Goldfish phenomics reveals commonalities and a lack of universality in the domestication process for ornamentation.

Domestication process effects are manifold, affecting genotype and phenotype, and assumed to be universal in animals by part of the scientific community. While mammals and birds have been thoroughly investigated, from taming to intensive selective breeding, fish domestication remains comparatively unstudied. The most widely bred and traded ornamental fish species worldwide, the goldfish, underwent the effect of long-term artificial selection on differing skeletal and soft tissue modules through ornamental domestication.

Childhood interstitial lung disease survivors in adulthood: a European collaborative study.

Background: Interstitial lung disease (ILD) is rarer in children (chILD) than adults, but with increasing diagnostic awareness, more cases are being discovered. chILD prognosis is often poor, but increasing numbers are now surviving into adulthood.

Aim: To characterize chILD-survivors and identify their impact on adult-ILD centers.

PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases.

Advances in genetic testing over the past decades are driving a continuing increase in the diagnosis and reporting of rare genetic diseases, but no tool has yet been developed to aggregate published molecular and phenotypic data, a task that is nevertheless essential to optimize patient care. In this article, we present PytheasDB, an online database of published clinical data from patients with rare digestive diseases. At the time of writing (August 2024), the database contains data from 833 patients with progressive familial intrahepatic cholestasis or trichohepatoenteric syndrome, collected from 172 articles.

Realizing the entanglement Hamiltonian of a topological quantum Hall system.

Topological quantum many-body systems are characterized by a hidden order encoded in the entanglement between their constituents. While entanglement is often quantified using the entanglement entropy, its full description relies on the entanglement Hamiltonian, which is commonly used to identify complex phases arising in numerical simulations, but whose measurement remains an outstanding challenge. Here, we map entanglement to spectral properties by realizing a physical system whose single-particle dynamics is governed by the entanglement Hamiltonian of a quantum Hall system.

An incidental finding of a pleural based schwannoma.

A man in his 40s was incidentally found to have a large right sided apical pleural based mass on imaging. This was further investigated with a CT-guided biopsy. Histological and immunohistochemical analysis of the tissue revealed a diagnosis of a Schwannoma: a rare, slow-growing benign nerve sheath tumour.

Spatial proteomics and transcriptomics of the maternal-fetal interface in placenta accreta spectrum.

In severe Placenta Accreta Spectrum (PAS), trophoblasts gain deep access in the myometrium (placenta increta). This study investigated alterations at the fetal-maternal interface in PAS cases using a systems biology approach consisting of immunohistochemistry, spatial transcriptomics and proteomics. We identified spatial variation in the distribution of CD4, CD3 and CD8 T-cells at the maternal-interface in placenta increta cases.

Quality of life of chronically ill children and adolescents: a cross-sectional study.

Objective: The aim of this study was to describe the quality of life (QoL) of children with a chronic illness treated in a tertiary multidisciplinary pediatric department in comparison with the general population.

Study Design: A cross-sectional study was conducted in the tertiary multidisciplinary (nephrology, hepatogastroenterology, endocrinology, diabetology, transplantation) pediatric department of Timone Hospital in Marseille, France. Patients 8-17 years of age with a chronic disease were included during regular follow-up appointments.

Spatial transcriptomic validation of a biomimetic model of fibrosis enables re-evaluation of a therapeutic antibody targeting LOXL2.

Matrix stiffening by lysyl oxidase-like 2 (LOXL2)-mediated collagen cross-linking is proposed as a core feedforward mechanism that promotes fibrogenesis. Failure in clinical trials of simtuzumab (the humanized version of AB0023, a monoclonal antibody against human LOXL2) suggested that targeting LOXL2 may not have disease relevance; however, target engagement was not directly evaluated. We compare the spatial transcriptome of active human lung fibrogenesis sites with different human cell culture models to identify a disease-relevant model.

Weight-specific normal liver stiffness values in children.

Background: Two-dimensional (2-D) shear wave elastography is a commonly used sonographic elastography method for the noninvasive measurement of liver stiffness. There is little liver stiffness data available in the pediatric population and its association with the child's weight is scarce.

