed in a general hospital setting can markedly reduce the door-to-needle time, allowing more than 85% of patients to be treated within the first hour of admission.

This study analyzes the use of sodium nitroprusside (SN) as an option to reduce blood pressure (BP) below 180/105 mmHg during the management of acute ischemic stroke (AIS) in patients submitted to intravenous thrombolysis.Method The sample was composed by 60 patients who had AIS and were submitted to intravenous rtPA, split in two groups: half in the control group (CG) with BP < 180/105 mmHg and half in SN group with BP > 180/105 mmHg. Outcome variables were any hemorrhagic transformation (HT); the presence of symptomatic HT, National Institute of Health Stroke Scale (NIHSS) after 24 hours of treatment; the independence on discharge and death until three months after stroke onset.Results There were no statistical differences between both groups to any of the outcome variables analyzed.Conclusion The SN might be safe for BP control during thrombolysis to AIS.

Unlabelled: The impact of the side in middle cerebral artery (MCA) ischemic stroke is not well established. Our aim was to analyze the differences between right (RMCA) and left middle cerebral artery (LMCA) stroke in patients submitted to intravenous thrombolysis and the influence of the affected side in the patient's mortality after 3 months., Method: Patients with MCA ischemic stroke submitted to intravenous thrombolysis from March 2010 to December 2011 at two Brazilian Stroke Centers were included. Differences between patients with RMCA and LMCA stroke were identified by univariate analysis., Results: Forty-five patients with RMCA stroke and 67 with LMCA stroke were analyzed. Patients with LMCA had a higher incidence of atrial fibrillation (p = 0.031), although patients with RMCA more often had a previous ischemic stroke (p = 0.034). The mortality over 3 months was similar for either side (OR = 1.20 ;0.37 - 4.29, p = 0.772)., Conclusion: The side of the MCA ischemic stroke did not influence the patients mortality.

Objective: To assess acute neurological complications and neurological sequelae of childhood acute bacterial meningitis in order to determine possible warning signs., Methods: This retrospective study evaluated children with acute bacterial meningitis (between 1 month and 14 years of age) admitted between 2003 and 2006., Results: Of the 44 patients studied, 17 (38.6%) had acute neurological complications. Seizure was the most frequent (31.8%) complication. Patients with acute neurological complications showed a higher frequency of lower neutrophil count (p = 0.03), seizure at admission (p < 0.01), and S. pneumoniae as the etiologic agent (p = 0.01). Risk factors for the development of acute neurological complications were S. pneumoniae (odds ratio [OR] = 6.4, confidence interval [CI] 1.7-24.7) and neutrophil count < 60% (p < 0.01). Of the 35 patients who were followed up, 14 had neurological sequelae (40%). Behavioral change (22.9%) was the most frequent sequela. Seizures at admission (OR = 5.6, CI 1.2-25.9), cerebrospinal fluid protein concentration > 200 mg/dL (p < 0.01), and cerebrospinal fluid glucose concentration/glycemia ratio (p < 0.01) were identified as risk variables for sequelae., Conclusion: Neutrophil count < 60%, seizure at admission, and S. pneumoniae as the etiologic agent were identified as warning signs for acute neurological complications, while protein levels, cerebrospinal fluid glucose concentration/glycemia ratio, and seizure at admission were seen as risk factors for neurological sequelae.

Objective: To determine the prevalence of smoking and the frequency of smoking cessation counseling among patients at a university hospital, as well as to compare smokers and former smokers in terms of smoking history., Methods: A cross-sectional study involving 629 patients at the Federal University of Paraná Hospital de Clínicas, located in the city of Curitiba, Brazil., Results: Of the 629 patients, 206 (32.7%) were male, 76 (12.1%) were smokers, 179 (28.5%) were former smokers, and 374 (59.5%) were nonsmokers. The mean age of the patients was 49.9 ± 15.0 years (range, 18-84 years). Of the 76 smokers and 179 former smokers, 72 (94.7%) and 166 (92.7%), respectively, were questioned about tobacco use. Smoking history and degree of nicotine dependence were higher among the former smokers (p = 0.0292 and p = 0.0125, respectively). Gender, age at smoking initiation, physician inquiry about tobacco use, and smoking cessation counseling were comparable between the two groups. The smoking cessation rate was 0.70. The prevalence of heavy smoking varied by gender and by age bracket, being higher in males and in the 41-70 year age bracket., Conclusions: The smoking prevalence in this group of patients was lower than that reported for patients at another university hospital, for adults in Curitiba, and for adults in Brazil. The smoking cessation rate was higher in these patients than in the general population of Curitiba. Smokers and former smokers differed regarding age, smoking history, and degree of nicotine dependence. Heavy smoking and a moderate or high degree of nicotine dependence were not obstacles to smoking cessation.