-Carpal tunnel syndrome (CTS) has been correlated to body mass index (BMI) increase. The present study was done in a Brazilian population to compare BMI values in the following groups: first, CTS vs. controls subjects, and, second CTS groups of increasing median sensory latency (MSL). According to MSL≥3.7 ms (wristindex finger, 14 cm), median/ulnar sensory latency difference≥0.5 ms (ring finger, 14 cm) or median palm-to-wrist (8 cm) latency≥2.3 ms (all peak-measured), 141 cases (238 hands) had CTS confirmation. All were symptomatic; previous surgery and polyneuropathy were excluded; mean age 50.3; 90.8% female. Controls subjects (n=243; mean age 43.0; 96.7% female) and CTS cases had BMI calculated (kg/m 2 ). Controls subjects had a mean BMI of 25.43±4.80 versus 28.38±4.69 of all CTS cases, a statistically significant difference (p < 0.001). The CTS groups of increasing MSL severity do not show additional increase in BMI (28.44 for incipient, 28.27 for mild, 28.75 for moderate and 29.0 for severe). We conclude that CTS cases have a significant correlation with higher BMI when compared to controls subjects; however, higher BMI do not represent a statistically significant increasing risk for more severe MSL.KEY WORDS: carpal tunnel syndrome, median nerve, compressive neuropathy, body mass index, nerve conduction studies. Índice de massa corporal e síndrome do túnel do carpoRESUMO -Síndrome do túnel do carpo (STC) pode ser estar relacionada ao aumento de índice de massa corporal (IMC). O presente estudo foi realizado em uma população brasileira para comparar valores de IMC entre casos com STC e controles assintomáticos; os casos com STC foram ainda divididos em subgrupos de gravidade progressiva de acordo com a latência distal sensitiva do nervo mediano (LDS-M). Os casos de STC (141, 238 mãos) foram confirmados com LDS-M≥3,7 ms (punho-II dedo, 14 cm), diferença de latência mediano-ulnar≥0,5 ms (punho-IV dedo, 14 cm) ou latência palma-punho do nervo mediano≥2,3 ms (8 cm), todos medidos no pico do potencial. Todos os casos eram sintomáticos; foram excluídos casos com polineuropatia e cirurgia prévia; a média de idade foi 50,3 anos e 90,8% dos casos eram do gênero feminino. Os controles assintomáticos (243) Carpal tunnel syndrome (CTS), a common cause of numbness, paraesthesia and pain in hands due to compression of the median nerve under the transverse carpal ligament, has been correlated to

Myoglobinuria or rhabdomyolysis occurs when myoglobin escapes into the blood and then into the urine after acute muscle necrosis. It can be a serious medical condition leading to renal failure and death. There are many causes including exertion, crush syndromes, ischaemia, metabolic disorders, exogenous toxins and drugs, heat stroke and hereditary disorders such as malignant hyperthermia. We report the case of a 17 year-old boy who developed myoglobinuria, renal failure and death 11 days after ingesting sodium monensin, possibly with the intention of developing muscles. Sodium monensin, the active principle of Rumensin®, is a dietary additive used as a growth promoter for confined cattle. There are no previous reports of human intoxication. Accidental or experimental sodium monensin intoxication in animals produces similar findings to those seen in this case.

-Myasthenia gravis (MG) in childhood is rare comprising 10 to 20 % of all myasthenic patients. We studied 18 patients with MG whose first symptoms started from 1 to 12 years of age, followed at the Department of Neurology of the UNI.ESP-EPM, from January 1983 to August 1997. There were 10 girls and 8 boys (1.2:1). Eleven patients (61%) presented moderate or severe generalized disease and 4 (22%) had at least one myasthenic crisis. EMG with supramaximal repetitive nerve stimulation was diagnostic in 8 (47%) out of 17 patients, and chest CT was normal in 14 patients. Seropositivity to acetylcholine receptor antibodies was found in 81.6% (9 out of 11 tested) and the levels had no relation to clinical severity. Nine out of 16 patients (56%) worsened with pyridostigmine alone and were treated with prednisone. .our out of those nine continued worsening despite steroids and were subjected to thymectomy (all showed thymic lymphoid follicular hyperplasia). Three patients (75%) improved markedly after thymectomy and one (25%) worsened, eventually getting better with intravenous immunoglobulin and oral azathioprine. MG treatment, using all resources available, has to be individualized for each child.KEY WORDS: myasthenia gravis, child. Miastenia gravis na infância: estudo de 18 pacientesRESUMO -A miastenia gravis (MG) em crianças é rara e perfaz 10 a 20% dos pacientes com a doença. Relatamos 18 pacientes cujo início dos sintomas ocorreu até os 12 anos de idade, acompanhados na Disciplina de Neurologia da UNI.ESP-EPM de janeiro de 1983 a agosto de 1997. Eram 10 meninas e 8 meninos (1,2:1,0). Doença generalizada moderada ou grave ocorreu em 11 crianças (61%) e 4 (22%) tiveram pelo menos uma crise miastênica. A eletroneuromiografia com estimulação repetitiva foi diagnóstica em 8 (47%) de 17 pacientes e a tomografia computadorizada do tórax não demonstrou aumento do timo em 14 pacientes. A positividade para o anticorpo anti-receptor da acetilcolina foi de 81,6% nos 11 pacientes testados e seu nível não se correlacionou com a gravidade dos sintomas. Nove dos 16 pacientes (56%) acompanhados apresentou evolução com piora tendo sido utilizada prednisona e 4 destes (25%) pioraram apesar desta terapia e foram submetidos a timectomia. Das quatro pacientes timectomizadas (todas com hiperplasia folicular linfóide do timo), 3 (75%) melhoraram e uma (25%) continuou piorando tendo sido medicada com imunoglobulina endovenosa e azatioprina. O tratamento da MG deve ser individualizado para cada criança para chegar-se o mais próximo de uma atividade de vida diária plena.

