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Introduction Inherited defects in RUNX1 are important causes of platelet function disorders. Aim Our goals were to evaluate RUNX1-related platelet disorders among individuals evaluated for uncharacterized, inherited platelet function disorders and test a proof of concept that bleeding risks could be quantitatively estimated for typical families with an inherited platelet function disorder. Methods Index cases with an uncharacterized inherited platelet function disorder were subjected to exome sequencing with confirmation of RUNX1 mutations by Sanger sequencing. Laboratory findings were obtained from medical records and persistence of platelet non-muscle myosin heavy chain IIB ( MYH10), a biomarker of RUNX1 defects, was assessed by Western blotting. Bleeding histories were assessed using standardized assessment tools. Bleeding risks were estimated as odds ratios ( OR) using questionnaire data for affected individuals compared to controls. Results Among 12 index cases who had their exomes sequenced, one individual from a family with eight study participants had a c.583dup in RUNX1 that segregated with the disease and was predicted to cause a frameshift and RUNX1 haploinsufficiency. Unlike unaffected family members ( n = 2), affected family members ( n = 6) had increased bleeding scores and abnormal platelet aggregation and dense granule release responses to agonists but only some had thrombocytopenia and/or dense granule deficiency. This family's mutation was associated with persistence of MYH10 in platelets and increased risks ( OR 11-440) for wound healing problems and mild bleeding symptoms, including bleeding interfering with lifestyle in women. Conclusion Inherited platelet dysfunction due to a RUNX1 haploinsufficiency mutation significantly increases bleeding risks. [ABSTRACT FROM AUTHOR]

Candidate gene and genome-wide association studies have not identified common variants, which are reliably associated with depression. The recent identification of obesity predisposing genes that are highly expressed in the brain raises the possibility of their genetic contribution to depression. As variation in the intron 1 of the fat mass- and obesity-associated (FTO) gene contributes to polygenic obesity, we assessed the possibility that FTO gene may contribute to depression in a cross-sectional multi-ethnic sample of 6561 depression cases and 21 932 controls selected from the EpiDREAM, INTERHEART, DeCC (depression case-control study) and Cohorte Lausannoise (CoLaus) studies. Major depression was defined according to DSM IV diagnostic criteria. Association analyses were performed under the additive genetic model. A meta-analysis of the four studies showed a significant inverse association between the obesity risk FTO rs9939609 A variant and depression (odds ratio=0.92 (0.89, 0.97), P=3 × 10−4) adjusted for age, sex, ethnicity/population structure and body-mass index (BMI) with no significant between-study heterogeneity (I2=0%, P=0.63). The FTO rs9939609 A variant was also associated with increased BMI in the four studies (β 0.30 (0.08, 0.51), P=0.0064) adjusted for age, sex and ethnicity/population structure. In conclusion, we provide the first evidence that the FTO rs9939609 A variant may be associated with a lower risk of depression independently of its effect on BMI. This study highlights the potential importance of obesity predisposing genes on depression. [ABSTRACT FROM AUTHOR]

The article presents a study which determines antecedents from health information technology (HIT) innovations in public Canadian hospitals. It involves a survey of hospital chief information officers (CIOs) to determine HIT innovation and the testing of research model-derived research hypotheses. It reveals a relationship between structural, financial leadership and HIT innovativeness demonstrating the relation between HIT innovation and organizational characteristics.

Home telemonitoring is a patient-management approach that allows timely data transfer and immediate feedback. With the large number of people experiencing hypertension worldwide and the burden of this medical condition, home blood pressure (BP) telemonitoring has become popular given its potential for reducing cost and improving patient care. This study provides an overview on the current evidence and trends of hypertension telemonitoring, and presents recommendations for future studies in this area.A comprehensive literature search was conducted from 1966 to 2006 on Cochrane Library, ScienceDirect, PubMed, MEDLINE, EMBASE, CINAHL, and PsycINFO using the key words hypertension', 'blood pressure','telemonitoring', 'telecare', 'telemedicine', 'biotelemetry', 'telehealth', and 'telehomecare'. Fourteen studies involving telemonitoring experiments were found and included in this review, ten of which were conducted in Europe and the US. The studies present evidence on the positive impacts of telemonitoring on patients and their conditions (e.g. significant BP control, better medication adherence, changes in patients' lifestyle). However, the results of the studies should be considered with caution due to the limitations of study designs. Furthermore, little is known about the effects of telemonitoring on services utilization and only one study demonstrated a detailed cost-effectiveness analysis of this approach.This review presents preliminary evidence on the benefits of telemonitoring as a successful patient-management approach. However, at present, limited information exists that would substantiate its effects on the utilization of health services (e.g. office and emergency room visits, hospitalizations) and demonstrate its economic viability. Future studies should examine the effects of mediating variables and the mechanisms through which BP control is achieved. Further research should also incorporate designs that allow more control and investigate its effects over longer time periods with larger diversified samples of patients. [ABSTRACT FROM AUTHOR]

A correction to the article "The protective effect of the obesity-associated rs9939609 Avariant in fat mass- and obesity-associated gene on depression" that was published in theNovember 20, 2012 issue is presented.