Cardiovascular diseases (CVDs) are one of the leading members of non-communicable diseases. An early diagnosis is essential for effective treatment, to reduce hospitalization time and health care costs. Nowadays, an exercise stress test on an ergometer is used to identify CVDs.
View Article and Find Full Text PDFBackground: CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria.
View Article and Find Full Text PDFCardiovascular diseases are the main cause of death worldwide, with sleep disordered breathing being a further aggravating factor. Respiratory illnesses are the third leading cause of death amongst the noncommunicable diseases. The current COVID-19 pandemic, however, also highlights the impact of communicable respiratory syndromes.
View Article and Find Full Text PDFObjective: Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition in which progressive ossification of fibrous tissue, tendons and ligaments leads to severe physical handicap. Most affected individuals who have been studied have a recurrent 617G>A mutation in the ACVR1/ALK2 gene that codes for activin A type 1 receptor/activin-like kinase 2. The majority of publications on the genetics of FOP have concerned whites or Asians, and no genetic information is available concerning sub-Saharan blacks.
View Article and Find Full Text PDFFibrodysplasia ossificans progressiva is a rare genetic disorder in which progressive ossification of connective tissue leads to severe disability. The condition is an autosomal dominant trait, and most of the affected persons represent new mutations for the determinant gene, ACVR1, chromosomal locus 2q23-24. Although fibrodysplasia ossificans progressiva has a worldwide distribution, there are only a few reports of affected persons of indigenous African stock.
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