A5000498682- Diabetes Management and Education
- Diabetes Management and Research
- Diabetes and associated disorders
- Childhood Cancer Survivors' Quality of Life
- Chronic Disease Management Strategies
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Disorders and Treatments
- Adrenal Hormones and Disorders
- Acute Lymphoblastic Leukemia research
- Autoimmune and Inflammatory Disorders Research
- Pancreatic function and diabetes
- Bone health and osteoporosis research
- Obesity and Health Practices
- Sexual Differentiation and Disorders
- Diet and metabolism studies
- Primary Care and Health Outcomes
- Systemic Lupus Erythematosus Research
- Adolescent and Pediatric Healthcare
- Bone and Joint Diseases
- Hormonal Regulation and Hypertension
- Health Promotion and Cardiovascular Prevention
- School Health and Nursing Education
- Housing Market and Economics
- Bone fractures and treatments
- Hip and Femur Fractures
University of Alberta
2009-2021
Stollery Children's Hospital
2003-2021
Women and Children’s Health Research Institute
2017
University of British Columbia
1990-2015
University of Ottawa
2012-2015
McGill University
2012-2015
Brock University
2012-2015
University of Calgary
2015
Dalhousie University
2015
University of Manitoba
2015
We recently implicated two recurrent somatic mutations in an adrenal potassium channel, KCNJ5, as a cause of aldosterone-producing adenomas (APAs) and one inherited KCNJ5 mutation Mendelian form early severe hypertension with massive hyperplasia. The identified all altered the channel selectivity filter, producing increased Na + conductance membrane depolarization, signal for aldosterone production proliferation glomerulosa cells. report herein members four kindreds onset primary...
To determine the frequency of incident vertebral fractures (IVF) 12 months after glucocorticoid (GC) initiation in children with rheumatic diseases and to identify at higher risk.Children initiating GC were enrolled a prospective observational study. Annual spine radiographs evaluated using Genant semiquantitative method. Spine areal bone mineral density (aBMD) was measured every 6 months. Clinical features, including cumulative dose, back pain, disease physical activity, calcium vitamin D...
Vertebral fractures due to osteoporosis are a potential complication of childhood acute lymphoblastic leukemia (ALL). To date, the incidence vertebral during ALL treatment has not been reported.We prospectively evaluated 155 children with first 12 months therapy. Lateral thoracolumbar spine radiographs were obtained at baseline and months. bodies assessed for incident using Genant semiquantitative method, relevant clinical indices such as bone mineral density (BMD), back pain, presence...
Vertebral fractures are an important yet underrecognized manifestation of osteoporosis in children with chronic, glucocorticoid-treated illnesses. Our goal was to determine the incidence and clinical predictors vertebral 3 years following glucocorticoid initiation among pediatric patients rheumatic disorders. Incident were evaluated according Genant semiquantitative method on lateral radiographs at baseline then annually initiation. Extended Cox models used assess association between risk...
The purpose of this article was to determine the incidence and predictors vertebral fractures (VF) during 4 years after diagnosis in pediatric acute lymphoblastic leukemia (ALL).Children were enrolled within 30 days chemotherapy initiation, with incident VF assessed annually on lateral spine radiographs according Genant method. Extended Cox models used assess association between clinical predictors.A total 186 children ALL completed baseline evaluation (median age, 5.3 years; interquartile...
ABSTRACT Osteoporotic fractures are a significant cause of morbidity in acute lymphoblastic leukemia (ALL). Our objective was to determine the incidence and predictors recovery from osteoporosis pediatric ALL over 6 years following glucocorticoid initiation. Vertebral (VF) vertebral body reshaping were assessed on annual spine radiographs, low-trauma non-VF recorded at regular intervals bone mineral density (BMD) captured every months for 4 then annually. A total 186 children with enrolled...
Summary Allgrove syndrome (Isolated glucocorticoid deficiency, achalasia and alacrima) was found in eight members of an inbred French Canadian/North American Indian pedigree. The high degree consanguinity supports autosomal recessive mode inheritance for this disorder. Six patients presented with hypoglycaemia other evidence cortisol deficiency between 2·5 8 years age; however, two others became deficient after Initial testing showed normal responses to ACTH, that the Insufficiency may not...
Our objectives were to assess the magnitude of disparity in lumbar spine bone mineral density (LSBMD) Z-scores generated by different reference databases and evaluate whether relationship between LSBMD vertebral fractures (VF) varies choice database. Children with leukemia underwent cross-calibrated dual-energy x-ray absorptiometry, according Hologic Lunar databases. VF assessed Genant method on radiographs. Logistic regression was used association Z-scores. Net reclassification improvement...
