ABSTRACT
BACKGROUND: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases that can occur without the full spectrum, and with overlapping in symptoms. METHODS: We analyzed a cohort of 125 patients with suspected hepatic GSD through a next-generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools. RESULTS: Twenty-seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene. CONCLUSIONS: The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.
Subject(s)
Biomarkers/analysis , Glycogen Storage Disease/diagnosis , Liver Diseases/diagnosis , Mutation , Brazil/epidemiology , Cohort Studies , Female , Follow-Up Studies , Glycogen Storage Disease/genetics , High-Throughput Nucleotide Sequencing , Humans , Liver Diseases/genetics , Male , PrognosisABSTRACT
AIMS: The purpose of this study is assess the association between mother's Sense of Coherence (SOC) and the oral health status of children with and without mucopolysaccharidosis (MPS). METHODS: A cross-sectional study was carried out with 29 children/adolescents with MPS and 29 children/adolescents without MPS, and their mothers in Brazil. Mothers completed the Antonovsky's SOC instrument (SOC-13) and their children's oral cavity had been examined for developmental defects of enamel (DDE), occlusal problems, dental caries (DMFT/dmft) and oral hygiene. This study was approved by the Research Ethics Committee of the Universidade Federal de Minas Gerais. RESULTS: Mothers of children with MPS had lower SOC scores (mean: 33.3 [±4.0]) compared with mothers of children without MPS (mean: 36.9 [±4.5]) (p < 0.001). Mother's SOC of children with MPS were lower for those children with one or more decayed teeth (31.5 [±3.2]) than for those children/adolescents without caries (35.7 [±3.8]) (p = 0.004) and lower for those children/adolescents with one or more missing teeth (30.2 [±0.9]) than for those individuals identified without missing teeth (33.8 [±4.1]) (p = 0.046). CONCLUSION: Mothers' SOC of children/adolescents with MPS was associated with dental caries experience in their children. Improving mothers' SOC should contribute to a better quality of life for their children.