Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.

Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.

Effects of the Transcutaneous Electrical Stimulation System on Heartburn, Regurgitation and Esophageal Acid Exposure in GERD Patients-An Uncontrolled Feasibility Study.

Background: Proton pump inhibitors (PPI) for gastroesophageal reflux disease (GERD) are associated with a high failure rate. Our uncontrolled feasibility study aimed determining the effect of a transcutaneous electrical stimulation system (TESS) on GERD symptoms and acid exposure time (AET).

Methods: Recruited patients with heartburn and regurgitation.

Characterization and Detection Strategy Exploration in Cryptogenic Hepatocellular Carcinoma: Insights From a Super-Aged Region in Japan.

Background And Aim: In recent years, there has been a rise in cryptogenic hepatocellular carcinoma (c-HCC) cases in Japan, posing a detection challenge due to an unknown etiology. This study aims to enhance diagnostic strategies for c-HCC by analyzing its characteristics and exploring current opportunities for detection.

Methods: A retrospective study was conducted from April 2012 to March 2022, enrolling 372 newly diagnosed hepatocellular carcinoma (HCC) patients.

Characteristics of Resection Parameters in Robot-Assisted Total Knee Arthroplasty With the Ligament Balancing Workflow.

Objective: Robotic-assisted total knee arthroplasty (TKA) is a novel orthopedic technique. The workflow of robotic-assisted TKA is quite different from that of traditional manual TKA and may result incompletely different resection parameters. Understanding these parameters may help surgeons better perform robotic-assisted TKA.

Concurrent Perioperative Benzodiazepine and Opioid Utilization in Opioid-Naive Patients Undergoing Soft Tissue Hand Surgery.

Background: While concomitant opioid and benzodiazepine use is discouraged due to an increased risk of sedation/overdose, the extent of perioperative opioid utilization in hand surgery patients already using benzodiazepines is unknown.

Methods: Using an administrative claims database, we identified adults undergoing carpal tunnel, DeQuervain, or trigger finger release, palmar fasciectomies, ganglion/mucoid cyst removals, and hand/wrist soft tissue mass excisions from 2011 to 2021. We identified opioid-naive patients with a benzodiazepine prescription within 90 days before surgery.

Supravalvular aortic stenosis repair in a 3-year-old child with Williams syndrome using an interdigitating slide aortoplasty.

Several techniques for the surgical correction of congenital supravalvular aortic stenosis have been devised. We describe the step-by-step surgical approach of a slide aortoplasty to correct localized supravalvular aortic stenosis in a 3-year-old child with Williams syndrome.

Lateral Atrial Expression Patterns Provide Insights into Local Transcription Disequilibrium Contributing to Disease Susceptibility.

Background: Transcriptional dysregulation, possibly affected by genetic variation, contributes to disease development. Due to dissimilarities in development, function, and remodeling during disease progression, transcriptional differences between the left atrial (LA) and right atrial (RA) may provide insight into diseases such as atrial fibrillation.

Methods: Lateral differences in atrial transcription were evaluated in CATCH ME (Characterizing Atrial fibrillation by Translating its Causes into Health Modifiers in the Elderly) using a 2-stage discovery and replication design.

Angular hypertrophied epiphysis of the thumb distal phalanx in radial polydactyly.

In a series of 271 consecutive duplicated thumbs, an angular, hypertrophied epiphysis was detected in 13 thumbs. We propose a revised version of the radial polydactyly classification that includes this pattern as a separate type from triphalangeal thumb.

Gut Microbiota Alterations in Patients With Kawasaki Disease.

The intestinal microbiota influences many host biological processes, including metabolism, intestinal barrier functions, and immune responses in the gut and distant organs. Alterations in its composition have been associated with the development of inflammatory disorders and cardiovascular diseases, including Kawasaki disease (KD). KD is an acute pediatric vasculitis of unknown etiology and the leading cause of acquired heart disease in children in the United States.

MicroRNA Expression in High-Grade B-Cell Lymphoma With 11q Aberration.

Mature aggressive B-cell lymphomas, such as Burkitt lymphoma (BL) and Diffuse large B-cell lymphoma (DLBCL), show variations in microRNA (miRNA) expression. The entity of High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) shares several biological features with both BL and DLBCL but data on its miRNA expression profile are yet scarce. Hence, this study aims to analyze the potential differences in miRNA expression of HGBCL-11q compared to BL and DLBCL.

Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.

, a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. We present a case of a "healthy" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated.

Performance of Chat Generative Pre-trained Transformer-4o in the Adult Clinical Cardiology Self-Assessment Program.

Aims: This study evaluates the performance of OpenAI's latest large language model (LLM), Chat Generative Pre-trained Transformer-4o, on the Adult Clinical Cardiology Self-Assessment Program (ACCSAP).

Methods And Results: Chat Generative Pre-trained Transformer-4o was tested on 639 ACCSAP questions, excluding 45 questions containing video clips, resulting in 594 questions for analysis. The questions included a mix of text-based and static image-based [electrocardiogram (ECG), angiogram, computed tomography (CT) scan, and echocardiogram] formats.

Multimodal data integration to predict atrial fibrillation.

Aims: Many studies have utilized data sources such as clinical variables, polygenic risk scores, electrocardiogram (ECG), and plasma proteins to predict the risk of atrial fibrillation (AF). However, few studies have integrated all four sources from a single study to comprehensively assess AF prediction.

Methods And Results: We included 8374 (Visit 3, 1993-95) and 3730 (Visit 5, 2011-13) participants from the Atherosclerosis Risk in Communities Study to predict incident AF and prevalent (but covert) AF.

Determinants of physical function, as measured using PROMIS PF-10a, in patients with rheumatoid arthritis: results from the international COVID-19 Vaccination in Autoimmune Diseases (COVAD) study.

