Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.

Uterine leiomyomata or fibroids are highly heritable, common, and benign tumors of the uterus with poorly understood etiology. Previous GWAS have reported 72 associated genes but included limited numbers of non-European individuals. Here, we identify 11 novel genes associated with fibroids across multi-ancestry and ancestry-stratified GWAS analyses.

Diagnostic evaluation to identify infection-attributable stillbirth.

Objective: To characterize stillbirth evaluations, including the frequency and yield of investigations for infections causing stillbirth.

Study Design: Retrospective cohort of stillbirths at three university-affiliated perinatal centers from 2017 to 2022. The primary outcome was adherence to American College of Obstetrics and Gynecology core stillbirth evaluation recommendations (placental pathology, fetal autopsy, and fetal genetic testing).

Interpersonal relationships after prenatal diagnosis of congenital heart disease: Social stressors and supports.

Objective: To identify social stressors and supports for expectant parents after prenatal diagnosis of congenital heart disease (CHD) and inform interventions to reduce distress.

Method: Parents of children diagnosed prenatally with CHD (N = 37) were purposively sampled across eight health systems. Qualitative data were collected using crowdsourcing methods and coded/analyzed using thematic analysis.

A shared threat-anticipation circuit is dynamically engaged at different moments by certain and uncertain threat.

Temporal dynamics play a central role in models of emotion: is widely conceptualized as a phasic response to certain-and-imminent danger, whereas is a sustained response to uncertain-or-distal harm. Yet the underlying neurobiology remains contentious. Leveraging a translationally relevant fMRI paradigm and theory-driven modeling approach in 220 adult humans, we demonstrate that certain- and uncertain-threat anticipation recruit a shared circuit that encompasses the central extended amygdala (EAc), periaqueductal gray, midcingulate, and anterior insula.

Safety of combined long-acting injectable cabotegravir and long-acting injectable rilpivirine in virologically suppressed adolescents with HIV (IMPAACT 2017/MOCHA): a phase 1/2, multicentre, open-label, non-comparative, dose-finding study.

Background: Long-acting cabotegravir and long-acting rilpivirine constitute a completely intramuscular antiretroviral therapy (ART) regimen for adults with HIV. We aimed to assess the safety, antiviral activity, and pharmacokinetics of oral cabotegravir and rilpivirine followed by a combination of long-acting cabotegravir and long-acting rilpivirine in virologically suppressed adolescents with HIV.

Methods: The IMPAACT 2017/MOCHA study is a phase 1/2, multicentre, open-label, non-comparative, dose-finding trial being conducted at 18 sites across Botswana, South Africa, Thailand, Uganda, and the USA.

Inflammatory Myofibroblastic Tumor of the Bladder in Childhood: A Three Case Series.

Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor that predominantly affects children and young adults. While it can involve multiple organ systems, IMT of the bladder is remarkably uncommon. We present three pediatric cases of bladder IMT, describing the presentation, evaluation, management, and current follow-up of each.

Biofabrication of an in situ hypoxia-delivery scaffold for cartilage regeneration.

Osteoarthritis (OA) is a debilitating joint condition affecting millions of people worldwide, triggering painful chondral defects (CDs) that ultimately compromise the overarching patients' quality of life. Currently, several reconstructive cartilage techniques (RCTs) (i.e.

Fetal malformations of cortical development: review and clinical guidance.

Malformations of cortical development (MCDs) are a heterogeneous family of congenital brain malformations that originate from disturbed development of the cerebral cortex. MCDs can arise from primary genetic disorders that lead to dysfunction of the molecular processes controlling neuronal proliferation, neuronal migration, cortical folding, or cortical organization. MCDs can also result from secondary, disruptive causes, such as congenital infection or other in utero brain injuries.

Postoperative and Long-Term Patient-Reported Outcomes of Type A Ulnar Polydactyly.

