Post Type Archives: Topics

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 […]

Lambert Eaton syndrome is a neuromuscular junction (NMJ) disorder characterized by proximal muscle weakness, decreased deep tendon reflexes autonomic symptoms (dry mouth, impotence) … … Pathogenesis The immune system attacks the calcium channels on presynaptic motor neuron. With fewer calcium channels there is reduced release of acetylcholine. Acetylcholine is a chemical messenger that triggers muscle […]

What happens Normally……. At the Neuromuscular Junction acetylcholine (ACh) is synthesized in the motor nerve terminal and stored in vesicles. When an action potential travels down a motor nerve and reaches the presynaptic nerve terminal, ACh is released from these vesicles and attaches to AChRs (Acetylcholine Receptors) that are densely packed at the peaks of […]

Wilson disease is caused by mutation of the ATP7B gene, which results in impaired copper excretion and accumulation of toxic levels of copper in many organs principally the liver, brain, and eye. … … Pathogenesis It is an autosomal recessive disorder having mutations in the ATP7B gene, which encodes a membrane-bound, copper-transporting ATPase. The defect […]

Hemochromatosis is an iron overload disease and excessive iron causes increased free radicle injury, fibrosis and organ failure. There is inappropriately low production of the hormone hepcidin. This leads to an increase in intestinal iron absorption and the deposition of excessive amounts of iron in parenchymal cells which leads to tissue damage and organ failure. […]