Results 31 to 40 of about 1,134,764 (129)

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

Clinical, Cosmetic and Investigational Dermatology, 2023
Xiu-Jie Zhao,1 Chun-Yu Bai,2 Xiao-Yan Li,1 Lei Wang,2 Ren-Ping Wang,2 Yue Xia,1,2 Gang Liu,1 Hong-Liang Zhao,1,* Hong-Zun Xu2,* 1Department of Cardiology, The First Hospital of Hebei Medical University, Shijiazhuang, 050031, People’s Republic of ...
Zhao XJ, Bai CY, Li XY, Wang L, Wang RP, Xia Y, Liu G, Zhao HL, Xu HZ   +8 more
doaj  

Arrhythmogenic right ventricular cardiomyopathy

Journal of Arrhythmia, Volume 34, Issue 4, Page 356-368, August 2018., 2018
Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive cardiomyopathy characterized by fibrofatty infiltration of the myocardium, ventricular arrhythmias, sudden death, and heart failure. ARVC may be an important cause of syncope, sudden death, ventricular arrhythmias, and/or wall motion abnormalities, especially in the young.
Yongkeun Cho
wiley   +1 more source

A New Perspective on Intercalated Disc Organization: Implications for Heart Disease

Dermatology Research and Practice, Volume 2010, Issue 1, 2010., 2010
Adherens junctions and desmosomes are intercellular adhesive junctions and essential for the morphogenesis, differentiation, and maintenance of tissues that are subjected to high mechanical stress, including heart and skin. The different junction complexes are organized at the termini of the cardiomyocyte called the intercalated disc.
Jifen Li, Glenn L. Radice, Mỹ G. Mahoney   +2 more
wiley   +1 more source

PPARs, Cardiovascular Metabolism, and Function: Near‐ or Far‐from‐Equilibrium Pathways

PPAR Research, Volume 2010, Issue 1, 2010., 2010
Peroxisome proliferator‐activated receptors (PPAR α, β/δ and γ) play a key role in metabolic regulatory processes and gene regulation of cellular metabolism, particularly in the cardiovascular system. Moreover, PPARs have various extra metabolic roles, in circadian rhythms, inflammation and oxidative stress.
Yves Lecarpentier, Victor Claes, Jean-Louis Hébert, Brian Finck   +3 more
wiley   +1 more source

Radiofrequency ablation: mechanisms and clinical applications

MedComm, Volume 5, Issue 10, October 2024.
Radiofrequency ablation (RFA) is a type of thermal ablation that induces coagulation necrosis of tumors by raising temperatures above 60°C. However, compared with complete RFA, because the ablation area cannot completely cover the entire tumor, insufficient RFA (iRFA) can lead to rapid local tumor progression, metastasis, and even further malignant ...
Jianhua Wu, Zhiyuan Zhou, Yuanwen Huang, Xinyue Deng, Siting Zheng, Shangwen He, Genjie Huang, Binghui Hu, Min Shi, Wangjun Liao, Na Huang   +10 more
wiley   +1 more source

Cowden syndrome - Diagnostic skin signs [PDF]

, 2001
Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C., Hildenbrand, C., Lautenschlager, Stephan, S. Lautenschlager, C. Hildenbrand, W.H.C. Burgdorf   +5 more
core   +1 more source

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease [PDF]

, 2004
LEOPARD syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism.
Emanuela Conti, Anna Sarkozy, Sarkozy, Anna, Noralane M Lindor, Antonio Pizzuti, Conti, Emanuela, Pizzuti, Antonio, Lindor, Noralane M, Marineh Yagubyan, Jean M Panneton, Yagubyan, Marineh, Panneton, Jean M   +11 more
core   +1 more source

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

, 2018
British Journal of Dermatology, Volume 179, Issue 5, Page 1181-1183, November 2018.
V.K. Yenamandra, P.C. van den Akker, H.H. Lemmink, S.Z. Jan, G.F.H. Diercks, M. Vermeer, M.P. van den Berg, P. van der Meer, A.M.G. Pasmooij, R.J. Sinke, M.F. Jonkman, M.C. Bolling   +11 more
wiley   +1 more source

Patient with confirmed LEOPARD syndrome developing multiple melanoma

Dermatology Practical & Conceptual, 2018
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym
Colmant Caroline, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme   +6 more
doaj  

LMNA‐associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset [PDF]

American Journal of Medical Genetics Part A, 2013
AbstractHutchinson–Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24.
Megan S, Kane, Mark E, Lindsay, Daniel P, Judge, Jemima, Barrowman, Colette, Ap Rhys, Lisa, Simonson, Harry C, Dietz, Susan, Michaelis   +7 more
openaire   +2 more sources