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https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#1
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27906200/evaluating-the-quality-of-marfan-genotype-phenotype-correlations-in-existing-fbn1-databases
#2
Kristian A Groth, Yskert Von Kodolitsch, Kerstin Kutsche, Mette Gaustadnes, Kasper Thorsen, Niels H Andersen, Claus H Gravholt
BACKGROUND: Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score. METHODS AND RESULTS: We evaluated four databases (UMD-FBN1, ClinVar, the Human Gene Mutation Database (HGMD), and Uniprot) containing 2,250 FBN1 variants supported by 4,904 records presented in 307 references...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27898546/lateral-position-for-cesarean-delivery-because-of-severe-aortocaval-compression-in-a-patient-with-marfan-syndrome-a-case-report
#3
John C Coffman, Russell L Legg, Catherine F Coffman, Kenneth R Moran
Prompt recognition and management of hypotension resulting from aortocaval compression syndrome are essential to optimize the maternal and fetal outcomes. Management involves increasing leftward uterine displacement and sometimes full lateral positioning, although lateral position during cesarean delivery is typically considered to be impractical. We report an obstetric patient case of severe aortocaval compression syndrome resulting in hypotension and loss of consciousness that ultimately underwent cesarean delivery under general anesthesia in the lateral position...
November 28, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27896999/identify-cancer-driver-genes-through-shared-mendelian-disease-pathogenic-variants-and-cancer-somatic-mutations
#4
Meng Ma, Changchang Wang, Benjamin S Glicksberg, Eric E Schadt, Shuyu D Li, Rong Chen
Genomic sequencing studies in the past several years have yielded a large number of cancer somatic mutations. There remains a major challenge in delineating a small fraction of somatic mutations that are oncogenic drivers from a background of predominantly passenger mutations. Although computational tools have been developed to predict the functional impact of mutations, their utility is limited. In this study, we applied an alternative approach to identify potentially novel cancer drivers as those somatic mutations that overlap with known pathogenic mutations in Mendelian diseases...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27894713/abdominal-aortic-aneurysm-in-marfan-syndrome
#5
Tracy Hagerty, Patrick Geraghty, Alan C Braverman
OBJECTIVE: Marfan syndrome (MFS) leads to aortic root aneurysm, while descending thoracic aortic aneurysm (TAA) occurs less commonly. Abdominal aortic aneurysm (AAA) is rarely reported in MFS. Risk factors for AAA are poorly understood and there are no guidelines for AAA screening in MFS. We sought to characterize AAA among Marfan patients in our center. METHODS: The records of 12 adults with MFS and AAA disease were reviewed. Clinical features, imaging, operative reports, and outcomes were analyzed...
November 25, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27893734/an-ipsc-derived-vascular-model-of-marfan-syndrome-identifies-key-mediators-of-smooth-muscle-cell-death
#6
Alessandra Granata, Felipe Serrano, William George Bernard, Madeline McNamara, Lucinda Low, Priya Sastry, Sanjay Sinha
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1. To investigate the pathogenesis of aortic aneurysms in MFS, we generated a vascular model derived from human induced pluripotent stem cells (MFS-hiPSCs). Our MFS-hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation...
November 28, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27890843/total-endovascular-aortic-repair-in-a-patient-with-marfan-syndrome
#7
Mau Amako, Rafaëlle Spear, Rachel E Clough, Adrien Hertault, Richard Azzaoui, Teresa Martin Gonzalez, Jonathan Sobocinski, Stéphan Haulon
OBJECTIVE: To describe a total endovascular aortic repair with branched and fenestrated endografts in a young patient with Marfan syndrome and a chronic aortic dissection. Open surgery is the gold standard to treat aortic dissections in patients with aortic disease and Marfan syndrome. METHODS: In 2000, a 38-year-old man with Marfan syndrome underwent open ascending aorta repair for an acute type A aortic dissection. One year later, a redo sternotomy was performed for aortic valve replacement...
November 24, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27879251/altered-smooth-muscle-cell-force-generation-as-a-driver-of-thoracic-aortic-aneurysms-and-dissections
#8
REVIEW
Dianna M Milewicz, Kathleen M Trybus, Dongchuan Guo, H Lee Sweeney, Ellen Regalado, Kristine Kamm, James T Stull
The importance of maintaining contractile function in aortic smooth muscle cells (SMCs) is evident by the fact that heterozygous mutations in the major structural proteins or kinases controlling contraction lead to the formation of aneurysms of the ascending thoracic aorta that predispose to life-threatening aortic dissections. Force generation by SMC requires ATP-dependent cyclic interactions between filaments composed of SMC-specific isoforms of α-actin (encoded by ACTA2) and myosin heavy chain (MYH11). ACTA2 and MYH11 mutations shown to disrupt this cyclic interaction predispose to thoracic aortic disease...
