Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives.

OBJECTIVES: The understanding of complex multifactorial diseases requires the availability of a variety of data for a large-number of affected individuals. In this data note here we provide whole exome sequencing data from a set of non-familiar multiple-sclerosis (MS) patients as well as their unaffected first-degree relatives. This data might help the identification of genomic alterations, including single nucleotide polymorphisms, de novo variations and structural genomic variations, such as copy-number alterations that may impact this disease. DATA DESCRIPTION: This dataset comprises the full exome of 28 Brazilian subjects grouped in eight distinct families, consisting of four complete trios (mother-patient-father) plus another four complete trios with one added unaffected sibling. In total, we present the full exome data of eight patients diagnosed with recurrent remittent multiple sclerosis. Diagnoses were made by experienced neurologists and all enrolled patients had at least 5 years of follow up and specific MS treatment. Exomes were sequenced from leukocyte-derived DNA, after the capture of exons using biotinylated probes, in the Ion Proton platform. For each exome we generated an average of 66.1 million good quality mapped reads with an average length of ~ 160nt. On average, for 90% of the exome a vertical coverage above 20× was reached.

Validation and cross-cultural adaptation of sexual dysfunction modified scale in multiple sclerosis for Brazilian population.

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS). These patients suffer from various comorbidities, including sexual dysfunction (SD). The lesions of MS may affect regions of the CNS along the pathway of sexual response. The Multiple Sclerosis Intimacy and Sexuality Questionnaire-19 (MSISQ-19) is a scale that assesses sexual dysfunction. Adapt and validate the MSISQ-19 to Brazilian patients with MS. 204 individuals were evaluated, 134 patients with MS and 70 healthy persons for the control group. It was determined reproducibility, validity, internal consistency and sensitivity of the MSISQ-19-BR. Among patients with MS, 54.3% of male and 71.7% of female presented some kind of SD. In the control group the results were 12.5% and 19.5%, respectively. The MSISQ-19-BR is reproducible, reliable and valid for the Brazilian population and may be used as a tool for assessing the impact of sexual dysfunction in patients with MS.

Validation survey of the impact of urinary incontinence (IIQ-7) and inventory of distress urogenital (UDI-6) - the short scales - in patients with multiple sclerosis.

Cross-cultural adaptation and validation of the Impact Questionnaire of Urinary Incontinence (IIQ-7) and Urogenital Distress Inventory (UDI-6) - short scale - in the Brazilian population with multiple sclerosis. The IIQ-7 and UDI-6 were translated into Portuguese, called IIQ-7-BR and UDI-6-BR. The questionnaires were administered in 211 individuals selected randomly. Of these, 140 had MS according to McDonald criteria and 71 were included in the control group. In both questionnaires, the Cronbach's alpha coefficient was above 0.7. The IIQ-7-BR showed 94.31% concordance between the evaluated studies and UDI-6-BR, 93.33%. Thus, the instruments of this study were presented according to the standards proposed by the Instrument Review Criteria, reliability, validity and sensitivity, maintaining the original scales characteristics.

Validation and cross-cultural adaptation of sexual dysfunction modified scale in multiple sclerosis for Brazilian population / Validação e adaptação transcultural da escala modificada de disfunção sexual em esclerose múltipla na população brasileira

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS). These patients suffer from various comorbidities, including sexual dysfunction (SD). The lesions of MS may affect regions of the CNS along the pathway of sexual response. The Multiple Sclerosis Intimacy and Sexuality Questionnaire-19 (MSISQ-19) is a scale that assesses sexual dysfunction. Adapt and validate the MSISQ-19 to Brazilian patients with MS. 204 individuals were evaluated, 134 patients with MS and 70 healthy persons for the control group. It was determined reproducibility, validity, internal consistency and sensitivity of the MSISQ-19-BR. Among patients with MS, 54.3% of male and 71.7% of female presented some kind of SD. In the control group the results were 12.5% and 19.5%, respectively. The MSISQ-19-BR is reproducible, reliable and valid for the Brazilian population and may be used as a tool for assessing the impact of sexual dysfunction in patients with MS.

