Associação da prática de atividade física e do estado de saúde sobre a qualidade de vida de mulheres com fibromialgia

This study analyzed the association between physical activity, health status and life quality among women with fibromyalgia. Cross-sectional study based on the clinical information of 177 women (42.1 ± 8.6 years old) diagnosed with fibromyalgia and assisted in rheumatology clinics of the private sector of the Unified Health System (UHS) in the city of Maringá-PR, Brazil. The instruments were the International Physical Activity Questionnaire (IPAQ), the Fibromyalgia Impact Questionnaire (FIQ) and the WHOQOL-Bref. Data analysis was conducted through Mann-Whitney test, Spearman correlation and Structural Equation Analysis (p<0.05). Results showed positive correlations between physical activity and life quality domain. Health status showed negative correlation life quality domains. Structural Equation Analysis revealed days of walking per week showed positive association with life quality domains. Model 3 showed that the impact of fibromyalgia on the health status showed a moderate negative association with life quality domains. Based on the results obtained, the conclusion is that light physical activity, characterized as walking, represents a positive factor in the domains of quality of life in women with fibromyalgia and also, the impact of this disease on the health status of the patients is associated negatively areas of quality of life.301Este estudo analisou a associação entre atividade física, estado de saúde e qualidade de vida de mulheres com fibromialgia. Estudo transversal baseado na informação clínica de 177 mulheres (42,1 ± 8,6 anos) diagnosticadas com fibromialgia e auxiliadas em clínicas de reumatologia do setor privado do Sistema Único de Saúde (SUS) na cidade de Maringá-PR, Brasil. Os instrumentos utilizados foram o Questionário Internacional de Atividade Física (IPAQ), o Questionário de Impacto da Fibromialgia (FIQ) e o WHOQOL-Bref. A análise dos dados foi realizada através do teste de Mann-Whitney, correlação de Spearman e Análise de Equações Estruturais (p <0,05). Os resultados mostraram correlações positivas entre a atividade física e o domínio da qualidade de vida. O estado de saúde apresentou correlações negativas com a qualidade de vida. A Análise de Equação Estrutural revelou que os dias de caminhada por semana se associou positivamente com domínios de qualidade de vida. O modelo 3 mostrou que o impacto da fibromialgia no estado de saúde apresentou associação negativa e moderada com os domínios de qualidade de vida. Com base nos resultados obtidos, conclui-se que a atividade física leve, caracterizada pela caminhada, representa um fator positivo nos domínios da qualidade de vida em mulheres com fibromialgia e também, o impacto desta doença sobre o estado de saúde dos pacientes está associado negativamente domínios da qualidade de vida

Aedes albopictus diversity and relationships in south-western Europe and Brazil by rDNA/mtDNA and phenotypic analyses: ITS-2, a useful marker for spread studies

Background: Aedes albopictus is a very invasive mosquito, which has recently colonized tropical and temperate regions worldwide. Of concern is its role in the spread of emerging or re-emerging mosquito-borne diseases. Ae. albopictus from south-western Europe and Brazil were studied to infer genetic and phenetic diversity at intra-individual, intra-population and inter-population levels, and to analyse its spread. Methods: Genotyping was made by rDNA 5.8S-ITS-2 and mtDNA cox1 sequencing to assess haplotype and nucleotide diversity, genetic distances and phylogenetic networks. Male and female phenotyping included combined landmark-and outlined-based geometric morphometrics of wing size and shape. Results: Specimens from seven populations from Spain, France and Brazil provided 12 cox1 and 162 5.8S-ITS-2 haplotypes, with great genetic variability difference between both markers (0.9% vs 31.2%). Five cox1 haplotypes were shared with other countries, mainly Italy, USA and China, but none was shared between Europe and Brazil. The 5.8S-ITS-2 showed 2–7 intra-individual (mean 4.7) and 16–34 intra-/inter-population haplotypes (24.7), including haplotypes shared between Spain, France and Brazil. A 4.3% of ITS-2 haplotypes were shared, mainly with Italy, USA and Thailand, evidencing worldwide spread and introductions from areas where recent outbreaks of Ae. albopictus-transmitted pathogens occurred. Wing size showed sex differences. Wing shape distinguished between Brazilian and European specimens. Both genetic and morphometric markers showed differences between insular Spain and continental Spain, France and Brazil. Conclusions: ITS-2 proves to be a useful marker to assess Ae. albopictus spread, providing pronouncedly more information than cox1, including intra-individual, intra-population and inter-population levels, furnishing a complete overview of the evolutionary exchanges followed by this mosquito. Wing morphometry proves to be a useful phenotyping marker, allowing to distinguish different populations at the level of both male and female specimens. Results indicate the need for periodic surveillance monitorings to verify that no Ae. albopictus with high virus transmission capacity is introduced into Europe. Graphic Abstract: [Figure not available: see fulltext.] © 2021, The Author(s)

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

[EN]Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. Here, we describe a unique collaborative practice model among physicians and scientists in Spain focused on identifying TK2 deficiency (TK2d), an ultra-rare mitochondrial DNA depletion and deletions syndrome. Main Body: This collaboration spans research and clinical care, including laboratory scientists, adult and pediatric neuromuscular clinicians, geneticists, and pathologists, and has resulted in diagnosis and consolidation of care for patients with TK2d. The incidence ofTK2d is not known; however, the first clinical cases ofTK2d were reported in 2001, and only similar to 107 unique cases had been reported as of 2018. This unique collaboration in Spain has led to the diagnosis of more than 30 patients with genetically confirmed TK2d across different regions of the country. Research affiliate centers have led investigative treatment with nucleosides based on understanding ofTK2d clinical manifestations and disease mechanisms, which resulted in successful treatment of a TK2d mouse model with nucleotide therapy in 2010. Only 1 year later, this collaboration enabled rapid adoption of treatment with pyrimidine nucleotides (and later, nucleosides) under compassionate use. Success in TK2d diagnosis and treatment in Spain is attributable to two important factors: Spain's fully public national healthcare system, and the designation in 2015 of major National Reference Centers for Neuromuscular Disorders (CSURs). CSUR networking and dissemination facilitated development of a collaborative care network for TK2d disease, wherein participants share information and protocols to request approval from the Ministry of Health to initiate nucleoside therapy. Data have recently been collected in a retrospective study conducted under a Good Clinical Practice-compliant protocol to support development of a new therapeutic approach for TK2d, a progressive disease with no approved therapies. Conclusions: The Spanish experience in diagnosis and treatment of TK2d is a model for the diagnosis and development of new treatments for very rare diseases within an existing healthcare system.This study was sponsored by Zogenix, Inc., and ERN EURO-NMD. The sponsors reviewed the drafts and provided medical writing support for draft preparation