Iron promotes isocitrate dehydrogenase mutant glioma cell motility.

Enriched iron metabolic features such as high transferrin receptor (TfR) expression and high iron content are commonly observed in aggressive gliomas and can be associated with poor clinical responses. However, the underlying question of how iron contributes to tumor aggression remains elusive. Gliomas harboring isocitrate dehydrogenase (IDH) mutations account for a high percentage (>70 %) of recurrent tumors and cells with an acquired IDH mutation have been reported to have increased motility and invasion.

Promotion of sports, exercise and physical activity participation during postoperative interventions for adolescent idiopathic scoliosis: protocol for an international e-Delphi study.

Introduction: Adolescent idiopathic scoliosis (AIS) is present in 2%-3% of those under 18 years old and has a significant impact on pain, function and quality of life. Up to 10% of adolescents with AIS progress to spinal fusion surgery, and of those individuals many experience reduced musculoskeletal function and do not return to sports postoperatively. Physiotherapists have a significant role in promoting participation and offering a graded return to sports, exercise and physical activity.

Associations between fasting glucose rate-of-change and the missense variant, rs373863828, in an adult Samoan cohort.

Background: The A allele of rs373863828 in CREB3 regulatory factor is associated with high Body Mass Index, but lower odds of type 2 diabetes. These associations have been replicated elsewhere, but to date all studies have been cross-sectional. Our aims were (1) to describe the development of type 2 diabetes and change in fasting glucose between 2010 and 2018 among a longitudinal cohort of adult Samoans without type 2 diabetes or who were not using diabetes medications at baseline, and (2) to examine associations between fasting glucose rate-of-change (mmol/L per year) and the A allele of rs373863828.

Outcome measures for young people with adolescent idiopathic scoliosis: A qualitative exploration of healthcare professionals' perceptions and practices.

Background: Limited knowledge exists on current use of patient reported outcome measures (PROMs) and performance measures for adolescents with idiopathic scoliosis (AIS), as well as health care professionals' (HCPs) perceived barriers and facilitators towards their use. This study's objectives were: 1) to explore current practice of HCPs when assessing outcomes for AIS 2) to understand perceived barriers and facilitators of HCPs to use PROMs 3) to understand perceived barriers and facilitators of HCPs to use performance measures.

Methods: A qualitative study recruited a purposive sample of HCPs from a tertiary hospital in the United Kingdom.

Biliary disease progression in childhood onset autoimmune liver disease: A 30-year follow-up into adulthood.

Background & Aims: Long-term follow-up studies of paediatric onset autoimmune liver disease (AILD) are invaluable in helping better understand the clinical course of disease. In day-to-day practice clinicians struggle with disease definitions whilst patients and parents lack clear prognostic information.

Methods: The clinical progression of 159 patients with childhood onset AILD between June 1990 and December 2013 was reviewed, capturing data up to adulthood (ending May 2021).

Clinical and Functional Analyses of an African-ancestry Gain-of-function HOXB13 Variant Implicated in Aggressive Prostate Cancer.

Background: Recent reports have uncovered a HOXB13 variant (X285K) predisposing to prostate cancer in men of West African ancestry. The clinical relevance and protein function associated with this inherited variant are unknown.

Objective: To determine the clinical relevance of HOXB13 (X285K) in comparison with HOXB13 (G84E) and BRCA2 pathogenic/likely pathogenic (P/LP) variants, and to elucidate the oncogenic mechanisms of the X285K protein.

Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.

Current guidelines recommend single variant testing in relatives of patients with known pathogenic or likely pathogenic germline variants in cancer predisposition genes. This approach may preclude the use of risk-reducing strategies in family members who have pathogenic or likely pathogenic germline variants in other cancer predisposition genes. Cascade testing using multigene panels was performed in 3696 relatives of 7433 probands.

Sustained in vivo perfusion of a re-endothelialized tissue engineered kidney graft in a human-scale animal model.

Despite progress in whole-organ decellularization and recellularization, maintaining long-term perfusion remains a hurdle to realizing clinical translation of bioengineered kidney grafts. The objectives for the present study were to define a threshold glucose consumption rate (GCR) that could be used to predict graft hemocompatibility and utilize this threshold to assess the performance of clinically relevant decellularized porcine kidney grafts recellularized with human umbilical vein endothelial cells (HUVECs). Twenty-two porcine kidneys were decellularized and 19 were re-endothelialized using HUVECs.

A Polynesianspecific missense CETP variant alters the lipid profile.

