Results 161 to 170 of about 89,308 (311)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

How Heart Valves Evolve to Adapt to an Extreme-Pressure System:Morphologic and Biomechanical Properties of Giraffe Heart Valves

, 2017
BACKGROUND: Heart valves which exist naturally in an extreme-pressure system must have evolved in a way to resist the stresses of high pressure. Giraffes are interesting as they naturally have a blood pressure twice that of humans.
Carl Andelius, Ted, Wang, Tobias, Baandrup, Ulrik, Toft Brøndum, Emil, Michael Hasenkam, J, Amstrup Funder, Jonas, Christian Danielsen, Carl, Martin Bibby, Bo   +7 more
core  

Polymeric Transcatheter Heart Valves: Are We Entering the Next Era of TAVR Durability? [PDF]

JACC Asia
Shirai S, Hayashi M, Ishizu K.
europepmc   +1 more source

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

Evaluating the impact of Lutetium-177 therapy on bioprosthetic heart valves in carcinoid heart disease. [PDF]

Cardiooncology
Scalia IG, Abdelfattah FE, Farina JM, Ibrahim OH, Awad K, Crestanello JA, Schaff HV, Halfdanarson TR, Ray JC, Pellikka PA, Connolly HM, Arsanjani R, Ayoub C.   +12 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Surface Markings of Heart and Auscultation of Heart Valves (Labeled)

Surface markings of heart and auscultation of heart ...
Royal College of Surgeons of Ireland (RCSI)
core  

Effective Recellularization Using Mesenchymal Stem Cell Monoculture for Next-Generation Heart Valves. [PDF]

Bioengineering (Basel)
Kim SY, Yoon JK, Kim S, Ko S, Shin Y, Kim GB, Lim HG, Kim YJ.   +7 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Enzyme-responsive hydrogel coating for <i>in situ</i> re-endothelialization of bioprosthetic heart valves. [PDF]

Theranostics
Liang X, Tong Q, Bei Z, Luo T, Ye L, Pan M, Yang Y, Chu B, Qian Y, Qian Z.   +9 more
europepmc   +1 more source