Results 51 to 60 of about 73,026 (266)

Checkpoint‐Directed Glycoengineering Reprograms the Vascular Lumen for Siglec‐Mediated Immune Regulation

open access: yesAdvanced Science, EarlyView.
Checkpoint‐directed glycoengineering installs sialylated ligands on the donor vascular lumen during ex vivo preservation, creating a localized Siglec‐7/9‐engaging interface. The engineered glycocalyx suppresses immune‐cell activation, complement deposition, and microvascular injury in arterial and kidney allografts while preserving endothelial ...
Md Mohosin Rana   +19 more
wiley   +1 more source

Imaging findings in the right aortic arch with mirror image branching of arch vessels: An unusual cause of dysphagia

open access: yesMedical Journal of Dr. D.Y. Patil University, 2015
We report a case of a 72-year-old female with a right aortic arch with mirror-image branching of arch vessels presenting with dysphagia, and characteristic images on barium esophagogram, contrast-enhanced computed tomography scan, and magnetic resonance ...
Guneet Singh   +3 more
doaj   +1 more source

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

open access: yesAmerican 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   +31 more
wiley   +1 more source

Type III aortic arch angulation increases aortic stiffness: Analysis from an ex vivo porcine modelCentral MessagePerspective

open access: yesJTCVS Open
Objective: The relationship among increased aortic arch angulation, aortic flow dynamics, and vessel wall stiffness remains unclear. This experimental ex vivo study investigated how increased aortic arch angulation affects aortic stiffness and stent ...
Tim J. Mandigers, MD   +10 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Surgical repair of a pseudocoarctation with cervical aortic arch complicated by multiple aneurysms of the aorta: a case report

open access: yesThe Pan African Medical Journal, 2017
Aortic pseudocoarctation is a rare congenital anomaly characterized by elongation and deformity of the aortic arch and is known to be associated with aneurysmal formation.
Said Makani   +5 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner   +7 more
wiley   +1 more source

Surgical repair and reconstruction of aortic arch in debakey type I aortic dissection: recent advances and single-center experience in the application of branched stent graft

open access: yesJournal of Cardiothoracic Surgery, 2017
Background Aortic dissection (AD) represents a clinically uncommon aortic pathology which predicts a dismal prognosis if not promptly treated. In acute Debakey type I AD (ADIAD), aortic lesion extends from aortic root to even distal abdominal aorta among
Qian Zhang   +7 more
doaj   +1 more source

Aortic arch in the neck

open access: yesThe Journal of Thoracic and Cardiovascular Surgery, 1974
In this report we shall describe the first case of cervical aortic arch in which the anomaly was diagnosed clinically and the patient operated upon successfully. The lesion, an aorta with the apex of its arch located in the neck, is rare. Its importance lies (1) in the need to consider it in the differential diagnosis of pulsating neck masses; (2) in ...
I W, DuBrow   +4 more
openaire   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

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