Results 101 to 110 of about 903,443 (352)

Echocardiographic evaluation of velocity ratio, velocity time integral ratio, and pulmonary valve area in dogs with pulmonary valve stenosis. [PDF]

, 2018
BackgroundVelocity ratio, velocity time integral (VTI) ratio, and pulmonary valve area indexed to body surface area (iPVA) are methods of assessment of pulmonary valve stenosis (PS) severity that are less dependent on blood flow. Studies evaluating these
Bélanger, Catherine, Gunther-Harrington, Catherine T, Nishimura, Satoko, Oldach, Maureen S, Stern, Joshua A, Visser, Lance C   +5 more
core   +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

Pattern of Cardiovascular Diseases Among Elderly Patients Admitted in Medical Wards at Muhimbili National Hospital Dar es salaam Tanzania [PDF]

, 2011
Cardiovascular disease is the most frequent cause of death in persons over the age 50 years and most importantly it is responsible for considerable morbidity and large burden of disability in the community. Cardiovascular diseases are an increasing cause
Kisenge, Peter Richard
core  

Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome) [PDF]

, 1992
Thirteen out of 268 children (
Borland, L, Carone, E, ChapChap, P, Esquivel, CO, Marino, IR, Rowe, MI, Starzl, TE, Todo, S, Tzakis, AG, Zetti, G   +9 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

Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report

Frontiers in Cardiovascular Medicine, 2014
Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements.
Michael eEssandoh, Karina eCastellon-Larios, Alix eZuleta-Alarcon, Juan Guillermo Portillo, Juan A Crestanello   +4 more
doaj   +1 more source

Numerical Modeling of Pulse Wave Propagation in a Stenosed Artery using Two-Way Coupled Fluid Structure Interaction (FSI)

, 2018
As the heart beats, it creates fluctuation in blood pressure leading to a pulse wave that propagates by displacing the arterial wall. These waves travel through the arterial tree and carry information about the medium that they propagate through as well ...
Gamage, Peshala P. T, Khalili, Fardin, Mansy, Hansen A   +2 more
core   +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

Identifying the Severity of Heart Valve Stenosis and Regurgitation Among a Diverse Population Within an Integrated Health Care System: Natural Language Processing Approach

JMIR Cardio
BackgroundValvular heart disease (VHD) is a leading cause of cardiovascular morbidity and mortality that poses a substantial health care and economic burden on health care systems.
Fagen Xie, Ming-sum Lee, Salam Allahwerdy, Darios Getahun, Benjamin Wessler, Wansu Chen   +5 more
doaj   +1 more source

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources