The role of heart and neural crest derivatives-expressed protein factors in pregnancy.

Heart and neural crest derivatives-expressed protein 1 (HAND1) and Heart and neural crest derivatives-expressed protein 2 (HAND2), members of the Twist-family of basic Helix-Loop-Helix (bHLH) proteins, act as critical transcription factors that play a key role in various developmental processes, including placental development and fetal growth during pregnancy. This review aims to explore the current understanding of HAND1 and HAND2 in pregnant maintenance and their potential implications for maternal and fetal health. We will summarize the mechanisms of action of HAND1 and HAND2 in pregnancy, their expression regulation and association with pregnancy complications such as preterm birth and preeclampsia.

Distinct Gut Microbiota Profiles in Normal Weight Obesity and Their Association With Cardiometabolic Diseases: Results From Two Independent Cohort Studies.

Background: Normal weight obesity (NWO) is characterized by excess body fat in individuals with normal body mass index (BMI). This study aimed to investigate gut microbiota alterations in NWO and their potential associations with cardiometabolic diseases (CMD) risk in two independent cohorts.

Methods: Our NWO-CMD mortality analysis included 168 099 adults with normal BMI from two large open-access databases, while our NWO-gut microbiota study involved 5467 adults with normal BMI from two independent cohorts: the WELL-China cohort and the Lanxi cohort.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

LDB1 establishes multi-enhancer networks to regulate gene expression.

How specific enhancer-promoter pairing is established remains mostly unclear. Besides the CTCF/cohesin machinery, few nuclear factors have been studied for a direct role in physically connecting regulatory elements. Using a murine erythroid cell model, we show via acute degradation experiments that LDB1 directly and broadly promotes connectivity among regulatory elements.

Topiramate treatment of pediatric metabolic dysfunction-associated steatotic liver disease: A descriptive cohort study.

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a common disease in children. Lifestyle modification is the primary treatment but difficult to achieve and maintain. Topiramate is a component of an approved weight loss medication (topiramate-phentermine) in children aged 12 years and older but is more commonly used as a single agent, off-label, for pediatric obesity.

Real-world effectiveness and causal mediation study of BNT162b2 on long COVID risks in children and adolescents.

Background: The impact of pre-infection vaccination on the risk of long COVID remains unclear in the pediatric population. We aim to assess the effectiveness of BNT162b2 on long COVID risks with various strains of the SARS-CoV-2 virus in children and adolescents, using comparative effectiveness methods. We further explore if such pre-infection vaccination can mitigate the risk of long COVID beyond its established protective benefits against SARS-CoV-2 infection using causal mediation analysis.

Impact of Australia's No Jab, No Pay policy on vaccination uptake - a before-after study in two national birth cohorts.

Background: Data on impact of financial penalties for non-vaccination are sparse. Australia has required full vaccination for government family assistance payment eligibility since 1998. In 2016, the No Jab, No Pay (NJNP) policy removed registered non-medical objection as exemption option and increased eligibility assessment to yearly.

Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.

Optimizing Post-Kasai Management in Biliary Atresia: Balancing Native Liver Survival and Transplant Timing.

Background Kasai procedure (KPE) is a palliative intervention in infants with biliary atresia (BA) aiming to restore biliary drainage. While the measure of success in BA is the post-Kasai native liver survival, BA remains the most frequent indication for liver transplantation in children. While a considerable amount of children fail to clear their jaundice following KPE, resulting in early liver failure and transplantation, some children become jaundice-free after "successful" KPE.

Effective Bone Tissue Fabrication Using 3D-Printed Citrate-Based Nanocomposite Scaffolds Laden with BMP9-Stimulated Human Urine Stem Cells.

Effective repair of large bone defects through bone tissue engineering (BTE) remains an unmet clinical challenge. Successful BTE requires optimal and synergistic interactions among biocompatible scaffolds, osteogenic factors, and osteoprogenitors to form a highly vascularized microenvironment for bone regeneration and osseointegration. We sought to develop a highly effective BTE system by using 3D printed citrate-based mPOC/hydroxyapatite (HA) composites laden with BMP9-stimulated human urine stem cells (USCs).

Long-term outcome of pediatric acute severe colitis: A prospective 5-year follow-up of the PRASCO trial.

Objectives: The PRASCO trial reported the short-term superiority of an antibiotic cocktail plus intravenous corticosteroids (IVCS) over IVCS alone in children with acute severe colitis (ASC). Here, we report the extension of the PRASCO trial and the long-term outcomes of the antibiotic cocktail in ASC.

Methods: This prospective follow-up of the PRASCO trial documented disease outcomes and treatments annually through 5 years.

Selective termination: a life-saving procedure for complicated monochorionic gestations.

