Cutaneous mastocytosis in a child with a de novo GNB1 mutation.

In the last few years, de novo mutations in the GNB1 gene have been found to cause a neurodevelopmental disorder typically characterized by global developmental delay and hypotonia. Only 4 cases of maculopapular cutaneous mastocytosis in children with GNB1 mutations have been reported to date. Here, we describe another case of the condition with concomitant cutaneous mastocytosis.

Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation.

Inherited noncoding genetic variants confer significant disease susceptibility to childhood acute lymphoblastic leukemia (ALL) but the molecular processes linking germline polymorphisms with somatic lesions in this cancer are poorly understood. Through targeted sequencing in 5,008 patients, we identified a key regulatory germline variant in GATA3 associated with Philadelphia chromosome-like ALL (Ph-like ALL). Using CRISPR-Cas9 editing and samples from patients with Ph-like ALL, we showed that this variant activated a strong enhancer that upregulated GATA3 transcription.

Postpartum Length of Stay and Hospital Readmission Before and During the Coronavirus Disease 2019 (COVID-19) Pandemic.

Objective: To compare postpartum hospitalization length of stay (LOS) and hospital readmission among obstetric patients before (March 2017-February 2020; prepandemic) and during the coronavirus disease 2019 (COVID-19) pandemic (March 2020-February 2021).

Methods: We conducted a retrospective cohort study, using Epic Systems' Cosmos research platform, of obstetric patients who delivered between March 1, 2017, and February 28, 2021, at 20-44 weeks of gestation and were discharged within 7 days of delivery. The primary outcome was short postpartum hospitalization LOS (less than two midnights for vaginal births and less than three midnights for cesarean births) and secondary outcome was hospital readmission within 6 weeks of postpartum hospitalization discharge.

Care Management Intervention to Address Determinants of Health for Individuals With Multiple Behavioral Health Readmission.

Purpose Of Study: To examine the effectiveness of a care management intervention to decrease readmissions and to better understand clinical and social determinants associated with readmission.

Primary Practice Setting: Inpatient mental health (MH) and substance use disorder (SUD) facilities, nonhospital SUD withdrawal management and rehabilitation facilities.

Methodology And Sample: The authors identified 3,950 Medicaid-enrolled individuals who received the intervention from licensed clinical staff of a behavioral health managed care organization; 2,182 individuals were eligible but did not receive the intervention, for treatment as usual (TAU).

Association of Genetic Ancestry With the Molecular Subtypes and Prognosis of Childhood Acute Lymphoblastic Leukemia.

Importance: Racial and ethnic disparities persist in the incidence and treatment outcomes of childhood acute lymphoblastic leukemia (ALL). However, there is a paucity of data describing the genetic basis of these disparities, especially in association with modern ALL molecular taxonomy and in the context of contemporary treatment regimens.

Objective: To evaluate the association of genetic ancestry with childhood ALL molecular subtypes and outcomes of modern ALL therapy.

Temperature Trajectory Sub-phenotypes and the Immuno-Inflammatory Response in Pediatric Sepsis.

Objective: Heterogeneity has hampered sepsis trials, and sub-phenotyping may assist with enrichment strategies. However, biomarker-based strategies are difficult to operationalize. Four sub-phenotypes defined by distinct temperature trajectories in the first 72 h have been reported in adult sepsis.

Fetoscopic insufflation of heated-humidified carbon dioxide during simulated spina bifida repair is safe under controlled anesthesia in the fetal lamb.

Objective: To assess the safety of Partial-Amniotic-Insufflation-of-heated-humidified-CO (hPACI) during fetoscopic spina bifida repair (fSB-repair).

Method: A simulated fSB-repair through an exteriorized uterus under hPACI was performed in 100-day fetal lambs (term = 145 days) under a laboratory anesthesia protocol (n = 5; group 1) which is known to induce maternal-fetal acidosis and hypercapnia. Since these may not occur clinically, we applied a clinical anesthesia protocol (n = 5; group 2), keeping maternal parameters within physiological conditions, that is, controlled maternal arterial carbon dioxide (CO2) pressure (pCO  = 30 mmHg), blood pressure (≥67 mmHg), and temperature (37.

Scaling and Disseminating Brief Bullying Prevention Programming: Strengths, Challenges, & Considerations.

Peer bullying occurs frequently among middle school youth, negatively impacting students and the broader school climate. However, during these years there is a gap in translating empirically supported prevention science into school-based practices. This paper describes how the evidence-based Free2B bullying prevention multi-media assembly was disseminated by a team of educators, researchers, and technologists to over 14,000 students in 40 middle schools across the state.

Executive Summary of Recommendations and Expert Consensus for Plasma and Platelet Transfusion Practice in Critically Ill Children: From the Transfusion and Anemia EXpertise Initiative-Control/Avoidance of Bleeding (TAXI-CAB).

Objectives: Critically ill children frequently receive plasma and platelet transfusions. We sought to determine evidence-based recommendations, and when evidence was insufficient, we developed expert-based consensus statements about decision-making for plasma and platelet transfusions in critically ill pediatric patients.

