Anabolic-androgenic steroid use in a young body-builder: A case report and review of the literature.

Introduction: Anabolic-androgenic steroid (AAS) abuse is routine in athletes to enhance their overall physique. It often leads to detrimental effects, including cardiovascular diseases, hormonal imbalances, and cancer. Our case presentation emphasizes two important aspects: the first is the importance of thorough history taking in correctly diagnosing diseases with multiple etiologies.

A novel chest CT severity score in COVID-19 and its correlation with severity and prognosis of the lung disease: A retrospective cohort study.

Background: HRCT chest has a high sensitivity in the diagnosis of patients with COVID-19 infection. Through our study, we intend to evaluate the diagnostic accuracy and inter-reader variability of a semi-quantitative CT severity score, a novel parameter designed for risk stratification and prognostication of COVID-19 pneumonia with clinical staging of disease.

Methods: It was a single-center retrospective analysis performed on an original cohort of 4180 symptomatic patients with the suspicion of SARS-CoV-2 interstitial pneumonia.

Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy.

Background: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a rare multisystem disorder that mainly affects the digestive and nervous systems. Key features of the disease include cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy and leucoencephalopathy. Symptoms most often begin by age 20 and overlap several other Metabolic and endocrine disorders making the diagnosis challenging.

Fibroblast Growth Factor 21 and Its Association With Oxidative Stress and Lipid Profile in Type 2 Diabetes Mellitus.

Introduction Cardiovascular diseases are the leading cause of mortality in diabetic patients. Oxidative stress and mitochondrial dysfunction lead to diabetic cardiomyopathy (DCM) characterized by impaired cardiac structure and function. Hyperglycemia causes oxidative stress, which can lead to microvascular complications, macrovascular complications, and atherosclerosis.

The Promising Future of Low-Molecular-Weight Heparin in Pediatric Cerebral Venous Sinus Thrombosis Occurring as a Rare Complication of Ulcerative Colitis.

Pediatric cerebral venous sinus thrombosis (CVST) is a rare complication of ulcerative colitis. Ulcerative colitis is a form of inflammatory bowel disease which accentuates hypercoagulation, thereby leading to thrombosis. Herein, we report a case of a 10-year-old girl who presented with chief complaints of headache, confusion, and new-onset seizure activity for one month as progressively worsening sequelae of ulcerative colitis.

Association of quality of life, anxiety, and depression with restless leg syndrome in the hemodialysis patients.

Objectives: Restless Legs Syndrome (RLS) is commonly known to cause morbidity in patients on hemodialysis, making them prone to chronic mental health illnesses such as depression and anxiety, and also adversely impact quality of life. In this study, we examined the association of quality of life, anxiety, and depression with restless leg syndrome in the hemodialysis patients at Karachi Institute of Kidney Diseases.

Results: About 26.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Introduction: Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and developmental defects which may include pterygia (joint webbing). Traditionally multiple pterygium syndrome (MPS) has been divided into two forms: prenatally lethal (LMPS) and non-lethal Escobar type (EVMPS) types. Interestingly, FADS, LMPS and EVMPS may be allelic e.