Wilson Marques Junior

Huntington's disease-like 2 in Brazil--report of 4 patients.

Huntingtons disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntingtons disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent.

Postural Control and Functional Strength in Patients With Type 2 Diabetes Mellitus With and Without Peripheral Neuropathy

OBJECTIVE To assess the influence of diabetic neuropathy (DN) on balance and functional strength in patients with diabetes mellitus type 2 (DM2). DESIGN Cross-sectional study. SETTING Diabetes outpatient unit. PARTICIPANTS Adults (N=62; age range, 40-65y): 32 with DM2 (19 subjects without DN and 13 with DN) and 30 without DM2 (control group). INTERVENTIONS Not applicable. MAIN OUTCOME MEASURES Upright balance, evaluated in 4 situations (fixed platform, unstable platform, with eyes open, with eyes closed), and functional strength, assessed with a five-times-sit-to-stand test, were analyzed using an electromagnetic system, with a sensor placed over C7 to allow maximum trunk displacements in the anterior-posterior and medial-lateral directions. The Berg Balance Scale and the Timed Up & Go test were also used. RESULTS Subjects with DM2 had greater anterior-posterior displacement (P<.05) in the unstable platform with eyes closed condition compared with those without DM2, whereas no difference in medial-lateral displacement was observed between these groups. A difference in time was observed in the five-times-sit-to-stand test (P<.05), with subjects in the control group performing the tasks faster than either group of subjects with DM2. Additionally, subjects in the control group showed a higher score in the Berg Balance Scale and performed the Timed Up & Go test in less time compared with subjects in other groups. CONCLUSIONS Subjects with DM2, with or without DN, showed deficits in postural control and functional strength compared with healthy individuals of the same age group.

Neuropatia autonômica: uma complicação de alto risco no diabetes melito tipo 1

The pathological alteration of the nervous system in diabetic patients is extensive and frequently severe. The prevalence of the diabetic neuropathy reach high levels with the evolution of the diabetes, often showing frequencies higher than 50% in several groups of patients. The neurological lesion in this pathological situation is extensive in the diabetic patient, including widely the peripheral nervous system with its components sensory, motor and autonomic: with typical symptoms and in accordance with the pathogenesis of metabolic origin and/or microvascular disease. The autonomic nervous system is a main regulator of many systems in the human body. Then its lesion can promote significant alterations in the function of the cardiovascular, respiratory, gastrointestinal, urogenital system, that can be related to increased motality. This review anlyses the abnormalities related to lesion of the autonomic nervous system, particularly in type 1 diabetic patients, trying to characterize the risk of morbidity and mortality.

Diagnóstico das neuropatias periféricas aspectos gerais da população em estudo: general characteristics of the population under study

O presente estudo tem por finalidade analisar aspectos gerais de populacao de 209 pacientes com neuropatias perifericas, atendidos no Hospital dias Clinicas de Ribeirao Preto no periodo de marco-1985 a fevereiro-1987. Poucos sao os trabalhos que avaliam pacientes com vista ao estudo dos fatores que contribuem ou nao para o diagnostico daquelas afeccoes. Os tipos de neuropatias encontrados, em ordem de frequencia foram: polineuropatias, mono-neuropatias e multineuropatias. No primeiro grupo se destacaram as formas adquiridas e, no segundo, as lesoes do plexo braquial. A media das idades foi 36,4 anos, com uma variacao de 18 dias a 81 anos. O sexo masculino predominou, entre as polineuropatias, enquanto nas mo-noneuropatias o predominio foi do feminino e nas multineuropatias a proporcao entre os dois sexos foi semelhante. O tempo de seguimento dos pacientes foi menor que 6 meses para 52,6% dos casos e menor que 1 ano para 71,3%. Discutimos o significado e a importância de nossos achados.O presente estudo tem por finalidade analisar aspectos gerais de populacao de 209 pacientes com neuropatias perifericas, atendidos no Hospital das Clinicas de Ribeirao Preto no periodo de marc-1985 a fevereiro-1987. Poucos sao os trabalhos que avaliam pacientes com vista ao estudo dos fatores que contribuem ou nao para o diagnostico daquelas afeccoes. Os tipos de neuropatias encontrados, em ordem de frequencia foram: polineuropatias, mononeuropatias e multineuropatias. No primeiro grupo se destacaram as formas adquiridas e, no segundo, as lesoes do plexo braquial. A media das idades foi 36,4 anos, com uma variacao de 18 dias a 81 anos. O sexo masculino predominou entre as polineuropatias, enquanto nas mononeuropatias o predominio foi do feminino e nas multineuropatias a proporcao entre os dois sexos foi semelhante. O tempo de seguimento dos pacientes foi menor que 6 meses para 52.6% dos casos e menor que 1 ano para 71,3%. Discutimos o significado e a importância de nossos achados (AU)

Chronic inflammatory demyelinating polyneuropathy: quality of life, sociodemographic profile and physical complaints

UNLABELLED Whereas an evaluation of quality of life and possible impacts on the mental state of a patient may help to evaluate the evolution of chronic inflammatory demyelinating polyneuropathy (CIDP), the aim of this study was to study the psychological profile of patients, and evaluate quality of life associated with the disease. METHOD 41 patients were evaluated using a Mini-Mental State Examination (MMSE) and a Short-Form Health Survey (SF-36). RESULTS The mean age of the patients was 50.6 years, 63.4% men. Of the participants, 65.9% had other health problems, 39% reported needing help with activities of daily living, 49% slept less than 8 hours per night, and 34.1% complained of some memory deficit. The average MMSE score was 26. Impairment of functional capacity and pain were the more important altered health states. CONCLUSION CIDP has important social and economic impacts, owing to functional impairments that can lead to professional and personal limitations.

