Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.

Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.

Identifying Factors that Influence Pediatric Echo Lab Image Quality: Development and Validation of a New Assessment Tool.

No method of evaluating transthoracic echocardiograms (TTE) image quality (IQ) has been validated. Furthermore, structural echo lab elements impacting IQ are unknown. We sought to develop and validate a TTE IQ grading tool and determine patient and echo lab features associated with IQ.

Pediatric T-lymphoblastic Leukemia With an Entirely Mature Immunophenotype: A Prompt and Challenging Diagnosis.

Children with T-ALL/LBL require prompt diagnosis and treatment. Flow cytometric analysis of T-lineage and immaturity markers usually leads to a straightforward diagnosis. However, rare cases of T-ALL expressing bright CD45 and lacking expression of immature markers can be a diagnostic conundrum and difficult to differentiate from mature T-cell lymphomas lacking surface CD3 expression or aberrantly expressing immature markers, which affects treatment decisions and prognosis.

Describing trauma patient characteristics and care provided at a referral hospital in Mwanza, Tanzania: a prospective cross-sectional study.

Background: Over 90% of trauma deaths occur in low- and middle-income countries (LMICs). The trauma burden in Tanzania is similar to the global rate of 10% and road traffic injuries result in a 40% mortality. To understand epidemiology of trauma referrals and care we aimed to describe the patients presenting to a tertiary, referral hospital in Tanzania for trauma care, their injuries and mechanism of injury, and describe the care received.

Prenatal Spina Bifida Repair: A Survey of Current Practice in the United States.

Background: Prenatal myelomeningocele (MMC) repair offers significant benefits over traditional postnatal repair, as demonstrated by the Management of Myelomeningocele Study trial. We characterize the current specialist involvement in prenatal and postnatal MMC repair.

Methods: The top 50 US News Children's Hospitals for Neonatology and Neurology/Neurosurgery were queried, resulting in 67 unique hospitals.

Rhabdoid Tumor of the Kidney and Soft Tissues: Results from National Wilms Tumor Study-5 and Children's Oncology Group Study AREN0321.

Purpose: National Wilms Tumor Study-5 (NWTS-5) and AREN0321 evaluated the outcomes of children with rhabdoid tumor of the kidney (RTK) and malignant rhabdoid tumor of soft tissues (MRT).

Patients And Methods: Eligible patients with RTK were enrolled prospectively on NWTS-5 (1995-2002) and treated with carboplatin and etoposide alternating with cyclophosphamide (Regimen RTK). Patients with RTK or MRT were enrolled on AREN0321 (2005-2012) and received vincristine, doxorubicin, and cyclophosphamide alternating with carboplatin, cyclophosphamide, and etoposide (Regimens UH-1 or dose-reduced Revised UH-1).

Predicting Auditory Skill Outcomes After Pediatric Cochlear Implantation Using Preoperative Brain Imaging.

Purpose: Our study used preoperative neuroanatomical features to predict auditory development in Chinese-learning children with cochlear implants (CIs).

Method: T1-weighted whole-brain magnetic resonance imaging (MRI) scans were obtained from 17 Chinese-learning pediatric CI candidates (12 females and five males, age at MRI = 23.0 ± 15.

Updates on neurologic manifestations of mitochondrial disease.

Purpose Of Review: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

Background: Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication. MoCD may present in a clinically severe, fatal form marked by intractable seizures after birth, hyperekplexia, microcephaly and cerebral atrophy, or a later onset form with a more varied clinical course. Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) and type C (GPHN).

Machine Learning-Based Prediction Model for ICU Mortality After Continuous Renal Replacement Therapy Initiation in Children.

Background: Continuous renal replacement therapy (CRRT) is the favored renal replacement therapy in critically ill patients. Predicting clinical outcomes for CRRT patients is difficult due to population heterogeneity, varying clinical practices, and limited sample sizes.

Objective: We aimed to predict survival to ICUs and hospital discharge in children and young adults receiving CRRT using machine learning (ML) techniques.

Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management.

Purpose: To review biotinidase gene (BTD) variants identified in a large, diverse, reproductive carrier screening (RCS) cohort and outline management of heterozygotes with pathogenic or likely pathogenic (P/LP) variants.

Methods: This retrospective observational study included samples tested from January 2020 to September 2022 in a 274-gene panel. The study involved females aged 18 to 55 years.