Identifying population-specific genetic variants associated with disease and disease-predisposing traits is important to provide insights into the genetic determinants of health and disease between populations, as well as furthering genomic justice. Various common pan-population polymorphisms at associate with serum lipid profiles and cardiovascular disease. Here, sequencing of identified a missense variant rs1597000001 (p.

Content validity of the Scoliosis Research Society questionnaire (SRS-22r): A qualitative concept elicitation study.

Introduction: Scoliosis Research Society-22 revised (SRS-22r) is the common questionnaire used to evaluate health related quality of life (HRQOL) for young people with adolescent idiopathic scoliosis (AIS). The aim of this study is to evaluate its content validity for this population.

Methods: In-depth semi-structured interviews were conducted with a purposive sample of young people with AIS (Cobb angle ≥25˚, aged 10-18 years).

Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations.

The fat mass and obesity associated (FTO) locus consistently associates with higher body mass index (BMI) across diverse ancestral groups. However, previous small studies of people of Polynesian ancestries have failed to replicate the association. In this study, we used Bayesian meta-analysis to test rs9939609, the most replicated FTO variant, for association with BMI with a large sample (n = 6095) of Aotearoa New Zealanders of Polynesian (Māori and Pacific) ancestry and of Samoan people living in the Independent State of Samoa and in American Samoa.

A stop-gain variant in is associated with atherogenic lipid profiles.

Current understanding of lipid genetics has come mainly from studies in European-ancestry populations; limited effort has focused on Polynesian populations, whose unique population history and high prevalence of dyslipidemia may provide insight into the biological foundations of variation in lipid levels. Here, we performed an association study to fine map a suggestive association on 5q35 with high-density lipoprotein cholesterol (HDL-C) seen in Micronesian and Polynesian populations. Fine-mapping analyses in a cohort of 2,851 Samoan adults highlighted an association between a stop-gain variant (rs200884524; c.

The protective effect of rs373863828 on type 2 diabetes does not operate through a body composition pathway in adult Samoans.

Objective: The aim of this study was to understand whether the paradoxical association of missense variant rs373863828 in CREB3 regulatory factor (CREBRF) with higher BMI but lower odds of diabetes is explained by either metabolically favorable body fat distribution or greater fat-free mass.

Methods: This study explored the association of the minor allele with dual-energy x-ray absorptiometry-derived body composition in n = 421 Samoans and used path analysis to examine the mediating role of fat and fat-free mass on the relationship between rs373863828 and fasting glucose.

Results: Among females, the rs373863828 minor A allele was associated with greater BMI.

The missense variant, rs373863828, in CREBRF plays a role in longitudinal changes in body mass index in Samoans.

Objective: A missense variant, rs373863828, in CREBRF is associated with obesity in Polynesians. We investigate whether rs373863828 and other factors are associated with body mass index (BMI) rate-of-change between 2010 and 2017-19 in Samoans.

Methods: We used sex-stratified models to test whether BMI rate-of-change was associated with rs373863828, baseline BMI, age, residence, physical activity, and household asset score in a cohort study of 480 Samoan adults measured in both 2010 (mean age 43.

Identifying mental health needs of children and youth with skin disease: A systematic review of screening and assessment tools.

Background And Objectives: (1) To identify patient reported outcome measures (PROMs) which have been used to screen and assess mental health symptoms in studies of youth with skin disease. (2) To critically appraise their evidence base in this population.

Methods: A systematic literature search was conducted within PubMed and PsycINFO combining search terms for pediatric populations, dermatology, screening and assessment tools, and psychological and psychiatric conditions, to identify PROMs which screened or assessed for mental health symptoms in youth with skin disease.

missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand.

Introduction: The minor allele of a missense variant, rs373863828, in is associated with higher body mass index (BMI), lower fasting glucose, and lower odds of type 2 diabetes. rs373863828 is common in Pacific Island populations (minor allele frequency (MAF) 0.096-0.

Content validity of Scoliosis Research Society questionnaire-22 revised (SRS-22r) for adolescents with idiopathic scoliosis: protocol for a qualitative study exploring patient's and practitioner's perspectives.

Introduction: Content validity is the most important measurement property for any patient-reported outcome measure (PROM). It being the extent that the PROM measures important concepts that are relevant to the population of interest. Adolescent with idiopathic scoliosis (AIS) is the most common spinal deformity in paediatric populations, with the Scoliosis Research Society questionnaire-22 revised (SRS-22r) a commonly used PROMof quality of life.