Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.

Background: Brain intraparenchymal schwannoma is a rare clinical entity, generally curable with adequate resection.

Methods And Results: We describe a case in a male patient first presenting at 19 months of age, the youngest reported age for this lesion. It also appears to be the first case connected to a germline TSC2 p.

Extracorporeal Membrane Oxygenation in Children with Pulmonary Atresia and Intact Ventricular Septum: Mortality and Associated Outcomes.

Data on outcomes of extracorporeal membrane oxygenation (ECMO) are limited in patients with pulmonary atresia intact ventricular septum (PAIVS). The objective of this study was to describe the use of ECMO and the associated outcomes in patients with PAIVS. We retrospectively reviewed neonates with PAIVS who received ECMO between 2009 and 2019 in 19 US hospitals affiliated with the Collaborative Research for the Pediatric Cardiac Intensive Care Society (CoRe-PCICS).

Endoglin as a predictive biomarker for pemetrexed sensitivity in non-small-cell lung cancer: a cellular study.

Objective: Based on our previous research, which demonstrated that elevated plasma endoglin (ENG) levels in lung cancer patients were associated with a better prognosis, increased sensitivity to pemetrexed, and enhanced tumor suppression, this study aims to validate these findings at the cellular level. The focus is on membrane and extracellular ENG and their influence on drug response and tumor cell behavior in non-small cell lung cancer (NSCLC) cells.

Methods: The correlation between ENG expression and pemetrexed-induced cytotoxicity in eight human non-squamous subtype NSCLC cell lines was analyzed.

2'-Fucosyllactose inhibits human norovirus replication in human intestinal enteroids.

Unlabelled: Human noroviruses (HuNoVs) are the leading cause of acute gastroenteritis worldwide. Currently, there are no targeted antivirals for the treatment of HuNoV infection. Histo-blood group antigens (HBGAs) on the intestinal epithelium are cellular attachment factors for HuNoVs; molecules that block the binding of HuNoVs to HBGAs thus have the potential to be developed as antivirals.

Twelve tips on applying AI tools in HPE scholarship using Boyer's model.

AI has changed the landscape of health professions education. With the hype now behind us, we find ourselves in the phase of reckoning, considering what's next; where do we start and how can educators use these powerful tools for daily teaching and learning. We recognize the great need for training to use AI meaningfully for education.

Risk for Ocular Hypertension With Intravitreal Dexamethasone Implants in Black and White Patients With Diabetic Macular Edema.

To compare the effects of intravitreal (IVT) 0.7 mg dexamethasone implants on the intraocular pressure (IOP) in Black patients and White patients with diabetic macular edema (DME). A retrospective cohort study was performed of Black patients and White patients with DME who received dexamethasone implants with 12 or more months of follow-up.

ChatGPT vs Expert-Guided Care Pathways for Postesophagectomy Symptom Management.

Background: The objective of this study was to compare generative artificial intelligence-initiated care pathways, using ChatGPT, with expert-guided consensus-initiated care pathways from AskMayoExpert (AME) for symptom management of esophageal cancer patients after esophagectomy.

Methods: A formal protocol for development of 9 AME care pathways was followed for specific patient-identified domains after esophagectomy for esophageal cancer. Domain scores were measured and assessed through the Upper Digestive Disease tool.

Substance Use and Outcomes of Left-Sided Valve Replacement in Patients With Infective Endocarditis.

Background: Rising rates of substance use (SU) have resulted in an increasing need for left-sided valve surgery for SU-associated infective endocarditis (SU-IE). We compared outcomes, readmissions, and costs between IE patients with and without SU-IE in a national cohort.

Methods: Using the Nationwide Readmissions Database (2016-2018), we identified 10,098 patients with infective endocarditis (IE) who underwent isolated aortic or mitral valve replacement.

Quality Analysis of Online Resources for Patients Undergoing Coronary Artery Bypass Grafting.

Background: Online resources are becoming the primary educational resource for patients. Quality and reliability of websites about coronary artery bypass graft (CABG) procedures are unknown.

Methods: We queried 4 search engines (Google, Bing, Yahoo!, and Dogpile) for the terms , , , and .

Surgical Resection of Superior Vena Cava Saccular Aneurysm.

