Myasthenia Gravis: Pathogenesis

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: Copper everywhere

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: Bronzed Iron Man

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. […]

Polymyalgia rheumatica : mournful mornings

Polymyalgia rheumatica is chronic inflammatory disease of unknown etiology that affects individuals (>50 years). Female to male ratio is 2:1. It is characterized by proximal myalgia of the hip and shoulder girdles with accompanying morning stiffness that lasts for more than 60 minutes. 15-20 % of patients with PMR develop giant cell arteritis. … … […]

Bacillus cereus : Reheated rice syndrome

Bacillus cereus is a Gram-positive, rod-shaped, aerobe, motile, beta-hemolytic, and spore-forming bacterium commonly found in soil and food. Cereus is a Latin word meaning “waxy” and refers to the waxy appearance of its growth on blood agar. Transmission occurs via ingestion of spores or toxins. … … It causes foodborne illnesses, Ingestion of food contaminated […]

Pseudomonas aeruginosa: Nosocomial terrorist

Pseudomonas aeruginosa is gram-negative microorganism rod, which cause opportunistic infections in human beings whose defenses are altered. Immunocompromised, recently operated and burned patients in hospitals are most commonly affected. … … It is abundantly found in environment but moist surfaces example sink, water bath, humidifiers, ventilators and urine receptacles are its favorite.It is abundantly found […]

Behcet syndrome: Ulcers, Blindness and Vasculitis

Behcet syndrome is a systemic all vessel vasculitis presenting with recurrent oral and genital ulcerations, skin lesions and eye problems are also seen. … … Etiology and pathogenesis Cause-Unknown/ idiopathic. Males are affected more than females and often have severe disease. It is autoinflammatory and autoimmune disorder which has perivasculitis and endothelial swelling in beginning […]

Giardia: Explosive Diarrhea for Hikers

Giardia intestinalis aka G. lamblia is a protozoal parasite that inhabits the small intestines of humans and other mammals. Giardiasis is one of the most common parasitic diseases in both developed and developing countries worldwide. It is most common cause of both endemic and epidemic intestinal disease, malabsorption and diarrhea. It is most common cause […]

Achondroplasia: Intelligent, Disproportionate Dwarf

Achondroplasia is the most common congenital skeletal dysplasia and a major cause of disproportionate dwarfism. It is an autosomal dominant disorder frequently occurs due to spontaneous mutation also called De Novo, many cases will not have an associated family history. … … … Pathogenesis The disease is caused by gain-of-function mutations in fibroblast growth factor […]

Addison Disease : primary adrenal insufficiency

Addison disease is a disorder resulting from progressive destruction of the adrenal cortex. Most common cause of chronic adrenal insufficiency/ Addison disease in the Western world (developed world) is the autoimmune adrenalitis, in developing world Tuberculosis is the most common cause. … … Pathogenesis More than 90% of cases of Addison disease can be attributed […]