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-TIF1Æ´-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.

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.

Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.

Low-grade gliomas are a cause of severe and often life-long disability in children. Pathology plays a key role in their management by establishing the diagnosis, excluding malignant alternatives, predicting outcomes and identifying targetable genetic alterations. Molecular diagnosis has reshaped the terrain of pathology, raising the question of what part traditional histology plays.

Respiratory management of acute chest syndrome in children with sickle cell disease.

Acute chest syndrome (ACS) is a leading cause of respiratory distress and hospitalisation in children with sickle cell disease (SCD). The aetiology is multifactorial and includes fat embolism, venous thromboembolism, alveolar hypoventilation and respiratory infections, with the latter being particularly common in children. These triggers contribute to a vicious cycle of erythrocyte sickling, adhesion to the endothelium, haemolysis, vaso-occlusion and ventilation-perfusion mismatch in the lungs, resulting in the clinical manifestations of ACS.

COVID-19 diagnosis, vaccination during pregnancy, and adverse pregnancy outcomes of 865,654 women in England and Wales: a population-based cohort study.

Background: The extent to which COVID-19 diagnosis and vaccination during pregnancy are associated with risks of common and rare adverse pregnancy outcomes remains uncertain. We compared the incidence of adverse pregnancy outcomes in women with and without COVID-19 diagnosis and vaccination during pregnancy.

Methods: We studied population-scale linked electronic health records for women with singleton pregnancies in England and Wales from 1 August 2019 to 31 December 2021.

Imaging-Based Detection of Anterior Chamber Inflammation: A Comparative Diagnostic Accuracy Study.

Purpose: We investigated the impact of operator parameters on the diagnostic performance of anterior-segment optical coherence tomography (AS-OCT) in anterior uveitis.

Design: Prospective comparative diagnostic analysis.

Methods: Setting: Single site.

Effects of New Complementary Feeding Guidelines on Eating Behaviour, Food Consumption and Growth in Colombian Children: 6-Year Follow-Up of a Randomised Controlled Trial.

Complementary feeding (CF) may influence later eating behaviour and growth. Our previous Randomised Control Trial (RCT) reported that new CF guidelines (NCFGs) implemented in 6-12-month-old infants in Bogota, Colombia, had positive short-term effects on red meat, vegetable and fruit consumption. Here, we assessed the effects of the NCFGs on food consumption, eating behaviour and growth at 6 years of age.