Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.

The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to expanded access of diagnostic DMD analysis. However, it is unclear how much of these advances have also improved healthcare and access to genetic testing for women at-risk of being carriers. This study evaluates the process of genetic counseling and empowerment of genetic information by women from DBMD families. We carried out a cross-sectional study between February and June 2022 in Brazil. The online survey with items regarding sociodemographic data; family history; access to health services; reproductive decisions; and the Genomic Outcome Scale was answered by 123 women recruited from a rare diseases reference service and a nationwide patient advocacy group. Genetic counseling was reported by 77/123 (62.6%) of women and 53.7% reported having performed genetic analysis of DMD. Although the majority knew about the risks for carriers of developing heart disease and muscle weakness, only 35% of potential carriers have had cardiac studies performed at least once in their lives. Country region, type of kinship, number of affected males in the family, age, notion of genetic risk, education level, and participation in advocacy groups were the main factors associated with adequate healthcare access to women and empowerment of genetic information. Education to health professionals and policies to expand access to carrier genetic testing, whether public policies or regulation of pharmaceutical companies' diagnostic programs, is paramount to improve the care of families with DBMD in Brazil.

Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

Diagnostic yield of genetic studies for Charcot-Marie-Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic strategies outside the United States and Europe. We aimed to evaluate the performance of two molecular diagnostic strategies for patients with CMT, and to characterize epidemiological findings of these conditions in southern Brazil. We performed a single-center cross-sectional study, in which 94 patients (55 families) with CMT suspicion were evaluated. Overall, the diagnostic yield of the combined strategy of Multiplex-ligation-dependent-probe-amplification (MLPA) of PMP22/GJB1/MPZ and GJB1/MPZ/PMP22 Sanger sequencing was 63.6% (28/44) for index cases with demyelinating/intermediate CMT suspicion (21 CMT1A-PMP22, 5 CMTX1-GJB1 and 2 with probably CMT1B-MPZ diagnosis). Five of the 11 index cases (45.4%) with axonal CMT had at least a possible diagnosis with next generation sequencing (NGS) panel of 104 inherited neuropathies-related genes (one each with CMT1A-PMP22, CMT2A-MFN2, CMT2K-GDAP1, CMT2U-MARS, CMT2W-HARS1). Detailed clinical, neurophysiological and molecular data of families are provided. Sequential molecular diagnosis strategies with MLPA plus target Sanger sequencing for demyelinating/intermediate CMT had high diagnostic yield, and almost half of axonal CMT families had at least a possible diagnosis with the comprehensive NGS panel. Most frequent subtypes of CMT in our region are CMT1A-PMP22 and CMTX1-GJB1.

Acompanhamento familiar a criancas hospitalizadas / Family follow-up of hospitalized children

Os autores avaliam, em uma amostra de 96 criancas hospitalizadas, o acompanhamento familiar durante o periodo de internacao. As variaveis utilizadas foram estado nutricional, tempo de permanencia hospitalar e o numero de visitas recebidas pelos pacientes. E introduzido o indice de visitacao, o qual avalia quantitativamente o acompanhamento familiar das criancas hospitalizadas. Verificou-se baixo indice de visitacao (53 por cento ), principalmente nos desnutridos de terceiro grau (8 por cento ), os quais tiveram um periodo de internacao superior a 25 dias. Os pacientes eutroficos foram significativamente mais visitados do que os desnutridos de terceiro grau p<0,01 e z calc.=3,24). Enfatiza-se a necessidade de atencao especial as criancas desnutridas de terceiro grau e com perspectivas de hospitalizacao de longo curso. Nao obstante, o tempo de hospitalizacao foi similar entre as criancas que tiveram um acompanhamento familiar diario em comparacao as criancas nao visitadas (p<0,01 e z calc.=1,31). Sugere-se uma avaliacao especifica de cada instituicao hospitalar sobre as atuais condicoes que concernem ao acompanhamento familiar a crianca internada, com o objetivo de minimizar os danos psicologicos na formacao da personalidade destes pacientes