"I think her life got so much better": parents' perceptions of children's quality of life following treatment of tracheomalacia with aortopexy.

Background: Aortopexy is a procedure to reduce pressure on the trachea in children with severe tracheomalacia. Health-related quality of life (HRQoL) has not been studied in children who have undergone aortopexy; we aimed to explore parents' perceptions of their child's HRQoL before and after aortopexy.

Methods: Parents of children < 18 years who underwent aortopexy at a quaternary specialist centre were purposively sampled and invited to participate in a semi-structured interview.

Synergistic Strategies for KMT2A-Rearranged Leukemias: Beyond Menin Inhibitor.

KMT2A-rearranged leukemias are a highly aggressive subset of acute leukemia, characterized by poor prognosis and frequent relapses despite intensive treatment. Menin inhibitors, which target the critical KMT2A-menin interaction driving leukemogenesis, have shown promise in early clinical trials. However, resistance to these inhibitors, often driven by menin mutations or alternative oncogenic pathways, remains a significant challenge.

Treatments for RYR1-related disorders.

This is a protocol for a Cochrane Review (intervention). The objectives are as follows: Primary objective To analyse the benefits and harms of pharmacological or other interventions (e.g.

Self-organized cell patterning via mechanical feedback in hindbrain neuropore morphogenesis.

Cell patterning is essential for organized tissue development, enabling precise geometric arrangement of cells, body axis establishment and developmental timing. Here we investigate the role of physical forces and mechanical cues in organizing and maintaining cell morphological patterns during hindbrain neuropore closure, a critical morphogenetic event in vertebrate development. Through live-imaging in mouse embryos and cell-based biophysical modeling, we demonstrate that active cell crawling and actomyosin purse-string contraction at the neuropore border are insufficient to account for the observed cellular arrangements in space and time.

ILAE neonatal seizure framework to aide in determining etiology.

Objective: To employ the neonatal seizure framework developed by the International League Against Epilepsy (ILAE) Neonatal Task force to assess its usefulness in determining the etiology of neonatal seizures.

Methods: The members of the ILAE Neonatal Task Force evaluated 157 seizures from 146 neonates to determine internal validity and associations between semiology and a specific etiology.

Results: Provoked neonatal electrographic and electroclinical seizures were due to multiple etiologies.

Short-term weight variability in infants and toddlers: an observational study.

Aims: To explore short-term weight variability in young children; (1) how it relates to expected weight gain and (2) how it is affected by age, time of day and dietary intakes and outputs.

Methods: Twenty healthy infants aged 2-10 months and 21 healthy toddlers aged 12-35 months were weighed at home by their parents six times over 3 days. The toddlers' parents also recorded whether they had eaten, drunk, urinated or passed stool in the previous 2 hours.

Discovery of miRNA-mRNA regulatory networks in glioblastoma reveals novel insights into tumor microenvironment remodeling.

Adult glioblastoma (GBM) is a highly aggressive primary brain tumor, accounting for nearly half of all malignant brain tumors, with a median survival rate of only 8 months. Treatment for GBM is largely ineffective due to the highly invasive nature and complex tumor composition of this malignancy. MicroRNAs (miRNA) are short, non-coding RNAs that regulate gene expression by binding to messenger RNAs (mRNA).

Anti-Sp4 and Anti-CCAR1 autoantibodies in UK vs. US patients with adult and juvenile-onset anti-TIF1ƴ-positive myositis.

Objectives: Anti-TIF1γ autoantibodies are associated with malignancy in adult-onset idiopathic inflammatory myopathy (IIM) and this risk is attenuated if patients are also positive for anti-specificity protein 4 (Sp4) or anti-cell division cycle apoptosis regulator protein 1 (CCAR1). In anti-TIF1γ positive US dermatomyositis (DM) patients, anti-Sp4 and anti-CCAR1 autoantibody frequencies are reported as 32% and 43% in adults and 9% and 19% in juveniles, respectively. This study aims to identify the frequency of anti-Sp4 and anti-CCAR1 in adult and juvenile UK anti-TIF1ƴ-positive myositis populations and report clinical associations.

Ranking performances of Olympic-style weightlifters adjusted for body mass on the same scale for both sexes: A novel approach.

