Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Background: Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently "asymptomatic" with limited studies of their clinical characteristics and long-term health vulnerabilities. Multimodal neuroimaging studies and executive function testing have shown that asymptomatic females exhibit limitations when stressed to perform at higher cognitive load and had reduced activation of the prefrontal cortex.

Native T1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) is an X-linked, inherited disorder causing dilated cardiomyopathy with variable onset and progression. Currently we lack objective markers of the effect of therapies targeted towards preventing progression of subclinical cardiac disease. Thus, our aim was to compare the ability of native T1 and extracellular volume (ECV) measurements to differentiate risk of myocardial disease in DMD and controls.

Initial report of the osteogenesis imperfecta adult natural history initiative.

Background: A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.

Methods: The Osteogenesis Imperfecta Foundation established the Adult Natural History Initiative (ANHI) in 2010 to give voice to the health concerns of the adult OI community and to begin to address existing knowledge gaps for this condition. Using a web-based platform, 959 adults with self-reported OI, representing a wide range of self-reported disease severity, reported symptoms and health conditions, estimated the impact of these concerns on present and future health-related quality of life (QoL) and completed a Patient-Reported Outcomes Measurement Information System (PROMIS®) survey of health issues.

Association between Inflammation and Biological Variation in Hemoglobin A1c in U.S. Nondiabetic Adults.

Context: Inflammation is associated with higher glycated hemoglobin (HbA1c) levels. Whether the relationship is independent of blood glucose concentration remains unclear.

Objective: The hemoglobin glycation index (HGI) was used to test the hypothesis that interindividual variation in HbA1c is associated with inflammation.

Propranolol vs prednisolone for symptomatic proliferating infantile hemangiomas: a randomized clinical trial.

Importance: While propranolol is touted as superior to prednisolone for treating infantile hemangiomas (IH), a randomized clinical trial (RCT) comparing the outcome and tolerability of these medications for symptomatic, proliferating IH has not been reported.

Objectives: To determine if oral propranolol is more efficacious and better tolerated than prednisolone in treating symptomatic, proliferating IH and to determine the feasibility of conducting a multi-institutional, RCT comparing efficacy and tolerability of both medications.

Design, Setting, And Participants: Phase 2, investigator-blinded, multi-institutional RCT conducted in 3 academic vascular anomalies clinics on 19 of 44 eligible infants aged between 2 weeks and 6 months.

Intranasal epidermal growth factor treatment rescues neonatal brain injury.

There are no clinically relevant treatments available that improve function in the growing population of very preterm infants (less than 32 weeks' gestation) with neonatal brain injury. Diffuse white matter injury (DWMI) is a common finding in these children and results in chronic neurodevelopmental impairments. As shown recently, failure in oligodendrocyte progenitor cell maturation contributes to DWMI.

The use of near-infrared spectroscopy during an extubation readiness trial as a predictor of extubation outcome.

Objectives: To determine whether the measurement of cerebral and somatic regional oxygen saturation during an extubation readiness trial predicts extubation failure in postoperative cardiac patients.

Design: Prospective observational study.

Setting: Tertiary care center cardiac ICU.

Analysis of pediatric autologous PBSC apheresis and transplant: age is a major factor affecting post-transplant toxicity.

Background: High-dose chemotherapy followed by autologous hematopoietic cell transplantation (HCT) is used in many therapeutic protocols for pediatric intra- and extra-cranial solid tumors. HCT can be curative, but is associated with significant toxicity.

Procedure: Between January 2001 and June 2009, 92 solid tumor patients (age 6 months to 27 years) underwent 94 autologous apheresis procedures at Children's National Medical Center.

Does prearrival communication from a poison center to an emergency department decrease time to activated charcoal for pediatric poisoning?

Objective: A poison center plays an important role in directing appropriate care, which is critical in reducing morbidity due to poisoning. Activated charcoal (AC) is one intervention for some poisonings. This study examined whether children with a poisoning who were preannounced by a poison center received AC earlier than patients without a referral.

Inverse zonation of hepatocyte transduction with AAV vectors between mice and non-human primates.

Gene transfer vectors based on adeno-associated virus 8 (AAV8) are highly efficient in liver transduction and can be easily administered by intravenous injection. In mice, AAV8 transduces predominantly hepatocytes near central veins and yields lower transduction levels in hepatocytes in periportal regions. This transduction bias has important implications for gene therapy that aims to correct metabolic liver enzymes because metabolic zonation along the porto-central axis requires the expression of therapeutic proteins within the zone where they are normally localized.

The effect of dexmedetomidine during myringotomy and pressure-equalizing tube placement in children.

Background: Bilateral myringotomy (BMT) is a commonly performed otolaryngologic procedure in children.

Objectives: To examine the effects of intranasal dexmedetomidine, an α(2)-adrenoceptor agonist, on time-averaged pain scores, pain control, need for rescue analgesia, and agitation scores in children undergoing BMT.

