Single breath counting technique to assess pulmonary function: a systematic review and meta-analysis.

Pulmonary function is usually assessed by measuring Vital Capacity (VC) using equipment such as a spirometer or ventilometer, but these are not always available to the population, as they are relatively expensive tests, difficult to transport and require trained professionals. However, the single breath counting technique (SBCT) appears as a possible alternative to respiratory function tests, to help in the pathophysiological understanding of lung diseases. The objective is to verify the applicability of the SBCT as a parameter for evaluating VC.

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.

Background: Alterations in both mitochondrial DNA (mtDNA) and nuclear DNA genes affect mitochondria function, causing a range of liver-based conditions termed mitochondrial hepatopathies (MH), which are subcategorized as mtDNA depletion, RNA translation, mtDNA deletion, and enzymatic disorders. We aim to enhance the understanding of pathogenesis and natural history of MH.

Methods: We analyzed data from patients with MH phenotypes to identify genetic causes, characterize the spectrum of clinical presentation, and determine outcomes.

Plasticity between type 2 innate lymphoid cell subsets and amphiregulin expression regulates epithelial repair in biliary atresia.

Background And Aims: Although a dysregulated type 1 immune response is integral to the pathogenesis of biliary atresia, studies in both humans and mice have uncovered a type 2 response, primarily driven by type 2 innate lymphoid cells. In nonhepatic tissues, natural type 2 innate lymphoid cell (nILC2s) regulate epithelial proliferation and tissue repair, whereas inflammatory ILC2s (iIlC2s) drive tissue inflammation and injury. The aim of this study is to determine the mechanisms used by type 2 innate lymphoid cell (ILC2) subpopulations to regulate biliary epithelial response to an injury.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.

Customized Postoperative Therapy Improves Bile Drainage in Biliary Atresia: A Single Center Preliminary Report.

Background: Controversies in management of biliary atresia (BA) after hepatoportoenterostomy (HPE) lead to variable treatment protocols. We implemented standardized medical management after HPE, customizing the use of antibiotics and corticosteroids based on patient-specific factors.

Methods: In this retrospective analysis, 20 consecutive infants underwent HPE for BA and were compared to a historical cohort.

Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy.

Background And Aims: In biliary atresia, serum bilirubin is commonly used to predict outcomes after Kasai portoenterostomy (KP). Infants with persistently high levels invariably need liver transplant, but those achieving normalized levels have a less certain disease course. We hypothesized that serum bile acid levels could help predict outcomes in the latter group.

Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease.

Background And Aims: Detailed investigation of the biological pathways leading to hepatic fibrosis and identification of liver fibrosis biomarkers may facilitate early interventions for pediatric cholestasis.

Approach And Results: A targeted enzyme-linked immunosorbent assay-based panel of nine biomarkers (lysyl oxidase, tissue inhibitor matrix metalloproteinase (MMP) 1, connective tissue growth factor [CTGF], IL-8, endoglin, periostin, Mac-2-binding protein, MMP-3, and MMP-7) was examined in children with biliary atresia (BA; n = 187), alpha-1 antitrypsin deficiency (A1AT; n = 78), and Alagille syndrome (ALGS; n = 65) and correlated with liver stiffness (LSM) and biochemical measures of liver disease. Median age and LSM were 9 years and 9.

Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases-Examination of cholestatic liver disease in Alagille syndrome.

The conduct of long-term conventional randomized clinical trials in rare diseases is very difficult, making evidenced-based drug development problematic. As a result, real-world data/evidence are being used more frequently to assess new therapeutic approaches in orphan diseases. In this investigation, inclusion and exclusion criteria from a published trial of maralixibat in Alagille syndrome (ALGS, ITCH NCT02057692) were applied to a prospective longitudinal cohort of children with cholestasis (LOGIC NCT00571272) to derive contextual comparator data for evolving clinical trials of intestinal bile acid transport inhibitors in ALGS.

The Liver Biopsy in Neonatal Cholestasis: Just a Cherry on Top?

Content available: Author Audio Recording.

Serum Proteomics Uncovers Biomarkers of Clinical Portal Hypertension in Children With Biliary Atresia.

Children with biliary atresia (BA) often develop portal hypertension (PHT) and its complications, which are associated with high morbidity and mortality. The goal of this study was to identify serum biomarkers of PHT by using large-scale proteomics. We applied the slow off-rate modified aptamer scan (SOMAscan) to measure 1,305 proteins in serum samples of children with BA with and without clinical evidence of PHT in validation and discovery cohorts enrolled in the Biliary Atresia Study of Infants and Children.

