Results 51 to 60 of about 37,848 (274)

Long QT Syndrome [PDF]

open access: yes, 2020
A young woman with a history of seizure disorder and depression suffered a syncopal event. Her ECG revealed QTc prolongation, which resolved with discontinuation of QTc prolonging medications. After experiencing a recurrent syncopal episode, an implantable loop recorder revealed Torsade de pointe.
Adil Yunis, Aditya Bhonsale
openaire   +2 more sources

Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports

open access: yesJPGN Reports, EarlyView.
Abstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Geetanjali Bora   +2 more
wiley   +1 more source

T-wave alternans in long QT syndrome

open access: yesAnnals of Pediatric Cardiology, 2018
Long QT syndrome (LQTS) is a congenital disorder characterized by prolongation of QT interval in the electrocardiogram (ECG) and a propensity to develop ventricular arrhythmias, which may lead to syncope, cardiac arrest or sudden death. T-wave alternans (
Siddharth Narayan Gadage
doaj   +1 more source

Systemic Absorption and Pharmacokinetics of Five Novel Topical Dermatologic Agents: A Review

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT In recent years, innovative topical medications with novel mechanisms of action have emerged to treat common dermatologic conditions such as acne, atopic dermatitis, vitiligo, and actinic keratoses. These molecularly targeted therapies offer improved safety and tolerability compared to traditional options like corticosteroids.
Mary Dyson   +4 more
wiley   +1 more source

Quality of Life Impact of Velopharyngeal Insufficiency: The Role of Social Determinants of Health

open access: yesThe Laryngoscope, EarlyView.
This study examined the association between social determinants of health and caregiver‐reported quality of life in children with velopharyngeal insufficiency (VPI). Higher socioeconomic status was associated with improved VELO scores, whereas more favorable health/environmental conditions correlated with worse outcomes.
Wesley P. Allen   +5 more
wiley   +1 more source

Characterization of a variant in the KCNH2 gene in an Ecuadorian patient with long QT syndrome: A case report

open access: yesMedwave
Long QT syndrome is a rare cardiac channelopathy characterized by prolonged QT intervals and altered T wave morphology. The etiology of long QT syndrome is multifactorial, including environmental and genetic factors.
Santiago Cadena-Ullauri   +8 more
doaj   +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

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

Long QT interval in resting electrocardiogram – and what next? Sports cardiologist’s pointofview. Part 1. From electrophysiology to diagnostics

open access: yesPediatria i Medycyna Rodzinna, 2014
Electrocardiography is the most common and available cardiovascular diagnostic procedure and an important tool in everyday clinical practice of a family physician. Electrocardiogram interpretation is therefore an invaluable clinical skill.
Zbigniew Krenc
doaj   +1 more source

Accelerating virtual patient generation with a Bayesian optimization and machine learning surrogate model

open access: yesCPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 486-494, March 2025.
Abstract The pharmaceutical industry has increasingly adopted model‐informed drug discovery and development (MID3) to enhance productivity in drug discovery and development. Quantitative systems pharmacology (QSP), which integrates drug action mechanisms and disease complexities to predict clinical endpoints and biomarkers is central to MID3.
Hiroaki Iwata, Ryuta Saito
wiley   +1 more source

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