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https://www.readbyqxmd.com/read/28544831/aortic-root-surgery-in-marfan-syndrome-medium-term-outcome-in-a-single-center-experience
#1
Christine H Attenhofer Jost, Heidi M Connolly, Christopher G Scott, Naser M Ammash, Juan M Bowen, Hartzell V Schaff
BACKGROUND: The study aim was to analyze the authors' experience with aortic root surgery in Marfan syndrome (MFS), and to expand the surgical outcome data of patients meeting the Ghent criteria (Marfan registry). METHODS: Analyses were performed of data acquired from MFS patients (who met the Ghent criteria), including an aortic root surgery and Kaplan-Meier survival. RESULTS: Between April 2004 and February 2012, a total of 59 MFS patients (mean age at surgery 36 ± 13 years) underwent 67 operations for aortic root aneurysm (n = 52), aortic valve (AV) regurgitation (n = 15), acute aortic dissection (n = 2), and/or mitral valve (MV) regurgitation resulting from MV prolapse (n = 7)...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28540066/cine-cmr-partial-voxel-segmentation-demonstrates-increased-aortic-stiffness-among-patients-with-marfan-syndrome
#2
Parmanand Singh, Zaid Almarzooq, Noel C F Codell, Yi Wang, Mary J Roman, Richard B Devereux, Jonathan W Weinsaft
BACKGROUND: Standard cine-cardiac magnetic resonance (CMR) imaging is commonly used to evaluate cardiac structure, geometry and function. Prior studies have shown that automated segmentation via partial voxel interpolation (PVI) accurately quantifies phantom-based cardiac chamber volumes and necropsy left ventricular myocardial mass. Despite this, the applicability and usefulness of PVI in the determination of physiologic parameters of the aorta such as aortic stiffness has yet to be investigated...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28539832/recapitulating-and-correcting-marfan-syndrome-in-a-cellular-model
#3
Jung Woo Park, Li Yan, Chris Stoddard, Xiaofang Wang, Zhichao Yue, Leann Crandall, Tiwanna Robinson, Yuxiao Chang, Kyle Denton, Enqin Li, Bin Jiang, Zhenwu Zhang, Kristen Martins-Taylor, Siu-Pok Yee, Hong Nie, Feng Gu, Wei Si, Ting Xie, Lixia Yue, Ren-He Xu
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in FBN1 gene, which encodes a key extracellular matrix protein FIBRILLIN-1. The haplosufficiency of FBN1 has been implicated in pathogenesis of MFS with manifestations primarily in cardiovascular, muscular, and ocular tissues. Due to limitations in animal models to study the late-onset diseases, human pluripotent stem cells (PSCs) offer a homogeneic tool for dissection of cellular and molecular pathogenic mechanism for MFS in vitro. Here, we first derived induced PSCs (iPSCs) from a MFS patient with a FBN1 mutation and corrected the mutation, thereby generating an isogenic "gain-of-function" control cells for the parental MFS iPSCs...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28539414/moderately-elevated-homocysteine-does-not-contribute-to-thoracic-aortic-aneurysm-in-mice
#4
Jasmin Roohi, Benjamin Kang, David Bernard, Djahida Bedja, Harry C Dietz, Lawrence C Brody
Background: Moderate hyperhomocysteinemia is an attractive target for intervention because it is present in 5-7% of the population and can be reversed by diet. This approach presupposes that hyperhomocysteinemia is directly involved in the disease process. Epidemiologic studies have indicated that moderately elevated homocysteine may contribute to thoracic aortic aneurysm (TAA) dilatation and dissection in humans. In vitro, elevated homocysteine disrupts the structure and function of extracellular matrix components, suggesting that moderate hyperhomocysteinemia may contribute to the development and/or progression of TAA...
May 24, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28523383/anterior-sacral-meningocele-presenting-as-intracystic-bleeding
#5
Ignacio Javier Gilete-Tejero, Marta Ortega-Martínez, Jacinto Mata-Gómez, María Rico-Cotelo, Luis Miguel Bernal-García, Beatriz Yerga-Lorenzana, Ignacio Casado-Naranjo
PURPOSE: To report a case of anterior sacral meningocele with intralesional bleeding secondary to sacrococcygeal trauma. Likewise, there is a discussion about the physiopathology and the surgical approach to these types of lesions. METHODS: A 43-year-old man diagnosed with Marfan syndrome suffered sacrococcygeal trauma. He was admitted to the emergency room due to symptoms of headache, nausea, and lower limb subjective weakness. CT and MRI showed a large retroperitoneal mass with hemorrhagic content close to the sacrum...
