The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

The original publication is available at http://www.jnrbm.com/content/10/1/12Includes bibliographyAbstract Background The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic disease associated with an improper hypertrophic response. Results The coding regions of KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 were examined, by direct DNA sequencing, in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants, four previously unknown, were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3'UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. Conclusions Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmiaPeer Reviewe

Assessment of endothelial function by brachial artery flow mediated dilatation in microvascular disease

<p>Abstract</p> <p>Background</p> <p>Cardiac syndrome X is an important therapeutic and diagnostic challenge to physician. Study of Csx patients may help to understand the pathophysiology of coronary microcirculation and to gain an insight on the management of these group patients.</p> <p>Methods</p> <p>We measured the flow mediated dilation of the brachial artery both endothelium dependent and independent vasodilatation by high resolution ultrasound in 30 cardiac syndrome X patients and matched with 30 healthy control subjects.</p> <p>Results</p> <p>Significantly decreased flow mediated dilatation was observed in patients when compared to control (9.42 ± 7.20 vs 21.11 ± 9.16 p < 0.01) but no significant difference was observed between groups in response to nitroglycerin (25.39 ± 6.82 vs 28.87 ± 8.69). Receiver operator characteristic analysis showed that value of < 11.11 had sensitivity of 80%, specificity 86.67%, positive predictive value 76.66%, negative predictive value 83.33%. In total, 46% of subjects had endothelial dysfunction and of them, CSX subjects had higher prevalence (76% vs 16% p < 0.01) than control subjects. Higher mean values of body mass index, systolic blood pressure and diastolic blood pressure was observed in subjects with FMD < 11.11 than > 11.11(p < 0.01). In logistic regression analysis, FMD was significantly associated with systolic blood pressure (Odds ratio 1.122 95% CI 1.053-1.196 p < 0.01) and body mass index (Odds 1.248 95%CI 0.995-1.56 p < 0.05).</p> <p>Conclusions</p> <p>The study suggests impairment of endothelial function in cardiac syndrome X patients. Increased Systolic blood pressure and body mass index may increase the risk of impairment of endothelial function in this group of patients.</p

Subliminally Perceived Odours Modulate Female Intrasexual Competition: An Eye Movement Study

Background: Evidence suggests that subliminal odorants influence human perception and behavior. It has been hypothesized that the human sex-steroid derived compound 4,16-androstadien-3-one (androstadienone) functions as a human chemosignal. The most intensively studied steroid compound, androstadienone is known to be biologically relevant since it seems to convey information about male mate quality to women. It is unclear if the effects of androstadienone are menstrual cycle related. Methodology/Principal Findings: In the first experiment, heterosexual women were exposed to androstadienone or a control compound and asked to view stimuli such as female faces, male faces and familiar objects while their eye movements were recorded. In the second experiment the same women were asked to rate the level of stimuli attractiveness following exposure to the study or control compound. The results indicated that women at high conception risk spent more time viewing the female than the male faces regardless of the compound administered. Women at a low conception risk exhibited a preference for female faces only following exposure to androstadienone. Conclusions/Significance: We contend that a woman’s level of fertility influences her evaluation of potential competitors (e.g., faces of other women) during times critical for reproduction. Subliminally perceived odorants, such as androstadienone, might similarly enhance intrasexual competition strategies in women during fertility phases not critica

School mental health services: signpost for out-of-school service utilization in adolescents with mental disorders? : a nationally representative United States cohort

Background: School mental health services are important contact points for children and adolescents with mental disorders, but their ability to provide comprehensive treatment is limited. The main objective was to estimate in mentally disordered adolescents of a nationally representative United States cohort the role of school mental health services as guide to mental health care in different out-of-school service sectors. Methods: Analyses are based on weighted data (N = 6483) from the United States National Comorbidity Survey Replication Adolescent Supplement (participants' age: 13–18 years). Lifetime DSM-IV mental disorders were assessed using the fully structured WHO CIDI interview, complemented by parent report. Adolescents and parents provided information on mental health service use across multiple sectors, based on the Service Assessment for Children and Adolescents. Results: School mental health service use predicted subsequent out-of-school service utilization for mental disorders i) in the medical specialty sector, in adolescents with affective (hazard ratio (HR) = 3.01, confidence interval (CI) = 1.77–5.12), anxiety (HR = 3.87, CI = 1.97–7.64), behavior (HR = 2.49, CI = 1.62–3.82), substance use (HR = 4.12, CI = 1.87–9.04), and eating (HR = 10.72, CI = 2.31–49.70) disorders, and any mental disorder (HR = 2.97, CI = 1.94–4.54), and ii) in other service sectors, in adolescents with anxiety (HR = 3.15, CI = 2.17–4.56), behavior (HR = 1.99, CI = 1.29–3.06), and substance use (HR = 2.48, CI = 1.57–3.94) disorders, and any mental disorder (HR = 2.33, CI = 1.54–3.53), but iii) not in the mental health specialty sector. Conclusions: Our findings indicate that in the United States, school mental health services may serve as guide to out-of-school service utilization for mental disorders especially in the medical specialty sector across various mental disorders, thereby highlighting the relevance of school mental health services in the trajectory of mental care. In light of the missing link between school mental health services and mental health specialty services, the promotion of a stronger collaboration between these sectors should be considered regarding the potential to improve and guarantee adequate mental care at early life stages