Prevalence of Multiple Sclerosis in the City of Volta Redonda - Rio De Janeiro, Brazil Using the Capture-Recapture Method.

BACKGROUND: Multiple sclerosis (MS) prevalence in Latin America was estimated in some regions and it was found to range from 0.75 to 30/100,000. The reasons for variation in rates of prevalence around the world still are not clear, but there are environmental and genetic explanations to this phenomenon. This study aimed at estimating the MS prevalence in Volta Redonda, Brazil. METHOD: Three sources of cases ascertainment were used and the method of capture-recapture was applied for assessing the corrected prevalence in the city of Volta Redonda in November 2012. The capture-recapture method uses data from incomplete lists and allows calculating the number of unregistered cases. Data were analyzed using a log-linear model. RESULTS: A total of 40 MS cases was found by withdrawing overlaps of sources and it was estimated that a total number of 40 cases (95% CI 13.5-118.8) were not detected by the sources. The corrected prevalence of MS was, then, 30.7/100,000. CONCLUSION: Our study was the first in Brazil to use the capture-recapture method to assess the prevalence of MS, demonstrating the highest prevalence rate so far. It is necessary to perform other similar studies and in other regions of the country using the same method for a better evaluation of the true prevalence of MS our country.

Pediatric Multiple Sclerosis in Rio de Janeiro: Secondary Progression and Disability.

BACKGROUND: The onset of multiple sclerosis (MS) in 2% to 10% of cases occurs prior to 18 years of age. Early age onset appears to affect some aspects of multiple sclerosis. The objective of our study was to evaluate the prevalence, the clinical and demographic characteristics, and the disease progression in a sample of pediatric multiple sclerosis patients from a mixed population. METHODS: In a cross-sectional design, the prevalence, demographic characteristics, and initial clinical forms were compared between 75 cases of pediatric multiple sclerosis (PMS) and 689 adults with MS. Sixty-five PMS patients with complete data and 260 randomly selected adults with relapsing-remitting multiple sclerosis were compared. A Kaplan-Meier analysis was conducted to compare the age at and time to Expanded Disability Status Scale (EDSS) 3, EDSS 6, and secondary progressive multiple sclerosis (SPMS). RESULTS: A total of 9.8% of all MS cases with available data were PMS. All cases of PMS consisted of relapsing-remitting multiple sclerosis. Brazilians of African descent comprised 34.6% of the sample, and the female-to-male ratio was 2.4:1. At the first attack, motor alterations were more common. Benign forms were more common in PMS (84.6% versus 62.2%). Fewer PMS patients reached EDSS 6 (11.6% versus 25.4%) (P = 0.0017) and SPMS (11.1% versus 28.1%) (P = 0.005). PMS patients took longer to reach EDSS 3 (P = 0.017), EDSS 6 (P = 0.001), and SPMS (P < 0.001); however, they reached EDSS 3 earlier (P < 0.001). CONCLUSIONS: In this mixed cohort, the prevalence of PMS was similar to that reported in other studies, and the pediatric patients had a more benign course than adults with MS.

A brief neuropsychological screening test battery for cognitive dysfunction in Brazilian multiple sclerosis patients.

PRIMARY OBJECTIVE: The cognitive profile of patients with Multiple Sclerosis in the Brazilian population is relatively unknown and no cognitive screening instruments have been developed for this population. The purpose of the present study was to develop a neuropsychological screening instrument battery to identify cognitive impairment in epidemiological research protocols in this country. METHODS AND PROCEDURES: Fifty-four patients with Relapsing-Remitting Multiple Sclerosis (RRMS) and 54 controls matched by sex, age and educational level were evaluated through a long and comprehensive neuropsychological test battery. MAIN OUTCOMES AND RESULTS: In comparison to the control group, 51.8% of the patients with RRMS presented some form of cognitive impairment. Three neuropsychological tests - Verbal Fluency, Rey Auditory Verbal Learning and Enhanced Cued Recall - presented an 80.6% sensitivity and 97.2% specificity in differentiating RRMS patients with cognitive deficits from paired control subjects. CONCLUSIONS: These three tests constitute a Brief Battery that represents a first Brazilian MS cognitive screening instrument. However, further validation study is necessary to achieve better normative scores in a larger sample and to establish feasibility of this battery.

Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.

