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Marfan syndrome

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https://www.readbyqxmd.com/read/29040313/premature-aortic-smooth-muscle-cell-differentiation-contributes-to-matrix-dysregulation-in-marfan-syndrome
#1
Matthew Dale, Matthew P Fitzgerald, Zhibo Liu, Trevor Meisinger, Andrew Karpisek, Laura N Purcell, Jeffrey S Carson, Paul Harding, Haili Lang, Panagiotis Koutakis, Rishi Batra, Constance J Mietus, George Casale, Iraklis Pipinos, B Timothy Baxter, Wanfen Xiong
Thoracic aortic aneurysm and dissection are life-threatening complications of Marfan syndrome (MFS). Studies of human and mouse aortic samples from late stage MFS demonstrate increased TGF-β activation/signaling and diffuse matrix changes. However, the role of the aortic smooth muscle cell (SMC) phenotype in early aneurysm formation in MFS has yet to be fully elucidated. As our objective, we investigated whether an altered aortic SMC phenotype plays a role in aneurysm formation in MFS. We describe previously unrecognized concordant findings in the aortas of a murine model of MFS, mgR, during a critical and dynamic phase of early development...
2017: PloS One
https://www.readbyqxmd.com/read/29034043/suture-line-dehiscence-after-endovascular-aneurysm-repair-in-a-patient-with-marfan-syndrome
#2
Hirofumi Kasahara, Norimasa Haijima, Takashi Hachiya
A 68-year-old man with Marfan syndrome developed de-novo leakage after endovascular aneurysm repair of a Dacron graft. Findings at subsequent reoperation suggested that the rebound force on the endograft generated by marked longitudinal deformation in the Dacron graft may have placed stress on the suture line, leading to partial dehiscence. The Dacron graft seemed to provide a stable proximal landing zone. However, the strong tendency of some endograft devices to return to their original shape may apply stress that affected weakened regions of the native aorta...
June 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29034037/characteristics-of-abdominal-aortic-aneurysm-in-japanese-patients-aged-50-years-or-younger
#3
Mitsunori Nakano, Naoyuki Kimura, Harunobu Matsumoto, Tomoyasu Hirano, Koichi Adachi, Koichi Yuri, Atsushi Yamaguchi, Hideo Adachi
Objective: We investigated the characteristics and surgical outcomes of abdominal aortic aneurysm (AAA), which typically occurs in elderly persons, in Japanese patients aged 50 years or younger. Materials and Methods: Clinical records of 999 patients who underwent open or endovascular repair for AAA at our hospital between 2007 and 2015 were reviewed to identify the clinical characteristics and surgical outcomes of young patients with AAA. The cohort included 14 patients aged 50 years or younger (mean, 40.4 years; young group) and 985 patients aged older than 50 years (mean, 72...
June 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29030048/increased-prevalence-of-cerebrovascular-disease-in-hospitalized-patients-with-marfan-syndrome
#4
Sarasa T Kim, Harry Cloft, Kelly D Flemming, David F Kallmes, Giuseppe Lanzino, Waleed Brinjikji
BACKGROUND AND PURPOSE: Small studies have suggested that Marfan syndrome is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of Marfan syndrome is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). METHODS: Using the 2000-2012 NIS, we performed a case-control study matching cases of Marfan syndrome to controls without such a diagnosis...
October 10, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29027271/surgical-treatment-of-coronary-artery-aneurysms
#5
Erik Beckmann, Saad Rustum, Steffen Marquardt, Constanze Merz, Malakh Shrestha, Andreas Martens, Axel Haverich, Issam Ismail
INTRODUCTION: Coronary artery aneurysms (CAA) are rare. We present our experience with the surgical treatment of patients with CAAs. METHODS: Between March 2000 and October 2016, 15 patients with CAA underwent surgery. RESULTS: Mean age of patients was 60 ± 16 years and 47% (n = 7) were male. Kawasaki syndrome was present in two (13%) patients and 7% (n = 1) patients had Marfan syndrome. Isolated CAAs were found in 73% (n = 11) and involvement of multiple vessels was present in 27% (n = 4) of patients...
October 13, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29022822/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#6
A Harky, M Garner, N Roberts
Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative...
February 13, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/29020253/aneurysmal-left-sinus-of-valsalva-in-marfan-s-syndrome
#7
Mohammed A Chamsi-Pasha, Gerald M Lawrie
No abstract text is available yet for this article.
July 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28993736/pathogenic-mechanisms-of-bicuspid-aortic-valve-aortopathy
#8
REVIEW
Noor M Yassine, Jasmine T Shahram, Simon C Body
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28985825/childhood-glaucoma-in-neonatal-marfan-syndrome-resulting-from-a-novel-fbn1-deletion
#9
Samir Nazarali, Safia A Nazarali, Angela Antoniuk, Mark Greve, Karim F Damji
No abstract text is available yet for this article.
October 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28980096/isolated-aortic-root-dilation-in-homocystinuria
#10
Massimiliano Lorenzini, Nishan Guha, James E Davison, Alex Pitcher, Bejal Pandya, Helena Kemp, Robin Lachmann, Perry M Elliott, Elaine Murphy
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta. METHODS: We conducted a cross-sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z-score ≥ 2.0 SD, and graded mild (Z-score 2.0-3.0), moderate (Z-score 3.01-4.0) and severe (Z-score > 4...
