Diabetes Mellitus Associated with Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype.

Maternally inherited diabetes and deafness (MIDD) is a monogenic mitochondrial disorder caused by a pathogenic variant in the MT-TL1 gene encoding for a leucine transfer RNA. We propose a new hypothesis that explains how the MT-TL1 variant causes impaired glucose tolerance and diabetes in MIDD. We suggest that diabetes in MIDD primarily depends on a variable combination of insulin resistance and impaired beta cell function that seems more likely to occur in the presence of high skeletal muscle heteroplasmy and moderate beta cell heteroplasmy for m.

Distribution of Port-Wine Birthmarks and Glaucoma Outcomes in Sturge-Weber Syndrome.

Purpose: To identify which features of Sturge-Weber syndrome (SWS) were most associated with glaucoma onset, severity, and treatment failure at a tertiary care center.

Design: Retrospective cross-sectional study.

Subjects: Children who had SWS with and without glaucoma.

Inflammasome activation links enteric Typhimurium infection to a rapid, cytokine-dependent increase in intestinal mucin release.

The host restricts serovar Typhimurium infection of the gut via inflammasome-dependent sloughing of infected epithelial cells. Here we determined that concurrent caspase 1/11-dependent release of the goblet cell-derived mucin, Muc2, into the intestinal lumen also controls burdens in infected mice. The increased release of mucins from goblet cells in the cecum and nearby proximal colon, and the subsequent thickening of the protective mucus barrier layer in the distal colon, were all dependent on the cytokines interleukin (IL)-18 and IL-22, as deficiencies in either cytokine resulted in reduced mucin secretion.

Socioeconomic status moderates associations between hippocampal development and cognition in preterms.

Objective: The hippocampus plays a critical role in cognitive networks. The anterior hippocampus is vulnerable to early-life stress and socioeconomic status (SES) with alterations persisting beyond childhood. How SES modifies the relationship between early hippocampal development and cognition remains poorly understood.

Safety and feasibility pilot study of continuous low-dose maternal supplemental oxygen in fetal single ventricle heart disease.

Objective: Fetuses with single ventricle physiology (SVP) exhibit reductions in fetal cerebral oxygenation, with associated delays in fetal brain growth and neurodevelopmental outcomes. Maternal supplemental oxygen (MSO) has been proposed to improve fetal brain growth, but current evidence on dosing, candidacy and outcomes is limited. In this pilot study, we evaluated the safety and feasibility of continuous low-dose MSO in the setting of SVP.

Association of factors with childhood asthma and allergic diseases using latent class analysis.

We hypothesize that children characterized by deprived factors have poorer health outcomes. We aim to identify clustering of determinants and estimate risk of early childhood diseases. This 1993-2019 longitudinal cohort study combines three Canadian pediatric cohorts and their families.

Outcomes and characteristics of patients hospitalized for COVID-19 in British Columbia, Ontario and Quebec during the Omicron wave.

Background: Omicron is the current predominant variant of concern of SARS-CoV-2. We hypothesized that vaccination alters outcomes of patients hospitalized with COVID-19 during the Omicron wave and that these patients have different characteristics and outcomes than in previous waves.

Methods: This is a substudy of the Host Response Mediators in Coronavirus (COVID-19) Infection (ARBs CORONA I) trial, which included adults admitted to hospital with acute COVID-19 up to July 2022 from 9 hospitals in British Columbia, Ontario and Quebec.

Choosing Wisely: The Canadian Rheumatology Association Pediatric Committee's List of Items Physicians and Patients Should Question.

Objective: To develop a list of tests or treatments frequently used in pediatric rheumatology practice that may be unnecessary based on existing evidence.

Methods: A Choosing Wisely (CW) working group composed of 16 pediatric rheumatologists, 1 allied health professional, 1 parent, and 1 patient used the Delphi method to generate, rank, and refine a list of tests and treatments that may be unnecessary or harmful. The items with the highest content agreement and perceived impact were presented in a survey to all Canadian Rheumatology Association (CRA) physicians who practice pediatric rheumatology.

Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS).

Objectives: Although hemispheric surgeries are among the most effective procedures for drug-resistant epilepsy (DRE) in the pediatric population, there is a large variability in seizure outcomes at the group level. A recently developed HOPS score provides individualized estimation of likelihood of seizure freedom to complement clinical judgement. The objective of this study was to develop a freely accessible online calculator that accurately predicts the probability of seizure freedom for any patient at 1-, 2-, and 5-years post-hemispherectomy.

Child Neurology: Cortical Malformations in Preterm Infants: Case From a Prospective Cohort.

Malformations of cortical development (MCD) are a rare group of disorders with heterogeneous clinical, neuroimaging, and genetic features. MCD consist of disruptions in the development of the cerebral cortex secondary to genetic, metabolic, infectious, or vascular etiologies. MCD are typically classified by stage of disrupted cortical development as secondary to abnormal: (1) neuronal proliferation or apoptosis, (2) neuronal migration, or (3) postmigrational cortical development.

The Detection, Evaluation, and Management of Dyslipidemia in Children and Adolescents: A Canadian Cardiovascular Society/Canadian Pediatric Cardiology Association Clinical Practice Update.

Atherosclerosis begins in youth and is directly linked with the presence and severity of cardiovascular risk factors, including dyslipidemia. Thus, the timely identification and management of dyslipidemia in childhood might slow atherosclerotic progression and decrease the risk of cardiovascular disease in adulthood. This is particularly true for children with genetic disorders resulting in marked dyslipidemia, including familial hypercholesterolemia, which remains frequently undiagnosed.

