Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics.

Objectives: We aimed to classify genetic variants in RYR1 and CACNA1S associated with malignant hyperthermia using biobank genotyping data in patients exposed to triggering anesthetics without malignant hyperthermia phenotype.

Methods: We identified individuals who underwent surgery and were exposed to triggering anesthetics without malignant hyperthermia phenotype and who had RYR1 or CACNA1S genotyping data available in our biobank. We classified all variants in the cohort using a Bayesian framework of the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists guidelines for variant classification and updated the posterior probabilities from this model with the new information from our biobank cohort.

Evaluation of the total hydrodynamic energy loss using 4D flow MRI in a case with Fontan failure.

Fontan Failure (FF) is a common problem for single-ventricle patients as they reach adulthood. Although several mechanisms may cause FF, an optimized blood flow stream through the surgical conduits is essential to avoid excessive energy loss (EL). Recent clinical studies showed EL is related to the quality of life, exercise capacity, and hepatic function since the single-ventricle feeds pulmonary and systemic circulation serially.

Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.

Motivation: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.

Switching the Left and the Right Hearts: A Novel Bi-ventricle Mechanical Support Strategy with Spared Native Single-Ventricle.

End-stage Fontan patients with single-ventricle (SV) circulation are often bridged-to-heart transplantation via mechanical circulatory support (MCS). Donor shortage and complexity of the SV physiology demand innovative MCS. In this paper, an out-of-the-box circulation concept, in which the left and right ventricles are switched with each other is introduced as a novel bi-ventricle MCS configuration for the "failing" Fontan patients.

[Study Of Musculoskeletal Disorders Among The Secretaries Of The Yopougon University Hospital Center - Ivory Coast].

Introduction: Musculoskeletal disorders are the most common occupational disease in the world. They constitute a major health problem.

Methods: A cross-sectional study was carried out over a period of three months involving the secretaries of the Yopougon University Hospital.

Association between nitric oxide synthase 3 genetic variant and acute kidney injury following pediatric cardiac surgery.

Background: Acute kidney injury (AKI) complicates 30% to 50% of cardiac surgeries in pediatric patients. Genetic variants that affect renal blood flow and inflammation have been associated with AKI after cardiac surgery in diverse populations of adults but have not been studied in children. The objective of this study is to test the hypothesis that common candidate genetic variants are associated with AKI following pediatric cardiac surgery.

[Study Of Musculoskeletal Disorders Among The Secretaries Of The Yopougon University Hospital Center - Ivory Coast].

Introduction: Musculoskeletal disorders are the most common occupational disease in the world. They constitute a major health problem.

Methods: A cross-sectional study was carried out over a period of three months involving the secretaries of the Yopougon University Hospital.

Genome-Wide Approach to Measure Variant-Based Heritability of Drug Outcome Phenotypes.

Pharmacogenomic studies have successfully identified variants-typically with large effect sizes in drug target and metabolism enzymes-that predict drug outcome phenotypes. However, these variants may account for a limited proportion of phenotype variability attributable to the genome. Using genome-wide common variation, we measured the narrow-sense heritability ( ) of seven pharmacodynamic and five pharmacokinetic phenotypes across three cardiovascular drugs, two antibiotics, and three immunosuppressants.

Evidence for Pharmacogenomic Effects on Risperidone Outcomes in Pediatrics.

Objective: To determine the association between genetic variants reported to affect risperidone and adverse events (AEs) in children and adolescents.

Methods: Individuals aged 18 years or younger with ≥4 weeks of risperidone exposure in a deidentified DNA biobank were included. The primary outcome was AE frequency as a function of genotype.

Characterizing Pharmacogenetic Testing Among Children's Hospitals.

Although pharmacogenetic testing is becoming increasingly common across medical subspecialties, a broad range of utilization and implementation exists across pediatric centers. Large pediatric institutions that routinely use pharmacogenetics in their patient care have published their practices and experiences; however, minimal data exist regarding the full spectrum of pharmacogenetic implementation among children's hospitals. The primary objective of this nationwide survey was to characterize the availability, concerns, and barriers to pharmacogenetic testing in children's hospitals in the Children's Hospital Association.

Pharmacogenetics to Predict Adverse Events Associated With Antidepressants.

Objectives: To determine the association between cytochrome P450 2C19 (CYP2C19) metabolizer status and risk for escitalopram and citalopram, collectively termed (es)citalopram, and sertraline adverse events (AEs) in children.

Methods: In this retrospective cohort study, we used deidentified electronic health records linked to DNA. The cohort included children ≤18 years with ≥2 days of (es)citalopram or ≥7 days of sertraline exposure.

Acute Kidney Injury During Treatment with Intravenous Acyclovir for Suspected or Confirmed Neonatal Herpes Simplex Virus Infection.

Objective: To describe the epidemiology of and risk factors associated with acute kidney injury (AKI) during acyclovir treatment in neonates and infants.

