Results 21 to 30 of about 36,230 (243)

Creation of Ventricular Septal Defects on the Beating Heart in a New Pig Model [PDF]

European Surgical Research, 2008
<i>Background/Aims:</i> So far, surgical and interventional therapies for muscular ventricular septal defects (mVSDs) beyond the moderator band have had their limitations. Thus, alternative therapeutic strategies should be developed. We present a new animal model for the evaluation of such strategies.
Kozlik-Feldmann, R., Lang, N., Sodian, R., Aumann, R., Rassoulian, D., Hinterseer, M., Schmitz, C., Netz, H.   +7 more
openaire   +3 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Genetic Insights into Congenital Cardiac Septal Defects—A Narrative Review

Biology
Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide.
Jorge L. Cervantes-Salazar, Nonanzit Pérez-Hernández, Juan Calderón-Colmenero, José Manuel Rodríguez-Pérez, María G. González-Pacheco, Clara Villamil-Castañeda, Angel A. Rosas-Tlaque, Diego B. Ortega-Zhindón   +7 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Sox9 Expression in the Second Heart Field; A Morphological Assessment of the Importance to Cardiac Development with Emphasis on Atrioventricular Septation

Journal of Cardiovascular Development and Disease, 2022
Failure to form the septal structures that separate the left and right cardiac chambers results in defects that allow shunting of blood from one side of the heart to the other, leading to the mixing of oxygenated and de-oxygenated blood.
Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Emily A. Fitzgerald, Hannah G. Tarolli, Andrew B. Harvey, Andy Wessels   +6 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Challenges in treatment of postinfarction ventricular septal defect and heart failure

Vojnosanitetski pregled, 2015
Introduction. Acquired ventricular septal defect (VSD) is uncommon, but serious mechanical complication of acute myocardial infarction with poor outcome and high mortality rate in surgically or medically treated patients. Case report. We report a 58-year-old male patient admitted to our hospital six days following acute inferior myocardial ...
Mangovski, Ljupco, Kozlik-Feldmann, Rainer, Peric, Miodrag, Jovovic, Ljiljana, Farkic, Mihajlo, Dekic, Dragica   +5 more
openaire   +4 more sources

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Case report—CARMAT: the first experience with the Aeson bioprosthetic total artificial heart as a bridge to transplantation in a case of post-infarction ventricular septal rupture

Frontiers in Cardiovascular Medicine, 2023
BackgroundPost-infarction ventricular septal defects remain one of the most feared complications after myocardial infarction with high mortality rates. In special cases, surgical or interventional treatment strategies are technically not feasible and do ...
Katharina Huenges, Bernd Panholzer, Jochen Cremer, Assad Haneya   +3 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source