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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. Resumo Os autores apresentam uma revisão do uso atual do potencial evocado somatossensitivo (PESS) na prática neurológica como uma técnica neurofisiológica não invasiva. Revisamos artigos publicados em Inglês ou Português nas bases de dados PubMed e LILACS. Nesta revisão abordamos o papel do PESS nas doenças neurológicas que atingem o sistema nervoso central e o sistema nervoso periférico, especialmente, nas doenças desmielinizantes, no monitoramento do coma, do trauma e da função das vias sensitivas durante os procedimentos cirúrgicos, que se tornou uma de suas aplicações mais importantes, assim como novas áreas de pesquisa.

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. Resumo Miastenia gravis (MG) é uma doença autoimune cujo pico de incidência nas mulheres coincide com a idade fértil. Por esse motivo, existe uma sobreposição entre a ocorrência desta doença com a gestação. Sabe-se que os sintomas da MG podem piorar durante a gestação e no puerpério, e que a gestação possui características especiais em pacientes com MG. Existe também um risco de miastenia neonatal transitória em recém-nascidos de gestantes miastênicas. Nós revisamos brevemente as principais relações entre MG e gestação, e realizamos recomendações para o tratamento da MG durante a gestação, os cuidados durante a gravidez, incluindo a via de parto, e com o recém-nascido e com a amamentação.

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.

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 “Uber 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. Horner syndrome: tribute to Professor Horner [...]

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.

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.

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. RESUMO Os autores apresentam uma revisão histórica destacando o papel do Professor Derek Denny-Brown e do doutor Joseph Buford Pennybacker no desenvolvimento da eletromiografia atual, ao longo dos oitenta anos de seu artigo original em 1938, sobre potenciais de fasciculação e fibrilação, e os estudos subsequentes que descreveram a maioria das mudanças elétricas necessárias para realizar e interpretar EMG.

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.

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.

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.

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.

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. Resumo Atualmente, o brometo de piridostigmina é um indispensável agente anticolinesterásico usado em todo o mundo no tratamento de pacientes com Miastenia Gravis (MG). Contudo, o brometo de piridostigmina não foi bem-sucedido, em seus “ensaios clínicos pioneiros”, no tratamento de uma série de pacientes com MG. Existem importantes marcos históricos antes do brometo de piridostigmina se tornar útil, seguro e indispensável no tratamento da MG. Após 70 anos desses “ensaios clínicos pioneiros”, este artigo revisa alguns aspectos históricos a eles relacionados, bem como a outros estudos preliminares que usaram o brometo de piridostigmina como um tratamento para pacientes com MG.

Background Because MS-related fatigue could be associated with enhanced proinflammatory cytokine production, drugs with immunomodulatories properties, such as salbutamol, may represent an alternative treatment. We aimed to evaluate the effect of salbutamol on MS-related fatigue. Methods Thirty patients with relapsing-remitting MS who were between 18 and 69 years old, and suffering from fatigue, were evaluated with the Fatigue Severity Scale (FSS) and the Brazilian version of the neurological fatigue index for multiple sclerosis (NFI/MS-BR). They received salbutamol 2 mg twice a day or a placebo in a pilot randomized, double-masked placebo-controlled trial. The primary outcome was the change in the FSS score at the end of 90 days. The secondary outcome was the efficacy, represented by changes in their scores on the NFI/MS-BR subdomains (in the same period) and the Expanded Disability Status Scale (EDSS) at the end of 90 days. Results Thirty subjects were allocated to receive either salbutamol (14) or a placebo (16). There was no superiority of salbutamol over the placebo in the FSS outcome at 30 (p ==0.498), 60 (p = 0.854) and 90 (p = 0.240) days. There was no a significant decrease in the proportion of patients with severe or moderate fatigue in the salbutamol group at the end of the follow-up. The scores on the NFI/MS-BR and its subscales did not improve significantly with treatment. No significant difference was observed in the EDSS outcome (p = 0.313). No serious adverse events were found. An increase in heart rate was evident in the salbutamol group only in the first 30 days, but without statistical significance in relation to placebo (p = 0.077). Conclusion : Treatment with salbutamol does not improve fatigue in patients with relapsing-remitting MS.

McArdle disease (MD) is a metabolic myopathy caused by deficiency of the myophosphorylase enzyme. The aim of our study was to analyse a series of MD patients in Brazil and the correlation between clinical findings, laboratory data, electromyography, muscle biopsy and genetic features. The PYGM gene was analysed by PCR/RLFP and Sanger sequencing. The sample included 12 patients, aged 18–57 years, from unrelated families. Exercise intolerance was present in all cases. Serum creatine kinase levels at rest were increased in all patients. Forearm ischaemic exercise testing in five patients revealed no increase in venous lactate. Needle electromyography presented ‘myopathic pattern’ in six patients. Muscle biopsy showed vacuolar myopathy in 10 patients and deficiency of myophosphorylase enzyme in all patients. The genetic analysis showed p.R50X as the most common mutation (allelic frequency: 56.25%), other known mutations (p.Y574X, p.G205S, p.W798R, IVS14 + 1G > A and IVS19-1G > A) and a new mutation (p.Asn168Lysfs*15) were also identified. Several features of the disorder were similar to the vast majority of patients worldwide. The genetic findings of this study revealed a range of mutations that are quite similar to the European cohort. The discovery of one novel mutation increases the genotypic heterogeneity of PYGM gene.

