Results 71 to 80 of about 8,947 (215)

Harlequin syndrome: The sudden onset of unilateral flushing and sweating

, 1988
Facial flushing and sweating were investigated in five patients who complained of the sudden onset of unilateral facial flushing in hot weather or when exercising vigorously.
P D Drummond, J G Morris, Morris, J.G., Drummond, P.D., S C Gandevia, Gandevia, S.C., Lance, J.W., J W Lance   +7 more
core   +1 more source

Case Report: Role of numerical simulations in the management of acute aortic syndromes

Frontiers in Cardiovascular Medicine
Penetrating aortic ulcer (PAU) represents a subset of acute aortic syndromes characterized by high rupture risk and management challenges, particularly in elderly patients with significant comorbidities.
Antonio Rizza, Vincenzo Castiglione, Vincenzo Castiglione, Katia Capellini, Cataldo Palmieri, Emanuele Gasparotti, Sergio Berti, Simona Celi   +7 more
doaj   +1 more source

Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study

Experimental Physiology, EarlyView.
Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey, Richard G. Davies, Brenig L. Gwilym, Benjamin S. Stacey, Danny Walmsley, Michael H. Lewis, Josip Butkovic, Ivan Mumlek, Brad Perry, Zvonomir Vrselja, Shigehiko Ogoh, James A. Pawelczyk, Mohamad Bashir, Richard D. White, Ian M. Williams   +14 more
wiley   +1 more source

Simultaneous Individually Controlled Upper and Lower Body Perfusion for Valve-Sparing Root and Total Aortic Arch Replacement: A Case Study

, 2011
Optimal perfusion strategies for extensive aortic resection in patients with mega-aortic syndromes include: tailored myocardial preservation, antegrade cerebral perfusion, controlled hypothermia and selective organ perfusion.
Michael W.A. Chu, Corey Adams, Rick Mayer, Philip Fernandes   +3 more
core   +1 more source

Anatomy of the ventricular septal defect in congenital heart defects: a random association?

Orphanet Journal of Rare Diseases, 2018
Background A ventricular septal defect (VSD) is an integral part of most congenital heart defects (CHD). To determine the prevalence of VSD in various types of CHD and the distribution of their anatomic types.
Meriem Mostefa-Kara, Lucile Houyel, Damien Bonnet   +2 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

The prognostic value of extracranial vascular characteristics on procedural duration and revascularization success in endovascularly treated acute ischemic stroke patients

, 2022
Introduction: Vascular anatomy might affect endovascular treatment success in acute ischemic stroke patients with large vessel occlusion. We investigated the prognostic value of extracranial vascular characteristics on procedural time and ...

core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Assessment of aortic stiffness in patients with ankylosing spondylitis using cardiovascular magnetic resonance

, 2018
To evaluate aortic stiffness in patients with ankylosing spondylitis (AS) using cardiovascular magnetic resonance (CMR) and to assess its association with AS characteristics and left ventricular (LV) remodeling.
Joshi, Parag H., Maroules, Christopher D., Ayers, Colby, van de Ven, Peter M., Nijveldt, Robin, Heslinga, Sjoerd C., van Rossum, Albert C., Peters, Mike J.L., van Halm, Vokko P., Konings, Thelma C., van der Horst-Bruinsma, Irene E., Amier, Raquel P., Biesbroek, P. Stefan, Nurmohamed, Michael T.   +13 more
core   +1 more source