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Biomedical subjects

Nicola Jones

Publications and source records attributed to Nicola Jones.

7 recordsLinked to original sources

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P ≤ 1 × 10(-5). We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10(-17); including ADGC data, meta P = 5.0 × 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10(-14); including ADGC data, meta P = 1.2 × 10(-16)) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)).

ATP-Binding Cassette Transporters↗

Preoccupation, food, and failure: an investigation of cognitive performance deficits in dieters.

OBJECTIVE: This study tested two explanations of the cognitive performance deficits of dieters. First, these deficits are due to the metabolic consequences of food deprivation. Second, they are psychological in origin (i.e., preoccupation with dieting-related thoughts during dieting depletes the cognitive resources available for nondieting tasks). METHOD: Dieters and nondieters performed a battery of cognitive tasks before and after consumption of a high-energy chocolate bar. Eating the chocolate bar was expected to reverse the effects of food deprivation but, as a "diet-threatening" food, it could increase dieting-related preoccupation. RESULTS AND CONCLUSIONS: The results supported the latter prediction. Performance on a memory task was further impaired, rather than improved, after food consumption in dieters. In addition, dieters experienced a significant increase in the number of food and dieting-related thoughts. Some dieters attributed their poorer performance to distraction by these thoughts. Marked individual differences in thought content accounted for some of the variability in the effects on performance.

Adolescent↗

Outcome of pediatric live-donor liver transplantation-the Toronto experience.

BACKGROUND/PURPOSE: Live-donor liver transplantation (LDLT) has developed to address the critical shortage of cadaveric organs that accounts for 20% of children who die while awaiting for a liver transplant in Ontario each year. This report reviews the outcome of the pediatric recipients of LDLT at the authors' center. METHODS: The charts of all children who received a LDLT between June 1996 and March 2002 were reviewed retrospectively. RESULTS: Thirteen children (mean age, 3.6 years) underwent LDLT. All donors were parents except for one cousin. Ten grafts were left-lateral segments, 2 were right lobes, and 1 was a left lobe. Three patients required a SILASTIC((R)) (Dow Corning, Midland, MI) patch for delayed abdominal wall closure. Patient and graft survival rate was 100% with a median follow-up of 376 days. Major postoperative complications included biliary leaks (n = 2), biliary strictures (n = 1), portal vein thrombosis (n = 1), and hepatic venous complications (n = 1). There were no cases of hepatic artery thrombosis. Ten of 12 children became Positive for Epstein-Barr virus (EBV), and 3 of these patients had readily treatable post-transplant lymphoproliferative disorder. CONCLUSIONS: LDLT is an acceptable alternative to cadaveric transplantation for children with end-stage liver disease.

Adolescent↗

Multilocus sequence typing system for group B streptococcus.

A multilocus sequence typing (MLST) system was developed for group B streptococcus (GBS). The system was used to characterize a collection (n = 152) of globally and ecologically diverse human strains of GBS that included representatives of capsular serotypes Ia, Ib, II, III, V, VI, and VIII. Fragments (459 to 519 bp) of seven housekeeping genes were amplified by PCR for each strain and sequenced. The combination of alleles at the seven loci provided an allelic profile or sequence type (ST) for each strain. A subset of the strains were characterized by restriction digest patterning, and these results were highly congruent with those obtained with MLST. There were 29 STs, but 66% of isolates were assigned to four major STs. ST-1 and ST-19 were significantly associated with asymptomatic carriage, whereas ST-23 included both carried and invasive strains. All 44 isolates of ST-17 were serotype III clones, and this ST appeared to define a homogeneous clone that was strongly associated with neonatal invasive infections. The finding that isolates with different capsular serotypes had the same ST suggests that recombination occurs at the capsular locus. A web site for GBS MLST was set up and can be accessed at http://sagalactiae.mlst.net. The GBS MLST system offers investigators a valuable typing tool that will promote further investigation of the population biology of this organism.

Adult↗