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https://www.readbyqxmd.com/read/28069701/loss-of-axin2-results-in-impaired-heart-valve-maturation-and-subsequent-myxomatous-valve-disease
#1
Alexia Hulin, Vicky Moore, Jeanne M James, Katherine E Yutzey
AIMS: Myxomatous valve disease (MVD) is the most common aetiology of primary mitral regurgitation. Recent studies suggest that defects in heart valve development can lead to heart valve disease in adults. Wnt/β-catenin signalling is active during heart valve development and has been reported in human MVD. The consequences of increased Wnt/β-catenin signalling due to Axin2 deficiency in postnatal valve remodelling and pathogenesis of MVD were determined. METHODS AND RESULTS: To investigate the role of Wnt/β-catenin signalling, we analysed heart valves from mice deficient in Axin2 (KO), a negative regulator of Wnt/β-catenin signalling...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28067899/nitric-oxide-mediates-aortic-disease-in-mice-deficient-in-the-metalloprotease-adamts1-and-in-a-mouse-model-of-marfan-syndrome
#2
Jorge Oller, Nerea Méndez-Barbero, E Josue Ruiz, Silvia Villahoz, Marjolijn Renard, Lizet I Canelas, Ana M Briones, Rut Alberca, Noelia Lozano-Vidal, María A Hurlé, Dianna Milewicz, Arturo Evangelista, Mercedes Salaices, J Francisco Nistal, Luis Jesús Jiménez-Borreguero, Julie De Backer, Miguel R Campanero, Juan Miguel Redondo
Heritable thoracic aortic aneurysms and dissections (TAAD), including Marfan syndrome (MFS), currently lack a cure, and causative mutations have been identified for only a fraction of affected families. Here we identify the metalloproteinase ADAMTS1 and inducible nitric oxide synthase (NOS2) as therapeutic targets in individuals with TAAD. We show that Adamts1 is a major mediator of vascular homeostasis, given that genetic haploinsufficiency of Adamts1 in mice causes TAAD similar to MFS. Aortic nitric oxide and Nos2 levels were higher in Adamts1-deficient mice and in a mouse model of MFS (hereafter referred to as MFS mice), and Nos2 inactivation protected both types of mice from aortic pathology...
January 9, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28065489/chronobiology-of-acute-aortic-dissection-in-the-marfan-syndrome-from-the-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-and-the-international-registry-of-acute-aortic-dissection
#3
Hasan K Siddiqi, Steven N Luminais, Dan Montgomery, Eduardo Bossone, Harry Dietz, Arturo Evangelista, Eric Isselbacher, Scott LeMaire, Roberto Manfredini, Dianna Milewicz, Christoph A Nienaber, Mary Roman, Udo Sechtem, Michael Silberbach, Kim A Eagle, Reed E Pyeritz
Marfan syndrome (MFS) is an autosomal dominant connective tissue disease associated with acute aortic dissection (AAD). We used 2 large registries that include patients with MFS to investigate possible trends in the chronobiology of AAD in MFS. We queried the International Registry of Acute Aortic Dissection (IRAD) and the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry to extract data on all patients with MFS who had suffered an AAD. The group included 257 patients with MFS who suffered an AAD from 1980 to 2012...
December 2, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/28050602/exome-sequencing-identifies-de-novo-pathogenic-variants-in-fbn1-and-trps1-in-a-patient-with-a-complex-connective-tissue-phenotype
#4
Diane B Zastrow, Patricia A Zornio, Annika Dries, Jennefer Kohler, Liliana Fernandez, Daryl Waggott, Magdalena Walkiewicz, Christine M Eng, Melanie A Manning, Ellyn Farrelly, Paul G Fisher, Euan A Ashley, Jonathan A Bernstein, Matthew T Wheeler
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in FBN1 and TRPS1 were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28040763/feasibility-and-clinical-outcome-after-minimally-invasive-valve-sparing-aortic-root-replacement
#5
Kristina Wachter, Ulrich F W Franke, Rashmi Yadav, Ragi Nagib, Adrian Ursulescu, Samir Ahad, Hardy Baumbach
OBJECTIVES: This study aims to examine the feasibility and clinical course after minimally invasive David procedure compared with those via a conventional median sternotomy. METHODS: One hundred and ninety-two consecutive patients who underwent elective valve-sparing aortic root replacement (David procedure) with or without additional cusp repair for aortic regurgitation (n = 17, 8.9%), dilatation of the aortic root (n = 95, 49.5%) or a combination of both pathologies (n = 80, 41...
