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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic VariantsBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.
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Acceptability of integrating traditional tuberculosis care with modern healthcare services in the Amhara Regional State of Northwest Ethiopia: A qualitative studyMany people with tuberculosis (TB) rely solely on traditional healthcare services. Integrating traditional healthcare with modern healthcare services can increase access, quality, continuity, consumer satisfaction, and efficiency. However, successful integration of traditional healthcare with modern healthcare services requires stakeholder acceptance.
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Gut Microbiome and Associated Metabolites Following Bariatric Surgery and Comparison to Healthy ControlsThe gut microbiome plays a significant role in regulating the host’s ability to store fat, which impacts the development of obesity. This observational cohort study recruited obese adult men and women scheduled to undergo sleeve gastrectomy and followed up with them 6 months post-surgery to analyse their microbial taxonomic profiles and associated metabolites in comparison to a healthy control group.
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Identification of fatty acid amide hydrolase as a metastasis suppressor in breast cancerClinical management of breast cancer (BC) metastasis remains an unmet need as it accounts for 90% of BC-associated mortality. Although the luminal subtype, which represents >70% of BC cases, is generally associated with a favorable outcome, it is susceptible to metastatic relapse as late as 15 years after treatment discontinuation.
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Urinary tract infections in children: building a causal model-based decision support tool for diagnosis with domain knowledge and prospective dataDiagnosing urinary tract infections (UTIs) in children in the emergency department (ED) is challenging due to the variable clinical presentations and difficulties in obtaining a urine sample free from contamination.
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Normative multiple-breath washout data in school-aged children corrected for sensor errorGraham Kathryn Rachel Alana Hall Ramsey Foong Harper BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc (Hons), PhD BSc (hons), PhD, MBiostat BSc (hons)
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MAN v FAT Soccer: Feasibility Study and Preliminary Efficacy of a Sport-Based Weight-Loss Intervention for Overweight and Obese Men in AustraliaMAN v FAT Soccer is a sport-based weight-loss program for overweight and obese men that originated in the United Kingdom (i.e., as MAN v FAT Football) and appears to successfully engage men with weight loss.
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Longitudinal changes in wellbeing amongst breastfeeding women in Australia and New Zealand during the COVID-19 pandemicThe COVID-19 pandemic has impacted new mothers’ wellbeing and breastfeeding experience. Women have experienced changes in birth and postnatal care and restricted access to their support network. It is unclear how these impacts may have changed over time with shifting rates of infection and policies restricting movement and access to services in Australia and New Zealand.
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“Shame, Doubt and Sadness”: A Qualitative Investigation of the Experience of Self-Stigma in Adolescents with Diverse Sexual OrientationsMany adolescents with diverse sexual orientations lead happy and fulfilled lives. However, evidence consistently suggests elevated rates of mental health difficulties in this population relative to heterosexual peers, and internalization of stigma (i.e., self-stigma) is implicated in these elevated rates. This study aimed to understand and describe the lived experience of self-stigma with respect to participants’ sexual orientations.
Research
Early versus late parenteral nutrition in term and late preterm infants: study protocol for a randomised controlled trialDespite the wide use of parenteral nutrition (PN) in neonatal intensive care units (NICU), there is limited evidence regarding the optimal time to commence PN in term and late preterm infants.