Introduction: Type A ulnar/postaxial polydactyly describes a well-developed supernumerary small finger, which may have self-image and functional sequelae even after reconstructive surgery. We aimed to characterize postoperative outcomes and substantiate the CoULD Ulnar Polydactyly (CUP) Classification's clinical relevance.

Methods: All cases at two major pediatric hospitals from 2012-2022 were reviewed.

Development and Validation of an Electronic Health Record-Based, Pediatric Acute Respiratory Distress Syndrome Subphenotype Classifier Model.

Objective: To determine if hyperinflammatory and hypoinflammatory pediatric acute respiratory distress syndrome (PARDS) subphenotypes defined using serum biomarkers can be determined solely from electronic health record (EHR) data using machine learning.

Design: Retrospective, exploratory analysis using data from 2014 to 2022.

Setting: Single-center quaternary care PICU.

Predicting the Need for Pulmonary Venous Reintervention in Total Anomalous Pulmonary Venous Connection: The Role of Preoperative Echocardiographic Metrics.

Purpose: Development of postoperative obstruction in total anomalous pulmonary venous connection (TAPVC) is a major cause of morbidity and mortality. Although preoperative echocardiography has often been cited as prognostic of postoperative outcome, its predictive value has not been fully evaluated. Pulmonary venous variability index (PVVI) is an echocardiographic metric developed at our center and previously shown to correlate with preoperative clinical markers and catheterization findings of obstruction.

Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a germline vascular dysplasia that is typically characterized by cutaneous capillary malformations and central nervous system arteriovenous malformations (AVM). We report an atypical presentation of CM-AVM2 featuring a giant coronary fistula. A 22-day-old male exhibited a cardiac murmur, leading to the discovery of a large fistula from the left circumflex coronary artery.

Pediatric cardiac arrest registries and survival outcomes: A European study.

Objective: The epidemiology of pediatric cardiac arrest in Europe is largely unknown. We aimed to characterize pediatric cardiac arrest registries and obtain the first survival outcome data on pediatric cardiac arrest in Europe.

Design: This is a prospective multinational survey.

Image-Derived Modeling to Assess Coronary Proximity in Patients Undergoing Transcatheter Pulmonary Valve Replacement With Self-Expanding Valves.

Background: The potential for coronary artery compression (CC) during transcatheter pulmonary valve replacement (TPVR) using self-expanding valves (SEV) is not fully understood, yet anecdotal reports suggest that this risk exists.

Aims And Methods: We performed a retrospective cohort study of patients evaluated for SEV-TPVR to evaluate the relationship between the right ventricular outflow tract (RVOT) and coronary arteries (CA). CT-derived segmentations of the RVOT and CA were created using machine learning.

Complication Rates Following Tibial Tubercle Osteotomy With and Without Distalization in Young Patients With Patellar Instability: A Multicenter Study.

Background: Tibial tubercle osteotomy (TTO) is a surgical procedure for the management of patellofemoral instability (PFI). Tubercle distalization requires a complete osteotomy detachment and has been shown to have an increased rate of certain complications in predominantly adult cohorts. With this study we identify and compare the complication rate of 2 TTO techniques-anteromedializing alone (AM) and anteromedializing with concomitant distalization (AMD) among young patients.

Monitoring mRNA vaccine antigen expression in vivo using PET/CT.

Noninvasive visualization of the distribution and persistence of mRNA vaccine antigen expression in mammalian systems has implications for the development and evaluation of future mRNA vaccines. Here, we genetically fuse E. coli dihydrofolate reductase (eDHFR) to the delta furin diproline modified SARS-CoV-2 spike glycoprotein (S2P) mRNA vaccine and image its expression in female mice and male non-human primates using [F]fluoropropyl-trimethoprim ([F]FP-TMP).

Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome.

Background: Trofinetide is the first available treatment for Rett syndrome (RTT) and is approved in the United States in adults and pediatric patients aged ≥2 years. The DAFFODIL study was conducted in girls aged 2-4 years with RTT to examine the safety, tolerability, and efficacy of trofinetide and to validate that the recommended dosage, according to body weight, achieved target exposure.

