Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.

The role of genomic testing in rare disease clinical management is growing. However, geographical and socioeconomic factors contribute to inequitable uptake of testing. Geographical investigations of genomic testing across Australia have not been undertaken.

Evaluation of an Automated Priming Bolus for Improving Prandial Glucose Control in Full Closed Loop Delivery.

Automated insulin delivery (AID) is widely available to people with type 1 diabetes (T1D), providing superior glycemic control versus traditional methods. The next generation of AID devices focus on minimizing user/device interactions, especially around meals ("full closed loop," [FCL]). Our goal was to assess the postprandial glycemic impact of the bolus priming system (BPS), an algorithm delivering fixed insulin doses based on the likelihood of a meal having occurred, in conjunction with UVA's latest AID.

Management of Post-cardiotomy Shock.

Patients undergoing cardiac surgery experience significant physiologic derangements that place them at risk for multiple shock phenotypes. Any combination of cardiogenic, obstructive, hemorrhagic, or vasoplegic shock occurs commonly in post-cardiotomy patients. The approach to the diagnosis and management of these shock states has many facets that are distinct compared to non-surgical cardiac intensive care unit patients.

and variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.

Recent studies have established an association between variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in and , respectively.

Effectiveness of the etonogestrel subdermal implant in users with overweight and obesity: a systematic literature review.

Background: The etonogestrel (ENG) subdermal implant is considered a well-tolerated and effective contraception option to avoid unintended pregnancies. However, it is unclear whether being affected by overweight or obesity diminishes the effectiveness of the implant.

Objectives: To systematically assess the published evidence on implant contraceptive effectiveness in women with overweight or obesity, and in women who underwent bariatric surgery.

An Intervention to Support Newly Admitted Students' Transition to Pharmacy School.

Objective: This study aimed to provide prematriculation intervention addressing basic needs for newly admitted Doctor of Pharmacy students, and to assess postintervention changes made by students in the transition areas.

Methods: Six transition areas were identified as basic needs that should be addressed by students before matriculation to enhance their potential for academic success. These areas included housing, commute, nonschool responsibilities and commitments (eg, childcare, excessive extracurricular activities), work, finances, and study approach.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Purpose: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mitochondrial disorders (MD) undergoing ultrarapid genomic testing as part of a national program.

Methods: Ultrarapid genomic sequencing was performed in 454 families (genome sequencing: n = 290, exome sequencing +/- mitochondrial DNA sequencing: n = 164). In 91 individuals, MD was considered, prompting analysis using an MD virtual gene panel.

Alterations in the plasma proteome persist ten months after recovery from mild to moderate SARS-CoV-2 infection.

Background: Limited data are available describing the effects of SARS-CoV-2 breakthrough infections on the plasma proteome.

Methods: PCR-positive SARS-CoV-2 patients, enrolled in a natural history study, underwent analysis of the plasma proteome. A prospective cohort of 66 unvaccinated and 24 vaccinated persons with different degrees of infection severity were evaluated acutely (within 40 days of symptom onset), and at three and ten months.

Walking in a controlled ankle motion (CAM) boot: In-boot measurement of joint kinematics and kinetics.

Research investigating ankle function during walking in a controlled ankle motion (CAM) boot has either placed markers on the outside of the boot or made major alterations to the structure of the CAM boot to uncover key landmarks. The aim of this study was to quantify joint kinematics and kinetics using "in-boot" skin markers whilst making only minimal structural alterations. Seventeen healthy participants walked at their preferred walking speed in two conditions: (1) in standard athletic trainers (ASICS patriot 8, ASICS Oceania Pty Ltd, USA), and (2) using a hard-cased CAM boot (Rebound® Air Walker, Össur, Iceland) fitted on the right foot.

First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta.

Talipes equinovarus, also called clubfoot, is a relatively common congenital defect affecting approximately one in every 1000 live births. Most cases of clubfoot are expected to be idiopathic and unrelated to an underlying genetic syndrome. In approximately 20% of cases, a clear genetic etiology is identified.

Standardized Data Elements for Patients With Acute Pulmonary Embolism: A Consensus Report From the Pulmonary Embolism Research Collaborative.

Recent advances in therapy and the promulgation of multidisciplinary pulmonary embolism teams show great promise to improve management and outcomes of acute pulmonary embolism (PE). However, the absence of randomized evidence and lack of consensus leads to tremendous variations in treatment and compromises the wide implementation of new innovations. Moreover, the changing landscape of health care, where quality, cost, and accountability are increasingly relevant, dictates that a broad spectrum of outcomes of care must be routinely monitored to fully capture the impact of modern PE treatment.

Implementation of a rural emergency department-initiated buprenorphine program in the mountain west: a study protocol.

Background: Opioid related overdose morbidity and mortality continue to significantly impact rural communities. Nationwide, emergency departments (EDs) have seen an increase in opioid use disorder (OUD)-related visits compared to other substance use disorders (SUD). ED-initiated buprenorphine is associated with increased treatment engagement at 30 days.

Building the PharmD Pipeline With a Pre-Pharmacy Track for Working Adults Marketed to Pharmacy Technicians.

Objective: To describe the activities undertaken at Mercer University (MU) to establish a complete pre-pharmacy curriculum for working adults and market the program to pharmacy technicians in metropolitan Atlanta. To document post-implementation, the yield of students to the pre-pharmacy program and subsequent yield of Doctor of Pharmacy (PharmD) students to the MU College of Pharmacy.

Methods: The level of retrospective interest in the pre-pharmacy program was measured by a survey questionnaire administered to MU PharmD students who had completed their pre-pharmacy courses in metropolitan Atlanta colleges and universities.

Measuring misclassification and sample bias in passive surveillance systems: Improving prevalence estimates of critical congenital heart defects in state-based passive surveillance systems.

Objectives: We assessed reporting misclassification for 12 critical congenital heart defects (CCHDs) identified through administrative diagnosis codes within a passive surveillance system. We measured the effect of misclassification on prevalence estimation. Lastly, we investigated a sample-based review strategy to estimate surveillance misclassification resulting from administrative diagnosis codes for case detection.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.

Impaired immune responses in the airways are associated with poor outcome in critically ill COVID-19 patients.

Introduction: Mounting evidence indicates that an individual's humoral adaptive immune response plays a critical role in the setting of SARS-CoV-2 infection, and that the efficiency of the response correlates with disease severity. The relationship between the adaptive immune dynamics in the lower airways with those in the systemic circulation, and how these relate to an individual's clinical response to SARS-CoV-2 infection, are less understood and are the focus of this study.

Material And Methods: We investigated the adaptive immune response to SARS-CoV-2 in paired samples from the lower airways and blood from 27 critically ill patients during the first wave of the pandemic (median time from symptom onset to intubation 11 days).

Long-term outcomes in advanced anterior skull base malignancy: a single quaternary institution experience.

Background: Advanced skull base malignancies are a heterogenous subset of head and neck cancers, and management is often complex. In recent times, there has been a paradigm shift in surgical technique and the advent of novel systemic options. Our goal was to analyse the long-term outcomes of a single quaternary head and neck and skull base service.