Article Topic: Tuberous Sclerosis. Author: Shahd Etoom. Editor: Rahmeh Adel. Reviewer: Ethar Hazaimeh. Keywords: Tuberous sclerosis complex (TSC); Dermatology; Sirolimus; Lymphangioleiomyomatosis (LAM); RAS homolog enriched in brain (Rheb); Mammalian target of rapamycin (mTOR). Abstract Tuberous Sclerosis Complex (TSC), sometimes called Epiloia or Bourneville-Pringle disease, is an autosomal dominant neurocutaneous syndrome with a range of clinical manifestations. It is a multisystem condition that could be randomly linked to hamartomas in several organs. Dermatologists greatly aid the history of the condition, as the most common finding is cutaneous involvement, which allows for early diagnosis of the syndrome and intervention throughout its natural course. […]

Article topic: McArdle’s Disease Author: Shahd Aktham Etoom Editor: Ahmad Abuaisheh. Reviewer: Ethar Hazaimeh Keywords: McArdle disease (MD), glycogen storage disease type V (GSDV), glycogen phosphorylase (PYGM), creatine kinase (CK). Synonyms: Glycogenosis Type V )GSDV(, McArdle Disease, Muscle Glycogen Phosphorylase Deficiency, Myophosphorylase Deficiency, PYGM Deficiency. Abstract Glycogen storage diseases (GSDs) are faulty hereditary glycogen metabolism conditions, characterized by deposits or atypical forms of glycogen in the liver, muscle, and brain tissues. This inborn metabolic mistake offers a model for comprehending the significance of glycogen in muscle function and the compensatory adaptations that arise in response to decreased glycogenolysis since muscle […]