Isolated and painless infraspinatus atrophy and weakness are described in two top-level volleyball players. EMG revealed isolated denervation of the infraspinatus muscle. One athlete continued playing and his clinical features have not changed. The other recovered her muscle bulk and strength after stopping playing. These findings were attributed to intense activity of the shoulder joint, without any direct trauma. On clinical grounds, we did not consider these cases as true examples of entrapment neuropathy. Pathogenesis was related to traction of the distal branch of the suprascapular nerve during the act of reception of the ball ("Manchete").

Objectives To present phenotype features of a large cohort of congenital myasthenic syndromes (CMS) and correlate them with their molecular diagnosis. Methods Suspected CMS patients were divided into three groups: group A (limb, bulbar or axial weakness, with or without ocular impairment, and all the following: clinical fatigability, electrophysiology compatible with neuromuscular junction involvement and anticholinesterase agents response), group B (limb, bulbar or axial weakness, with or without ocular impairment, and at least one of additional characteristics noted in group A) and group C (pure ocular syndrome). Individual clinical findings and the clinical groups were compared between the group with a confirmed molecular diagnosis of CMS and the group without molecular diagnosis or with a non‐CMS molecular diagnosis. Results Seventy‐nine patients (68 families) were included in the cohort: 48 in group A, 23 in group B and 8 in group C. Fifty‐one were considered confirmed CMS (30 CHRNE, 5 RAPSN, 4 COL13A1, 3 DOK7, 3 COLQ, 2 GFPT1, 1 CHAT, 1 SCN4A, 1 GMPPB, 1 CHRNA1), 7 probable CMS, 5 non‐CMS and 16 unsolved. The chance of a confirmed molecular diagnosis of CMS was significantly higher for group A and lower for group C. Some individual clinical features, alterations on biopsy and electrophysiology enhanced specificity for CMS. Muscle imaging showed at least mild alterations in the majority of confirmed cases, with preferential involvement of soleus, especially in CHRNE CMS. Conclusions Stricter clinical criteria increase the chance of confirming a CMS diagnosis, but may lose sensitivity, especially for some specific genes.

The terminal complement inhibitor eculizumab was shown to improve myasthenia gravis-related symptoms in the 26-week, phase 3, randomized, double-blind, placebo-controlled REGAIN study (NCT01997229). In this 52week sub-analysis of the open-label extension of REGAIN (NCT02301624), eculizumab's efficacy and safety were assessed in 11 Japanese and 88 Caucasian patients with anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis. For patients who had received placebo during REGAIN, treatment with openlabel eculizumab resulted in generally similar outcomes in the Japanese and Caucasian populations. Rapid improvements were maintained for 52 weeks, assessed by change in score from open-label extension baseline to week 52 (mean [standard error]) using the following scales (in Japanese and Caucasian patients, respectively): Myasthenia Gravis Activities of Daily Living (−2.4 [1.34] and − 3.3 [0.65]); Quantitative Myasthenia Gravis (−2.9 [1.98] and − 4.3 [0.79]); Myasthenia Gravis Composite (−4.5 [2.63] and − 4.9 [1.19]); and Myasthenia Gravis Quality of Life 15-item questionnaire (−8.6 [5.68] and − 6.5 [1.93]). Overall, the safety of eculizumab was consistent with its known safety profile. In this interim sub-analysis, the efficacy and safety of eculizumab in Japanese and Caucasian patients were generally similar, and consistent with the overall REGAIN population.

