Acary Souza Bulle Oliveira

Anti-sulfatide antibodies in neurological disease: binding to rat dorsal root ganglia neurons

Increased titers of anti-sulfatide antibodies were detected by ELISA in 5 of 200 patients and control subjects. All 5 patients had sensory impairment; 4 had neuropathy, and one had multiple sclerosis. Of the patients with neuropathy, 2 had a clinical syndrome of small fiber sensory neuropathy with normal electrophysiological or nerve biopsy studies, 1 had a sensorimotor axonal neuropathy associated with IgM monoclonal gammopathy, and 1 had sensorimotor neuropathy with multifocal motor conduction block and anti-GM1 antibodies. The anti-sulfatide antibodies bound to the surface of unfixed rat dorsal root ganglia neurons and human neuroblastoma cells, and to fixed sections of central and peripheral myelin. No binding was detected following intraneural injection into rat sciatic nerves. Pre-absorption with sulfatide but not with galactocerebroside eliminated the tissue binding activity. These findings indicate that increased titers of anti-sulfatide antibodies are found in patients with sensory impairment but are not restricted to a particular neurological syndrome or type of neuropathy. The significance of anti-sulfatide antibodies is uncertain although sulfatide on dorsal root ganglia neurons may be a target antigen.

17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

AbstractThe most frequentntype of Charcot–Marie–Toothn(CMT) neuropathy is that associatednwith the 17p11.2–p12 chromosomenduplication, whose characteristicsnhave been well described innEuropean and North Americannpopulations. In this study, we analyzedna Brazilian population exhibitingnthe mutation, found in 57npatients from 42 families (79%) ofna cohort of 53 families with demyelinatingnCMT. Almost 20% ofnthe duplicated cases were sporadic.nIn 77% of the duplicated familiesnthe mutation event occurred in thenhot spot area of the CMT1A–Repnregion. Forty–five percent of patientsnwere females, 84% were Caucasiansnand 13% of African descent.nDistal limb weakness was thenmost frequent abnormality, appearingnin 84% of patients, althoughnuncommon manifestationsnsuch as severe proximal weakness,nfloppy baby syndrome, diaphragmaticnweakness and severe scoliosisnwere also observed. One patientnwas wheelchair–bound, and threensuffered severe hand weakness.nSensory abnormalities were detectednin 84% of the cases, but 80%nwere unaware of this impairment.nTwelve patients complained of positivensensory manifestations suchnas pain and paresthesias. Progressionnwas reported by 40%. Motornconduction velocities in the uppernlimbs were always less than 35 m/s,nand less than 30.4 m/s in the peronealnnerve. The findings of thisnstudy expand the clinical spectrumnof the disease.

Isolated and painless infraspinatus atrophy in top-level volleyball players: report of two cases and review of the literature

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).

Sleep disorders frequency in post-polio syndrome patients caused by periodic limb movements

Post-polio syndrome (PPS) in individuals with polio longer than 15 years is characterized by weakness and/or muscle fatigue, deficit of deglutition and breath and periodic limb movements (PLM) during sleep. We undertook a review of 99 patients with PPS, and assessed the frequency of PLM through polysomnographic recordings at our sleep disorders unit. The total number of PLM, total time of sleep (TTS), efficiency of sleep (EfS), awaking index (AI) and apnea-hypopnea index (AHI) were analyzed. Sixteen patients presented PLM in excess of 5 for the entire night. When comparing these with the group without PLM, a correlation was found (p=0.001). Significant difference was found for the correlation of the parameters: IAH, ID, TTS and EfS when compared the two groups. There is a close relationship between PPS and PLM.

