Discharge against medical advice among infants with 24-31 weeks' gestation admitted to Chinese neonatal intensive care units: A multicenter cohort study.

Background: Previous studies demonstrated high rates of discharge against medical advice (DAMA) among very preterm infants (VPIs) in China.

Objectives: The aim of this study was to investigate the concurrent incidence, variation, and predictors of DAMA, along with the effect of DAMA on mortality of VPIs in China using data from the Chinese Neonatal Network (CHNN).

Methods: All infants born at 24-31 completed weeks' gestation and admitted to 57 CHNN neonatal intensive care units (NICUs) in 2019 were included for this cohort study, excluding infants with major congenital anomalies.

Macroprolactin screening in 464 patients with hyperprolactinaemia.

Introduction: Macroprolactinaemia is usually detected by polyethylene glycol (PEG) precipitation in clinical laboratories. Laboratory data on prolactin and macroprolactin screening by PEG precipitation in a tertiary hospital were reviewed in order to revise the local policy for reflex screening and reporting of macroprolactin in patients with hyperprolactinaemia.

Materials And Methods: Paired prolactin results from 464 patients before and after PEG precipitation, either requested by a clinician or performed as a reflex test, were retrieved and reviewed.

Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study.

Objective: There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK.

Design And Methods: This cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8-18 years with classic 21-hydroxylase deficiency and 83 controls.

Congenital Midline Cervical Cleft (CMCC): Z-Plasty Versus Linear Cutaneous Repair.

Congenital midline cervical cleft (CMCC) is a rare congenital difference. Accurate diagnosis is important to ensure appropriate treatment. CMCC results in both functional and esthetic concerns addressed by surgical management.

Proper understanding of recurrent stress urinary incontinence treatment in women (PURSUIT): a randomised controlled trial of endoscopic and surgical treatment.

Background: Women with stress urinary incontinence (SUI) experience urine leakage with physical activity. Currently, the interventional treatments for SUI are surgical, or endoscopic bulking injection(s). However, these procedures are not always successful, and symptoms can persist or come back after treatment, categorised as recurrent SUI.

Necrotizing pneumonia requiring prolonged extracorporeal membrane oxygenation: Pushing the boundaries in pediatric ECMO.

Extracorporeal membrane oxygenation (ECMO) is a life-saving rescue therapy used in acute respiratory failure refractory to invasive mechanical ventilation. Recent studies on positive outcomes of extended ECMO therapy are promising. We describe a case of a 2-year 8-month-old female child with necrotizing pneumonia secondary to , , and , who survived with intact neurological function and no long-term adverse outcomes after a prolonged ECMO run of 86 days.

Perinatal bacterial colonization and neonatal early-onset sepsis: A case-control study.

Background: The utility of determining maternal-neonatal surface colonization as detected by standard microbiological cultures around the time of birth is unclear. The aim of this study is to evaluate the association between maternal and neonatal surface colonization at birth and neonatal early onset sepsis (EOS).

Objective: To investigate the association of white matter hyperintensities (WMHs) present in the brain with AD CSF biomarker levels.

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Background: Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central nervous system white matter. A substantial number of disorders are identifiable from their specific pattern of biochemical and/or imaging findings for which single gene testing may be indicated. Beyond this group, the causes of genetic white matter disorders are unclear and a broader approach to genomic testing is recommended.

Sudden onset hepatitis in children.

The recent increase in unexplained acute hepatitis in children in 2022 has focused attention on acute paediatric liver disease. We discuss emerging evidence and leading causal hypotheses in context with potential long-term effects of the COVID-19 pandemic for young children.

DARS-AS1 recruits METTL3/METTL14 to bind and enhance DARS mRNA mA modification and translation for cytoprotective autophagy in cervical cancer.

Cervical cancer (CC) is one of the most prevalent malignancies among females. Cytoprotective autophagy could confer cancer cell tolerance to hypoxic stress, promoting cell survival and adaptation. Aspartyl-tRNA synthetase 1 antisense 1 (DARS-AS1) is an oncogenic long non-coding RNA (lncRNA) in various cancers, but how DARS-AS1 regulates cytoprotective autophagy in hypoxic environment in CC remains unclear.

Association of chest compression pause duration prior to E-CPR cannulation with cardiac arrest survival outcomes.

Objective: To characterize chest compression (CC) pause duration during the last 5 minutes of pediatric cardiopulmonary resuscitation (CPR) prior to extracorporeal-CPR (E-CPR) cannulation and the association with survival outcomes.

