1,720,980 research outputs found
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus
No full textLate onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus
No full textA pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region
No full textA neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for congenital adrenal hyperplasia (CAH), has been conducted in Campania Region, Southern Italy. In 4380 neonates, aged 2-10 days, capillary blood from a heel prick was collected on microfilter paper, and 17-alpha-hydroxyprogesterone (17OHP) measured by radioimmunoassay (RIA) using a highly specific antibody (Ab A). In addition, in 295 of these samples, both 17OHP and 11-deoxycortisol (S) were measured using an anti-deoxycortisol antibody (Ab B) cross-reacting with 17OHP 100%. All results were compared with plasma 17OHP and S levels in 21 patients with diagnosed 21-hydroxylase deficiency and in 5 healthy volunteers on metyrapone test used for blocking the 11-beta-hydroxylase activity. CAH due to 21-hydroxylase deficiency was diagnosed in a female newborn. The assay, based on the antibody reacting with both 17OHP and S, is particularly suitable for wide-scale screening programs enabling the simultaneous detection of two congenital enzyme defects
Patologia Generale
No full textTrattato di Patologia Generale per gli studenti di Medicina e Chirurgi
The length of polyglutamine tract, its level of expression, the rate of degradation and transglutaminase activity influence the formation of intracellular aggregates.
No full text
The length of polyglutamine tract, its level of expression, the rate of degradation and transglutaminase activity influence the formation of intracellular aggregates.
No full text- …
