The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that p...

Abstract Klinefelter Syndrome (KS) is the most common X chromosome aneuploidy in males characterized by highly heterogeneous clinical manifestations including a subtle cognitive impairment and multisystemic disorders such as infertility, metabolic syndrome, gynecomastia cardiovascular diseases. To date dosage-dependent correlation studies of X-linked genes low- high-grade KS phenotypes have not...

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnos...

Nonatherosclerotic vascular diseases of the mesenteric and renal arteries are considered to occur less frequently than those caused by occlusive atherosclerotic disease. However, when present, they pose a significant diagnostic and therapeutic challenge. Such disorders include fibromuscular dysplasia, median arcuate ligament syndrome, the renal nutcracker syndrome, and some forms of acute and c...

background: polycystic ovary syndrome (pcos) is a heterogeneous complex genetic disorder characterized by hyperandrogenemia hyperinsulinemia insulin resistance and chronic anovulation. it is the most common endocrine disorder in women of reproductive age with an enigmatic pathophysiologic and molecular basis. obesity hyperandrogenism and infertility occur frequently in pcos which mostly have a ...

Polycystic ovary syndrome (PCOS) is a heterogeneous spectrum of symptoms lasting throughout the lifecycle. The syndrome combines reproductive as well as metabolic aberrations associated with increased cardiovascular risk. The presence of three different definitions for the diagnosis of PCOS reflects the phenotypic diversity of the syndrome. The clinical manifestations and the sequelae of PCOS v...

acute respiratory distress syndrome (ards) is a complex disorder of heterogeneous etiologies characterized by a consistent, recognizable pattern of lung injury and a potentially devastating form of acute inflammatory lung injury with a high short-term mortality rate and significant long-term consequences among survivors. recently, the new definition of ards has been published, and this definiti...

In this work, we present a computational study of the Brugada Syndrome (BrS) phenotype aimed at investigating main factors contributing to development arrhythmias. We developed model that incorporated BrS substrate within region resembling right ventricular outflow tract (RVOT) in three-dimensional anisotropic cardiac tissue with transmural heterogeneity. Consistent our previous two-dimensional...