Results 71 to 80 of about 33,515 (198)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1742-1748, July 2026.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Early clinical pharmacology evaluation of the novel anti‐inflammatory macrolide, glasmacinal (EP395): tolerability, pharmacokinetics and drug interactions

British Journal of Clinical Pharmacology, Volume 92, Issue 7, Page 2349-2363, July 2026.
Abstract Aims This work assessed the pharmacokinetics (PK), safety and tolerability of glasmacinal (EP395, an oral anti‐inflammatory macrolide with negligible antimicrobial activity in development for COPD treatment) in two healthy participant trials: ‘first‐in‐human’ (FIH) and ‘drug–drug‐interaction’ (DDI).
Dave Singh, Kate Hanrott, Olof Breuer, Johan Bylund, Björn Schultze, Virginia Norris   +5 more
wiley   +1 more source

Atypical Case of Takayasu Aortitis Presenting as Embolic Stroke With Concomitant Massive Thoracic Artery Aneurysm

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Multifocal aortic aneurysmal dilatation as evidenced by CT Angiography chest‐abdomen‐pelvis of the ascending aorta (A), aortic arch (B), and suprarenal abdominal aorta (C), measuring 6.0 × 6.0, 4.5 × 4.5, and 4.1 × 3.7 cm, respectively. ABSTRACT We describe the case of a 44‐year‐old female with a history significant for only hypertension who presented ...
J. Curran Henson, Jordan H. Myers, Macy Cummins, Keyur Vyas, Michael Lowry   +4 more
wiley   +1 more source

What shall we do with the Canaanites? An Ethical Perspective on Genesis 12:6

Old Testament Essays, 2017
Colonial biblical interpretation—such as for example Moritz Merker’s study of the Maasai (1904/1910), where he claims that they are historically related to the ancient Israelites—tend to see both “Israelites” and their counterparts, the “Canaanites,” in ...
Knut Holter
doaj  

Ethanol Infusion Into the Vein of Marshall for Atrial Fibrillation: Clinical Efficacy and Technical Limitations

Clinical Cardiology, Volume 49, Issue 7, July 2026.
Evaluating EIVOM in atrial fibrillation: Clinical efficacy, mechanistic insights, and technical considerations. Abbreviations: AF, atrial fibrillation; AT, atrial tachycardia; CS, coronary sinus; EIVOM, ethanol infusion into the vein of Marshall; LAA, left atrial appendage; LIPV, left inferior pulmonary vein; MA, mitral annulus; MI, mitral isthmus; RF,
Xuepeng Zheng, Hongliang Yang, Huan Sun, Ming Yu, Lujia Ni, Daoyuan Si, Yuquan He   +6 more
wiley   +1 more source

The Burden of Arrhythmias and Conduction Abnormalities Among Patients Presenting With Palpitations at a Cardiac Specialist Care Center in Ghana: A Retrospective Cross‐Sectional Study

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Palpitation is one of the commonest presenting complaints to the hospital. The underlying problem may or may not be cardiac. Symptoms may not be present at the time of hospital presentation, and the patient's resting electrocardiogram (ECG) may be normal.
Gordon Manu Amponsah, Kwadwo Faka Gyan, Emmanuel Acheamfour‐Akowuah, Philomena Owusu, Isaac Kofi Owusu   +4 more
wiley   +1 more source

Cardiac Manifestation in Wilson Disease: Results of a 9‐Year Prospective Cohort

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Wilson disease (WD) is a rare autosomal recessive disorder. Although hepatic and neurologic manifestations are characterized, long‐term cardiac outcomes remain poorly defined. We report the first longitudinal study systematically assessing cardiac symptoms and events over nearly a decade in WD.
S. Quick, M. Cybularz‐Bednarek, L. Wiegand, K. Zhang, K. Ibrahim, M. Christoph, J. Hamann, A. Linke, F. M. Heidrich   +8 more
wiley   +1 more source

In-Situ Process Monitoring in Additive Manufacturing Using Statistics and Pre-Process Data

Tehnički Glasnik, 2020
Long computation times are a major obstacle for the application of in-situ monitoring in additive manufacturing. This paper presents rapid in-situ monitoring, which returns a control value within typical build times. Observing powder bed fusion processes
Eva Maria Scheideler, Andrea Huxol
doaj  

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source