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10 Cards in this Set

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Glycogen storage disorder in which glycogen with short outer chains get accumulated, and the enzyme deficient in it

Type 3 glycogen storage disorder - Cori's disease (aka limit dextrinosis, forbes disease)


Glycogen debranching enzyme is deficient


How does Cori's disease progress in children ?


Most often , Cori's disease get resolved spontaneously.But some go on to develop liver cirrhosis and hepatocellular carcinoma


pisciform (>10 yrs) is appeared and base of 1 metacarpal is not fused (<17 yrs)10-17 yrs of age


Appearing Sequence of ossification centres of carpal bones


Capitate - 1-3 months


Hamate - 2-4 months


Triquetrum - 2-3 yrs


Lunate - 3-4 yrs


Scaphoid - 4-6 yrs


Trapezium - 5-6 yrs


Trapezoid - 5-6 yrs


Pisciform - 10-12 yrs


Pelvicalcyceal system is dilated with normal distal urinary tract. Likely condition ?


Ureteropelvic junction obstruction


1st and 2nd Most common causes for Hydronephrosis


1st - UPJ obstruction


2nd - Vesicoureteral reflux


Enlist Chromosomes and genes involved in all Multiple Endocrinal Neoplasia syndromes


MEN 1 - Chromsome 11q13 , MEN1 gene


MEN 2A and 2B - Chromosome 10, RET proto-oncogene


MEN 4 - Chromosome 12, CDKN1B gene


Characteristic conditions in all MEN syndromes


MEN 1 - Par Pan Pit


Parathyroid adenoma


Pancreatic endocrine tumors (mc - gastrinoma)


Pituitary adenomas (mc - prolactinoma)



MEN 2A - Thyroid, adrenal, parathyroid


Medullary carcinoma of Thyroid


Pheochromocytoma


Parathyroid adenoma



MEN 2B - Thyroid, adrenal, neuromas


Medullary carcinoma of Thyroid


Pheochromocytoma


Mucosal neuromas


Intestinal Ganglioneuromas


Marfoid habitus


Medullated corneal nerve fibres



MEN 4 - MEN 1 minus pan, plus reproductive , adrenal, renal tumors


Parathyroid adenoma


Pituitary adenoma


Reproductive organ tumors


Adrenal and renal tumors


Cilnidipine blocks which calcium channel types ?


N and L type ca channels

Location of L type and N type ca channels


L type - blood vessels


N type - sympathetic nerve endings