Predisposition footprints in the somatic genome of Wilms tumours.

Ten percent of children with cancer harbour a mutation in a predisposition gene. In children with the kidney cancer, Wilms tumour, the prevalence is as high as 30%. Certain predispositions are associated with defined histological and clinical features, suggesting differences in tumourigenesis.

Impacts of feeding milk replacer supplemented with increasing concentrations of choline on feed intake, growth, and scouring incidence for 7 weeks preweaning and 1 week postweaning.

The objective of this study was to evaluate the effect of increasing choline supplementation on the intake of milk replacer (MR) and calf starter (CS), growth performance, and fecal scores of calves over 8 wk. One hundred calves from commercial herds were transported to the University of Minnesota Southern Research and Outreach Center (SROC) calf facility randomized to one of 4 treatments differing in choline supplementation within MR including: 0 (C0; n = 24), 700 (C700; n = 26), 1,400 (C1400; n = 25), and 2,100 mg/kg choline (C2100; n = 25). Milk replacer contained a basal concentration of 1,650 mg/kg MR resulting in total choline concentrations in the MR of 1,650 mg/kg for C0, 2,350 mg/kg for C700, 3,050 mg/kg for C1400, and 3,750 mg/kg for C2100.

Factors associated with cystic fibrosis mortality before the age of 30: retrospective analysis of a cohort in southern Brazil.

The aim of this study was to retrospectively evaluate the factors associated with mortality before the age of 30 in adults with cystic fibrosis (CF) followed up at a referral center in southern Brazil. This study included individuals over 18 years of age. Clinical data related to childhood and the period of transition to an adult healthcare of individuals with CF were recorded, as well as spirometric and mortality data of individuals between 18 and 30 years of age.

Gold Meets Selenium: Dual Activation of Selenium-Containing Propargyl Alcohols Towards the Synthesis of 2H-Chromenes and Mechanistic Insights.

Herein, we report the synthesis of seleno-substituted chromenes from selenoalkynes and phenols. In this cascade reaction, the applied gold catalyst not only functions as a π-acid, but also as a Lewis acid, enabling the propargylic substitution in the first step to connect the oxygen carbon bond. Under the optimal reaction condition a total of 26 chromenes were accessible by this modular access.

Logics of career choice - concept and results of an approval-sensitive career guidance workshop.

To manage the transition from school to work, young people need to learn about occupations, explore their own (professional) interests, skills and values, and make career-related decisions. According to Gottfredson's Career Construction (CC) theory (1981), young people - influenced by their need for social approval - have already narrowed down their spectrum of acceptable occupations by the time they participate in school-based career orientation programs. Therefore, we focus on career guidance interventions that take into account their need for social approval.

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Background: Exploring the expression of X linked disorders like haemophilia A (HA) in females involves understanding the balance achieved through X chromosome inactivation (XCI). Skewed XCI (SXCI) may be involved in symptomatic HA carriers. We aimed to develop an approach for dissecting the specific cause of SXCI and verify its value in HA.

Is neurodevelopment impaired in Brazilian children with intestinal failure on prolonged parenteral nutrition? A single center study.

Purpose: To assess the neurodevelopment outcomes of children younger than 42 months of age with intestinal failure (IF) using prolonged parenteral nutrition (PN) followed by a Pediatric Multidisciplinary Intestinal Rehabilitation Program from a public tertiary hospital in Brazil.

Methods: Bayley III scale was administered in children aged 2 to 42 months with IF and receiving PN for more than 60 days. Composite scores in cognitive, motor, and language domains were analyzed.

Manganese exposure from spring and well waters in the Shenandoah Valley: interplay of aquifer lithology, soil composition, and redox conditions.

Manganese (Mn) is of particular concern in groundwater, as low-level chronic exposure to aqueous Mn concentrations in drinking water can result in a variety of health and neurodevelopmental effects. Much of the global population relies on drinking water sourced from karst aquifers. Thus, we seek to assess the relative risk of Mn contamination in karst by investigating the Shenandoah Valley, VA region, as it is underlain by both karst and non-karst aquifers and much of the population relies on water wells and spring water.

Effect of Ultramarathon Trail Running at Sea Level and Altitude on Alveolar-Capillary Function and Lung Diffusion.

Introduction: Endurance exercise at altitude can increase cardiac output and pulmonary vascular pressure to levels that may exceed the stress tolerability of the alveolar-capillary unit. This study examined the effect of ultramarathon trail racing at different altitudes (ranging from <1000 m to between 1500 and 2700 m) on alveolar-capillary recruitment and lung diffusion.

Methods: Cardiac and lung function were examined before and after an ultramarathon in 67 runners (age: 41 ± 9 yr, body mass index: 23 ± 2 kg·m -2 , 10 females), and following 12-24 h of recovery in a subset ( n = 27).

Analysis of the air stream flow parameters generated by the positive pressure ventilator-full scale experiment and CFD simulation.

Positioning the positive pressure ventilator in front of the door opening affects the effectiveness of the rescue operation carried out during a fire. An important factor determining the effectiveness of the positive pressure ventilator is also the layout of the rooms within the gas exchange path and the obstacles present there. The purpose of this article is to assess the feasibility of using analyses such as large eddy simulation (LES) to verify the efficiency of mobile fans under simulation conditions, without the need for time-consuming experimentation (also for complex room volumes of buildings).

Metabolic insights at the finish line: deciphering physiological changes in ultramarathon runners through breath VOC analysis.

Exhaustive exercise can induce unique physiological responses in the lungs and other parts of the human body. The volatile organic compounds (VOCs) in exhaled breath are ideal for studying the effects of exhaustive exercise on the lungs due to the proximity of the breath matrix to the respiratory tract. As breath VOCs can originate from the bloodstream, changes in abundance should also indicate broader physiological effects of exhaustive exercise on the body.

The Parallel Pandemic: A Systematic Review on the Effects of the COVID-19 Pandemic on OCD among Children and Adolescents.

The COVID-19 pandemic and the accompanying social changes severely impacted mental health globally. Children and adolescents may have been vulnerable to adverse mental health outcomes, especially obsessive-compulsive disorder (OCD), due to their underdeveloped resilience and coping skills stemming from their progressing physical and psychological development. Few studies have explored the parallels between the pandemic and OCD trends in this population.

Expression of genes potentially involved in loss of response in patients with chronic myeloid leukemia.

Chronic Myeloid Leukemia (CML) is a hematological malignancy characterized by the presence of the BCR::ABL1 fusion gene, which leads to uncontrolled cell growth and survival. Tyrosine kinase inhibitors (TKIs) have revolutionized the treatment of CML, but a significant proportion of patients develop resistance or lose response to these drugs. Understanding the molecular mechanisms underlying treatment response and resistance is crucial for improving patient outcomes.

One-year follow-up of children hospitalized with COVID-19: a prospective cohort study.

Objective: Currently, little is known about the long-term outcomes of COVID-19 in the pediatric population. The aim of this study was to investigate the long-term clinical outcomes of pediatric patients hospitalized with COVID-19.

Methods: This was a prospective cohort study involving unvaccinated children and adolescents admitted to a tertiary hospital in southern Brazil with a COVID-19 diagnosis.

TRIM28 inactivation in epithelial nephroblastoma is frequent and often associated with predisposing TRIM28 germline variants.

Wilms tumors (WTs) are histologically diverse childhood cancers with variable contributions of blastema, stroma, and epithelia. A variety of cancer genes operate in WTs, including the tripartite-motif-containing-28 gene (TRIM28). Case reports and small case series suggest that TRIM28 mutations are associated with epithelial morphology and WT predisposition.

Effects of an early rehabilitation program for adult cystic fibrosis patients during hospitalization: a randomized clinical trial.

There is little information on pulmonary rehabilitation in patients with cystic fibrosis (CF) with pulmonary exacerbation. This study aimed to evaluate the effects of an early rehabilitation program on lung function, muscle strength, inflammatory markers, and quality of life in adults with CF hospitalized for pulmonary exacerbation. In this randomized controlled trial, 19 patients were included in the intervention group and 15 in the control group.

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Introduction: Haemophilia B (HB) is associated with pathogenic variants in F9. Hemizygous deletions encompassing the entire F9 and proximate genes may express extra-haematological clinical phenotypes.

Aim: To analyse the genotype/phenotype correlations in two unrelated boys with severe early childhood obesity (SCO), global developmental delay (GDD) and similar bleeding phenotype associated with comparable Xq27 deletions spanning the entire F9 and proximate genes, and characterise the pathogenic events estimating the most likely mutational mechanism involved.

Association between rectus femoris cross-sectional area and diaphragmatic excursion with weaning of tracheostomized patients in the intensive care unit.

Objective: To verify the relationship between the rectus femoris cross-sectional area and diaphragmatic excursion with successful weaning from mechanical ventilation in chronic critically tracheostomized patients.

Methods: This was a prospective observational cohort study. We included chronic critically ill patients (those who underwent tracheostomy placement after 10 days under mechanical ventilation).

Functional status of hospitalized pediatric patients with COVID-19 in southern Brazil: a prospective cohort study.

Objective: The present study aimed to assess the functional status of children diagnosed with COVID-19 at the time of hospitalization and the associations with clinical features.

Methods: This prospective cohort study was carried out with children diagnosed with COVID-19 admitted to a tertiary hospital. The patients' functioning was assessed using the pediatric Functional Status Scale (FSS).

Influence of rapidly oscillating inspired O and N concentrations on pulmonary vascular function and lung fluid balance in healthy adults.

Aircrew may experience rapidly oscillating inspired O2/N2 ratios owing to fluctuations in the on-board oxygen delivery systems (OBOG). Recent investigations suggest these oscillations may contribute to the constellation of physiologic events in aircrew of high-performance aircraft. Therefore, the purpose of this study was to determine whether these "operationally-relevant" environmental challenges may cause decrements in measures of pulmonary vascular physiology.