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Marfans syndrome

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https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#1
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
#2
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
#3
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
#4
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
#5
Mark Nicholls
No abstract text is available yet for this article.
March 21, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28931008/biometric-and-structural-ocular-manifestations-of-marfan-syndrome
#6
Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow
BACKGROUND: To study biometric and structural ocular manifestations of Marfan syndrome (MFS). METHODS: Observational, retrospective, comparative cohort study in a tertiary referral center on 285 MFS patients and 267 controls. Structural and biometric ocular characteristic were compared. RESULTS: MFS eyes were longer (axial length 24.25 ± 1.74 mm versus 23.89 ± 1.31 mm, p < 0.001) and had a flatter cornea than control eyes (mean keratometry 41...
2017: PloS One
https://www.readbyqxmd.com/read/28929526/the-influence-of-marfans-and-bicuspid-valves-on-outcomes-following-aortic-valve-reimplantation
#7
Carlos E Martín, Carlos García Montero, Santiago-Fiz Serrano, Ana González, Susana Mingo, Vanessa Moñivas, Jorge Centeno, Alberto Forteza
BACKGROUND: We analyzed our early and midterm results with aortic valve reimplantation surgery to determine the influence of Marfan syndrome and bicuspid valves on outcomes with this technique. METHODS: Between March 2004 and December 2015, 267 patients underwent aortic valve reimplantation operations. The mean diameter of the sinuses of Valsalva was 50 ± 3 mm and moderate/severe aortic regurgitation was present in 34.4% of these patients. A bicuspid aortic valve was present in 21% and 40% had Marfan syndrome...
September 20, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28925368/a-marfan-syndrome-human-induced-pluripotent-stem-cell-line-with-a-heterozygous-fbn1-c-4082g-a-mutation-ismmsi002-b-for-disease-modeling
#8
Sandra Klein, Jill L Dvornik, Akshitha R Yarrabothula, Christoph Schaniel
Fibroblasts of a 28-year-old female with Marfan syndrome (MFS) due to a heterozygous FBN1 c.4082G>A mutation were reprogrammed using the Sendai virus delivery method. The established human induced pluripotent stem cell (hiPSC) line named ISMMSi002-B expresses pluripotency markers, has a normal karyotype, carries the specific FBN1 mutation and is able to differentiate into three germ layers in vitro. ISMMSi002-B has utility in studying MFS pathogenesis, including skeletal abnormalities, cardiomyopathy, and vascular smooth muscle cell dysfunction associated with aortic aneurysm...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28913124/postpartum-aortic-dissection-in-a-patient-without-marfan-s-syndrome
#9
Mihriban Yalçın, Melih Ürkmez, Kaptanı Derya Tayfur, Serkan Yazman
Aortic dissection can occur in pregnancy or during the postpartum period without pre-existing disease and it is a rare but potentially life-threatening event. Herein, we present a young woman without Marfan's syndrome who developed a postpartum ascending aortic dissection 5 days after cesarean section.
December 2016: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28906534/management-of-a-complicated-redo-giant-dissecting-aortic-aneurysm
#10
Ibrahim Kara, Alper Erkin, MHalil Ibrahim Erkengel, Kiyasettin Asil
Giant aortic aneurysm is defined as an aneurysm of the aorta of greater than 10 cm in diameter. This rare condition is associated with a high risk of morbidity and mortality and it may lead to fatal complications such as rupture and/or dissection if not managed with proper surgical planning and expertise. Other than atherosclerosis, the main causes of giant ascending aortic aneurysms include Marfan and Ehlers-Danhlos syndromes. Herein we report on a young male patient who had had an aortic valve replacement five years earlier due to a bicuspid aortic valve leading to aortic failure, accompanied by aortic coarctation...
July 23, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28905442/fibrillin-microfibrils-structural-tensometers-of-elastic-tissues
#11
REVIEW
Cay M Kielty
Fibrillin microfibrils are indispensable structural elements of connective tissues in multicellular organisms from early metazoans to humans. They have an extensible periodic beaded organization, and support dynamic tissues such as ciliary zonules that suspend the lens. In tissues that express elastin, including blood vessels, skin and lungs, microfibrils support elastin deposition and shape the functional architecture of elastic fibres. The vital contribution of microfibrils to tissue form and function is underscored by the heritable fibrillinopathies, especially Marfan syndrome with severe elastic, ocular and skeletal tissue defects...
September 14, 2017: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/28902582/marfan-s-syndrome-with-ectopia-lentis
#12
Jayanth Sridhar, Jonathan S Chang
A 41-year-old man presented with progressive loss of vision in both eyes that was worse in the right eye than in the left. There was no history of trauma. His uncorrected visual acuity was 6/200 in the right eye and 20/100 in the left eye. Slit-lamp examination revealed ectopia lentis in both eyes,..
