New mutation in the NEBL gene in a family with Hypertrophic cardiomyopathy: Complexity of whole exome sequencing results interpretation

Objective: Hypertrophic cardiomyopathy is a most common genetic cardiovascular disease which is predominantly inherited with autosomal dominant pattern. In this study, Genetic analysis of a family affected by Hypertrophic cardiomyopathy with three patients was done using whole exome sequencing. Materials and Methods: whole exome sequencing was performed on two affected individuals and one healthy family member. Candidate variant was evaluated using sanger sequencing on other family members. Given the novelity of candidate variant, it was also studied in 200 healthy individuals. Different bioinformatics analyzes were performed to evaluate variant pathogenicity. Results: The candidate variant was present in two affected patients as well as in a two apparently healthy sibling. This variant was novel and did not exist in any databases. Echocardiographic results on family members showed that another proband’s brother was affected and didn’t have a candidate variant. Also, this variant was not found in a 200 healthy population. Bioinformatic analysis revealed the pathogenicity of the variant. Conclusion: Although all the early studies of the candidate variant showed it as a causative variant , further studies on more individuals of the family rejected its causality alone and from these results it can be concluded that the results of exome sequencing should be analyzed carefully and it need further study in a pedigrees with more affected individuals and functional studies to prove the variant as a pathogenic.

Grieves and struggles of family caregivers providing care for bedridden elderly patients affected by chronic degenerative diseases

Objective. To understand grieves and struggles of family caregivers providing care for bedridden elderly patients affected by chronic degenerative diseases. Methods. This cross-sectional study was developed following the guidelines of the clinical-qualitative method. The sample was composed of 10 female family caregivers of bedridden elderly patients affected by chronic degenerative diseases in a city in the interior of Minas Gerais, Brazil. The sample size was determined by data saturation. The instruments used included semi-structured interviews and a field diary. The audio-recorded interviews were transcribed verbatim and submitted to content analysis. The field diary provided contributions to the organization of categories, conferring a more accurate context. Results. The participants experienced two types of grief, one for the loss of a “healthy family member” and the other for the “announced death” of this person. Additionally, the participants faced two main struggles: overcoming (objective and subjective) fatigue and becoming fully capable of performing their roles. Conclusion. The family caregivers of bedridden elderly patients affected by chronic degenerative diseases experience grieves and struggles that should be taken into account from the beginning of the care process through mental health actions intended to meet their needs.