Aneurysms of the superior vena cava are rare vascular malformations of systemic veins. This report presents the case of a 27-year-old woman with an incidental finding of mediastinal shadow widening on the chest roentgenogram that was confirmed by computed tomographic angiography to be a superior vena cava saccular aneurysm >4 cm in diameter. Surgical resection was recommended on the basis of aneurysmal size and shape and was performed through median sternotomy by using cardiopulmonary bypass.

Surgical Margins and Oncologic Outcomes Following Wedge Resection of Pulmonary Metastases in Pediatric and Young Adult Patients with Sarcoma.

Introduction: Children and young adults diagnosed with sarcoma often present with pulmonary metastases requiring wedge resection. It is important to balance the risk of pulmonary recurrence against the desire to limit resection of benign parenchyma. This study aims to determine the impact of resection margins on survival and recurrence among pediatric and young adult sarcoma patients.

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.

Molecular logic for cellular specializations that initiate the auditory parallel processing pathways.

The cochlear nuclear complex (CN), the starting point for all central auditory processing, encompasses a suite of neuronal cell types highly specialized for neural coding of acoustic signals. However, the molecular logic governing these specializations remains unknown. By combining single-nucleus RNA sequencing and Patch-seq analysis, we reveal a set of transcriptionally distinct cell populations encompassing all previously observed types and discover multiple hitherto unknown subtypes with anatomical and physiological identity.

Cost drivers of gastric sleeve procedures performed using robotic platform.

Background: Robotic bariatric surgery adoption rates have increased, and the higher costs associated with robotic sleeve gastrectomy (rSG) are a concern.

Objectives: To investigate the factors associated with increased costs of rSG.

Setting: US hospital database.

Ferumoxytol-enhanced MRI of retroplacental clear space disruption in placenta accreta spectrum.

Introduction: Placenta accreta spectrum (PAS) occurs when the placenta is pathologically adherent to the myometrium. An intact retroplacental clear space (RPCS) is a marker of normal placentation. In this study, we investigate use of the FDA-approved iron supplement ferumoxytol for contrast-enhanced MRI of the RPCS in mouse models of normal pregnancy and PAS.

Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.

The 3-methylglutaconic aciduria (3-MGA-uria) syndromes comprise a heterogeneous group of inborn errors of metabolism defined biochemically by detectable elevation of 3-methylglutaconic acid (3-MGA) in the urine. In type 1 (or primary) 3-MGA-uria, distal defects in the leucine catabolism pathway directly cause this elevation. Secondary 3-MGA-uria syndromes, however, are unrelated to leucine metabolism-specific defects but share a common biochemical phenotype of elevated 3-MGA.

Artificial Intelligence in Health Professions Education assessment: AMEE Guide No. 178.

Health Professions Education (HPE) assessment is being increasingly impacted by Artificial Intelligence (AI), and institutions, educators, and learners are grappling with AI's ever-evolving complexities, dangers, and potential. This AMEE Guide aims to assist all HPE stakeholders by helping them navigate the assessment uncertainty before them. Although the impetus is AI, the Guide grounds its path in pedagogical theory, considers the range of human responses, and then deals with assessment types, challenges, AI roles as tutor and learner, and required competencies.

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).

The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.

Outcomes of Older Adults and Frail Patients Receiving Idecabtagene Vicleucel: A CIBMTR Study.

Idecabtagene vicleucel (ide-cel) is an anti-BCMA CAR-T cell therapy approved for patients with relapsed/refractory multiple myeloma (RRMM) after 2 prior lines of therapy. There is limited data on outcomes of CAR T in older adults and frail patients with RRMM. In this study, we utilized data from the Center for International Blood and Marrow Transplantation Registry to describe the safety and efficacy of ide-cel in these clinically important subgroups.

Utilization of Palliative Care in Cardiogenic Shock Patients: A Retrospective Analysis of the National Inpatient Sample Database, 2020.

Cardiogenic shock (CS) is one of the leading causes of death in patients with myocardial infarction, myocarditis, and congestive heart failure. The utilization patterns of specialist palliative care (PC) consultation in these patients are currently unknown. To determine the utilization of PC in patients with CS and the overall comorbidities of that population.