Objectives: Physical function in RA is largely influenced by multiple clinical factors, however, there is a growing body of evidence that psychological state and other comorbidities also play an essential role. Using data obtained in the COVID-19 Vaccination in Autoimmune Diseases study, an international self-reported e-survey, we aimed to explore the predictive ability of sociodemographic and clinical variables on Patient-Reported Outcomes Measurement Information System Physical Function Short Form 10a (PROMIS PF-10a) in RA and to investigate variation in disease activity and functional outcomes based on country-level socio-economic parameters.

Methods: Patient demographics, disease characteristics including current symptom status, functional status and treatment variables, as well as income level of the country of residence, were extracted from survey responses.

Pectus Carinatum Repair Using the Sandwiched Bars and Screw Fixation System: A Retrospective Cohort Study of a Single Center Experience.

Background And Aims: Pectus carinatum (PC) is the second most common deformity of the anterior chest wall, resulting in detrimental effects on body image and quality of life. This study evaluated the safety, effectiveness, and factors associated with the treatment of PC using a sandwiched bar and screw fixation system, first performed in Vietnam at the University Medical Center Ho Chi Minh City in 2016.

Methods: This retrospective cohort study was conducted from March 2016 to February 2023 in patients with PC and PC-mixed pectus excavatum (PE) deformities.

Association of Cardiovascular Risk Factors With Major and Minor Electrocardiographic Abnormalities: A Report From the Cross-Sectional Phase of Tehran Cohort Study.

Background And Aims: In the current study, we aimed to identify the association between major and minor electrocardiographic abnormalities and cardiovascular risk factors.

Methods: We used the Tehran cohort study baseline data, an ongoing multidisciplinary, longitudinal study designed to identify cardiovascular disease risk factors in the adult population of Tehran. The electrocardiograms (ECGs) of 7630 Iranian adults aged 35 years and above were analyzed.

SAFE-GOALS: a protocol for goals of care discussions in the intensive care unit.

Introduction: In critical care, there is often a lack of understanding regarding patient preferences toward end-of-life care. Goals of care discussions are poorly defined and inhibited by clinician apprehension, prognostic uncertainty, and discomfort from both sides. In the delivery of bad news, protocol-based discussions have proven beneficial, yet no such protocol exists for goals of care discussions in the intensive care unit (ICU).

High-grade liver injury: outcomes with a trauma surgery-liver surgery collaborative approach.

Background: Operative mortality for high-grade liver injury (HGLI) remains 42% to 66%, with near-universal mortality after retrohepatic caval injury. The objective of this study was to evaluate mortality and complications of operative and nonoperative management (OM and NOM) of HGLI at our institution, characterized by a trauma surgery-liver surgery collaborative approach to trauma care.

Methods: This was an observational cohort study of adult patients (age ≥16) with HGLI (The American Association for Surgery of Trauma (AAST) grades IV and V) admitted to an urban level I trauma center from January 2010 to November 2021.

Changes in multidisciplinary perceptions of trauma video review following implementation of a novel program: let us go to the tape.

Background: Trauma video review (TVR) is an evolving technology that can be used to measure technical and non-technical aspects of trauma care leading to meaningful improvements. Only 30% of centers currently use TVR, with non-users citing medicolegal concerns, staff discomfort with recording, and resource constraints as barriers to implementation. Multiple studies have shown established TVR programs are well-perceived by staff.

Trauma Survivors Network: history and evolution of a program empowering survivors and families impacted by traumatic injury.

The Trauma Survivors Network (TSN), a program of the American Trauma Society (ATS), has a unique history spanning decades with a vision to continue expanding and strengthening services to support survivors and families impacted by traumatic injury. Since the COVID-19 pandemic, the ATS has adapted TSN services to provide both virtual and in-person services for trauma survivors, increasing equity and inclusion for many survivors to access TSN services for the first time. The recent policy changes in the American College of Surgeons Committee on Trauma provide an impetus for the TSN to grow and expand services in support of a diverse group of trauma survivors and their loved ones.

Alternative splicing of modulatory immune receptors in T lymphocytes: a newly identified and targetable mechanism for anticancer immunotherapy.

Alternative splicing (AS) is a mechanism that generates translational diversity within a genome. Equally important is the dynamic adaptability of the splicing machinery, which can give preference to one isoform over others encoded by a single gene. These isoform preferences change in response to the cell's state and function.

Comparison of autologous hematopoietic cell transplantation, matched sibling donor hematopoietic cell transplantation, and chemotherapy in patients with favorable- and intermediate-risk acute myeloid leukemia.

Introduction: Hematopoietic stem cell transplantation (HSCT) and chemotherapy are considered potentially curative options for post-remission therapy in acute myeloid leukemia (AML). However, the comparative effectiveness of these approaches in favorable- and intermediate-risk AML remains unclear and requires further investigation.

Methods: In this retrospective study, 111 patients diagnosed with de novo favorable- and intermediate-risk AML, categorized according to the ELN 2022 guidelines, were investigated to compare outcomes following autologous HSCT (auto-HSCT), matched sibling donor HSCT (MSD-HSCT), and chemotherapy.

Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.

Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.

Dual T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report.

Background: With recent advances in clinical practice, including the use of reduced-toxicity conditioning regimens and innovative approaches such as ex vivo TCRαβ/CD19 depletion of haploidentical donor stem cells or post-transplant cyclophosphamide (PTCY), hematopoietic stem cell transplantation (HSCT) has emerged as a curative treatment option for a growing population of patients with inborn errors of immunity (IEI). However, despite these promising developments, graft failure (GF) remains a significant concern associated with HSCT in these patients. Although a second HSCT is the only established salvage therapy for patients who experience GF, there are no uniform, standardized strategies for performing these second transplants.