Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing. One reason is that pathogenic variants are located in 'novel' deafness genes. A variant prioritization approach was used to identify novel (candidate) genes for HL.

Women in Canada are consuming above the upper intake level of folic acid but few are meeting dietary choline recommendations in the second trimester of pregnancy: data from the CHILD cohort study.

There is concern that during a low-risk pregnancy, women are consuming more than recommended (400 µg/day) supplemental folic acid and may not meet recommendations for other nutrients. The objective of this study was to determine folic acid supplement use and dietary folate intakes in the second trimester (week 18) of pregnancy in women ( = 2996) in the Canadian CHILD cohort study. Vitamin B12 and choline intakes were also assessed because they are metabolically related to folate.

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility.

Claudin-11 plays a critical role in multiple physiological processes, including myelination, auditory function, and spermatogenesis. Recently, stop-loss mutations in have been identified as a novel cause of hypomyelinating leukodystrophy (HLD22). Understanding the multifaceted roles of claudin-11 and the potential pathogenic mechanisms in HLD22 is crucial for devising targeted therapeutic strategies.

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).

Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11.

Dominant negative variants in cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Background: Helios (encoded by ), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4 regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.

Children Aged 5-6 Years in Vancouver, Canada Meet Dietary Recommendations for Folate and Vitamin B12 but not Choline.

Background: Choline, folate, and vitamin B12 are required for growth and development, but there is limited information on the intakes and relationships to biomarkers of status in children.

Objectives: The objective of this study was to determine the choline and B-vitamin intakes and relationship to biomarkers of status in children.

Methods: A cross-sectional study was conducted in children (n = 285, aged 5-6 y) recruited from Metro Vancouver, Canada.

Prevalence, severity, and clinical correlates of food neophobia in Salvadorian youth.

Food neophobia (FN) describes problematic fear-based avoidance/restriction of novel foods. Using the novel parent-reported Measure of Food Neophobia (MFN), the authors examined FN symptoms and impairment in 305 Salvadorian children and explored clinical correlates. Factor analysis supported the MFN's designed structure to inquire about FN symptoms and FN impairment.

Treatment-related weight gain and metabolic complications in children with mental health disorders: potential role for lifestyle interventions.

Over 1 million Canadian children are estimated to have a mental health disorder, which are commonly treated with medications, such as second-generation antipsychotics (SGAs). Estimates suggest that SGA prescriptions to children are increasing in Canada. Although these medications are important and lifesaving components of psychiatric treatment, they are not without side effects.

Comparison of methodologies used to define the protein quality of human foods and support regulatory claims.

Protein quality (PQ) is the capacity of a protein to meet the amino acid (AA) requirements of an individual. There are several methodologies for determining the PQ of foods. The protein efficiency ratio is an animal growth bioassay.

Biomarkers of Docosahexaenoic Acid but Not Arachidonic Acid Reflect Dietary Intakes in Toddlers at Ages 1 and 2 Years Who Are Not Meeting Dietary Recommendations.

Background: Long-chain n-6 and n-3 PUFAs are important for growth and development. However, little is known about requirements and current dietary intakes of these fatty acids in toddlers.

Objectives: This study assessed dietary intakes of n-6 and n-3 PUFAs and determined the relation to circulating PUFAs in toddlers at ages 1 and 2 y.

Pediatric pulse oximetry-based OSA screening at different thresholds of the apnea-hypopnea index with an expression of uncertainty for inconclusive classifications.

Background: Assessments of pediatric obstructive sleep apnea (OSA) are underutilized across Canada due to a lack of resources. Polysomnography (PSG) measures OSA severity through the average number of apnea/hypopnea events per hour (AHI), but is resource intensive and requires a specialized sleep laboratory, which results in long waitlists and delays in OSA detection. Prompt diagnosis and treatment of OSA are crucial for children, as untreated OSA is linked to behavioral deficits, growth failure, and negative cardiovascular consequences.

Risk-Benefit Profile of Gastric vs Transpyloric Feeding in Mechanically Ventilated Patients: A Meta-Analysis.

Background: The risk-benefit profile of transpyloric vs gastric feeding in mechanically ventilated (MV) patients has not been definitively established.

Objective: To evaluate the risks and benefits of transpyloric feeding compared with gastric feeding in mechanically ventilated patients.

Design: We systematically searched MEDLINE, Google Scholar, EMBASE, and the Cochrane Central Register of Controlled Trials databases for eligible articles through June 21, 2013.

Assessment of a Mobile Game ("MobileKids Monster Manor") to Promote Physical Activity Among Children.

Objective: The majority of children in North America are not meeting current physical activity guidelines. The purpose of this study was to evaluate the impact of a mobile phone game ("MobileKids Monster Manor") as a tool to promote voluntary physical activity among children.

Materials And Methods: The game integrates data from an accelerometer-based activity monitor (Tractivity(®); Kineteks Corp.

Development of a screening tool for sleep disordered breathing in children using the phone Oximeter™.

Background: Sleep disordered breathing (SDB) can lead to daytime sleepiness, growth failure and developmental delay in children. Polysomnography (PSG), the gold standard to diagnose SDB, is a highly resource-intensive test, confined to the sleep laboratory.

Aim: To combine the blood oxygen saturation (SpO2) characterization and cardiac modulation, quantified by pulse rate variability (PRV), to identify children with SDB using the Phone Oximeter, a device integrating a pulse oximeter with a smartphone.