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.

LiaR-dependent gene expression contributes to antimicrobial responses in group A .

The ability to sense and respond to host defenses is essential for pathogen survival. Some mechanisms involve two-component systems (TCSs) that respond to host molecules, such as antimicrobial peptides (AMPs), and activate specific gene regulatory pathways to aid in survival. Alongside TCSs, bacteria coordinate cell division proteins, chaperones, cell wall sortases, and secretory translocons at discrete locations within the cytoplasmic membrane, referred to as functional membrane microdomains (FMMs).

Work Where You Live or Live Where You Work? Resident Work and Sleep Patterns While on "Home Call".

Background: Unlike in-house call, the Accreditation Council for Graduate Medical Education (ACGME) does not require a postcall day for "home call" shifts. Despite this, we hypothesize that on-call residents are still in the hospital for the majority of their shift despite having the luxury of home call and, thus, are not protected by ACGME postcall duty hour regulations.

Methods: A prospective single center survey study was conducted by surveying junior and senior residents who completed overnight call shifts from January 2023 to April 2023 at one of the busiest level 1 trauma centers in the United States.

Sex differences in metabolic adaptation in infants with cyanotic congenital heart disease.

Background: Female infants with congenital heart disease (CHD) face significantly higher postoperative mortality rates after adjusting for cardiac complexity. Sex differences in metabolic adaptation to cardiac stressors may be an early contributor to cardiac dysfunction. In adult diseases, hypoxic/ischemic cardiomyocytes undergo a cardioprotective metabolic shift from oxidative phosphorylation to glycolysis which appears to be regulated in a sexually dimorphic manner.

Fetal lower urinary tract obstruction: international Delphi consensus on management and core outcome set.

Objectives: To reach an international expert consensus on the diagnosis, prognosis and management of fetal lower urinary tract obstruction (LUTO) by means of a Delphi procedure, and to use this to define a core outcome set (COS).

Methods: A three-round Delphi procedure was conducted among an international panel of experts in fetal LUTO. The panel was provided with a list of literature-based parameters to consider for the diagnosis, prognosis, management and outcomes of LUTO.

Increasing Incidence of Streptococcus anginosus Group Intracranial Infections Associated With Sinusitis, Otitis Media, and Mastoiditis in Children.

Background: The Streptococcus anginosus group (SAG) pathogens have the potential to cause head and neck space infections, including intracranial abscesses. Several centers noted an increase in intracranial abscesses in children during the SARS-CoV-2 pandemic, prompting a Centers for Disease Control and Prevention health alert in May 2022. We examined the epidemiology of pediatric intracranial abscesses at a tertiary care center with a focus on SAG pre- and post-pandemic.

Reducing Postoperative CT Imaging for Children With Complicated Appendicitis: A Pediatric Surgical Quality Collaborative Quality Improvement Project.

Background: Despite widespread initiatives to reduce ionizing radiation for appendicitis diagnosis, computed tomography (CT) scanning postoperatively remains common. The Pediatric Surgery Quality Collaborative (PSQC) aimed to identify differences between children's hospitals with high and low postoperative CT usage for complicated appendicitis.

Methods: Using National Surgery Quality Improvement Program Pediatric data from PSQC children's hospitals, we compared postoperative CT imaging for complicated appendicitis (April 2020-March 2021).

Comparison of two formulations of intravenous lipid emulsions in pediatric intestinal failure.

Purpose: The effect of different types of lipid emulsion may guide therapy of patients with intestinal failure (IF) to limit morbidity such as intestinal failure-associated liver disease (IFALD).

Methods: A retrospective chart review of pediatric patients with IF who received soybean oil lipid emulsion (SL) or mixed oil lipid emulsion (ML) was performed. Data over 1 year were collected.

Recurrent Nontraumatic Subgaleal Hematomas in a Pediatric Patient With Sickle Cell Disease.

