Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.

Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some patients, in particular those with late onset disease, have experienced significant benefit from riboflavin supplementation.

The Test-Retest Reliability of Pain Outcome Measures in People With Phantom Limb Pain.

Objectives: To quantify the test-retest reliability of 3 patient-reported outcome measures of pain for people living with phantom limb pain (PLP) and assess the impact of test-retest errors on future research and clinical decisions.

Methods: Thirty-nine participants (30 males), mean (SD) age: 55 (16), mean (SD) years postamputation: 6.8 (8.

"When I was Younger, My Story Belonged to Everyone Else": Co-production of Resources for Adults Living with Craniosynostosis.

Objective: Despite growing recognition that congenital craniofacial conditions have lifelong implications, psychological support for adults is currently lacking. The aim of this project was to produce a series of short films about living with craniosynostosis in adulthood, alongside a psychoeducational booklet.

Design: The resources were developed using multiple focus groups and meetings attended by researchers, patient representatives, a leading charitable organisation, an award-winning film production company, clinicians, and other experts in the field.

Omitting Radiotherapy after Breast-Conserving Surgery in Luminal A Breast Cancer.

Background: Adjuvant radiotherapy is prescribed after breast-conserving surgery to reduce the risk of local recurrence. However, radiotherapy is inconvenient, costly, and associated with both short-term and long-term side effects. Clinicopathologic factors alone are of limited use in the identification of women at low risk for local recurrence in whom radiotherapy can be omitted.

Australian University Nursing and Allied Health Students' and Staff Physical Activity Promotion Preparedness and Knowledge: A Pre-Post Study Using an Educational Intervention.

The promotion of physical activity (PA) by health professionals is a key strategy to increase PA levels in the population. In this study, we investigated PA promotion, preparedness, and knowledge among university nursing and allied health students and staff, as well as PA resource usage within curricula, before and after an educational intervention. Students and staff from 13 health disciplines at one Australian university were invited to complete an online survey, and a curriculum audits were conducted before and after PA teaching resources were promoted by academic PA champions (n = 14).

Identifying factors influencing study skills engagement and participation for online learners in higher education during COVID-19.

The COVID-19 pandemic disrupted education across the world as campuses closed to restrict the spread of the virus. UK universities swiftly migrated to online delivery. The experiences of students and staff during this transition can inform our return to campus and our ability to deal with future disruption.

Incidental Finding of Gallbladder Torsion During Laparoscopic Cholecystectomy.

Laparoscopic cholecystectomy is a common general surgery procedure, with over a million laparoscopic cholecystectomies performed in the United States annually. A rare presentation, which may be encountered incidentally during surgery, is torsion of the gallbladder. Gallbladder torsion is encountered in 0.

A systematic integrative review examining the impact of Australian rural and remote maternity unit closures.

Background: Rural and remote Australian women are less able to access locally situated maternity care and birthing facilities, largely due to the gradual closures of rural and remote birthing services. Closures have occurred due to workforce issues, safety and quality issues and economic rationalisation of services to offset rising health system costs. An examination of the published literature to gain a deeper understanding of this phenomenon is warranted.

Impact of induction strategy change on first-year rejection in pediatric heart transplantation at a single center-From postoperative basiliximab to either postoperative anti-thymocyte globulin or preoperative basiliximab.

Background: Our pediatric heart transplant center transitioned from post-bypass basiliximab (BAS) induction to either anti-thymocyte globulin (ATG) or pre-bypass BAS. The purpose of this study was to compare first-year rejection rates before and after this change.

Methods: A single-center retrospective analysis was conducted of pediatric heart transplant recipients from 2010 to 2019.

DUCHESS: an evaluation of the ductal carcinoma in situ score for decisions on radiotherapy in patients with low/intermediate-risk DCIS.

