Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.

Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive biological processes linked to cognitive ability. We performed a genome-wide association study (GWAS) in 258,292 individuals, which identified-for the first time-a duplication at 2q12.

Intrauterine growth and the tangential expansion of the human cerebral cortex in times of food scarcity and abundance.

Tangential growth of the human cerebral cortex is driven by cell proliferation during the first and second trimester of pregnancy. Fetal growth peaks in mid-gestation. Here, we explore how genes associated with fetal growth relate to cortical growth.

The genetics of a "femaleness/maleness" score in cardiometabolic traits in the UK biobank.

We recently devised continuous "sex-scores" that sum up multiple quantitative traits, weighted by their respective sex-difference effect sizes, as an approach to estimating polyphenotypic "maleness/femaleness" within each binary sex. To identify the genetic architecture underlying these sex-scores, we conducted sex-specific genome-wide association studies (GWASs) in the UK Biobank cohort (females: n = 161,906; males: n = 141,980). As a control, we also conducted GWASs of sex-specific "sum-scores", simply aggregating the same traits, without weighting by sex differences.

A Comparison of Primary Maxillary Incisor Zirconia and Composite Resin Strip Crowns: A One-year Feasibility Study.

Purpose: The purpose of this study was to compare one-year clinical outcomes of primary incisor strip crowns (SCs) and zirconia crowns (ZCs) and determine the frequency of pulp therapy associated with each technique.

Methods: Children aged 18 to 48 months were randomly assigned to a ZC group or SC group. Each incisor was rated as intact (I), damaged (D), or requiring treatment (TR) six and 12 months following placement.

A Shifting Relationship Between Sex Hormone-Binding Globulin and Total Testosterone Across Puberty in Boys.

Context: Sex hormone-binding globulin (SHBG) is associated with levels of total testosterone (total-T), and both total-T and SHBG are associated with obesity.

Objective: We aimed to clarify the nature of the relationship between testosterone and SHBG and improve our understanding of their relationships with obesity. We hypothesize that the hypothalamic-pituitary-gonadal axis contributes to the homeostasis of testosterone by increasing the production of gonadal testosterone through a feedback mechanism that might operate differently at different pubertal stages.

Drinking Water Quality and Public Health in the Kathmandu Valley, Nepal: Coliform Bacteria, Chemical Contaminants, and Health Status of Consumers.

Residents of Nepal's Kathmandu Valley draw drinking water from tube wells, dug wells, and stone spouts, all of which have been reported to have serious water quality issues. In this study, we analyzed drinking water samples from 35 tube wells, dug wells, stone spouts, and municipal tap water for bacterial and chemical contaminants, including total and fecal coliform, aluminum, arsenic, barium, beryllium, boron, cadmium, cobalt, chromium, copper, fluoride, iron, mercury, manganese, molybdenum, nickel, lead, antimony, selenium, thallium, uranium, vanadium, and zinc. We also asked a sampling of households who used these specific water sources to rate the taste of their water, list any waterborne diseases they were aware of, and share basic health information about household members.

The genetics of testosterone contributes to "femaleness/maleness" of cardiometabolic traits and type 2 diabetes.

The genetic architecture of testosterone is highly distinct between sexes. Moreover, obesity is associated with higher testosterone in females but lower testosterone in males. Here, we ask whether male-specific testosterone variants are associated with a male pattern of obesity and type 2 diabetes (T2D) in females, and vice versa.

An international clinical study of ability and disability in ADHD using the WHO-ICF framework.

This is the fourth and final study designed to develop International Classification of Functioning, Disability and Health (ICF, and children and youth version, ICF-CY) core sets for attention-deficit hyperactivity disorder (ADHD). To investigate aspects of functioning and environment of individuals with ADHD as documented by the ICF-CY in clinical practice settings. An international cross-sectional multi-centre study was applied, involving nine units from eight countries: Denmark, Germany, India, Italy, Portugal, Saudi Arabia, Sweden and Taiwan.

Delivery of Epinephrine in the Vapor Phase for the Treatment of Croup.

Objectives: The Vapotherm system delivers high humidity to the airway of patients by using semipermeable tubules where heated liquid water is in contact with air. The humidified air is conducted to the patient via a heated tube. Preliminary clinical observations in infants with croup suggested that epinephrine added to the water supplying the humidity was delivered successfully in the vapor phase.

Urgent need to reevaluate the latest World Health Organization guidelines for toxic inorganic substances in drinking water.

The World Health Organization (WHO) has established guidelines for drinking-water quality that cover biological and chemical hazards from both natural and anthropogenic sources. In the most recent edition of Guidelines for Drinking-water Quality (2011), the WHO withdrew, suspended, did not establish, or raised guidelines for the inorganic toxic substances manganese, molybdenum, nitrite, aluminum, boron, nickel, uranium, mercury, and selenium. In this paper, we review these changes to the WHO drinking-water guidelines, examining in detail the material presented in the WHO background documents for each of these toxic substances.

Longitudinal relations among inattention, working memory, and academic achievement: testing mediation and the moderating role of gender.

