Results 51 to 60 of about 28,031 (243)

Acute coronary syndrome of paradoxical origin

Revista Portuguesa de Cardiologia, 2013
We describe a rare case of acute myocardial infarction secondary to paradoxical embolism complicating acute pulmonary embolism. A 44-year-old woman presented to the emergency department with chest pain.
Ana Rita Ferreira, António Freitas, Pedro Magno, Ana Oliveira Soares, Pedro Farto e Abreu, José Pedro Neves, Victor M. Gil   +6 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Body position and oxygenation: An intriguing relationship

Revista Portuguesa de Cardiologia, 2014
Dyspnea and hypoxemia are among the most common symptoms and signs that need to be assessed in clinical practice.This case illustrates how simple steps in history taking and physical examination can be crucial for diagnosis.We present a patient with ...
Patrícia Rodrigues, Marta Monteiro, Paulo Palma, Luís Sousa-Pereira, Sofia Cabral, Filomena Oliveira, Vasco Dias, Severo Torres   +7 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

Anatomical Study of Pterygospinous and Pterygoalar Bar in Human Skulls with their Phylogeny and Clinical Significance [PDF]

Journal of Clinical and Diagnostic Research, 2014
Background: Pterygospinous and pterygoalar ligaments present at the cranial base may sometimes get ossified leading to the formation of complete or incomplete bony bars in relation to foramen ovale.
Kavitha Kamath. B, Vasantha. K
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Extensive Pulmonary Thromboembolism and Serious Threat of Systemic Thromboembolism in a Suspected COVID Recovered Patient

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2021
Hemodynamically significant large pulmonary embolism causes right ventricular dysfunction that stretches open the foramen ovale in the atrial septum. Paradoxical embolism is common in patients with right ventricular dysfunction. While anticoagulation and
Pramod Sagar, Ejaz Ahamed Sheriff, Kothandam Sivakumar   +2 more
doaj   +1 more source

A Case of Paradoxical Cerebral Embolism Associated with Patent Foramen Ovale [PDF]

, 2003
We report a case of paradoxical cerebral embolism caused by a patent foramen ovale. A 38-year-old woman was admitted to our hospital with left hemiplegia.
深谷, 幸雄, 瀬口, 達也, 外間, 政信, 徳重, 一雄, 後藤, 博久, 天野, 純, 瀬戸, 達一郎   +6 more
core  

Concomitant fat embolism syndrome and pulmonary embolism in a patient with patent foramen ovale [PDF]

, 2020
We present a rare case of a patient with concurrent fat embolism and pulmonary embolism, in a closed femur fracture with patent foramen ovale (PFO). A 24-year-old man was involved in a motor vehicle accident with a closed left midshaft femur fracture. He
Yeak, Raymond Dieu Kiat, Liew, Siew Khei, Raymond DK Yeak, Siew Khei Liew   +3 more
core   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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