Results 61 to 70 of about 2,203,451 (295)

Utility of deep learning networks for the generation of artificial cardiac magnetic resonance images in congenital heart disease

BMC Medical Imaging, 2020
Background Deep learning algorithms are increasingly used for automatic medical imaging analysis and cardiac chamber segmentation. Especially in congenital heart disease, obtaining a sufficient number of training images and data anonymity issues remain ...
Gerhard-Paul Diller, Julius Vahle, Robert Radke, Maria Luisa Benesch Vidal, Alicia Jeanette Fischer, Ulrike M. M. Bauer, Samir Sarikouch, Felix Berger, Philipp Beerbaum, Helmut Baumgartner, Stefan Orwat, for the German Competence Network for Congenital Heart Defects Investigators   +11 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Percutaneous Pacemaker Lead Implantation in Patients With Univentricular Circulation and Selected Patients With Biventricular Circulation: Intracavitary and Intramyocardial Approaches

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Epicardial pacemaker lead implantation in patients with univentricular circulation following total cavopulmonary connection with an extracardiac conduit and without fenestration necessitates median sternotomy.
Katarzyna Gendera, Christof Kolb, Jan Janoušek, Stanimir Georgiev, Kristina Borgmann, Paul Philipp Heinisch, Andreas Eicken, Peter Ewert, Dunja Renner   +8 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Trends in Nutritional Status and Dietary Behavior in School-Aged Children with Congenital Heart Defects

Children
Background: Malnutrition and poor weight gain has been reported in infants with congenital heart defects (CHDs); however data in older children with CHDs are limited. In order to obtain representative data on the nutritional status, dietary behavior, and
Dominik Tobias, Paul Christian Helm, Ulrike Maria Margarethe Bauer, Claudia Niessner, Sigrid Hahn, Jannos Siaplaouras, Christian Apitz   +6 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Heart transplantation outcomes in patients with Fontan circulation: Updated systematic review and meta-analysisCentral MessagePerspective

JTCVS Open
Objective: A subset of patients with Fontan circulation develops progressive circulatory failure requiring advanced therapies such as heart transplantation. We performed an updated systematic review and meta-analysis to evaluate survival and complication
Andrey Semyashkin, MD, Alina Sandica, MD, Stephan Schubert, MD, Stephan Molatta, MD, Leonid Gherta, MD, Lotfi Ben Mime, MD   +5 more
doaj   +1 more source

Prenatally Diagnosed Isolated Coronary Arterial Fistula Leading to Severe Complications at Birth

Case Reports in Cardiology, 2018
Prenatal diagnosis of a huge coronary artery fistula between the left coronary artery and the right ventricle was made by Doppler echocardiography at 22 weeks of gestation. Progression of the dilated fistula was monitored throughout pregnancy.
A. Wacker-Gussmann, T. Esser, S. M. Lobmaier, M. O. Vogt, E. Ostermayer, R. Oberhoffer   +5 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source