Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).

Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal accumulation of free sialic acid and other acid hexoses. The clinical spectrum of FSASD ranges from mild (Salla disease) to severe infantile forms.

Sampling and Laboratory Logistics: How to Collect DNA Samples and Overview of Techniques for Laboratory Analysis.

This article discusses different options and best practices for sample types and sample collection devices for downstream genotyping in today's sophisticated animal husbandry systems. Best practices for sample collection, shipping, and submission of samples are shown and an overview of techniques for laboratory analysis is provided. The ultimate goal is to facilitate the generation of useful and meaningful results for the client.

Strains on the human femur after revision total knee arthroplasty: An in vitro study using digital image correlation.

Pain at the tip of the stem of a knee prosthesis (End-of-Stem Pain) is a common problem in revision total knee arthroplasty (TKA). It may be caused by a problematic interaction between stem and bone, but the exact biomechanical correlate is still unknown. On top of this, there is no biomechanical study investigating End-of-Stem Pain at the distal femur using human specimens.

Joint developmental trajectories of internalizing and externalizing problems from mid-childhood to late adolescence and childhood risk factors: Findings from a prospective pre-birth cohort.

There is limited evidence on heterogenous co-developmental trajectories of internalizing (INT) and externalizing (EXT) problems from childhood to adolescence and predictors of these joint trajectories. We utilized longitudinal data from Raine Study participants ( = 2393) to identify these joint trajectories from 5 to 17 years using parallel-process latent class growth analysis and analyze childhood individual and family risk factors predicting these joint trajectories using multinomial logistic regression. Five trajectory classes were identified: (Low-INT/Low-EXT, 29%), (Moderate-EXT/Low-INT, 26.

A new population pharmacokinetic model for recombinant factor IX-Fc fusion concentrate including young children with haemophilia B.

Aims: Recombinant factor IX Fc fusion protein (rFIX-Fc) is an extended half-life factor concentrate administered to haemophilia B patients. So far, a population pharmacokinetic (PK) model has only been published for patients aged ≥12 years. The aim was to externally evaluate the predictive performance of the published rFIX-Fc population PK model for patients of all ages and develop a model that describes rFIX-Fc PK using real-world data.

A look under the hood of genomic-estimated breed compositions for brangus cattle: What have we learned?

The Brangus cattle were developed to utilize the superior traits of Angus and Brahman cattle. Their genetic compositions are expected to be stabilized at 3/8 Brahman and 5/8 Angus. Previous studies have shown more than expected Angus lineage with Brangus cattle, and the reasons are yet to be investigated.

Biomechanical Effects of Stemmed Total Knee Arthroplasty on the Human Femur: A CT-Data Based Study.

End-of-stem pain of the femur is a common problem in revision total knee arthroplasty (TKA). It may be caused by a problematic interaction between stem and bone, but the exact biomechanical correlate is still unknown. The aim of this prospective study was to find out how the stem is positioned in the medullary canal, how the femoral geometry changes due to implantation, and whether the results are influenced by the diameter of the trial.

Health, social and economic implications of adolescent risk behaviours/states: protocol for Raine Study Gen2 cohort data linkage study.

Background: Risk-taking behaviours are a major contributor to youth morbidity and mortality. Vulnerability to these negative outcomes is constructed from individual behaviour including risk-taking, and from social context, ecological determinants, early life experience, developmental capacity and mental health, contributing to a state of higher risk. However, although risk-taking is part of normal adolescent development, there is no systematic way to distinguish young people with a high probability of serious adverse outcomes, hindering the capacity to screen and intervene.

The prevalence and significance of gestational cannabis use at an Australian tertiary hospital.

Background: Cannabis is one of the most common non-prescribed psychoactive substances used in pregnancy. The prevalence of gestational cannabis use is increasing.

Aim: The aim was to examine the prevalence of gestational cannabis use and associated pregnancy and neonate outcomes.

Prenatal tobacco and alcohol exposures and the risk of anxiety symptoms in young adulthood: A population-based cohort study.

Background: Epidemiological studies have linked prenatal tobacco and alcohol exposures to internalizing behaviours in children and adolescents with inconsistent findings. Dearth of epidemiological studies have investigated the associations with the risk of experiencing symptoms of anxiety in young adulthood.

Methods: Study participants (N = 1190) were from the Raine Study, a population-based prospective birth cohort based in Perth, Western Australia.

Prenatal alcohol exposure and offspring subsequent alcohol use: A systematic review.

Background: Prenatal alcohol exposure has been found to be associated with adverse physical and mental health outcomes in postnatal life, but the evidence is equivocal as to whether such exposure increases the risk of subsequent alcohol use in the offspring. We systematically reviewed the literature on the association between prenatal alcohol exposure and subsequent alcohol use in the offspring.

