Results 51 to 60 of about 2,210,543 (259)

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

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection

Molecular Genetics & Genomic Medicine, 2019
Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin‐1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype–phenotype and aortic events (aortic ...
Shijun Xu, Lei Li, Yuwei Fu, Xin Wang, Hairui Sun, Jianbing Wang, Lu Han, Zining Wu, Yong-min Liu, Junming Zhu, Li-Zhong Sun, F. Lan, Yihua He, Hongjia Zhang   +13 more
semanticscholar   +1 more source

Aortic Function in a Longitudinal 4D Flow MRI Study in Marfan Syndrome Patients Receiving Resveratrol

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background New treatment strategies are required to reduce aortic events in Marfan syndrome (MFS). Resveratrol is a dietary supplement that intervenes in aortic wall cellular metabolism and may benefit MFS patients. Purpose To evaluate whether treatment with Resveratrol affects aorta hemodynamics derived from 4D flow MRI in MFS.
Daan Bosshardt, Mitzi M. van Andel, E. M. Schrauben, Roland R. J. van Kimmenade, Arthur J. Scholte, Moniek G. J. P. Cox, Daniëlle Robbers‐Visser, Aeilko H. Zwinderman, Barbara J. M. Mulder, Aart J. Nederveen, Vivian de Waard, Maarten Groenink, Pim van Ooij   +12 more
wiley   +1 more source

Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. [PDF]

PLoS ONE, 2011
Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and dissection are the major determinants of premature death in untreated patients.
Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch, Roland Hetzer, Peter N Robinson   +6 more
doaj   +1 more source

Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs

European Journal of Pediatrics, 2019
Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation ...
Jessica Warnink-Kavelaars, A. Beelen, T. Goedhart, Lisanne E de Koning, F. Nollet, M. Alsem, L. Menke, R. Engelbert   +7 more
semanticscholar   +1 more source

Hereditary hypofibrinogenemia: A rare cause of chronic liver disease

JPGN Reports, EarlyView.
Abstract Hypofibrinogenemia is characterized by low levels of fibrinogen with patients commonly presenting asymptomatically. This report discusses a case of hereditary hypofibrinogenemia manifesting as chronic liver disease in a 2‐year‐old male who was evaluated for elevated liver enzymes and skin/soft tissue bleeding.
Hannah Caringal, Nolan Maloney, Khyati Mehta, Akshat Jain, Kalyan Parashette   +4 more
wiley   +1 more source

Visual outcome and surgical results in children with Marfan syndrome

Clinical and Experimental Ophthalmology, 2019
To determine visual and surgical results in children with Marfan syndrome.
Sandra Rezar-Dreindl, E. Stifter, T. Neumayer, A. Papp, A. Gschliesser, U. Schmidt-Erfurth   +5 more
semanticscholar   +1 more source

Marfan Syndrome: A Case Report

Case Reports in Dentistry, 2012
Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1.
Rajendran Ganesh, Rajendran Vijayakumar, Haridoss Selvakumar   +2 more
doaj   +1 more source

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

Journal of Clinical Medicine, 2019
Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes.
K. Mühlstädt, J. De Backer, Y. von Kodolitsch, K. Kutsche, L. Muiño Mosquera, J. Brickwedel, E. Girdauskas, T. Mir, A. Mahlmann, N. Tsilimparis, A. Staebler, Lauritz Schoof, H. Seidel, J. Berger, A. Bernhardt, S. Blankenberg, T. Kölbel, C. Detter, K. Szöcs, H. Kaemmerer   +19 more
semanticscholar   +1 more source

Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes

Annals of Human Genetics, EarlyView.
ABSTRACT Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic testing confined to a few single drug–gene associations.
John Henry McDermott, Videha Sharma, Jessica Keen, William Gerard Newman   +3 more
wiley   +1 more source