Results 41 to 50 of about 49,976 (250)

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

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

American 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, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Isolated Persistent Fifth Aortic Arch with Right-sided Aortic Arch.

Japanese Heart Journal, 1995
A persistent fifth aortic arch was recognized in a 4-year-old boy by echocardiography, magnetic resonance imaging and angiocardiography. The case was unique in at least two respects: right-sided aortic arch, and systemic-to-pulmonary connection without intracardiac lesion.
WU, Jiunn-Ren, CHIU, Chaw-Chi, LIN, Young-Tso, HUANG, Teh-Yang   +3 more
openaire   +3 more sources

Right Aortic Arch [PDF]

Circulation, 1974
An analysis was made of 78 pathologic specimens in which a right aortic arch was present. In four, the right arch was part of a double aortic arch. In 74 cases the right aortic arch was the only arch. The cases of right aortic arch could be subdivided into two groups as follows: (1) that with a retroesophageal aortic segment (three cases) and (2) that ...
L, Knight, J E, Edwards
openaire   +2 more sources

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

American 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, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

CT Angiography for Aortic Arch Anomalies: Prevalence, Diagnostic Efficacy, and Illustrative Findings

Diagnostics
Aortic arch anomalies encompass a diverse spectrum of conditions. Elucidating the prevalence of these anomalies, their impact on patient wellbeing, and the most effective diagnostic tools are crucial steps in ensuring optimal patient care.
Radu Octavian Baz, Deria Refi, Cristian Scheau, Any Axelerad, Radu Andrei Baz, Cosmin Niscoveanu   +5 more
doaj   +1 more source

Right aortic arch with mirror image branching pattern and isolated left brachiocephalic artery: A case report

Radiology Case Reports, 2020
We present a very rare case of right aortic arch with an isolated left brachiocephalic artery in a 35-year-old female. This entity is an extremely uncommon aortic arch anomaly which has associated multisystem symptoms. We briefly discuss the hypothetical
Ayman Nada, MD, PhD, Joseph P. Cousins, PhD, MD, Humera Ahsan, MD, Jeffrey R. Kunin, MD   +3 more
doaj   +1 more source

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

American 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, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 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

Right upper lobectomy with mediastinal dissection under uniportal video-assisted thoracoscopic surgery for lung cancer in a patient with a right-sided aortic arch: a case report

Journal of Cardiothoracic Surgery
Background A right-sided aortic arch is a rare congenital vascular structure variation. Right lobectomy is not commonly performed on patients with such a condition.
Hidenori Goto, Kozo Nakanishi
doaj   +1 more source