Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Returning to Work After Cancer Treatment: An Exploratory Sequential Mixed-Methods Study Guided by Transitions Theory.

Background: Although many individuals return to work after cancer treatment, supports to facilitate this transition are ineffective or lacking. Transitions Theory can be useful to conceptually explain the transition back to work after cancer; however, no known studies have used Transitions Theory to empirically examine this transition.

Objective: To explore how and why Transition Theory concepts can be used to understand individuals' transition back to work after cancer treatment.

Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.

High-energy nuclear collisions create a quark-gluon plasma, whose initial condition and subsequent expansion vary from event to event, impacting the distribution of the eventwise average transverse momentum [P([p_{T}])]. Disentangling the contributions from fluctuations in the nuclear overlap size (geometrical component) and other sources at a fixed size (intrinsic component) remains a challenge. This problem is addressed by measuring the mean, variance, and skewness of P([p_{T}]) in ^{208}Pb+^{208}Pb and ^{129}Xe+^{129}Xe collisions at sqrt[s_{NN}]=5.

Challenges in Breast Pathology: A Review of the Most Common Problems Encountered in a Subspecialty Consult Service Over 1 Year-Retrospective Review of 553 Specimens.

. To identify the most common reasons for consultation to a large specialty breast pathology service at a major institution. To provide insight into the overall challenges in practicing breast pathology.

Learned phenotypes emerge during social stress modifying hippocampal orexin receptor gene expression.

Psychological distress, including anxiety or mood disorders, emanates from the onset of chronic/unpredictable stressful events. Symptoms in the form of maladaptive behaviors are learned and difficult to treat. While the origin of stress-induced disorders seems to be where learning and stress intersect, this relationship and molecular pathways involved remain largely unresolved.

Modelling SARS-CoV-2 infection in a human alveolus microphysiological system.

The coronavirus 2019 pandemic has highlighted the importance of physiologically relevant models to assist preclinical research. Here, we describe the adaptation of a human alveolus microphysiological system (MPS) model consisting of primary human alveolar epithelial and lung microvascular endothelial cells to study infection with SARS-CoV-2 at Biosafety Level 3 facility. This infection model recapitulates breathing-like stretch and culture of epithelial cells at the air-liquid interface and resulted in clinically relevant cytopathic effects including cell rounding of alveolar type 2 cells and disruption of the tight junction protein occludin.

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.

Patient, Caregiver, and Clinician Perspectives on the Time Burdens of Cancer Care.

Importance: Cancer and its care impose significant time commitments on patients and care partners. The oncology community has only recently conceptualized these commitments and the associated burden as the "time toxicity" of cancer care. As the concept gains traction, there is a critical need to fundamentally understand the perspectives of multiple stakeholders on the time burdens of cancer care.

Real-world data: bridging the gap between clinical trials and practice.

Real-world data (RWD) are rapidly emerging sources of information for patients, clinicians and regulators. While randomized controlled trials (RCTs) reduce bias and confounding through the randomization process and provide the highest quality of evidence regarding drug efficacy, RCTs may be impractical or unfeasible for rare diseases or disease subsets. And yet, studies attempting to replicate clinical trial results using observational datasets have failed.

Correction: Cu(i) diimine complexes as immobilised antibacterial photosensitisers operating in water under visible light.

[This corrects the article DOI: 10.1039/D0MA00642D.].

Tools, techniques, and challenges in preparing cytology specimens for ancillary studies: results of the ASC Optimizing Cytology and Small Biopsy Specimen Processing for Ancillary Studies task force survey.

Introduction: Ancillary testing on cytopathology and other small biopsy specimens is crucial for diagnosis and provides critical information to clinicians. Testing is dependent on preanalytic factors and would benefit from standardization of specimen collection protocols across laboratories. To assess institutional practices and areas of need for evidence-based standards, we surveyed current practices across cytopathology laboratories.

Slow Magnetic Relaxation in a Californium Complex.

We report the synthesis and characterization of the macrocyclic californium derivative Na[Cf(HO)(DOTA)] (DOTA = 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetate), , which was studied in comparison to its dysprosium counterpart, Na[Dy(HO)(DOTA)], . Divergent spectroscopic and magnetic behaviors were observed between and . Based upon spectroscopic measurements, we propose that accessible 5f → 6d transitions (potentially operating in tandem with charge-transfer transitions) are the major contributors to the observed broadband photoluminescence in .

BPDCN MYB fusions regulate cell cycle genes, impair differentiation, and induce myeloid-dendritic cell leukemia.

MYB fusions are recurrently found in select cancers, including blastic plasmacytoid DC neoplasm (BPDCN), an acute leukemia with poor prognosis. They are markedly enriched in BPDCN compared with other blood cancers and, in some patients, are the only obvious somatic mutation detected. This suggests that they may alone be sufficient to drive DC transformation.

Search for the Exclusive W Boson Hadronic Decays W^{±}→π^{±}γ, W^{±}→K^{±}γ and W^{±}→ρ^{±}γ with the ATLAS Detector.

A search for the exclusive hadronic decays W^{±}→π^{±}γ, W^{±}→K^{±}γ, and W^{±}→ρ^{±}γ is performed using up to 140  fb^{-1} of proton-proton collisions recorded with the ATLAS detector at a center-of-mass energy of sqrt[s]=13  TeV. If observed, these rare processes would provide a unique test bench for the quantum chromodynamics factorization formalism used to calculate cross sections at colliders. Additionally, at future colliders, these decays could offer a new way to measure the W boson mass through fully reconstructed decay products.

Strength and Environmental Performance Evaluation of Weathered Hydrocarbon Contaminated Soil Treated with Modified Plantain Peels-A Low Carbon Remediation Solution.

This study investigated the structural and environmental recovery of weathered hydrocarbon-contaminated soils using low-carbon solutions and aimed to ascertain the suitability of the remediated soils for engineering purposes. 25% (/) of ground ripe (RPP) and unripe (UPP) waste plantain peels were each added to 1 kg weathered hydrocarbon-contaminated soil samples and monitored for 90 days. Biological, physicochemical, and engineering properties were analysed for all samples in triplicates.

An assessment of cancer centre level designation and guideline adherent care in those with rectal cancer: A population based retrospective cohort study.

Background: Institutions providing care to individuals with cancer are organized based on available resources and treatments offered. It is presumed that increasing levels of care will result in improved quality of care and outcomes. The objective is to determine whether Cancer Level Designation is associated with guideline adherent care and/or survival.

An integrated framework for the study of exercise across the postdiagnosis cancer continuum.

Exercise plays many important roles across the entire cancer continuum that have been described in previous frameworks. These frameworks, however, have generally provided a simplified description of the roles of exercise postdiagnosis. The modern cancer treatment landscape has become complex and often consists of multiple lines of multimodal treatments combined concurrently and/or sequentially and delivered over many months or years.