Biomarker Panels for Discriminating Risk of CKD Progression in Children.

Background: We have previously studied biomarkers of tubular health (EGF), injury (KIM-1), dysfunction (alpha-1 microglobulin), and inflammation (TNFR-1, TNFR-2, MCP-1, YKL-40, suPAR), and demonstrated that plasma KIM-1, TNFR-1, TNFR-2 and urine KIM-1, EGF, MCP-1, urine alpha-1 microglobulin are each independently associated with CKD progression in children. In this study, we used bootstrapped survival trees to identify a combination of biomarkers to predict CKD progression in children.

Methods: The CKiD Cohort Study prospectively enrolled children 6 months to 16 years old with an eGFR of 30-90 ml/min/1.

Explanatory capacity of measures of community context for paediatric injury hospitalisations in the USA.

Objective: Community context influences children's risk for injury. We aimed to measure the explanatory capacity of two ZIP code-level measures-the Child Opportunity Index V.3.

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.

Aims: Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications.

Interpreting positive celiac serology in children with new-onset type 1 diabetes.

Objectives: The association of celiac disease (CD) in type 1 diabetes mellitus (T1DM) is well-established, yet variation exists in screening practices. This study measures the accuracy of early screening with tissue transglutaminase Immunoglobulin A (TTG-IgA) and endomysial antibody (EMA) in newly diagnosed T1DM.

Methods: This is a retrospective study of children with T1DM between 2013 and 2019 with early CD screening and follow-up.

Updates on neonatal cell and novel therapeutics: Proceedings of the Second Neonatal Cell Therapies Symposium (2024).

Cell therapies as treatments for neonatal conditions have attracted significant research and parent interest over the last two decades. Mesenchymal stromal cells, umbilical cord blood cells and neural stem cells translate from lab, to preclinical and into clinical trials, with contributions being made from all over the world. Effective and timely translation involves frequent reflection and consultation from research-adjacent fields (i.

Validation of Diagnosis Codes for Low Birth Weight and Small-for-Gestational Age in the Medicaid Analytic Extract Database.

Background: The accuracy of low birth weight (LBW) and small for gestational age (SGA) in administrative healthcare records is crucial for perinatal studies but has few validity studies.

Methods: Using 1999-2010 MAX linked to birth certificates (BC), we identified mother-infant dyads (≥30 days enrollment after delivery, with valid gestational age (GA) and birth weight (BW)). LBW and SGA were identified based on ICD-9-CM codes.

Exploring the use and usefulness of living guidelines for consumers: international online survey of patients' and carers' views.

Background: Living guidelines contain continually updated, and potentially changing, clinical recommendations. The implications of living guidelines for consumers (e.g.

3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity.

The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts for childhood obesity revealed 19 independent signals for the trait; however, the mechanism of action of these loci remains to be elucidated. To molecularly characterize these childhood obesity loci, we sought to determine the underlying causal variants and the corresponding effector genes within diverse cellular contexts.

Impact of Frailty on Surgical Outcomes of Patients With Cushing Disease Using the Multicenter Registry of Adenomas of the Pituitary and Related Disorders Registry.

Background And Objectives: Despite growing interest in how patient frailty affects outcomes (eg, in neuro-oncology), its role after transsphenoidal surgery for Cushing disease (CD) remains unclear. We evaluated the effect of frailty on CD outcomes using the Registry of Adenomas of the Pituitary and Related Disorders (RAPID) data set from a collaboration of US academic pituitary centers.

Methods: Data on consecutive surgically treated patients with CD (2011-2023) were compiled using the 11-factor modified frailty index.

Baseline Drug Clearance Predicts Outcomes in Children With Inflammatory Bowel Disease Treated With Vedolizumab: Results From the VedoKids Prospective Multicentre Study.

Background: The pharmacokinetics of biologic agents can differ between children and adults with inflammatory bowel disease (IBD), often necessitating modified paediatric dosing strategies.

Aims: To define the exposure-response relationship of vedolizumab in the paediatric IBD VedoKids cohort including the effect of baseline clearance on deep biochemical remission (normal C-reactive protein [CRP]/erythrocyte sedimentation rate [ESR] and steroid-free remission) at 30 weeks, and to use population pharmacokinetic models to find the best matches between adult and paediatric pharmacokinetic profiles.

Methods: We sought a pharmacokinetic model on 312 serum vedolizumab concentrations from 129 children, assisted by a published adult model as a Bayesian prior.

Rituximab as a first-line therapy in children with new-onset idiopathic nephrotic syndrome.

Background: Idiopathic nephrotic syndrome (INS) in children, commonly treated with steroids, poses challenges due to associated side effects. Rituximab, known for its efficacy in reducing relapse frequency in difficult-to-treat cases, emerges a potential first-line therapy for pediatric new-onset INS.

Method: This is a single-center, retrospective, observational study to evaluate the efficacy and safety of rituximab as a first-line therapy for pediatric INS.

Trochleoplasty in Pediatric Patients - A Systematic Review.

Background: Trochleoplasty is a surgical consideration for the treatment of high-grade trochlear dysplasia. The safety profile of this procedure remains particularly unclear in the skeletally immature population where concerns exist regarding physeal arrest and the development of premature patellofemoral arthritis. The purpose of this study was to systematically review the literature to evaluate trochleoplasty use, outcomes and complications observed among pediatric patients.

Acquired factor V inhibitor in a case of pediatric venous thrombosis.

