Results 41 to 50 of about 9,301 (196)
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 +11 more
wiley +1 more source
Clinical discussion of the arteria lusoria: a case report
Jornal Vascular Brasileiro, 2017 The right subclavian artery may originate from the left portion of the aortic arch. This aberrant vessel is known as the arteria lusoria. Its course to its usual site runs behind the esophagus, which may cause a disease known as dysphagia lusoria ...
Tulio Fabiano de Oliveira Leite +4 more
doaj +1 more source
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 +7 more
wiley +1 more source
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 +7 more
wiley +1 more source
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 +2 more
wiley +1 more source
Journal of Cardiothoracic SurgeryObjective Despite key differences in pathological processes, both Intramural Hematomas and Aortic Dissections are Acute Aortic Syndromes repaired with similar surgical technique.
Sorasicha Nithikasem +11 more
doaj +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Annals of Pediatric Cardiology, 2019 Isolation of the left brachiocephalic artery (ILBA) is an extremely rare anomaly of aortic arch with diverse manifestations in the neurologic system, heart, and left upper arm.
Elaheh Malakan Rad +1 more
doaj +1 more source
Journal of Magnetic Resonance Imaging, EarlyView.ABSTRACT Background Brain development is altered in neonates with congenital heart disease (CHD), with well‐characterised reductions in regional brain volumes and enlargement of CSF spaces. However, perioperative morphological changes remain incompletely understood. Purpose To identify brain regions showing spatial patterns of coordinated expansion and
Mirthe E. M. van der Meijden +14 more
wiley +1 more source