December 31, 2016: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28033436/acute-eye-pain-following-prolonged-face-down-positioning-in-a-patient-with-marfan-syndrome
#6
Megan N Scott, Christina Y Weng
No abstract text is available yet for this article.
December 29, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28031650/endovascular-repair-of-bilateral-internal-mammary-artery-aneurysms-in-a-patient-with-marfan-syndrome-a-case-report
#7
Hazem Alhawasli, Amir Darki, Bruce E Lewis
Marfan syndrome (MFS) is an autosomal dominant condition that is caused by abnormal synthesis of connective tissue. The syndrome classically affects the ocular, musculoskeletal, and cardiovascular systems. The most common cardiovascular manifestations include mitral valve prolapse/regurgitation and aortic aneurysms at high risk of rupture and dissection. However, internal mammary artery (IMA) true aneurysms are rarely reported. In this case report, we describe a 43-year-old male patient with MFS and three previous thoracotomies referred for endovascular repair of bilateral IMA true aneurysms...
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28028488/bilateral-ectopia-lentis-with-isolated-lens-coloboma-in-marfan-syndrome
#8
Sabin Sahu, Reena Yadav, Sharad Gupta, Lila Raj Puri
A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively, improving to 20/40 with -4.5 DS/-3.0 DC x 10° correction in the right eye and 20/80 with -10.0 DS/-6.5 Dc x10° correction in the left eye. On slit lamp examination under mydriasis, both eyes revealed ectopia lentis with lens coloboma and stretched zonules...
2016: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28018831/endovascular-and-operative-treatment-of-the-aortic-arch-in-a-high-risk-marfan-patient
#9
Marwan Hamiko, Matthias Endlich, Wolfgang Schiller, Armin Welz, Georg Nickenig, Chris Probst
In this case, we describe a combined endovascular and operative management for aortic arch repair in a 57-year-old Marfan patient with complex aortic arch geometry previously treated with several open surgeries for acute type A dissection. The patient, who was presented to our department with dorsal pain, deemed to be at high operative risk for another open aortic surgery due to massive aortic calcification. It is an unusual method of placing a custom-made stent-graft system in the false aortic lumen with operative and endovascular treatment of the supra-aortic vessels...
December 2016: Thoracic and Cardiovascular Surgeon Reports
https://www.readbyqxmd.com/read/28017277/outcomes-after-surgery-for-acute-type-a-aortic-dissection-in-non-marfan-syndrome-patients-with-long-life-expectancy-a-24-year-follow-up
#10
Alessandro Piccardo, Tommaso Regesta, Alexandre Le Guyader, Nicola Di Lorenzo, François Bertin, Francis Pesteil, Elisabeth Cornu
BACKGROUND: Long-term survival and risk of reoperation in "non-Marfan syndrome" patients with a long life expectancy who undergo emergency surgery for acute type A aortic dissection (aTAAD) are not well known. AIM: To analyse survival, risk of reoperation and quality of life in this population. METHODS: From 1990 to 2010, all patients aged≤50 years and not affected by Marfan syndrome, who underwent emergency surgery for aTAAD at two institutions, were included in this analysis...
December 21, 2016: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28009948/the-modified-bentall-procedure-a-single-institution-experience-in-249-patients-with-a-maximum-follow-up-of-21-5-years
#11
Michele Celiento, Giacomo Ravenni, Rafik Margaryan, Gabriele Ferrari, Stefania Blasi, Stefano Pratali, Uberto Bortolotti
BACKGROUND: The study aim was to evaluate the long-term clinical outcomes of the modified Bentall procedure (MBP) with a mechanical conduit. METHODS: Between 1993 and 2014, a total of 249 patients (mean age 62 ± 12 years; range: 25-87 years) underwent a MBP at the authors' institution. The main indication was annuloaortic ectasia in 102 patients (41%), followed by acute aortic dissection in 82 patients (33%); moderate to severe aortic regurgitation was present in 79% of cases...
