Stephen V. Faraone

Bio: Stephen V. Faraone is an academic researcher from State University of New York Upstate Medical University. The author has contributed to research in topics: Attention deficit hyperactivity disorder & Bipolar disorder. The author has an hindex of 188, co-authored 1427 publications receiving 140298 citations. Previous affiliations of Stephen V. Faraone include University of Bergen & National Institute for Health Research.

A 4-year follow-up of attention-deficit/hyperactivity disorder in a population sample.

Abstract: Background: Prior follow-up studies of attention-deficit/hyperactivity disorder (ADHD) ascertained ADHD cases in clinical samples mostly from North America but rarely from European countries. They have provided a good deal of information about the persistence of ADHD and its impairments, but the degree to which these results generalize to population samples and to other countries is not certain. Prior studies have also not assessed predictors of new-onset ADHD in youth without ADHD. Method: At baseline, 7,912 of 18 million telephone numbers were randomly selected from throughout France from October 2, 2008, through December 11, 2008. Among 4,186 eligible families, 1,012 (24.2%) were successfully recruited at baseline, when a telephone interview was administered to all families about a child in the 6- to 12-year age range. Four years later, we attempted to recruit the entire sample to assess the persistence of ADHD and its impairments and the emergence of new associated conditions. Results: 86.5% of the families assessed at baseline were followed-up (N = 875). Participants who were and were not interviewed at follow-up did not differ on any clinical or demographic features. At follow-up, the prevalence of full or subthreshold ADHD was 65.8% for ADHD participants and 9.8% for those not having ADHD at baseline. Among the children who were not diagnosed with ADHD at baseline, 3.4% were diagnosed with ADHD at follow-up. Both the persistence of ADHD and new onsets of ADHD were significantly predicted by several baseline clinical features and by having a family history of ADHD (all P values Conclusions: We replicated prior predictors of ADHD’s persistence and provide new data about predictors of new ADHD onsets in the population. Our data about subthreshold ADHD support a dimensional conceptualization of the disorder and address the potential clinical utility of a subthreshold diagnostic category.

Is Maternal Smoking During Pregnancy a Risk Factor for Cigarette Smoking in Offspring? A Longitudinal Controlled Study of ADHD Children Grown Up

Abstract: Objective: This study examined whether exposure to maternal smoking during pregnancy in children with and without ADHD is associated with smoking in offspring and whether this association is selective to ADHD children. Method: Ninety-six exposed and 400 unexposed participants were derived from two longitudinal studies of boys and girls with and without ADHD. Maternal smoking during pregnancy was defined by interviews with participants’ mothers. Results: A significant association was observed between exposure to maternal smoking in pregnancy and cigarette smoking in offspring (p = .02). Exposed offspring were also more likely to have higher rates of major depression (p = .04), bipolar disorder (p = .04), and conduct disorder (p = .04), and lower IQ (p = .01), lower Global Assessment of Functioning (GAF) score (p = .02), and more impaired Social Adjustment Inventory for Children and Adolescents (SAICA) scores versus unexposed offspring, adjusting for social class. Conclusion: Maternal smoking during pregnan...

Association between trypotphan hydroxylase 2, performance on a continuance performance test and response to methylphenidate in ADHD participants†