Background: Identification of women with DCIS who have a very low risk of local recurrence risk (LRR) after breast-conserving surgery (BCS) is needed to de-escalate therapy. We evaluated the impact of 10-year LRR estimates after BCS, calculated by the integration of a 12-gene molecular expression assay (Oncotype Breast DCIS Score) and clinicopathological features (CPFs), on its ability to change radiation oncologists' recommendations for RT after BCS for DCIS.

Methods: Prospective cohort study of women with DCIS treated with BCS.

Cancer Burden Is Controlled by Mural Cell-β3-Integrin Regulated Crosstalk with Tumor Cells.

Enhanced blood vessel (BV) formation is thought to drive tumor growth through elevated nutrient delivery. However, this observation has overlooked potential roles for mural cells in directly affecting tumor growth independent of BV function. Here we provide clinical data correlating high percentages of mural-β3-integrin-negative tumor BVs with increased tumor sizes but no effect on BV numbers.

Comparing deep learning-based auto-segmentation of organs at risk and clinical target volumes to expert inter-observer variability in radiotherapy planning.

Background: Deep learning-based auto-segmented contours (DC) aim to alleviate labour intensive contouring of organs at risk (OAR) and clinical target volumes (CTV). Most previous DC validation studies have a limited number of expert observers for comparison and/or use a validation dataset related to the training dataset. We determine if DC models are comparable to Radiation Oncologist (RO) inter-observer variability on an independent dataset.

Resource allocation to growth or luxury consumption drives mycorrhizal responses.

Highly variable phenotypic responses in mycorrhizal plants challenge our functional understanding of plant-fungal mutualisms. Using non-invasive high-throughput phenotyping, we observed that arbuscular mycorrhizal (AM) fungi relieved phosphorus (P) limitation and enhanced growth of Brachypodium distachyon under P-limited conditions, while photosynthetic limitation under low nitrogen (N) was exacerbated by the fungus. However, these responses were strongly dependent on host genotype: only the faster growing genotype (Bd3-1) utilised P transferred from the fungus to achieve improved growth under P-limited conditions.

Prospective Assessment of Ultrasound Shear Wave Elastography for Discriminating Biliary Atresia from other Causes of Neonatal Cholestasis.

Objective: To prospectively assess the diagnostic performance of ultrasound shear wave elastography (SWE) and hepatobiliary laboratory biomarkers for discriminating biliary atresia from other causes of neonatal cholestasis.

Study Design: Forty-one patients <3 months of age with neonatal cholestasis (direct bilirubin >2 mg/dL) and possible biliary atresia were prospectively enrolled. Both 2-dimensional (2D) and point ultrasound SWE were performed prior to knowing the final diagnosis.

Pediatric Fontan Associated Liver Disease: Non-invasive Evaluation with Serologic Markers and Acoustic Radiation Force Impulse (ARFI) Elastography.

Hepatic fibrosis is a significant complication in adult Fontan patients suggesting development as a function of time since the surgery. Children with Fontan circulation are not routinely assessed for development of liver disease. We aimed to evaluate the effectiveness of serologic biomarkers and acoustic radiation force impulse (ARFI) elastography to detect liver disease in pediatric Fontan patients.

Real-time interactive planning for radiotherapy of head and neck cancer with volumetric modulated arc therapy.

Background And Purpose: Planning complex radiotherapy treatments can be inefficient, with large variation in plan quality. In this study we evaluated plan quality and planning efficiency using real-time interactive planning (RTIP) for head and neck (HN) volumetric modulated arc therapy (VMAT).

Materials And Methods: RTIP allows manipulation of dose volume histograms (DVHs) in real-time to assess achievable planning target volume (PTV) coverage and organ at risk (OAR) sparing.

Ultrasound Elastography as a Non-Invasive Method to Monitor Liver Disease in Children with Short Bowel Syndrome: Updated Results.

Purpose: The purpose of the study was to determine the accuracy of acoustic radiation force impulse (ARFI) ultrasound elastography in assessing the degree of liver disease in children with short bowel syndrome (SBS).