November 22, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27862906/characterization-of-pain-disability-and-psychological-burden-in-marfan-syndrome
#9
Traci J Speed, Vani A Mathur, Matthew Hand, Bryt Christensen, Paul D Sponseller, Kayode A Williams, Claudia M Campbell
The clinical manifestations of Marfan syndrome frequently cause pain. This study aimed to characterize pain in a cohort of adults with Marfan syndrome and investigate demographic, physical, and psychological factors associated with pain and pain-related disability. Two hundred and forty-five participants (73% female, 89% non-Hispanic white, 90% North American) completed an online questionnaire assessing clinical features of Marfan syndrome, pain severity, pain-related disability, physical and mental health, depressive symptoms, pain catastrophizing, and insomnia...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27852591/ventricular-vascular-coupling-in-marfan-and-non-marfan-aortopathies
#10
Farina Loeper, Jantine Oosterhof, Mark van den Dorpel, Denise van der Linde, Yaxin Lu, Elizabeth Robertson, Brett Hambly, Richmond Jeremy
BACKGROUND: Marfan syndrome (MFS) and familial non-syndromal thoracic aortic aneurysm and dissection (ns-TAAD) are genetic aortopathies causing aortic dilatation with increased aortic stiffness. Left ventricular (LV) contractility and ventricular-vascular coupling index (VVI) were compared between MFS and ns-TAAD and determinants of VVI were investigated. METHODS AND RESULTS: Patients with MFS (M 57, F 47) and ns-TAAD (M 72, F 39) were studied by echocardiography and compared with controls (M 77, F 71)...
November 16, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27851274/1639-acute-abdominal-pain-in-a-teenager-with-marfan-syndrome-a-known-complication-in-a-new-location
#11
Abbie Woudwyk, Jason Thomas, Nikita Vandenbosch, Jambunathan Krishnan, Heather Sowinski, Elizabeth Rosner, Adam Robinson, Anthony Olivero
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27847075/combined-nuss-procedure-and-cardiac-procedure-through-a-left-anterolateral-thoracotomy
#12
François Roubertie, Sowmya Ramanan, Frederic Lavrand, Jean-Benoit Thambo
Aortic root aneurysms associated with severe pectus excavatum caused by Marfan's syndrome can be challenging to correct in children. Recent reports suggest single-stage correction of both cardiac and chest wall deformities through a median sternotomy. We report a 9-year-old girl with Marfan's syndrome, an ascending aorta aneurysm, mitral regurgitation, and pectus excavatum, who underwent David's procedure with mitral valve repair and the Nuss procedure to correct the thoracic deformity. This single-stage combined procedure was performed through a left anterolateral thoracotomy...
December 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27847065/an-option-for-concomitant-management-of-moderate-marfan-root-aneurysm-at-the-time-of-mitral-valve-repair-a-role-for-personalized-external-aortic-root-support
#13
Umberto Benedetto, Xu Yu Jin, Elaine Hill, Tom Treasure, Mario Petrou
Two patients had mitral valve repair for severe regurgitation in the presence of a Marfan aortic root aneurysm. Concomitant personalized external aortic root support was used at the same operation to halt aneurysm progression and to correct mild aortic regurgitation.
December 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27843325/the-role-of-the-multidisciplinary-health-care-team-in-the-management-of-patients-with-marfan-syndrome
#14
REVIEW
Yskert von Kodolitsch, Meike Rybczynski, Marina Vogler, Thomas S Mir, Helke Schüler, Kerstin Kutsche, Georg Rosenberger, Christian Detter, Alexander M Bernhardt, Axel Larena-Avellaneda, Tilo Kölbel, E Sebastian Debus, Malte Schroeder, Stephan J Linke, Bettina Fuisting, Barbara Napp, Anna Lena Kammal, Klaus Püschel, Peter Bannas, Boris A Hoffmann, Nele Gessler, Eva Vahle-Hinz, Bärbel Kahl-Nieke, Götz Thomalla, Christina Weiler-Normann, Gunda Ohm, Stefan Neumann, Dieter Benninghoven, Stefan Blankenberg, Reed E Pyeritz
Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS...
