Post Type Archives: Topics

DiGeorge syndrome arises because of a microdeletion of chromosome 22q11.2. This deletion of genetic material leads to a developmental defect that involves the third and fourth pharyngeal pouches. Hypoplasia of the thymus and parathyroid glands, aortic arch as well as facial malformations and learning difficulties are most common abnormalities seen in such cases. Patients have […]

Marfan syndrome is an autosomal dominant disorder causing defect in an extracellular glycoprotein called fibrillin-1. Fibrillin is encoded by the FBN1 gene on chromosome 15.   Pathogenesis Fibrillin is secreted by fibroblasts and is the major component of microfibrils. Microfibrils serve as scaffolding for the deposition of tropoelastin, an integral component of elastic fibers. Microfibrils […]

Sheehan’s syndrome is postpartum hypopituitarism caused by necrosis of the pituitary gland. It is usually the result of severe hypotension or shock caused by massive hemorrhage during or after delivery. Risk factors Increased chance of severe blood loss, at the time of childbirth is the most likely cause. Following are most associated risk factors- Abruptio […]

Hepatocellular carcinoma (HCC) is the most common primary liver malignancy affecting hepatocytes. … … Risk factors HCC is a prototypical inflammation-associated cancer, and inflammation causes immune microenvironment and oxidative stress to Induce DNA damage which plays pivotal roles in inducing mutations. Cirrhosis (most common cause) Chronic hepatitis B infection Chronic hepatitis C infection Alcohol abuse […]

Osteogenesis Imperfecta is a hereditary connective tissue disorder with fragile bones due to decrease in the amount of normal Type I collagen. There is severe reduction in bone density that makes bone brittle, recurrent fractures with minimal trauma is very characteristic feature. Pathogenesis Most common form is autosomal dominant. The mutation compromise triple helix folding, […]

Ehlers-Danlos Syndrome is connective tissue disorder involving collagen synthesis and structure. There are multiple types of EDS, based on Severity of skin and joint involvement Mode of inheritance Type of collagen affected  Clinical manifestation Joint hypermobility Skin hyper extensibility Vascular fragility Organ rupture Types (below are most common types) Classical type – it involves collagen […]

Collagen synthesis happens in Fibroblasts and Extra cellular matrix (ECM). … … Steps inside Fibroblast The Pre-Pro α collagen chain is formed by ribosomes on RER (rough endoplasmic reticulum). The process is called translation (mRNA to Protein formation). This newly formed chain has Glycine-X-Y- Glycine-X-Y- Glycine-X-Y sequence, where X is any other amino acid and […]

Collagen is the most abundant component of connective tissues. It has tensile strength of a steel wire and it provides structural framework to the body. It needs extensive post translational modification, and triple helix tertiary structure for proper functionality. Following are the most common types- Type I – It is most common and found in […]

Hi brainy folks, this is notification about quick review book on Tuberous Sclerosis, it is intended to introduce comics in medicineIt is available Free at Amazon kindle store of your country from 22nd November to 26 November … Hope you enjoy reading it, and please leave a review at Amazon if you like it. Here […]

Molecular Mimicry is the condition where immune system gets confused between “self” and “non-self” antigens due to molecular similarities between an environmental agent (bacteria and virus most commonly) and the host. Molecular mimicry can explain pathogenesis of few autoimmune diseases and this post is about Guillain-Barre Syndrome (GBS). Guillain-Barre Syndrome is characterized by an immune-mediated […]