This historical review describes the contribution of Drs. Lee M. Eaton and Edward H. Lambert to the diagnosis of myasthenic syndrome on the 60th anniversary of their pioneering article (JAMA 1957) on the disease. There are important landmarks in their article on a disorder of the neuromuscular junction associated with thoracic neoplasm and the electrophysiological criteria for Lambert-Eaton myasthenic syndrome (LEMS). After 60 years, the main electrophysiological criteria described in Eaton and Lambert's pioneering article are still currently useful in the diagnosis of LEMS.

Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with “unexplained” limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42; %INH: 87.22%). In this patient, genetic analysis confirmed two heterozygous mutations in the GAA gene (c.-32-13T>G/p.Arg854Ter). Our data confirm that clinicians should look for late-onset Pompe disease in patients whose clinical manifestation is an “unexplained” limb-girdle weakness even without vacuolar myopathy in muscle biopsy.

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX) and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments. Epilepsia mioclônica associada com fibras vermelhas rasgadas (MERRF) é uma rara doença mitocondrial. O critério diagnóstico para MERRF inclui as manifestações típicas da doença: mioclonia, epilepsia generalizada, ataxia cerebelar e fibras vermelhas rasgadas (RRF) na biópsia de músculo. Na fase inicial da doença, as manifestações clínicas podem não ser uniformes, e correlação entre as manifestações clínicas e fisiopatologia não estão completamente elucidadas. Estima-se que as mutações de ponto no gene tRNALys do DNAmt, principalmente a A8344G, sejam responsáveis por quase 90% dos casos de MERRF. As alterações morfológicas na biópsia muscular incluem uma grande proporção de RRF, fibras musculares com deficiência de atividade da citocromo c oxidase (COX) e presença de vasos com forte reação para succinato desidrogenase e deficiência da COX. Nesta revisão, são discutidas as principais manifestações clínicas e laboratoriais, imagens cerebrais, padrões eletrofisiológicos, histológicos e alterações moleculares, bem como, alguns dos diagnósticos diferenciais e tratamentos.

The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the “classical” pattern in two patients and a “variant” pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. Conclusion Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the “variant” pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis. O objetivo desse estudo foi analisar uma série de casos de pacientes brasileiros com doença de Niemann-Pick tipo C (NP-C). Método Correlação entre manifestações clínicas, alterações laboratoriais, estudo molecular e resposta ao tratamento foram realizadas. Resultado A amostra consiste de 5 pacientes com idade entre 8 e 26 anos. Paralisia do olhar vertical supranuclear, ataxia cerebelar, demência, distonia e disartria estavam presentes em todos os casos. Coloração de filipina na cultura de fibroblastos mostrou padrão “clássico” em dois pacientes e padrão “variante” em três casos. O estudo molecular encontrou mutações no gene NPC1 em todos os alelos. O tratamento com miglustate foi realizado em 4 pacientes. Conclusão Embora coloração de filipina seja utilizada para confirmar o diagnóstico, o histiócito azul-marinho no aspirado de medula óssea frequentemente auxilia a confirmar o diagnóstico de NP-C. A mutação p.P1007A está correlacionada com o padrão “ variante” na coloração de filipina. A resposta ao tratamento com miglustate parece estar correlacionada com a idade e escore de desabilidade no momento do diagnóstico.

The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies. One patient presented with persistent writer’s cramp after ulnar nerve palsy. Nerve conduction studies showed focal neuropathy in all patients and concomitant generalized symmetrical neuropathy in eight patients. Molecular analysis of the PMP22 gene detected deletion of the 1.5-Mb fragment in all patients.

Management of cardiac symptoms in myasthenia gravis (MG) patients can be challenging. The aim of this report is to describe the safe use of ivabradine for stable angina in MG patients. A 48 y.o. woman, with MG diagnosis, presented stable angina. Therapies choices were reduced considering concomitant disease as well as previous and unsuccessful cardiologic managements. Ivabradine showed unexpected results. The patient presented an improvement of neurological and cardiac symptoms, bringing ivabradine as one more therapeutic option to similar patients. In this report we recommend ivabradine as an effective and safe drug for treatment of stable angina in MG patients.

