Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

Composite dietary antioxidant index, chronic respiratory disease, and all-cause mortality: National Health and Nutrition Examination Survey, 2003-2018.

Purpose: Diet rich in antioxidant may protect against chronic respiratory disease (CRD), but few studies have evaluated the association between composite dietary antioxidant index (CDAI) and CRD. The study aimed to examine the association of CDAI with the risk of CRD and all-cause mortality in CRD patients from the US.

Methods: Data were obtained from the National Health and Nutrition Examination Survey, 2003-2018.

Embolization of the Middle Meningeal Artery for Chronic Subdural Hematoma.

Background: Patients receiving standard treatment for chronic subdural hematoma have a high risk of treatment failure. The effect of adjunctive middle meningeal artery embolization on the risk of treatment failure in this population remains unknown.

Methods: We randomly assigned patients with symptomatic chronic subdural hematoma to undergo middle meningeal artery embolization as an adjunct to standard treatment (embolization group) or to receive standard treatment alone (control group).

Utility of Ultrasound in Evaluating an Ambiguously Working Thoracic Epidural: A Case Series.

A thoracic epidural is commonly used for analgesia following trauma or surgery. Traditionally, thoracic epidurals are performed using the loss of resistance technique. However, false-positive loss of resistance and catheter placement outside the epidural space is possible.

Provider & nursing perspectives on the "panculture": opportunities for innovative diagnostic stewardship interventions.

Objective: To examine practices of providers and nursing staff in evaluating febrile patients and identify drivers of excessive diagnostic testing.

Design: Prospective multiple-choice surveys.

Setting: Inpatient areas and the Emergency Department at Rhode Island Hospital (RIH) in Providence, RI.

Surface Rendering of Cross-Sectional Imaging and Medical Illustration for Perinatal Planning in Conjoined Twins.

Introduction: Surface rendering of diagnostic imaging data can reveal hidden conditions with an almost life-like realism. However, early gestation images alone are often insufficient to accurately predict postnatal anatomy. Yet, time-sensitive decisions may have to be made before detailed imaging becomes possible.

Trends in Sickle Cell Disease Mortality: 1979-2020.

Background And Objectives: Although sickle cell disease (SCD)-related childhood mortality in the United States significantly improved in the 1990s, unclear is the trend in SCD-related mortality more recently given the continued disparities faced by this minoritized population. In this analysis, we aimed to (1) compare the overall and age-specific mortality rates from 1999 to 2009 vs 2010 to 2020 with a particular focus on the age of transition and (2) determine the most common causes of death for the US SCD population for 2010 to 2020.

Methods: We analyzed publicly available data from the Centers for Disease Control and Prevention WONDER database, a compilation of national-level mortality statistics from 1979 to 2020 derived from death certificates compiled by the National Center for Health Statistics.

Participant acceptability and clinician satisfaction of cognitive behavioural therapy and medication management algorithm compared with enhanced standard care for treatment of depression among youth with HIV.

Primary results of the International Maternal Pediatric Adolescent AIDS Clinical Trials Network (IMPAACT) 2002 trial showed that cognitive behavioural therapy (CBT) and medication management algorithm (MMA) (COMB-R) significantly improved depression in youth with HIV (YWH) compared with enhanced standard care (ESC). Acceptability and satisfaction were examined among study participants and clinicians. Between March 2017 and March 2019, 13 U.

Health Care Service Utilization Among People with HIV, Chronic Pain, and Depression: Utilization and Cost Outcomes from the HIV-PASS Study.

In the United States (U.S.), 90% of annual health care expenditures are devoted to people with chronic physical and mental health conditions.

The moderating roles of childhood adversity on program outcomes in residential care in a diverse sample.

A better understanding of how childhood adversity (CA) patterns influence the effectiveness of Trauma Informed Care (TIC) for youth in residential programs is needed. Utilizing a longitudinal design, the study examined how CA patterns influenced aggression and self-injurious behavior during treatment and emotional and conduct outcomes for 1,343 racially diverse adolescents in a TIC residential program. Latent class analysis identified five CA patterns.

