Results 131 to 140 of about 64,543 (306)

Mitral and tricuspid valve repair in an operated case of complete atrioventricular septal defect: A surgical challenge case report!

SAGE Open Medical Case Reports
Atrioventricular canal defects constitute about 3%–5% of total congenital heart defects, with a prevalence of 0.3–0.4/1000 live births. Mitral valve defects are associated with atrioventricular canal (septal) defects in most cases.
Dhanesh Kumar, Amit Chandra, Naresh Trehan, Shital Prakash, Yatin Mehta, Manisha Mishra, Surinder Bazaz, Sanjeev Chandna   +7 more
doaj   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Innovation and the role of the cardiac morphologist [PDF]

, 2009
Aiello, VD, Anderson, RH, Jacobs, JP, Spicer, DE, Yoo, SJ   +4 more
core   +1 more source

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]

, 2015
Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu, Comai, Lucio, Dixon, Donald M, El-Ghazali, Ayea, Fishbein, Michael C, Jordan, Maria C, Park, Sun Young, Reddy, Sita, Roos, Kenneth P   +8 more
core  

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Fetal Instability and Resuscitative Management During Fetal Intervention: A Retrospective, Descriptive Analysis of 245 Fetal Cardiac and Spina Bifida Procedures

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The heterogeneity of fetal surgery has led to variability in the nature and frequency of fetal instability. Understanding these differences is critical for optimizing management. Methods We reviewed all fetal atrial septal interventions (FASI) and fetoscopic myelomeningocele (fMMC) repairs with fetal instability performed at our ...
Claire A. Naus, Betul Yilmaz Furtun, Jessian L. Munoz, Rebecca M. Johnson, Carolyn A. Altman, Michael A. Belfort, Luc Joyeux, Alice King, David G. Mann, Shaine Morris, Athar M. Qureshi, Magdalena Sanz Cortes, William E. Whitehead, Caitlin D. Sutton   +13 more
wiley   +1 more source

Sympatho‐Excitation in Pulmonary Hypertension: The Potential Role of Pulmonary Arterial Baroreceptors: An Acute Physiologic Intervention Study

Respirology, EarlyView.
Pulmonary arterial baroreceptors reflexively stimulate sympathetic nerve activity (SNA) in response to elevated pulmonary artery pressure and distension. In pulmonary hypertension patients, changes in muscle SNA were proportional to changes in pulmonary haemodynamics following nebulised iloprost.
Michael J. Plunkett, Ana L. C. Sayegh, Robert A. Lewis, Tanya J. McWilliams, Sasiharan Sithamparanathan, Julian F. R. Paton, James P. Fisher   +6 more
wiley   +1 more source