Results 61 to 70 of about 49,045 (265)

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

Transcatheter aortic valve-in-valve implantation of a CoreValve in a JenaValve prosthesis: a case report

Journal of Medical Case Reports, 2017
Background Transcatheter aortic valve implantation has become an accepted treatment modality for inoperable or high-risk surgical patients with symptomatic severe aortic stenosis.
Shahram Lotfi, Michael Becker, Ajay Moza, Rüdiger Autschbach, Nikolaus Marx, Jörg Schröder   +5 more
doaj   +1 more source

Two Reports of Quadricuspid Aortic Valve With Aortic Insufficiency

Reviews in Cardiovascular Medicine, 2017
We report two cases of a quadricuspid aortic valve with severe aortic incompetence. Both patients presented with dyspnea on exertion. Their physical examinations demonstrated wide pulse pressures with diastolic murmurs. Bedside transthoracic Doppler echocardiography revealed preserved left ventricular systolic function and possible quadricuspid aortic ...
Zahir, Satti, Abdalla, Ibrahim, Peter, Kelly   +2 more
openaire   +2 more sources

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Trans-apical aortic valve implantation for quadricuspid aortic valve with aortic regurgitation using J-valve system: a case reports

Journal of Cardiothoracic Surgery, 2021
Background Quadricuspid aortic valve (QAV) is a rare congenital heart defect usually accompanied with different hemodynamic abnormalities. Due to the rarity of QAV, treatment and prognosis of QAV patients with aortic regurgitation still remain ...
Chaodi Luo, Yi Jiang, Qiang Chen, Yang Yan, Dan Han   +4 more
doaj   +1 more source

Survival and repair durability in patients undergoing concomitant aortic valve reimplantation and mitral valve repairCentral MessagePerspective

JTCVS Techniques, 2023
Objective: The study objective was to determine repair durability and survival in patients with and without connective tissue disorders undergoing concomitant aortic valve reimplantation and mitral valve repair.
Daniel J.P. Burns, MD, MPhil, Jeevanantham Rajeswaran, PhD, Milind Y. Desai, MD, A. Marc Gillinov, MD, Kevin Hodges, MD, Eric E. Roselli, MD, Patrick R. Vargo, MD, Lars G. Svensson, MD, PhD   +7 more
doaj   +1 more source

Systolic ejection murmurs and the left ventricular outflow tract in boxer dogs [PDF]

, 2007
Turbulence of various genesis in the left ventricular outflow tract (LVOT) causes systolic ejection murmurs. The prevalence of murmurs in adult boxer dogs is 50-80%, the majority of which are of low intensity.
Höglund, Katja
core  

Spanish named entity recognition in the biomedical domain [PDF]

, 2018
Named Entity Recognition in the clinical domain and in languages different from English has the difficulty of the absence of complete dictionaries, the informality of texts, the polysemy of terms, the lack of accordance in the boundaries of an entity ...
Cotik, Viviana, Rodríguez Hontoria, Horacio, Vivaldi Palatresi, Jorge   +2 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Emergency Valve-in-Valve Transcatheter Aortic Valve Implantation for the Treatment of Acute Stentless Bioprosthetic Aortic Insufficiency and Cardiogenic Shock

Case Reports in Cardiology, 2018
Bioprosthetic aortic valve degeneration may present as acute, severe aortic regurgitation and cardiogenic shock. Such patients may be unsuitable for emergency valve replacement surgery due to excessive risk of operative mortality but could be treatable ...
Ivan D. Hanson, Pratik K. Dalal, Brian M. Renard, George S. Hanzel, Alessandro Vivacqua   +4 more
doaj   +1 more source