Contribuição dos autores:TMC concepção e planejamento do projeto de pesquisa, coleta, tabulação, delineamento do estudo e redação do manuscrito. CTE concepção e planejamento do projeto de pesquisa, coleta, tabulação, delineamento do estudo e redação do manuscrito. DSM coleta, tabulação e redação do manuscrito. MPAM obtenção os dados do estudo e redação do manuscrito. LC tabulação, análise estatística e redação do manuscrito. MAB orientação do projeto, delineamento do estudo e elaboração do manuscrito. ResumoIntrodução: A Esclerose Lateral Amiotrófica (ELA), doença caracterizada por deterioração de neurônios motores causa paralisia progressiva de músculos esqueléticos, comprometendo a motricidade dos membros, da deglutição, da respiração e da fala. O comprometimento da fala tem papel fundamental na qualidade de vida do paciente bem como na de seu cuidador. A Comunicação Alternativa Ampliada (CAA) surge como uma oportunidade para amenizar as limitações de comunicação impostas pela doença. Objetivo: Avaliar a eficácia da Comunicação Alternativa Ampliada em pacientes com Esclerose Lateral Amiotrófica. Casuística e Métodos: Estudo quantitativo, descritivo e transversal com 13 pacientes, realizado em São José do Rio Preto -SP, Brasil, nos anos de 2015 e 2016. Instrumentos: questionários sócio-demográfico elaborado pelos pesquisadores; questionário de avaliação da ELA (Amyotrophic Lateral Sclerosis Assessment Questionnaire; ALSAQ-40); questionário de qualidade de vida em voz (QVV); e questionário de eficácia dos meios de comunicação alternativa (Vox4All ou HeadMouse). O questionário sóciodemográfico, o ALSAQ-40 e o questionário de qualidade de vida em voz foram aplicados antes da intervenção. A intervenção com a Comunicação Alternativa Ampliada foi aplicada durante seis atendimentos individuais com duração de 50 minutos cada, uma a duas vezes por semana com a ajuda do profissional da saúde. Após o término das sessões, os pacientes responderam ao questionário sobre a eficácia dos meios de comunicação alternativa. A associação entre as variáveis foi medida utilizando o teste exato de Fisher. Resultados: A idade dos pacientes foi de 60,07±11,17 anos (média ± desvio padrão), e 76,92% apresentava cuidador familiar. Cem por cento dos pacientes apresentavam dificuldades na comunicação. Após a intervenção com a Comunicação Alternativa Ampliada os pacientes relataram melhora na comunicação (p<0,05) e consideraram esses métodos eficazes para o uso diário. Conclusão: A Comunicação Alternativa Ampliada pode ser considerada uma intervenção facilitadora na interação social e na qualidade de vida de pacientes com Esclerose Lateral Amiotrófica. AbstractIntroduction: Amyotrophic Lateral Sclerosis (ALS), a disease characterized by deterioration of upper and lower motor neurons causes progressive paralysis in all skeletal muscles. It compromises limb motility, swallowing, breathing, and speech. Speech impairment plays a key role in both the patient and the caregiver's quality of life. Augmentative and Alternative Communication (AAC) emerg...

Objective To assess whether eculizumab, a terminal complement inhibitor, improves patient‐ and physician‐reported outcomes (evaluated using the myasthenia gravis activities of daily living profile and the quantitative myasthenia gravis scale, respectively) in patients with refractory anti‐acetylcholine receptor antibody‐positive generalized myasthenia gravis across four domains, representing ocular, bulbar, respiratory, and limb/gross motor muscle groups. Methods Patients with refractory anti‐acetylcholine receptor antibody‐positive generalized myasthenia gravis were randomized 1:1 to receive either placebo or eculizumab during the REGAIN study (NCT01997229). Patients who completed REGAIN were eligible to continue into the open‐label extension trial (NCT02301624) for up to 4 years. The four domain scores of each of the myasthenia gravis activities of daily living profile and the quantitative myasthenia gravis scale recorded throughout REGAIN and through 130 weeks of the open‐label extension were analyzed. Results Of the 125 patients who participated in REGAIN, 117 enrolled in the open‐label extension; 61 had received placebo and 56 had received eculizumab during REGAIN. Patients experienced rapid improvements in total scores and all four domain scores of both the myasthenia gravis activities of daily living profile and the quantitative myasthenia gravis scale with eculizumab treatment. These improvements were sustained through 130 weeks of the open‐label extension. Interpretation Eculizumab treatment elicits rapid and sustained improvements in muscle strength across ocular, bulbar, respiratory, and limb/gross motor muscle groups and in associated daily activities in patients with refractory anti‐acetylcholine receptor antibody‐positive generalized myasthenia gravis.