Cardiac Magnetic Resonance Imaging in Pediatric Turner Syndrome.

Objective: To compare the detection of cardiac lesions with the use of cardiac magnetic resonance imaging (CMR) and conventional echocardiography in children with Turner syndrome.

Study Design: Twenty-four girls with Turner syndrome, 8-18 years of age, were recruited through the Pediatric Endocrinology Program. Participants underwent CMR and echocardiography within a 2-year period, and discrepancies between the results of each modality were identified.

Five endometrial cancer risk loci identified through genome-wide association analysis.

We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we describe a 60-year-old male affected by ataxia due to biallelic mutations in the mitochondrial polymerase gamma (POLG) gene in which hyperintensities of the middle cerebellar peduncles (MCP) were found. The initial suspicion of FXTAS was however ruled out by a normal CGG expansion size in the FMR1 gene.

Evaluation of single right atrial volume and function with magnetic resonance imaging in children with hypoplastic left heart.

Background: Standardized methods to evaluate atrial properties in single ventricles are lacking.

Objective: To determine the feasibility of quantifying right atrial volumes and function in hypoplastic left heart using MRI.

Materials And Methods: We studied 15 infants with hypoplastic left heart prior to Glenn surgery (mean age 4.

Impaired Left Ventricular Reserve in Childhood Cancer Survivors Treated With Anthracycline Therapy.

Background: Childhood cancer survivors show evidence of diffuse myocardial fibrosis that is related to exercise capacity. The mechanism of reduced exercise tolerance in anthracycline cardiotoxicity remains unclear. We explored the determinants of exercise intolerance by evaluating left ventricular (LV) distensibility and functional reserve.

Use of a remote clinical decision support service for a multicenter trial to implement prediction rules for children with minor blunt head trauma.

Objective: To evaluate the architecture, integration requirements, and execution characteristics of a remote clinical decision support (CDS) service used in a multicenter clinical trial. The trial tested the efficacy of implementing brain injury prediction rules for children with minor blunt head trauma.

Materials And Methods: We integrated the Epic(®) electronic health record (EHR) with the Enterprise Clinical Rules Service (ECRS), a web-based CDS service, at two emergency departments.

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothesised that some lower-risk genetic variants might also predispose to both CRC and EC. Using CRC and EC genome-wide association series, totalling 13,265 cancer cases and 40,245 controls, we found that the protective allele [G] at one previously-identified CRC polymorphism, rs2736100 near TERT, was associated with EC risk (odds ratio (OR) = 1.

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.

Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol (E2) concentrations. We analyzed 2937 single nucleotide polymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome wide-significant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10(-11)).

Development, Evaluation and Implementation of Chief Complaint Groupings to Activate Data Collection: A Multi-Center Study of Clinical Decision Support for Children with Head Trauma.

Background: Overuse of cranial computed tomography scans in children with blunt head trauma unnecessarily exposes them to radiation. The Pediatric Emergency Care Applied Research Network (PECARN) blunt head trauma prediction rules identify children who do not require a computed tomography scan. Electronic health record (EHR) based clinical decision support (CDS) may effectively implement these rules but must only be provided for appropriate patients in order to minimize excessive alerts.

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.

Excessive exposure to estrogen is a well-established risk factor for endometrial cancer (EC), particularly for cancers of endometrioid histology. The physiological function of estrogen is primarily mediated by estrogen receptor alpha, encoded by ESR1. Consequently, several studies have investigated whether variation at the ESR1 locus is associated with risk of EC, with conflicting results.

Characterizing workflow for pediatric asthma patients in emergency departments using electronic health records.

Objective: The purpose of this study was to describe a workflow analysis approach and apply it in emergency departments (EDs) using data extracted from the electronic health record (EHR) system.

Materials And Methods: We used data that were obtained during 2013 from the ED of a children's hospital and its four satellite EDs. Workflow-related data were extracted for all patient visits with either a primary or secondary diagnosis on discharge of asthma (ICD-9 code=493).

The gynecological surveillance of women with Lynch syndrome in Sweden.

Objective: Women with Lynch syndrome (LS) have up to a 60% lifetime risk of endometrial cancer (EC) and up to a 24% risk of ovarian cancer (OC). Gynecological surveillance is recommended, but the benefit and how it should be performed remain unclear. The purpose of this study was to assess diagnostic modalities for gynecological screening of LS patients in Sweden and clinical outcome.

A trigger tool to detect harm in pediatric inpatient settings.

Objectives: An efficient and reliable process for measuring harm due to medical care is needed to advance pediatric patient safety. Several pediatric studies have assessed the use of trigger tools in varying inpatient environments. Using the Institute for Healthcare Improvement's adult-focused Global Trigger Tool as a model, we developed and pilot tested a trigger tool that would identify the most common causes of harm in pediatric inpatient environments.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, comparative genome hybridization and homozygosity mapping.

Childhood presentation of interrupted aortic arch with persistent carotid ducts.

Interrupted aortic arch is a rare condition with typical presentation within the first few weeks of life, as the circulation is dependent upon patency of the arterial duct. Most cases are associated with intracardiac anomalies, the most common being a ventricular septal defect with some degree of hypoplasia and/or obstruction of the left ventricular outflow tract. Presentation beyond infancy is uncommon, and suggests the presence of well-developed collateral circulation.

Markers of automaticity in sleep-associated consolidation of novel words.

Two experiments investigated effects of sleep on consolidation and integration of novel form-meaning mappings using size congruity and semantic distance paradigms. Both paradigms have been used in previous studies to measure automatic access to word meanings. When participants compare semantic or physical font size of written word-pairs (e.

Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients.

Cowden syndrome (CS) is an autosomal dominant disorder characterized by multiple hamartomas in the breast, thyroid and endometrium, with a prevalence of 1 per 250,000. Females with CS have a 21-28% lifetime risk of developing uterine cancer. Germline mutations in the phosphatase and tensin homolog () gene, a tumor suppressor gene, are responsible for 30-80% of CS cases.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.

Evaluation and management of hypersensitivity reactions to chemotherapy agents.

Hypersensitivity reactions to chemotherapy drugs pose significant difficulties in management, especially when no suitable alternative is available or acceptable and delay in continuation of treatment may be life-threatening. Such reactions may be IgE- or non-IgE-mediated and have varied manifestations. Timely recognition and treatment of life-threatening hypersensitivity reactions are essential.

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT-CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls.

Recalcitrant hypocalcaemia in autoimmune enteropathy.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome is a monogenic disorder associated with autoimmune destruction of both endocrine and nonendocrine tissues. The classic triad includes candidiasis, hypoparathyroidism, and Addison disease. Up to 25% of patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome also have gastrointestinal manifestations, which can have an impact on the management of other aspects of the disease.

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects on HNF1B gene expression. We previously found single-nucleotide polymorphisms (SNPs) at the HNF1B locus to be associated with endometrial cancer, and now report extensive fine-mapping and in silico and laboratory analyses of this locus.

Rationale and design of the Canadian Outcomes Registry Late After Tetralogy of Fallot Repair: the CORRELATE study.

Background: Chronic hemodynamically relevant pulmonary regurgitation (PR) resulting in important right ventricular dilation and ventricular dysfunction is commonly seen after tetralogy of Fallot (TOF) repair. Late adverse clinical outcomes, including exercise intolerance, arrhythmias, heart failure and/or death accelerate in the third decade of life and are cause for considerable concern. Timing of pulmonary valve replacement (PVR) to address chronic PR is controversial, particularly in asymptomatic individuals, and effect of PVR on clinical measures has not been determined.