Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing.

Background: Large-scale human sequencing projects have described around a hundred-million single nucleotide variants (SNVs). These studies have predominately involved individuals with European ancestry despite the fact that genetic diversity is expected to be highest in Africa where Homo sapiens evolved and has maintained a large population for the longest time. The African Genome Variation Project examined several African populations but these were all located south of the Sahara.

Mass spectrometry imaging of endogenous metabolites in response to doxorubicin in a novel 3D osteosarcoma cell culture model.

Three-dimensional (3D) cell culture is a rapidly emerging field, which mimics some of the physiological conditions of human tissues. In cancer biology, it is considered a useful tool in predicting in vivo chemotherapy responses, compared with conventional two-dimensional (2D) cell culture. We have developed a novel 3D cell culture model of osteosarcoma composed of aggregated proliferative tumour spheroids, which shows regions of tumour heterogeneity formed by aggregated spheroids of polyclonal tumour cells.

Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine HIV pre-exposure prophylaxis: clinical guidelines. Update April 2018.

Daily use of coformulated tenofovir and emtricitabine for HIV pre-exposure prophylaxis (PrEP) by populations at high risk of HIV infection is now recommended in guidelines from the United States, Europe and Australia and globally through the 2015 WHO guidelines. These 2017 Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine's (ASHM) PrEP Guidelines are an updated adaptation of the 2014 US Centers for Disease Control's PrEP guidelines and are designed to: •Support the prescription of PrEP using forms of coformulated tenofovir and emtricitabine that have been registered in Australia by the Therapeutic Goods Administration and other bioequivalent generic drugs that are available in Australia through self-importation, private prescription or Australian PrEP clinical trials•Assist clinicians in the evaluation of patients who are seeking PrEP•Assist clinicians in commencing and monitoring patients on PrEP including PrEP dosing schedules, management of side-effects and toxicity, use of PrEP in pregnancy and in chronic hepatitis B infection and how to cease PrEP Daily PrEP with co-formulated tenofovir and emtricitabine, used continuously or for shorter periods of time, is recommended in these guidelines as a key HIV-prevention option for men who have sex with men (MSM), transgender men and women, heterosexual men and women, and people who inject drugs (PWID) at substantial risk of HIV acquisition. These guidelines were updated in April 2018 and include changes to the recommendations regarding the choice of daily or on-demand PrEP.

Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine HIV pre-exposure prophylaxis: clinical guidelines. Update April 2018.

Daily use of coformulated tenofovir and emtricitabine for HIV pre-exposure prophylaxis (PrEP) by populations at high risk of HIV infection is now recommended in guidelines from the United States, Europe and Australia and globally through the 2015 WHO guidelines. These 2017 Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine's (ASHM) PrEP Guidelines are an updated adaptation of the 2014 US Centers for Disease Control's PrEP guidelines and are designed to: •Support the prescription of PrEP using forms of coformulated tenofovir and emtricitabine that have been registered in Australia by the Therapeutic Goods Administration and other bioequivalent generic drugs that are available in Australia through self-importation, private prescription or Australian PrEP clinical trials•Assist clinicians in the evaluation of patients who are seeking PrEP•Assist clinicians in commencing and monitoring patients on PrEP including PrEP dosing schedules, management of side-effects and toxicity, use of PrEP in pregnancy and in chronic hepatitis B infection and how to cease PrEP Daily PrEP with co-formulated tenofovir and emtricitabine, used continuously or for shorter periods of time, is recommended in these guidelines as a key HIV-prevention option for men who have sex with men (MSM), transgender men and women, heterosexual men and women, and people who inject drugs (PWID) at substantial risk of HIV acquisition. These guidelines were updated in April 2018 and include changes to the recommendations regarding the choice of daily or on-demand PrEP.

Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine HIV pre-exposure prophylaxis: clinical guidelines.