September 14, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28901506/whole-exome-sequencing-identifies-fbn1-mutations-in-two-patients-with-early%C3%A2-onset-type-b-aortic-dissection
#13
Qian Han, Wenwen Zhang, Changjian Liu, Min Zhou, Feng Ran, Long Yi, Xitai Sun, Zhao Liu
The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features. In order to identify the causative mutation in two young patients with acute type B aortic dissection without syndromic features, whole exome sequencing (WES) was performed in the present study...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28886508/effects-of-clinico-pathological-risk-factors-on-in-vitro-mechanical-properties-of-human-dilated-ascending-aorta
#14
Anna Ferrara, Pasquale Totaro, Simone Morganti, Ferdinando Auricchio
Ascending aorta aneurysms (AsAA) are associated with a degeneration of the aortic wall tissue, which leads to changes in tissue mechanical properties. Risk factors for the development of the AsAA disease are recognized in patient age and gender, valve type, hypertension, diabetes mellitus, smoking history, and a prior diagnosis of Marfan syndrome. The present study aims to assess how such clinico-pathological factors can affect the mechanical properties of human dilated ascending aorta. Specimens of AsAA are excised from 68 patients who underwent elective AsAA surgical repair and stretched until rupture during the execution of uniaxial tensile tests...
August 31, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#15
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28878896/oral-manifestations-of-a-rare-variant-of-marfan-syndrome
#16
Abhishek Sinha, Sandeep Kaur, Syed Ahmed Raheel, Kirandeep Kaur, Mohammed Alshehri, Omar Kujan
This article reports the oral manifestations of an unusual presentation of Marfan syndrome (MFS) and provides an evidence to the importance of recognizing the oral features in confirming the diagnosis of MFS. Dentists have a vital role in confirming the diagnosis of developmental disorders that involve the craniofacial compendium.
September 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28871571/acute-aortic-dissection-pathogenesis-risk-factors-and-diagnosis
#17
Joanna Gawinecka, Felix Schönrath, Arnold von Eckardstein
Acute aortic dissection is a rare but life-threatening condition with a lethality rate of 1 to 2% per hour after onset of symptoms in untreated patients. Therefore, its prompt and proper diagnosis is vital to increase a patient's chance of survival and to prevent grievous complications. Typical symptoms of acute aortic dissection include severe chest pain, hypotension or syncope and, hence, mimic acute myocardial infarction or pulmonary embolism. Advanced age, male gender, long-term history of arterial hypertension and the presence of aortic aneurysm confer the greatest population attributable risk...
September 5, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28868620/an-oblique-bitoric-rigid-contact-lens-fitting-for-the-management-of-lens-subluxation-in-marfan-syndrome
#18
Richard G Lindsay, Regina Leung, Bruce Herbert
No abstract text is available yet for this article.
September 3, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28868315/impact-of-thoracic-endovascular-repair-on-pulsatile-aortic-strain-in-acute-type-b-aortic-dissection-preliminary-results
#19
Foeke J H Nauta, Guido H W van Bogerijen, Michele Conti, Chiara Trentin, Frans L Moll, Joost A Van Herwaarden, Ferdinando Auricchio, Santi Trimarchi
BACKGROUND: The impact of thoracic endovascular aortic repair (TEVAR) on pulsatile aortic strain remains undetermined in patients with Type B aortic dissection (TBAD). Therefore, we quantified pulsatile aortic strain in TBAD patients and control subjects. METHODS: We retrospectively analyzed two TBAD patients from our database with cardiac-gated computed tomography angiography imaging available before and after TEVAR and two control subjects (67- and 76-year-old males)...
April 2017: Aorta (Stamford, Conn.)
https://www.readbyqxmd.com/read/28860223/differentiation-and-application-of-induced-pluripotent-stem-cell-derived-vascular-smooth-muscle-cells
#20
REVIEW
Eithne Margaret Maguire, Qingzhong Xiao, Qingbo Xu
Vascular smooth muscle cells (VSMCs) play a role in the development of vascular disease, for example, neointimal formation, arterial aneurysm, and Marfan syndrome caused by genetic mutations in VSMCs, but little is known about the mechanisms of the disease process. Advances in induced pluripotent stem cell technology have now made it possible to derive VSMCs from several different somatic cells using a selection of protocols. As such, researchers have set out to delineate key signaling processes involved in triggering VSMC gene expression to grasp the extent of gene regulatory networks involved in phenotype commitment...
August 31, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
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