These results suggest that there are substantial variations in glycaemic control among people with Type 1 diabetes between the data sources and that there is room for improvement in all populations, especially in young adults.
Treatment with GAD-alum did not significantly reduce the loss of stimulated C peptide or improve clinical outcomes over a 15-month period. (Funded by Diamyd Medical and the Swedish Child Diabetes Foundation; ClinicalTrials.gov number, NCT00723411.).
Cysti c fi br osi s (CF), the most common sever e autosomal r ecessi ve tr ai t among Caucasi ans, i s caused by mol ecul ar l esi ons i n the cysti c fi br osi s tr ansmembr ane conductance r egul ator gene (CFTR). The cour se of the mul ti -or gan di sease CF i s hi ghl y var i abl e, suggesti ng the i nfl uence of envi r onmental factor s and/or modul ati ng genes other than CFTR on the di sease phenotype. To evaluate the cause of CF disease variability, the European CF Twin and Sibling Study col l ected data on tw o cl i ni cal par ameter s most sensi ti ve for the cour se and pr ognosi s of CF, i e w ei ght pr edi cted for hei ght (w fh)% (r epr esentati ve for the nutr i ti onal status) and FEVPer c (r epr esentati ve for the pul monar y status) for a cohor t of 277 si bl i ng pai r s, 12 pai r s of di zygous tw i ns and 29 pai r s of monozygous tw i ns. Of these 318 CF tw i n and si b pai r s, 114 w er e r epor ted to be homozygous for the most fr equent CF di sease-causi ng l esi on, ∆F508. I ntr a-pai r di scor dance w as assessed by the i ntr a-pai r di ffer ences w i th w fh% and FEVPer c and by DELTA , a composi te par ameter defi ned by l i near combi nati on of w fh% and FEVPer c i n or der to descr i be di scor dance w i th r espect to the overall disease severity. Monozygous twins had a significantly lower DELTA than dizygous twins (P = 0.05) i ndi cati ng that CF di sease sever i ty i s modul ated by an i nher i ted component i n addi ti on to the CFTR gene i tsel f. Extr eme phenotypes ar e consi der ed to be mor e i nfor mati ve for the anal ysi s of any quanti tati ve tr ai t. Thus, w e ai med to quanti fy di sease sever i ty and i ntr a-pai r di scor dance i n or der to sel ect pai r s w i th the extr eme phenotypes DI S (di scor dant pati ent pai r s), CON + (concor dant and mi l dy affected pati ent pai r s) and CON -(concor dant and sever el y affected pati ent pairs). The algorithm reliably discriminated between pairs DIS, CON + and CON -among the cohor t of ∆F508 homozygotes. The sel ected pai r s fr om these categor i es demonstr ated non-over l appi ng pr oper ti es for w fh%, FEVPer c and the i ntr a-pai r di ffer ence of both par ameter s. Twin Research (2000) 3, 277-293. Keyw or ds: cysti c fi brosi s di sease severi ty, affected rel ati ve pai r, tw i n and si bl i ng study, extreme phenotypes, al gori thm based sel ecti on I ntr oducti on Cysti c fi brosi s (CF) i s know n as the most common severe autosomal recessi ve di sease w i thi n the Caucasi an popul ati on, exhi bi ti ng an i nci dence of 1 i n 2500 bi rths.1 The symptoms of the di sorder are caused by an i mpai red functi on of exocri ne gl ands i n many organs, but major mani festati ons i nvol ve the respi ratory and the gastroi ntesti nal tracts.1 The di sease i s caused by mutati ons i n both chromosomal copi es of the cysti c fi brosi s transmembrane conductance regul ator (CFTR) gene. 2 The course of CF i s hi ghl y vari abl e w hen compari ng unrel ated pati ents w i th i denti cal CFTR mutati on genotypes, 3,4 o...
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