Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

Trimethoprim-sulfamethoxazole-induced lung injury: a case report.

Background: Trimethoprim-sulfamethoxazole (TMP-SMX) is a commonly used antibiotic. While cutaneous adverse drug reactions associated with TMP-SMX are commonly recognized, lung toxicity induced by TMP-SMX is an unusual condition, with scattered reports of hypersensitivity pneumonitis, acute fibrinous organizing pneumonia, interstitial lung disease and acute respiratory distress syndrome. Reports of TMP-SMX-associated drug-induced lung injury (DLI) are rare in the pediatric population and its pathogenesis is not well understood.

Significant alteration of protein profiles in a mouse model of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is an endocrine disorder, affecting women of child-bearing age, and the incidence rate is growing and assuming epidemic proportions. The etiology of PCOS remains unknown and there is no cure. Some animal models for PCOS have been established which have enhanced our understanding of the underlying mechanisms, but omics data for revealing PCOS pathogenesis and for drug discovery are still lacking.

Gabapentin for Pain in Pediatric Palliative Care.

Objective: Gabapentin is commonly used to treat pain in children receiving pediatric palliative care. This study describes the real-world use of gabapentin and the associated benefits and adverse effects/events (AEs).

Methods: A prospective, multicenter cohort of standardized data collection after a clinical decision was made to use gabapentin for managing neuropathic or nociplastic pain in children attended on by a pediatric palliative care service.

Clinical practice of vitamin D screening and supplementation in pregnancy in Asia-pacific countries: A cross-sectional study.

Background: Vitamin D deficiency is common in pregnant women. There is scarce information in the Asia-Pacific region on the understanding of vitamin D screening and supplementation in pregnancy among health care professionals.

Methods: We performed a cross-sectional study among health care professionals who are part of the Integrated Platform for Research in Advancing Metabolic Health outcomes of Women and Children (IPRMAHO) international study group on their understanding and perception of Vitamin D screening and supplementation in pregnancy.

The influence of male HBV infection on sperm quality, embryonic development, and assisted reproductive outcomes.

Study Question: What is the impact of male hepatitis B virus (HBV) infection on sperm quality, embryonic development, and assisted reproductive outcomes?

Summary Answer: Male HBV infection did not affect assisted reproductive outcomes, but HBV is capable of impairing human sperm and embryo formation in the early stages following fertilization.

What Is Known Already: HBV is found in germ cells and early embryos of patients with HBV. HBV may impair human sperm function via increasing reactive oxygen species.

Nutrition provision in Australian and New Zealand PICUs: A prospective observational cohort study (ePICUre).

Objectives: The main aim of this study was to describe nutrition provision in Australian and New Zealand (ANZ) pediatric intensive care units (PICUs), including mode of nutrition and adequacy of enteral nutrition (EN) to PICU day 28. Secondary aims were to determine the proportion of children undergoing dietetics assessment, the average time to this intervention, and the methods for estimation of energy and protein requirements.

Methods: This observational study was conducted in all ANZ tertiary-affiliated specialist PICUs.

Allogeneic Umbilical Cord Plasma Eyedrops for the Treatment of Recalcitrant Dry Eye Disease Patients.

Background: Dry eye disease is a significant disease in Singapore. While there have been studies using allogenic cord serum for the treatment of dry eye disease, treatment of dry eyes with allogenic umbilical cord plasma drops has yet to be started in Singapore.

Purpose: To evaluate the effectiveness of umbilical cord plasma eyedrops for the treatment of recalcitrant dry eyes in a local Singaporean context.

Atypical presentations of primary acquired hypothyroidism - a case series.

Primary acquired hypothyroidism in children manifests with a myriad of clinical presentations. Clinical features can be insidious in nature, often under the guise of non-specific presentations to other subspecialties prior to referral to the endocrinologist. Growth failure is a hallmark feature in these children alongside their presenting clinical symptomology which needs to be identified through detailed history, physical examination and analysis of the growth charts.

How do we detect and respond to clinical deterioration in hospitalized children? Results of the Pediatric Care BefOre Deterioration Events (CODE) survey.

Systems to detect and respond to deteriorating hospitalized children are common despite little evidence supporting best practices. Our objective was to describe systems to detect/respond to deteriorating hospitalized children at Pediatric Resuscitation Quality Collaborative (pediRES-Q) institutions. We performed a cross-sectional survey of pediRES-Q leaders.

Mild Traumatic Brain Injury Characteristics and Symptoms in Preschool Children: How Do They Differ to School Age Children? A Multicenter Prospective Observational Study.

