Results 41 to 50 of about 726,988 (249)

Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia

open access: yesPrenatal Diagnosis, Volume 42, Issue 13, Page 1627-1635, December 2022., 2022
Abstract Objectives The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear.
Marie Boisson   +11 more
wiley   +1 more source

Thoracic Endovascular Aortic Repair With Single/Double Chimney Technique for Aortic Arch Pathologies

open access: yesJournal of Endovascular Therapy, 2017
Purpose: To summarize a single-center experience using the single/double chimney technique in association with thoracic endovascular aortic repairs (TEVAR) for aortic arch pathologies.
Tun Wang   +8 more
semanticscholar   +1 more source

Aortic Arch Pulse Wave Velocity Assessed by Magnetic Resonance Imaging as a Predictor of Incident Cardiovascular Events: The MESA (Multi-Ethnic Study of Atherosclerosis)

open access: yesHYPERTENSION, 2017
The predictive value of aortic arch pulse wave velocity (PWV) assessed by magnetic resonance imaging for cardiovascular disease (CVD) events has not been fully established.
Yoshiaki Ohyama   +13 more
semanticscholar   +1 more source

Total Endovascular Treatment of Aortic Arch Disease Using an Arch Endograft With 3 Inner Branches

open access: yesJournal of Endovascular Therapy, 2017
Purpose: To report early experience with a new endovascular graft developed for aortic arch aneurysm repair in patients unfit for open surgery. Case Report: Three consecutive men (62, 74, and 69 years old) at high risk for open repair were treated for ...
R. Spear   +8 more
semanticscholar   +1 more source

Hemiarch versus total aortic arch replacement in acute type A dissection: a systematic review and meta-analysis.

open access: yesAnnals of Cardiothoracic Surgery, 2016
BACKGROUND Despite recent advances in aortic surgery, acute type A aortic dissection remains a surgical emergency associated with high mortality and morbidity.
S. Poon   +5 more
semanticscholar   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Fetuses with right aortic arch: a multicenter cohort study and meta‐analysis

open access: yesUltrasound in Obstetrics and Gynecology, 2016
Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of fetal RAA without intracardiac abnormalities (ICA) to guide postnatal management.
F. D’Antonio   +3 more
semanticscholar   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Prevalence of type III arch configuration in patients with type B aortic dissection.

open access: yesEuropean Journal of Cardio-Thoracic Surgery, 2019
OBJECTIVES Type III aortic arch configuration consistently presents anatomical and biomechanical characteristics which have been associated with an increased risk of type B aortic dissection (TBD).
M. Marrocco-Trischitta   +9 more
semanticscholar   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

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