Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital Syndrome.

Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene. The complete spectrum of disease characteristics and prevalence is not yet defined. This report documents the first known cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in MYRF-associated Cardiac-Urogenital Syndrome (MYRF-CUGS).

Comparative analysis of diagnostic accuracy in adult congenital heart disease: A study of three physician groups and ChatGPT.

This research letter evaluates the diagnostic accuracy of three physician groups-pediatric cardiologists, adult congenital heart disease (ACHD) specialists, and general cardiologists-and compares it to the performance of an AI (Artificial Intelligence) LLM model. Based on eight targeted questions in adult congenital heart disease, the analysis highlights significant disparities in correct answer rates, with congenital specialists achieving the highest accuracy and the AI model - the lowest.

CD73 restrains mutant β-catenin oncogenic activity in endometrial carcinomas.

Missense mutations in exon 3 of , the gene encoding β-catenin, are associated with poor outcomes in endometrial carcinomas (EC). Clinically, mutation status has been difficult to use as a predictive biomarker as β-catenin oncogenic activity is modified by other factors, and these determinants are unknown. Here we reveal that CD73 restrains the oncogenic activity of exon 3 β-catenin mutants, and its loss associates with recurrence.

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to heritable and congenital heart disease-associated PAH.

Study Design: We assembled a multi-institutional cohort of children with PAH and SOX17 variants enrolled in the Pediatric Pulmonary Hypertension Network (PPHNet) and other registries. Subjects were identified through exome and PAH gene panel sequencing.

A Single-Center Review of Clinical Outcomes After Transcatheter Relief of Superior Vena Cava Stenosis in a Pediatric and Young Adult Population.

Background: The suspected etiology of superior vena cava (SVC) obstruction is predominantly iatrogenic. Transcatheter interventions relieve stenosis with good long-term results, although there is a paucity of published data in pediatrics. We aim to describe patient characteristics and clinical outcomes after transcatheter SVC intervention at a single-center pediatric quaternary care center.

Opportunities and Solutions: Unintentional Weight Loss.

In this narrative review, the authors provide a concise overview of current information on the identification and management of unintentional weight loss (UWL) in clinical care settings. Unintended weight loss can occur widely and is often multifactorial. Clinicians should use screening tools to identify those experiencing UWL.

Gastric intestinal metaplasia: Prevalence in a large Australian center and nationwide survey of endoscopic practice.

Background And Aim: Atrophic gastritis (AG) and gastric intestinal metaplasia (GIM) are early changes in the stepwise progression to gastric adenocarcinoma. There is heterogeneity in international guidelines regarding the endoscopic diagnosis and surveillance of AG and GIM. This study aims to determine the prevalence of GIM in an Australian center and assess the approach of Australian endoscopists for these two conditions.

Arrhythmia Burden Among Adult Patients With Congenital Heart Disease: A Population-Based Study.

Background: A significant percentage of patients with congenital heart disease surviving into adulthood will develop arrhythmias. These arrhythmias are associated with an increased risk of adverse events and death. We aimed to assess arrhythmia prevalence, risk factors, and associated health care usage in a large national cohort of patients with adult congenital heart disease.

Wireless Pulmonary Artery Pressure Monitor Implantation in a Patient with Duchenne Muscular Dystrophy.

Assessing heart failure progression in patients with Duchenne Muscular Dystrophy (DMD) is challenging given the multi-system nature of disease. Herein we describe the first case use of an implantable pulmonary artery pressure monitor and describe the potential clinical utility of this approach in patients with DMD.

Growth of Coal Mining Operations in the Elk River Valley (Canada) Linked to Increasing Solute Transport of Se, NO, and SO into the Transboundary Koocanusa Reservoir (USA-Canada).

Koocanusa Reservoir (KOC) is a waterbody that spans the United States (U.S.) and Canadian border.

Long-Term Outcomes and Characteristics Associated With Mortality of Adult Patients Post Fontan Surgery: 27-Year Single-Center Experience.

Data on the characteristics and long-term outcomes of patients who underwent Fontan surgery and surviving into adulthood are limited. We aimed to describe our center's long-term experience with this unique patient population. Included were adult patients who had undergone Fontan surgery and were followed up at our Adult Congenital Heart Disease clinic between the years 1994 and 2021.

Occurrence of sleep-disordered breathing in children with pulmonary hypertension.

Background: Obstructive sleep apnea (OSA) has been associated with pulmonary hypertension (PH) through a complex and bidirectional relationship. The prevalence of OSA and other forms of sleep-disordered breathing (SDB) among children with PH is not well understood. A better understanding could help elucidate contributing factors for PH, guide diagnostic testing, and inform therapies.

