Genetics of Deafness

201256284

Gene × environment interactions for ADHD: synergistic effect of 5HTTLPR genotype and youth appraisals of inter-parental conflict

<p>Abstract</p> <p>Background</p> <p>Serotonin genes have been hypothesized to play a role in the etiology of attention-deficit hyperactivity disorder (ADHD); prior work suggests that serotonin may interact with psychosocial stressors in ADHD, perhaps via mechanisms involved in emotional dysregulation. Because the development of behavioral and emotional regulation depends heavily both on the child's experience within the family context and the child's construals of that experience, children's appraisals of inter-parental conflict are a compelling candidate potentiator of the effects of variation within the serotonin transporter gene promoter polymorphism (5HTTLPR) on liability for ADHD.</p> <p>Method</p> <p>304 youth from the local community underwent a multi-informant diagnostic assessment procedure to identify ADHD cases and non-ADHD controls. Youth also completed the Children's Perception of Inter-Parental Conflict (CPIC) scale to assess appraisals of self-blame in relation to their parents' marital disputes. The trialleic configuration of 5HTTLPR (long/short polymorphism with A> G substitution) was genotyped and participants were assigned as having high (La/La N = 78), intermediate (La/Lg, La/short, N = 137), or low (Lg/Lg, Lg/short, short/short, N = 89) serotonin transporter activity genotypes. Teacher reported behavior problems were examined as the target outcome to avoid informant overlap for moderator and outcome measures.</p> <p>Results</p> <p>Hierarchical linear regression analyses indicated significant 5HTTLPR × self-blame interactions for ADHD symptoms. Examination of the interactions indicated positive relations between reports of self-blame and ADHD symptoms for those with the high and low serotonin activity genotypes. There was no relation between self-blame and ADHD for those with intermediate activity 5HTTLPR genotypes.</p> <p>Conclusion</p> <p>Both high and low serotonergic activity may exert risk for ADHD when coupled with psychosocial distress such as children's self-blame in relation to inter-parental conflict. Results are discussed in relation to the role of serotonin in the etiology of the ADHD and related externalizing behaviors.</p

Angiotensinogen Promoter Polymorphisms Predict Low Diffusing Capacity in U.S. and Spanish IPF Cohorts

Single nucleotide polymorphisms (SNPs) in angiotensinogen (AGT) at positions -20 and -6 are associated with increased severity and progression of various fibrotic diseases. Our earlier work demonstrated that the progression of idiopathic pulmonary fibrosis (IPF) was associated with the A-6 allele. This study examined the hypothesis that the homozygous CC genotype at -20 and the AA genotype at -6 would confer worse measures of pulmonary function (measured by pulmonary function tests) in IPF. Multiple logistic regression analysis was applied to a NIH Lung Tissue Research Consortium cohort and a Spanish cohort, while also adjusting for covariates to determine the effects of these SNPs on measures of pulmonary function. Analysis demonstrated that the CC genotype at -20 was strongly associated with reduced diffusing capacity in males in both cohorts (p = 0.0028 for LTRC and p = 0.017 for the Spanish cohort). In females, the AA genotype was significantly associated with lower FVC (p = 0.0082) and V (alv) (p = 0.022). In males, the haplotype CA at -20 and -6 in AGT was also strongly associated with reduced diffusing capacity in both cohorts. This study is the first to demonstrate an association of AGT polymorphisms (-20A > C and -6G > A) with lower measures of pulmonary function in IPF. It is also the first to relate the effect of gender in lung fibrosis with polymorphisms in AGT

Do Physicians Underrecognize Obesity?

Objectives: A physician&apos;s advice is among the strongest predictors of efforts toward weight management made by obese patients, yet only a minority receives such advice. One contributor could be the physician&apos;s failure to recognize true obesity. The objectives of this study were to assess physicians&apos; ability to recognize obesity and to identify factors associated with recognition and documentation of obesity. Methods: Internal medicine residents and attending physicians at three academic urban primary care clinics and their adult patients participated in a study using recognition and documentation of patient obesity as the main measures. Results: A total of 52 physicians completed weight assessments for 400 patients. The mean patient age was 51 years, 56% were women, 77% were Hispanic, and 67% had one or more obesity-related comorbidity. There were 192 (48%) patients, of whom 66% were correctly identified by physicians as being obese, 86% of those with a body mass index (BMI) Q35, but only 49% of those with a BMI of 30 to 34.9 (P G 0.0001). Fewer obese Hispanic patients were identified than were non-Hispanic patients (62% vs 76%; P = 0.03). No physician characteristics were significantly associated with recognition of obesity. Physicians documented obesity as a problem for 51% of patients. Attending physicians documented obesity more frequently than did residents (64% vs 43%, odds ratio 2.5, 95% confidence interval 1.3Y4.6) and normal-weight physicians documented obesity more frequently than overweight physicians (58% vs 41%, odds ratio 2.0, 95% confidence interval 1.0Y4.0). Documentation was more common for patients with a BMI Q35 and for non-Hispanics. Documentation was not more common for patients with obesity-related comorbidities. Conclusions: Physicians have difficulty recognizing obesity unless patients&apos; BMI is Q35. Training physicians to recognize true obesity may increase rates of documentation, a first step toward treatment