OBJECTIVE: In this study, we review the institution's experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). METHODS: Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3-84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors. RESULTS: Mean tumor sizes were 15.8 ± 8.2 cm and 10.8 ± 6.3 cm for patients with and without NF1, respectively. Combined two- and five-year overall survival was 48.5% and 29%. Multivariate analysis confirmed the association of tumor size greater than 10 cm (hazard ratio (HR) 2.99; 95% confidence interval (CI) 1.14-7.85; p = 0.0258) and presence of NF1 (HR 3.41; 95%CI 1.88-6.19; p < 0.001) with a decreased overall survival. CONCLUSION: Tumor size and NF1 status were the most important predictors of overall survival in our population.

Polineuropatia desmielinizante como manifestação inicial isolada de hanseníase: relato de caso / Demyelinating polyneuropathy as an isolated initial manifestation of leprosy: case report

RESUMO: Modelo do Estudo: Relato de caso. Importância do problema: No mundo, mais de três milhões de pessoas estão vivendo com deficiência física devido à hanseníase. O Brasil é o segundo país com o maior número de casos novos registrados.A magnitude e o alto risco de incapacidade mantêm a doença como problema de saúde pública. O diagnóstico de hanseníase em geral é simples. Porém, quadros com ausência de lesões cutâneas características, somente com alterações neurais, representam um desafio para o diagnóstico diferencial com outras doenças neurológicas. Comentários: Relatamos o caso de um paciente encaminhado ao serviço de neurologia com história clínica e eletroneuromiografia compatíveis com polineuropatia desmielinizante, sem qualquer lesão cutânea ao exame de admissão. O raciocínio clínico inicial foi direcionado para o diagnóstico das polineuropatias desmielinizantes inflamatórias adquiridas como Polineuropatia Desmielinizante Inflamatória Crônica (CIDP) e suas variantes. No entanto, após anamnese e exame físico detalhados, chamou a atenção a ausência do componente atáxico e a presença predominante de alterações sensitivas de fibra fina, espessamento de nervo e importante fator epidemiológico para hanseníase, motivando a suspeita e a in-vestigação desta enfermidade por meio da biópsia de nervo que foi sugestiva de hanseníase. Após três meses, em novo exame do paciente para biopsiar áreas de anestesia para reforçar o diagnóstico, observou-se o surgimento de extensas lesões levemente hipocrômicas no tronco e membros inferiores, cuja biópsia definiu o diagnóstico de hanseníase. (AU)

ABSTRACT: Study: Case report. Importance: Worldwide over three million people are living with disabilities due to leprosy. Brazil is the second country with the highest number of new cases registered. The magnitude and high risk of disability make the disease a public health problem. The diagnosis of leprosy can be simple. However, in the absence of skin lesions and with many possibilities of neurological impairment, diagnosis can become a challenge. Comments: We report the case of a patient referred to the neurology service with a clinical history and electrophysiological tests compatible with demyelinating polyneuropathy, without any skin lesion at admission examination. The initial clinical research was directed to the diagnosis of acquired inflammatory demyelinating polyneuropathies such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)and its variants. However, after anamnesis and detailed physical examination, the absence of the ataxic component and the predominant presence of sensory alterations of fine fiber, nerve thickening and important epidemiological factor for leprosy,led to the suspicion and investigation of this disease by nerve biopsy that was suggestive of leprosy. After three months, in a new patient examination "to perform a biopsy in areas of anesthesia" to reinforce the diagnosis, there was the appearance of extensive slightly hypochromic lesions in the trunk and lower limbs, whose biopsy defined the diagnosis of leprosy.(AU)

Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1 / Tumor maligno da bainha de nervo periférico com e sem Neurofibromatose tipo 1

ABSTRACT Objective In this study, we review the institution’s experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). Methods Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3–84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors. Results Mean tumor sizes were 15.8 ± 8.2 cm and 10.8 ± 6.3 cm for patients with and without NF1, respectively. Combined two- and five-year overall survival was 48.5% and 29%. Multivariate analysis confirmed the association of tumor size greater than 10 cm (hazard ratio (HR) 2.99; 95% confidence interval (CI) 1.14–7.85; p = 0.0258) and presence of NF1 (HR 3.41; 95%CI 1.88–6.19; p < 0.001) with a decreased overall survival. Conclusion Tumor size and NF1 status were the most important predictors of overall survival in our population.

