Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.

Applying Health Systems Science Competencies to Contribute to the COVID-19 Pandemic Response.

In the first quarter of 2020, nearly all U.S. medical schools transitioned to virtual instruction and removed medical students from clinical settings because of the emerging COVID-19 pandemic.

Arachidonic acid impairs natural killer cell functions by disrupting signaling pathways driven by activating receptors and reactive oxygen species.

Background: High levels of the polyunsaturated fatty acid arachidonic acid (AA) within the ovarian carcinoma (OC) microenvironment correlate with reduced relapse-free survival. Furthermore, OC progression is tied to compromised immunosurveillance, partially attributed to the impairment of natural killer (NK) cells. However, potential connections between AA and NK cell dysfunction in OC have not been studied.

Neuroimaging-based variability in subtyping biomarkers for psychiatric heterogeneity.

Neuroimaging-based subtyping is increasingly used to explain heterogeneity in psychiatric disorders. However, the clinical utility of these subtyping efforts remains unclear, and replication has been challenging. Here we examined how the choice of neuroimaging measures influences the derivation of neuro-subtypes and the consequences for clinical delineation.

Mitral Valve Intervention, Pulmonary Hypertension, and Survival in 219 Shone's Syndrome Patients.

Background: Relationships between pulmonary hypertension (PHTN), mitral valve intervention (MVI), and death among patients with Shone's syndrome (SS) are unclear. Our recent data suggested temporal progression of MV disease and early survival benefit with MVI at initial operation. In this expanded cohort, we characterized trajectory and impact of PHTN on survival, and its relationship to MVI(s).

Opportunities to Improve Communication With Residency Applicants: Cross-Sectional Study of Obstetrics and Gynecology Residency Program Websites.

Background: As part of the residency application process in the United States, many medical specialties now offer applicants the opportunity to send program signals that indicate high interest to a limited number of residency programs. To determine which residency programs to apply to, and which programs to send signals to, applicants need accurate information to determine which programs align with their future training goals. Most applicants use a program's website to review program characteristics and criteria, so describing the current state of residency program websites can inform programs of best practices.

A Systematic Review and Meta-analysis of the Impact of the COVID-19 Pandemic on Access to HIV Pre-exposure Prophylaxis: Lessons for Future Public Health Crises.

Background: The World Health Organization is committed to strengthening access to pre-exposure prophylaxis (PrEP) for HIV prevention and its integration into primary care services. Unfortunately, the COVID-19 pandemic has disrupted the delivery of primary care, including HIV-related services. To determine the extent of this disruption, we conducted a systematic review and meta-analysis of the changes in access to PrEP services during the pandemic and the reasons for these changes.

Vice Chairs of Education in Obstetrics and Gynecology: Prevalence, Scope, and Ongoing Challenges.

Objective: To estimate the prevalence of the Vice Chair of Education (VCE) role in obstetrics and gynecology (OBGYN) departments and to describe the demographics, responsibilities, resource allocation, and challenges faced by individuals in this role.

Design: A 2-part survey was developed with the Association of Professors of Gynecology and Obstetrics (APGO) Member Engagement Workgroup.

Setting: National survey.

Burnout and Well-Being in Trainees: Findings From a National Survey of US Obstetrics and Gynecology Residents.

Despite national attention on resident well-being, challenges persist. Effective solutions require greater understanding of personal and program factors. To explore burnout, resilience, self-reported mental health, and perceptions of the learning environment in a national sample of obstetrics and gynecology (OB/GYN) residents.

Spontaneous spinal epidural hematoma in infants: A case report and review of the literature.

Background: Spontaneous spinal epidural hematomas (SSEHs) are exceedingly uncommon, especially in infants, with only two reported cases. Diagnosis can be delayed due to the nonspecificity of presenting symptoms.

Case Report: We present a case of SSEH in a 10-month-old boy admitted to the pediatric emergency department with a 5-day history of progressive lower extremity motor weakness.

SciScribe: Automating and contextualizing literature reviews in cardiac surgery.

Background: The task of writing structured content reviews and guidelines has grown stronger and more complex. We propose to go beyond search tools and toward curation tools by automating time-consuming and repetitive steps of extracting and organizing information.

Methods: SciScribe is built as an extension of IBM's Deep Search platform, which provides document processing and search capabilities.

Development of a Novel Adsorbent Derived from Olive Mill Solid Wastes for Enhanced Removal of Methylene Blue.

Industrial wastewater discharge, tainted with hazardous substances, including dyes like methylene blue (MB) from the textile sector, further emphasizes the need for water treatment to produce safe drinking water. This study explores the potential of olive mill solid waste, an abundant and cost-effective agricultural waste in Mediterranean regions, to yield high-quality activated carbon (AC) with zinc chloride activation for MB adsorption. The activation process, carried out at a modest temperature of 500 °C without the need for an inert atmosphere, resulted in AC with remarkable characteristics, boasting a substantial surface area of 1184 cm·g and a total pore volume of 0.

