Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.

δ-Aminolevulinic acid (ALA) dehydratase (ALAD) deficient porphyria (ADP) is an extremely rare form of porphyria, with only eight documented cases. Herein, we report the second known case of ADP in the Western hemisphere and third case with infantile onset of symptoms. A male neonate presented on day three of life with profound hypotonia, pinpoint pupils, absent deep tendon reflexes, and anemia.

Inter-center variations in inpatient outcomes for infants with gastroschisis from the Children's Hospitals Neonatal Consortium.

Objective: To estimate inter-center variation (ICV) in hospital length of stay (LOS) and oral feeding at discharge among infants with gastroschisis.

Study Design: The Children's Hospitals Neonatal Consortium's (CHNC) database was used to identify hospitalized survivors with gastroschisis. Two outcomes were evaluated: LOS and discharge without tube feedings.

Sexual Dysfunction in Chronic Urticaria: A Systematic Review.

Introduction: Chronic urticaria (CU) is frequently a debilitating skin condition characterized by recurrent and spontaneous wheal and flares with significant impact on quality of life. This systematic review examines the impact of CU on sexual health.

Methods: A systematic review using PubMed, Embase, Web of Science, and Cochrane library databases was conducted for articles on sexual health in chronic urticaria.

Hurley Staging Training for Hidradenitis Suppurativa Patients.

Introduction: The Hurley staging system is a grading system utilized to measure hidradenitis suppurativa (HS) severity. Teaching patients to grade the severity of HS may aid in the accuracy of self-reporting for research and clinical purposes. Thus, this study aimed to determine the utility of a Hurley stage learning module (HSLM) for participants to grade images of HS.

Intra-peritoneal Povidone-iodine Irrigation Decreases Abscesses in a Perforated Appendicitis Murine Model.

Background: Children with perforated appendicitis frequently form post-operative intra-abdominal abscesses (IAA). Intra-peritoneal irrigation for prevention remains controversial. Using a perforated appendicitis murine model, we sought to determine the effect of intra-peritoneal irrigation on post-operative IAA and adhesion formation.

Error rates of data processing methods in clinical research: A systematic review and meta-analysis of manuscripts identified through PubMed.

Background: In clinical research, prevention of data errors is paramount to ensuring reproducibility of trial results and the safety and efficacy of the resulting interventions. Over the last 40 years, empirical assessments of data accuracy in clinical research have been reported, however, there has been little systematic synthesis of these results. Although notable exceptions exist, little evidence exists regarding the relative accuracy of different data processing methods.

Screening and identification of gene expression in large cohorts of clinical tissue samples unveils the major involvement of EZH2 and SOX2 in lung cancer.

Lung adenocarcinoma (LUAD), the primary subtype of Non-Small Cell Lung Cancer (NSCLC), accounts for 80 % to 85 % of cases. Due to suboptimal screening method, LUAD is often detected in late stage, leading to aggressive progression and poor outcomes. Therefore, early disease prognosis for the LUAD is high priority.

Infection Rates in Open Hand Fractures: Can Surgical Treatment Be Delayed?

The authors hypothesized that the infection rates of open hand fractures treated in a delayed manner would not be higher than those treated immediately. The authors performed a retrospective chart review of patients treated between January 2008 and July 2014 at a Level 1 Trauma Center. Delayed (> 24 hours) versus early (< 24 hours) surgical treatment groups were identified for comparison to determined infection rates.

Cross-cultural adaptation and validation of the Arabic version of the Stay Independent Brochure as part of the CDC's STEADI initiative among community-dwelling older adults.

Background: The Stay Independent Brochure (SIB) is part of the CDC's STEADI initiative and is a fall risk screening self-report tool. This study aimed to translate and cross-culturally adapt the Arabic version of the SIB (AR-SIB) and evaluate its psychometric properties among community-dwelling older adults.

Methods: The translation and cross-cultural adaptation process followed standard guidelines, including forward and backward translation, expert committee review, and pretesting to ensure semantic and conceptual equivalence, clarity, and cultural relevance of the Arabic version of the SIB.

Balancing High Clinical Volumes and Non-RVU Generating Activities in Radiology, Part ll: Future Directions.

The Radiology Research Alliance (RRA) of the Association of Academic Radiology (AAR) creates task forces to study emerging trends shaping the future of radiology. This article highlights the findings of the AAR-RRA Task Force on Balancing High Clinical Volumes and non-relative value unit (Non-RVU)-Generating Activities. The Task Force's mission was to evaluate and emphasize the value of non-RVU-generating activities that academic radiologists perform.