RESUMO Objetivo Relatamos a experiência institucional no tratamento de tumores malignos da bainha de nervo periférico (TMBNP) e comparamos o prognóstico entre pacientes com e sem neurofibromatose tipo 1 (NF1). Métodos Foram incluídos neste estudo 92 pacientes num período de 20 anos. Foi realizada uma análise retrospectiva dos prontuários, das características do tumor e do tratamento. A idade mediana era 43,5 anos (variação 3–84 anos) e 55,4% dos pacientes eram mulheres; 41 pacientes (44,6%) tinham tumores associados à NF1. Resultados O diâmetro médio dos tumores era 15,8 ± 8,2cm e 10,8 ± 6,3cm para pacientes com e sem NF1, respectivamente. A sobrevida combinada em 2 e 5 anos foi de 48,5% e 29%. A análise multivariada confirmou que o tamanho do tumor acima de 10cm (hazard ratio (HR) 2.99; 95% intervalo de confiança (IC) 1.14–7.85; p = 0.0258) e a presença de NF1 (HR 3.41; 95%IC 1.88–6.19; p < 0.001) estão associados a uma pior sobrevida. Conclusões O tamanho do tumor e a associação com NF1 foram os preditores mais importantes de sobrevida na nossa população.

Epidemiologia da esclerose lateral amiotrófica - Europa/América do Norte/América do Sul/Ásia: discrepâncias e similaridades: revisão sistemática da literatura / Epidemiology of amyotrophic lateral sclerosis - Europe/North America/South America/Asia: discrepancies and similarities: systematic review of the literature

A esclerose lateral amiotrófica é uma doença neurodegenerativa de causa desconhecida, que afeta principalmente os neurônios motores da medula espinhal, tronco cerebral e do encéfalo.No Brasil, há poucos dados disponíveis epidemiológicos da ELA, principalmente nos aspectos de distribuição por gênero, tempo do início da sintomatologia, até o diagnóstico. O presente estudo tem o objetivo de apresentar uma revisão sistemática da literatura indexada sobre incidência, prevalência, forma de apresentação e acometimento inicial da doença, taxa de mortalidade, epidemiologia da ELA no Brasil e em outros países, definida pelos critérios de EL Escorial (WFN, 1998). Foram selecionados 10 artigos, publicados na língua inglesa, de 1982 a 2008, com estudo retrospectivo, observacional, através de busca nas bases de dados por índice, título, assunto, usando combinações de palavras-chave inglesas, visando estudos com pacientes avaliados em centros de referência. Nos trabalhos devidamente tabulados foi aplicado o critério Oxman & Guyatt (1991) para qualificar, sem, entretanto ter intenção de exclusão. Os estudos mostram discrepâncias nas variações em relação à taxa de incidência nas várias regiões do mundo, maior na Ilha de Guam (3,9/100.000 habitantes) e menor na China (0,3/100.000 habitantes). A média de idade de acometimento é menor no Brasil, com 52 anos, mostrando discrepância em relação aos outros países que variam de 59 a 65 anos.A similaridade refere-se ao sexo, com maior prevalência nos homens do que nas mulheres e sintoma inicial com fraqueza muscular assimétrica.

Amyotrophic lateral sclerosis is a neurodegenerative disease of unknown cause, which mainly affects the motor neurons of the spinal cord, brain stem and of the brain. In Brazil, there is few available epidemiological data on ALS, mainly about gender distribution, time of beginning of the symptoms, as well as diagnosis. The present study has as objective to present a systematic review of the indexed literature on incidence, prevalence, form of presentation and initial symptoms of the disease, rate of mortality, epidemiology of ALS in Brazil and other countries, as defined with the EL Escorial criteria (WFN, 1998). Ten articles were selected, published in the English language between 1982 and 2008, with retrospective, observational study, through search in databases for index, heading, subject, using combinations of English keywords, aiming at studies with patients evaluated in reference centers. In the tabulated works, the Oxman & Guyatt (1991) criterion was applied to characterize, but without exclusion intention. The studies show discrepancies in the variations related to the rates of incidence in various regions of the world, mostly in the Island of Guam (3.9/100.000 hab) and less in China (0.3/100.000 hab). The average age of at the beginning is smaller in Brazil, with 52 years, displaying discrepancy in relation to the other countries where it varied from 59 to the 65 years. The similarity is related to the gender, with greater prevalence in the men than in the women, and in relation to initial symptom, with asymmetrical muscular weakness.