May 18, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28503431/a-pilot-study-of-intraocular-lens-explantation-in-69-eyes-in-chinese-patients
#6
Fang Chai, Bo Ma, Xin-Guang Yang, Juan Li, Mei-Fang Chu
AIM: To study the effects of intraocular lens (IOL) explantation and demographic characteristics. METHODS: Retrospective non-comparative case series. Clinical data recorded from patient charts included the following: demographic, preoperative and postoperative characteristics; complications; surgical methods, and changes in visual acuity. RESULTS: A total of 69 eyes in 67 Chinese patients who received IOL explants were studied. The patients' mean age at the time of explantation was 46...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28500690/tnf-receptor-associated-periodic-syndrome-traps-mimicking-chronic-spontaneous-urticaria
#7
S Aurich, J C Simon, R Treudler
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare (about one per million) autosomal dominant autoinflammatory disease being typically characterized by recurrent fever episodes accompanied by variable gastrointestinal, musculoskeletal, neurological, lymphoid, urogenital and skin symptoms (table 1) [1-3]. We report on a 21 year old non atopic male with prediagnosed IgA deficiency, Marfan syndrome and hypothyroidism who first presented in our university allergy centre with three year history of antihistamine resistant, only slightly itching urticarial rash being accompanied by fatigue...
May 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28483364/how-to-investigate-a-child-with-excessive-growth
#8
Régis Coutant, Aurélie Donzeau, Anne Decrequy, Mathilde Louvigné, Natacha Bouhours-Nouet
The diagnostic approach to tall stature in children is based on collecting birth data (macrosomia), sizes and family puberty, a family history of constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity (normal or accelerated), general examination and assessment of puberty, and bone age. When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned...
May 5, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28482718/pregnancy-and-mesenchimal-dysplasias-marfan-syndrome-ehlers-danlos-syndrome-hereditary-hemorrhagic-telangiectasia
#9
L S Radetskaya, A D Makatsariya, V O Bitsadze, J K Khizroeva
No abstract text is available yet for this article.
May 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28480089/atraumatic-acromioclavicular-dislocation-a-case-report-and-review-of-the-literature
#10
Nasrat Sadeghi, Pieter Stijn Haen, Ron Onstenk
Acromioclavicular dislocation (AC dislocation) is a common injury of the shoulder. In contrast to a traumatic cause, nontraumatic dislocation is very rare. We report on a 17-year-old female that presented with voluntary recurrent dislocation of the right AC joint followed by recurrent pain without instability of the ipsilateral shoulder. Clinical examination showed crepitation as well as palpitation pain and dislocation of the AC joint. There were no symptoms of Marfan or Ehlers-Danlos syndrome as other joint examinations were also negative for hypermobility...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28479826/a-case-of-acute-paraplegia-due-to-aortic-dissection-in-marfan-syndrome
#11
B Prakash, R Krishnanand Pai, V Chaitra, P Ramasamy, N Shuba
No abstract text is available yet for this article.
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28476049/corneal-k-values-as-a-diagnostic-screening-tool-for-marfan-syndrome
#12
Jan Luebke, Daniel Boehringer, Philipp Eberwein, Thomas Reinhard
PURPOSE: Marfan syndrome (MFS) is diagnosed based on Ghent nosology, including major and minor criteria such as increased axial length (AXL) and flattened corneal curvature (higher K-values) or myopia of more than -3 diopters (D) in its latest revision. Because corneal flattening may, in part, be caused by AXL increase, it may be helpful to consider K-values separately. We present statistical evaluation of using corneal K-values for identifying MFS. METHODS: A retrospective study of K-values of 74 right eyes of 74 patients with MFS, who were compared with an age- and AXL-matched group of 74 right eyes of 74 patients without MFS...
June 2017: Cornea
https://www.readbyqxmd.com/read/28473723/high-resolution-morphological-approach-to-analyse-elastic-laminae-injuries-of-the-ascending-aorta-in-a-murine-model-of-marfan-syndrome
#13
Júlia López-Guimet, Jordi Andilla, Pablo Loza-Alvarez, Gustavo Egea
In Marfan syndrome, the tunica media is disrupted, which leads to the formation of ascending aortic aneurysms. Marfan aortic samples are histologically characterized by the fragmentation of elastic laminae. However, conventional histological techniques using transverse sections provide limited information about the precise location, progression and 3D extension of the microstructural changes that occur in each lamina. We implemented a method using multiphoton excitation fluorescence microscopy and computational image processing, which provides high-resolution en-face images of segmented individual laminae from unstained whole aortic samples...
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28468757/relationship-between-fibrillin-1-genotype-and-severity-of-cardiovascular-involvement-in-marfan-syndrome
#14
Romy Franken, Gisela Teixido-Tura, Maria Brion, Alberto Forteza, Jose Rodriguez-Palomares, Laura Gutierrez, David Garcia Dorado, Gerard Pals, Barbara Jm Mulder, Artur Evangelista
BACKGROUND: The effect of FBN1 mutation type on the severity of cardiovascular manifestations in patients with Marfan syndrome (MFS) has been reported with disparity results. OBJECTIVES: This study aims to determine the impact of the FBN1 mutation type on aortic diameters, aortic dilation rates and on cardiovascular events (ie, aortic dissection and cardiovascular mortality). METHODS: MFS patients with a pathogenic FBN1 mutation followed at two specialised units were included...
