Results 71 to 80 of about 3,631,363 (269)

P3.4 PULSE WAVE REFLECTIONS AND THEIR DIURNAL CHANGES IN PATIENTS WITH MARFAN SYNDROME COMPARED TO HEALTHY CONTROLS

Artery Research, 2015
Introduction: Patients with Marfan syndrome may suffer from a variety of symptoms, including changes of the cardiovascular system. The aim of this study was to perform ambulatory 24 hour blood pressure and pulse wave measurements in a group of Marfan ...
Bernhard Hametner*, Matthias Hillebrand, Ghazaleh Nouri, Stephanie Parragh, Jelena Köster, Kai Mortensen, Achim Schwarz, Yskert von Kodolitsch, Siegfried Wassertheurer   +8 more
doaj   +1 more source

Decreased rotational flow and circumferential wall shear stress as early markers of descending aorta dilation in Marfan syndrome: a 4D flow CMR study

Journal of Cardiovascular Magnetic Resonance, 2019
BackgroundDiseases of the descending aorta have emerged as a clinical issue in Marfan syndrome following improvements in proximal aorta surgical treatment and the consequent increase in life expectancy.
A. Guala, G. Teixido-Tura, L. Dux-Santoy, C. Granato, A. Ruiz-Muñoz, F. Valente, L. Galian-Gay, L. Gutiérrez, T. González-Alujas, K. Johnson, O. Wieben, A. S. Avilés, A. Evangelista, J. Rodríguez-Palomares   +13 more
semanticscholar   +1 more source

Single‐Cell Profiling Identifies CLEC5A+ Macrophages as Key Drivers of Thoracic Aortic Aneurysm Via CCL5‐Mediated M1 Polarization

Journal of Clinical Laboratory Analysis, EarlyView.
Thoracic aortic aneurysm (TAA) is a life‐threatening cardiovascular disease with limited therapeutic options. Through single‐cell RNA sequencing of aortic tissues from healthy individuals and TAA patients (105,541 cells), we identified CLEC5A+macrophages as the predominant pathogenic cell population exhibiting the highest M1 polarization score. Machine
Xiangyu Li, Chunguang Guo, Mingyao Luo, Chang Shu   +3 more
wiley   +1 more source

Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos

Molecular Therapy, 2018
There are urgent demands for efficient treatment of heritable genetic diseases. The base editing technology has displayed its efficiency and precision in base substitution in human embryos, providing a potential early-stage treatment for genetic diseases.
Yanting Zeng, Jianan Li, Guanglei Li, Shisheng Huang, Wenxia Yu, Yu Zhang, Dunjin Chen, Jia Chen, Jian-Qiao Liu, Xingxu Huang   +9 more
semanticscholar   +1 more source

Marfan's syndrome and the heart [PDF]

Archives of Disease in Childhood, 2007
In recent years, there have been many advances in the treatment of cardiac disease in children with Marfan's syndrome. Early diagnosis, meticulous echocardiographic follow-up and multidisciplinary assessment are essential. Medical treatment with beta-blockers is probably helpful in most children with aortic root dilatation.
Alan Graham, Stuart, Andrew, Williams
openaire   +2 more sources

Molecular Functions and Drug Prediction of MMP1 and TGFBR2 in Nasopharyngeal Carcinoma

Journal of Clinical Laboratory Analysis, EarlyView.
MMP1 and TGFBR2 were validated by machine learning and external datasets as the candidate genes. Dexamethasone showed strong binding affinity to MMP1 (−7.72 kcal/mol) and TGFBR2 (−7.27 kcal/mol) in docking studies. Knockdown of MMP1 repressed the malignant phenotypes of NPC cells.
Feng Wang, Binbin Ge, Ming Li, Xiaochun Xia, Fuming Zhang, Pengqin Xu   +5 more
wiley   +1 more source

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Scientific Reports, 2021
Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities.
Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche   +19 more
doaj   +1 more source

The Marfan Syndrome

, 2017
Marfan syndrome is an autosomal dominant disorder of connective tissue in which abnormalities in the cardiovascular, skeletal, and ocular systems may be present to a highly variable degree. Marfan syndrome is caused by mutations in the FBN1 gene, which affect the structural integrity of the extracellular matrix and weaken the connective tissues ...
Franken, Romy, Mulder, Barbara J. M.
openaire   +1 more source

Study of Risk Factors and Image Findings of Isolated Abdominal Incidentally Detected Aortic Dissection

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 429-435, March/April 2025.
We detect the risk factors and image characteristics of incidentally detected IAAD. Independent risk factors of IAAD included fatty liver and smoking. In the ultrasound findings of IAAD, an intimal flap was frequently observed. In the CT scan, displacement of intimal calcifications was frequently observed. For suspected IAAD, the abdominal aorta should
Hiromasa Tsubouchi, Hidenori Onishi, Koji Maeno, Masaya Nakagaichi, Ikue Tsukushi, Youichi Kitano, Yoshitaka Makino, Hiroyuki Hayashi, Hidekazu Terasawa, Hiroko Kabuto, Toshihiro Misawa, Taku Sanada, Azusa Hisada, Kazuo Notsumata, Kazuhiro Okafuji, Osamu Yamamura   +15 more
wiley   +1 more source

Management of an elderly patient with nonsyndromic TGFBR1‐related aortopathy: A case report

Clinical Case Reports
Key Clinical Message Genetic variants associated with hereditary TAAD may contribute to nonsyndromic TAAD. We present the case of a 72‐year‐old man with nonsyndromic TAAD undergoing prophylactic surgery after a gene panel test revealed a pathogenic ...
Hitomi Aono‐Setoguchi, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Issei Komuro, Norihiko Takeda   +7 more
doaj   +1 more source