Design: Systematic review and consensus conference series involving multidisciplinary international experts in hemostasis, and plasma/platelet transfusion in critically ill infants and children (Transfusion and Anemia EXpertise Initiative-Control/Avoidance of Bleeding [TAXI-CAB]).

Plasma and Platelet Transfusion Strategies in Critically Ill Children Following Noncardiac Surgery and Critically Ill Children Undergoing Invasive Procedures Outside the Operating Room: From the Transfusion and Anemia EXpertise Initiative-Control/Avoidance of Bleeding.

Objectives: To present consensus statements and supporting literature for plasma and platelet transfusions in critically ill children following noncardiac surgery and critically ill children undergoing invasive procedures outside the operating room from the Transfusion and Anemia EXpertise Initiative - Control/Avoidance of Bleeding.

Design: Systematic review and consensus conference of international, multidisciplinary experts in platelet and plasma transfusion management of critically ill children.

Setting: Not applicable.

Plasma and Platelet Transfusion Strategies in Critically Ill Children With Malignancy, Acute Liver Failure and/or Liver Transplantation, or Sepsis: From the Transfusion and Anemia EXpertise Initiative-Control/Avoidance of Bleeding.

Objectives: To present the consensus statements with supporting literature for plasma and platelet transfusions in critically ill neonates and children with malignancy, acute liver disease and/or following liver transplantation, and sepsis and/or disseminated intravascular coagulation from the Transfusion and Anemia EXpertise Initiative-Control/Avoidance of Bleeding.

Design: Systematic review and consensus conference of international, multidisciplinary experts in platelet and plasma transfusion management of critically ill children.

Setting: Not applicable.

Personalized communication with parents of children born at less than 25 weeks: Moving from doctor-driven to parent-personalized discussions.

Communication with parents is an essential component of neonatal care. For extremely preterm infants born at less than 25 weeks, this process is complicated by the substantial risk of mortality or major morbidity. For some babies with specific prognostic factors, the majority die.

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the gene was identified as the causative mutation of FOP in 2006.

An ACVR1 pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.

Genetic variants are vital in informing clinical phenotypes, aiding physical diagnosis, guiding genetic counseling, understanding the molecular basis of disease, and potentially stimulating drug development. Here we describe two families with an ultrarare ACVR1 gain-of-function pathogenic variant (codon 375, Arginine > Proline; ACVR1 ) responsible for a mild nonclassic fibrodysplasia ossificans progressiva (FOP) phenotype. Both families include people with the ultrarare ACVR1 variant who exhibit features of FOP while other individuals currently do not express any clinical signs of FOP.

Surgical Interventions During End-of-Life Hospitalizations in Children's Hospitals.

Objectives: To characterize patterns of surgery among pediatric patients during terminal hospitalizations in children's hospitals.

Methods: We reviewed patients ≤20 years of age who died among 4 424 886 hospitalizations from January 2013-December 2019 within 49 US children's hospitals in the Pediatric Health Information System database. Surgical procedures, identified by International Classification of Diseases procedure codes, were classified by type and purpose.

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Cornelia de Lange syndrome (CdLS) is a rare multiorgan developmental disorder caused by pathogenic variants in cohesin genes. It is a genetically and clinically heterogeneous dominant (both autosomal and X-linked) rare disease. Increasing experimental evidence indicates that CdLS is caused by a combination of factors, such as gene expression dysregulation, accumulation of cellular damage and cellular aging, which collectively contribute to the CdLS phenotype.

Patch Test-Directed Dietary Avoidance in the Management of Irritable Bowel Syndrome.

This study investigated the utility of skin patch testing to identify delayed-type food hypersensitivities that trigger irritable bowel syndrome (IBS) symptoms. Using an extensive panel of type IV food allergens, patch testing was performed on individuals with IBS symptoms, after which patch test-directed avoidance diets were implemented in those patients with patch test reactions. All patients placed on avoidance diets were invited to participate in a questionnaire-based study assessing IBS symptom response to the diet.

Outcomes in adolescent and young adult patients (16 to 30 years) compared to younger patients treated for high-risk B-lymphoblastic leukemia: report from Children's Oncology Group Study AALL0232.

Adolescent and young adult (AYA) patients 16-30 years old with high-risk acute lymphoblastic leukemia (HR-ALL) have inferior outcomes compared to younger HR-ALL patients. AALL0232 was a Phase 3 randomized Children's Oncology Group trial for newly diagnosed HR B-ALL (1-30 years). Between 2004 and 2011, 3154 patients enrolled with 3040 eligible and evaluable for induction.

The Impact of Trainee and Standardized Patient Race and Gender on Internal Medicine Resident Communication Assessment Scores.

Background: Standardized patient (SP) encounters are commonly used to assess communication skills in medical training. The impact of SP and resident demographics on the standardized communication ratings in residents has not been evaluated.

Objective: To examine the impact of gender and race on SP assessments of internal medicine (IM) residents' communication skills during postgraduate year (PGY) 1.