Objective: The principal aim of our study was to determine weight-specific reference liver stiffness values in a pediatric population free of liver disease.

SARS-CoV-2 Seropositivity in Urban Population of Wild Fallow Deer, Dublin, Ireland, 2020-2022.

SARS-CoV-2 can infect wildlife, and SARS-CoV-2 variants of concern might expand into novel animal reservoirs, potentially by reverse zoonosis. White-tailed deer and mule deer of North America are the only deer species in which SARS-CoV-2 has been documented, raising the question of whether other reservoir species exist. We report cases of SARS-CoV-2 seropositivity in a fallow deer population located in Dublin, Ireland.

SARS-CoV-2 infects neurons, astrocytes, choroid plexus epithelial cells and pericytes of the human central nervous system .

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection is associated with neurological sequelae including haemorrhage, thrombosis and ischaemic necrosis and encephalitis. However, the mechanism by which this occurs is unclear. Neurological disease associated with COVID-19 has been proposed to occur following direct infection of the central nervous system and/or indirectly by local or systemic immune activation.

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging.

Neutrophil-Derived Peptidyl Arginine Deiminase Activity Contributes to Pulmonary Emphysema by Enhancing Elastin Degradation.

In chronic obstructive pulmonary disease (COPD), inflammation gives rise to protease-mediated degradation of the key extracellular matrix protein, elastin, which causes irreversible loss of pulmonary function. Intervention against proteolysis has met with limited success in COPD, due in part to our incomplete understanding of the mechanisms that underlie disease pathogenesis. Peptidyl arginine deiminase (PAD) enzymes are a known modifier of proteolytic susceptibility, but their involvement in COPD in the lungs of affected individuals is underexplored.

Pulmonary Manifestations of Sjögren's Disease.

Sjögren's disease (SjD) is a chronic, progressive autoimmune condition of exocrine and extraglandular tissues. It can present with isolated disease characterized by lymphocytic infiltration of salivary or lacrimal glands, but in approximately one-third of the patients, lymphocytic infiltration extends beyond exocrine glands to involve extraglandular organs such as the lungs. Pulmonary complications have been reported to occur between 9 and 27% of patients with SjD across studies.

Realization of an atomic quantum Hall system in four dimensions.

Modern condensed matter physics relies on the concept of topology to classify matter, from quantum Hall systems to topological insulators. Engineered systems, benefiting from synthetic dimensions, can potentially give access to topological states predicted in dimensions > 3. We report the realization of an atomic quantum Hall system evolving in four dimensions (4D), with two spatial dimensions and two synthetic ones encoded in the large spin of dysprosium atoms.

Weight loss with GLP-1 analogues in preparation for transplantation.

This case describes a woman in her 20s with a 6-month history of progressive exertional dyspnoea and cough. Examination revealed hypoxia on room air, sinus tachycardia, finger clubbing and bibasal inspiratory crackles. Inflammatory markers were mildly elevated and empirical antimicrobial therapy was commenced.

mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.

https://bit.ly/3QcsYwM.

Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).

Even though deficits in social cognition constitute a core characteristic of autism spectrum disorders, a large heterogeneity exists regarding individual social performances and its neural basis remains poorly investigated. Here, we used eye-tracking to objectively measure interindividual variability in social perception and its correlation with white matter microstructure, measured with diffusion tensor imaging MRI, in 25 children with autism spectrum disorder (8.5 ± 3.

ERS/ESTS/ESTRO/ESR/ESTI/EFOMP statement on management of incidental findings from low dose CT screening for lung cancer.

Background: Screening for lung cancer with low radiation dose computed tomography has a strong evidence base, is being introduced in several European countries and is recommended as a new targeted cancer screening programme. The imperative now is to ensure that implementation follows an evidence-based process that will ensure clinical and cost effectiveness. This European Respiratory Society (ERS) task force was formed to provide an expert consensus for the management of incidental findings which can be adapted and followed during implementation.