Monochorionic twin pregnancies are a subset of twin pregnancies that face potential complications related to a shared circulation between the fetuses. These complications are related to anastomotic placental vessels connecting the cardiovascular systems of the two fetuses, which can result in significant sequela if one twin experiences intrauterine death. The sudden cardiovascular collapse in this scenario leads to a massive blood shift away from the healthy co-twin, significantly jeopardizing its life and long-term neurodevelopmental outcome.

Automated pediatric brain tumor imaging assessment tool from CBTN: Enhancing suprasellar region inclusion and managing limited data with deep learning.

Background: Fully automatic skull-stripping and tumor segmentation are crucial for monitoring pediatric brain tumors (PBT). Current methods, however, often lack generalizability, particularly for rare tumors in the sellar/suprasellar regions and when applied to real-world clinical data in limited data scenarios. To address these challenges, we propose AI-driven techniques for skull-stripping and tumor segmentation.

AI-driven eyelid tumor classification in ocular oncology using proteomic data.

Eyelid tumors pose diagnostic challenges due to their diverse pathological types and limited biopsy materials. This study aimed to develop an artificial intelligence (AI) diagnostic system for accurate classification of eyelid tumors. Utilizing mass spectrometry-based proteomics, we analyzed proteomic data from eight tissue types and identified eighteen novel biomarkers based on 233 formalin-fixed, paraffin-embedded (FFPE) samples from 150 patients.

Letter to the editor in response to Duan X, et al, CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

Duan X, et al, report that CYP4A22 loss-of-function causes a new form of vitamin D-dependent rickets. Here we describe the basis for our rejection of their proposal and provide evidence that the CYP4A22 variant that they have identified (c.901del, p.

Health care transition quadruple aim outcomes for IDD: Scoping review.

Purpose: Structured HCT models addressing planning, transfer, and integration into adult care for adolescents and young adults with childhood-acquired chronic conditions are becoming more prevalent. However, consensus on outcome measures to assess health care transition (HCT) interventions particularly for intellectual and developmental disabilities (IDD) population is lacking. This scoping review identified potential HCT outcome measures for young adults (aged 18-26) with IDD using the Quadruple Aim Framework.

Deriving fontan-specific normative exercise data from well-functioning adolescents.

Background: Exercise capacity is reduced in patients with a Fontan circulation compared to their healthy peers secondary to altered haemodynamics of the Fontan circulation. Cardiopulmonary exercise testing is routinely used in Fontan patients to assess their cardiopulmonary response to exercise and help guide management decisions, however their results are routinely compared to normative data derived from healthy individuals.

Method: Using data available from the Pediatric Heart Network, we performed a retrospective study to derive Fontan-specific normative values in a subgroup of well-functioning adolescent patients.

Assessing severity of pediatric pneumonia using multimodal transformers with multi-task learning.

Objective: While current multimodal approaches in the diagnosis and severity assessment of pneumonia demonstrate remarkable performance, they frequently overlook the issue of modality absence-a common challenge in clinical practice. Thus, we present the (RMT) model, crafted to bridge this gap. The RMT model aims to enhance diagnosis and severity assessment accuracy in situations with incomplete data, thereby ensuring it meets the complex needs of real-world clinical settings.

Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis.

Objective: Early diagnosis and treatment of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) are crucial for a favorable prognosis. Detecting the causative autoantibodies can be challenging. Probable diagnostic criteria are useful in adults less so in children.

Dynamic contrast-enhanced magnetic resonance lymphangiography: a simple algorithm for image interpretation.

Dynamic contrast-enhanced magnetic resonance lymphangiography is a high-resolution imaging technique that has emerged as the preferred method for evaluating lymphatic anatomy and flow dynamics due to its precise anatomical detail. The lymphatic system has a complex anatomical distribution, and variability is common among individuals with cardiac abnormalities, particularly congenital heart disease. Lymphatic imaging has recently been revolutionized by the introduction of MR lymphangiography.

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.

Use of blended feeds in children requiring tube feeding.

Aim: The use of blended tube feeding (BTF) in children is a controversial area with persistent concerns regarding the nutritional adequacy and risk of associated infections and equipment complications. Parents in Australia are electing to use BTF in their children despite local hospital guidelines, calling for further research to support its use.

Methods: A retrospective case-series study was conducted at a tertiary paediatric hospital, to characterise the paediatric population electively using BTF and evaluate their clinical outcomes.

Intracranial multimodal monitoring in neurocritical care (Neurocore-iMMM): an open, decentralized consensus.

Background: Intracranial multimodal monitoring (iMMM) is increasingly used in neurocritical care, but a lack of standardization hinders its evidence-based development. Here, we devised core outcome sets (COS) and reporting guidelines to harmonize iMMM practices and research.

Methods: An open, decentralized, three-round Delphi consensus study involved experts between December 2023 and June 2024.