Results 111 to 120 of about 276,636 (306)
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 +4 more
wiley +1 more source
Commentary: Another tool in the toolbox for managing mitral annular calcificationCentral Message
JTCVS Techniques, 2022 Elizabeth L. Norton, MD, MS +1 more
doaj +1 more source
Surgical outcomes of heart valves replacement: A study of tertiary specialized cardiac center
ARYA Atherosclerosis, 2014 BACKGROUND: Heart valve disease is a significant and increasing global problem in the developing world. The aim of this study is to evaluate the incidence of postoperative complications and mortality in patients who underwent heart valve replacement ...
Niloufar Samiei +5 more
doaj
Risk factors for paravalvular leak after transcatheter aortic valve replacement [PDF]
, 2019 Objective. To assess risk factors for paravalvular leak (PVL) after transcatheter aortic valve implantation (TAVI) in a large single-center cohort, including measurement of aortic valve calcification using a reproducible method. Methods.
Pollari, Francesco
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Anti-Coagulation During Pregnancy in Women with Mechanical Heart Valves: A Prospective Study [PDF]
International Journal of Fertility and Sterility, 2011 Background Pregnancy is associated with a hypercoagulable state, therefore the optimal anticoagulants for potential use in pregnant women with prosthetic heart valves are controversial.
Amir Jamshid Khamoushi +4 more
doaj
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
SURGICAL TREATMENT INDICATIONS IN ACQUIRED MITRAL VALVULAR DISEASES
Eurasian Journal of Medicine, 2019 Surgery of mitral valve is performed as closed or open mitral commissurotomy, mitral valve repair surgery and mitral valve replacement. The purpose of mitral valve surgery is to relieve the symptoms unresponsive to medical therapy, to improve the quality
Necip Becit +2 more
doaj
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 +11 more
wiley +1 more source