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Marfan syndrome

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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
#1
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
#2
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: J Stomatol Oral Maxillofac Surg
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
#3
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
#4
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/a-novel-fbn1-mutation-in-a-family-with-inherited-marfan-syndrome-p-cys2672arg
#5
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
#6
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
https://www.readbyqxmd.com/read/28317279/the-role-of-advanced-echocardiography-and-cardiovascular-magnetic-resonance-in-the-assessment-of-myocardial-function-in-marfan-syndrome-an-update
#7
REVIEW
Anatoli Kiotsekoglou, James C Moggridge, Anne H Child, Peter Rask
Cardiovascular assessment of patients with Marfan syndrome has normally focused on the aortic root and vascular manifestations of the disease due to the high risk of aortic dissection. Although primary myocardial impairment has long been suspected in these patients, the evidence has been controversial. Advanced echocardiography and cardiovascular magnetic resonance imaging have proven to be effective, accurate, and more sensitive in the detection of subtle cardiac dysfunction. The application of these techniques to Marfan syndrome over the last 10 years has made significant progress in demonstrating the presence of primary myocardial impairment in these patients, but further work is still required to obtain confirmatory molecular, pathophysiological, and prognostic clinical data...
March 19, 2017: Echocardiography
https://www.readbyqxmd.com/read/28304197/endovascular-treatment-of-a-dural-arteriovenous-fistula-in-a-patient-with-loeys-dietz-syndrome-a-case-report
#8
Rie Aoki, Kittipong Srivatanakul, Takahiro Osada, Kazuko Hotta, Takatoshi Sorimachi, Mitsunori Matsumae, Hiroko Morisaki
Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization...
April 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28302143/altered-aortic-3d-hemodynamics-and-geometry-in-pediatric-marfan-syndrome-patients
#9
Roel L F van der Palen, Alex J Barker, Emilie Bollache, Julio Garcia, Michael J Rose, Pim van Ooij, Luciana T Young, Arno A W Roest, Michael Markl, Joshua D Robinson, Cynthia K Rigsby
BACKGROUND: Blood flow dynamics make it possible to better understand the development of aortopathy and cardiovascular events in patients with Marfan syndrome (MFS). Aortic 3D blood flow characteristics were investigated in relation to aortic geometry in children and adolescents with MFS. METHODS: Twenty-five MFS patients (age 15.6 ± 4.0 years; 11 females) and 21 healthy controls (age 16.0 ± 2.6 years; 12 females) underwent magnetic resonance angiography and 4D flow CMR for assessment of thoracic aortic size and 3D blood flow velocities...
March 17, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28298869/pigment-dispersion-syndrome-associated-with-spontaneous-subluxation-of-crystalline-lens
#10
Vikas Veerwal, Jawahar Lal Goyal, Parul Jain, Ritu Arora
Pigment dispersion syndrome (PDS) is an ocular condition characterized by a dispersion of iris pigment throughout the eye. This pigment is deposited in a characteristic manner on the corneal endothelium as Krukenberg's spindle, anterior surface of the iris, in the trabecular meshwork, on the lens and zonule and occasionally on the anterior hyaloid face. Even with deposition of pigment on zonular fibers, no zonular weakness, or zonular dehiscence has been reported in these cases. We report a unique case of PDS with bilateral spontaneous subluxation of crystalline lens...
January 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28294527/peripartum-type-b-aortic-dissection-in-patients-with-marfan-syndrome-who-underwent-aortic-root-replacement-a-case-series-study
#11
Seisuke Sayama, Norifumi Takeda, Takayuki Iriyama, Ryo Inuzuka, Sonoko Maemura, Daishi Fujita, Haruo Yamauchi, Kan Nawata, Masahiko Bougaki, Hironobu Hyodo, Rieko Shitara, Toshio Nakayama, Atsushi Komatsu, Takeshi Nagamatsu, Yutaka Osuga, Tomoyuki Fujii
OBJECTIVE: To investigate pregnancy outcomes, especially the risk of pregnancy-related aortic dissection (AD), in patients with Marfan syndrome (MFS) after prophylactic aortic root replacement (ARR). DESIGN: Retrospective case series study. SETTING: Tertiary perinatal care center at a university hospital. POPULATION: Pregnant women fulfilling the revised Ghent nosology (2010) criteria for MFS that were managed at our institute...