We studied multiple sclerosis (MS) patients with the HLA-DQB1*06:02 allele and compared them with MS patients who did not carry the HLA-DQB1*06:02 allele. We analyzed clinical and neurophysiological criteria for narcolepsy in six MS patients with HLA-DQB1*06:02, compared with 12 MS patients who were HLA-DQB1*06:02 non-carriers. Only two patients with HLA-DQB1*06:02 allele scored higher than 10 on the Epworth Sleepiness Scale. Polysomnography recording parameters and the multiple sleep latency test showed an absence of narcolepsy in the study group. Our study suggested no significant correlation between narcolepsy, MS and HLA-DQB1*06:02. The HLA-DQB1*06:02 allele alone was not sufficient to cause MS patients to develop narcolepsy. RESUMO Pacientes com esclerose múltipla (EM) portadores do alelo HLA-DQB1*06:02 foram estudados e comparados com pacientes com EM mas que não são portadores do alelo HLA-DQB1*06:02. Os critérios clínicos e neurofisiológicos para narcolepsia foram analisados em pacientes com EM sendo 6 pacientes com o HLA-DQB1*06:02 comparados a 12 pacientes sem o HLA-DQB1*06:02. Somente 2 pacientes com EM e HLA-DQB1*06:02 tiveram escore maior que 10 na escala “Epworth Sleepiness Scale”. Os parâmetros da polissonografia e o teste de múltiplas latências do sono mostraram ausência de narcolepsia no grupo estudo. Nosso estudo não sugere correlações significantes entre narcolepsia, EM e HLA-DQB1*06:02. Somente o HLA-DQB1*06:02 não foi suficiente para desenvolver narcolepsia em pacientes com EM.

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

Resumo Introdução: O ácido láctico é um subproduto do metabolismo muscular e do sistema nervoso central. As alterações no metabolismo estão relacionadas com diversas condições fisiológicas e patológicas. O objetivo deste estudo foi determinar a relação entre a enxaqueca e a fibromialgia com os níveis de ácido láctico no sangue. Métodos: Foram estudados 93 pacientes, divididos em cinco grupos: 1) fibromialgia (n = 20); 2) enxaqueca episódica (n = 20); 3) enxaqueca crônica (n = 20); 4) fibromialgia e enxaqueca episódica (n = 13); e 5) fibromialgia e enxaqueca crônica (n = 20), além de 20 indivíduos saudáveis (grupo controle). Os níveis sanguíneos de ácido láctico foram medidos em quatro momentos : em repouso, durante o exercício aeróbico, durante a atividade física anaeróbica e durante o descanso depois do exercício anaeróbico. Resultados: O ácido láctico aumentou em todos os grupos durante a atividade física anaeróbica, sem predominância em qualquer grupo. Durante a atividade física aeróbica, todos os grupos apresentaram um aumento nos níveis de ácido láctico, mas esse aumento foi mais expressivo nos grupos de enxaqueca crônica e enxaqueca crônica com fibromialgia, sem significância estatística. Conclusões: Não foram encontradas anormalidades que envolvessem o metabolismo do ácido láctico na enxaqueca episódica e crônica, na presença ou não de fibromialgia. Abstract Background: Lactic acid is a byproduct of both muscle metabolism and the central nervous system. Changes in metabolism are related to various physiological and pathological conditions. The aim of this study was to determine the relationship between migraine and fibromyalgia with the levels of lactic acid in the blood. Methods: We study 93 patients divided into five groups: (1) patients with fibromyalgia (n = 20); (2) episodic migraine (n = 20); (3) chronic migraine (n = 20); (4) fibromyalgia and episodic migraine (n = 13); and (5) fibromyalgia and chronic migraine (n = 20), and 20 healthy subjects (control group). Blood levels of lactic acid were measured at four different time points: at rest, during aerobic exercise, during anaerobic physical activity and while resting after anaerobic exercise. Results: Lactic acid increased in all groups during anaerobic physical activity without predominance for either group. During aerobic physical activity, all groups increased lactic acid levels, but the increase was more expressive in the chronic migraine group and the chronic migraine with fibromyalgia group without statistical significance. Conclusions: We did not found abnormalities involving the metabolism of lactic acid in episodic and chronic migraine with or without fibromyalgia.

The most common idiopathic inflammatory myopathies in children include juvenile dermatomyositis, juvenile polymyositis, and myositis associated with another autoimmune disease (overlap myositis). Idiopathic inflammatory myopathies manifest different characteristics affecting children. Only a few investigations of childhood idiopathic inflammatory myopathies were reported, involving 27 patients. In addition, clinical findings, serum muscular enzyme levels, results of electromyography studies, muscle biopsy features, and treatment responses were studied. Seventeen female and 10 male were classified as exhibiting juvenile dermatomyositis (n = 19), juvenile polymyositis (n = 6), or overlap myositis (n = 2). Overlap myositis was associated with systemic sclerosis and systemic erythematous lupus. The mean age at onset was 6.1 years for juvenile dermatomyositis, 4.9 years for juvenile polymyositis, and 8.5 years for overlap myositis. The most common signs included proximal weakness and myalgia. The serum creatine kinase level was increased in 48.2% of patients. An electromyography study revealed myopathic features in 85% of patients. Muscle biopsies led to observations of inflammatory infiltrates with preferential perivascular involvement in the juvenile dermatomyositis group, and endomysial involvement in the juvenile polymyositis group. Fiber atrophy was predominantly perifascicular in the juvenile dermatomyositis group. Treatment with prednisone improved the findings in 81.5% of children.