Objective: To investigate if preschool children differ to school age children with mild traumatic brain injury (TBI) with respect to injury causes, clinical presentation, and medical management.

Design: A secondary analysis of a dataset from a large, prospective and multisite cohort study on TBI in children aged 0-18 years, the Australian Paediatric Head Injury Rules Study.

Setting: Nine pediatric emergency departments (ED) and 1 combined adult and pediatric ED located across Australia and New Zealand.

Early steroids after pediatric liver transplantation protect against T-cell-mediated rejection: Results from the ChilSFree study.

Steroid-free immunosuppression protocols gained popularity in pediatric liver transplantation (pLT) after the introduction of IL-2-receptor blockade for induction therapy. We analyzed the clinical and immunologic outcome data of the multicenter prospective observational ChilSFree study to compare the impact of steroid-free versus steroid-containing immunosuppressive therapy following pLT in a real-life scenario. Two hundred forty-six children [55.

Biomarkers in congenital adrenal hyperplasia.

Monitoring of hormone replacement therapy represents a major challenge in the management of congenital adrenal hyperplasia (CAH). In the absence of clear guidance and standardised monitoring strategies, there is no consensus among clinicians regarding the relevance of various biochemical markers used in practice, leading to wide variability in their application and interpretation. In this review, we summarise the published evidence on biochemical monitoring of CAH.

A qualitative exploration of parental perspectives on quality of care for children with serious illnesses.

Introduction: Being responsive to end-users is essential to good care. Limited in-depth exploration of parental perspectives on care received by children over the course of serious illness has hindered the development of process measures to evaluate quality of care. Our objective was to identify the key process indicators prioritized by parents in the care of seriously ill young children and develop a framework to guide assessment of quality of care.

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

Background: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. Clinical diagnosis of the EB subtypes is frequently imprecise and requires confirmation with genetic testing. There is still limited study using genetic testing to identify EB subtypes in Indonesia.

Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia-UK Nationwide Multicenter Assessment.

Context: Quality of life (QoL) has been inconsistently reported in children and young people (CYP) with congenital adrenal hyperplasia (CAH).

Objective: Assess QoL in CYP with CAH in the UK alongside biometric and androgen profiles.

Design: To define the evidence base for health care delivery, we conducted a cross-sectional study in CYP with CAH in the UK.

The machine-vision image guided surgery system reduces fluoroscopy time, ionizing radiation and intraoperative blood loss in posterior spinal fusion for scoliosis.

Purpose: To determine if the novel 3D Machine-Vision Image Guided Surgery (MvIGS) (FLASH™) system can reduce intraoperative radiation exposure, while improving surgical outcomes when compared to 2D fluoroscopic navigation.

Methods: Clinical and radiographic records of 128 patients (≤ 18 years of age) who underwent posterior spinal fusion (PSF), utilising either MvIGS or 2D fluoroscopy, for severe idiopathic scoliosis were retrospectively reviewed. Operative time was analysed using the cumulative sum (CUSUM) method to evaluate the learning curve for MvIGS.

Long term clinical outcomes of home parenteral nutrition in Singapore.

Background And Objectives: Home parenteral nutrition (HPN) is a life sustaining therapy for patients with chronic intestinal failure. Reported outcomes for Asian HPN patients are scarce. We aim to review the clinical outcomes of adult and paediatric HPN patients in our cohort which caters for 95% of Singaporean HPN patients.

Budd-Chiari Syndrome-A Single Center Experience From the United Kingdom.

Pediatric Budd-Chiari syndrome (BCS) is a rare cause of portal hypertension and liver disease in Europe and North America. In order to understand the long-term effect of radiological intervention on BCS we performed a single center retrospective review. Fourteen cases were identified; 6 of 14 (43%) had a congenital thrombophilia with many having multiple prothrombotic mutations.

Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

X-linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism, resulting in diverse skeletal, dental, and other extraskeletal abnormalities that become evident in early childhood and persist into adolescence and adult life.

Detection of the effect of microvibrational stimulation on human discarded immature oocytes by single-cell transcriptome sequencing technology.

Objective: This study aimed to investigate the changes in oocytes at the transcriptome level after applying continuous microvibrational mechanical stimulation to human immature oocytes during in vitro maturation.

Methods: The discarded germinal-vesicle stage (GV) oocytes with no fertilization value after oocytes retrieval in assisted reproduction cycles were collected. Part of them was stimulated with vibration (n = 6) at 10 Hz for 24 h after obtaining informed consent; the other was cultured in static condition (n = 6).