ROHHAD syndrome and evolution of sleep disordered breathing.

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHAD, the evolution of sleep disordered breathing (SDB) is not well studied. The aim of the study was to assess early manifestations of SDB and their evolution in ROHHAD syndrome.

Management of urinary tract infections in children in an era of increasing antimicrobial resistance.

Introduction: Accurate diagnosis and appropriate use of antimicrobials for treatment and prevention of urinary tract infections (UTIs) is vital in an era of increasing antibiotic resistance.

Areas Covered: The article reviews indications for and interpretation of urinalysis and urine culture results for diagnosis of UTI, choice of antibiotics for empiric and definitive UTI therapy, the rationale behind and indications for radiographic investigations, and prevention of UTIs including the complex decision as to whether antibiotic prophylaxis will benefit a child. Expert commentary: Over-diagnosis of UTI is a prevalent problem due to the lack of specificity of both urinalysis and urine culture.

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.

Background: SIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of congenital sideroblastic anemia associated with B-cell immunodeficiency, periodic fevers, and developmental delay caused by mutations in the CCA-adding enzyme TRNT1, but the precise molecular pathophysiology is not known.

Results: We show that the disease causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. Analysis of cellular respiration and oxidative phosphorylation (OXPHOS) complexes demonstrates that both basal and maximal respiration rates are decreased in patient cells, which may be attributed to an observed decrease in the abundance of select proteins of the OXPHOS complexes.

Heart Disease, Hypertension, Gestational Diabetes Mellitus, and Preeclampsia/Eclampsia in Mothers With Juvenile Arthritis: A Nested Case-Control Study.

Objective: To determine whether women with a history of juvenile arthritis are at higher risk for heart disease and hypertension and for developing adverse maternal outcomes: gestational diabetes mellitus, maternal hypertension, and preeclampsia/eclampsia.

Methods: We designed a nested case-control study from a cohort of first-time mothers with prior physician billing codes suggesting juvenile arthritis, and a matched comparison group without juvenile arthritis. For the nested case-control design, we selected 3 controls for each case for the outcomes of heart disease (n = 403), prepregnancy hypertension (n = 66), gestational diabetes mellitus (n = 285), maternal hypertension (n = 561), and preeclampsia/eclampsia (n = 236).

Histologic analysis of eosinophils and mast cells of the gastrointestinal tract in healthy Canadian children.

Many gastrointestinal (GI) disorders, including GI eosinophilia and inflammatory bowel disease, can be characterized by increased mucosal eosinophils (EOs) or mast cells (MCs). Normal mucosal cellular counts along the GI tract in healthy children have not been established for a Canadian pediatric population. To establish a benchmark reference, we quantified EO and MC from 356 mucosal biopsies of the GI tract obtained during upper and lower endoscopic biopsies of 38 pediatric patients in eastern Ontario.

Congenital mesoblastic nephroma: a study of 19 cases using immunohistochemistry and ETV6-NTRK3 fusion gene rearrangement.

Mesoblastic nephroma (MN) is the most common renal tumour in the first 3 months of life and accounts for 3-5% of all paediatric renal neoplasms. To further understand the morphological variants of MN, we identified 19 cases of MN (five classic, eight cellular and six mixed) and examined each case for markers known to be important in urogenital embryological development (PAX8, WT1 and RCC), stem cell associated markers (Oct 4, CD34 and c-kit), muscle/myofibroblastic markers (muscle specific actin, calponin and h-caldesmon), aberrant transcription factors, cell cycle regulation and other oncogenic proteins (p16, cyclin D1 and beta-catenin). Fluorescence in situ hybridisation (FISH) testing for ETV6-NTRK3 gene fusion/rearrangement revealed further differentiation between the subtypes with ETV6-NTRK3 gene fusion detected in 0/5 of the classic MN, 8/8 of the cellular MN and 5/6 of the mixed MN cohorts, respectively.

The impact of underlying disease on fracture risk and bone mineral density in children with rheumatic disorders: A review of current literature.

Childhood rheumatic diseases are associated with negative impacts on the skeleton, related to both the underlying illness and complications of therapy. The effects of medications like corticosteroids are well recognized, leading to reductions in bone mineral density and bone strength and concomitant increases in bone fragility and fracture risk. The impact of factors directly attributable to the underlying disease is not as well recognized.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard.

Maternal placental syndromes among women living with HIV in Ontario: a population-based study.

Background: Maternal placental syndromes are associated with adverse fetal outcomes and maternal cardiovascular disease. However, whether HIV infection increases the risk of maternal placental syndromes is unknown. Our objective was to compare the risk of maternal placental syndromes between women living with and without HIV infection in Ontario.

Radiograph-Negative Lateral Ankle Injuries in Children: Occult Growth Plate Fracture or Sprain?

Importance: Lateral ankle injuries without radiographic evidence of a fracture are a common pediatric injury. These children are often presumed to have a Salter-Harris type I fracture of the distal fibula (SH1DF) and managed with immobilization and orthopedic follow-up. However, previous small studies suggest that these injuries may represent ankle sprains rather than growth plate fractures.

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

Mitochondrial fission and fusion are dynamic processes vital to mitochondrial quality control and the maintenance of cellular respiration. In dividing mitochondria, membrane scission is accomplished by a dynamin-related GTPase, DNM1L, that oligomerizes at the site of fission and constricts in a GTP-dependent manner. There is only a single previous report of DNM1L-related clinical disease: a female neonate with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF; OMIM #614388), a lethal disorder characterized by cerebral dysgenesis, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes.