Paralisia periódica: estudo anátomo-patológico do músculo esquelético de 14 pacientes

Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease. We analysed 17 muscle biopsies from 14 patients with periodic paralysis (14 hypokalemic, 2 hyperkalemic). All of them showed at least one histological abnormality. Fourteen specimens showed vacuoles that were peripheral, single, frequent and preferentially found in type I fibers. Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease. Ten biopsies showed tubular aggregates, specially on the patients with frequent crises or long term disease. A second biopsy was done in three patients and in two we observed a worsening of the histopathologic picture. One patient manifested interictal weakness with evident myopathic changes on the muscle biopsy. Nonspecific changes were found in variable degrees in 15 biopsies. Our study shows that vacuoles and tubular aggregates are frequent changes in periodic paralysis and therefore helpful for the diagnosis. Important myopathic findings in the muscle biopsy suggest a permanent myopathy which probably develops after severe crises or long term disease.Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease. We analysed 17 muscle biopsies from 14 patients with periodic paralysis (14 hypokalemic, 2 hyperkalemic). All of them showed at least one histological abnormality. Fourteen specimens showed vacuoles that were peripheral, single, frequent and preferentially found in type I fibers. Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease. Ten biopsies showed tubular aggregates, specially on the patients with frequent crises or long term disease. A second biopsy was done in three patients and in two we observed a worsening of the histopathologic picture. One patient manifested interictal weakness with evident myopathic changes on the muscle biopsy. Nonspecific changes were found in variable degrees in 15 biopsies. Our study shows that vacuoles and tubular aggregates are frequent changes in periodic paralysis and therefore helpful for the diagnosis. Important myopathic findings in the muscle biopsy suggest a permanent myopathy which probably develops after severe crises or long term disease.

Paralisia periódica: análise clínica de 20 pacientes

Este estudo consiste da avaliacao de 20 pacientes com diagnostico de paralisia periodica (PP) sendo descritos aspectos epidemiologicos, manifestacoes clinicas, exames subsidiarios, tratamento e evolucao. Dezesseis pacientes tinham a forma hipocalemica (5 familiares, 5 esporadicos, 5 tireotoxicas e 1 secundaria). Nao houve casos de PP normocalemica. Houve predominio do sexo masculino (14 pacientes). Todos os 5 pacientes com forma tireotoxica eram do sexo masculino e nenhum deles tinha origem oriental. Somente 4 pacientes tinham a forma hipercalemica (3 familiares, 1 esporadico). Nas duas formas os ataques ocorreram preferencialmente no periodo da manha sendo o repouso apos exercicio o fator desencadeante mais importante. No entanto observamos que 75% dos pacientes com a forma hipercalemica referiram crises de curta duracao (<12 horas). Crises mais prolongadas foram referidas por 43% dos pacientes com a forma hipocalemica. A maioria das crises caracterizava-se por fraqueza generalizada, predominando nos membros inferiores e sendo sua frequencia variavel. A creatinoquinase foi avaliada em 10 pacientes e 8 tinham niveis elevados que variaram de 1,1 a 5 vezes o valor normal. A eletroneuromiografia foi realizada em 6, mas o fenomeno miotonico foi a unica alteracao encontrada em 2 pacientes. Inibidores da anidrase carbonica, principalmente a acetazolamida, usados no tratamento profilatico em 9 pacientes mostraram uma boa resposta em todos. Embora a PP seja algumas vezes considerada doenca benigna, encontramos sintomas respiratorios em 5 pacientes, miopatia permanente em 1, alteracoes eletrocardiograficas durante crise em 4; obito durante paralisia ocorreu em 2 pacientes. Assim, o correto diagnostico e o tratamento imediato sao cruciais. Este estudo mostra que o hipertireoidismo e importante causa de PP em nosso meio, mesmo em pacientes nao orientais. Assim, a investigacao endocrina e mandatoria ja que as crises de paralisia so desaparecem apos a normalizacao dos niveis hormonais.

