The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and s...

Recent studies have suggested an association between several channulopathy diseases. However, the mechanism remains unclear. The aim of this case was to demonstrate the relation between Brugada Syndrome (BrS) and Early Repolarization Syndrome (ERS). We presented herein a 46_year_old women with no familial history of sudden death. She was hospitalized for ventricular tachycardia with a lipothymi...

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...

Behcet’s disease is a multisystem disease characterized clinically by oral aphthae and occasionally by genital aphthae, cutaneous lesions such as pustular vasculitis, sweet syndrome-like, pyoderma gangrenosum-like and erythema nodosum-like lesions and variably present systemic features such as synovitis, anterior and posterior uveitis, meningoencephalitis and large vessel smaller vessel vascula...

We present 2 patients with Streptococcus agalactiae toxic shock-like syndrome and review another 11 well-reported cases from the literature. Streptococcal toxic shock-like syndrome is a devastating illness with a high mortality rate, therefore we stress the importance of early supportive management, antimicrobial therapy, and surgical intervention. Toxic shock-like syndrome is likely to be unde...

Background: Polycystic ovary syndrome is a common endocrine disorder with 3-7% prevalence in the general population and 10% in women of childbearing. This rate has increased in infertile women. The main composition of this syndrome includes anovulation or olygoovulation, clinical and laboratory signs of increased androgens and observation polycystic ovaries on ultrasound in evaluation. In this ...