resistance to thyroid hormone is an uncommon condition. we report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. rth is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary tsh secretion and refractoriness to hormone action in peripheral tiss...

Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resis...

BACKGROUND Factor V Leiden (FVL) is a common genetic risk factor for vascular thrombosis in humans. Fabry disease, an X-linked lysosomal storage disorder attributable to alpha-galactosidase A (GLA) deficiency, is associated with premature vascular events that may be thrombotic in nature. METHODS To examine a potential interaction between FvL and Gla deficiency in vivo, we analyzed tissue fibr...

Background—Factor V Leiden (FVL) is a common genetic risk factor for vascular thrombosis in humans. Fabry disease, an X-linked lysosomal storage disorder attributable to -galactosidase A (GLA) deficiency, is associated with premature vascular events that may be thrombotic in nature. Methods and Results—To examine a potential interaction between FvL and Gla deficiency in vivo, we analyzed tissue...

vitamin b12 (cobalamin) is an essential coenzyme for nucleic acid synthesis. animal protein is the major dietary source of vitamin b12. deficiency of vitamin b12 leads to megaloblastic anemia, degeneration of the brain, spinal cord, peripheral nerves, and abnormalities of epithelial tissues. two factors are necessary for the cure of megaloblastic anemia: one in food (extrinsic factor) and one i...

BACKGROUND Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India. OBJECTIVES To comprehensively analyze the ...

FX is a vitamin K-dependent coagulation protease critically essential for the coagulation cascade. FXD (congenital deficiency of factor X) is a rare coagulation disorder that inherited as an autosomal recessive trait. Here we reported a patient with bleeding diathesis from infant. The proband with pseudotumor in cerebral articular and cavity were identified as encapsulated hematocele ultimately...

Haemophilia A is an X-linked disorder caused by a deficiency of factor VIII. Haemorrhage in various sites may occur spontaneously or secondary to trauma depending on the severity of the deficiency. Common manifestations include haemarthrosis, epistaxis, gastrointestinal haemorrhage and haematuria. Spontaneous haemothorax has rarely been reported both in children and adults1,2. We report the cas...