2016: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/27826344/clinical-characteristics-of-marfan-syndrome-in-korea
#15
A Young Lim, Ju Sun Song, Eun Kyoung Kim, Shin Yi Jang, Tae-Young Chung, Seung-Hyuk Choi, Kiick Sung, June Huh, I-Seok Kang, Yeon Hyeon Choe, Chang-Seok Ki, Duk-Kyung Kim
BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27825688/aortic-dissection-in-pregnancy-management-strategy-and-outcomes
#16
Jun-Ming Zhu, Wei-Guo Ma, Sven Peterss, Long-Fei Wang, Zhi-Yu Qiao, Bulat A Ziganshin, Jun Zheng, Yong-Min Liu, John A Elefteriades, Li-Zhong Sun
BACKGROUND: Aortic dissection in pregnancy is a rare but lethal catastrophe. Clinical experiences are limited. We report our experience in 25 patients focusing on etiology, management strategies, and outcomes. METHODS: Between June 1998 and February 2015, we treated 25 pregnant women (mean age, 31.6 ± 4.7 years) in whom aortic dissection developed at a mean of 28 ± 10 gestational weeks (GWs). Type A aortic dissection (TAAD) was present in 20 (80%) and type B (TBAD) in 5 (20%)...
November 5, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27824871/aortic-and-cardiac-structure-and-function-using-high-resolution-echocardiography-and-optical-coherence-tomography-in-a-mouse-model-of-marfan-syndrome
#17
Ling Lee, Jason Z Cui, Michelle Cua, Mitra Esfandiarei, Xiaoye Sheng, Winsey Audrey Chui, Michael Haoying Xu, Marinko V Sarunic, Mirza Faisal Beg, Cornelius van Breemen, George G S Sandor, Glen F Tibbits
Marfan syndrome (MFS) is an autosomal-dominant disorder of connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mortality is often due to aortic dissection and rupture. We investigated the structural and functional properties of the heart and aorta in a [Fbn1C1039G/+] MFS mouse using high-resolution ultrasound (echo) and optical coherence tomography (OCT). Echo was performed on 6- and 12-month old wild type (WT) and MFS mice (n = 8). In vivo pulse wave velocity (PWV), aortic root diameter, ejection fraction, stroke volume, left ventricular (LV) wall thickness, LV mass and mitral valve early and atrial velocities (E/A) ratio were measured by high resolution echocardiography...
2016: PloS One
https://www.readbyqxmd.com/read/27816335/developmental-changes-in-aortic-mechanical-properties-in-normal-fetuses-and-fetuses-with-cardiovascular-disease
#18
Mio Taketazu, Masaya Sugimoto, Hirofumi Saiki, Hirotaka Ishido, Satoshi Masutani, Hideaki Senzaki
BACKGROUND: We hypothesized that fetal aortic mechanical properties assessed by aortic diameter (AoD) and flow show maturational changes during the gestational period, and that these properties are different in fetuses with congenital heart diseases and fetuses with normal development. METHODS: Phasic changes in ascending AoD along with Doppler flow profile were measured in 84 consecutive normal fetuses (gestational age, 18-36 weeks) and in 30 consecutive fetuses with cardiovascular diseases (gestational age, 22-39 weeks)...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27814256/oral-management-of-marfan-syndrome-an-overview-and-case-report
#19
Esdras Campos França, Lucas Guimarães Abreu, Saul Martins Paiva, Alexandre Fortes Drummond, Maria Esperanza Cortes
Marfan syndrome is an autosomal-dominant genetic disorder that affects connective tissues. Diagnosis is based on genetic history as well as major and minor clinical criteria. This article presents a case of Marfan syndrome, emphasizing the clinical manifestations of the disease, and provides an overview of oral management. Knowledge of the etiopathologic and clinical aspects of this condition is essential to providing dental treatment aimed at improving the quality of life of affected individuals.
November 2016: General Dentistry
https://www.readbyqxmd.com/read/27812333/fibrillins-in-tendon
#20
REVIEW
Betti Giusti, Guglielmina Pepe
Tendons among connective tissue, mainly collagen, contain also elastic fibers (EF) made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon. Only in the last years, studies on structure and function of EF in tendons have been performed. Aim of this review is to revise data on the organization of EF in tendons, in particular fibrillin structure and function, and on the clinical manifestations associated to alterations of EF in tendons...
2016: Frontiers in Aging Neuroscience
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