Methods: A prospective observational cohort study of patients with SBS who underwent a liver biopsy and ARFI elastography was performed. Mean shear wave speed (SWS) and stage of fibrosis was evaluated using t-tests.

Where Public Health Meets Human Rights: Integrating Human Rights into the Validation of the Elimination of Mother-to-Child Transmission of HIV and Syphilis.

In 2014, the World Health Organization (WHO) initiated a process for validation of the elimination of mother-to-child transmission (EMTCT) of HIV and syphilis by countries. For the first time in such a process for the validation of disease elimination, WHO introduced norms and approaches that are grounded in human rights, gender equality, and community engagement. This human rights-based validation process can serve as a key opportunity to enhance accountability for human rights protection by evaluating EMTCT programs against human rights norms and standards, including in relation to gender equality and by ensuring the provision of discrimination-free quality services.

Costs of acquiring phosphorus by vascular land plants: patterns and implications for plant coexistence.

Content Summary 1420 I. Introduction 1421 II. Root adaptations that influence P acquisition 1422 III.

PRMT5 Is a Critical Regulator of Breast Cancer Stem Cell Function via Histone Methylation and FOXP1 Expression.

Breast cancer progression, treatment resistance, and relapse are thought to originate from a small population of tumor cells, breast cancer stem cells (BCSCs). Identification of factors critical for BCSC function is therefore vital for the development of therapies. Here, we identify the arginine methyltransferase PRMT5 as a key in vitro and in vivo regulator of BCSC proliferation and self-renewal and establish FOXP1, a winged helix/forkhead transcription factor, as a critical effector of PRMT5-induced BCSC function.

The Use of Hormone Therapy Alone Versus Hormone Therapy and Radiation Therapy for Breast Cancer in Elderly Women: A Population-Based Study.

Purpose: The Cancer and Leukemia Group B (CALGB) 9343 trial randomized elderly women with estrogen receptor-positive, stage 1 breast cancer to receive either hormone therapy (HT) or HT and radiation therapy (HT-RT) after lumpectomy and showed no difference in survival. After this publication, a practice guideline made HT alone a standard treatment option in British Columbia. The subsequent population-based pattern of practice was studied.

A pilot study of ultrasound elastography as a non-invasive method to monitor liver disease in children with short bowel syndrome.

Background: Our objective was to evaluate the accuracy of acoustic radiation force impulse (ARFI) elastography in determining extent of liver fibrosis in pediatric patients with short bowel syndrome (SBS).

Methods: This prospective cohort study included pediatric patients with SBS who underwent ultrasound with ARFI measurements of shear wave speed (SWS) and liver biopsy within 30days of each other between 12/2014-9/2015. The mean and median SWS were compared to the stage of fibrosis.

Plant growth responses to elevated atmospheric CO2 are increased by phosphorus sufficiency but not by arbuscular mycorrhizas.

Capturing the full growth potential in crops under future elevated CO (eCO) concentrations would be facilitated by improved understanding of eCO effects on uptake and use of mineral nutrients. This study investigates interactions of eCO, soil phosphorus (P), and arbuscular mycorrhizal (AM) symbiosis in Medicago truncatula and Brachypodium distachyon grown under the same conditions. The focus was on eCO effects on vegetative growth, efficiency in acquisition and use of P, and expression of phosphate transporter (PT) genes.

Expression of CDK7, Cyclin H, and MAT1 Is Elevated in Breast Cancer and Is Prognostic in Estrogen Receptor-Positive Breast Cancer.

Purpose: CDK-activating kinase (CAK) is required for the regulation of the cell cycle and is a trimeric complex consisting of cyclin-dependent kinase 7 (CDK7), Cyclin H, and the accessory protein, MAT1. CDK7 also plays a critical role in regulating transcription, primarily by phosphorylating RNA polymerase II, as well as transcription factors such as estrogen receptor-α (ER). Deregulation of cell cycle and transcriptional control are general features of tumor cells, highlighting the potential for the use of CDK7 inhibitors as novel cancer therapeutics.