Socioeconomic and demographic patterning of family uptake of a paediatric electronic patient portal innovation.

Patient portals allowing access to electronic health care records and services can inform and empower but may widen existing sociodemographic inequities. We aimed to describe associations between activation of a paediatric patient portal and patient race/ethnicity, socioeconomic status and markers of previous engagement with health care. A retrospective single site cross-sectional study was undertaken to examine patient portal adoption amongst families of children receiving care for chronic or complex disorders within the United Kingdom.

Academic outcomes before and after clinical onset of acquired demyelinating syndromes in children: a matched cohort data linkage study.

It is unknown if cognition is impaired before clinical onset of paediatric acquired demyelinating syndromes. We conducted a matched cohort study using prospectively collected educational data in multiple sclerosis (MS) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) patients (n = 60) and controls (pooled n = 449,553). Academic performance at ages 10-11 was impaired in MOGAD (-1.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy.

Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

Facilitating home birth in perinatal palliative care: A case report.

Background: Perinatal palliative care can offer compassionate support to families following diagnosis of a life-limiting illness, to enable them to make valued choices and the most of the time that they have with their newborn. However, home birth is usually only offered in low-risk pregnancies.

Case: A couple who received an antenatal diagnosis of hypoplastic left heart syndrome and who had made a plan to provide palliative care to their baby after birth requested the option of a home birth.

Real-World Evidence of 3D Printing of Personalised Paediatric Medicines and Evaluating Its Potential in Children with Cancer: A Scoping Review.

Personalised medicine, facilitated by advancements like 3D printing, may offer promise in oncology. This scoping review aims to explore the applicability of 3D printing for personalised pharmaceutical dosage forms in paediatric cancer care, focusing on treatment outcomes and patient experiences. Following the Joanna Briggs Institute (JBI) methodology, a comprehensive search strategy was implemented to identify the relevant literature across databases including PubMed, Embase, and Web of Science.

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.

Wagner syndrome is a rare autosomal dominant vitreoretinopathy caused by mutations in chondroitin sulphate proteoglycan 2 (CSPG2)/Versican (VCAN). Here, we present a retrospective case series of a family pedigree with genetically confirmed Wagner syndrome (heterozygous VCAN exon 8 deletion), as follows: a 34-year-old mother (P1), 12-year-old daughter (P2), and a 2-year-old son (P3). The phenotype included early-onset cataract (P1), optically empty vitreous with avascular membranes (P1, 2), nasal dragging of optic nerve heads associated with foveal hypoplasia (P1, 2), tractional retinoschisis on optical coherence tomography (P2), and peripheral circumferential vitreo-retinal interface abnormality resembling white-without-pressure (P3) progressing to pigmented chorio-retinal atrophy (P1, 2).

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees.

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Purpose And Scope: The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times.

Methods Of Statement Development: A 1-day workshop was convened by the UK Association for Clinical Genomic Science and attended by key stakeholders within the NHS Genomic Medicine Service, including clinical scientists, clinical geneticists and patient support group representatives.

Outcome after treatment with axitinib in children, young adults, and adults with renal cell carcinoma: a narrative review.

Renal cell carcinoma (RCC) is a very rare type of renal cancer in children and young adults. When metastasized or recurrent, no standards of care are available, and outcome is still poor. The tyrosine kinase inhibitor axitinib is approved for treatment of RCC in adults, but its effects in children and young adults with RCC remains unclear.

Sacubitril/Valsartan in Pediatric Heart Failure (PANORAMA-HF): A Randomized, Multicenter, Double-Blind Trial.

Background: Sacubitril/valsartan, an angiotensin receptor-neprilysin inhibitor (ARNI), is an established treatment for heart failure (HF) with reduced left ventricular ejection fraction. It has not been rigorously compared with angiotensin-converting enzyme inhibitors in children. PANORAMA-HF (Prospective Trial to Assess the Angiotensin Receptor Blocker Neprilysin Inhibitor LCZ696 Versus Angiotensin-Converting Enzyme Inhibitor for the Medical Treatment of Pediatric HF) is a randomized, double-blind trial that evaluated the pharmacokinetics and pharmacodynamics (PK/PD), safety, and efficacy of sacubitril/valsartan versus enalapril in children 1 month to <18 years of age with HF attributable to systemic left ventricular systolic dysfunction (LVSD).

Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.

Background: With the potential to identify a vast number of rare diseases soon after birth, genomic newborn screening (gNBS) could facilitate earlier interventions and improve health outcomes. Designing a gNBS programme will involve balancing stakeholders' opinions and addressing concerns. The views of medical students-future clinicians who would deliver gNBS-have not yet been explored.

Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.

In 2015, U.K. newborn screening (NBS) laboratory guidelines were introduced to standardize dried blood spot (DBS) specimen quality acceptance and specify a minimum acceptable DBS diameter of ≥7 mm.

Intraoperative MRI in pediatric epilepsy and neuro-oncology: a systematic review and meta-analysis.

Objective: Intraoperative magnetic resonance imaging (iMRI) use is becoming increasingly widespread in neurosurgical practice, and most of the data reporting its use are in adult populations. There is less evidence on the use of iMRI in pediatric neurosurgery. The aim of this paper was to synthesize the available literature into a systematic review and meta-analysis to evaluate the evidence for iMRI in pediatric neurosurgery, with a particular focus on neuro-oncology and epilepsy surgery.