Evolutionary trajectories of β-lactam resistance in strains.

Unlabelled: Resistance to ampicillin and imipenem in is infrequent. However, the evolution of resistance can occur through prolonged antibiotic exposure during the treatment of chronic infections. In this study, we conducted a long-term evolution experiment using four genetically diverse strains of with varying susceptibilities to ampicillin and imipenem.

Technology-Assisted Parenting Intervention Plus Therapist Coaching: A Pilot Randomized Trial in a Community Practice Setting.

Disruptive behaviors are the most common clinical presentation in children and adolescents, particularly among disadvantaged youth referred to community mental health clinics (CMHCs). When left unaddressed, disruptive behaviors can increase the risk of adverse mental health outcomes. While parenting interventions are known to be efficacious and efficient treatment approaches, there are many barriers to involvement in such programs, particularly for disadvantaged populations.

Reactions to and Impact of Survivor Online Disclosures: A Qualitative Analysis.

Social reactions to disclosure of sexual victimization play an important role in the process of recovery. The purpose of this qualitative study was to explore the impact of online disclosure of sexual victimization. The sample for this qualitative study ( = 17) focused on participants who shared their experiences with disclosing about their sexual victimization online and the reactions received in these spaces.

Are Drains Associated With Infection After Operative Fixation of High-Risk Tibial Plateau and Pilon Fractures?

Objectives: To determine the association between closed suction drainage and postoperative infection in patients with tibial plateau or pilon fractures. Secondarily, this study assessed if intrawound vancomycin powder modified the association of closed surgical drains with infection.

Methods: Design: Secondary analysis of the Effect of Intrawound Vancomycin Powder in Operatively Treated High-risk Tibia Fractures: A Randomized Clinical Trial (VANCO) trial.

A Retrospective Study Evaluating Asthma Control in Patients on Fluticasone Propionate/Salmeterol Proactive Regular Dosing with a History of Uncontrolled Asthma.

Introduction: The MERIT study in Malaysia is a real-world retrospective, observational, multicenter study that evaluated asthma control in patients with uncontrolled asthma who were switched from as-needed (pro re nata [PRN]) budesonide/formoterol or inhaled corticosteroid (ICS) whenever a short-acting beta-agonist (SABA) was taken, to proactive regular dosing of fluticasone propionate/salmeterol (FP/SAL PRD).

Methods: Data from the medical records of patients who were stepped up to FP/SAL PRD were extracted retrospectively at baseline and follow-up (between 3 and 6 months after stepping up to FP/SAL PRD). The primary endpoint was the percentage of patients with improvement in asthma control assessed via the Asthma Control Test (ACT).

Weekend Backpack Program Tailored for Ethnic and Dietary Food Preferences: Nutrition Quality, Program Usage, and Parent Satisfaction.

Objective: We documented the nutritional quality of a weekend food backpack program with 5 bag types tailored for ethnic food preferences and reported participants' satisfaction and usage of the program.

Methods: The Healthy Eating Index-2020 scores were calculated to assess the quality of the food items by bag type. We also recruited 49 caregivers of elementary school-aged children in Minnesota using multilingual flyers from December, 2022 to May, 2023.

The natural history of neurolymphomatosis.

Background: Neurolymphomatosis is a lymphoid malignancy of the peripheral nervous system and its natural history is poorly understood.

Methods: We performed PubMed search and extracted clinical data for Kaplan-Meier statistics to determine outcome parameters over time. Kruskal-Wallis test was performed to compare prognostic factors.

A deep learning model for prediction of autism status using whole-exome sequencing data.

Autism is a developmental disability. Research demonstrated that children with autism benefit from early diagnosis and early intervention. Genetic factors are considered major contributors to the development of autism.