Results 51 to 60 of about 615,985 (187)

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

open access: yesEpileptic 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

Aortic Arch

open access: yes, 2021
From Slide 4-6 - Aortic Arch, Posterior ...

core  

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie   +7 more
wiley   +1 more source

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

open access: yes, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie   +3 more
core  

Neonatal aortic arch surgery

open access: yes, 2008
Surgical repair of the aortic arch is entailed in the neonatal period of patients with: hypoplastic left heart syndrome, interrupted aortic arch, hypoplastic aortic arch and complex aortic coarctation. Aortic arch surgery requires a period of circulatory
Oppido G   +3 more
core   +1 more source

Isolation of the left brachiocephalic artery revisited: A 52-year literature review and introduction of a novel anatomic-clinical-prognostic classification

open access: yesAnnals 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

Aortic Arch Anomalies and Pulmonary Artery Anomalies

open access: yes, 2020
Congenital variants and anomalies of the aortic arch are important to recognize as they may be associated with vascular rings, congenital heart disease, and chromosomal abnormalities, and can have important implications for prognosis and management.
Prashant Mahawar
core   +1 more source

Structural Covariance Analysis of Altered Brain Development in Neonates With Congenital Heart Disease After Surgery

open access: yesJournal 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

IgG4-related aortitis mimicking acute aortic and coronary syndromes, multimodality imaging–pathology correlation: a case report

open access: yesFrontiers in Cardiovascular Medicine
BackgroundIgG4-related aortitis is an uncommon inflammatory condition that can closely mimic both acute aortic and coronary syndromes, posing a major diagnostic challenge in patients presenting with chest pain.Case summaryA 64-year-old man with prior non–
Laura Victoria Torres-Araujo   +13 more
doaj   +1 more source

Baroreflex Failure After Surgical Resection of Bilateral Carotid Body Tumors: A Systematic Review

open access: yesThe Laryngoscope, EarlyView.
ABSTRACT Objective Surgery remains the definitive treatment for carotid body tumors (CBTs); however, concern persists regarding the risk of baroreflex failure (BRF) following bilateral CBT resection. The true incidence and long‐term clinical course of BRF remain poorly defined. We performed a systematic review to examine the risk and clinical course of
Alex Z. Graboyes   +8 more
wiley   +1 more source

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