Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Resource use and disease severity of children hospitalized for COVID-19 versus multisystem inflammatory syndrome in children (MIS-C) in Canada.

Background: Direct comparisons of paediatric hospitalizations for acute coronavirus disease 2019 (COVID-19) and multisystem inflammatory syndrome in children (MIS-C) can inform health system planning. We describe the absolute and relative hospital burden of acute paediatric COVID-19 and MIS-C in Canada.

Methods: This national prospective study was conducted via the Canadian Paediatric Surveillance Program from March 2020-May 2021.

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of , , or in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L).

Canadian Rheumatology Association Recommendations for the Screening, Monitoring, and Treatment of Juvenile Idiopathic Arthritis-Associated Uveitis.

Objective: To develop Canadian recommendations for the screening, monitoring, and treatment of uveitis associated with juvenile idiopathic arthritis (JIA).

Methods: Recommendations were developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE)-ADOLOPMENT approach. A working group of 14 pediatric rheumatologists, 6 ophthalmologists, 2 methodologists, and 3 caregiver/patient representatives reviewed recent American College of Rheumatology (ACR)/Arthritis Foundation (AF) recommendations and worked in pairs to develop evidence-to-decision (EtD) tables.

Pernio as the clinical presentation of celiac disease: A case report.

We present the case of a 12-year-old girl with severe pernio as the sole clinical presentation of celiac disease (CD), without associated gastrointestinal symptoms. Lesions greatly improved once a gluten free diet was initiated. At 5-year follow-up, she remains in clinical remission throughout the year with no pharmacological treatment, without skin lesions flare-up in the winter months.

Rethinking programme evaluation in health professions education: beyond 'did it work?'.

Context: For nearly 40 years, outcome-based models have dominated programme evaluation in health professions education. However, there is increasing recognition that these models cannot address the complexities of the health professions context and studies employing alternative evaluation approaches that are appearing in the literature. A similar paradigm shift occurred over 50 years ago in the broader discipline of programme evaluation.

Vaccination coverage in children with juvenile idiopathic arthritis followed at a paediatric tertiary care centre.

Objective: To evaluate the vaccination coverage rate of patients with JIA followed at a paediatric tertiary care centre and to determine the coverage rate for individual vaccines required as per the Quebec Immunization Protocol.

Methods: Consecutive JIA patients coming for their scheduled visit were included if they were between 2 and 18 years of age and if they had an available written immunization record. Descriptive statistics were used to evaluate the proportion of children with complete vaccination status according to the Quebec Immunization Protocol at 2.

The application of the challenge point framework in medical education.

Objectives: The current paper describes a model of learning that has been used to produce efficient learning, thus yielding greater retention of information and superior performance under stress. In this paper, the model is applied to the learning of technical skills.

Structure: After a brief review of the learning-performance paradox and other relevant literature from the field of movement science, the benefits of challenge and adversity for learning are discussed in the context of a framework for learning known as the challenge point framework (CPF).

Evaluating pain education programs: an integrated approach.

Evaluation of educational programs and assessment of learning are essential to maintain high-standard health science education, which includes pain education. Current models of program evaluations applied to the education of the health professions, such as the Kirkpatrick model, are mainly outcome based. More recently, efforts have been made to examine other process-based models such as the Context Input Process Product model.

Solitary tumefactive demyelinating lesions in children.

Solitary tumefactive demyelination is rare in children, and the diagnosis is often conferred after brain biopsy. The authors report 3 children with solitary tumefactive demyelination and provide clinical and paraclinical clues to aid the clinician in reaching a diagnosis using a noninvasive approach.