A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature.

Wiskott-Aldrich syndrome is an X-linked recessive primary immune-deficiency disorder very rarely reported from black African children. A 12-year old boy with recurrent sinopulmonary and diarrheal infections, eczema, thrombocytopenia, and low platelet volume was found by whole genome sequencing to harbor a predicted pathogenic c.1205dupC (p.

No time for complacency: The CoVaRR-Net Biobank is an essential element of laboratory preparedness for infectious disease outbreaks.

The SARS-CoV-2 pandemic highlighted the need for rapid, collaborative, and population-centric research to define health impact, develop health care policies and establish reliable diagnostic and surveillance tests. Critical for these objectives were in-depth clinical data collected in standardized fashion and large numbers of various types of human samples prior and post-viral encounter. As the pandemic evolved with the emergence of new variants of concern (VOCs), access to samples and data from infected and vaccinated individuals were needed to monitor immune durability, the possibility of increased transmissibility and virulence, and vaccine protection against new and emerging VOCs.

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.

In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of "inborn errors of immunity" (IEI) has deduced at least some of these previously enigmatic cases; accordingly, the discovery of single-gene disorders with penetrant clinical effects and their immunologic dissection have provided a framework with which to understand some of the key pathways mediating human susceptibility to mycoses.

A Retrospective Study on the Role of Metformin in Colorectal Cancer Liver Metastases.

Colorectal cancer liver metastases (CRCLMs) have two main histopathological growth patterns (HPGs): desmoplastic (DHGP) and replacement (RHGP). The vascularization in DHGP tumours is angiogenic, while the RHGP tumours exert vessel co-option vasculature. The presence of vessel co-option tumours is associated with poor response to anti-angiogenic agents and chemotherapy, as well as a worse prognosis.

Validation of the Critical-Care Pain Observation Tool (CPOT) in pediatric patients undergoing orthopedic surgery.

Background: Postoperative pain cannot be measured accurately among many children with intellectual and developmental disabilities, resulting in underrecognition or delay in recognition of pain. The Critical-Care Pain Observation Tool (CPOT) is a pain assessment tool that has been widely validated in critically ill and postoperative adults.

Aims: The objective of this study was to validate the CPOT for use with pediatric patients able to self-report and undergoing posterior spinal fusion surgery.

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.

Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, lymphoproliferative disorders, and/or malignancies. An emerging manifestation is susceptibility to fungal disease, caused by yeasts or moulds, in a superficial or invasive fashion. In this review, we describe recent advances in the field of inborn errors of immunity associated with increased susceptibility to fungal disease.

The Psychosocial Characteristics and Somatosensory Function of Children and Adolescents Who Meet the Criteria for Chronic Nociplastic Pain.

Purpose: Nociplastic pain distinguishes individuals with pain and hypersensitivity in body regions with apparently normal tissues, without any signs of neuropathy, but with contribution of central and/or peripheral sensitization. There is a lack of literature describing nociplastic pain in the pediatric population. The objective of this study was to investigate the differences between pediatric patients with nociplastic pain compared with patients with non-nociplastic pain.

Trained immunity and epigenetic memory in long-term self-renewing hematopoietic cells.

Immunologic memory is a feature typically ascribed to the adaptive arm of the immune system. However, recent studies have demonstrated that hematopoietic stem cells (HSCs) and innate immune cells such as monocytes and macrophages can gain epigenetic signatures to enhance their response in the context of reinfection. This suggests the presence of long-term memory, a phenomenon referred to as trained immunity.

Electroencephalographic characteristics of children and adolescents with chronic musculoskeletal pain.

Introduction: The pathophysiology of pediatric musculoskeletal (MSK) pain is unclear, contributing to persistent challenges to its management.

Objectives: This study hypothesizes that children and adolescents with chronic MSK pain (CPs) will show differences in electroencephalography (EEG) features at rest and during thermal pain modalities when compared with age-matched controls.

Methods: One hundred forty-two CP patients and 45 age-matched healthy controls (HCs) underwent a standardized thermal tonic heat and cold stimulations, while a 21-electrode headset collected EEG data.

Exploring perceptions of using preference elicitation methods to inform clinical trial design in rheumatology: A qualitative study and OMERACT collaboration.

Background: Clinical trial design requires value judgements and understanding patient preferences may help inform these judgements, for example when prioritizing treatment candidates, designing complex interventions, selecting appropriate outcomes, determining clinically important thresholds, or weighting composite outcomes. Preference elicitation methods are quantitative approaches that can estimate patients' preferences to quantify the absolute or relative importance of outcomes or other attributes relevant to the decision context. We aimed to explore stakeholder perceptions of using preference elicitation methods to inform judgements when designing clinical trials in rheumatology.

Accurate classification of pain experiences using wearable electroencephalography in adolescents with and without chronic musculoskeletal pain.

Objective: We assessed the potential of using EEG to detect cold thermal pain in adolescents with and without chronic musculoskeletal pain.

Methods: Thirty-nine healthy controls (15.2 ± 2.

Mental health services use and depressive symptom scores among gay and bisexual men in Canada.

Purpose: To evaluate the association between mental health services (MHS) use and depressive symptom scores among gay and bisexual men (GBM) and compare with heterosexual men in Canada.

Methods: We used data from the 2015-2016 cycles of the Canadian Community Health Survey. Depressive symptoms were assessed using the PHQ-9 questionnaire (prior two weeks).