Males typically outperform females in Olympic-style weightlifting, as judged by total weight lifted, and similarly heavier athletes outperform lighter athletes. Current methods can standardise weightlifting performances across body mass to compare different body mass classes, but they do not address the sex gap. This study introduces a novel approach that puts male and female performances on a single unified scale, across the range of body mass, allowing mixed sex teams to be compared.

Higher cost of gluten-free products compared to gluten-containing equivalents is mainly attributed to staple foods.

The high cost of gluten-free products (GFPs) is being discussed as a potential barrier to adherence to a gluten-free diet, rendering monitoring of their pricing an ongoing demand in a market subject to continuous fluctuations. The current study aimed to assess the current pricing status of GFPs in the Greek retail market, with a focus on differences between staple and non-staple foods. The retail price and packaging weight of all available GFPs and their gluten-containing (GCPs) counterparts of a GFP-shopping basket (formulated based on the results of a preceding online survey) were recorded by visiting one store of the five most popular reported supermarket chains.

Conditional Pten inactivation in pituitary results in sex-specific prolactinoma formation.

Pituitary tumors, including prolactinomas, present significant clinical challenges that require a deeper understanding of their molecular roots for improved diagnostics and therapies. Here, we investigate the role of the phosphatase and tensin homolog (PTEN)/phosphoinositide 3-kinase (PI3K) pathway in pituitary tumorigenesis using a mouse model. Conditional knockout of Pten in all pituitary cell lineages resulted in prolactinoma formation exclusively in female mice, demonstrating the critical role of PTEN in pituitary homeostasis.

The molecular basis of hypoprolactinaemia.

Hypoprolactinaemia is an endocrinopathy which is typically encountered as part of a combined pituitary hormone deficiency picture. The vast majority of genetic causes identified to date have been in the context of congenital hypopituitarism with multiple co-existent endocrinopathies. This is primarily with its closest hormonal relation, namely growth hormone.

DNA methylation-array interlaboratory comparison trial demonstrates highly reproducible paediatric CNS tumour classification across 13 international centres.

Aims: DNA methylation profiling, recently endorsed by the World Health Organisation (WHO) as a pivotal diagnostic tool for brain tumours, most commonly relies on bead arrays. Despite its widespread use, limited data exist on the technical reproducibility and potential cross-institutional differences. The LOGGIC Core BioClinical Data Bank registry conducted a prospective laboratory comparison trial with 12 international laboratories to enhance diagnostic accuracy for paediatric low-grade gliomas, focusing on technical aspects of DNA methylation data generation and profile interpretation under clinical real-time conditions.

Upregulation of keratin 15 is required for varicella-zoster virus replication in keratinocytes and is attenuated in the live attenuated vOka vaccine strain.

Varicella-zoster virus (VZV) is the etiological agent of chickenpox and shingles, diseases characterised by epidermal virus replication in skin and mucosa and the formation of blisters. We have previously shown that VZV infection has a profound effect on keratinocyte differentiation, altering the normal pattern of epidermal gene expression. In particular, VZV infection reduces expression of suprabasal keratins 1 and 10 and desmosomal proteins, disrupting epidermal structure to promote expression of a blistering phenotype.

Ultra-processed Food Intake During Pregnancy and its Impact on Maternal Diet Quality and Weight Change: A Systematic Review of Observational Studies.

Purpose Of Review: Adequate and balanced nutrition during pregnancy is essential for both the mother's and fetus's health. The increased dietary intake of ultra-processed foods (UPFs) and their significant share in the diet negatively affects diet quality and gestational weight gain during pregnancy. The aim of this systematic review was to examine the association of UPFs consumption with diet quality and gestational weight change among healthy pregnant women, using data from observational studies (PROSPERO Identifier: CRD42023468269) from the last 10 years.

Associations between Meal Patterns and Risk of Overweight/Obesity in Children and Adolescents in Western Countries: A Systematic Review of Longitudinal Studies and Randomised Controlled Trials.

Childhood overweight/obesity (OV/OB) is a major public health problem in Western countries, often accompanied with comorbidities (e.g., hypertension and insulin resistance) (i.