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Marfans syndrome

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https://www.readbyqxmd.com/read/28410640/florida-sleeve-procedure-is-durable-and-improves-aortic-valve-function-in-marfan-syndrome-patients
#1
Seyed Hossein Aalaei-Andabili, Tomas Martin, Philip Hess, Charles Klodell, Ashkan Karimi, George Arnaoutakis, Teng Lee, Thomas Beaver
BACKGROUND: The Florida sleeve (FS) procedure was developed as a simplified approach for repair of functional type I aortic insufficiency secondary to aortic root aneurysm. We evaluated postoperative aortic valve function, long-term survival, and freedom from reoperation in Marfan syndrome patients who underwent the FS procedure at our center. METHODS: All Marfan syndrome patients undergoing FS procedure from May 2002 to December 2014 were included. Echocardiography assessment included left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), ejection fraction, and degree of aortic insufficiency (none = 0, minimal = 1, mild = 2, moderate = 3, severe = 4)...
April 12, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28395026/the-structural-role-of-elastic-fibers-in-the-cornea-investigated-using-a-mouse-model-for-marfan-syndrome
#2
Tomas L White, Philip Lewis, Sally Hayes, James Fergusson, James Bell, Luis Farinha, Nick S White, Lygia V Pereira, Keith M Meek
Purpose: The presence of fibrillin-rich elastic fibers in the cornea has been overlooked in recent years. The aim of the current study was to elucidate their functional role using a mouse model for Marfan syndrome, defective in fibrillin-1, the major structural component of the microfibril bundles that constitute most of the elastic fibers. Methods: Mouse corneas were obtained from animals with a heterozygous fibrillin-1 mutation (Fbn1+/-) and compared to wild type controls...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28394649/adamtsl4-assessment-in-ectopia-lentis-reveals-a-recurrent-founder-mutation-in-polynesians
#3
Katherine A van Bysterveldt, Rasha Al Taie, Will Ikink, Verity F Oliver, Andrea L Vincent
BACKGROUND: To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. MATERIALS AND METHODS: Subjects underwent comprehensive ophthalmic examination, including keratometry. Mutational analysis of ADAMTSL4 and P3H2 was undertaken using PCR, high resolution melting analysis, and sequencing...
April 10, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28392101/surgical-and-endovascular-treatments-of-extracranial-carotid-artery-aneurysms-report-of-six-cases
#4
Shusuke Yamamoto, Naoki Akioka, Daina Kashiwazaki, Masaki Koh, Naoya Kuwayama, Satoshi Kuroda
BACKGROUND: Although the natural course of extracranial carotid artery aneurysms (ECAAs) is still unknown, they may cause stroke or cranial nerve dysfunction unless they are treated. In this report, we reviewed the clinical results of 6 patients who underwent endovascular and surgical treatments for ECAAs. METHODS: A total of 6 patients underwent endovascular and surgical treatments for ECAAs for 9 years. The primary causes of ECAAs included Marfan syndrome (1 patient), infection (1 patient), trauma (2 patients), and unknown (2 patients)...
April 6, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28387611/thoracic-endovascular-aortic-repair-with-single-double-chimney-technique-for-aortic-arch-pathologies
#5
Tun Wang, Chang Shu, Ming Li, Quan-Ming Li, Xin Li, Jian Qiu, Kun Fang, Alan Dardik, Chen-Zi Yang
PURPOSE: To summarize a single-center experience using the single/double chimney technique in association with thoracic endovascular aortic repairs (TEVAR) for aortic arch pathologies. METHODS: From November 2007 to March 2016, 122 patients (mean age 50.4±12.7 years, range 29-80; 92 men) with aortic arch pathologies underwent TEVAR combined with single (n=101) or double (n=21) chimney grafts to reconstruct the supra-aortic branches: 21 innominate arteries, 114 left common carotid arteries, and 8 left subclavian arteries (LSA)...
March 1, 2017: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/28385916/mild-aerobic-exercise-blocks-elastin-fiber-fragmentation-and-aortic-dilatation-in-a-mouse-model-of-marfan-syndrome-associated-aortic-aneurysm
#6
Christine P Gibson, Cory Nielsen, Ramona Alex, Kimbal Cooper, Michael Farney, Douglas Gaufin, Jason Z Cui, Cornelis van Breemen, Tom L Broderick, Johana Vallejo-Elias, Mitra Esfandiarei
Regular low impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above-average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (wheel-cage) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome...
