Results 161 to 170 of about 128,678 (309)

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source

Is There a Typical Doppler Pattern in Patients With Apical Hypertrophic Cardiomyopathy With Aneurysm?

, 2023
Gerardo Lo Russo, Mauro Pepi, Saima Mushtaq, Valentina Mantegazza, Fabrizio Celeste   +4 more
openalex   +2 more sources

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

On-pump intracardiac echocardiography during septal myectomy for hypertrophic cardiomyopathyCentral Message

JTCVS Techniques, 2020
David M. Williams, MD, Robert G. Nampi, MD, Muhamed Saric, MD, PhD, Eugene A. Grossi, MD, Mark V. Sherrid, MD, Daniel G. Swistel, MD   +5 more
doaj   +1 more source

Heterogenous atrial conduction in patients with hypertrophic cardiomyopathy and atrial fibrillation [PDF]

Magdalena Kliś, Ali Gharaviri, Vinush Vigneswaran, Iain Sim, Neil Bodagh, Steven Niederer, Matthew J. O’Neill, S E Williams   +7 more
openalex   +1 more source

CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy [PDF]

, 2018
Diogo Mosqueira, Ingra Mannhardt, Jamie R. Bhagwan, Katarzyna Lis-Slimak, Puspita Anggraini Katili, Elizabeth Scott, Mustafa Hassan, Maksymilian Prondzynski, Stephen C. Harmer, Andrew Tinker, James G.W. Smith, Lucie Carrier, Philip M. Williams, Daniel J. Gaffney, Thomas Eschenhagen, Arne Hansen, Chris Denning   +16 more
openalex   +1 more source

“So, How Does It Look?” The Role of Cardiac Sonographers in Communicating Preliminary Results to Patients Within New South Wales: A Legislative and Ethical Review

Sonography, Volume 13, Issue 1, March 2026.
ABSTRACT Cardiac sonographers play a critical role in image acquisition and preliminary interpretation of echocardiography examinations. In New South Wales (NSW), cardiac sonographers frequently encounter the ethically complex and professionally challenging question from patients: “so, how does it look?” Despite their capacity to recognize significant ...
James Gregory Rendina Silcock
wiley   +1 more source

Systematic identification and analysis of dysregulated miRNA and transcription factor feed‐forward loops in hypertrophic cardiomyopathy [PDF]

, 2018
Hongbo Shi, Jiayao Li, Qiong Song, Liang Cheng, Haoran Sun, Wenjing Fan, Jianfei Li, Zhenzhen Wang, Guangde Zhang   +8 more
openalex   +1 more source

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary [PDF]

, 2020
Steve R. Ommen, Seema Mital, Michael A. Burke, Sharlene M. Day, Anita Deswal, Perry Elliott, Lauren L. Evanovich, Judy Hung, José A. Joglar, Paul F. Kantor, Carey Kimmelstiel, M. Kittleson, Mark S. Link, Martin S. Maron, Matthew W. Martinez, Christina Y. Miyake, Hartzell V. Schaff, Christopher Semsarian, Paul Sorajja   +18 more
openalex   +1 more source

Artificial Intelligence‐Enhanced Electrocardiography for Predicting Paroxysmal Atrial Fibrillation From Sinus Rhythm: Impact of Data Integration Across Institutions and Devices

Annals of Noninvasive Electrocardiology, Volume 31, Issue 2, March 2026.
We developed CNN models using sinus rhythm ECG data from two institutions using distinct ECG systems. A fine‐tuned model trained on homogeneous datasets from cardiology departments consistently achieved high performance, whereas a model trained on heterogeneous datasets demonstrated lower performance.
Shinya Suzuki, Mari Amino, Nobumoto Moriai, Yoshifumi Sumioka, Akira Hyodo, Keiichi Satoh, Tsuneo Takayanagi, Takuya Umemoto, Yota Sekiguchi, Naomi Hirota, Atsuhiko Yagishita, Yuji Ikari, Taira Nakayama, Yoichi Ohnuki, Eiichiro Nagata, Jun Motogi, Takeshi Yamashita, Koichiro Yoshioka   +17 more
wiley   +1 more source