Few healthcare centers in Brazil perform thrombolytic therapy for acute ischemic stroke (AIS) patients. OBJECTIVE: The aim of this study was to describe an interinstitutional protocol for the rapid identification and thrombolytic treatment of AIS patients at a public health hospital in a large Brazilian city. METHOD: Emergency medical services (EMS) personnel evaluated 433 patients with possible stroke during a six-month period. After a standard checklist, patients with suspected AIS and symptoms onset of less than two hours were evaluated at our University Hospital (UH). RESULTS: Sixty-five (15%) patients met the checklist criteria and had a symptom onset of less than two hours, but only 50 (11%) patients were evaluated at the UH. Among them, 35 (70%) patients had ischemic stroke, 10 (20%) had hemorrhagic stroke, and 5 (10%) had other diagnoses. Of the 35 ischemic stroke patients, 15 (43%) underwent IV thrombolysis. CONCLUSION: The present study demonstrated that trained EMS workers could help to improve the rate of thrombolytic treatment in large Brazilian cities. Permanent training programs for EMS and hospital staff, with quality control and correct identification of AIS patients, should be implemented to increase appropriate thrombolytic therapy rates in Brazil. No Brasil, apenas alguns hospitais realizam terapia trombolítica para o acidente vascular cerebral isquêmico agudo (AVCiA). OBJETIVO: O objetivo deste estudo foi descrever um protocolo inter-institucional para a rápida identificação e para o tratamento trombolítico de pacientes com AVCiA em hospital público de Curitiba, PR. MÉTODO: O Serviço de Atendimento Médico de Urgência (SAMU) avaliou 433 pacientes com possível AVC durante um período de seis meses. Depois de um check list padrão, os pacientes com suspeita de AVCiA e início dos sintomas inferior a duas horas, foram avaliados no Hospital de Clínicas (HC). RESULTADOS: Sessenta e cinco (15%) pacientes preencheram os critérios propostos, porém apenas 50 pacientes (11%) foram avaliados no HC. Destes, 35 (70%) eram AVC isquêmico (AVCi), 10 (20%) eram hemorrágicos e 5 (10%) tiveram outros diagnósticos. Dos 35 pacientes com AVCi, 15 (43%) foram submetidos a trombólise IV. CONCLUSÃO: O presente estudo demonstrou que o treinamento do SAMU poderia auxiliar na otimização da terapia trombolítica em grandes cidades brasileiras. Programas permanentes de treinamento com controle de qualidade, caracterizados pela correta identificação de pacientes com AVCiA devem ser realizados nos hospitais em parceria com o SAMU para elevar as taxas de tratamento trombolítico no Brasil.

BACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.

BACKGROUND AND PURPOSE Agitated saline solution (AS) is the contrast agent (CA) of choice for the diagnosis of right-to-left shunt (RLS). The aim of this study was to compare AS to AS with blood (ASb) in the diagnosis and quantification of RLS by contrast-enhanced transcranial Doppler (cTCD). METHODS Forty-two patients were evaluated for RLS in both of the middle cerebral arteries (MCA) by cTCD. Both AS and ASb were used as CAs while the patient breathed spontaneously and during two different moments of a Valsalva maneuver. Embolus track (ET) counts were obtained from each MCA (MCA analysis) and from each patient (patient analysis). RESULTS In the MCA analysis, at least one ET was identified in 109 (43.2%) of the AS tests and 136 (54%) of the ASb tests (P= .016). The ET counts were higher with ASb (78.0 ± 117.6) than with AS alone (46.9 ± 66.7; P= .01). In the patient analysis, at least one ET was identified in 62 (49.2%) of the AS tests and 77 (61.1%) of the ASb tests (P= .057). Similar ET counts were generated with both CA solutions. CONCLUSIONS These findings support the inclusion of ASb as an option for RLS diagnosis in selected patients.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases.

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c.70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c.70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100000.

Objective To investigate the etiologic diagnoses of parkinsonism, underlining aspects of each form and comparing our findings with those published in a similar setting, 10 years before. Methods A large cohort of 1528 patients with parkinsonism was analyzed, gathering data on demography, motor and non-motor characteristics, as well as the final etiologic diagnoses based on established criteria. Results Parkinson's disease (PD) was the most common diagnosis representing 74.7%, followed by drug-induced parkinsonism (DIP) in 7.9%, vascular parkinsonism (VP) in 3.9%, other neurodegenerative disorders in 10%, and rare sporadic causes, divided as genetic, infectious and others, that summed 3.5%. Comparative analysis of these groups showed that each has particularities that extend beyond their diagnostic criteria. Conclusions The main conclusions are that the most important causes of parkinsonism in this setting are typical, with PD been the most common diagnosis, although other causes were frequent, encompassing one fourth of all cases. Although DIP was identified in a particularly large part of this cohort, this proportion is smaller than demonstrated previously in a Brazilian study conducted in the 90s. This decrease probably reflects higher awareness regarding the risk of this motor complication and the more widely used newer antipsychotics.