May 3, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28467929/ppar%C3%AE-links-bmp2-and-tgf%C3%AE-1-pathways-in-vascular-smooth-muscle-cells-regulating-cell-proliferation-and-glucose-metabolism
#15
Laurent Calvier, Philippe Chouvarine, Ekaterina Legchenko, Nadine Hoffmann, Jonas Geldner, Paul Borchert, Danny Jonigk, Miklos M Mozes, Georg Hansmann
BMP2 and TGFβ1 are functional antagonists of pathological remodeling in the arteries, heart, and lung; however, the mechanisms in VSMCs, and their disturbance in pulmonary arterial hypertension (PAH), are unclear. We found a pro-proliferative TGFβ1-Stat3-FoxO1 axis in VSMCs, and PPARγ as inhibitory regulator of TGFβ1-Stat3-FoxO1 and TGFβ1-Smad3/4, by physically interacting with Stat3 and Smad3. TGFβ1 induces fibrosis-related genes and miR-130a/301b, suppressing PPARγ. Conversely, PPARγ inhibits TGFβ1-induced mitochondrial activation and VSMC proliferation, and regulates two glucose metabolism-related enzymes, platelet isoform of phosphofructokinase (PFKP, a PPARγ target, via miR-331-5p) and protein phosphatase 1 regulatory subunit 3G (PPP1R3G, a Smad3 target)...
May 2, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28466775/oxidation-injury-and-local-mediator-interplay-in-marfan-syndrome
#16
Franz Tatzber, Ulrike Resch, Willibald Wonisch, Robert Berent, Helmut Sinzinger
No abstract text is available yet for this article.
May 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28465996/coronary-involvement-in-marfan-syndrome-the-role-of-electrocardiographically-gated-computed-tomography-angiography
#17
Rocco Donato, Emanuele David, Alfredo Blandino, Michele Gaeta, Domenico Spinelli, Giorgio Ascenti
We report a case of coronary artery and aortic root aneurysms in a 50-year-old man with Marfan syndrome. The coexistence of these findings is uncommon and rarely reported. We underline the role of electrocardiographically gated computed tomography angiography in the diagnosis of coronary aneurysm in this category of patients.
April 2017: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/28455451/long-term-mir-29b-suppression-reduces-aneurysm-formation-in-a-marfan-mouse-model
#18
Homare Okamura, Fabian Emrich, Jeffrey Trojan, Peter Chiu, Alex R Dalal, Mamoru Arakawa, Tetsuya Sato, Kiril Penov, Tiffany Koyano, Albert Pedroza, Andrew J Connolly, Marlene Rabinovitch, Cristina Alvira, Michael P Fischbein
Aortic root aneurysm formation and subsequent dissection and/or rupture remain the leading cause of death in patients with Marfan syndrome. Our laboratory has reported that miR-29b participates in aortic root/ascending aorta extracellular matrix remodeling during early aneurysm formation in Fbn1(C1039G/+) Marfan mice. Herein, we sought to determine whether miR-29b suppression can reduce aneurysm formation long-term. Fbn1(C1039G/+) Marfan mice were treated with retro-orbital LNA-anti-miR-29b inhibitor or scrambled-control-miR before aneurysms develop either (1) a single dose prenatally (pregnant Fbn1(C1039G/+) mice at 14...
April 2017: Physiological Reports
https://www.readbyqxmd.com/read/28454886/aortic-arch-in-marfan-syndrome-repaired-using-the-xl-stent
#19
Noelia Cenizo Revuelta, Vicente Gutiérrez Alonso, Carlos Vaquero Puerta
No abstract text is available yet for this article.
April 25, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28449459/endovascular-repair-of-residual-intimal-tear-or-distal-new-entry-after-frozen-elephant-trunk-for-type-a-aortic-dissection
#20
Xu-Dong Pan, Bin Li, Wei-Guo Ma, Jun Zheng, Yong-Min Liu, Jun-Ming Zhu, Lian-Jun Huang, Li-Zhong Sun
BACKGROUND: In patients with type A dissection, residual dissection and new distal entry tears following the frozen elephant trunk (FET) procedure adversely affect long-term prognosis. Management include open and endovascular repair, while clinical experience is limited. We evaluate the efficacy of thoracic endovascular aortic repair (TEVAR) in management of residual intimal tear or distal new entry tear following FET in patients with type A aortic dissection (TAAD). METHODS: Between May 2003 and April 2013, we performed FET and total arch replacement for 1,003 patients with TAAD...
March 2017: Journal of Thoracic Disease
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