Expression of a cell death marker (clusterin) in muscle target fibers

We report, for the first time, the expression of immunoreactivity to clusterin in skeletal muscle. Clusterin, a protein probably related to the process of programmed cell death (apoptosis), was specifically very highly expressed in target fibers. All target fibers found in 50 muscle biopsy samples from a variety of neuromuscular disorders expressed a high concentration of clusterin in the middle of the targets. Clusterin was not expressed in any targetoid fibers or cores. Acute denervation, where targets are mostly seen, may be the beginning of apoptosis. Hence our findings support the concept that targets are harbingers of acute denervation.

Motor neuron disease and acquired axonal neuropathy association in HIV infection: case report and update.

BACKGROUNDnA possible viral etiology has been documented in the genesis of motor neuron disorders and acquired peripheral neuropathies, mainly due to the vulnerability of peripheral nerves and the anterior horn to certain viruses. In recent years, several reports show association of HIV infection with Amyotrophic Lateral Sclerosis - Syndrome, Motor Neuron Diseases and peripheral neuropathies.nnnOBJECTIVEnTo report a case of an association between Motor Neuron Disease and Acquired Axonal neuropathy in HIV infection, and describe the findings of neurological examination, cerebrospinal fluid, neuroimaging and electrophysiology.nnnMETHODSnThe patient underwent neurological examination. General medical examinations were performed, including, specific neuromuscular tests, analysis of cerebrospinal fluid, muscle biopsy and imaging studies.nnnRESULTS AND DISCUSSIONnThe initial clinical presentation of our case was marked by cramps and fasciculations with posterior distal paresis and atrophy in the left arm. We found electromyography tracings with deficits in the anterior horn of the spinal cord and peripheral nerves. Dysphagia and release of primitive reflexes were also identified. At the same time, the patient was informed to be HIV positive with high viral load. He received antiretroviral therapy, with load control but with no clinical remission.nnnCONCLUSIONnMotor Neuron disorders and peripheral neuropathy may occur in association with HIV infection. However, a causal relationship remains uncertain. It is noteworthy that the antiretroviral regimen may be implicated in some cases.

Expression of HLA-DR in pheripheral nerve of amyotrophic lateral sclerosis

To investigate the possibility of local antigen presentation within the peripheral nerve in amyotrophic lateral sclerosis (ALS), cryostat sections of 83 peripheral nerve biopsies were stained for the demonstration of HLA-DR using a monoclonal antibody. Forty samples showed increased expression of HLA-DR in endoneurium. The phenotypic characteristics of the HLA-DR positive cells are chiefly Schwann cells, using S-100 protein as a marker. We did not detect any co-expression between HLA-DR and NF (axons) and HLA-DR and myelin marker. We also detected co-expression between HLA-DR and NGFr in a majority of HLA-DR positive cells. Inflammatory cells were infrequent, being detected only in 11 cases, predominantly around epineurial blood vessels. Motor and sensory nerve biopsies performed simultaneously showed higher expression of HLA-DR in motor nerves in 2 out of 4 patients. The significance of these findings is not clear. The presence of endoneurial cells expressing HLA-DR suggests that an autoimmune mechanism may be involved in ALS having Schwann as the main target.

Effects of Dăoyĭn Qìgōng in postpolio syndrome patients with cold intolerance

UNLABELLEDnPostpolio syndrome (PPS) is characterized by progressive muscle weakness due to former infection with poliomyelitis and can be associated with other symptoms such as cold intolerance (CI). Dăoyĭn Qìgōng (DQ) is a technique in Traditional Chinese Medicine that impacts the circulation of energy and blood.nnnOBJECTIVEnIt was to verify the effects of DQ in PPS patients complaining of cold intolerance.nnnMETHODSnTen PPS patients were assessed using the visual analogue scale (VAS) adapted for CI before and after intervention with DQ; patients practiced it in a sitting position for 40 minutes, 3 times per week over 3 consecutive months. Patients were reassessed three months after ceasing DQ.nnnRESULTSnThere was a statistically significant difference in local and systemic VAS-Cold both at the end of DQ training and three months past the end of this.nnnCONCLUSIONnThe DQ technique ameliorated CI complaints in patients with PPS.