Results 141 to 150 of about 681,656 (299)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

A Case of Anomalous Left Coronary Artery Arising From the Pulmonary Artery in Adulthood: Multidetector Computed Tomography Coronary Angiography Findings

Eurasian Journal of Medicine, 2019
Anomalous left coronary artery arising from the pulmonary artery (ALCAPA) is a rare but very serious congenital coronary artery anomaly. Multidetector computed tomography (MDCT) coronary angiography has recently become the gold standard for depicting ...
Veysel Akgun, Bilal Battal, Bulent Karaman, Fatih Ors, Mutlu Saglam, Mustafa Tasar   +5 more
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Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Neutrophil Extracellular Traps Block Fibrinolysis in Ischemic Stroke

Annals of Neurology, EarlyView.
Objectives Intravenous thrombolysis (IVT) failure in acute ischemic stroke (AIS) is frequent, but its causes remain elusive. We investigated whether biologically relevant intrathrombus concentrations of tissue plasminogen activator (tPA) were achieved in failed IVT and whether neutrophil extracellular traps (NETs) contributed to this therapeutic ...
Mialitiana Solo Nomenjanahary, Jean‐Philippe Desilles, Fatima Zemali, Astride Perrot, Lucas Di Meglio, Sara Zalghout, Jéromine Fasille, Jérémy Neel, Stéphane Loyau, Julien Labreuche, Marie‐Charlotte Bourrienne, Dorothée Faille, François Delvoye, Véronique Ollivier, Sébastien Dupont, Jasmina Rogozarski, Nahida Brikci‐Nigassa, Robert L. Medcalf, Nadine Ajzenberg, Mikael Mazighi, Benoît Ho‐Tin‐Noé, the compoCLOT Study Group   +21 more
wiley   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

Advanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab, Matt Govendir, Kristina Andelovic, Zachary Och, Fatemeh Karimi, Munira Xaymardan, Tomasz Jungst, Jelena Rnjak‐Kovacina, Nona Farbehi   +8 more
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Hepatic morphology and serum biochemical profile according to dry and rainy seasons in Pygocentrus nattereri (Characiformes: Serrasalmidae)

The Anatomical Record, EarlyView.
Abstract This study investigated the physiological and morphological adaptations of the liver of the carnivorous fish Pygocentrus nattereri (piranha) in response to seasonal variations (dry and rainy seasons) in the Brazilian Pantanal. The objective was to describe how the liver, a central organ in metabolic regulation, responds to environmental ...
Maria Eduarda Corona Garcia, Sandriely F. Marcondes, Mayara S. Siqueira, Taynara R. F. Leão, Robson A. Rodrigues, Karine N. N. Farias, André L. N. Silva, Karin Virgínia Kuibida, Lilian Franco‐Belussi, Carlos E. Fernandes   +9 more
wiley   +1 more source

Cardiac morphological and morphometric analysis of Ardea alba

The Anatomical Record, EarlyView.
Abstract Ardea alba (Linnaeus, 1758) is a widely distributed heron species whose cardiovascular morphology remains poorly described. This study aimed to characterize the cardiac morphology and morphometry of adult A. alba. Ten specimens were analyzed using radiographic, morphometric, histological, scanning electron microscopy, and three‐dimensional ...
Julia Vaz Feio, Max Alex Santos Ferreira, Elane Guerreiro Giese, Érika Branco, Antônio Basílio Guerreiro Junior, Ana Rita de Lima   +5 more
wiley   +1 more source

THE USE OF THERMAL IMAGER TO ASSESS THE ADEQUACY OF MYOCARDIAL REVASCULARIZATION IN CORONARY BYPASS SURGERY

Неотложная медицинская помощь, 2016
. Over the past two years, thermal  imaging complex (TIC) NEC TH-9100 has been used in all patients undergoing coronary bypass  surgery  in the  department of emergency  coronary surgery  to  assess the  state  of the  coronary arteries, adequacy  of ...
Y. B. Brand, M. N. Mazanov, D. V. Chernyshev   +2 more
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