Imaging Findings and Management Strategies for Liver Masses in Children with Predisposition Disorders: A Review by the Pediatric LI-RADS Group.

Liver masses in children with underlying systemic disease or a predisposing syndrome can be benign or malignant, ranging from focal fat to hepatocellular carcinoma (HCC). Knowledge of the underlying condition, the pathophysiologic effect on the liver, and the development of liver disease and specific liver lesions allows radiologists to guide imaging with regard to modality and frequency and give recommendations for biopsy when appropriate. In some predisposition disorders, such as Beckwith Wiedemann spectrum, familial adenomatous polyposis syndrome, and tuberous sclerosis complex, established guidelines for imaging screening exist.

The Role of "The Talk" and Its Themes in Black Youths' Anticipatory Stress of Police Brutality.

Background And Objectives: Research on conversations between caregivers and their children about how to prepare or conduct themselves when stopped by police (ie, "the talk") has grown in recent years. However, little is known about how having "the talk" may influence youths' stress about future experiences of police brutality (ie, anticipatory stress of police brutality). The objective of the present study is to examine how youths' anticipatory stress regarding police brutality varies by whether they have had "the talk" with their caregivers.

Understanding and addressing mental health challenges of families admitted to the neonatal intensive care unit.

This article reviews the psychological distress experienced by NICU families, including anxiety, postpartum depression (PPD), and post-traumatic stress disorder (PTSD), in addition to providing recommendations for clinicians at the individual, institutional, and national level. Currently, mental health screenings, specialized evaluations, and treatment options are not routinely offered to NICU families and are frequently under-utilized when offered. Here we provide expert opinion recommendations to address challenges in supporting universal screening, offering bedside interventions, including trained mental health professionals in care plans, updating neonatology training competencies, and advocating for policies that support the mental health of NICU families.

The development and implementation of a preventive integrated behavioral health program in two academic pediatric continuity clinics.

The American: Academy of Pediatrics advocates for a preventive approach to children's mental health (MH) care and pediatric primary care providers (PCPs) are in a unique position to promote the emotional health of their patients, integrate systems for screening and assessment of MH conditions and provide MH intervention and ongoing clinical follow-up. Integration of a behavioral health service into pediatric primary care has the potential to increase the clinical confidence and MH competency of PCPs and improve patient health outcomes through increased access to and delivery of quality MH care in the primary care setting.

Method: This article describes the step-by-step process of developing and implementing a custom integrated behavioral health (IBH) program into two different academic pediatric primary care clinics located in New York, NY and Chicago, IL.

Unlocking success: community engagement for enhanced HIV care outcomes.

Background: Though social determinants are the primary drivers of health, few studies of people living with HIV focus on non-clinical correlates of insecure and/or fragmented connections with the care system. Our team uses linked clinical and multisector non-clinical data to study how residential mobility and connection to social services influence the HIV care continuum. We engage a diverse group of individuals living with HIV and other invested community members to guide and inform this research.

Tcf21 as a founder transcription factor in specifying Foxd1 cells to the juxtaglomerular cell lineage.

Renin is crucial for blood pressure regulation and electrolyte balance, and its expressing cells arise from Forkhead box D1-positive (Foxd1) stromal progenitors. However, factors guiding these progenitors toward renin-secreting cell fate remain unclear. Tcf21, a basic helix-loop-helix (bHLH) transcription factor, is essential in kidney development.

Disparities in Continuous Glucose Monitoring Among Patients Receiving Care in Federally Qualified Health Centers.

Importance: While continuous glucose monitoring (CGM) has been found to improve diabetes care processes and outcomes, adoption remains low.

Objective: To examine the association between CGM prescriptions and individual characteristics among patients with type 1 or 2 diabetes (T1D and T2D, respectively).

Design, Setting, And Participants: Retrospective cross-sectional study using electronic health record data for patients with T1D or T1D from 275 clinic sites nationwide between January 2014 and February 2021.

Postoperative management of pediatric patients undergoing single-stage laryngotracheal reconstruction in the United States: A survey of ASPO members.

Introduction: The postoperative management of single-stage laryngotracheal reconstruction (ssLTR) plays a significant role in the surgery's outcomes. The relatively prolonged period in which the child remains intubated and sedated to allow graft healing may be complicated by pulmonary sequelae, airway obstruction, withdrawal symptoms, and eventually failed extubation. This study aims to assess post-ssLTR practices among pediatric otolaryngologists.