School-based mental health promotion in children and adolescents with StresSOS using online or face-to-face interventions: study protocol for a randomized controlled trial within the ProHEAD Consortium

Abstract Background Schools are an ideal setting in which to promote health. However, empirical data on the effectiveness of school-based mental health promotion programs are rare, and research on universal Internet-based prevention in schools is almost non-existent. Following the life skills approach, stress management training is an important component of health promotion. Mental health literacy is also associated with mental health status, and it facilitates formal help-seeking by children and adolescents (C&amp;A). The main objectives of this study are (1) the development and evaluation of an Internet-based version of a universal school-based health promotion program called StresSOS and (2) demonstrating non-inferiority of the online setting compared to the face-to-face setting. StresSOS aims to improve stress management and mental health literacy in C&amp;A. Methods/design A school-based sample of 15,000 C&amp;A (grades 6–13 and older than 12 years) will be recruited in five regions of Germany within the ProHEAD Consortium. Those with a screening result at baseline indicating no mental health problems will be invited to participate in a randomized controlled trial comparing StresSOS online to an active online control condition (Study A). In addition, 420 adolescents recruited as a separate school-based sample will participate in the StresSOS face-to-face intervention. Participants in both intervention groups (online or face-to-face) will receive the same eight treatment modules to allow for the comparison of both methods of delivery (Study B). The primary outcome is the number of C&amp;A with symptoms of mental health problems at a 12 months follow-up. Secondary outcomes are related to stress/coping (i.e., knowledge, symptoms of stress, coping resources), mental health literacy (knowledge and attitudes toward mental disorders and help-seeking), program usage patterns, cost-effectiveness, and acceptability of the intervention. Discussion This study represents the first adequately powered non-inferiority trial in the area of school-based mental health promotion. If online StresSOS proves efficacious and non-inferior to face-to-face delivery, this offers great potential for health promotion in youths, both in and outside the school environment. Trial registration German Clinical Trials Register, DRKS00014693 . Registered on 14 May 2018

Regelung und Mechanik eines elektropeumatisch betriebenem Drei-Finger-Greifers

Zusammenfassung: Diese Studienarbeit enthält die Entwicklung eines elektropneumatisch betriebenen Drei-Finger-Greifers für zerbrechliche und/oder deformierbare Objekte mit Greifkraftregelung. Als Grundlage diente eine existierende Konstruktion, die die translatorische Bewegung eines flexiblen metallischen Balges unter Druckeinwirkung nutzt, um die Finger eines Greifers zu öffnen oder zu schließen. Zunächst wurde eine Schaltung realisiert, die das Bindeglied zwischen dem Greifer (Sensoren und Magnetventile) und einer Mikroprozessor-bestückten Platine darstellt. Sie verarbeitet die Signale aller Sensoren (Druck, Position, Kraft, Näherung) und moduliert die vom Mikroprozessor errechnete digitale Information für die Öffnungs- bzw. Schließzeiten zweier Magnetventile (Druckzufuhr und Ausgang). Der Druck in der Kammer (außerhalb des Balges), also auch das Maß der translatorischen Bewegung des Balges hängt vom Verhältnis dieser Zeiten ab. Desweiteren wurde die Mechanik eines Greifers entwickelt,die sich im Vergleich zur Vorgängerarbeit durch wesentlich geringere Ausmaße (bei allerdings auch kleinerer maximaler Greifkraft und maximaler Objektgröße) sowie drei statt zwei Fingern auszeichnet. Die Konstruktion ist in der Lage, Objekte der Größe 5 - 50mm mit einer maximalen Greifkraft von 58.8N zu greifen

Biologische Analogien für die Umgebungserfassung

Zusammenfassung: Diese Diplomarbeit beschäftigt sich mit der Umgebungserfassung bei fahrerlosen Transportsystemen (FTS) und sucht dazu - zurückgreifend auf Methoden der Bionik - Analogien in der Natur. Sie enthält eine umfassende Recherche mit der Fragestellung, mit welchen Sinnen in der Tierwelt die Umgebung erfaßt wird, wie sich Lebewesen orientieren, Hindernisse vermeiden und/oder Beutetiere erjagen. Diejenigen Sinnesarten, die einer näheren Betrachtung wert erschienen, wurden bezüglich ihrer Leistungsfähigkeit in der Natur und ihrer Anwendbarkeit bei FTS verglichen. Da sich die aktive akustische Echoortung mit Ultraschall - z.B. zu beobachten bei Fledermäusen und Delphinen - als ein System erwiesen hat, das für die Anwendung bei FTS den größten Erfolg verspricht, konzentrieren sich meine Forschungen auf dieses Gebiet. Der Schwerpunkt liegt aufgrund der hier gewünschten Anwendung im Medium Luft bei den Fledermäusen. Die Merkmale ihrer Ortungsrufe und ihres Hörsystems waren Grundlage für die Umsetzung in ein theoretisches Konzept für ein technisches Echoortungssystem mit Ultraschall, das bei FTS eingesetzt werden kann. Es umfaßt Vorschläge für die optimale Struktur der Ortungssignale (Frequenzband, Modulation etc.) und für ein Schallempfangssystem, mit dem aus dem Echo auf die Hindernisparameter Entfernung, Richtung, Größe und Geschwindigkeit geschlossen werden kann