The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension.

Cost Consequence Analysis of Implementing the Low Risk Ankle Rule in Emergency Departments.

Study Objective: Implementation of the Low Risk Ankle Rule can safely reduce radiographs for children with acute ankle injuries. The main objective of this study is to examine the costs and consequences of implementing the rule.

Methods: For children aged 3 to 16 years and with an acute ankle injury, we collected data on health care provider visits, imaging, and treatment at the index emergency department (ED) visit and days 7 and 28 post-ED discharge.

Respiratory syncytial virus infections in pediatric transplant recipients: A Canadian Paediatric Surveillance Program study.

The incidence and spectrum of severity of RSV infections in SOT or HSCT recipients is not known. From September 2010 through August 2013, pediatricians were surveyed monthly by the CPSP for SOT or HSCT recipients with RSV infection within two yr post-transplant. There were 24 completed case report forms that fit the inclusion criteria (10 HSCT and 14 SOT recipients).

Postpartum Maternal and Neonatal Hospitalizations Among Women with HIV: A Population-Based Study.

Postpartum maternal and neonatal readmissions in the period shortly following birth are indicators of serious morbidity. We compared the risk of postpartum maternal and neonatal hospitalizations in women living with and without HIV in Ontario, Canada. We conducted a population-based study of pregnancies in Ontario between April 1, 2002 and March 31, 2011 using Ontario's administrative health care databases.

Adequacy of prenatal care among women living with human immunodeficiency virus: a population-based study.

Background: Prenatal care reduces perinatal morbidity. However, there are no population-based studies examining the adequacy of prenatal care among women living with HIV. Accordingly, we compared the prevalence of adequate prenatal care among women living with and without HIV infection in Ontario, Canada.

Adverse Neonatal Outcomes Among Women Living With HIV: A Population-Based Study.

Background: There have been few population-based studies describing the risk of adverse neonatal outcomes among women living with HIV in Canada. Accordingly, we compared the risk of preterm birth (PTB), low birth weight (LBW) and small for gestational age births among Ontario women aged 18 to 49 years living with and without HIV infection.

Methods: We conducted a population-based study using Ontario health administrative data.

The risk and nature of flares in juvenile idiopathic arthritis: results from the ReACCh-Out cohort.

Objective: To describe probabilities and characteristics of disease flares in children with juvenile idiopathic arthritis (JIA) and to identify clinical features associated with an increased risk of flare.

Methods: We studied children in the Research in Arthritis in Canadian Children emphasizing Outcomes (ReACCh-Out) prospective inception cohort. A flare was defined as a recurrence of disease manifestations after attaining inactive disease and was called significant if it required intensification of treatment.

Assessment of musculoskeletal toxicity 5 years after therapy with levofloxacin.

Background: Safety concerns for fluoroquinolones exist from animal studies demonstrating cartilage injury in weight-bearing joints, dependent on dose and duration of therapy. For children treated with levofloxacin or comparator in randomized, prospective, comparative studies for acute otitis media and community-acquired pneumonia, this 5-year follow-up safety study was designed to assess the presence/absence of cartilage injury.

Methods: Children enrolled in treatment studies were also enrolled in a 1-year follow-up safety study, which; focused on musculoskeletal adverse events (MSAE).

The outcomes of juvenile idiopathic arthritis in children managed with contemporary treatments: results from the ReACCh-Out cohort.

Objective: To describe clinical outcomes of juvenile idiopathic arthritis (JIA) in a prospective inception cohort of children managed with contemporary treatments.

Methods: Children newly diagnosed with JIA at 16 Canadian paediatric rheumatology centres from 2005 to 2010 were included. Kaplan-Meier survival curves for each JIA category were used to estimate probability of ever attaining an active joint count of 0, inactive disease (no active joints, no extraarticular manifestations and a physician global assessment of disease activity <10 mm), disease remission (inactive disease >12 months after discontinuing treatment) and of receiving specific treatments.

Implementation of multidimensional knowledge translation strategies to improve procedural pain in hospitalized children.

Background: Despite extensive research, institutional policies, and practice guidelines, procedural pain remains undertreated in hospitalized children. Knowledge translation (KT) strategies have been employed to bridge the research to practice gap with varying success. The most effective single or combination of KT strategies has not been found.

Air pollution and emergency department visits for otitis media: a case-crossover study in Edmonton, Canada.

Background: Otitis media (OM) is one of the most common early childhood infections, resulting in an enormous economic burden to the health care system through unscheduled doctor visits and antibiotic prescriptions.

Objectives: The objective of this study was to investigate the potential association between ambient air pollution exposure and emergency department (ED) visits for OM.

Materials And Methods: Ten years of ED data were obtained from Edmonton, Alberta, Canada, and linked to levels of air pollution: carbon monoxide (CO), nitrogen dioxide (NO2), ozone (O3), sulfur dioxide, and particulate matter (PM) of median aerometric diameter < or = 10 and 2.

Hypothermia therapy after pediatric cardiac arrest.

Background: Hypothermia therapy improves mortality and functional outcome after cardiac arrest and birth asphyxia in adults and newborns. The effect of hypothermia therapy in infants and children with cardiac arrest is unknown.

Methods And Results: A 2-year, retrospective, 5-center study was conducted, and 222 patients with cardiac arrest were identified.