Results 121 to 130 of about 313,532 (310)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Case Report: Incidental finding of an atresia of the inferior vena cava—a challenge for cardiac surgery

Frontiers in Cardiovascular Medicine
Inferior vena cava atresia is a rare and usually asymptomatic condition. However, when these patients undergo cardiac surgery, it can present an unexpected and challenging situation for the surgeon.
Joscha Buech, Joscha Buech, Joscha Buech, Caroline Radner, Caroline Radner, Caroline Radner, Thomas Fabry, Thomas Fabry, Simon Rutkowski, Simon Rutkowski, Christian Hagl, Christian Hagl, Christian Hagl, Sven Peterss, Sven Peterss, Maximilian A. Pichlmaier, Maximilian A. Pichlmaier   +16 more
doaj   +1 more source

Three dimensional rotational angiography imaging of double aortic arch vascular ring [PDF]

, 2013
Three dimensional (3D) rotational angiography is a technique used increasingly for imaging in congenital heart disease. Here the use of this technique for imaging of double aortic arch vascular ring is described and the advantages of this modality. are
Coren, J. S., Coyle, J. C., Ge, Shuping, Mesia, Cesar I., Moulick, Achintya, Patel, Brijesh, Poe, E., Rosenbloom, C., Stevens, R. M., Toib, A.   +9 more
core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Accuracy of the HeartMate 3 Left Ventricular Assist Device Flow Estimation

Scientific Reports
Left ventricular assist devices (LVADs), such as the HeartMate 3 (HM3), are a treatment option for advanced heart failure (HF). Non-invasive monitoring of heart-pump interaction is crucial but relies on estimated parameters only.
Theodor Abart, Marko Grujic, Philipp Aigner, Michael Röhrich, Stefan Jakubek, Daniel Zimpfer, Marcus Granegger   +6 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Impact of adjustable resistance clamps on the in-vitro hemolysis assessment of blood pumps

Scientific Reports
Adjustable resistance clamps are essential to regulate flow and pressure in in-vitro test loops designed to evaluate hemolysis in blood pumps. However, their contribution to overall hemolysis remains unclear.
Krishnaraj Narayanaswamy, Xiangyu He, Leonie Schmitt, Martin Stoiber, Michael Röhrich, Daniel Zimpfer, Marcus Granegger   +6 more
doaj   +1 more source

INFLUENCE OF CARDIOVASCULAR RISK FACTORS ON AORTIC WALL MOTION AFTER REPAIR OF TYPE A AORTIC DISSECTION: AN ECG-GATED CT STUDY [PDF]

, 2012
OBJECTIVES: To evaluate aortic shape changes during cardiac cycle with dynamic computed tomographic angiography at important thoracic aorta anatomic landmarks in patients who previously underwent ascending aorta repair because of type A dissection, and ...
CROCCIA, MARIAGRAZIA
core  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source