Results 41 to 50 of about 4,442 (232)

Genetic and Developmental Basis of Cardiovascular Malformations [PDF]

open access: yes, 2016
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs ...
Azhar, Mohamad, Ware, Stephanie M.
core   +1 more source

Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome

open access: yesRevista Portuguesa de Cardiologia, 2015
Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of ...
Ricardo Duarte, Humberto Morais
doaj   +1 more source

Management for Heterotaxy Syndrome With Functional Single Ventricle and Extracardiac Total Anomalous Pulmonary Venous Connection

open access: yesTokyo Women's Medical University Journal, 2023
Background: Heterotaxy syndrome associated with functional single ventricle and extracardiac total anomalous pulmonary venous connection (TAPVC) is characterized by high operative risks and has high mortality rate.
Minori Tateishi, Masaaki Koide
doaj   +1 more source

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]

open access: yes, 2017
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Abete   +150 more
core   +1 more source

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence:two case reports and a review of the literature [PDF]

open access: yes, 2016
Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions.
Bjørsum-Meyer, T.   +3 more
core   +3 more sources

Novel use of covered stents to treat profound cyanosis in a hepatic vein exclusion Fontan

open access: yesAnnals of Pediatric Cardiology, 2019
Fontan completion in patients with complex cardiac anatomy, and specifically heterotaxy syndrome, can present unique physiologic considerations. For example, existing venous connections may be “unmasked” after a cavopulmonary anastomosis operation.
Sarosh P Batlivala, Makram R Ebeid
doaj   +1 more source

Polysplenia syndrome with complex heart disease and jejunal atresia with malrotation in neonate: A case report

open access: yesClinical Case Reports, 2020
Polysplenia is heterotaxy syndrome or bilateral left‐sidedness. We report a case of polysplenia syndrome in order to draw attention to this rare syndrome that must be excluded in an infant presenting with congenital heart disease and intestinal ...
Roya Arif Huseynova   +4 more
doaj   +1 more source

Splenic Infarct with Polysplenia Syndrome

open access: yesJournal of the Belgian Society of Radiology, 2022
A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed multiple spleens in the left abdomen and one of the spleen showing low attenuation areas ...
Qin Ling Zhu, Wenjun Zhu
doaj   +1 more source

Appropriate Route Selection for Extracardiac Total Cavopulmonary Connection in Apicocaval Juxtaposition [PDF]

open access: yes, 2012
BACKGROUND:A malpositioned heart with apicocaval juxtaposition may complicate the management of patients with functional single ventricles when total cavopulmonary connection is performed.
Abe Masakazu   +9 more
core   +1 more source

Identification of A p300–SP1–BRD4 Transcriptional Axis as a Key Driver of AR Hyperactivation in Polycystic Ovarian Syndrome

open access: yesAdvanced Science, EarlyView.
This study reveals a pivotal epigenetic regulatory role for the histone acetyltransferase p300, demonstrating that its acetylation of histone 3 at lysine 18 and 27 (H3K18ac and H3K27ac), alongside the formation of the p300/BRD4/SP1 complex, drives AR activation and ovarian fibrosis in PCOS.
Zhengquan Zhu   +11 more
wiley   +1 more source

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