Study Design: We conducted a multicenter (n = 4), retrospective cohort study of all hospitalized infants age <60 days treated with intravenous acyclovir (≥1 dose) for suspected or confirmed neonatal herpes simplex virus disease from January 2011 to December 2015. Infants with serum creatinine measured both before acyclovir (baseline) and during treatment were included.

CYP2C19 Phenotype and Risk of Proton Pump Inhibitor-Associated Infections.

Objectives: Proton pump inhibitors (PPIs) are often used in pediatrics to treat common gastrointestinal disorders, and there are growing concerns for infectious adverse events. Because CYP2C19 inactivates PPIs, genetic variants that increase CYP2C19 function may decrease PPI exposure and infections. We tested the hypothesis that CYP2C19 metabolizer phenotypes are associated with infection event rates in children exposed to PPIs.

A Short-Term In Vivo Evaluation of the Istanbul Heart Left Ventricular Assist Device in a Pig Model.

Objectives: A continuous-flow centrifugal blood pump system has been recently developed as an implantable left ventricular assist device for patients with endstage heart failure. The objective of this study was to evaluate the initial in vivo performance of a newly developed left ventricular assist device (iHeart or Istanbul heart; Manufacturing and Automation Research Center, Koc University, Istanbul, Turkey) in an acute setting using a pig model.

Materials And Methods: Three pigs (77, 83, 92 kg) received implants via a median sternotomy, with animals supported for up to 6 hours.

is associated with indomethacin treatment failure for patent ductus arteriosus.

To identify clinical andgenetic factors associated with indomethacin treatment failure in preterm neonates with patent ductus arteriosus (PDA). This is a multicenter cohort study of 144 preterm infants (22-32 weeks gestational age) at three centers who received at least one treatment course of indomethacin for PDA. Indomethacin failure was defined as requiring subsequent surgical intervention.

Adverse Events Associated with Risperidone Use in Pediatric Patients: A Retrospective Biobank Study.

Background: Although risperidone is increasingly used for behavioral indications in children, the associated adverse events (AEs) are not well defined in this population.

Objective: We determined the incidence of and risk factors for AEs among children treated with risperidone at our institution, an academic medical center with inpatient, outpatient, generalist, and specialist pediatric care.

Methods: The study included children aged ≤ 18 years with ≥ 4 weeks of risperidone exposure.

CYP2D6 genotype and adverse events to risperidone in children and adolescents.

Background: There are few and conflicting data on the role of cytochrome P450 2D6 (CYP2D6) polymorphisms in relation to risperidone adverse events (AEs) in children. This study assessed the association between CYP2D6 metabolizer status and risk for risperidone AEs in children.

Methods: Children ≤18 years with at least 4 weeks of risperidone exposure were identified using BioVU, a de-identified DNA biobank linked to electronic health record data.

Effect of blade curvature on the hemolytic and hydraulic characteristics of a centrifugal blood pump.

Aims:: Impeller design has a significant impact on the overall performance of a blood pump. In this study, the effect of the blade curvature was investigated by performing in silico and in vitro studies on a recently developed centrifugal blood pump.

Methods:: A computational fluid dynamics study was performed for the flow rates of 3-5 L/min at 2000 r/min.

In vitro validation of a self-driving aortic-turbine venous-assist device for Fontan patients.

Background: Palliative repair of single ventricle defects involve a series of open-heart surgeries where a single-ventricle (Fontan) circulation is established. As the patient ages, this paradoxical circulation gradually fails, because of its high venous pressure levels. Reversal of the Fontan paradox requires an extra subpulmonic energy that can be provided through mechanical assist devices.

Clinical Pharmacogenetics of Cytochrome P450-Associated Drugs in Children.

Cytochrome P450 (CYP) enzymes are commonly involved in drug metabolism, and genetic variation in the genes encoding CYPs are associated with variable drug response. While genotype-guided therapy has been clinically implemented in adults, these associations are less well established for pediatric patients. In order to understand the frequency of pediatric exposures to drugs with known CYP interactions, we compiled all actionable drug-CYP interactions with a high level of evidence using Clinical Pharmacogenomic Implementation Consortium (CPIC) data and surveyed 10 years of electronic health records (EHR) data for the number of children exposed to CYP-associated drugs.

[Occupational related burns in Abidjan].

Occupation-related burns are important issue for public health area because of its socioeconomic impact for enterprises, victims and society. We performed this study in order to define the epidemiological characteristics of these accidents. We used a retrospective study that concerned occupation-related burns notified as work accident at the national insurance fund (CNPS) for private sector in Côte d'Ivoire.

[The absence of invasive amebiasis in male homosexual AIDS patients in Recife].

The purpose of this paper was to determine if among male homosexual AIDS [correction of SIDA] patients, the Entamoeba histolytica was able to product invasive illness. From the 77 investigated patients only one (1.3%) has cysts of E.