Age and Sex Differences in the Genetics of Cardiomyopathy.

Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.

analysis of growth rate evolution during molecular layer deposition of ultra-thin polyurea films using aliphatic and aromatic precursors.

Organic thin films formed by molecular layer deposition (MLD) are important for next-generation electronics, energy storage, photoresists, protective barriers and other applications. This study uses ellipsometry and quartz crystal microbalance to explore growth initiation and growth rate evolution during MLD of polyurea using aromatic -phenylene diisocyanate (PDIC) or aliphatic 1,6-hexamethylene diisocyanate (HDIC) combined with ethylenediamine (ED) or 1,6-hexanediamine (HD) co-reactants. During the first 10-20 cycles of growth, we show the growth rate can increase and/or decrease substantially depending on the substrate as well as the flexibility, length, and structure of the isocyanate and amine reactants used.

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

Return of genetic and genomic research findings: experience of a pediatric biorepository.

Background: Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.

Methods: Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor.

Impact of salivary enzyme activity on the oral perception of starch containing foods.

Unlabelled: It has long been held that product developers should not rely solely on instrumental measures of texture. This study examined the widely accepted effects of salivary α amylase on mouth thinning during oral processing. To understand this phenomenon, 13 descriptive panelists were trained to manipulate starch thickened semisolid foods and note when changes in the perceived thickness occurred.

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Purpose: The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD.

Methods: Whole-exome sequencing was performed in 81 unrelated probands with AVSD to identify potentially causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD.

Retroesophageal brachiocephalic artery assessed by magnetic resonance imaging: a case report and literature review.

A right aortic arch with a retroesophageal brachiocephalic artery is a very rare type of vascular ring. We present a case report along with a review of published cases to date. Twelve publications from 1968-2014 describe a retroesophageal brachiocephalic artery in a total of 13 patients.

Impact of prenatal risk factors on congenital heart disease in the current era.

Background: The healthcare burden related to congenital heart disease (CHD) is increasing with improving survival. We assessed changing trends in prenatal risk factors for CHD in the current era in a Canadian cohort.

Methods And Results: CHD patients <18 years old (n=2339) and controls without structural heart disease (n=199) were prospectively enrolled in an Ontario province-wide biobank registry from 2008-2011.

Factors influencing participation in a population-based biorepository for childhood heart disease.

Background: Consenting minors for genetics research and biobanking involves ethical and social challenges. We examined factors influencing participation rates in a population-based biorepository for childhood heart disease.

Methods: Individuals were prospectively enrolled across 7 centers in Ontario by using a standardized consent form.

Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair.

Background: Hypoxia-inducible factor (HIF1A) regulates the myocardial response to hypoxia and hemodynamic load. We investigated the association of HIF1A variants with right-ventricular (RV) remodeling after tetralogy of Fallot (TOF) repair.

Methods: Children with TOF were genotyped for three single-nucleotide polymorphisms in HIF1A.

Rhabdomyoma of the interventricular septum presenting as a Brugada phenocopy.

Brugada syndrome is a channelopathy characterised electrocardiographically by distinctive coved ST-segment elevation in the right precordial leads and is associated with a predisposition for sudden death secondary to ventricular arrhythmias in otherwise healthy patients. Previously known as Brugada-like patterns, Brugada phenocopies include agents and conditions that mimic true Brugada syndrome, presenting with an acquired Brugada Type-1 ECG pattern. We describe the first reported case of a 17-month-old female with an asymptomatic rhabdomyoma of the interventricular septum that presented as a Brugada phenocopy.

Repeated systematic surveillance of Kawasaki disease in Ontario from 1995 to 2006.

Background: Rising incidences of Kawasaki disease (KD) have been reported worldwide. Reported herein are the results of 4 triennial KD surveillances conducted in Ontario.

Methods: Between 1995 and 2006 all hospitals in Ontario were asked on 4 occasions to identify all patients with discharge diagnoses of KD and report incident cases.

A post-myectomy heart: 20 years later.

We present the case of a 20-year old male that underwent a surgical ventricular septal myectomy at 8 months of age for symptomatic and drug-refractory obstructive hypertrophic cardiomyopathy (HCM). Though he has remained asymptomatic since the operation, he now demonstrates findings of cardiac arrhythmia and left ventricular dysfunction. His case is of particular interest as it represents a detailed and lengthy follow-up from early childhood to adulthood.

Effect of activity restriction owing to heart disease on obesity.

Objective: To determine whether exercise intolerance and recommended activity restrictions are associated with development of overweight and obesity in children with congenital heart disease.

Design: Retrospective review.

Setting: Pediatric cardiology practice at a teaching hospital.

Metallic taste and retronasal smell.

A series of experiments investigated the nature of metallic taste reports and whether they can be attributed to the development of a retronasal smell. Two studies showed that the metallic sensation reports following oral stimulation with solutions of FeSO4 were reduced to baseline when the nose was occluded. No such reduction was seen for CuSO4 or ZnSO4, which were more bitter and astringent, respectively, and less metallic.