Background and purpose Patent foramen ovale (PFO) can be diagnosed by contrast-enhanced transcranial Doppler (cTCD), but no definitive criteria exist to correlate the results obtained from cTCD with diagnoses of PFO obtained by contrast-enhanced transesophageal echocardiography (cTEE). The aim of the present study was to analyze markers in the positive RLS by cTCD that confirm the PFO by cTEE. Methods Twenty-six stroke patients who had previously submitted to cTEE, 16 with PFO (PFO group) and 10 without PFO (no-PFO group), were evaluated for three markers based on a positive cTCD test. The number of microembolic signs (MES), the latency time (LT) to the first MES and the duration time (DT) of MES were evaluated to look for a difference between the PFO and no-PFO group. Results The PFO group had higher MES (80.9±124.5 vs. 10.2±25.6, p p =0.02) and longer DT (21.4±17.4 vs. 11.7±12.5, p =0.013) compared with the no-PFO group. Considering only MCA tests with more than 9 MES and LT shorter than 9s, 30% of patients from the PFO group had positive tests compared with no patients from the no-PFO group. This cutoff demonstrates a specificity and positive predictive value of 100%. Conclusions The rule of nine (>9 MES and LT

Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE: To carry out a clinical and genetic review of the main types of SCA. METHOD: The review was based on a search of the PUBMED and OMIM databases. RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. CONCLUSIONS: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.

Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. Patients were classified as having the typical form in five cases, intermediate form in two cases and severe form in one case. Histochemical analysis showed mixed rods distribution in all cases and predominance of type I fibers in five cases. Immunohistochemical analysis showed abnormal nebulin expression in all patients (four heterogeneous and four absent), homogeneous desmin expression in four cases, strongly positive in three and absent in one, fast myosin expression in a mosaic pattern in six cases and absent in two cases. There was no specific relation between these protein expression patterns and the clinical forms of NM.

OBJECTIVE: To examine auditory cognitive evoked potentials (P300 potentials) and neuropsychological dysfunction in patients with Duchenne muscular dystrophy (DMD). METHOD: P300 potentials and neuropsychological test results were obtained from 16 healthy control boys and 20 DMD patients. Full Intelligence Quotients (IQ) were estimated for patients and control group. Mean age was 9.5 years in the DMD patient group, and 10 years in the control group (p>0.05). RESULTS: The mean IQ values were 64.35 in the DMD patients and 82.68 in the control group (p=0.01). Mean P300 values were 347.6 in the DMD group and 337.4 in the control group (p=0.14). There was no significant correlation between parameters in each group. CONCLUSION: DMD patients showed a poor performance as evaluated by P300 potential compared to the control group, although the difference was not statistically significant. Systematic alterations in neuropsychological test results were found, the differences paralleling those detected in IQ. OBJETIVO: Avaliar potenciais evocados cognitivos auditivos (P300) e disfunções neuropsicológicas em pacientes com distrofia muscular de Duchenne (DMD). MÉTODO: Potenciais auditivos P300 e testes neuropsicológicos foram obtidos de 16 controles e 20 pacientes com DMD. Valores de quociente de inteligência (QI) foram estimados para os dois grupos. A media de idade foi de 9.5 anos no grupo DMD e 10 anos no grupo controle (p>0.05). RESULTADOS: Os valores médios de QI foram 64.35 no grupo DMD e 82.68 no grupo controle (p=0.01). A média de valores de P300 foi 347.6 no grupo DMD e 337.4 no grupo controle (p=0.14). Não houve correlação significativa entre os parâmetros em cada grupo. CONCLUSÃO: Os pacientes com DMD mostraram um pior desempenho nas testagens de P300 quando comparados com o grupo controle, embora a diferença não tenha apresentado diferença significativa. Alterações sistemáticas foram encontradas nos testes neuropsicológicos, correspondendo às alterações significativas vistas nos valores de QI.

Patients with Parkinson’s disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5%) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50%) of the patients had mild depression, 4 (25%) moderate depression and 4 (25%) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales. Os pacientes com doença de Parkinson (DP) cujo início dos sintomas ocorre até os 45 anos (DPIP), apresentam características clínicas que a diferem da doença de início tardio. Estudos têm sugerido que pacientes com DPIP têm maior incidência de depressão quando comparados aos de início tardio, mas sem definição de algum marcador específico da doença para depressão. Estudamos 45 pacientes com DPIP, para definir a freqüência da depressão e verificar possíveis diferenças entre os grupos com e sem depressão. A depressão foi diagnosticada em 16 (35.5%) pacientes estando acima da média da população geral, porém semelhante aos índices relatados pelos estudos de pacientes com DP de início tardio; 8 (50%) pacientes tinham depressão leve, 4 (25%) moderada e 4 (25%) estavam em remissão.Não houve relação da depressão com nenhuma das características clínicas da doença, embora apresentem complicações mais precoces da levodopaterapia, e sejam mais afetados nas escalas de Hoehn-Yahr, UPDRS e Schwab-England.