Daily use of coformulated tenofovir and emtricitabine for HIV pre-exposure prophylaxis (PrEP) by populations at high risk of HIV infection is now recommended in guidelines from the United States, Europe and Australia and globally through the 2015 WHO guidelines. These 2017 Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine's (ASHM) PrEP Guidelines are an updated adaptation of the 2014 US Centers for Disease Control's PrEP guidelines and are designed to: •Support the prescription of PrEP using forms of coformulated tenofovir and emtricitabine that have been registered in Australia by the Therapeutic Goods Administration and other bioequivalent generic drugs that are available in Australia through self-importation, private prescription or Australian PrEP clinical trials•Assist clinicians in the evaluation of patients who are seeking PrEP•Assist clinicians in commencing and monitoring patients on PrEP including PrEP dosing schedules, management of side-effects and toxicity, use of PrEP in pregnancy and in chronic hepatitis B infection and how to cease PrEP Daily PrEP with co-formulated tenofovir and emtricitabine, used continuously or for shorter periods of time, is recommended in these guidelines as a key HIV-prevention option for men who have sex with men (MSM), transgender men and women, heterosexual men and women, and people who inject drugs (PWID) at substantial risk of HIV acquisition.

Research priorities to achieve universal access to hepatitis C prevention, management and direct-acting antiviral treatment among people who inject drugs.

Globally, it is estimated that 71.1 million people have chronic hepatitis C virus (HCV) infection, including an estimated 7.5 million people who have recently injected drugs (PWID).

Simple Strategies for Surviving the Night Shift.

Without a doubt, working nights is stressful and can wreak havoc on your physical, mental, and emotional health. It is like fitting a square peg into a round hole; you are living on a schedule opposite from most of the world. Your internal rhythms are disrupted socially and biologically when you work nights.

Consequences of Epistasis on Growth in an Erhualian × White Duroc Pig Cross.

Epistasis describes an interaction between the effects of loci. We included epistasis in quantitative trait locus (QTL) mapping of growth at a series of ages in a cross of a Chinese pig breed, Erhualian, with a commercial line, White Duroc. Erhualian pigs have much lower growth rates than White Duroc.

Sexual transmission of HIV and the law: an Australian medical consensus statement.

Criminal cases involving human immunodeficiency virus transmission or exposure require that courts correctly comprehend the rapidly evolving science of HIV transmission and the impact of an HIV diagnosis. This consensus statement, written by leading HIV clinicians and scientists, provides current scientific evidence to facilitate just outcomes in Australian criminal cases involving HIV.Main recommendations: Caution should be exercised when considering charges or prosecutions regarding HIV transmission or exposure because:Scientific evidence shows that the risk of HIV transmission during sex between partners of different HIV serostatus can be low, negligible or too low to quantify, even when the HIV-positive partner is not taking effective antiretroviral therapy, depending on the nature of the sexual act, the viral load of the partner with HIV, and whether a condom or pre-exposure prophylaxis is employed to reduce risk.

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

Background: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit.

Report: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence).

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls and 1,077 trios, we identified a genome-wide significant association between rare loss-of-function (LoF) variants in SETD1A and risk for schizophrenia (P = 3.3 × 10(-9)). We found only two heterozygous LoF variants in 45,376 exomes from individuals without a neuropsychiatric diagnosis, indicating that SETD1A is substantially depleted of LoF variants in the general population.

HealthMap: a cluster randomised trial of interactive health plans and self-management support to prevent coronary heart disease in people with HIV.

Background: The leading causes of morbidity and mortality for people in high-income countries living with HIV are now non-AIDS malignancies, cardiovascular disease and other non-communicable diseases associated with ageing. This protocol describes the trial of HealthMap, a model of care for people with HIV (PWHIV) that includes use of an interactive shared health record and self-management support. The aims of the HealthMap trial are to evaluate engagement of PWHIV and healthcare providers with the model, and its effectiveness for reducing coronary heart disease risk, enhancing self-management, and improving mental health and quality of life of PWHIV.

The UK10K project identifies rare variants in health and disease.

The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests.