Methods: Cohort study from a resuscitation quality collaborative including pediatric E-CPR cardiac arrest events ≥ 10 min with CPR quality data. We characterized CC interruptions during the last 5 min of defibrillator-electrode recorded CPR (prior to cannulation) and assessed the association between the longest CC pause duration and survival outcomes using multivariable logistic regression.

Droplet digital PCR for identifying copy number variations in patients with primary immunodeficiency disorders.

Primary immunodeficiency disorders comprise a rare group of mostly monogenic disorders caused by inborn errors of immunity. The majority can be identified by either Sanger sequencing or next generation sequencing. Some disorders result from large insertions or deletions leading to copy number variations (CNVs).

HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant.

Background: HIDEA (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) syndrome is a rare and novel disease. We describe a premature patient who required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome.

Case Description: The patient was born to a pair of consanguineous parents at 32-week gestation.

Cost-Effectiveness and Budget Impact Analyses of Tisagenlecleucel in Pediatric and Young Adult Patients with Relapsed or Refractory B-Cell Acute Lymphoblastic Leukemia from the Singapore Healthcare System Perspective.

Purpose: Children and young adults with relapsed or refractory (r/r) acute lymphoblastic leukemia (ALL) have poor survival due to ineffective therapy options. The newly approved chimeric antigen receptor T-cell (CAR-T) therapy, tisagenlecleucel, has demonstrated improved survival but at a high up-front cost. The study aims to evaluate the cost-effectiveness and budget impact of tisagenlecleucel versus salvage chemotherapy regimen (SCR) or blinatumomab (BLN) for the treatment of pediatric and young adult patients with relapsed/refractory B-cell ALL from the Singapore healthcare system perspective.

Validation of the CaRdiac Arrest Survival Score (CRASS) for predicting good neurological outcome after out-of-hospital cardiac arrest in an Asian emergency medical service system.

Background: Survival with favorable neurological outcomes is an important indicator of successful resuscitation in out-of-hospital cardiac arrest (OHCA). We sought to validate the CaRdiac Arrest Survival Score (CRASS), derived using data from the German Resuscitation Registry, in predicting the likelihood of good neurological outcomes after OHCA in Singapore.

Methods: We conducted a retrospective population-based validation study among EMS-attended OHCA patients (≥18 years) in Singapore, using data from the prospective Pan-Asian Resuscitation Outcomes Study registry.

Case Report: Precision Medicine Target Revealed by Modeling of Relapsed, Refractory Acute Lymphoblastic Leukemia From a Child With Neurofibromatosis.

Children with neurofibromatosis have a higher risk of developing juvenile myelomonocytic leukemia and acute myeloid leukemia, but rarely develop B-cell acute lymphoblastic leukemia (B-ALL). Through modeling, a novel p.L2467 frameshift (fs) mutation identified in a relapsed/refractory Ph-like B-ALL patient with neurofibromatosis demonstrated cytokine independence and increased RAS signaling, indicative of leukemic transformation.

Nomogram for stratifying patients with lifelong premature ejaculation before using the PHQ-9: An observational study.

Objective: A PHQ-9 score ≥ 15, represented as PHQ-9 , indicates major depressive disorder (MDD). On using PHQ-9, the psychological burden of several patients with lifelong premature ejaculation (LPE) gets aggravated, which may lead to LPE development. We aim to construct a nomogram for predicting the individual risk of PHQ-9 in patients with LPE and discerning those with low risks, who should avoid the PHQ-9.

Genetic polymorphisms in the , , and genes were associated with biochemical index of chronic HBV patients from Yunnan, China.

Hepatitis B virus (HBV) infection causes Hepatitis B, which is one of the most common causes of hepatocellular carcinoma (HCC). The single nucleotide polymorphisms (SNPs) of the host immune genes could impact HBV infection, viral clearance, and treatment effect. However, the contradictory roles of several studies suggest further analysis of various populations.

Training in pediatric hepatology across Europe: a survey of the National Societies Network (2016-2019) of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.

Background: The widely recognized burden of liver diseases makes training in pediatric hepatology (PH) imperative. The aim of this survey, which was part of a global survey on training in pediatric gastroenterology, hepatology and nutrition (PGHN) across Europe, was to assess the PH and liver transplantation (LT) infrastructure, staff and training programs in PGHN training centers.

Method: Standardized questionnaires were collected from training centers via the presidents/representatives of the National Societies Network of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) from June 2016 to December 2019.