Methods: We designed a trial to enroll 160 children randomized to one of four groups: two study groups, dexmedetomidine (1 or 2 μg·kg(-1)), or two control groups representing our institutional standards of practice (intranasal fentanyl-2 μg·kg(-1) or acetaminophen as needed postoperatively).

High-dose dexmedetomidine increases the opioid-free interval and decreases opioid requirement after tonsillectomy in children.

Purpose: Dexmedetomidine, a selective α(2) adrenoreceptor agonist, has analgesic and sedative properties, minimal impact on respiratory parameters, and reportedly decreases analgesic requirements after surgery. Given its pharmacodynamic profile, dexmedetomidine might have a role for postoperative pain control in children undergoing tonsillectomy. In this study, we hypothesized that dexmedetomidine would delay and decrease opioid requirements after tonsillectomy.

Hemoglobin glycation index: a robust measure of hemoglobin A1c bias in pediatric type 1 diabetes patients.

Background: The hemoglobin glycation index (HGI) assesses biological variation in A1c after accounting for the effect of mean blood glucose (MBG). Previous studies minimized analytical variation that could mask biological variation and showed that HGI was consistent within individuals over time and positively associated with risk for microvascular complications. We tested the hypothesis that biological variation in A1c can be assessed by HGI calculated using routine MBG and A1c data obtained from a typical diabetes clinic.

A Mastery Rubric: guiding curriculum design, admissions and development of course objectives.

This article describes a 'Mastery Rubric' (MR) used to design both the curriculum and the assessments in a new two-year certificate programme intended to train physicians in clinical research skills. The MR for clinical research skills is built around a set of core research skills: critical review of literature; articulation of research objective; development of research design; development of analysis plan; implementation of the study; implementation of the analysis plan and presentation of results. Four distinct levels of performance are described for each skill: beginning, novice, competent and proficient.

Labile A1C is inversely correlated with the hemoglobin glycation index in children with type 1 diabetes.

Objective: We hypothesized that labile A1C (LA1C) is directly correlated with stable A1C (SA1C) and between-patient differences in SA1C, which are independent of mean blood glucose (MBG).

Research Design And Methods: We measured SA1C, LA1C, MBG, and a single clinic capillary glucose (CCG) from 152 pediatric patients with type 1 diabetes. Patients were grouped as high, moderate, or low glycators by hemoglobin glycation index (HGI).

Systematic evaluation of AAV vectors for liver directed gene transfer in murine models.

Vectors based on adeno-associated viruses (AAVs) are being evaluated for use in liver-directed gene therapy. Candidates have been preselected on the basis of capsid structure that plays an important role in determining performance profiles. We describe a comprehensive and statistically powered set of mouse studies designed to compare the performance of vectors based on seven novel AAV capsids.

Assessment of relationship between nutrition and growth in pediatric hemodialysis patients.

Objective: Nutrition and growth are important outcome indicators in pediatric (Ped) hemodialysis (HD) patients. We hypothesized that there is a discrepancy among traditional measures of nutrition, and that adequate nutrition may not reliably predict growth.

Methods: We assessed longitudinal nutrition and growth parameters in 14 Ped HD patients over 1 year.

Does emergency medical services transport for pediatric ingestion decrease time to activated charcoal?

Objective: Activated charcoal (AC) is a potentially beneficial intervention for some toxic ingestions. When administered within one hour, it can reduce absorption of toxins by up to 75%. This study evaluated whether pediatric emergency department (ED) patients arriving by ambulance receive AC more quickly than patients arriving by alternative modes of transport.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential for ureagenesis. We report on a cross-sectional investigation to determine clinical and laboratory characteristics of patients with UCD in the United States. The data used for the analysis was collected at the time of enrollment of individuals with inherited UCD into a longitudinal observation study.

Lipoprotein profile changes in children after renal transplantation in the modern immunosuppression era.

There are little data on prevalence of dyslipidemia in pediatric kidney TX recipients in the modern IS era. LP profiles of 38 TX recipients receiving triple IS with MMF, prednisone, and tacrolimus were compared with those of 11 children on HD using mixed model multiple linear regression analysis of repeated measures after adjusting for age, sex, ethnicity, duration of ESRD, and BMI. TC and LDL levels were significantly higher in TX compared with HD, whereas there was no difference in the HDL, VLDL, and TG levels.

Morbidities associated with bullying behaviors in adolescents. School based study of American adolescents.

Unlabelled: To assess the prevalence of bullying behaviors and morbidities, including overweight/obesity and frequent physical and emotional symptoms, and the associations between such morbidities and frequent involvement in bullying behaviors among US adolescents in grades 6 through 10.

Design, Setting, And Participants: This study was based on an analysis of US data from the 1998 World Health Organization Health Behavior in School-aged Children survey. The survey provides nationally representative, cross-sectional survey information on 15,686 US students in grades 6 through 10.