Gaucher disease (GD), a rare genetic disorder inherited via the autosomal recessive mode, is the most prevalent lysosomal storage disorder (1). Mutations in the glucocerebrosidase (GBA) gene lead to GD manifestations (1). Nearly 300 GBA mutations have been identified, including missense, nonsense, splice junction, deletion, insertion, gene fusion,

Introduction: Gestational diabetes mellitus (GDM) is defined as any degree of glucose intolerance first identified during pregnancy and affects 7–18% of pregnancies (1). It increases the risk of maternal and perinatal complications such as preeclampsia, Caesarean section, macrosomia, shoulder dystocia, birth injuries, hypoglycaemia, and respiratory

Introduction: IgA (Immunoglobulin A) nephropathy is the most common primary glomerular disease worldwide and displays a highly variable clinical course (1). The disease is characterised by the deposition of IgA in the glomerular mesangium, often triggered by mucosal immune activation (1). Diagnosis is confirmed through renal biopsy, and management

Deep dive into Kidney Replacement Therapy (KRT) essentials for critically ill patients! Learn principles, modalities, and management. Key Points Discussed: 00:00 Intro 01:10 Presentation By Dr. Fadel Ibrahim. 55:44 How do you manage anticoagulation strategies during continuous kidney replacement therapy to minimize complications? 57:51 Is there any

Join us for an insightful session as Dr. Fadel Ibrahim, Critical Care Consultant, delves into the principles of kidney replacement therapy in critical care medicine. This session will explore current best practices, emerging trends, and the critical decision-making processes involved in managing renal support. Webinar Details: Date: Saturday, 17th

In this unfiltered and eye-opening conversation, Dr. Adithya KNV, Principal Investigator at Mayo Clinic and a diabetes care expert based in Chennai, Tamil Nadu, breaks down the realities of managing diabetes — beyond the numbers. From the economic burden of long-term care and the pitfalls in routine testing, to the often-overlooked mental health ch

Renal calculi are the products of crystallization of stone-forming constituents and affect approximately 10% of individuals, with calcium-based stones comprising 80% of cases. The predominant stone type, calcium oxalate, arises due to an imbalance between calcium and oxalate concentrations or insufficient crystallization inhibitors. A major contrib

Introduction The cation calcium is crucial for neural transmission, enzyme activity, myocardial function, coagulation, and cellular processes. While most calcium is stored in bones as calcium phosphate, a small portion circulates in cells and extracellular fluids. Normal calcium levels range from 8.9 to 10.1 mg/dL, though variations occur based on

Hello, and a warm welcome to MedX, where we bring you the latest news and insights from the world of medicine. FDA Grants Accelerated Approval to Atrasentan for IgA Nephropathy The FDA has granted accelerated approval to atrasentan for adults with primary IgA nephropathy at risk of rapid progression. The Phase III ALIGN trial demonstrated that atra