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The neuropeptide galanin (GAL) is involved in food intake and in fat ingestion. Presumably, these effects are conveyed via the galanin 1 receptor (GALR1). We screened the coding region of GAL (including 444 bp of its promoter region) and GALR1 for mutations using single-strand conformation polymorphism analysis and denaturing HPLC in up to 191 obese children and adolescents and 106 healthy underweight young adults (students). In GAL, we identified 3 novel single nucleotide polymorphisms (SNPs; silent: g.-419T[right arrow]C, g.-244G[right arrow]A; missense: g.47C[right arrow]T: Ala16Val) and one infrequent missense variation (c.253A[right arrow]G: Asn85Asp), and in GALR1 2 novel SNPs (silent: c.150C[right arrow]T, missense: c.793A[right arrow]T: Ile265Phe). To test for an association with obesity, we genotyped 7 SNPs (GAL: g.-244G[right arrow]A, g.47C[right arrow]T, rs7101947, rs1042577, rs3136540; GALR1: c.150C[right arrow]T, c.793A[right arrow]T) in up to 322 obese children and adolescents compared with up to 277 healthy underweight and normal weight young adults. Furthermore, we analyzed these SNPs with respect to potential effects on the percentage of energy consumed as fat in obese children and adolescents. Allele and genotype frequencies did not differ among the groups tested. In addition, we performed a pedigree transmission disequilibrium test (PDT) for one SNP (GAL: g.-244G[right arrow]A) in 610 (518 independent) obesity-trios (obese child or adolescent and both of its parents). However, the PDT for SNP GAL g.-244G[right arrow]A revealed no transmission disequilibrium. We conclude that the analyzed SNPs in GAL and GALR1 do not play a major role in early onset obesity or dietary fat intake in the obese children and adolescents of our study groups. KEY WORDS: * percentage fat intake * body weight * adolescents * association

Despite growing positive evidence supporting the potential utility of differential diagnostic generator (DDX) tools, uptake has been limited in terms of geography and settings and calls have been made to test such tools in wider routine clinical settings. This study aims to evaluate the feasibility and utility of clinical use of Isabel, an electronic DDX tool, in a United Kingdom (UK) general practice setting. Mixed methods. Feasibility and utility were assessed prospectively over a 6-month period via: usage statistics, survey as well as interview data generated from clinicians before and after Isabel was available for clinical use. Normalisation process theory (NPT) was utilised as a sensitising concept in the data collection and analysis of the qualitative data. Usage was extremely limited (n = 18 searches). Most potential users did not utilise the program and of those that did (n = 6), usage was restricted and did not alter subsequent patient management. Baseline interview findings indicated some prior awareness of DDX tools and ambivalent views with regards to potential utility. Post-use interviews supported analytic data and indicated low usage due to a range of endogenous (professional) and exogenous (organisational) factors. In its current form, this small exploratory study suggests that Isabel is a tool that is unlikely to be utilised on a routine basis in primary care, but may have potential utility for diagnostic support in (1) education/training and (2) rare and diagnostically complex cases. [ABSTRACT FROM AUTHOR]