April 6, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28383843/-marfan-syndrome-in-childhood-and-adolescence
#7
S Magotteaux, S Bulk, N Farhat, N Sakalihasan, J-O Defraigne, M-Ch Seghaye
The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ocular and cardiovascular systems. The expression of the Marfan syndrome varies from the severe neonatal presentation to the classical manifestations of the child and young adult, but also comprises isolated features. In children, phenotypical manifestations are age dependent...
July 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28371362/pregnancy-related-acute-aortic-dissection-in-marfan-syndrome-a-review-of-the-literature
#8
REVIEW
Katherine Smith, Bernard Gros
A well-established association exists between acute aortic dissection and pregnancy, particularly in women with Marfan syndrome. However, there is debate regarding appropriate management guidelines. In particular, there are differing opinions regarding when prophylactic aortic root repair should be recommended as well as the efficacy of beta blockers in this clinical scenario. The current study evaluated 10 years of published literature (2005-2015) in the PubMed/Medline database. Fifty articles, describing 72 cases of women who presented with aortic dissection in the antepartum or postpartum period were identified...
April 2, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28355763/-late-reoperations-after-repaired-stanford-type-a-aortic-dissection
#9
F H Huang, L P Li, C H Su, W Qin, M Xu, L M Wang, Y S Jiang, Z B Qiu, L Q Xiao, C Zhang, H W Shi, X Chen
Objective: To summarize the experience of reoperations on patients who had late complications related to previous aortic surgery for Stanford type A dissection. Methods: From August 2008 to October 2016, 14 patients (10 male and 4 female patients) who underwent previous cardiac surgery for Stanford type A aortic dissection accepted reoperations on the late complications at Department of Thoracic and Cardiovascular Surgery, Nanjing Hospital Affiliated to Nanjing Medical University. The range of age was from 41 to 76 years, the mean age was (57±12) years...
April 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28350559/interventional-spine-considerations-for-dural-ectasia-in-a-patient-with-marfan-syndrome
#10
David J Kohns
For patients with Marfan syndrome who present with radicular low back pain, interventional spine providers should be familiar with dural ectasia with variable diffuse thinning of the posterior wall of the lumbar spine and sacrum. Providers should carefully weigh the risks and benefits of offering elective procedures because altered anatomy may put these patients at higher risk of dural puncture. Patient selection is essential because hydrostatic pressures and/or neural tension should also be considered as potential pain generators that may not be relieved by steroid injections...
March 27, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28348036/tgf-%C3%AE-signaling-in-control-of-cardiovascular-function
#11
Marie-José Goumans, Peter Ten Dijke
Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular syndromes, including Osler-Rendu-Weber disease or hereditary hemorrhagic telangiectasia and Marfan syndrome. Disturbed TGF-β signaling can also cause nonhereditary disorders like atherosclerosis and cardiac fibrosis. Accordingly, cell culture studies using endothelial cells or smooth muscle cells (SMCs), cultured alone or together in two- or three-dimensional cell culture assays, on plastic or embedded in matrix, have shown that TGF-β has a pivotal effect on endothelial and SMC proliferation, differentiation, migration, tube formation, and sprouting...
March 27, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28347539/a-novel-murine-model-of-marfan-syndrome-accelerates-aortopathy-and-cardiomyopathy
#12
Nicholas B Cavanaugh, Lan Qian, Nicole M Westergaard, William J Kutschke, Ella J Born, Joseph W Turek
BACKGROUND: Marfan syndrome (MFS) represents a genetic disorder with variable phenotypic expression. The main cardiovascular sequelae of MFS include aortic aneurysm/dissection and cardiomyopathy. Although significant advances in the understanding of transforming growth factor beta signaling have led to promising therapeutic targets for the treatment of aortopathy, clinical studies have tempered this optimism. In particular, these studies suggest additional signaling pathways that play a significant role in disease progression...
