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 Brazilianpopulation with multiple sclerosis. The IIQ-7 and UDI-6 were translated intoPortuguese, called IIQ-7-BR and UDI-6-BR. The questionnaires were administered in 211individuals selected randomly. Of these, 140 had MS according to McDonald criteria and 71 wereincluded in the control group. In both questionnaires, the Cronbach’s alpha coefficientwas above 0.7. The IIQ-7-BR showed 94.31% concordance between the evaluated studies andUDI-6-BR, 93.33%. Thus, the instruments of this study were presented according to thestandards proposed by the Instrument Review Criteria, reliability, validity and sensitivity,maintaining the original scales characteristics.Adaptação transcultural e validação da escala curta do Questionáriode Impacto de Incontinência Urinária (IIQ-7) e do Inventário daAngústia Urogenital (UDI-6) na população brasileira com esclerosemúltipla (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 211indivíduos selecionados aleatoriamente. Destes, 140 apresentavam EM nos critérios deMcDonald, e 71 foram incluídos no grupo controle. Em ambos os questionários aplicadonos grupos, o coeficiente alpha de Cronbach apresentou-se acima de 0,7. O IIQ-7-BRapresentou 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.Santa Casa de São Paulo Faculdade de Ciências MédicasUniversidade Federal de São Paulo (UNIFESP)UNIFESPSciEL

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

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

Abstract 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