Evolving views and practices of antiretroviral treatment prescribers in Australia.

Objective: To examine whether there have been recent changes in Australian antiretroviral treatment (ART) prescribers' perceptions and practices relating to early ART initiation, which was defined as commencing ART when a patient's CD4+ T-cell count approaches 500 cells/mm3 or immediately after a patient is diagnosed with HIV.

Design, Participants And Setting: Self-completed, anonymous, cross-sectional surveys, targeting all ART prescribers in Australia, were conducted online in 2012 and 2013. The surveys included questions on prescriber factors, CD4+ T-cell count at which prescribers would most strongly recommend ART initiation, and perceived patient characteristics that could change prescribers' practices of early initiation of ART.

Estimates of genetic variance and variance of predicted genetic merits using pedigree or genomic relationship matrices in six Brown Swiss cattle populations for different traits.

The amount of variance captured in genetic estimations may depend on whether a pedigree-based or genomic relationship matrix is used. The purpose of this study was to investigate the genetic variance as well as the variance of predicted genetic merits (PGM) using pedigree-based or genomic relationship matrices in Brown Swiss cattle. We examined a range of traits in six populations amounting to 173 population-trait combinations.

Mobilisation, politics, investment and constant adaptation: lessons from the Australian health-promotion response to HIV.

Issue Addressed: The Australian response to HIV oversaw one of the most rapid and sustained changes in community behaviour in Australia's health-promotion history. The combined action of communities of gay men, sex workers, people who inject drugs, people living with HIV and clinicians working in partnership with government, public health and research has been recognised for many years as highly successful in minimising the HIV epidemic.

Methods: This article will show how the Australian HIV partnership response moved from a crisis response to a constant and continuously adapting response, with challenges in sustaining the partnership.

Challenges of providing HIV care in general practice.

As the management of HIV changes and demand for HIV health services in primary care settings increases, new approaches to engaging the general practice workforce with HIV medicine are required. This paper reports on qualitative research conducted with 47 clinicians who provide HIV care in general practice settings around Australia, including accredited HIV s100 prescribers as well as other GPs and general practice nurses. Balanced numbers of men and women took part; less than one-quarter were based outside of urban metropolitan settings.

HIV service capacity: identifying current and future areas of clinical shortage.

Unlabelled: Background The capacity of HIV services to meet the clinical needs of people living with HIV (PLHIV) has not been evaluated. Similarly, whether HIV services are positioned to respond to increases in patient demand outside metropolitan centres over the next decade is unknown.

Methods: A novel statistical methodology was used to estimate HIV clinical service capacity in Australia.

MAPfastR: quantitative trait loci mapping in outbred line crosses.

MAPfastR is a software package developed to analyze quantitative trait loci data from inbred and outbred line-crosses. The package includes a number of modules for fast and accurate quantitative trait loci analyses. It has been developed in the R language for fast and comprehensive analyses of large datasets.

Identification of null alleles and deletions from SNP genotypes for an intercross between domestic and wild chickens.

We analyzed genotypes from ~10K single-nucleotide polymorphisms (SNPs) in two families of an F2 intercross between Red Junglefowl and White Leghorn chickens. Possible null alleles were found by patterns of incompatible and missing genotypes. We estimated that 2.

Australian prescribers' perspectives on ART initiation in the era of "treatment as prevention".

This study explores Australian prescribers' attitudes towards Treatment as Prevention (TasP) and their practices around initiating combination antiretroviral treatment (cART) for HIV. A brief online survey was conducted nationally amongst antiretroviral treatment (ART) prescribers in Australia. The sample broadly represented ART prescribers in Australia (N = 108), with 40.

Demand for HIV clinical services is increasing in Australia but supply is decreasing.

Background: HIV clinical service planning requires accurate estimates of the number of people living with HIV (PLHIV) and the capacity of existing clinical services, each by geographical location. The aim of this study was to quantify current HIV clinical service capacity in Australia.

Methods: This study was a retrospective analysis of records of HIV clinical service capacity in Australia.