Coronary artery augmentation with the right subclavian artery for single coronary artery variants of dextro transposition of the great arteries treated by an arterial switch operation.

Objective: Single coronary artery variants in dextro transposition of the great arteries increase the technical demands of performing coronary translocations during the arterial switch operation (ASO). Coronary augmentation using the right subclavian artery as an interposition graft is a viable option in certain cases. The aim of this study is to describe this operative technique and review outcomes.

A Comparison of International League of Associations for Rheumatology and Pediatric Rheumatology International Trials Organization Classification Systems for Juvenile Idiopathic Arthritis Among Children in a Canadian Arthritis Cohort.

Objective: The aim of the Paediatric Rheumatology International Trials Organisation (PRINTO) juvenile idiopathic arthritis (JIA) classification criteria, which is still in development, is to identify homogeneous groups of JIA patients. This study was undertaken to compare International League of Associations for Rheumatology (ILAR) JIA classification criteria and PRINTO JIA classification criteria using data from the ReACCh-Out (Research in Arthritis in Canadian Children, Emphasizing Outcomes) cohort.

Methods: We used clinicobiologic data recorded within 7 months of diagnosis to assign a diagnosis of JIA and identify subcategories of JIA among 1,228 patients according to the 2 JIA classification systems.

Prevention of disease flares by risk-adapted stratification of therapy withdrawal in juvenile idiopathic arthritis: results from the PREVENT-JIA trial.

Objectives: To investigate the ability of high-sensitivity C-reactive protein (hsCRP) and S100A12 to serve as predictive biomarkers of successful drug withdrawal in children with clinical remission of juvenile idiopathic arthritis (JIA).

Methods: This multicentre trial (PREVENT-JIA) enrolled 119 patients with JIA in clinical remission, and 100 patients reached the intervention phase in which the decision whether to continue or stop treatment was based on S100A12 and hsCRP levels. Patients were monitored for 12 months after stopping medication for flares of disease.

Neurodevelopment and Cognition Across the Lifespan in Patients With Single-Ventricle Physiology: Abnormal Brain Maturation and Accumulation of Brain Injuries.

The proportion of adults with single-ventricle physiology (SVP) has significantly increased over time. Improved longevity, however, may be associated with increased risks to brain health in adulthood. Children with SVP are at risk for neurodevelopmental impairment early in life and neurocognitive impairment as they age, and existing epidemiologic evidence suggests that adults with complex congenital heart disease, including SVP, are at increased risk of stroke and dementia, as compared with age-matched controls.

Hip Surveillance for Children with Cerebral Palsy: A Survey of Orthopaedic Surgeons in India.

Background: The purpose of this study was to assess Indian orthopaedic surgeons' current practices and beliefs regarding hip surveillance for children with cerebral palsy (CP), to determine potential support for developing hip surveillance guidelines, and to identify knowledge gaps and key obstacles to guideline implementation in India.

Methods: An anonymous, cross-sectional online survey was sent to approximately 350 Paediatric Orthopaedic Society of India (POSI) members who were queried on their practices and beliefs about hip surveillance for children with CP, as well as perceived challenges and requirements for the successful implementation of hip surveillance guidelines in the Indian context.

Results: Out of 107 responses obtained from POSI members, almost all (96.

Incidence and Age- and Sex-Specific Differences in the Clinical Presentation of Children and Adolescents With Avoidant Restrictive Food Intake Disorder.

Importance: To our knowledge, this is the first pediatric surveillance study of children and adolescents with avoidant restrictive food intake disorder (ARFID).

Objectives: To examine the incidence and age- and sex-specific differences in the clinical presentation of ARFID in children and adolescents in Canada.

Design, Setting, And Participants: In this cross-sectional study, patients with ARFID were identified through the Canadian Paediatric Surveillance Program by surveying 2700 Canadian pediatricians monthly from January 1, 2016, to December 31, 2017.

What's for dinner? How Citrobacter rodentium's metabolism helps it thrive in the competitive gut.

Enteric bacterial infections impose a significant and global health burden on society, and their threat is increasing in concert with a rise in antibiotic resistance. There is thus a great need to quickly develop new antimicrobial treatments and interest is growing in targeting pathogen nutrition and metabolism. In this review, we highlight recent research on the metabolism of Citrobacter rodentium, a murine-specific relative of enteropathogenic Escherichia coli (EPEC) and enterohemorrhagic E.

Do Early Infant Feeding Practices and Modifiable Household Behaviors Contribute to Age-Specific Interindividual Variations in Infant Linear Growth? Evidence from a Birth Cohort in Dhaka, Bangladesh.

Background: Causes of infant linear growth faltering in low-income settings remain poorly understood. Identifying age-specific risk factors in observational studies might be influenced by statistical model selection.

Objectives: To estimate associations of selected household factors and infant feeding behaviors within discrete age intervals with interval-specific changes in length-for-age -scores (LAZs) or attained LAZ, using 5 statistical approaches.

Vaccination discourses among chiropractors, naturopaths and homeopaths: A qualitative content analysis of academic literature and Canadian organizational webpages.

Vaccine hesitancy-the reluctance to receive recommended vaccination because of concerns and doubts about vaccines-is recognized as a significant threat to the success of vaccination programs and has been associated with recent major outbreaks of vaccine-preventable diseases. Moreover, the association between complementary and alternative medicine (CAM) use and vaccine hesitancy and/or refusal has been frequently reported in the literature. To date, significant gaps persist in our understanding of contemporary Canadian CAM providers' beliefs regarding vaccination and how socio-professional influences may shape their vaccine-related attitudes and behaviours.