Results 211 to 220 of about 157,591 (311)

Hypoxia and right ventricular dysfunction in patients with acute pulmonary embolism. [PDF]

Thromb J
Stannek K, Lyhne MD, Lee ES, Chang KE, Merit VT, Matthews TM, Wang G, Prucnal C, Birrenkott DA, Peters G, Horick N, Dhar I, Freitas M, Brown T, Flomenbaum S, Kabrhel C.   +15 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Persistent Apical Akinesis Following Takotsubo Syndrome With Marked Troponin Elevation: A Case Report. [PDF]

Cureus
Mishra S, Patel MB, Crowder D, Sharma S.
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2568-2574, November 2026.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Dasatinib-Induced Pulmonary Arterial Hypertension. [PDF]

JACC Case Rep
Musthafa Hafeesa N, Mufti G, Sivadasanpillai H.   +2 more
europepmc   +1 more source

May the POCUS Be With You! A Call to Radiologists and Sonographers. A Narrative Review

Australasian Journal of Ultrasound in Medicine, Volume 29, Issue 4, November 2026.
ABSTRACT Background Clinicians across many specialties now perform point‐of‐care ultrasonography (POCUS) as a question‐driven bedside examination. Emergency physicians, intensivists, cardiologists (focused cardiac ultrasound), anaesthetists, respiratory physicians, gastroenterologists and gynaecologists all perform bedside scans.
Vijay Manivel, Neha Vijay
wiley   +1 more source

A Large Retrospective Study to Evaluate Utility of Zephyr Covered Stent in Transcatheter Closure of Sinus Venosus Defects

Catheterization and Cardiovascular Interventions, Volume 108, Issue 5, Page 1808-1817, November 1, 2026.
ABSTRACT Background Transcatheter closure (TCC) of sinus venosus defects (SVD) using balloon‐expandable covered stents is an emerging alternative to surgery. ZephyrCS (Sahajanand Laser Technologies, Gandhinagar, India) is available in long lengths to suit SVD closure.
Pramod Sagar, Puthiyedath Thejaswi, Kothandam Sivakumar, Praveen Ashok Kumar   +3 more
wiley   +1 more source

Case Report: Prosthetic valve migration unmasking behçet disease after transcatheter aortic valve replacement. [PDF]

Front Cardiovasc Med
Wang X, Qin Y, Bai W.
europepmc   +1 more source