Universal school-based intervention targeting depressive symptoms in adolescents: A cluster randomized trial.

We investigated the effects of three different interventions on depressive symptoms in adolescents. As a secondary aim, we explored the mediating role of social isolation, anxiety, sleep quality, and cognitive function of the intervention effect on depressive symptoms. We conducted a cluster randomized controlled trial, in which schools were randomly assigned to 1.

Inter-individual variability in children's physical growth and body composition: Findings of longitudinal ELOS-Pré study.

Background: Children's physical growth (PG) and body composition (BC) can be influenced by birth weight and type of delivery.

Aim: To longitudinally analyze the dynamics of PG and BC of children from 5 to 9 years; to investigate the inter-individual differences according to age, sex, BW, and type of delivery across the following years of the study.

Subjects And Methods: A total of 1236 children (597 boys) were evaluated at 5-years of age and followed annually until 9-years.

The Role of Adiposity in the Association Between Physical Activity and Blood Pressure in Children.

: To analyze whether body adiposity mediates and/or moderates the association between time in moderate-to-vigorous physical activities (MVPA) and blood pressure in children. : This was a cross-sectional study of 577 children aged 5 to 7 years old. MVPA was measured by accelerometry.

Violence and psychosocial stress: A 10-year time trend analysis.

Aim: The aim of this study was to analyze the temporal trend of psychosocial stress and its association between exposure to violence in adolescents.

Methods: This is a cross-sectional study of temporal trends based on three school-based and statewide surveys with regular intervals of five years. The target population consisted of high school students from public schools.

Biliary organoids uncover delayed epithelial development and barrier function in biliary atresia.

Background And Aims: Biliary atresia is a severe inflammatory and fibrosing cholangiopathy of neonates of unknown etiology. The onset of cholestasis at birth implies a prenatal onset of liver dysfunction. Our aim was to investigate the mechanisms linked to abnormal cholangiocyte development.

Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study.

Objectives: The aim of the study was to determine the frequency and natural history of infantile idiopathic cholestasis (IC) in a large, prospective, multicenter cohort of infants.

Methods: We studied 94 cholestatic infants enrolled up to 6 months of age in the NIDDK ChiLDReN (Childhood Liver Disease Research Network) "PROBE" protocol with a final diagnosis of IC; they were followed up to 30 months of age.

Results: Male sex (66/94; 70%), preterm birth (22/90 with data; 24% born at < 37 weeks' gestational age), and low birth weight (25/89; 28% born at <2500 g) were frequent, with no significant differences between outcomes.

Depressive symptoms in older adults: the role of physical activity and social support.

Objective: To evaluate the role of social support in the association between physical activity (PA) in its various domains and depressive symptoms in older adults.

Methods: This was a cross-sectional study involving 399 older adults seen at basic health units in the municipality of Recife, state of Pernambuco, northeastern Brazil. Linear regression was implemented using the forward method to assess the association between PA and its domains and depressive symptoms, as well as to test the possible moderating component of social support in this association.

High Mobility Group Box 1 Release by Cholangiocytes Governs Biliary Atresia Pathogenesis and Correlates With Increases in Afflicted Infants.

Background And Aims: Biliary atresia (BA) is a devastating cholangiopathy of infancy. Upon diagnosis, surgical reconstruction by Kasai hepatoportoenterostomy (HPE) restores biliary drainage in a subset of patients, but most patients develop fibrosis and progress to end-stage liver disease requiring liver transplantation for survival. In the murine model of BA, rhesus rotavirus (RRV) infection of newborn pups results in a cholangiopathy paralleling that of human BA.

A single-cell view of biliary atresia.

A new study elevates our understanding of how the immune system regulates the pathogenesis of biliary atresia through a powerful single-cell approach. Cell-specific transcriptome analyses indicate key roles for macrophages, T cells and B cells in hepatobiliary injury of affected infants.

Autoimmune Hepatitis: Predictors of Native Liver Survival in Children and Adolescents.

Objective: To determine predictors of native liver survival (NLS) in children and adolescents with autoimmune hepatitis (AIH).

Study Design: The medical records of children and adolescents with AIH were reviewed. A questionnaire was used to collect data on clinical presentation, biochemical and histologic findings, and treatment.