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.

CBCL Clinical Scales Discriminate Prepubertal Children with Structured Interview—Derived Diagnosis of Mania from Those with ADHD

Abstract: Objective To evaluate the discriminative ability of the Child Behavior Checklist (CBCL) to identify children with structured interview-derived diagnosis of bipolar disorder. Method We evaluated the convergence of CBCL scales with the diagnosis of mania in 31 children with mania, 120 children with attention-deficit hyperactivity disorder, and 77 prepubertal normal control children aged 12 years or younger. We evaluated the strength of association between each CBCL scale and structured interview-derived diagnoses with total predictive value and the odds ratio. Results Excellent convergence was found between the CBCL scales of Delinquent Behavior, Aggressive Behavior, Somatic Complaints, Anxious/Depressed, and Thought Problems and the diagnosis of mania. Conclusions These findings indicate that the CBCL could serve as a rapid and useful screening instrument to identify manic children in clinical settings.

Gender differences in a sample of adults with attention deficit hyperactivity disorder.

Abstract: Although originally conceptualized as a childhood disorder, attention deficit hyperactivity disorder (ADHD) may also be an adult disorder. However, despite increasing media attention to adult ADHD, its validity has only recently been studied in a systematic fashion. The overrepresentation of females in adult samples in comparison to pediatric samples of ADHD raises additional questions about the validity of this disorder in adults. The goal of this article is to explore whether ADHD is a valid clinical entity in female subjects and whether it is expressed differently in male and female adults. To this end, we examined the clinical, cognitive, and functional characteristics of 128 referred adult ADHD cases of both sexes. Each subject had a clinical diagnosis of childhood-onset ADHD confirmed by structured interview. The male and female ADHD adults were similar to one another but more disturbed and impaired than non-ADHD adult control subjects. Compared with normal control females, ADHD women had higher rates of major depression, anxiety disorders, and conduct disorder; and more evidence of school failure and cognitive impairment. The consistency of these findings in both genders further supports the validity of the diagnosis of ADHD in adults. Our results stress the viability and importance of identification of female subjects with ADHD. The underidentification and undertreatment of females with ADHD may have substantial mental health and educational implications, suggesting that research is needed to develop a better understanding of clinical indicators of ADHD in females.

Developmental aspects of obsessive compulsive disorder: findings in children, adolescents, and adults.

Abstract: Although juvenile obsessive compulsive disorder (OCD) is increasingly recognized as a putative developmental subtype of the disorder, comparisons among children, adolescents, and adults with OCD have been lacking. We aimed to evaluate clinical correlates of OCD in three developmentally distinct groups. Subjects comprised children, adolescents, and adults meeting DSM-III-R and DSM-IV criteria for OCD referred to separate specialized OCD clinics. All subjects were systematically evaluated with structured diagnostic interviews and clinical assessments by OCD experts. Specific clinical correlates and symptom profiles were associated with the disorder in different age groups. These findings support a hypothesis of developmental discontinuity between juvenile and adult OCD and identify age specific correlates of the disorder across the life cycle. Further work is needed to validate whether juvenile-onset OCD represents a true developmental subtype of the disorder.

Diagnosing adult Attention Deficit Hyperactivity Disorder: Are late onset and subthreshold ciagnoses valid?

Abstract: Objective Diagnosing attention deficit hyperactivity disorder (ADHD) in adults is difficult when diagnosticians cannot establish an onset before the DSM-IV criterion of age 7 or if the number of symptoms recalled does not achieve DSM’s diagnosis threshold. Method The authors addressed the validity of DSM-IV’s age-at-onset and symptom threshold criteria by comparing four groups of adults: 127 subjects with full ADHD who met all DSM-IV criteria for childhood-onset ADHD, 79 subjects with late-onset ADHD who met all criteria except the age-at-onset criterion, 41 subjects with subthreshold ADHD who did not meet full symptom criteria for ADHD, and 123 subjects without ADHD who did not meet any criteria. The authors hypothesized that subjects with late-onset and subthreshold ADHD would show patterns of psychiatric comorbidity, functional impairment, and familial transmission similar to those seen in subjects with full ADHD. Result Subjects with late-onset and full ADHD had similar patterns of psychiatric comorbidity, functional impairment, and familial transmission. Most children with late onset of ADHD (83%) were younger than 12. Subthreshold ADHD was milder and showed a different pattern of familial transmission than the other forms of ADHD. Conclusions The data about the clinical features of probands and the pattern of transmission of ADHD among relatives found little evidence for the validity of subthreshold ADHD among such subjects, who reported a lifetime history of some symptoms that never met DSM-IV’s threshold for diagnosis. In contrast, the results suggested that late-onset adult ADHD is valid and that DSM-IV’s age-at-onset criterion is too stringent.

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.