Results 61 to 70 of about 10,361 (161)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

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

Allergy, Volume 81, Issue 8, Page 2744-2774, August 2026.
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, Inmaculada Martinez‐Saguer, Konrad Bork, Anastasios E. Germenis, Anete S. Grumach, Hanga Réka Horváth, Andrea Luczay, Andrea Zanichelli, Markus Magerl, Stephen Betschel, Emel Aygören‐Pürsün, Jonathan A. Bernstein, Isabelle Boccon‐Gibod, Teresa Caballero, Mauro Cancian, Sandra Christiansen, Danny M. Cohn, Francisco Contreras, Sansanee Craig, Camelia Isaic, Ankur Jindal, Constance H. Katelaris, Hilary J. Longhurst, Andrew MacGinnitie, Jonny Peter, Grzegorz Porebski, Avner Reshef, Dinh Van Nguyen, Bruce Zuraw, Anthony J. Castaldo, Henrik Balle Boysen, Timothy Craig, the Hereditary Angioedema Working Group (HAWK Group), Adil Adatia, Fiorella Adrianzen, Shimalee Andarawewa, Sladjana Andrejevic, Gabriel Emmanuel Arce‐Estrada, Ecem Ay, Adil Bahadir, Noemi Anna Bara, Marko Barešić, Krasimira Baynova, Shira Benor, Juliette Besson, Dharmagat Bhattarai, Patricia Bigas, Alexis Bocquet, Laurence Bouillet, Nicholas Brodszki, Thomas Buttgereit, Rosario Cabañas, Regis Campos, Asuman Çamyar, Orlane Chol, Stefan Cimbollek, Monica Colque Bayona, Cascia Day, Mats de Lange, Alex Fam, Davide Firinu, Tomas Freiberger, Johana Gil‐Serrano, Delphine Gobert, Dawn Goodyear, Maria del Mar Guilarte Clavero, Svetlana Hadvabova, David Hagin, Roman Hakl, George Harmat, Mensuda Hasanhodzic, Gocki Jacek, Joshua Jacobs, Rashmi Jain, Milos Jesenak, Amin Kanani, Daniela Kapustová, Boris Karanovic, Paul Keith, Tamar Kinaciyan, Pavlina Kralickova, Marcin Kurowski, Krzysztof Kuziemski, Rolando Laurel‐Laurel, Iris Leibovich‐Nassi, Gabriela Leon Zambrana, Ramon Lleonart, Lorena Lorenzo, Ferhat Maksudov, Ania Manson, Dusanka Markovic, Jayne McGucken, Nihal Mete Gokmen, Radovan Mijanovic, Vania Maria Miranda Saavedra, Irene Modestou, Sandra Nieto, Nora Nilsson, Patrik Nordenfelt, Francesca Perego, Angelica Petraroli, Elsa Phillips‐Angles, Alicia Prieto‐García, Michel Raguet, Marc Riedl, Matija Rijavec, Solange Rodrigues Valle, Yaryna Romanyshyn, Antoine Saut, Riccardo Senter, Branislav Šlenker, Marta Sobotkova, Peter J. Spaeth, Marcin Stobiecki, Linda Sundler Björkman, Mireille‐Maria Suttle, Agnes Szilágyi, Paola Triggianese, Kassiani Tzeli, Martina Vachová, Anna Valerieva, Solange Valle, Lilian Varga, Walter A. Wuillemin, Patrick Yong, Zhi Yuxiang, Liudmyla Zabrodska, Radana Zachova, Julia Zharankova   +128 more
wiley   +1 more source

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

Pediatria 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

CONGENITAL LONG QT SYNDROME MASKED BY AQUIRED LONG QT SYNDROME

Journal of the American College of Cardiology, 2016
Some patients with acquired long QT syndrome (LQTS) represent an incomplete form of congenital LQTS in which a mutation or polymorphism in one of the LQTS genes is clinically inapparent until the patient is exposed to a particular drug or other predisposing factor.
Hideka Hayashi, Hiroshi Fujita, Yoshimi Takahashi, Shinsuke Yamanaka, Tsuyoshi Shinozaki   +4 more
openaire   +1 more source

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

Clinical Endocrinology, Volume 105, Issue 2, Page 151-162, August 2026.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth, Thomas J. O'Leary, Craig L. Doig, Natalie Taylor, Jasminder Dosanjh, David R. Woods, Michael J. Stacey, Robert M. Gifford   +7 more
wiley   +1 more source

Masquerade of a Silent Killer

Oman Medical Journal, 2011
Congenital long QT syndrome (LQTS), referred to as a ticking time-bomb is a cause of sudden death in young infants, children and adults.1 Its prevalence is estimated to be 1 in 2500 to 1 in 10,000 individuals internationally, with no racial predilection ...
Padmini Venkataramani, Muthuswamy Ramaswamy   +1 more
doaj  

Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy

Annals of Indian Academy of Neurology, 2012
The long QT syndrome (LQTS) is a cause of syncope and sudden death. Jervell and Lange-Nielson syndrome (JLNS) is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with congenital deafness.
Jagdish P Goyal, Alka Sethi, V B Shah
doaj   +1 more source

Association of the NOS1AP rs10494366 Genetic Variant With Drug‐Induced QT Prolongation

Clinical and Translational Science, Volume 19, Issue 8, August 2026.
ABSTRACT Drug‐induced QTc prolongation (diQTP) is a major risk factor for torsades de pointes and sudden cardiac death. This study evaluated whether carriers of the G allele of the NOS1AP rs10494366 T > G variant have greater risk for diQTP when prescribed high‐risk QT‐prolonging medications.
Christina A. Pippis, Ana I. Lopez‐Medina, Choudhary Anwar A. Chahal, Jasmine A. Luzum   +3 more
wiley   +1 more source

T-wave alternans in long QT syndrome

Annals 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

[Congenital long QT syndrome].

Herz, 2007
The long QT syndrome is characterized by prolongation of the heart rate-corrected QT interval on the electrocardiogram and by the occurrence of life-threatening ventricular tachyarrhythmias of the torsade de pointes type. In most cases, the disorder becomes clinically manifest during childhood.
Najeeb, Ahmed, Kamran, Riaz, Ripudeep, Rai, Mohammed, Osman, Abdul, Wase   +4 more
openaire   +3 more sources