Abdominal wall protrusion following herpes zoster

We present the case of a 62-year-old woman with abdominal segmental paresis consequent to radiculopathy caused by zoster, which was confirmed by electroneuromyography. The paresis resolved completely within three months. Recognition of this complication caused by zoster, which is easily misdiagnosed as abdominal herniation, is important for diagnosing this self-limited condition and avoiding unnecessary procedures.

Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

Cultural adaptation and validation of the Neuropathy - and Foot Ulcer - Specific Quality of Life instrument (NeuroQol) for Brazilian Portuguese - Phase 1

Trata-se de estudo metodologico que teve como objetivos adaptar o Neuropathy - and Foot Ulcer - Specific Quality of Life - NeuroQol para a lingua portuguesa do Brasil, e analisar suas propriedades psicometricas. Participaram 50 pessoas com neuropatia diabetica periferica e ulceras nos pes. Foram analisados os efeitos floor e ceiling, a validade convergente, a discriminante e a confiabilidade. Foi utilizado o coeficiente alfa de Cronbach para testar a confiabilidade e o de correlacao de Pearson para estimar a validade convergente; o teste t-Student foi empregado para avaliar a validade discriminante, na comparacao dos escores do NeuroQol entre os participantes com e sem ulceras. Constataram-se efeitos floor e ceiling em alguns dominios do NeuroQol. A confiabilidade foi satisfatoria. As correlacoes entre os dominios do NeuroQol e SF-36 foram negativas, significativas, de moderada a forte magnitude. Os achados evidenciam que a versao brasileira do NeuroQol e confiavel e valida, e que ele podera ser utilizado como ferramenta util para melhoria da assistencia de enfermagem para as pessoas com DM.This methodological study aimed to adapt the Neuropathy - and Foot Ulcer - Specific Quality of Life instrument - NeuroQol to Brazilian Portuguese and to analyze its psychometric properties. Participants were 50 people with peripheral diabetic neuropathy and foot ulcers. The floor and ceiling effects, the convergent and discriminant validity and the reliability were analyzed. The Cronbachs alpha coefficient was used to test the reliability and the Pearsons correlation coefficient to estimate the convergent validity, the Students t test was used to evaluate the discriminant validity in the comparison of the NeuroQol scores between participants with and without ulcers. Floor and ceiling effects were found in some domains of the NeuroQol. The reliability was satisfactory. The correlations between the domains of the NeuroQol and the SF-36 were negative, significant and of moderate to strong magnitude. The findings show that the Brazilian version of the NeuroQol is reliable and valid and may be employed as a useful tool for improving nursing care for people with DM.

Diagnóstico das neuropatias periféricas alguns fatores relevantes para a realização do diagnóstico: some factors of relevance for diagnosis

The present study was undertaken to evaluate the influence of clinical examination and complementary tests on the diagnosis of peripheral neuropathies. Most of the patients (81.8%) were submitted to laboratory tests, 47.4% were submitted to electromyography, and 22.5% to biopsy. A syndromic diagnosis was made in 99.0% of the patients, topographic diagnosis in 98.6%, and etiological diagnosis in 73.2%. An average of 4.8 tests per patient were requested and 36 of the 93 different tests always gave normal results. The importance of the findings is discussed.

Diagnóstico das neuropatias periféricas diagnósticos sindrômicos, topográficos e etiológicos: syndromic, topographic and etiological diagnoses

Por avaliacao retrospectiva, discriminam-se no presente estudo os diagnosticos sindromicos topograficos e etiologicos aos quais se conseguiu chegar em 209 casos de neuropatias perifericas. A anamnese e o exame clinico-neurologico foram fundamentais para a realizacao dos diagnosticos sindromicos e topograficos. A eletromiografia teve papel relevante, particularmente no que se refere aos diagnosticos topograficos. Os diagnosticos etiologicos dependeram, adicionalmente, de outros exames complementares, dentre os quais se destacam: glicemia e curva glicemica; avaliacao nutricional; avaliacao familiar; biopsias de nervo, pele, faringe e seio maxilar; teste qualitativo para a presenca de porfirinas na urina; acido delta-aminolevulinico e porfobilinogenio urinarios; exames radiologicos. As polineuropatias mais frequentemente encontradas foram as: etilico-carenciais, diabeticas, inflamatorias desmielinizantes agudas e hereditarias. As sindromes do tunel do carpo, as lesoes traumaticas do VII nervo craniano e as neuralgias do trigemeo foram os diagnosticos mais frequentes entre os de mono-neuropatias. A hanseniase, as lesoes traumaticas! do plexo braquial e a sindrome do desfiladeiro toracico predominaram entre as multineuropatias.