Methods: DAFFODIL was a phase 2/3, open-label study of trofinetide consisting of two treatment periods (12 weeks [period A] and ∼21 months [period B]).

Primary vs. secondary closure of tracheocutaneous fistulas: A prospective cohort study.

Objective: To prospectively compare outcomes and complications of the two most common techniques for closure of tracheocutaneous fistulas (TCFs): surgical excision of the tract with primary closure (PC), and de-epithelialization with healing by secondary intention (SI).

Study Design: Prospective cohort study.

Setting: Tertiary academic center.

White matter microstructure in school-age children with down syndrome.

Down syndrome (DS) is the most common genetic cause of intellectual disability, but our understanding of white matter microstructure in children with DS remains limited. Previous studies have reported reductions in white matter integrity, but nearly all studies to date have been conducted in adults or relied solely on diffusion tensor imaging (DTI), which lacks the ability to disentangle underlying properties of white matter organization. This study examined white matter microstructural differences in 7- to 12-year-old children with DS (n = 23), autism (n = 27), and typical development (n = 50) using DTI as well as High Angular Resolution Diffusion Imaging, and Neurite Orientation and Dispersion Imaging.

Valsartan and Cardiac Remodeling in Early-Stage Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial Cardiac Magnetic Resonance Substudy.

Importance: Valsartan has been shown to attenuate phenotypic progression among individuals with early-stage sarcomeric hypertrophic cardiomyopathy (HCM). Myocardial tissue characterization by cardiac magnetic resonance (CMR) imaging may enhance mechanistic insights, but whether valsartan influences these parameters remains uncertain.

Objective: To evaluate the treatment effects of valsartan on myocardial structure, function, and tissue parameters in early-stage sarcomeric HCM.

Current clinical trials for craniopharyngiomas: what's on the horizon?

Craniopharyngiomas are histologically low-grade tumors in the sellar/suprasellar region that grow close to critical structures including the hypothalamus, pituitary gland, and optic chiasm. Due to this challenging location, many patients face long-term complications including neuroendocrine, neurologic, and visual deficits. As a result, there is interest in developing risk-optimized treatments that minimize damage to adjacent normal tissue and limit chronic complications patients face.

Safety and feasibility of the endoscopic endonasal approach to anterior skull base tumour resections in young children.

Tumours of the anterior skull base present unique surgical challenges due to critical neurovascular proximity and developing cranial anatomy. While open transcranial approaches (TCAs) have traditionally been used for these tumors, the endoscopic endonasal approach (EEA) is preferred due to reduced morbidity and higher gross total resection (GTR) rates (1). Studies report excellent GTR rates and reconstructive outcomes with EEA in the under-18 paediatric population, with complications including cerebrospinal fluid (CSF) leak, meningitis, and stroke being relatively rare (2-5).

MR and Ultrasound for Liver Fat Assessment in Children: Techniques and Supporting Evidence.

Hepatic steatosis is a common imaging finding that can be a sign of chronic liver disease, most often associated with metabolic dysfunction-associated steatotic liver disease (MASLD). Imaging techniques for evaluating steatosis range from basic qualitative assessments to advanced and highly accurate quantitative metrics. Among these, MRI-based proton density fat fraction (PDFF) is widely regarded as a reliable and precise imaging biomarker for quantifying liver steatosis.

Burr Hole Hemispherotomy: Case Series.

Background And Objectives: Hemispherotomy represents definitive treatment for drug-resistant epilepsy with unilateral hemispheric onset. Traditional approaches involve a large incision and open craniotomy, with associated risks of blood loss, infection, poor wound healing, pain, cosmetic concerns, and long hospital stays. The authors describe a minimally invasive hemispherotomy technique through a single burr hole overlying the Sylvian fissure.