July 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/27971657/patient-characteristics-and-health-outcomes-in-adults-diagnosed-with-marfan-syndrome-in-the-united-states
#12
J M Noone, B D Gordon, E Zacherle, S Whitmire, R Howden, C M Blanchette, L A Clark
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27964919/clinical-outcomes-of-the-david-v-valve-sparing-root-replacement-compared-with-bioprosthetic-valve-conduits-for-aortic-root-aneurysms
#13
Jiro Esaki, Bradley G Leshnower, Jose N Binongo, Yi Lasanajak, LaRonica McPherson, Michael E Halkos, Robert A Guyton, Edward P Chen
BACKGROUND: Valve-sparing root replacement (VSRR) is an established therapy for aortic root pathology. Limited insight exists when the results of VSRR are compared with those of conventional root replacement with use of a bioprosthetic composite conduit (BIO). This study compares the operative and midterm results of VSRR and BIO. METHODS: A retrospective review from 2002 to 2015 at a United States academic center identified 282 patients who underwent VSRR and 425 patients who underwent BIO...
December 10, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27956365/raman-microspectroscopy-as-a-diagnostic-tool-for-the-non-invasive-analysis-of-fibrillin-1-deficiency-in-the-skin-and-in-the-in-vitro-skin-models
#14
Eva Brauchle, Hannah Bauer, Patrick Fernes, Alexandra Zuk, Katja Schenke-Layland, Gerhard Sengle
: Fibrillin microfibrils and elastic fibers are critical determinants of elastic tissues where they define as tissue-specific architectures vital mechanical properties such as pliability and elastic recoil. Fibrillin microfibrils also facilitate elastic fiber formation and support the association of epithelial cells with the interstitial matrix. Mutations in fibrillin-1 (FBN1) are causative for the Marfan syndrome, a congenital multisystem disorder characterized by progressive deterioration of the fibrillin microfibril/ elastic fiber architecture in the cardiovascular, musculoskeletal, ocular, and dermal system...
December 9, 2016: Acta Biomaterialia
https://www.readbyqxmd.com/read/27956292/surgical-indications-outcomes-and-complications-with-the-use-of-a-modified-capsular-tension-ring-during-cataract-surgery
#15
Bo Li, Yongjun Wang, Monali S Malvankar-Mehta, Cindy M L Hutnik
PURPOSE: To determine the surgical indications, outcomes, and complications with the use of modified capsular tension rings (CTRs) during cataract surgery. SETTING: Ivey Eye Institute, Western University, London, Ontario, Canada. DESIGN: Systematic review. METHODS: A systematic review of databases was conducted for studies related to the use of modified CTRs during cataract surgery that were published between 1992 and 2015...
November 2016: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/27935852/three-cases-of-japanese-acromicric-geleophysic-dysplasia-with-fbn1-mutations-a-comparison-of-clinical-and-radiological-features
#16
Kosei Hasegawa, Chikahiko Numakura, Hiroyuki Tanaka, Mahoko Furujo, Toshihide Kubo, Yousuke Higuchi, Miho Yamashita, Hirokazu Tsukahara
Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27931917/co-occurrence-of-marfan-syndrome-and-bipolar-disorder-a-fifteen-year-follow-up
#17
Vijendra Nath Jha, Manoj Kumar, Jatin Tarwani
INTRODUCTION: Marfan syndrome, a chromosomal disorder, has been commonly associated with schizophrenia but no association with Bipolar affective disorder has been reported in the scientific literature. CASE REPORT: This case depicts the occurrence of Bipolar affective disorder in a previously undiagnosed case of Marfan syndrome. DISCUSSION: In this case patient had all manic episodes without any depressive or schizophrenia-like episodes, suggesting a diagnostic stability over a long period of over fifteen years...
December 2016: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/27923487/reimplantation-of-the-aortic-valve-at-20%C3%A2-years
#18
Tirone E David, Carolyn M David, Christopher M Feindel, Cedric Manlhiot
OBJECTIVE: To provide additional information on clinical and echocardiographic outcomes after reimplantation of the aortic valve (RAV) in patients with aortic root aneurysm. METHODS: All 333 patients who underwent RAV at our hospital between 1989 and 2012 were followed prospectively with periodical clinical assessment and echocardiography. The mean duration of clinical follow-up was 10.3 ± 6.8 years, and follow-up was completed within 2 years before this report...
November 16, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#19
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
#20
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
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