Introduction. Behavioral inattention, working memory (WM), and academic achievement share significant variance, but the direction of relationships across development is unknown. The aim of the present study was to determine whether WM mediates the pathway between inattentive behaviour and subsequent academic outcomes.

Multiple inorganic toxic substances contaminating the groundwater of Myingyan Township, Myanmar: arsenic, manganese, fluoride, iron, and uranium.

In South Asia, the technological and societal shift from drinking surface water to groundwater has resulted in a great reduction of acute diseases due to water borne pathogens. However, arsenic and other naturally occurring inorganic toxic substances present in groundwater in the region have been linked to a variety of chronic diseases, including cancers, heart disease, and neurological problems. Due to the highly specific symptoms of chronic arsenic poisoning, arsenic was the first inorganic toxic substance to be noticed at unsafe levels in the groundwater of West Bengal, India and Bangladesh.

Attention-deficit/hyperactivity disorder.

Attention-deficit/hyperactivity disorder (ADHD) is a persistent neurodevelopmental disorder that affects 5% of children and adolescents and 2.5% of adults worldwide. Throughout an individual's lifetime, ADHD can increase the risk of other psychiatric disorders, educational and occupational failure, accidents, criminality, social disability and addictions.

Molecular findings in Beckwith-Wiedemann syndrome.

Our understanding of Beckwith-Wiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These advances have further delineated intricate (epi)genetic regulation of the imprinted gene cluster on chromosome 11p15.5 and the role of these genes in normal growth and development.

Use of gloves and reduction of risk of injury caused by needles or sharp medical devices in healthcare workers: results from a case-crossover study.

Objective: Standard precautions are advocated for reducing the number of injuries caused by needles and sharp medical devices ("sharps injuries"), but the effectiveness of gloves in preventing such injuries has not been established. We evaluated factors associated with gloving practices and identified associations between gloving practices and sharps-injury risk.

Design: Usual-frequency case-crossover study.

The cost-effectiveness of directly observed highly-active antiretroviral therapy in the third trimester in HIV-infected pregnant women.

Background: In HIV-infected pregnant women, viral suppression prevents mother-to-child HIV transmission. Directly observed highly-active antiretroviral therapy (HAART) enhances virological suppression, and could prevent transmission. Our objective was to project the effectiveness and cost-effectiveness of directly observed administration of antiretroviral drugs in pregnancy.

Why "winter" vomiting disease? Seasonality, hydrology, and Norovirus epidemiology in Toronto, Canada.

Norovirus is a common cause of gastroenteritis, and is thought to be the causative agent in 68-90% of all gastroenteritis outbreaks. The seasonality of disease occurrence is sufficiently stereotyped to result in this disease being dubbed "winter vomiting disease." The genesis of this seasonality has been obscure.

Derivation and validation of a clinical prediction rule for nosocomial pneumonia after coronary artery bypass graft surgery.

Background: Nosocomial pneumonia is an important cause of morbidity and mortality among surgical patients in the United States. The emergence of effective but potentially costly or risky preventive interventions makes perioperative risk stratification desirable. We sought to develop a prediction rule for pneumonia after coronary artery bypass grafting (CABG), a common surgical procedure.

Let the sun shine in: effects of ultraviolet radiation on invasive pneumococcal disease risk in Philadelphia, Pennsylvania.

Background: Streptococcus pneumoniae is a common cause of community acquired pneumonia and bacteremia. Excess wintertime mortality related to pneumonia has been noted for over a century, but the seasonality of invasive pneumococcal disease (IPD) has been described relatively recently and is poorly understood. Improved understanding of environmental influence on disease seasonality has taken on new urgency due to global climate change.

Estimated epidemiologic parameters and morbidity associated with pandemic H1N1 influenza.

Background: In the face of an influenza pandemic, accurate estimates of epidemiologic parameters are required to help guide decision-making. We sought to estimate epidemiologic parameters for pandemic H1N1 influenza using data from initial reports of laboratory-confirmed cases.

Methods: We obtained data on laboratory-confirmed cases of pandemic H1N1 influenza reported in the province of Ontario, Canada, with dates of symptom onset between Apr.

Modelling mitigation strategies for pandemic (H1N1) 2009.

Background: The 2009 influenza A (H1N1) pandemic has required decision-makers to act in the face of substantial uncertainties. Simulation models can be used to project the effectiveness of mitigation strategies, but the choice of the best scenario may change depending on model assumptions and uncertainties.

Methods: We developed a simulation model of a pandemic (H1N1) 2009 outbreak in a structured population using demographic data from a medium-sized city in Ontario and epidemiologic influenza pandemic data.

Keeping vulnerable children safe from pertussis: preventing nosocomial pertussis transmission in the neonatal intensive care unit.

Objective: To examine the impact of different acellular pertussis booster vaccination strategies on the probability of a nosocomial pertussis outbreak occurring and the distribution of outbreak sizes observed for each intervention strategy.

Setting: Neonatal intensive care unit.

Methods: We developed a stochastic, agent-based simulation model to examine the impact of booster vaccination strategies for pertussis on health care-related transmission.