Results 111 to 120 of about 45,337 (219)

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell   +21 more
wiley   +1 more source

The classical “R-on-T” phenomenon

open access: yesIndian Heart Journal, 2015
The polymorphic ventricular tachycardia (PVT) is uncommon arrhythmia with multiple causes and has been classified according to whether they are associated with long QT interval or normal QT.
Fatih Oksuz   +9 more
doaj   +1 more source

コウテンセイ QT エンチョウ ショウコウグン ノ ビョウタイ [PDF]

open access: yes, 2017
The definition of long QT syndrome depends on demonstration of QT prolongation and recurrent syncope due to life-threatening ventricular arrhythmia .
Yamamoto, Hirofumi
core  

A Common Genetic Variant Risk Score is Associated with Drug-Induced QT Prolongation and Torsade de Pointes Risk: A Pilot Study. [PDF]

open access: yes, 2017
Background -Drug-induced QT interval prolongation, a risk factor for life-threatening ventricular arrhythmias, is a potential side effect of many marketed and withdrawn medications.
Behr, ER   +11 more
core   +2 more sources

Mitochondrial Dysfunction Contributes to Decompensation in a Zebrafish Model of Isoproterenol‐Induced Heart Failure

open access: yesActa Physiologica, Volume 241, Issue 12, December 2025.
ABSTRACT Aim Heart failure is a clinical syndrome where the heart's structural or functional impairment leads to inadequate blood flow to meet the body's metabolic demands. Mitochondrial dysfunction is increasingly recognized as a central contributor underlying the contractile impairment observed in the failing heart.
Manuel Vicente   +6 more
wiley   +1 more source

Drug-induced life-threatening arrhythmias and sudden cardiac death: A clinical perspective of long QT, short QT and Brugada syndromes

open access: yesRevista Portuguesa de Cardiologia, 2018
Sudden cardiac death is a major public health challenge, which can be caused by genetic or acquired structural or electrophysiological abnormalities. These abnormalities include hereditary channelopathies: long QT, short QT and Brugada syndromes.
Diogo Ramalho, João Freitas
doaj   +1 more source

Treatment of Adult Patients with Relapsed/Refractory B-Cell Philadelphia-Negative Acute Lymphoblastic Leukemia [PDF]

open access: yes, 2019
The majority of adult patients affected by B-cell acute lymphoblastic leukemia (B-ALL) will relapse after an initial response, while approximately 20% will display primary resistant disease. Patients suffering from relapsed/refractory B-ALL have a very
Lanza, Francesco   +2 more
core   +1 more source

Elucidation of the zinc binding site in KCNQ channels

open access: yesBritish Journal of Pharmacology, Volume 182, Issue 24, Page 6081-6099, December 2025.
Background and Purpose KCNQ1‐5 (Kv7.1–7.5) are members of a family of voltage‐gated potassium channels with prominent function in the nervous and cardiovascular systems and in epithelia. KCNQ channels are activated by intracellular free zinc, but the molecular mechanism of this effect is poorly understood and zinc binding sites within KCNQ channels are
Shuo Zhang   +6 more
wiley   +1 more source

Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group

open access: yesLiver International, Volume 45, Issue 12, December 2025.
ABSTRACT Background and Aim Alagille syndrome (ALGS) is a rare disorder characterised by cholestasis and extrahepatic manifestations. Given the current era of ileal bile acid transporter (IBAT) inhibitor therapies that reduce serum bile acid (SBA) levels, we evaluated whether SBA predicts liver disease outcomes in ALGS.
Carla Fiorella Murillo Perez   +97 more
wiley   +1 more source

Ventricular Tachycardia in the Absence of Structural Heart Disease [PDF]

open access: yes, 2005
In up to 10% of patients who present with ventricular tachycardia (VT), obvious structural heart disease is not identified. In such patients, causes of ventricular arrhythmia include right ventricular outflow tract (RVOT) VT, extrasystoles, idiopathic ...
Appleton, Christopher P   +4 more
core   +1 more source

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