ABSTRACT
BACKGROUND: For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. AIM: Our objective was to assess the clinical utility of targeted versus panCMP panel testing in pediatric CMPs. METHODS: 151 pediatric patients with primary hypertrophic (n = 66), dilated (n = 64), restrictive (n = 8), or left-ventricular non-compaction (n = 13) CMP who underwent clinical genetic panel testing at a single centre were included. PanCMP (n = 47) and targeted panel testing (n = 104) were compared for yield of pathogenic variants and variants of unknown significance (VUS). RESULTS: Pathogenic variants were identified in 26% of patients, 42% had indeterminate results (only VUS detected), and 32% had negative results. Yield was lower (15%) in panCMP vs. targeted panel testing (32%) (P = .03) in all CMP subtypes. VUS detection was higher with panCMP (87%) than targeted panel testing (30%) (P <.0001). PanCMP panel testing only identified pathogenic variants in genes that overlapped targeted panels. CONCLUSION: PanCMP testing did not increase diagnostic yield compared to targeted panel testing. Until accuracy of variant interpretation with panCMP panels improves, targeted panels may be suitable for clinical testing in pediatric CMP.
Subject(s)
Cardiomyopathies/genetics , Genetic Predisposition to Disease/genetics , Genetic Testing/methods , Mutation , Cardiomyopathies/diagnosis , Child , Female , High-Throughput Nucleotide Sequencing/methods , Humans , Male , Reproducibility of Results , Retrospective StudiesABSTRACT
OBJECTIVE: To assess excreta and waste disposal facilities available and their impact on sanitation related diseases in Epworth, an informal settlement on the outskirts of Harare. DESIGN: Descriptive cross-sectional survey. SETTING: This was a community based study of Epworth informal settlement. SUBJECTS: A total of 308 households were interviewed. Participating households were randomly selected from the three communities of Epworth. Secondary medical archival data on diarrhoeal disease prevalence was collected from local clinics and district health offices in the study areas. RESULTS: Only 7% of households were connected to the sewer system. The study revealed that in Zinyengere extension 13% had no toilet facilities, 48% had simple pits and 37% had Blair VIP latrines. In Overspill 2% had no toilet facilities, 28% had simple latrines and 36% had Blair VIP latrines while in New Gada 20% had no toilet facilities, 24% had simple pits and 23% had Blair VIP latrines. Although a significant percentage had latrines (83.2%), over 50% of the population were not satisfied with the toilet facilities they were using. All the respondents expressed dissatisfaction with their domestic waste disposal practices with 46.6% admitting to have indiscriminately dumped waste. According to the community, diarrhoeal diseases were the most prevalent diseases (50%) related to poor sanitation. Health statistics also indicated that diarrhoea was a major problem in this community. CONCLUSION: It is recommended that households and the local authorities concentrate on improving the provision of toilets, water and waste disposal facilities as a way of improving the health state of the community.