Methods: Relevant primary studies were identified via systematic search of PubMed/Medline, SCOPUS, EMBASE and Psych-INFO databases.

Prenatal alcohol and tobacco exposures and the risk of cannabis use in offspring: Findings from a population-based cohort study.

Background: There is a paucity of prospective longitudinal studies examining the associations between maternal use of alcohol and tobacco during pregnancy and the risk of cannabis use in offspring. The aim of this study was to examine the association between prenatal alcohol and tobacco exposures and offspring cannabis use.

Methods: Data were from the Raine Study, a longitudinal prospective birth cohort based in Western Australia.

Mental health and behavioural factors involved in road traffic crashes by young adults: analysis of the Raine Study.

Background: Road traffic crashes (RTC) are a leading cause of mortality and morbidity in young people. Severe mental health and behavioural conditions increase the likelihood of RTC, as do a range of driving-risk activities.

Method: We used data from the Raine Study, a prebirth cohort from Perth, Australia, to assess the relationship between measures of common mental health or behavioural conditions (Child Behavior Checklist Internalising and Externalising scores) at age 17 and subsequent RTC by 27 years, controlling for substance use and driving-risk activities.

Reduced cardiovascular morbidity in patients with hemophilia: results of a 5-year multinational prospective study.

Hemophilia is a congenital bleeding disorder caused by low levels of clotting factor VIII or IX. The life expectancy of people with hemophilia (PWH) has increased with the availability of clotting factor concentrates. At the same time, the incidence of cardiovascular disease (CVD) has increased; in retrospective studies, there are conflicting data regarding if, despite this increase, the incidence is still lower than in the general population.

Psychometric Properties of a Healthcare Provider Burden Scale: Preliminary Results.

Measures are lacking that assess the clinical burden that healthcare providers perceive in treating chronic conditions. This study presents a preliminary psychometric evaluation of a novel self-report measure of provider burden in the treatment of chronic pain. Data for eight burden items were available from vignette studies examining the effects of patient pain severity and medical evidence on clinical burden and judgments for chronic pain.

New Inhibitors in the Ageing Population: A Retrospective, Observational, Cohort Study of New Inhibitors in Older People with Hemophilia.

Introduction: A second peak of inhibitors has been reported in patients with severe hemophilia A (HA) aged >50 years in the United Kingdom. The reason for this suggested breakdown of tolerance in the aging population is unclear, as is the potential impact of regular exposure to the deficient factor by prophylaxis at higher age. No data on hemophilia B (HB) have ever been reported.

Prenatal Tobacco Exposure and the Risk of Tobacco Smoking and Dependence in Offspring: a Systematic Review and Meta-Analysis.

Background: There is some compelling, though not comprehensive, epidemiological evidence which suggests an association between prenatal tobacco exposure and tobacco smoking/dependence in offspring. We conducted a systematic review and meta-analysis to identify the magnitude and consistency of associations reported between prenatal tobacco exposure and subsequent tobacco smoking/dependence in offspring.

Methods: Using the PRISMA guideline, we systematically searched PubMed, SCOPUS, EMBASE and Psych-INFO to identify relevant studies.

Community Perspectives on Patient Credibility and Provider Burden in the Treatment of Chronic Pain.

Objective: This study examined factors influencing lay perceptions of a provider's clinical burden in providing care to a person with chronic pain.

Design: In a between-subjects design that varied three levels of pain severity (4, 6, or 8 out of 10) with two levels of medical evidence (low/high), participants rated the credibility of pain reported by a hypothetical patient and the psychosocial factors expected to mediate the effects of evidence and severity on a provider's burden of care.

Setting: A randomized vignette study in which community participants were recruited via Amazon Mechanical Turk.

Relationship of molecular breeding value for beef tenderness with heifer traits through weaning of their first calf.

Polymorphisms in μ-calpain (CAPN1) that beneficially associate with beef tenderness are reported to antagonistically associate with calving day in beef heifers and post-partum interval to estrus in beef cows. We, therefore, hypothesized that a molecular breeding value for slice shear force, calculated based on CAPN1 and calpastatin (CAST) genotypes, would demonstrate an antagonistic relationship between genomically predicted slice shear force and ordinal calving date in replacement beef heifers. A secondary objective of this study was to evaluate the association of a polymorphism in diacylglycerol O-acyltransferase (DGAT1) with reproductive traits in beef heifers.

Prenatal tobacco exposure and the risk of conduct disorder symptoms in offspring at the age of 14 years: Findings from the Raine Study.

Background: Emerging epidemiological evidence suggests that offspring born to mothers who smoked tobacco during pregnancy may have elevated risk of developing conduct disorder (CD) symptoms. We examined associations between maternal and paternal tobacco smoking during pregnancy and CD symptoms in offspring at the age of 14 years.

Methods: We obtained data from the Raine Study, a multi-generational cohort study based in Western Australia.