March 24, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28345421/clinical-features-and-prognosis-of-patients-with-acute-aortic-dissection-in-china
#13
Lujing Zhao, Yanfen Chai, Zhigang Li
Objective To evaluate the clinical features, risk factors, and prognostic significance of different Stanford types of acute aortic dissection (AAD). Methods We retrospectively analyzed the clinical data and prognostic predictors in 105 patients with AAD (37 with Stanford type A and 68 with Stanford type B) at Tianjin Medical University General Hospital and Tianjin 4th Central Hospital from January 2014 to November 2015. Results Patients with Marfan syndrome and bicuspid aortic valve constituted 24.3% and 8...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28338994/marfan-syndrome-staging-nonsurgical-vs-surgical-treatments-in-children-with-subluxated-lenses-and-refractive-problems
#14
R V Paul Chan, Arif O Khan, Alex V Levin, Evelyn A Paysse, Patrick A DeRespinis
No abstract text is available yet for this article.
March 1, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#15
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28330578/necrotizing-sialometaplasia-of-the-parotid-gland-associated-with-facial-nerve-paralysis
#16
P Haen, L Ben Slama, P Goudot, T Schouman
INTRODUCTION: Necrotizing sialometaplasia is a benign inflammatory lesion involving most frequently the minor salivary gland of the hard palate. Involvement of the parotid gland is rare, involvement of the parotid gland associated with facial palsy is exceptional. CASE REPORT: A 56-year-old male patient with Marfan syndrome presented with swelling and inflammation of the left parotid gland associated with progressively complete facial nerve paralysis. CT scan and MRI showed a parotid collection with hyper signal of the nearest tissues associated with erosion of the styloid process...
February 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28327193/longitudinal-evaluation-of-aortic-hemodynamics-in-marfan-syndrome-new-insights-from-a-4d-flow-cardiovascular-magnetic-resonance-multi-year-follow-up-study
#17
Julia Geiger, Daniel Hirtler, Kristina Gottfried, Ozair Rahman, Emilie Bollache, Alex J Barker, Michael Markl, Brigitte Stiller
BACKGROUND: The aim of this 4D flow cardiovascular magnetic resonance (CMR) follow-up study was to investigate longitudinal changes in aortic hemodynamics in adolescent patients with Marfan syndrome (MFS). METHODS: 4D flow CMR for the assessment of in-vivo 3D blood flow with full coverage of the thoracic aorta was performed twice (baseline scan t1/follow-up scan t2) in 19 adolescent MFS patients (age at t1: 12.7 ± 3.6 years, t2: 16.2 ± 4.3 years) with a mean follow-up duration of 3...
March 22, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28327138/accuracy-of-pedicle-screw-placement-in-patients-with-marfan-syndrome
#18
Jun Qiao, Feng Zhu, Leilei Xu, Zhen Liu, Xu Sun, Bangping Qian, Qing Jiang, Zezhang Zhu, Yong Qiu
BACKGROUND: There is no study concerning safety and accuracy of pedicle screw placement in Marfan syndrome. The objective of this study is to investigate accuracy and safety of pedicle screw placement in scoliosis associated with Marfan syndrome. METHODS: CT scanning was performed to analyze accuracy of pedicle screw placement. Pedicle perforations were classified as medial, lateral or anterior and categorized to four grades: ≤ 2 mm as Grade 1, 2.1-4.0 mm as Grade 2, 4...
March 21, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28321935/novel-fbn1-mutation-in-a-family-with-inherited-marfan-syndrome-p-cys2672arg
#19
Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz
No abstract text is available yet for this article.
March 20, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28317480/novel-insights-into-complex-cardiovascular-pathologies-using-4d-flow-analysis-by-cardiovascular-magnetic-resonance-imaging
#20
Adam James Lewandowski, Betty Raman, Rajarshi Banerjee, Matteo Milanesi
BACKGROUND: It is essential that we are able to assess variations in blood flow in order to fully understand cardiovascular function in disease pathologies and for identification of individuals at long-term risk of cardiovascular disease development. Qualitative and quantitative assessments of blood flow by imaging modalities have been limited, and much of the accurate quantification has relied on invasive measures. METHODS: This review discusses how four-dimensional velocity cardiovascular magnetic resonance (4D flow CMR) offers increasing potential for the non-invasive assessment of blood flow in the heart and major blood vessels such as the aorta...
March 17, 2017: Current Pharmaceutical Design
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