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ADAM17 is an 824-amino acid polypeptide.[5] [6]ADAM17 has multidomain structure that includes a pro-domain, a metallo-protease domain, a disintegrin domain, a cysteine-rich domain, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail.
The sex steroid deficiency produces effects similar to 17α-hydroxylase deficiency. Severely affected genetic females (XX) are born with normal internal and external genitalia and there are no clues to abnormality until adolescence, when the androgenic and estrogenic signs (e.g., breasts and pubic hair) of puberty either fails to occur or is ...
A novel experimental approach to the hereditary haemochromatosis treatment is the maintenance therapy with polymeric chelators. [ 69 ] [ 70 ] [ 71 ] These polymers or particles have a negligible or null systemic biological availability and they are designed to form stable complexes with Fe 2+ and Fe 3+ in the GIT and thus limiting the uptake of ...
Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones.The adrenal glands—also referred to as the adrenal cortex—normally secrete glucocorticoids (primarily cortisol), mineralocorticoids (primarily aldosterone), and androgens.
Gastric antral vascular ectasia (GAVE) is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia. [1] [2] The condition is associated with dilated small blood vessels in the gastric antrum, which is a distal part of the stomach. [1]
A Cameron lesion is a linear erosion or ulceration of the mucosal folds lining the stomach where it is constricted by the thoracic diaphragm in persons with large hiatal hernias. [1] The lesions may cause chronic blood loss resulting in iron deficiency anemia ; less often they cause acute bleeding.
The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a vesicostomy, which allows the bladder to drain through a small hole in the abdomen, thus helping to prevent urinary tract infections. Similarly, consistent self-catheterization, often several times per day, can be an effective ...
This enzyme is responsible for the interconversion of mannose-6-phosphate and mannose-1-phosphate, and its deficiency leads to a shortage in GDP-mannose and dolichol (Dol)-mannose (Man), two donors required for the synthesis of the lipid-linked oligosaccharide precursor of N-linked glycosylation.