Category Archives: Congenital disorders

image:  Dr Mariona Graupera’s Endothelial pathobiology and microenvironment Group, from the Josep Carreras Leukaemia Research Institute view more  Credit: Josep Carreras Leukaemia Research Institute Blood vessels are responsible of the appropriate and efficient delivery of nutrients and oxygen to the whole body. To do so, they must grow and branch to reach every cell in […]

Welcome back to Diagnosis, a vertical that focuses on the crossroads of health care policy and politics. — Budgetary matters — Gov. Ron DeSantis may spend a lot of time on the campaign trail, but we also expected him to roll out his budget for 2024 in the next several days. Senate committees have already […]

By Iram Ramzan Published: 19:27 EST, 29 November 2023 | Updated: 19:27 EST, 29 November 2023

Gene dosage mechanisms are required to maintain the expression of haploinsufficient genes properly, which, if misregulated, can lead to many developmental disorders. For the first time, researchers from the Max Planck Institute of Immunobiology and Epigenetics have shown that a protein called MSL2 can recognize these dosage-sensitive genes and ensure they are expressed in both […]

Your morning summary of digital health news, information and events to know about if you want to be “in the know”.    👇 News   😀 Bupa UK Insurance is rolling out a new suite of preventative and proactive wellbeing products and services to all its health insurance customers to help them stay healthy, identify potential risks […]

Developed in Germany in the 1950s, thalidomide was originally used as a sedative or tranquiliser, but soon became widely promoted around the world as a morning sickness drug. As usage increased, so too did reports of birth defects – usually in the form of significantly shortened limbs. It was an Australian report in The Lancet […]

Introduction Caregivers of disabled children are essential for maintaining and improving the health status of the affected child.1 As the disability of the affected individuals increases, the physical and psychological burden on their caregivers increases.2,3 Caregivers help the affected person in many activities, including bed mobility, transition to sitting, standing, mobility, toileting, bathing, dressing, eating, […]

Introduction Uremia is a symptom of the final stage of chronic renal failure, which is clinically characterized by aberrant water, electrolyte, acid, and base balance and increased blood levels of metabolites, such as creatinine and urea.1 The uremia stage is often associated with a number of secondary conditions and comorbidities of chronic kidney disease (CKD), […]