Shared decision-making in FPIES.

Food protein induced enterocolitis syndrome (FPIES) is a non IgE-mediated food allergy presenting with profuse vomiting, lethargy and potential progression to severe dehydration and hypotension. Delayed-onset bloody diarrhea may also be a feature, though generally in neonates. FPIES can be misdiagnosed due to non-specific symptoms and the fact that there is no laboratory test specific for the disease.

Unplanned reinterventions after congenital cardiac surgery and hospital mortality: a report from the Pediatric Cardiac Critical Care Consortium (PC).

Objectives: Unplanned cardiac reinterventions (UCR) after congenital cardiac surgery may complicate the post-operative course. We sought to identify incidence rates and risk factors for UCRs and associations between UCRs and hospital mortality.

Methods: Patients in the Pediatric Cardiac Critical Care Consortium (PC) registry undergoing an index cardiac operation from February 2019 to January 2022 were included.

Many Pediatric Subspecialty Fellows Are Not Ready to Graduate From Fellowship in 2 Years.

Background And Objectives: The American Board of Pediatrics requires that proposed changes to the duration of pediatric subspecialty training must include a framework for competency assessment with a measurement component. We analyzed the clinical Entrustable Professional Activity (EPA) level of supervision ratings across 3-year pediatric fellowships to determine if trainees met the minimum thresholds for graduation after 2 years of fellowship training.

Methods: From spring 2019 through spring 2022, Clinical Competency Committees (CCCs) reported fellow supervision level ratings for all clinical EPAs, fellowship program directors (FPDs) assessed the scholarship EPA supervision level, and fellows self-reported their required level of supervision for all EPAs.

Investigation of dynamic regulation of TFEB nuclear shuttling by microfluidics and quantitative modelling.

Transcription Factor EB (TFEB) controls lysosomal biogenesis and autophagy in response to nutritional status and other stress factors. Although its regulation by nuclear translocation is known to involve a complex network of well-studied regulatory processes, the precise contribution of each of these mechanisms is unclear. Using microfluidics technology and real-time imaging coupled with mathematical modelling, we explored the dynamic regulation of TFEB under different conditions.

Management of the patent ductus arteriosus among infants born at 23 to 32 weeks' gestation between 2011 to 2022: a report from in the Children's Hospitals Neonatal Consortium.

Objective: This study reports on patent ductus arteriosus (PDA) therapy trends across the Children's Hospital Neonatal Consortium.

Study Design: We performed a 12-year (2011-2022) retrospective study of premature infants (< 33 weeks) with a PDA. We utilized descriptive statistics to compare demographic, inpatient, and discharge characteristics in 3-year epochs.

Superior preclinical efficacy of co-treatment with BRG1/BRM and FLT3 inhibitor against AML cells with FLT3 mutations.

Although treatment with standard frontline therapies, including a FLT3 inhibitor (FLT3i) reduces AML burden and achieves clinical remissions, most patients with AML with FLT3 mutation relapse due to therapy-resistant stem/progenitor cells. The core ATPases, BRG1 (SMARCA4) and BRM (SMARCA2) of the canonical (c) BAF (BRG1/BRM-associated factor) complex is a dependency in AML cells, including those harboring FLT3 mutations. We have previously reported that treatment with FHD-286, a BRG1/BRM ATPases inhibitor, induces differentiation and loss of viability of AML stem/progenitor cells.

Co-Occurrence of and Fusion in a Patient with Relapsed Acute B Lymphoblastic Leukemia.

B-cell acute lymphoblastic leukemias (B-ALLs) harbor recurrent chromosomal aberrations associated with prognostic and therapeutic significance. Although these major driver genetic abnormalities are generally mutually exclusive, they are rarely reported to co-occur. Here, we present the case of a child with B-ALL who suffered two relapses with short event-free intervals.

Evaluating the Global Consensus on Keratoconus and Ectatic Diseases Agreements Reached on Subclinical Keratoconus.

Purpose: To evaluate the consensus agreements reached in the Global Consensus on Keratoconus and Ectatic Diseases project for subclinical keratoconus, specifically that posterior corneal elevation abnormalities must be present to diagnose mild or subclinical keratoconus.

Design: Literature Review METHODS: Database review (PubMed) was performed on January 2, 2024, to identify studies evaluating the ability of posterior corneal surface metrics to identify subclinical keratoconus using the following search terms: posterior corneal elevation; keratoconus screening; corneal ectasia; subclinical keratoconus; keratoconus suspect; and asymmetric keratoconus. Articles were included for final analysis if they evaluated the ability of the posterior corneal surface to identify subclinical keratoconus compared to anterior corneal surface and/or thickness metrics and reported area under the receiver operating curve (AUROC) data for multiple variables to allow for metric comparison.

Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.

Genome-wide association studies have been remarkably successful in identifying genetic variants associated with age-related macular degeneration (AMD), demonstrating a strong genetic component largely driven by common variants. However, progress in translating these genetic findings into a deeper understanding of disease mechanisms and new therapies has been slow. Slow progress in this area can be attributed to limited knowledge of the functional impact of AMD-associated non-coding variants on gene function, the molecular mechanisms and cell types underlying disease.

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.

The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins.

Understanding depression and anxiety symptom interrelations in Indonesian OCD patients: A network approach.