Influence of Metal Identity in Bipyridine-Based Metal-4N Complexes With Formate.

We present the vibrational spectra of a series of dicationic, organometallic complexes consisting of a transition metal center (Co, Ni, or Cu) coordinated by 4,4'-di(-butyl)-2,2'-bipyridine (DTBbpy) ligands and a formate adduct. Spectral features are analyzed and assigned through comparison with density functional theory calculations, and structures are reported. Natural population analysis shows that the DTBbpy ligands serve as flexible charge reservoirs in each complex.

Factors leading to supranormal cardiac index in pediatric pulmonary hypertension patients treated with parenteral prostanoid therapy.

Parenteral prostanoid therapy (PPT) can result in supranormal cardiac index (SCI; >4 L/min/m) in pediatric pulmonary hypertension (PPH) patients. We evaluated the incidence, hemodynamic factors, and outcomes associated with SCI in PPH. This retrospective cohort study included 22 PPH patients on PPT from 2005 to 2020.

Ventricular global function index is associated with clinical outcomes in pediatric pulmonary hypertension.

Background: Multiple right ventricular (RV) metrics have prognostic value in pulmonary hypertension (PH). A cardiac magnetic resonance imaging (CMR) derived global ventricular function index (GFI) provided improved prediction of composite adverse outcome (CAO) in adults with atherosclerosis. GFI has not yet been explored in a PH population.

Full Profiling of GE81112A, an Underexplored Tetrapeptide Antibiotic with Activity against Gram-Negative Pathogens.

After the first total synthesis combined with structure revision, we performed thorough and profiling of the underexplored tetrapeptide GE81112A. From the determination of the biological activity spectrum and physicochemical and early absorption-distribution-metabolism-excretion-toxicity (eADMET) properties, as well as data regarding tolerability and pharmacokinetics (PK) in mice and efficacy in an Escherichia coli-induced septicemia model, we were able to identify the critical and limiting parameters of the original hit compound. Thus, the generated data will serve as the basis for further compound optimization programs and developability assessments to identify candidates for preclinical/clinical development derived from GE81112A as the lead structure.

Identifying the real-world challenges of dysplasia surveillance in inflammatory bowel disease: a retrospective cohort study in a tertiary health network.

Background: Dysplasia surveillance in inflammatory bowel disease (IBD) is often suboptimal and deviates from guidelines.

Aims: To assess dysplasia surveillance behaviours and adherence to guidelines amongst a large tertiary teaching health network with a specialised IBD unit to identify areas where dysplasia surveillance could be improved.

Methods: A retrospective audit of IBD surveillance colonoscopy practice over an 18-month period was performed using the Provation Endoscopy Database and the hospital's primary sclerosing cholangitis database.

Bone-specific physical activity questionnaire-derived skeletal loading score predicts bone geometry, density, and strength indices: a cross-sectional study.

Introduction: The bone-specific physical activity questionnaire (BPAQ) provides a bone-relevant index of physical activity participation according to the mechanical loads experienced across the life span.

Materials And Methods: We aimed to examine relationships between historical bone-relevant physical activity and pQCT-derived parameters of bone strength. We recruited 532 healthy volunteers (277 males, 255 females) across a broad age range (4-97 years).

Pulmonary artery compliance in different forms of pulmonary hypertension.

Objective: Pulmonary artery compliance (PAC), estimated as stroke volume (SV) divided by pulmonary artery pulse pressure (PP), may be a predictor of survival in pulmonary arterial hypertension (PAH). Resistance-compliance (RC) time, the product of PAC and pulmonary vascular resistance, is reported to be a physiological constant. We investigated if differences in PAC and RC time exist between pulmonary hypertension (PH) subgroups and examined whether PAC is an independent predictor of transplant-free survival in PAH.

Long-term exercise and pulmonary function outcomes in a contemporary cohort of children with congenital diaphragmatic hernia.

Objective: Congenital diaphragmatic hernia (CDH) survivors are at risk for long-term exercise impairment and pulmonary morbidity, but the generalizability of prior reported cohorts are limited by reduced disease severity and older surgical eras. We assessed the mid-childhood exercise and pulmonary function outcomes in a contemporary cohort of CDH survivors.

Study Design: In this retrospective cohort study, we identified 36 consecutive pediatric CDH survivors who underwent cardiopulmonary exercise testing (CPET) and spirometry from 2014 to 2021.