March 11, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28279721/the-petticoat-technique-for-complicated-acute-stanford-type-b-aortic-dissection-using-as-distal-uncovered-stent-a-tapered-self-expanding-nitinol-device
#12
Michele Antonello, Francesco Squizzato, Chiara Colacchio, Jacopo Taglialavoro, Franco Grego, Michele Piazza
PURPOSE: Provisional ExTension To Induce COmplete Attachment (PETTICOAT) technique has shown good results in the treatment of acute type B aortic dissections (ABAD). Usually uncovered tubular stainless steel stents are used to promote distal true lumen reattachment. We describe the Petticoat technique using a conic self-expanding nitinol device as distal uncovered stent. CASE REPORT: Five cases of complicated ABAD were treated using a single-flared E-XL (Jotec-GmbH) as distal uncovered stent...
March 6, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28277377/de-novo-williams-beuren-and-inherited-marfan-syndromes-in-a-patient-with-developmental-delay-and-lens-dislocation
#13
Magdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, Bogdan Budisteanu, Eva Weis, Aurora Arghir, Ulrich Zechner, Oliver Bartsch
No abstract text is available yet for this article.
March 8, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28262292/combined-aortic-root-replacement-and-mitral-valve-surgery-the-quest-to-preserve-both-valves
#14
Hoda Javadikasgari, Eric E Roselli, Muhammad Aftab, Rakesh M Suri, Milind Y Desai, Mitra Khosravi, Frank Cikach, Monica Isabella, Jay J Idrees, Sajjad Raza, Bassman Tappuni, Brian P Griffin, Lars G Svensson, A Marc Gillinov
OBJECTIVES: Coexisting aortic root and mitral valve pathology is increasingly recognized among patients undergoing surgery. We characterized the pathology and surgical outcomes of patients with combined aortic root and mitral disease. METHODS: From 1987 to 2016, 118 patients (age 52.40 ± 17.71 years) underwent concomitant aortic root and mitral procedures (excluding aortic stenosis, endocarditis, and reoperations). Aortic root pathologies included degenerative aneurysm (94%) and aortic dissection (6%)...
January 31, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28259527/renal-artery-aneurysm-an-unusual-clinical-presentation-in-marfan-syndrome
#15
Lucio Dell'Atti
No abstract text is available yet for this article.
March 1, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28257833/biometry-characteristics-in-adults-and-children-with-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#16
Michael Kinori, Sarah Wehrli, Iris S Kassem, Nathalie F Azar, Irene H Maumenee, Marilyn B Mets
PURPOSE: To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from two Annual National Marfan Foundation Conferences (2012, 2015). DESIGN: Cross-sectional study METHODS: Subjects diagnosed as having MFS by Ghent 2 nosology were included for analysis. Subjects were divided into "adults" (≥16 years) and "children" (5-15 years). Biometric data included values for refractive error, axial length (AL), corneal curvature, anterior chamber depth, lens thickness and central corneal thickness...
February 28, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28252349/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#17
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...
March 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28244281/the-prevalence-of-marfan-syndrome-in-korea
#18
Shin Yi Jang, Su Ra Seo, Seung Woo Park, Duk Kyung Kim
The aim of this study was to assess the prevalence of Marfan syndrome (MFS) in Korean adults. Data were collected from the National Health Insurance Service in Korea from 2006 through 2013. The data consisted of primary diagnoses related to MFS (Q87.4) diagnosed according to the 10th revision of the International Statistical Classification of Diseases and Related Health Problems. The age-standardized prevalence of MFS in adults was calculated using the estimated Korean population in 2010 as a reference. Overall, the prevalence of MFS was 0...
April 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28240702/utility-of-genetic-testing-in-elite-volleyball-players-with-aortic-root-dilation
#19
Nicole Herrick, Christopher Davis, Lisa Vargas, Hal Dietz, Paul Grossfeld
Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan Syndrome (MFS). Consequently, identification of these abnormalities can be lifesaving. PURPOSE: To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. METHODS: We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva...
February 25, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28230898/manifestations-and-medicolegal-significance-of-loeys-dietz-syndrome
#20
Roger W Byard
Loeys-Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61-year-old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high-arched palate, and pectus excavatum. There was a strong family history of Loeys-Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys-Dietz syndrome...
February 23, 2017: Journal of Forensic Sciences
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