Heterozygous missense mutation of the fibrinogen gene associated with cryptogenic liver disease in a 15-months-old Canadian caucasian child.

Hepatic fibrinogen storage disease is an uncommon autosomal dominant hereditary illness marked by hypofibrinogenemia and the accumulation of variant fibrinogen in the hepatic endoplasmic reticulum. We present an asymptomatic 15-month-old male with elevated liver enzymes. Test results indicate hypofibrinogenemia.

Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?

Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic pathway for patients suspected of having a rare genetic disease.

Methods: Data collected retrospectively from 305 patients suspected of having a rare genetic disease (RGD), who received clinical-grade ES and participated in the Canadian multicentre Care4Rare-SOLVE study, informed a discrete event simulation of the diagnostic pathway.

RICTOR variants are associated with neurodevelopmental disorders.

RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.

Towards a histological diagnosis of childhood small vessel CNS vasculitis.

Background: Primary small vessel CNS vasculitis (sv-cPACNS) is a challenging inflammatory brain disease in children. Brain biopsy is mandatory to confirm the diagnosis. This study aims to develop and validate a histological scoring tool for diagnosing small vessel CNS vasculitis.

Complications that arise with nasogastric tubes after hospitalization in the pediatric population: A mixed methods systematic review.

Children use nasogastric tubes (NGTs) to ensure optimum nutrition and medication delivery when oral feeding fails or when they experience faltering growth. Although this method is less invasive, children may experience complications associated with NGTs. There is a gap in the literature regarding the types and prevention of complications of NGTs in the pediatric population at home.

Assessing the impact of the iPeer2Peer program for adolescents with juvenile idiopathic arthritis: a mixed-methods randomized controlled trial.

Background: Juvenile Idiopathic Arthritis (JIA) is a chronic pediatric illness, whereby youth experience physical, emotional and psychosocial challenges that result in reduced health related quality of life (HRQL). Peer mentoring has been shown to improve disease self-management in adults with chronic conditions, with mixed results in younger populations. Building on our pilot work - which supported the feasibility and initial effectiveness of the iPeer2Peer program - the objective of this study was to assess the clinical effectiveness of the program in youth with JIA through a waitlist randomized controlled trial.

Sensory neuropathy in patients with Pompe disease: a case series in Iran.

Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.

Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.

Global proteomics reveals pathways of mesenchymal stem cells altered by Mycobacterium tuberculosis.

Mycobacterium tuberculosis (M. tb) has a remarkable ability to persist inside host cells. Several studies showed that M.

Reasoning and interpretation cognitive biases related to psychotic characteristics: An umbrella-review.

Cognitive biases have been studied in relation to schizophrenia and psychosis for over 50 years. Yet, the quality of the evidence linking cognitive biases and psychosis is not entirely clear. This umbrella-review examines the quality of the evidence and summarizes the effect sizes of the reasoning and interpretation cognitive biases studied in relation to psychotic characteristics (psychotic disorders, psychotic symptoms, psychotic-like experiences or psychosis risk).

Early engraftment and immune kinetics following allogeneic transplant using a novel reduced-toxicity transplant strategy in children/adolescents with high-risk transfusion-dependent thalassemia: Early results of the ThalFAbS trial.

Background: Allogeneic transplant for patients with transfusion-dependent thalassemia is challenging once there has been iron overload and chronic transfusion support.

Objective(s): A transplant strategy that reduced intensity of the preparative regimen and tailored immunosuppression to both support donor engraftment and prevent GVHD was developed for this population. The combination of a pretransplant immunosuppression phase with reduced dosing of fludarabine/prednisone, treosulfan-based preparative regimen with reduced cyclophosphamide dosing, and introduction of a calcineurin/methotrexate-free GVHD prophylaxis/engraftment supporting regimen with abatacept/sirolimus/ATG was tested.

Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.

Background: Systemic juvenile idiopathic arthritis-related lung disease (sJIA-LD) is a severe complication in patients with treatment-refractory systemic juvenile idiopathic arthritis (sJIA). The objective of this study was to evaluate the effect of allogeneic haematopoietic stem-cell transplantation (HSCT) in a cohort of children with sJIA-LD.

Methods: This international, retrospective cohort study was performed in nine hospitals across the USA and Europe in children with sJIA-LD who had received allogeneic HSCT.

Building global collaborative research networks in paediatric critical care: a roadmap.

Paediatric critical care units are designed for children at a vulnerable stage of development, yet the evidence base for practice and policy in paediatric critical care remains scarce. In this Health Policy, we present a roadmap providing strategic guidance for international paediatric critical care trials. We convened a multidisciplinary group of 32 paediatric critical care experts from six continents representing paediatric critical care research networks and groups.

Geocultural differences in pre-schooler sleep profiles and family practices: an analysis of pooled data from 37 countries.

Study Objectives: To examine 1) multidimensional sleep profiles in pre-schoolers (3-6 years) across geocultural regions and 2) differences in sleep characteristics and family practices between Majority World regions (Pacific Islands, Sub-Saharan Africa, Eastern Europe, Northeast Asia, Southeast Asia, South Asia, the Middle East and North Africa, Latin America) and the Minority World (the Western world).

Methods: Participants were 3507 pre-schoolers from 37 countries. Nighttime sleep characteristics and nap duration (accelerometer: n=1950) and family practices (parental questionnaire) were measured.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.

Psychosocial needs and outcomes of adults with spina bifida: A scoping review, 1974-2023.

Limited evidence exists that serves to guide the field of practice and research pertaining to the long-term issues and needs of adults with spina bifida. Understanding the lived experience of adults with spina bifida has lagged behind considerably resulting in limited evidence-based guidance for individuals with spina bifida and their families and the health care professionals who provide services to this population. Given the paucity of knowledge of the lived experience as it pertains to adulthood, this scoping review was undertaken.

Bolstering connectedness through peer support: Randomized-controlled trial of a web-based peer support program for adolescents with inflammatory bowel disease.

Background: Inflammatory bowel disease (IBD) is a chronic autoimmune disease often diagnosed during adolescence. IBD negatively impacts all aspects of health-related quality of life, resulting in physical, emotional, social, school, and work functioning challenges. Adolescents have identified the need for peer support in managing their disease and promoting positive health outcomes.

Associations between mental health conditions in pregnancy and maternal socioeconomic status: a population-based retrospective cohort study in Ontario, Canada.

Background: The World Health Organization has recognized maternal mental illness as an emerging issue. Previous studies have indicated that maternal mental illness is associated with socioeconomic status (SES). However, there is a lack of research concerning the mental health of pregnant people with low SES in Ontario, Canada.

A New Perspective on Drugs for Duchenne Muscular Dystrophy: Proposals for Better Respiratory Outcomes and Improved Regulatory Pathways.

New drugs for Duchenne muscular dystrophy (DMD) are emerging rapidly. However, we and others believe these drugs are achieving regulatory approval prematurely. It is the cardiorespiratory complications of DMD that cause the disease's major morbidities and that determine survival.

Introduction to immunology and immune disorders.

The body has a collection of physical barriers to prevent infection, but once these are overcome, we rely on our immune systems to protect us against a wide variety of infections. The complex mechanisms through which this is achieved are grouped into two lines of defense called the "innate" and "adaptive" immune systems. The innate immune system provides a rapid and tailored response to infection or injury often associated with inflammation.