Results 51 to 60 of about 41,868 (235)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Early recurrent ischemic lesions in patients with cryptogenic stroke and patent foramen ovale: an observational study [PDF]

, 2018
Background: Randomized controlled trials indicate that patent foramen ovate (PFO) closure reduces risk of stroke recurrence in patients with cryptogenic stroke and PFO. However, the optimal time point for PFO closure is unknown and depends on the risk of
Audebert, Heinrich J., Braemswig, Tim Bastian, Endres, Matthias, Erdur, Hebun, Fiebach, Jochen B., Nolte, Christian H., Scheitz, Jan F., Usnich, Tatiana   +7 more
core   +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

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

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

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

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

Transcranial doppler ultrasonography should it be the first choice for persistent foramen ovale screening? [PDF]

, 2014
BACKGROUND: Persistent foramen ovale (PFO) is considered a cause of cryptogenic stroke and a risk factor for neurological events in young patients. The reference standard for identifying a PFO is contrast-enhanced transesophageal echocardiography (TEE ...
Anna Kabłak-Ziembicka, Bartosz Sobień, Jakub Podolec, Jakub Stępniewski, Lidia Tomkiewicz-Pająk, Maria Olszowska, Monika Komar, Piotr Podolec, Rafał Badacz, Tadeusz Przewłocki   +9 more
core   +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