A esclerose múltipla (EM) é uma doença crônica inflamatória do sistema nervoso central (SNC). Esses pacientes sofrem de várias comorbidades, incluindo a disfunção sexual. As lesões da EM podem afetar varias regiões do SNC inclusive a via de resposta sexual. O Multiple Sclerosis Intimacy and Sexuality Questionnaire-19 (MSISQ-19) é uma escala de avaliação da disfunção sexual. Adaptar e validar o MSISQ-19 para os pacientes brasileiros com EM. 204 indivíduos foram avaliados, 134 pacientes com EM e 70 controles saudáveis. Foi determinado à reprodutibilidade, validade, consistência interna e a sensibilidade do MSISQ-19BR. Entre os pacientes com EM, 54,3% dos homens e 71,7% das mulheres apresentam algum tipo de DS. No grupo controle os resultados foram 12,5% e 19,5%, respectivamente. O MSISQ-19BR foi reprodutível, confiável e validade para a população brasileira e pode ser usado como uma ferramenta de avaliação do impacto da disfunção sexual nos pacientes com EM.

Validation survey of the impact of urinary incontinence (IIQ-7) and inventory of distress urogenital (UDI-6) – the short scales – in patients with multiple sclerosis / Validação da escala curta do questionário de impacto da incontinência urinária (IIQ-7) e do inventário de angústia urogenital (UDI-6) em pacientes com esclerose múltipla

Cross-cultural adaptation and validation of the Impact Questionnaire of Urinary Incontinence (IIQ-7) and Urogenital Distress Inventory (UDI-6) - short scale - in the Brazilian population with multiple sclerosis. The IIQ-7 and UDI-6 were translated into Portuguese, called IIQ-7-BR and UDI-6-BR. The questionnaires were administered in 211 individuals selected randomly. Of these, 140 had MS according to McDonald criteria and 71 were included in the control group. In both questionnaires, the Cronbach’s alpha coefficient was above 0.7. The IIQ-7-BR showed 94.31% concordance between the evaluated studies and UDI-6-BR, 93.33%. Thus, the instruments of this study were presented according to the standards proposed by the Instrument Review Criteria, reliability, validity and sensitivity, maintaining the original scales characteristics.

Adaptação transcultural e validação da escala curta do Questionário de Impacto de Incontinência Urinária (IIQ-7) e do Inventário da Angústia Urogenital (UDI-6) na população brasileira com esclerose múltipla (EM). O IIQ-7 e o UDI-6 foram traduzidos para a língua portuguesa, obtendo-se IIQ-7-BR e UDI-6-BR. Os questionários foram aplicados em 211 indivíduos selecionados aleatoriamente. Destes, 140 apresentavam EM nos critérios de McDonald, e 71 foram incluídos no grupo controle. Em ambos os questionários aplicados nos grupos, o coeficiente alpha de Cronbach apresentou-se acima de 0,7. O IIQ-7-BR apresentou 94,31% de concordância entre os estudos avaliados e o UDI-6-BR, 93,33%. Sendo assim, os instrumentos desse estudo apresentaram-se, segundo as normas propostas pelo Instrument Review Criteria, confiabilidade, validade e sensibilidade, mantendo as características das escalas originais.

Prevalência de fatores de risco cardiovascular em profissionais de saúde no ambiente de trabalho / Prevalence of cardiovascular risk factors in health professionals in the work environment

Objetivo: Determinar a prevalência de fatores de risco para doença cardiovascular em profissionais de saúde no ambiente de trabalho. Métodos: Foi realizado um estudo descrito transversal, envolvendo os profissionais do Hospital Municipal Doutor Munir Rafful, que responderam a um questionário, e foram submetidos à avaliação clínica de peso, altura, pressão arterial e avaliação bioquímica do colesterol total. Foi calculada a porcentagem e feita a análise dos resultados. Resultados: Do total de 210 profissionais habilitados, 188 foram avaliados, sendo 57 homens e 131 mulheres. As prevalências dos fatores de risco cardiovascular foram: sedentarismo (83,5 por cento), etilismo (35,6 por cento), hipertensão arterial (22,9 por cento), obesidade (20,2 por cento), tabagismo (19,7 por cento), colesterol maior que 200mg/dl(10,6 por cento). Conclusão: A detecção de índices elevados dos fatores de risco para doenças cardiovasculares em profissionais de saúde é bastante preocupante, visto que servem de exemplo à sociedade, e apontam a necessidade de medidas para promoção da saúde e prevenção de doenças cardiovasculares.