Obsessive-compulsive disorder (OCD) patients often experience co-occurring symptoms of depression and anxiety, underscoring the needs for targeted clinical interventions that address overlapping symptoms. Network analysis offers a method to examine the symptom interrelations and identify key symptoms for OCD patients interventions. This study collected self-report data on depression (PHQ-9) and anxiety (GAD-7) on OCD-diagnosed outpatients from a clinical psychology clinic in Jakarta, Indonesia (N = 232).

Cost-effectiveness of shared decision-making in determining challenge setting for nonsevere food protein-induced enterocolitis syndrome.

Background: Food protein-induced enterocolitis syndrome (FPIES) affects approximately 0.5% of US children. Oral food challenges (OFCs) are frequently conducted to assess FPIES resolution in an observed setting, given the risk of severe reactions.

The Alpha to Omega of Dialysis Access: Evaluation, Interventions, Innovations (Part 2).

End-stage kidney disease (ESKD) is a growing global health concern, significantly impacting patient morbidity and mortality, particularly among patients on hemodialysis. Vascular access remains a major challenge, often limiting the effectiveness of hemodialysis and requiring strategic planning to optimize outcomes. This review examines the current evidence on vascular access for dialysis, with a focus on pre- and post-operative assessments, necessary interventions for complications, and innovations in vascular access materials and techniques.

Preoperative brain volume loss is associated with postoperative delirium in advanced heart failure patients supported by left ventricular assist device.

Delirium is a common neurological complication in patients with advanced heart failure (ADHF) following left ventricular assist device (LVAD) implantation, significantly impacting recovery. This study aimed to analyze non-contrast computed tomography (CT) scans of the brain in ADHF patients undergoing LVAD implantation to determine the association between pre-existing brain atrophy and postoperative delirium. A study involving 166 ADHF patients was conducted from March 2020 to July 2023.

Diagnostic Test Accuracy of Pedal Acceleration Time to Identify Peripheral Artery Disease.

Objective: Pedal acceleration time (PAT) is a novel method of using diagnostic ultrasound to evaluate the haemodynamic characteristics of pedal arteries and has potential as an adjunct vascular testing method. The primary objective of this study was to assess the diagnostic accuracy of PAT in identifying peripheral artery disease (PAD) in a population with clinically suspected PAD.

Methods: This was a multicentre cross sectional study to estimate the diagnostic test accuracy.

Core domain set for chronic and/or recurrent manifestations of calcium pyrophosphate deposition disease: OMERACT delphi survey to establish consensus.

Objective: To agree on important domains for the Outcome Measures in Rheumatology (OMERACT) core domain set for chronic and/or recurrent manifestations of calcium pyrophosphate deposition (CPPD) disease.

Methods: Patient research partners (PRPs) and other participants (mainly clinicians and researchers) contributed to three rounds of a consensus survey using Delphi methodology. Consensus was defined if ≥70% of both patients and other participants scored the domain as 'critically important domain to include'.

Advanced practice providers in pediatric neurosurgery: a single-institution analysis of clinical and surgical productivity.

Objective: Advanced practice providers (APPs) have experienced remarkable growth in surgical fields, collaborating closely with surgeons to optimize patient care. Although several specialties have evaluated the roles and safety of APPs in team-based care models, few studies have explored their impact on clinical and surgical productivity, especially in pediatric settings. This study aimed to evaluate the influence of enhanced APP utilization within the division of neurosurgery at a leading academic pediatric institution in the United States.

Toward non-invasive assessment of myocardial work using myocardial stiffness and strain: a human pilot study.

Background: Myocardial work assessment has emerged as a promising tool for left ventricular (LV) performance evaluation. Existing non-invasive methods for assessing it rely on assumptions on LV pressure and geometry. Recently, shear wave elastography allowed to quantify changes in myocardial stiffness throughout the cardiac cycle.

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.

BackgroundPrior studies examined variants within presenilin-2 (), presenilin-1 (), and amyloid precursor protein () genes. However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer's Disease Sequencing Project (ADSP).ObjectiveTo characterize previously-reported clinically-relevant variants and DM variants in within the participants from the ADSP.

Failure to Close: An Unexpected Surgical Complication Reveals OTULIN Haploinsufficiency.

Objective: The aim of this report is to raise awareness of a rare inborn error of immunity (IEI) that can predispose to inflammatory disease and infection risk by describing a patient case.

Methods: We reviewed clinical findings, laboratory and pathology evaluations, and genetic results.

Results: A 13-year-old female patient with a history of prematurity and spastic diplegic cerebral palsy underwent planned orthopedic procedures to correct chronic gait abnormalities.

Strengthening essential emergency departments: Transforming the safety net.

Safety-net emergency departments (EDs) are a critical component of the US health care system, delivering emergency care for patients in need, including vulnerable populations. EDs provide unscheduled acute care for patients 24 hours a day, 7 days a week, regardless of a person's ability to pay. In addition, EDs have transformed beyond their traditional roles of providing emergency services and being the centers for regionalized trauma, cardiac, and stroke care, to also becoming stewards of public health by leading screening and treatment efforts for nonemergent conditions, such as HIV, hepatitis C, mental health, and opioid use disorder.

Relationship between parental distress and proxy symptom reports in pediatric palliative care.

Context: In pediatric palliative care (PPC), patients often are not able to report symptoms so proxy reports from parents are used. Whether psychological distress in the proxies affects reports of patients' symptoms is unknown.

Objective: To measure the influence of parents' distress on proxy-reported scores regarding symptoms by analyzing pairs of parents reporting on the same child.