Results 61 to 70 of about 23,188 (240)

Adverse reactions of amiodarone [PDF]

open access: yes, 2019
Adverse drug reaction is defined by the World Health Organization as any response to a drug that is noxious and unintended and occurs at a dose normally used in man.
Calvosa, Leonardo   +5 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]

open access: yes, 2013
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J.   +4 more
core   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

A rare association of long QT syndrome, syndactyly and atrial septal defect (timothy syndrome) – Case report and literature review

open access: yesIHJ Cardiovascular Case Reports, 2017
Timothy syndrome (TS) is a rare genetic disorder characterized by an abnormally prolonged cardiac “repolarization” time (long QT interval). This predisposes individuals to arrhythmias, cardiac arrest and sudden death.
Bhupendra K. Sihag, Vikas Agrawal
doaj   +1 more source

Determining the Health Problems of Alaska Military Youth Academy Participants [PDF]

open access: yes, 2014
Alaska Military Youth Academy is an accredited residential high school program that utilizes a quasi-military approach to teach life skills to at-risk youth.
Doughty, Mark W.
core  

Shortening of the Short Refractory Periods in Short QT Syndrome. [PDF]

open access: yes, 2017
BACKGROUND: Diagnosis of short QT syndrome (SQTS) remains difficult in case of borderline QT values as often found in normal populations. Whether some shortening of refractory periods (RP) may help in differentiating SQTS from normal subjects is unknown.
Cardin, C   +10 more
core   +3 more sources

Acquired long QT syndrome: as risky as congenital long QT syndrome? [PDF]

open access: yesEuropace, 2011
This editorial refers to ‘Role of implantable cardioverter defibrillator therapy in patients with acquired long QT syndrome: A long-term follow-up’ by G. Monnig et al ., on page 396 Long QT syndrome (LQTS) describes a group of disorders characterized by QT interval prolongation secondary to delayed cardiac repolarization that may either be genetic ...
Leonie C H, Wong, Elijah R, Behr
openaire   +2 more sources

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

open access: yesAllergy, EarlyView.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas   +128 more
wiley   +1 more source

Site-Directed Mutagenesis and Site-Specific Binding Analysis of Calmodulin (CaM) [PDF]

open access: yes, 2017
Calcium signaling is a major regulatory system in cells and a crucial part of cell biology. An important element in the decoding of intracellular calcium concentration into downstream processes is the ubiquitous and highly conserved calcium binding ...
Dokic, Yelena
core   +1 more source

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