Results 321 to 330 of about 2,650,139 (381)

Studies on the platelet function and coagulofibrinolytic system in patients with artificial heart valve

, 1977
Eizo Kakishita, Sanae Yoshimura, Terumasa Higashi, Kiyoyasu Nagai, Takashe MIYAMOTO, M Nasu   +5 more
openalex   +2 more sources

Sickle Cell Diastolic Cardiomyopathy and Mortality Risk: A Novel Echocardiographic Framework for Prognostic Stratification

American Journal of Hematology, EarlyView.
ABSTRACT Cardiovascular complications are the leading cause of mortality in sickle cell anemia (SCA) patients. While extensive data have identified diastolic dysfunction (DD) to increase morbidity and mortality, the unique hemodynamic conditions inherent to SCA challenge the current recommendations to assess diastolic function. Thus, there is an urgent
Théo Simon, Laurent Savale, Kristoffer Grundtvig Skaarup, Paul Breillat, Luu‐Ly Pham, Seyed‐Mehdi Nouraie, Niklas Dyrby Johansen, Jocelyn Inamo, Francois Lionnet, Gylna Loko, Christelle Chantalat, Anne Laure Pham Hung d’Alexandry d’Orengiani, Anoosha Habibi, Gonzalo de Luna, Sihem Iles, Frédéric Galactéros, Etienne Audureau, Tor Biering‐Sørensen, Pablo Bartolucci, Geneviève Derumeaux, Thomas d’Humières   +20 more
wiley   +1 more source

Outcome and safety comparison of low-molecular-weight heparin versus unfractionated heparin for bridging anticoagulation in individuals with mechanical heart valves undergoing non-cardiac surgery: A systematic review and meta-analysis. [PDF]

Narra J
Bhargah A, Narayana GS, Maliawan RP, Wirawan H, Darma IK, Artha IM, Manuaba IB.   +6 more
europepmc   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

In Vitro Comparison of a Closed and Semi-closed Leaflet Design for Adult and Pediatric Transcatheter Heart Valves. [PDF]

Ann Biomed Eng
Breitenstein-Attach A, Steitz M, Sun X, Hao Y, Kiekenap J, Emeis J, Tuladhar SR, Berger F, Schmitt B.   +8 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Bayesian Optimization-Based Inverse Finite Element Analysis for Atrioventricular Heart Valves. [PDF]

Ann Biomed Eng
Ross CJ, Laurence DW, Aggarwal A, Hsu MC, Mir A, Burkhart HM, Lee CH.   +6 more
europepmc   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Faulty heart valves.

BMJ, 1990
openaire   +4 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source