Referrals of transgender and gender-diverse (trans) youth to medical clinics for gender-affirming care have increased. We described characteristics trans in Canada at first referral visit.Baseline clinical survey data (2017-2019) were collected Trans Youth CAN!, a 10-clinic prospective cohort n = 174 pubertal postpubertal <16 years with gender dysphoria, referred hormonal suppression or hormone therapy, 160 linked parent-participants. Measures assessed health, demographics, visit outcome.Of...
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and be difficult to diagnose. We undertook next generation sequencing in cohort of children young adults PAI unknown etiology from around the world identified heterozygous missense variant (rs6161, c.940G>A, p.Glu314Lys) CYP11A1 19 individuals 13 different families (allele frequency within undiagnosed our cohort, 0.102 vs 0.0026 Genome Aggregation Database; P < 0.0001)....
OBJECTIVE To determine whether administration of bacille Calmette-Guerin (BCG) vaccination to newly diagnosed IDDM patients can help preserve C-peptide secretion over the subsequent 18 months. RESEARCH DESIGN AND METHODS Twenty-six patients, all whom had been within previous year, basal levels &gt;0.06 nmol/1, and negative reactions Mantoux's test, were randomized pairwise as they presented given either 0.1 ml (100 μg) BCG vaccine or saline intradermally. Both investigators blinded...
Abstract Introduction Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present longitudinal perspective sleep abnormalities in nine-year-old Caucasian girl syndrome from age two to nine, detail response modafinil. Case presentation Our patient presented at years hypersomnia narcoleptic episodes cataplectic features....
Abstract Alström disease is a rare disorder; less than 20 cases have been reported. An 11‐year‐old girl described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be further, previously undescribed systemic manifestation of disease.
Abstract We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann‐Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually coarse facial changes, umbilical hernia, macroglossia. Renal sonography done after the macroglossia showed large kidneys in both. The placentas carefully examined both cases findings described as typical WBS only found one. clinical evolution these infants suggests that some manifestations may have their...
Hypothalamic-pituitary-thyroid axis changes in critical illness result nonthyroidal syndrome (NTIS) characterized by abnormal TSH and thyroid hormone levels. It is unclear whether NTIS adaptive or maladaptive. Some have suggested that adversely affects outcome, but there are limited data children.Our objective was to determine the natural history of children undergoing cardiac bypass surgery correlate these with outcome severity.Thyroid function measured 21 patients, aged 1-11 yr,...
Abstract Objective To examine the temporal and dose‐related effects of glucocorticoids (GCs) on body mass index (BMI) in children with rheumatic diseases. Methods Children initiating GCs for a disease (n = 130) were assessed every 3 months 18 months. BMI, weight, height Z score trajectories described according to GC starting dosage prednisone equivalents: high (≥1.0 mg/kg/day), low (<0.2 mg/kg/day maximum 7.5 mg/day), moderate (between low) dosage. The impact dosing, underlying diagnosis,...
Abstract Context Osteoporotic fractures are an important cause of morbidity in children with glucocorticoid-treated rheumatic disorders. Objective This work aims to evaluate the incidence and predictors osteoporotic potential for recovery over six years following glucocorticoid (GC) initiation Methods Children GC-treated disorders were evaluated through a prospective inception cohort study led by Canadian STeroid-induced Osteoporosis Pediatric Population (STOPP) Consortium. Clinical outcomes...
OBJECTIVE: Inactivating mutations of the GH-releasing hormone receptor (GHRHR) gene cause familial isolated GH deficiency (IGHD) type IB. The response to physical exercise (PE) in patients lacking GHRHR has never been studied. We hypothesized that subjects functional may be a model study PE. DESIGN: have analyzed peripheral genomic DNA family with two sibs affected by IGHD IB for GHRHR, studied patients' different secretagogues and PE, examined morphology their pituitary gland magnetic...
To assess the effect of vertebral fractures (VF) and glucocorticoid (GC) exposure on height deficits in children during treatment acute lymphoblastic leukemia (ALL). Children with ALL treated without cranial radiation therapy (n = 160; median age, 5.1 years; 58.1% male) were followed prospectively for 6 years. Spinal deformity index (SDI) was used to quantify VF status. Baseline z score ± SD 0.3 1.2. It fell by 0.5 0.4 first months boys 12 girls (P < 0.01 both) then subsequently recovered....
<b><i>Background:</i></b> Isolated central congenital hypothyroidism (ICCH) is rare but important. Most ICCH patients are diagnosed later, which results in severe growth failure and intellectual disability. <b><i>Objective:</i></b> We describe a boy with due to large homozygous <i>TSHβ </i>gene deletion. <b><i>Results:</i></b> A 51-day-old male Turkish infant, whose parents were first cousins, was admitted...