Impact of trauma type on neural mechanisms of threat conditioning and its extinction.

Trauma type moderates the impact of trauma exposure on clinical symptomatology; however, the impact of trauma type on the neural correlates of emotion regulation is not as well understood. This study examines how violent and nonviolent trauma differentially influence the neural correlates of conditioned fear and extinction. We aggregated psychophysiological and fMRI data from three studies; we categorized reported trauma as violent or nonviolent, and subdivided violent trauma as sexual or nonsexual.

The Importance of Discussing the History of Racism in Medical Student Education.

Racial health disparities are tightly linked to the longstanding and pervasive institution of racism. Efforts to reverse disparities begin with awareness and accountability through education. The health care workforce must be formally educated about racist practices, tools, and ideologies that perpetuate poor health outcomes.

Health and wellbeing of staff working at higher education institutions globally during the post-COVID-19 pandemic period: evidence from a cross-sectional study.

Background: The ongoing global crisis of Higher Education (HE) institutions during the post-COVID-19 pandemic period has increased the likelihood of enduring psychological stressors for staff. This study aimed to identify factors associated with job insecurity, burnout, psychological distress and coping amongst staff working at HE institutions globally.

Methods: An anonymous cross-sectional study was conducted in 2023 with staff at HE institutions across 16 countries.

Redesigning Continuous Professional Development: Aligning Learning Needs With Clinical Practice.

Continuous professional development (CPD) in health care refers to the process of lifelong learning including the acquisition of new competencies, knowledge, and professional growth throughout the career of a health care professional. Since implementation, there has seen little change or innovation in CPD. This perspective will review the current state of CPD, including the challenges in traditional CPD models, foundations and strategies for redesign to meet the needs of current and future physicians, and suggestions for changes to modernize CPD.

Evaluating the Diagnostic Performance of Symptom Checkers: Clinical Vignette Study.

Background: Medical self-diagnostic tools (or symptom checkers) are becoming an integral part of digital health and our daily lives, whereby patients are increasingly using them to identify the underlying causes of their symptoms. As such, it is essential to rigorously investigate and comprehensively report the diagnostic performance of symptom checkers using standard clinical and scientific approaches.

Objective: This study aims to evaluate and report the accuracies of a few known and new symptom checkers using a standard and transparent methodology, which allows the scientific community to cross-validate and reproduce the reported results, a step much needed in health informatics.

Spinal epidermoid cyst associated with limited dorsal myeloschisis.

Background: Epidermoid cysts (ECs) are rare benign tumors arising from epidermal cells, associated with congenital abnormalities or acquired through trauma, surgery, or lumbar punctures. They represent <1% of all intraspinal tumors and may be associated with limited dorsal myeloschisis (LDM).

Case Description: A 7-year-old neurologically intact male had a dorsal skin mass since birth located posteriorly in the midline of the inferior thoracic spine.

Serological responses against seasonal influenza viruses in patients with multiple myeloma treated or untreated with daratumumab after two doses of tetravalent vaccine.

Objectives: Daratumumab-treated myeloma patients may face increased seasonal influenza risk due to weakened postvaccination immune responses, especially with daratumumab treatment. We aimed to assess humoral responses to boosted influenza vaccination in daratumumab-treated or -untreated patients.

Methods: In a single-center study, we evaluated humoral responses (hemagglutination-inhibition assay) one month following a two-injection (4-weeks apart) influenza vaccination (standard dose) in 84 patients with multiple myeloma (40 with daratumumab in the past year).

Inequities at the Transition to Obstetrics and Gynecology Residency.

Objective: Although approximately one-fifth of obstetrics and gynecology (OBGYN) residents matriculate from osteopathic or international medical schools, most literature regarding the transition to residency focuses on allopathic medical school graduates. To create comprehensive interventions for this educational transition, we must understand the needs of all incoming residents. Our objective was to examine OBGYN residents' perceptions of their transition to residency, and to understand how residents' background and medical school environment influence their perceived sense of readiness.

Conversion of sleeve gastrectomy to Roux-en-Y gastric bypass: impact on reflux and weight loss.

Background: Sleeve gastrectomy (SG) is the most commonly performed weight loss operation, and its 2 most common complications are postoperative reflux and weight recurrence. There is limited evidence to guide decision-making in treating these conditions.

Objectives: To determine the efficacy of conversion of SG to Roux-en-Y gastric bypass (RYGB) for GERD management and weight loss.