Spontaneous subgaleal hematoma in pediatric patients with sickle cell disease (SCD) is a rare occurrence that can present with symptoms mimicking ischemic stroke, a known complication of SCD. However, unlike ischemic stroke, subgaleal hematoma is nonlethal and can be managed conservatively without major sequelae. Here, we present the case of an adolescent with SCD who presented with 2 episodes of subgaleal and epidural hematomas, 2 years apart.

Oxygen saturation thresholds in managing sickle cell disease at US children's hospitals.

Background: Adequate oxygen saturation (SpO ) is crucial for managing sickle cell disease (SCD). Children with SCD are at increased risk for occult hypoxemia; therefore, understanding SpO threshold practices would help identify barriers to oxygen optimization in a population sensitive to oxyhemoglobin imbalances. We investigated SpO cutoff levels used in clinical algorithms for management of acute SCD events at children's hospitals across the United States, and determined their consistency with recommended national guidelines (SpO  > 95%).

Invasive Group A Streptococcus in Infants Less Than 1-year of Age From 2012 to 2022: A Single-Center Experience.

The incidence of invasive Group A Streptococcus (iGAS) has varied throughout the COVID-19 pandemic. We reviewed iGAS infections in infants ≤1 year from 2012 to 2022. Twenty-five percent of cases occurred in the last quarter of 2022.

Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan.

Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted lack of genetic counselors and geneticists. To meet the needs of the patient population, the responsibility of providing clinical genetic services falls on general and specialty physicians. However, their education regarding these essential services is not standardized in medical school curricula nor has it ever been evaluated.

Disability education and implications for genetic counselor training.

The genetic counseling (GC) community has faced criticism about the duality of promoting patient autonomy while also advocating for individuals with disabilities. This study assessed the attitudes of the disability community and GCs to identify content that should be included in GC disability education and evaluate the landscape of GC disability education. Members of the disability community and GCs completed an electronic survey distributed through electronic listservs and partnering organizations.

Outcomes of Extracorporeal Life Support Utilization for Pediatric Patients With COVID-19 Infections.

Outcomes of pediatric patients who received extracorporeal life support (ECLS) for COVID-19 remain poorly described. The aim of this multi-institutional retrospective observational study was to evaluate these outcomes and assess for prognostic factors associated with in-hospital mortality. Seventy-nine patients at 14 pediatric centers across the United States who received ECLS support for COVID-19 infections between January 2020 and July 2022 were included for analysis.

Dermatological concerns for women and girls with turner syndrome.

Introduction: Turner syndrome (TS) is associated with distinct manifestations in women and girls including short stature, cardiac abnormalities, premature ovarian failure as well as dermatological features, including lymphedema, keloids, onychodystrophy, and acne. Although many dermatological concerns present during the first few decades of life, the overwhelming majority of respondents are not provided with dermatology referrals at diagnosis.

Methods: This cross-sectional study utilized an author designed survey to assess self-reported dermatological manifestations, dermatology referral experience, common therapies for select dermatological conditions, as well as a validated 10-question Dermatology Life Quality Index (DLQI) to assess quality-of-life impact in women and girls with Turner syndrome.

Pulmonary outcomes of congenital diaphragmatic hernia patients based on defect size (CDH Study Group Stage).

Background: Congenital diaphragmatic hernia (CDH) is associated with significant pulmonary morbidity. Previous investigation has shown that postnatal inpatient morbidity is linked to diaphragmatic defect size. The objective of this study was to evaluate long-term pulmonary outcomes by CDH study group defect size.

It's Hip to Go Home: An Evaluation of Outpatient Alveolar Bone Grafting in Patients With Cleft Palate.

Introduction: Secondary alveolar bone grafting (ABG) is a common procedure performed at cleft care centers used to fill the alveolar cleft. The advent of techniques such as minimally invasive trephine drill harvest and placement of continuous-infusion pain pumps at the donor site has made outpatient ABG an increasingly feasible and cost-effective procedure. However, enhanced recovery after surgery protocols to maximize pain control and recovery times for this patient population have not been well established.