Parenting Stress in Tuberous Sclerosis Complex.

Background: Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with clinical variability. As the needs of children with TSC may differ, parenting demands may similarly differ. Characterizing parenting stress, or emotional maladaptation from parenting duties, can enable health care providers to assist parents of children with TSC.

The Role of Hospital Performance on Race and Ethnicity Outcome Disparities for US Non-Traumatic Out-of-Hospital Cardiac Arrests.

Background: Factors contributing to worse outcomes for out-of-hospital cardiac arrests (OHCA) from minoritized communities are poorly understood. We sought to evaluate the impact of receiving hospital performance on OHCA outcome disparities.

Methods: We performed a retrospective cohort study of non-traumatic OHCAs from the National Cardiac Arrest Registry to Enhance Survival from 2013-2022 that survived hospital admission.

Efficacy of peripheral nerve stimulation in refractory postamputation pain: A narrative review.

The management of postamputation pain remains a significant clinical challenge, with existing therapeutic approaches often yielding inconsistent outcomes. Neuromodulation techniques, particularly peripheral nerve stimulation (PNS), have emerged as promising interventions. However, the evidence supporting their effectiveness in treating phantom limb pain (PLP) and residual limb pain (RLP) remains limited.

Sterilization Surgery Trends in Texas after Passage of the Texas Heartbeat Act: Sterilization surgery trends in Texas.

Objective: On September 1, 2021, abortion became illegal in Texas once embryonic cardiac activity is detected. The aim of this study was to compare women's characteristics undergoing surgical sterilization before and following the change in abortion-banning laws in Texas.

Design: A retrospective study.

Comprehensive characterization of the transcriptional landscape in Alzheimer's disease (AD) brains.

Alzheimer's disease (AD) is the leading dementia among the elderly with complex origins. Despite extensive investigation into the AD-associated protein-coding genes, the involvement of noncoding RNAs (ncRNAs) and posttranscriptional modification (PTM) in AD pathogenesis remains unclear. Here, we comprehensively characterized the landscape of ncRNAs and PTM events in 1460 samples across six brain regions sourced from the Mount Sinai/JJ Peters VA Medical Center Brain Bank Study and Mayo cohorts, encompassing 33,321 long ncRNAs, 92,897 enhancer RNAs, 53,763 alternative polyadenylation events, and 900,221 A-to-I RNA editing events.

Acute subdural hematomas in nonagenarians and centenarians.

Background: There is minimal literature on the outcomes of acute traumatic subdural hematoma (SDH) in patients 90 years of age or older. This study aims to characterize the presentation and acute outcomes of patients in this population, particularly for surgical candidates.

Methods: Patients 90 years of age or older with acute SDH between 2013-2023 were analyzed (n = 117).

Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Brown-Séquard syndrome after blunt cervical spine trauma in a patient with preinjury multilevel hemilaminectomies and OPLL: illustrative case.

Background: Brown-Séquard syndrome (BSS) is a rare neurological condition characterized by injury to one-half of the spinal cord. In the context of trauma, BSS is typically seen with penetrating injuries. Here, the authors present the unique case of a patient presenting with BSS after blunt trauma.

Risk Factors for Diagnostic Change from Glaucoma Suspect to Primary Open-Angle Glaucoma and Vice Versa over Two Years.

Objective: This study investigates the incidence and causes of diagnostic changes from primary open angle glaucoma suspect (POAGS) to primary open angle glaucoma (POAG), and vice versa, in clinical practice.

Design: This is a retrospective, single site, case-control study.

Participants: It includes patients over age 40 diagnosed with either POAG or POAGS between 2013-2020.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.

DOES WHOLE BLOOD RESUSCITATION INCREASE RISK FOR VENOUS THROMBOEMBOLISM IN TRAUMA PATIENTS? A COMPARISON OF WHOLE BLOOD VS COMPONENT THERAPY IN 3468 PATIENTS.

Background: Whole blood (WB) resuscitation has been shown to provide mortality benefit. However, the impact of whole blood transfusions on the risk of venous thromboembolism (VTE) remains unclear. We sought to compare the VTE risk in patients resuscitated with WB vs component therapy (COMP).

Is there an association between inflammatory biomarkers and organ space surgical site infection after emergency laparotomy in massively transfused trauma patients?

Background: The relationship between inflammatory biomarkers (IB) and organ space surgical site infections (OS-SSIs) after emergency laparotomy (EL) is poorly understood.

Methods: Retrospective, single-center analysis of patients in the Pragmatic, Randomized Optimal Platelet and Plasma Ratios (PROPPR) trial who underwent EL and survived 48 ​h after admission was performed. IB levels of IL-6, IL-8, G-CSF, MCP-1, neutrophil to lymphocyte ratio, and platelet to lymphocyte ratio were analyzed.

Distinguishing from -related disease: qualitative analysis of examination and imaging features.

Introduction: and -related diseases are both phenotypically heterogeneous and clinically difficult to differentiate. There may be examination and imaging features that can aid in establishing a clinical diagnosis.

Methods: A single-center, retrospective, consecutive case series including patients with a molecular confirmation of pathologic variants in either the ABCA4 or PRPH2 were included.

Postpartum Hemorrhagic Morbidity with Scheduled versus Unscheduled Cesarean Delivery at Term.

Objective:  This study aimed to compare the composite maternal hemorrhagic outcomes (CMHOs) among term (≥37 weeks) singletons who had scheduled versus unscheduled cesarean deliveries (CDs). A subgroup analysis was done for those without prior uterine surgeries.

Study Design:  Retrospectively, we identified all singletons at term who had CDs.

A Simulation and Small-Group Pediatric Emergency Medicine Course for Generalist Healthcare Providers: Gastrointestinal and Nutrition Emergencies.

Audience And Type Of Curriculum: This is a review curriculum utilizing multiple methods of education to enhance the skills of generalist healthcare providers in low- and middle-income countries (LMICs) in the identification and stabilization of pediatric respiratory emergencies. Our audience of implementation was Belizean generalist providers (nurses and physicians).

Length Of Curriculum: 8-10 hours.

The primary cilia: Orchestrating cranial neural crest cell development.

Primary cilia (hereafter "cilia") are microtubule-based antenna-like organelles projecting from the surface of vertebrate cells. Cilia can serve as cellular antennae controlling cell growth and differentiation. Absent or dysfunctional cilia frequently lead to craniofacial anomalies known as craniofacial ciliopathies.

Effectiveness of Scrambler Therapy for Alleviating Phantom Limb Pain: A Case Report.

Among the 2 million amputees in the United States, 60% to 90% will experience phantom limb pain (PLP). Managing PLP presents challenges with current evidence-based pharmacological and interventional therapies yielding varied results. In recent years, advancements in neuromodulation, such as scrambler therapy (ST), have demonstrated effectiveness in addressing various chronic and neuropathic pain syndromes.