Rud's syndrome

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...

The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...

DefinitionIrritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by recurrent combinations of abdominal pain, bloating, diarrhea, or constipation.Pathophysiology of irritable bowel syndromeIts pathophysiology is multifactorial, involving disturbances in motility, sensory processing, microbial balance, barrier integrity, and gut–brain communication. These mechanisms interact to produce symptoms that vary across IBS subtypes.Altered Motility...

Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are: