ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies.

Ataxia-telangiectasia (A-T) is an autosomal-recessive disorder caused by pathogenic variants (PVs) of the ATM gene, predisposing children to hematological malignancies. We investigated their characteristics and outcomes to generate data-based treatment recommendations. In this multinational, observational study we report 202 patients aged ≤25 years with A-T and hematological malignancies from 25 countries.

Transcatheter Pulmonary Valve Replacement With the Harmony Valve in Patients Who Do Not Meet Recommended Oversizing Criteria on the Screening Perimeter Plot.

Background: Anatomic selection for Harmony valve implant is determined with the aid of a screening report and perimeter plot (PP) that depicts the perimeter-derived radius along the right ventricular outflow tract (RVOT) and projects device oversizing. The PP provides an estimation of suitability for implant, but its sensitivity as a screening method is unknown. This study was performed to describe anatomic features and outcomes in patients who underwent Harmony TPV25 implant despite a PP that predicted inadequate oversizing.

Geospatial investigations in Colombia reveal variations in the distribution of mood and psychotic disorders.

Background: Geographical variations in mood and psychotic disorders have been found in upper-income countries. We looked for geographic variation in these disorders in Colombia, a middle-income country. We analyzed electronic health records from the Clínica San Juan de Dios Manizales (CSJDM), which provides comprehensive mental healthcare for the one million inhabitants of Caldas.

Right ventricular outflow tract obstruction associated with neointimal tissue accumulation and distortion of the Harmony TPV25 stent frame: Potential mechanisms and treatment.

Background: The Harmony TPV25 transcatheter pulmonary valve (Medtronic Inc.) is constructed with a self-expanding stent frame comprising six zigged nitinol wires sewn together and covered with knitted polyester fabric, with flared inflow and outflow ends and a porcine pericardial valve sutured to the central portion of the device. It was approved for treatment of pulmonary regurgitation after prior right ventricular outflow tract repair in 2021.

Changes in Patterns of Use of Advanced Therapies Following Emerging Data About Adverse Events in Patients With Rheumatoid Arthritis From the Veterans Affairs Health System.

Objective: To determine whether prescribing practices for Janus kinase inhibitors (JAKi), tumor necrosis factor inhibitors (TNFi), and non-TNFi biologic agents changed after the results of the Oral Rheumatoid Arthritis Trial (ORAL) Surveillance trial were released in January 2021.

Methods: This is a retrospective study in adult patients with rheumatoid arthritis (RA) receiving advanced therapies within the Veterans Affairs Health System from January 2012 through September 2022. Eligible patients were required to have at least one diagnosis code for RA and to have received a biologic disease-modifying antirheumatic drug or JAKi.

Unplanned Admissions, Emergency Department Visits, and Epilepsy After Critical Neurological Illness Requiring Prolonged Mechanical Ventilation in Children.

Background And Purpose: Long-term outcomes after pediatric neurocritical illness are poorly characterized. This study aims to characterize the frequency and risk factors for post-discharge unplanned health resource use in a pediatric neurocritical care population using insurance claims data.

Methods: Retrospective cohort study evaluating children who survived a hospitalization for an acute neurologic illness or injury requiring mechanical ventilation for >72 hours and had insurance eligibility in Colorado's All Payers Claims database.

Value of chest CT over skeletal surveys in detection of rib fractures in pediatric patients.

Recent literature has raised concerns about the sensitivity and accuracy of radiographs at diagnosing rib fractures. Studies have shown that chest computed tomography (CT) has far greater sensitivity at detecting rib fractures than radiographs. The purpose of this study was to evaluate the sensitivity of skeletal survey (SS) radiographs at diagnosis of rib fractures compared to CT in the pediatric population.

Genetic and clinical analyses of psychosis spectrum symptoms in a large multiethnic youth cohort reveal significant link with ADHD.

Psychotic symptoms are not only an important feature of severe neuropsychiatric disorders, but are also common in the general population, especially in youth. The genetic etiology of psychosis symptoms in youth remains poorly understood. To characterize genetic risk for psychosis spectrum symptoms (PS), we leverage a community-based multiethnic sample of children and adolescents aged 8-22 years, the Philadelphia Neurodevelopmental Cohort (n = 7225, 20% PS).

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Objective: Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.

Methods: This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years.

Breastfeeding with HIV: An Evidence-Based Case for New Policy.

To help eliminate perinatal HIV transmission, the US Department of Health and Human Services recommends against breastfeeding for women living with HIV, regardless of viral load or combined antiretroviral therapy (cART) status. However, cART radically improves HIV prognosis and virtually eliminates perinatal transmission, and breastfeeding's health benefits are well-established. In this setting, pregnancy is increasing among American women with HIV, and a harm reduction approach to those who breastfeed despite extensive counseling is suggested.

Electronic Cigarettes and Youth in the United States: A Call to Action (at the Local, National and Global Levels).

E-cigarettes have emerged and soared in popularity in the past ten years, making them the most common tobacco product used among youth in the United States (US). In this review, we discuss what the Surgeon General has called a public health "epidemic"-the precipitous increase in youth use of e-cigarettes and the health consequences of this behavior. Further, we review tobacco control policy efforts (e.

What is new in electronic-cigarettes research?

Purpose Of Review: Electronic cigarettes (e-cigarettes) and other vaping devices have seen extraordinary growth in use in the past 10 years, and companies are accelerating their development of new products and marketing efforts. In turn, researchers have increased their efforts to determine how e-cigarettes affect health, how marketing these products impacts adolescents and how the use of e-cigarettes may affect adolescents' use of other tobacco products. Products like Juul were not on the market 2 years ago; thus, frequent updates on the topic are essential.

Research priorities for the discovery of a cure for chronic hepatitis B: Report of a workshop.

In early 2017, the Hepatitis B Foundation invited 30 experts in the fields of hepatitis B and liver cancer research to identify projects they deemed important to the goal of finding a cure for chronic hepatitis B and D and the diseases with which these viral infections are associated. They were also asked to identify general categories of research and to prioritize sub-project topics within those areas. The experts generally agreed on broadly defined areas of research, but there was usually little difference between the highest and lowest scoring projects; for the most part, all programs described in this document were considered valuable and necessary.

Trauma exposure interacts with the genetic risk of bipolar disorder in alcohol misuse of US soldiers.

Objective: To investigate whether trauma exposure moderates the genetic correlation between substance use disorders and psychiatric disorders, we tested whether trauma exposure modifies the association of genetic risks for mental disorders with alcohol misuse and nicotine dependence (ND) symptoms.

Methods: High-resolution polygenic risk scores (PRSs) were calculated for 10 732 US Army soldiers (8346 trauma-exposed and 2386 trauma-unexposed) based on genome-wide association studies of bipolar disorder (BD), major depressive disorder, and schizophrenia.

Results: The main finding was a significant BD PRS-by-trauma interaction with respect to alcohol misuse (P = 6.

Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors.

We previously mapped loci for the genome-wide association studies (GWAS) and genome-wide gene-by-alcohol dependence interaction (GW-GxAD) analyses of risky sexual behaviors (RSB). This study extends those findings by analyzing the ancestry- and sex-specific AD-stratified effects on RSB. We examined the concordance of findings for the AD-stratified GWAS and the GW-GxAD analysis of RSB, with concordance defined as genome-wide significance in one analysis and at least nominal significance in the second analysis.

Baseline prevalence and longitudinal evolution of non-motor symptoms in early Parkinson's disease: the PPMI cohort.

Objective: To examine the baseline prevalence and longitudinal evolution in non-motor symptoms (NMS) in a prospective cohort of, at baseline, patients with de novo Parkinson's disease (PD) compared with healthy controls (HC).

Methods: Parkinson's Progression Markers Initiative (PPMI) is a longitudinal, ongoing, controlled study of de novo PD participants and HC. NMS were rated using the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part I score and other validated NMS scales at baseline and after 2 years.

Central systolic blood pressure and aortic stiffness response to dietary sodium in young and middle-aged adults.

High dietary sodium intake can lead to hypertension and increased incidence of cardiovascular disease. We sought to determine the effect of short-term dietary sodium loading on central blood pressure and arterial stiffness in young (YG; 22-40 years) and middle-aged (MA; 41-60 years) normotensive adults. YG (n = 49; age: 27 ± 1 years) and MA (n = 36; age: 52 ± 1 years) subjects were randomized, in a cross-over design, to 7 days of low-sodium (LS; 20 mmol/d) or high-sodium (HS; 300 mmol/d) diet.

Food Labeling and Consumer Associations with Health, Safety, and Environment.

The food supply is complicated and consumers are increasingly calling for labeling on food to be more informative. In particular, consumers are asking for the labeling of food derived from genetically modified organisms (GMO) based on health, safety, and environmental concerns. At issue is whether the labels that are sought would accurately provide the information desired.

identified in a genome-wide gene × cannabis dependence interaction analysis of risky sexual behaviours.

Background: We conducted a genome-wide gene × environment interaction analysis to identify genetic variants that interact with cannabis dependence (CaD) in influencing risky sexual behaviours (RSB).

Methods: Our sample included cannabis-exposed and sexually experienced African-American and European-American participants. A DSM-IV CaD diagnosis and RSB were evaluated using the Semi-Structured Assessment for Drug Dependence and Alcoholism.

A genome-wide gene-by-trauma interaction study of alcohol misuse in two independent cohorts identifies PRKG1 as a risk locus.

Traumatic life experiences are associated with alcohol use problems, an association that is likely to be moderated by genetic predisposition. To understand these interactions, we conducted a gene-by-environment genome-wide interaction study (GEWIS) of alcohol use problems in two independent samples, the Army STARRS (STARRS, N=16 361) and the Yale-Penn (N=8084) cohorts. Because the two cohorts were assessed using different instruments, we derived separate dimensional alcohol misuse scales and applied a proxy-phenotype study design.

Nasal intermittent positive pressure ventilation (NIPPV) versus nasal continuous positive airway pressure (NCPAP) for preterm neonates after extubation.

Background: Previous randomised trials and meta-analyses have shown that nasal continuous positive airway pressure (NCPAP) is a useful method for providing respiratory support after extubation. However, this treatment sometimes 'fails' in infants, and they may require endotracheal re-intubation with its attendant risks and expense. Nasal intermittent positive pressure ventilation (NIPPV) can augment NCPAP by delivering ventilator breaths via nasal prongs.