Chronic obstructive pulmonary disease and the modulation of CFTR by acute exposure to cigarette smoke.

Chronic obstructive pulmonary disease (COPD) is a leading cause of death and cigarette smoke is the main risk factor. Detecting its earliest stages and preventing a decline in lung function are key goals. The pathogenesis of COPD is complex but has some similarities to cystic fibrosis (CF), a disease caused by mutations in the gene.

Measuring progress towards reaching zero new HIV acquisitions among key populations in Québec (Canada) using routine surveillance data: a mathematical modelling study.

Introduction: Men who have sex with men (MSM) and people who inject drugs (PWID) are disproportionately impacted by the HIV epidemic in Canada. Having the second-highest provincial diagnosis rate, an improved understanding of the epidemic among these populations in Québec could aid ongoing elimination efforts. We estimated HIV incidence and other epidemic indicators among MSM and PWID in Montréal and across Québec using a back-calculation model synthesizing surveillance data.

Time-related biases in perinatal pharmacoepidemiology: A systematic review of observational studies.

Background: Time-related biases, such as immortal time and time-window bias, frequently occur in pharmacoepidemiologic research. However, the prevalence of these biases in perinatal pharmacoepidemiology is not well understood.

Objective: To describe the frequency of time-related biases in observational studies of medications commonly used during pregnancy (antibiotic, antifungal, and antiemetic drugs) via systematic review.

The role of the classroom learning environment in students' mathematics anxiety: A scoping review.

Background: Math anxiety is a common experience that interferes with learning and achievement in mathematics. Considering that mathematics learning mostly takes place within the classroom, it is critical to examine how math anxiety develops in this context.

Aims: The purpose of the current scoping review was to identify classroom-learning environment factors associated with math anxiety in elementary and high school students.

Experience and Management of the Adverse Effects of Analgesics After Surgery: A Pediatric Patient Perspective.

After surgery, the adverse effects (AEs) of analgesics are common and critical factors influencing the postoperative experience of pediatric patients. Inadequate management of AEs has been found to prolong hospital stay, increase readmission rates and decrease satisfaction with care. The aim of this qualitative descriptive study was to better understand the AEs of analgesics from the perspective of adolescent patients with idiopathic scoliosis after spinal surgery.

Development of a Nuclear Magnetic Resonance Method and a Near Infrared Calibration Model for the Rapid Determination of Lipid Content in the Field Pea ().

is a leguminous crop suitable for cultivation worldwide. It is used as a forage or dried seed supplement in animal feed and, more recently, as a potential non-traditional oilseed. This study aimed to develop a low-cost, rapid, and non-destructive method for analyzing pea lipids with no chemical modifications that would prove superior to existing destructive solvent extraction methods.

Phenotyping Chronic Musculoskeletal Pain in Male and Female Adolescents: Psychosocial Profiles, Somatosensory Profiles and Pain Modulatory Profiles.

Purpose: A major limitation in treatment outcomes for chronic pain is the heterogeneity of the population. Therefore, a personalized approach to the assessment and treatment of children and adolescents with chronic pain conditions is needed. The objective of the study was to subgroup pediatric patients with chronic MSK pain that will be phenotypically different from each other based on their psychosocial profile, somatosensory function, and pain modulation.

Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.

Objective: The aim of this study was to analyze variants of the gene glial cells missing-2 (GCM2), encoding a parathyroid cell-specific transcription factor, in familial hypoparathyroidism and in familial isolated hyperparathyroidism (FIHP) without and with parathyroid carcinoma.

Design: We characterized 2 families with hypoparathyroidism and 19 with FIHP in which we examined the mechanism of action of GCM2 variants.

Methods: Leukocyte DNA of hypoparathyroid individuals was Sanger sequenced for CASR, PTH, GNA11 and GCM2 mutations.

The Application of Preference Elicitation Methods in Clinical Trial Design to Quantify Trade-Offs: A Scoping Review.

Background And Objective: Patients can express preferences for different treatment options in a healthcare context, and these can be measured with quantitative preference elicitation methods.

Objective: Our objective was to conduct a scoping review to determine how preference elicitation methods have been used in the design of clinical trials.

Methods: We conducted a scoping review to identify primary research studies, involving any health condition, that used quantitative preference elicitation methods, including direct utility-based approaches, and stated preference studies, to value health trade-offs in the context of clinical trial design.

Nonspecific binding of common anti-CFTR antibodies in ciliated cells of human airway epithelium.

There is evidence that the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel is highly expressed at the apical pole of ciliated cells in human bronchial epithelium (HBE), however recent studies have detected little CFTR mRNA in those cells. To understand this discrepancy we immunostained well differentiated primary HBE cells using CFTR antibodies. We confirmed apical immunofluorescence in ciliated cells and quantified the covariance of the fluorescence signals and that of an antibody against the ciliary marker centrin-2 using image cross-correlation spectroscopy (ICCS).

Inhibition of LPS-mediated TLR4 activation abrogates gastric adenocarcinoma-associated peritoneal metastasis.

Surgical resection, the cornerstone of curative intent treatment for gastric adenocarcinoma, is associated with a high rate of infection-related post-operative complications, leading to an increased incidence of metastasis to the peritoneum. However, the mechanisms underlying this process are poorly understood. Lipopolysaccharide (LPS), an antigen from Gram-negative bacteria, represents a potential mechanism via induction of local and systemic inflammation through activation of Toll-like receptor (TLR).