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G, are responsible for more of 80% of MELAS cases. Morphological changes seen upon muscle biopsy in MELAS include a substantive proportion of ragged red fibers (RRF) and the presence of vessels with a strong reaction for succinate dehydrogenase. In this review, we discuss mainly diagnostic criterion, clinical and laboratory manifestations, brain images, histology and molecular findings as well as some differential diagnoses and current treatments. RESUMOMiopatia mitocondrial, encefalopatia, acidose lática, e episódios semelhantes a acidente vascular cerebral (MELAS) é uma rara doença mitocondrial. Os critérios diagnósticos para MELAS incluem as manifestações típicas da doença: episódios semelhantes a acidente vascular cerebral, encefalopatia, evidência de disfunção mitocondrial (laboratorial ou histológica) e mutação conhecida em genes do DNA mitocondrial. Na fase inicial da doença, as manifestações clínicas podem não ser uniformes, e sua correlação com a fisiopatologia não está completamente elucidada. Estima-se que as mutações de ponto no gene tRNALeu(UUR) do DNAmt, principalmente a A3243G, sejam responsáveis por cerca de 80% dos casos de MELAS. As alterações morfológicas na biópsia muscular incluem uma grande proporção de fibras vermelhas rasgadas (RRF) e presença de vasos com forte reação para succinato desidrogenase. Nesta revisão, são discutidos os principais critérios diagnósticos, manifestações clínicas e laboratoriais, imagens cerebrais, padrões eletrofisiológicos, histológicos e alterações moleculares, bem como alguns dos diagnósticos diferenciais e tratamentos atuais.

Fibromyalgia (FM) is a disease that causes widespread pain and increased sensitivity to pain because of a dysfunction in the central nervous system. This study investigated the effect of music combined with vibration on acupuncture points for the treatment of FM.A total of 120 patients with FM were allocated randomly to four groups (30 patients each). One group listened to a sequence of Bach's compositions. The second group was subjected to vibratory stimuli on a combination of acupuncture points on the skin. The third group (complete) underwent both procedures in a simultaneous and synchronized manner, with inclusion of binaural beats. The fourth group (control) received no stimulation. The participants underwent the experimental procedure during five sessions performed on alternate days. They were assessed by the Fibromyalgia Impact Questionnaire (FIQ) and the Health Assessment Questionnaire (HAQ) before the first session and after the last session (20 days).All groups showed a significant improvement in FIQ and HAQ scores at the evaluation after the intervention. The complete group exhibited the best result on both the FIQ and HAQ (p0.001), and the improvement in HAQ score was significant (p0.004).The results suggest that the placebo effect in FM may be substantial. However, comparison between groups revealed that the complete group had the greatest reduction in both FIQ and HAQ, with a significant improvement in HAQ, suggesting that the combined use of music and vibration exerts a greater effect on FM symptoms.

OBJECTIVE: To determine the influence of the location of the irritative zone, and the number and the distribution of the intracranial calcifications in the severity of epilepsy associated with intracranial calcifications. METHOD: We studied 47 patients with epilepsy and intracranial calcifications, 24 with normal (Group A) and 23 with abnormal interictal EEGs (Group B), a control group (n=21) with abnormal interictal EEGs and normal CT-scans (Group C). Clinical, electroencephalographic and neuroradiological features were compared among groups. RESULTS: Temporal lobe interictal EEG abnormalities were found in 23/24 Group B patients, and in all Group C patients. Most Group B and Group C patients presented temporal lobe seizure symptomatology, whereas in most Group A patients symptomatology was rolandic (p=0.0001). Epilepsy was more severe in Group B and Group C patients than in Group A patients (p=0.0001 and p=0.0054). No relationship was found between the number of calcifications and epilepsy severity. CONCLUSION: An irritative zone at the temporal lobe is more relevant in determining the severity, symptomatology and frequency of seizures than the number and location of calcifications.

The slow-channel syndrome is one of the congenital myasthenic syndromes attributed to inherited kinetic disorders of the ion channel of the acetylcholine receptor of the neuromuscular junction. This is a case report of 25-years-old man with progressive ptosis and limitation of ocular movements since infancy, presented a 6-years history of worse of the external ophthalmoparesis and muscular weakness in the shoulders and hands. The motor nerve conduction studies after a supramaximal single stimulus disclosed a double compound muscle action potential (CMAP) that disappeared after a voluntary contraction of 30 seconds. Repetitive stimulation of facial and spinal accessory nerves showed a CMAP decrement greater than 10% with disappeared of the second potential. The patient received fluoxetine with mild improvement of muscular weakness, but persisted with: ptosis, limitation of ocular movements and repetitive CMAP in the motor nerve conduction study. The characteristic of disease are discussed.

RATIONALE: An estimate of 3 million people present with the diagnosis of epilepsy in Brazil. Psychogenic Nonepileptic Seizures (PNES) are likely to occur in up to 2-33/100.000 people. Paradoxically, very few papers address this significant condition in the Brazilian literature. We describe a Brazilian PNES population and provide a review of the literature. METHODS: we reviewed the clinical history, vídeo-electroencephalographic (VEEG) data, psychiatric diagnosis and prognosis in a series of 45 PNES patients, with emphasis on the demographics, as well as, PNES major clinical presentations and classification. RESULTS: PNES represent 5.2% of the patients referred to the VEEG monitoring at our institution; patients were mostly young with a mean age of 27y/o and a clear predominance of the female gender (78%); the majority of PNES last between 1-5 minutes, but duration was highly variable; 28/45 patients were referred due to "intractable epilepsy" and 14/28 had MR defined mesial temporal sclerosis; about a third of the patients present with the classically described PNES clinical presentation; conversive and dissociative seizures prevail on PNES classification (80%). CONCLUSIONS: clinical and VEEG data on this Brazilian population matches descriptions coming from other series, suggesting potential cross-cultural similarities in the clinical expression of this condition.