Abstract: The main objective of this study was to examine neuropsychological mechanisms mediating the association between tryptophan hydroxylase 2 (TPH2) and attention deficit hyperactivity disorder (ADHD). A continuous performance test (T.O.V.A.) was administered to 344 participants diagnosed with DSM IV ADHD who were also genotyped for eight TPH2 intronic SNPs. Association between TPH2 (single SNPs and haplotypes), ADHD, and performance on the T.O.V.A. were tested using robust family-based association tests as implemented in two statistical genetic programs: UNPHASED and PBAT. Association was only observed between an eight locus haplotype and ADHD DSM IV combined type III (global P = 0.036). Robust association was observed between TPH2 single SNPs (and haplotypes) and performance on the T.O.V.A., especially Errors of Omission (eight locus haplotypes, global P = 0.038). Significant associations were also observed between TPH2 and improvement (before–after scores) in T.O.V.A. Total Response Variability scores following acute methylphenidate challenge (eight locus haplotypes, global P = 0.009). Using the MFBAT program, significant multivariate association was observed between single SNPs and haplotypes [eight locus haplotypes and all four T.O.V.A. variables (PBAT-GEE P = 0.013)]. The two most common TPH2 eight locus haplotypes were in a Yin Yang configuration and the Yang haplotype was the risk haplotype for both DSM IV ADHD and deficits in neuropsychological performance. The current investigation shows that risk for ADHD conferred by TPH2 variants is partially mediated by serotonergic mechanisms impacting some facets of executive function. Importantly, improvement in T.O.V.A. performance, especially on Response Time Variability, following methylphenidate was also associated with TPH2. © 2008 Wiley-Liss, Inc.

Evidence of Low Adherence to Stimulant Medication Among Children and Youths With ADHD: An Electronic Health Records Study.

Abstract: Objective:The objective of this study was to evaluate rates and correlates of stimulant medication adherence in a sample of pediatric patients using data derived from electronic medical records (EM...

疟原虫var基因转换速率变化导致抗原变异[英]／Paul H, Robert P, Christodoulou Z, et al//Proc Natl Acad Sci U S A

Abstract: 抗原变异可使得多种致病微生物易于逃避宿主免疫应答。表达在感染红细胞表面的恶性疟原虫红细胞表面蛋白1（PfPMP1）与感染红细胞、内皮细胞、树突状细胞以及胎盘的单个或多个受体作用，在黏附及免疫逃避中起关键的作用。每个单倍体基因组var基因家族编码约60种成员，通过启动转录不同的var基因变异体为抗原变异提供了分子基础。

Using Multivariate Statistics

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Human biochemical genetics

Abstract: So far in this course we have dealt entirely with the evolution of characters that are controlled by simple Mendelian inheritance at a single locus. There are notes on the course website about gametic disequilibrium and how allele frequencies change at two loci simultaneously, but we didn’t discuss them. In every example we’ve considered we’ve imagined that we could understand something about evolution by examining the evolution of a single gene. That’s the domain of classical population genetics. For the next few weeks we’re going to be exploring a field that’s actually older than classical population genetics, although the approach we’ll be taking to it involves the use of population genetic machinery. If you know a little about the history of evolutionary biology, you may know that after the rediscovery of Mendel’s work in 1900 there was a heated debate between the “biometricians” (e.g., Galton and Pearson) and the “Mendelians” (e.g., de Vries, Correns, Bateson, and Morgan). Biometricians asserted that the really important variation in evolution didn’t follow Mendelian rules. Height, weight, skin color, and similar traits seemed to

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Abstract: There is increasing evidence that genome-wide association ( GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We describe a joint GWA study ( using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined similar to 2,000 individuals for each of 7 major diseases and a shared set of similar to 3,000 controls. Case-control comparisons identified 24 independent association signals at P < 5 X 10(-7): 1 in bipolar disorder, 1 in coronary artery disease, 9 in Crohn's disease, 3 in rheumatoid arthritis, 7 in type 1 diabetes and 3 in type 2 diabetes. On the basis of prior findings and replication studies thus-far completed, almost all of these signals reflect genuine susceptibility effects. We observed association at many previously identified loci, and found compelling evidence that some loci confer risk for more than one of the diseases studied. Across all diseases, we identified a large number of further signals ( including 58 loci with single-point P values between 10(-5) and 5 X 10(-7)) likely to yield additional susceptibility loci. The importance of appropriately large samples was confirmed by the modest effect sizes observed at most loci identified. This study thus represents a thorough validation of the GWA approach. It has also demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; has generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in the British population is generally modest. Our findings offer new avenues for exploring the pathophysiology of these important disorders. We anticipate that our data, results and software, which will be widely available to other investigators, will provide a powerful resource for human genetics research.