Background: The development of acquired factor (F)V with inhibitor (AFVwI) is rare, resulting mainly in bleeding complications, although sporadic cases of thrombosis in adults have been reported.

Key Clinical Question: How do you diagnose and manage a pediatric case of acute deep venous thrombosis associated with the concurrent finding of AFVwI?

Clinical Approach: A 13-year-old female with Crohn's Disease and May-Thurner anatomy developed extensive deep venous thrombosis of the left lower extremity, complicated by the finding of AFVwI, discovered during the evaluation of a prolonged prothrombin time and a low FV activity. Anticoagulation was initiated with low-molecular-weight heparin followed by a direct oral anticoagulant, rivaroxaban, without any complications.

Baseline Characteristics of Frailty and Disease Stage in Older People Living With CKD.

Introduction: The GOAL trial, a cluster randomized controlled trial, investigated the effect of comprehensive geriatric assessment (CGA) on frail older people with chronic kidney disease (CKD). This paper describes the following: (i) participant baseline characteristics, and (ii) their relationship with CKD stage and frailty severity.

Methods: Sixteen kidney outpatient clinics (clusters) were randomly allocated 1:1 to CGA or usual care.

Friedreich ataxia: what can we learn from non-GAA repeat mutations?

Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient.

Cord blood for autologous transfusion in infants with congenital anomalies: Volumes, sterility, and stability during storage.

Background: Neonates with congenital anomalies frequently require perioperative allogeneic red blood cell (RBC) transfusion. Whole cord blood for autologous transfusion to neonates may provide an alternative RBC source, but whether sufficient volumes can be collected after delayed cord clamping to reduce allogeneic RBC requirements is unknown.

Study Design And Methods: Inclusion criteria were mothers delivering a viable infant >34 weeks' gestation.

A review of imaging in the diagnosis and management of complicated paediatric pneumonia.

Paediatric pneumonia and its complications present substantial health and economic challenges. While chest radiographs are commonly used as the initial imaging modality for diagnosing uncomplicated pneumonia, they are less effective for complicated cases. In response, various imaging techniques, such as lung ultrasound, computed tomography (CT), and chest MRI, have been integrated into clinical practice to enhance diagnosis and guide management decisions.

Pre-emptive treatment for cytomegalovirus viraemia to prevent cytomegalovirus disease in solid organ transplant recipients.

Background: Cytomegalovirus (CMV) is a significant cause of morbidity and death in solid organ transplant recipients. Pre-emptive treatment of patients with CMV viraemia using antiviral agents has been suggested as an alternative to routine prophylaxis to prevent CMV disease. This is an update of a Cochrane review first published in 2006 and updated in 2013.

Clinical practices on acute acquired comitant esotropia: A consensus statement proposed by the Council of Asia-Pacific Strabismus and Pediatric Ophthalmology Society.

Acute acquired comitant esotropia (AACE) is a concomitant strabismus characterized by sudden onset, mostly associated with diplopia. The prevalence of AACE has significantly increased, and various management approaches have been recommended in recent years. This study by the Council of Asia-Pacific Strabismus and Pediatric Ophthalmology Society aimed to provide an overview of the clinical features, etiology and the nonsurgical and surgical treatment recommendations for the condition to equip strabismus specialists with the most updated knowledge.

Six-Month Outcomes in the Long-Term Outcomes After the Multisystem Inflammatory Syndrome in Children Study.

Importance: Multisystem inflammatory syndrome in children (MIS-C) is a life-threatening complication of COVID-19 infection. Data on midterm outcomes are limited.

Objective: To characterize the frequency and time course of cardiac dysfunction (left ventricular ejection fraction [LVEF] <55%), coronary artery aneurysms (z score ≥2.

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.

Many inherited metabolic disorders (IMD) are associated with end-organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates. We present the first known report of liver transplantation from a deceased donor with cystinosis.

Maintaining level of modifiable dementia risk scores is associated with better cognitive outcomes than increasing risk scores: A population-based prospective cohort study.

Background: A brain healthy lifestyle, consisting of good cardiometabolic health and being cognitively and socially active in midlife, is associated with a lower risk of cognitive decline years later. However, it is unclear whether lifestyle changes over time also affect the risk for mild cognitive impairment (MCI)/dementia, and rate of cognitive decline.

Objectives: To investigate if lifestyle changes over time are associated with incident MCI/dementia risk and rate of cognitive decline.

Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs.

The Homo sapiens Chromosomal Location Ontology (HSCLO) is designed to facilitate the integration of human genomic features into biomedical knowledge graphs from releases GRCh37 and GRCh38 at multiple resolutions. HSCLO comprises two distinct versions, HSCLO37 and HSCLO38, each tailored to its respective human genome release. This ontology supports the efficient integration and analysis of human genomic data across scales ranging from entire chromosomes to individual base pairs, thereby enhancing data retrieval and interoperability within large-scale biomedical datasets.

Alterations of subcortical structural volume in pediatric bipolar disorder patients with and without psychotic symptoms.

Background: Pediatric bipolar disorder (PBD) with psychotic symptoms may predict more severe impairment in social functioning, but the underlying biological mechanisms remain unclear. The aim of this study was to investigate alterations in subcortical structural volume in PBD with and without psychotic symptoms.

Methods: We recruited 24 psychotic PBD (P-PBD) patients, 24 non-psychotic PBD (NP-PBD) patients, and 18 healthy controls (HCs).