O Doppler transcraniano (DTC) é um método relativamente novo, descrito em 1982 por Rune Aaslid e introduzido no Brasil em 1992 por Roberto Hirsch, na Universidade de São Paulo. O serviço de Neurologia do Hospital de Clínicas da Universidade Federal do Paraná (HC-UFPR) disponibilizou esse exame em 2001, com divulgação das principais vantagens do método no diagnóstico, seguimento e manejo terapêutico de pacientes com suspeita ou portadores de doença cerebrovascular. O objetivo deste trabalho é demonstrar como o DTC vem sendo utilizado em nosso meio e quais são as especialidades médicas que vêm absorvendo o auxílio do método. Embora diretrizes como a publicada pela Academia Americana de Neurologia em 2004 validem as indicações do DTC, estabelecendo especificidade e sensibilidade do método, verificamos que a solicitação do exame em nosso meio depende da divulgação do serviço, da implementação de linhas de pesquisa e, finalmente, do reconhecimento de sua utilidade na prática diária. Transcranial Doppler (TCD) was described in 1982 by Rune Aaslid and introduced in Brazil in 1992 by Roberto Hirsh in the University of São Paulo. Since the acquisition of TCD by Neurology Division of Hospital de Clínicas of Universidade Federal do Paraná (HC-UFPR) in 2001, the knowledge about TCD clinical utility has been increasing for diagnosis, follow-up and management of patients with cerebrovascular diseases. The objective of this study is to describe the current TCD indications and medical specialties indicators in our hospital. Although guidelines as published by the American Academy of Neurology establish values for TCD study with method’s specificity and sensibility, we realize that the utility in our center depends on our efforts to show method’s beneficial in various clinical settings.

Pure neural leprosy (PNL) is often difficult to diagnose when acid-fast bacilli (AFB) cannot be detected. We undertook the present study to evaluate use of the polymerase chain reaction (PCR) in diagnosing PNL. Fifty-eight patients (41 men and 17 women) suspected of pure neural leprosy (PNL) were examined. Patients were classified as borderline tuberculoid (BT, 40 cases) and polar tuberculoid (TT, 18 cases) types. Nerve biopsy was performed and was positive for AFB in 20 patients (all BT patients), i.e., 34.5% of total cases. DNA was extracted from the nerve biopsy samples and amplified using PCR for a specific repeated sequence of DNA from Mycobacterium leprae. PCR analysis was positive in the nerve samples from 29 patients (50%), 27 of the BT type, and 2 of the TT type patients. Further, PCR analysis was positive in 14 of 38 cases that were negative for AFB by nerve biopsy, of which 12 were of the BT type and 2 the TT type. PCR analysis proved to be a useful method to investigate pure neural leprosy, enabling confirmation of the diagnosis in more than a third of the cases that were negative for AFB by nerve biopsy.

The increase in survival rates of patients affected by AIDS is associated with physical disabilities that can compromise their functional independence. We examined the degree and types of disabilities in hospitalized AIDS patients , as well the clinical and immunological parameters associated with disability. The lowered functional status was associated with increased time since AIDS had been diagnosed, with complaints of weakness, and with the involvement of more than one set of systems in the definition of AIDS. The inability to perform daily living activities was associated with higher viral loads (log) c/mL, lower CD4+/mL and CD4+/CD8+ ratios, and with involvement of the central nervous system, in the cause of hospitalization. Both the inability to perform daily living activities and low functional status were associated with muscle strength alteration and with being unemployed.

Paracoccidioidomycosis (PCM) is a chronic granulomatous infectious disease, whose etiologic agent is the fungus Paracoccidioides brasiliensis. The central nervous system (CNS) involvement with paracoccidioidomycosis (NPCM) occurs more frequently than has been admitted in the past. There are some major histocompatibility complex antigen association studies with systemic paracoccidioidomycosis. Some indicate a positive association with HLA antigens, but there is no study with the involvement of the CNS. To investigate why not all cases of systemic PCM show the involvement of the CNS and whether genetic factors are involved, we studied 6 patients with NPCM, from the neuroinfection outpatient clinic. The patients were typed for class I and class II antigens by a microlymphocytoxity standard test. The HLA antigen frequencies found in this study in patients with NPCM were not different from the alleles frequencies observed in the Paraná population.