October 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28973303/fbn1-mutations-largely-contribute-to-sporadic-non-syndromic-aortic-dissection
#11
Lun Tan, Zongze Li, Chengming Zhou, Yanyan Cao, Lina Zhang, Xianqing Li, Katherine Cianflone, Yan Wang, Dao Wen Wang
Mutations in FBN1 have been well identified in syndromic aortic dissection (AD) and familial thoracic aortic aneurysms and dissections. However, whether mutations of FBN1 contribute to sporadic non-syndromic AD and the characteristics of mutations remain unknown.Using next-generation-sequencing technology, FBN1 was sequenced in a total of 702 sporadic cases (including 687 of non-syndromic AD and 15 of sporadic Marfan syndrome (MFS) with aortic event, and 527 normal controls). For the sporadic non-syndromic AD cohort, we found 26 variants in 27 patients (18 with missense, 2 frameshift, 1 initiation codon mutation, 3 nonsense, and 3 splice site mutations)...
September 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969850/reimplantation-for-marfan-syndrome-if-it-ain-t-broke%C3%A2
#12
EDITORIAL
Maral Ouzounian, Jagdish Butany, Tirone E David
No abstract text is available yet for this article.
September 5, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28955701/sequential-hybrid-repair-of-aorta-and-bilateral-common-iliac-arteries-secondary-to-chronic-aortic-dissection-with-extensive-aneurysmal-degeneration-in-a-marfan-patient
#13
Carlos A Hinojosa, Javier E Anaya-Ayala, Hugo Laparra-Escareno, Rene Lizola, Adriana Torres-Machorro
Marfan syndrome is a connective tissue disorder associated with aortic dissection, aneurysmal degeneration and rupture. These cardiovascular complications represent the main cause of mortality, therefore repair is indicated. We present a 35-year-old woman who experienced acute onset of chest pain. Her imaging revealed a chronic DeBakey type I dissection with aortic root dilation and descending thoracic aneurysmal degeneration. She underwent a Bentall procedure and endovascular exclusion of the descending thoracic aortic aneurysm...
September 2017: Vascular Specialist International
https://www.readbyqxmd.com/read/28955598/dental-findings-in-marfan-syndrome-a-case-report
#14
Busra Bostanci, Emre Korkut, Nımet Unlu
Marfan syndrome is an autosomal dominant disorder of connective tissue primarily characterized with anomalies affecting the musculoskeletal system, the cardiovascular system and the eyes. It has been suggested that early diagnosis of the syndrome is important, because of the risk of infective endocarditis. A 7-year-old female was referred to our clinic, with a chief complaint of dental crowding in the anterior region of mandible. It was observed that the patient needed multiple treatments based on detailed clinical and radiographic examinations...
2017: J Istanb Univ Fac Dent
https://www.readbyqxmd.com/read/28947563/cardiovascular-benefits-of-moderate-exercise-training-in-marfan-syndrome-insights-from-an-animal-model
#15
Aleksandra Mas-Stachurska, Anna-Maria Siegert, Monsterrat Batlle, Darya Gorbenko Del Blanco, Thayna Meirelles, Cira Rubies, Fabio Bonorino, Carla Serra-Peinado, Bart Bijnens, Julio Baudin, Marta Sitges, Lluís Mont, Eduard Guasch, Gustavo Egea
BACKGROUND: Marfan syndrome (MF) leads to aortic root dilatation and a predisposition to aortic dissection, mitral valve prolapse, and primary and secondary cardiomyopathy. Overall, regular physical exercise is recommended for a healthy lifestyle, but dynamic sports are strongly discouraged in MF patients. Nonetheless, evidence supporting this recommendation is lacking. Therefore, we studied the role of long-term dynamic exercise of moderate intensity on the MF cardiovascular phenotype...
September 25, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#16
Ying Xiao, Xiaoqi Liu, Xiaoxin Guo, Liping Liu, Linxin Jiang, Qi Wang, Bo Gong
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects...
September 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28944086/development-of-spinal-deformities-in-the-tight-skin-mouse
#17
Bing Li, Jill Pg Urban, Jing Yu
Tight-skin (TSK) mice are commonly used as an animal model to study the pathogenesis of Marfan syndrome (MFS), but little is known of their skeletal phenotype and in particular of the development of the spinal deformities, common in MFS. Here we examined growth of the axial skeletons of TSK and wild-type(B6) mice during their period of rapid growth. The whole bodies of mice, 4-12 weeks of age, were scanned after sacrifice, by micro-computed tomography (microCT). We reconstructed three-dimensional models of the spine and ribs, and measured vertebral body heights and rib lengths using the Mac-based image-processing software "OsiriX"...
2017: Bone Research
https://www.readbyqxmd.com/read/28941062/a-cohort-study-of-multiple-families-with-fbn1-p-r650c-variant-ectopia-lentis-and-low-but-not-absent-risk-for-aortopathy
#18
Lohith Vatti, Sara M Fitzgerald-Butt, Kim L McBride
Marfan syndrome is a multisystem disease with cardiovascular, ophthalmologic, and skeletal features. Diagnosis is made clinically with emphasis on presence of aortic root dilation and ectopia lentis (EL). Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2-78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28932286/pilot-report-non-operative-treatment-of-mayo-type-ii-olecranon-fractures-in-any-age-adult-patient
#19
Matthew D Putnam, Christy M Christophersen, Julie E Adams
BACKGROUND: We report on the non-operative treatment of Mayo Type II olecranon fractures. METHODS: Fourteen isolated Mayo Type II olecranon fractures were treated non-operatively, followed to discharge, and retrospectively reviewed. Treatment was splinting in extension followed by protected active motion beginning 3 weeks to 4 weeks post-injury. Mayo Elbow Performance Index (MEPI) and Shortened Disabilities of the Arm, Shoulder and Hand (QuickDASH) scores were available in 86% and 64% of cases, respectively...
October 2017: Shoulder & Elbow
https://www.readbyqxmd.com/read/28931232/marfan-s-syndrome-treatment-without-surgery
#20
Mark Nicholls
No abstract text is available yet for this article.
March 21, 2017: European Heart Journal
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