Interpretation of p16 and p53 in the Classification of Squamous Cell Carcinoma of the Vulva-An Interobserver Agreement Study.

Squamous cell carcinoma of the vulva (vSCC) is currently categorized either as human papillomavirus (HPV) associated or independent. Immunohistochemical stains, p16 INK4a (p16) and p53 are helpful biomarkers to support the designation of vSCC into 1 of the 3 tumor pathways: (1) HPV-associated, (2) HPV-independent, TP53 mutant, or (3) HPV-independent, TP53 wild type. Recently, a framework of p53 expression patterns in vSCC was proposed.

COVID-19 vaccine hesitancy in a small rural southern state: Results of a weighted random sample survey.

Objective: COVID-19 remains a significant health threat to the United States (U.S.) and the world even after the development of effective vaccines.

Physical Activity Monitoring in Children in the 1-Year After 3 or More Days of Invasive Ventilation: Feasibility of Using Accelerometers.

Objectives: To measure physical activity in a cohort of children who survived greater than or equal to 3 days of invasive ventilation.

Design: Prospective cohort study (2018-2021).

Setting: Quaternary children's hospital PICU.

When clinicians and patients disagree on vaccination: what primary care clinicians can learn from COVID-19-vaccine-hesitant patients about communication, trust, and relationships in healthcare.

Background: In the United States, discourse on COVID-19 vaccination has become polarized, and the positions of public health officials are met with skepticism by many vaccine-hesitant Americans. This polarization may impact future vaccination efforts as well as clinician-patient relationships.

Methods: We interviewed 77 vaccine-hesitant patients and 41 clinicians about COVID-19 vaccination communication in primary care as part of a Veterans Affairs (VA) trial evaluating a vaccine-communication intervention.

Randomized controlled trial of a pilot PrEP linkage intervention for individuals leaving incarceration in a southern state: Design and baseline characteristics.

Objective: We report baseline characteristics of a pilot intervention, PrEP-Link, which uses a community health worker (CHW) model to provide navigation to PrEP, the daily HIV preventative medication, and other medical and social services upon release from incarceration.

Trial Design And Methods: This pilot study uses a randomized controlled trial design. The control group receives enhanced standard of care, and the intervention receives enhanced standard of care plus personalized navigation services from the CHW for up to one year.

Characteristics of Young Children Associated with Diagnostic Utility of the Autism Diagnostic Observation Schedule: A DBPNet Study.

Objective: The aim of this study is to identify characteristics of children for whom a developmental-behavioral pediatrician's (DBP) diagnostic impressions of autism spectrum disorder (ASD) or non-ASD were changed by Autism Diagnostic Observation Schedule (ADOS) results.

Method: A prospective study of children 1½ to <6 years consecutively referred to 8 sites for possible ASD. Cognitive/developmental, language, and adaptive testing varied, as each site followed its usual clinical approach.

Abnormal Exercise Gas Exchange Before Pulmonary Emboli Diagnosis.

A 20-year-old male underwent diagnostic testing due to unexplained shortness of breath and chest discomfort. He had no previous medical problems and was not taking any medications. Initial evaluations included cardiopulmonary exercise testing (CPET), which yielded results that were reported as normal.

Cardiac Function Decline After General Anesthesia and Cardiac Catheterization in Pediatric Cardiac Transplant Recipients.

Background: Pediatric cardiac transplant recipients undergo elective cardiac catheterization and endomyocardial biopsy (CC/EMB) for graft dysfunction surveillance often facilitated by general anesthesia (GA). GA and positive pressure ventilation (PPV) also depress cardiac function confounding the graft's functional assessment. We aimed to evaluate the frequency of cardiac function decline, going from the awake to the anesthetized state, and determine its association with anesthetic and patient-related factors.

Immune digital twins for complex human pathologies: applications, limitations, and challenges.

Digital twins represent a key technology for precision health. Medical digital twins consist of computational models that represent the health state of individual patients over time, enabling optimal therapeutics and forecasting patient prognosis. Many health conditions involve the immune system, so it is crucial to include its key features when designing medical digital twins.

A comprehensive review of evolving treatment strategies for Dravet syndrome: Insights from randomized trials, meta-analyses, real-world evidence, and emerging therapeutic approaches.

Dravet syndrome (DS) is a severe genetic developmental and epileptic encephalopathy, primarily caused by SCN1A gene mutations. Historically, treatments like clobazam and valproate have been used without evidence from randomized controlled trials (RCTs). However, the therapeutic landscape of DS has evolved with multiple RCTs demonstrating the efficacy and safety of three antiseizure medications (ASMs): stiripentol, cannabidiol (CBD), and fenfluramine.