BACKGROND: Blepharospasm (BS) is a form of central focal dystonia recently associated with psychiatric disorders, particularly obsessive and compulsive symptoms. Hemifacial spasm (HFS) represents a focal myoclonus with peripheral origin in the facial nerve. OBJECTIVE: To determine the frequency of obsessive and compulsive symptoms in patients with BS in comparison with patients with HFS. METHODS: 30 patients from each group (BS and HFS) followed by the botulinum toxin clinic at the HC-UFPR were evaluated using a structured interview based on the DSM-IV criteria and the Yale-Brown scale. RESULTS: were compared by the mean two-tailed t test. RESULTS: We found obsessive or compulsive symptoms in 20 (66.6%) patients with BE and 21 (70%) with HFS. Yale-Brown scale scores for each group were higher among BS patients; however, diferences were not statisticaly significant. CONCLUSION: Our study did not show a significant diference in the comparison of the prevalence of obsessive and compulsive symptoms among patients with BS and HFS. FUNDAMENTOS: Blefaroespasmo (BE) é uma forma de distonia focal central recentemente relacionada a desordens psiquiátricas, particularmente sintomas obsessivos e compulsivos. Espasmo hemifacial (EHF) representa uma forma de mioclonia com origem periférica, no nervo facial. OBJETIVO: Determinar a frequência de sintomas obsessivos e compulsivos em pacientes com BE em comparação com pacientes com EHF. MÉTODO: Foram avaliados 30 pacientes de cada grupo acompanhados no ambulatório de toxina botulínica do HC-UFPR, através de entrevista estruturada baseada nos critérios do DSM-IV e pela escala de Yale-Brown. Os resultados foram comparados pela média do teste de t de Student bicaudal. RESULTADOS: Observaram-se sintomas obsessivos ou compulsivos em 20 (66,6%) pacientes com BE e 21 (70%) pacientes com EHF. Os escores da escala de Yale-Brown em cada grupo foram maiores entre aqueles com BE, porém, as diferenças não foram estatisticamente significativas. CONCLUSÃO: Nosso estudo não evidenciou diferença significativa na comparação de prevalência de sintomas obsessivos e compulsivos entre pacientes com BE e EHF.

The critical flicker frequencies (CFF) of individuals with migraine with and without aura were determined and compared to those of normal controls. Twenty-six migraine patients, 12 with aura and 14 without aura and 30 healthy controls were included. Migraineurs were tested during a migraine-free period, through both the continuous flicker method (CFM) and the forced choice method (FCM). Migraineurs presented a mean flickering fusion threshold lower than healthy controls with the CFM (40.45 vs. 44.33, respectively; P = 0.019) and with the FCM (34.16 Hz vs. 38.5 Hz, respectively, P = 0.019). Both groups of migraineurs had significantly lower thresholds as compared to controls, migraineurs with aura presenting the lowest thresholds for the fusion of flickering ( P = 0.008 and P = 0.0001 with the CFM and the FCM, respectively). Results confirmed and extended previous observations of abnormal flicker fusion thresholds in migraineurs. We hypothesize that this finding might be related to a shorter cortical stimulation silent period.

Introduction Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, we analyzed the effect of salbutamol in five patients with Dok-7 CMS. Methods We studied 5 patients (2 male and 3 female), with a mean age of 27 ± 11.06 years, who harbored c.1124_1127dupTGCC, p.G64R and/or p.S45L mutations in DOK7 gene. Salbutamol was given at a dose of 2 mg three times daily (6 mg/day) to all patients. The response was assessed by QMG score at baseline, 3, 6, 9 and 12 months; ADL-MG score and 6 minute walk test at baseline and after 12 months during follow-up clinic visits. Side effect profile of salbutamol was also evaluated. Results We noted an increasingly positive response as measured by the QMG score after 3 months of salbutamol treatment. Improvement in specific subcomponents of the QMG score such as leg outstretched in 45° supine was most marked. In ADL-MG scores and 6 minute walk test, comparison between baseline and after 12 months revealed a clear beneficial response. Salbutamol was well tolerated in all patients. Conclusions Salbutamol is an effective treatment in Dok-7 CMS. This study provides class IV evidence that salbutamol given at a dose 6 mg/day improves function as measured by the QMG score, ADL-MG score and 6 minute walk test.

Thymoma screening is recommended at the onset of myasthenia gravis (MG) or when patients with MG present with clinical deterioration or a progressive increase of anti-acetylcholine receptor antibody. However, it is unknown if it is necessary to repeat the screening of thymoma at fixed intervals, even in the absence of MG deterioration, when the initial screening is negative. We analyzed the recurrence rate and incidence of new thymoma in a series of patients with well-controlled MG. The sample consisted of 53 patients, aged 17 to 72 years, and the follow-up varied between 75 and 472 months. The chest computerized tomography detected thymus abnormalities in eight patients at the initial screening and no abnormalities in all patients at a second screening after five years. The findings of this study support the classical opinion that screening for thymoma should be recommended only if there is clinical deterioration due to the disease. A investigação de timoma é recomendada em pacientes com miastenia gravis (MG) no início da doença, em caso de haver piora clínica ou aumento dos níveis do anticorpo antirreceptor de acetilcolina. Contudo, não foi estabelecido se é necessário repetir a investigação de timoma em intervalos fixos, na ausência de piora clínica, quando a investigação inicial foi negativa. A taxa de recorrência e a incidência de novo timoma foram analisadas em uma série de pacientes com MG bem controlada. A amostra consiste de 53 pacientes, idade entre 17 e 72 anos, com tempo de acompanhamento variando entre 75 e 472 meses. A primeira tomografia computadorizada de tórax detectou anormalidades no timo em oito pacientes durante a investigação inicial da doença e nenhuma anormalidade no segundo exame, após cinco anos de doença, em todos os pacientes. Os achados desse estudo corroboram a clássica opinião de que a investigação de timoma deveria ser recomendada somente se houver piora clínica da doença.