Human genetics of Whipple's disease.

Purpose Of Review: Whipple's disease (WD), triggered by Tropheryma whipplei ( T. whipplei ), is a rare, chronic, inflammatory, systemic infectious disease that typically manifests in adults. The most frequent initial manifestations include arthritis, followed by diarrhea, abdominal pain, and weight loss.

Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study.

Background: Suppressor of cytokine signalling 1 (SOCS1) insufficiency is an inborn error of immunity affecting the negative regulation of cytokine and growth factor signalling. We aimed to enhance the understanding of clinical manifestations, disease trajectories, disease penetrance, and the effect of Janus kinase (JAK) inhibition in individuals with SOCS1 insufficiency.

Methods: This study used data from two independent cohorts: the European Society for Immunodeficiencies (ESID) registry and the UK Biobank.

Otitides: Acute and Chronic Otitis Media and Externa.

Otitis media and otitis externa are common ear conditions affecting individuals of all ages. Symptoms can range from mild to severe ear pain. These conditions result from infections, immune responses, and environmental factors.

Angiotensin-(1-9) Improves the Cardioprotective Effects of Del Nido Cardioplegia Against Ischemia/Reperfusion Injury.

Del Nido cardioplegia (DNC), a blood-and-crystalloid solution containing high and low concentrations of potassium and calcium, respectively, is used as a single-dose antegrade infusion to induce immediate cardiac arrest in the surgery of patients with cardiovascular diseases requiring extracorporeal circulation. Adding cardioprotective molecules may further reduce the damage-triggered ischemia/reperfusion (I/R) injury. Angiotensin-(1-9) (Ang-(1-9)) and angiotensin-(1-7) (Ang-(1-7)), members of the counter-regulatory renin-angiotensin system, have shown cardioprotective effects in cardiac hypertrophy and I/R models.

Tactical critical thinking program on the tactical efficiency index, declarative and procedural knowledge in male soccer players: a case study.

Introduction: The purpose of this study was to explore the implications of the in-field implementation of a teaching strategy that promotes critical thinking (TPCT) on tactical ability, declarative, and procedural knowledge. The TPCT is grounded in socio-constructivist theory and aims to enhance players' analytical skills through inquiry, problem-solving, and observation. By emphasizing the socio-constructivist approach, the program fosters skills such as interpretation, analysis, inference, evaluation, explanation, and self-regulation, encouraging players' active participation in questioning and collaborative problem-solving activities.

Key features and guidelines for the application of microbial alpha diversity metrics.

Studies of microbial communities vary widely in terms of analysis methods. In this growing field, the wide variety of diversity measures and lack of consistency make it harder to compare different studies. Most existing alpha diversity metrics are inherited from other disciplines and their assumptions are not always directly meaningful or true for microbiome data.

The monogenic landscape of human infectious diseases.

The spectrum of known monogenic inborn errors of immunity is growing, with certain disorders underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.

Long-term monitoring of woody plants of Doñana shrublands (SW Spain) from 2008 to 2023.

Background: The long-term monitoring of the plant cover of Doñana shrublands is part of a harmonised protocol for the Long-term Ecological Monitoring Programme of Natural Resources and Processes targeting Terrestrial Vegetation. The general aim of this protocol is to monitor and assess the dynamics and trends of shrubland plant communities in Doñana. For shrublands, percentage cover is recorded annually, starting in 2008, by the Doñana Long-Term Monitoring Team in one field sampling campaign per year during the flowering season (between March and May) across 21 permanent square plots (15 m x 15 m).

Separate sites of action for cry1 and phot1 blue-light receptors in the Arabidopsis hypocotyl.

Rapid cell expansion pushes the Arabidopsis hypocotyl (juvenile stem) through the soil until blue light, acting first through phototropin 1 (phot1) and then through cryptochrome 1 (cry1), suppresses elongation to produce a length characteristic of established, photosynthetically capable seedlings. To determine where these two different blue-light receptors act to suppress hypocotyl elongation, we measured relative elemental growth rate, specifically along the hypocotyl midline at 5-min intervals before and during blue light, using a machine-learning-based image analysis pipeline designed specifically for this kinematic analysis of growth. In darkness, hypocotyl material expanded most rapidly (approximately 4% h) in a broad zone approximately 1 mm below the apical terminus of the hypocotyl (cotyledonary node).

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.

Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing T9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity.

Dirty habits: potential for spread of antibiotic-resistance by black-headed gulls from waste-water treatment plants.

Anthropogenic environments such as wastewater treatment plants (WWTPs) and landfills are sources of antimicrobial resistance (AMR). Black-headed gulls (Chroicocephalus ridibundus) frequently use WWTPs and may be vectors for AMR. We used GPS tracking data for 39 gulls for up to 8 months, combined with a shedding curve, to study sources and dispersal distances of AMR in Iberia.

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than those of healthy individuals and CBL LOF heterozygotes without LOH.

A rare case of superior mesenteric venous and portal vein thrombosis in complicated appendicitis.

Superior mesenteric venous (SMV) thrombosis is a rare complication of severe appendicitis. Early recognition is due to improved imaging modalities, which ultimately lead to more prompt intervention. Despite being an uncommon phenomenon, SMV thrombosis can have complications stemming from venous hypertension, such as gastric and esophageal varices, bowel ischemia, sepsis, and death.