Regional heterogeneity of electrophysiological properties within the human ventricular wall is based on changes in ion channel kinetics and densities. This leads to a dispersion of repolarization, which causes the positive T wave in the ECG. Due to genetic defects, diseases, or drugs, which causes e.g. long-QT syndrome, the physiological heterogeneous properties get out of tune. The aim of this...

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by early onset retinitis pigmentosa, post axial polydactyly, central obesity, mental retardation, hypogonadism and kidney structural abnormalities or functional impairment.1 We report here a typical case of Laurence-Moon-Bardet-Biedl syndrome in an eleven-year old boy wit...

Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumour development. Russell-Silver syndrome (RSS) is a genetically heterogeneous disorder involving both intrauterine and postnatal growth retardation. The incidence of both BWS and RSS is estimated to be approximately 1 in 10,000-15,000 newborns and around 85% of ...

Post-COVID-19 syndrome is an ongoing challenge for healthcare systems as well society. The clinical picture of post-COVID-19 heterogeneous, including fatigue, sleep disturbances, pain, hair loss, and gastrointestinal symptoms such chronic diarrhea. Neurological complaints cognitive impairment, disturbances are common. Due to the short timeframe experience small amount evidence in this field, tr...

Cutaneous manifestations of haematological malignancies, although well recognized in acute monoblastic leukaemia and lymphoma, are relatively uncommon in primary myelodysplastic syndrome (MDS), which is a group of heterogeneous disorders formerly known as pre-leukaemia. Previously reported cases of skin involvement in this syndrome have been confined to a sub-type of MDS, namely chronic myelomo...

Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet...

Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.

serum. A review of the reports on similar cases showed no male preponderance (50%). In contrast, the heterogeneous group ofhypoplastic left heart syndrome showed 64per cent male preponderance. The mean maternal age was 3I years in hypoplastic left heart syndrome, excluding patients with interruption of the aortic arch and mitral and aortic valve atresia where the mean maternal age was lower, 22...