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Marfan syndrome

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https://www.readbyqxmd.com/read/28108550/cardiac-resynchronization-therapy-in-adults-with-congenital-heart-disease
#1
Zeliha Koyak, Joris R de Groot, Ahmed Krimly, Tara M Mackay, Berto J Bouma, Candice K Silversides, Erwin N Oechslin, Ulas Hoke, Lieselot van Erven, Werner Budts, Isabelle C Van Gelder, Barbara J M Mulder, Louise Harris
AIMS: In adults with congenital heart disease (CHD) heart failure is one of the leading causes of morbidity and mortality but experience with and reported outcome of cardiac resynchronization therapy (CRT) is limited. We investigated the efficacy of CRT in adults with CHD. METHODS AND RESULTS: This was a retrospective study including 48 adults with CHD who received CRT since 2003 in four tertiary referral centres. Responders were defined as patients who showed improvement in NYHA functional class and/or systemic ventricular ejection fraction by at least one category...
January 20, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28098115/a-novel-fibrillin-1-mutation-in-an-egyptian-marfan-family-a-proband-showing-nephrotic-syndrome-due-to-focal-segmental-glomerulosclerosis
#2
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28097118/femur-neck-fracture-in-a-young-marfan-syndrome-patient
#3
Yong-Uk Kwon, Gyu-Min Kong, Jun-Ho Park
Marfan syndrome is an autosomal dominant and could decrease bone mineral density. So patients with Marfan syndrome could vulnerable to trauma in old ages. We present the first report, to the best of our knowledge, of a rare fracture of the femoral neck with a minor traumatic history in a juvenile Marfan syndrome patient whose physis is still open. Although the patient is young, her bone mineral density was low and the geometry of femur is changed like old ages. The femur neck fracture in children is very rare and only caused by high energy trauma, we concluded that the Marfan syndrome makes the bone weaker in young age and preventative medications to avoid fractures in younger Marfan syndrome patients are necessary in early ages...
December 2016: Hip & Pelvis
https://www.readbyqxmd.com/read/28096993/like-father-like-daughter-inherited-cutis-aplasia-occurring-in-a-family-with-marfan-syndrome-a-case-report
#4
Yasmin Florence Khodeja Islam, Charles A Williams, Jennifer Jane Schoch, Israel David Andrews
We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28095089/comparative-data-on-sd-oct-for-a-retinal-nerve-fiber-layer-and-retinal-macular-thickness-in-a-large-cohort-with-marfan-syndrome
#5
WanWan Xu, Sudhi P Kurup, Amani A Fawzi, Mary K Durbin, Irene H Maumenee, Marilyn B Mets
PURPOSE: To report the distribution of macular and optic nerve topography in the eyes of individuals with Marfan syndrome aged 8-56 years using spectral domain optical coherence tomography (SD-OCT). METHODS: Thirty-three patients with Marfan syndrome underwent a full eye examination including slit-lamp biomicroscopy, indirect ophthalmoscopy, and axial length measurement; and SD-OCT measurements of the retinal nerve fiber layer (RNFL) and macular thickness. RESULTS: For patients between the ages of 8 and 12 years, the average RNFL thickness is 98 ± 9 μm, the vertical cup to disc (C:D) ratio is 0...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28069701/loss-of-axin2-results-in-impaired-heart-valve-maturation-and-subsequent-myxomatous-valve-disease
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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/28017277/outcomes-after-surgery-for-acute-type-a-aortic-dissection-in-non-marfan-syndrome-patients-with-long-life-expectancy-a-24-year-follow-up
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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