Results 51 to 60 of about 11,240 (218)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
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 UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study [PDF]

, 2014
Background Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder of aberrant blood vessel development characterised by arteriovenous malformations.
A W Fogarty, Adams, Bideau, Bideau, Brunet, Butler, Cottin, Dakeishi, Faughnan, Govani, Grosse, Guttmacher, Hart, I P Hall, J W Donaldson, Jameson, Jessurun, Kapur, Kjeldsen, Lewis, Nakayama, Pierruci, Plauchu, Plauchu, Porteous, R B Hubbard, Ruigomez, Sabba, Shovlin, Shovlin, Shovlin, Shovlin, T M McKeever, Townsend, Trinder, van Gent, Westermann   +36 more
core   +2 more sources

Senolytics and exercise: Dual modalities for rejuvenating muscle

The Journal of Physiology, EarlyView.
Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican, Ce Qi, Uchenna Okpechi, Maya Strand Ford, Georgina M. Ellison‐Hughes   +4 more
wiley   +1 more source

Complications of Pregnancy and Birth in Women With Vascular Malformations: A Nationwide Cross‐Sectional Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 7, Page 1493-1501, June 2026.
ABSTRACT Objective To investigate risks of pregnancy and birth in patients with peripheral vascular malformations (VMs). Design Nationwide cross‐sectional study. Setting Tertiary referral centre and Dutch national patient organisation. Population Women aged ≥ 15 years diagnosed with peripheral VM of any subtype or anatomical location.
Delano J. de Oliveira Marreiros, Max M. Lokhorst, Sophie E. R. Horbach, Merel L. E. Stor, Naomi van Hout, Victor E. A. Gerdes, Wessel Ganzevoort, Chantal M. A. M. van der Horst   +7 more
wiley   +1 more source

Emergency video-assisted thoracic surgery for ruptured pulmonary arteriovenous malformation-related hemothorax in a pregnant woman: a case report

Journal of Medical Case Reports, 2018
Background Pulmonary arteriovenous malformations are rare vascular abnormalities that permit direct communication between the pulmonary artery and vein.
Hu-Lin Christina Wang, Jia-Hao Zhang, Cheng-Hung How   +2 more
doaj   +1 more source

Clinical Study on the Association Between Lipoprotein(a) Levels and Prognosis in Patients With Acute Ischemic Stroke

Brain and Behavior, Volume 16, Issue 5, May 2026.
Elevated lipoprotein(a) is independently associated with poor 3‐month outcomes in acute ischemic stroke. Combining Lp(a) with NIHSS improves prognostic accuracy. ABSTRACT Background Lipoprotein(a) (Lp(a)) is a known cardiovascular risk factor, but its role in acute ischemic stroke (AIS) prognosis remains unclear. This study investigated the association
Xinyi Chen, Yueyu Zhang, Yi Tang, Jie Hu, Xun He, Juncang Wu   +5 more
wiley   +1 more source

Cryptogenic Perirolandic Brain Abscess in an Otherwise Healthy Young Man

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A previously healthy 19‐year‐old male presented with 1 day of transient right‐sided weakness, numbness, and gait disequilibrium after recent self‐limited sinonasal symptoms and minor nasal trauma with epistaxis. He was afebrile but with focal deficits, leukocytosis, and elevated C‐reactive protein.
Mazen Taman, Carl Porto, Jean‐Luc Lewis, Dimitrios Farmakiotis, Athar N. Malik   +4 more
wiley   +1 more source

Brain abscess as the first manifestation of pulmonary arteriovenous malformation: A case report

Advanced Biomedical Research, 2014
Pulmonary arteriovenous malformations (PAVM) are rare pulmonary vascular anomalies. Although most patients are asymptomatic, right to left shunt produced by PAVM, could result in easy access of septic or non-septic emboli to systemic circulation, end to ...
Maryam Moradi, Maryam Adeli
doaj   +1 more source

External cervical root resorption involving multiple maxillary teeth in a patient with hereditary hemorrhagic telangiectasia [PDF]

, 2005
Hereditary hemorrhagic telangiectasia (HHT) is an inherited syndrome characterized by mucocutaneous telangiectases that commonly involve the tongue, lips, fingers, and conjunctiva.
Edwards, Paul C., McVaney, Tim
core   +1 more source

Horizontal Heart Orientation as a Mechanistic Contributor to Platypnea–Orthodeoxia Syndrome in Patent Foramen Ovale

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Altered cardiac orientation in the presence of a patent foramen ovale (PFO) can contribute to platypnea–orthodeoxia syndrome (POS) and unexplained hypoxemia. In such cases, consideration of PFO closure may lead to significant clinical improvement.
Bijeta Keisham, Sanchit Duhan, Uday B. Kanakadandi, Osama Alsara, Naveed A. Adoni, Sanjay S. Mehta, Andrea Brasch, Haseeb Basha, Vishesh Paul   +8 more
wiley   +1 more source