1.
Renal Scarring and Osteopontin Gene C/T Polymorphism in Children With Primary Vesicoureteral Reflux.
Indian Pediatr
;
2012 April; 49(4): 311-313
Article
in English
| IMSEAR
| ID: sea-169298
ABSTRACT
We examined for osteopontin (OPN) gene C/T polymorphism in 78 patients (53 girls) with vesicoureteric reflux, with or without renal scarring. The T allele frequency was associated with a significantly increased risk (26.4 fold) of renal scarring.
2.
Indian J Pediatr
;
2008 Jun; 75(6): 632-4
Article
in English
| IMSEAR
| ID: sea-81513
ABSTRACT
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.