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Marfan syndrome

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https://www.readbyqxmd.com/read/29666143/truncated-c-terminus-of-fibrillin-1-induces-marfanoid-progeroid-lipodystrophy-mpl-syndrome-in-rabbit
#1
Mao Chen, Bing Yao, Qiangbing Yang, Jichao Deng, Yuning Song, Tingting Sui, Lina Zhou, HaoBing Yao, Yuanyuan Xu, Hongsheng Ouyang, Daxin Pang, Zhanjun Li, Liangxue Lai
Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the FBN1 gene. Here, we describe the generation of a rabbit MPL model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system...
April 9, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29656818/the-aortic-root-does-not-dilate-over-time-after-replacement-of-the-aortic-valve-and-ascending-aorta-in-patients-with-bicuspid-or-tricuspid-aortic-valves
#2
Sonya K Hui, Chun-Po Steve Fan, Shakira Christie, Christopher M Feindel, Tirone E David, Maral Ouzounian
OBJECTIVE: Whether the aortopathy associated with bicuspid aortic valve (BAV) disease occurs secondary to genetic or hemodynamic factors remains controversial. In this article we describe the natural history of the aortic root in patients with bicuspid versus tricuspid aortic valves (TAVs) after replacement of the aortic valve and ascending aorta. METHODS: From 1990 to 2010, 406 patients (269 BAV, 137 TAV) underwent aortic valve and ascending aorta replacement at a single institution...
March 13, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29623400/biomechanical-properties-of-the-patellar-tendon-in-children-with-heritable-connective-tissue-disorders
#3
Jacob K Jensen, Rie H Nygaard, Rene B Svensson, Hanne D Hove, S Peter Magnusson, Michael Kjær, Christian Couppé
PURPOSE: Hereditary connective tissue disorders (HCTDs), such as classic Ehlers-Danlos syndrome (cEDS) and Marfan syndrome (MS) share overlapping features like hypermobility and tissue fragility. In clinical practice it remains a challenge to distinguish children and adolescents with HCTD from healthy children. The purpose of this study was to investigate the biomechanical properties of the patellar tendon and joint laxity (Beighton score) in children with HCTDs (n = 7) compared to healthy controls (n = 14)...
April 5, 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29611032/thoracoabdominal-aortic-replacement-in-patients-aged-50-and-younger
#4
REVIEW
Kenji Minatoya, Yosuke Inoue, Yoshimasa Seike, Atsushi Omura, Kyokun Uehara, Hiroaki Sasaki, Hitoshi Matsuda, Junjiro Kobayashi
OBJECTIVE: Open repair of a thoracoabdominal aortic aneurysm (TAAA) has been regarded as one of the most invasive procedures in cardiovascular surgery. Conversely, endovascular technology currently enables the repair of the thoracoabdominal aorta, and this approach is less invasive. However, the long-term durability of this method of endovascular repair remains unknown. This investigation retrospectively analyzed the long-term durability of thoracoabdominal aorta repair in patients aged 50 and younger...
April 2, 2018: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29587526/ocular-manifestations-of-marfan-syndrome-in-children-and-adolescents
#5
Daniel J Salchow, Petra Gehle
PURPOSE: To study ocular manifestations of Marfan syndrome in children and adolescents. METHODS: Retrospective comparative cohort study on consecutive patients up to age 17 years, presenting to the interdisciplinary Marfan clinic of Charité-University Medicine Berlin over a period of 4 years. RESULTS: A total of 52 Marfan syndrome patients and 73 controls were enrolled. In Marfan syndrome eyes, the cornea was flatter (mean keratometry, 40...
March 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29574675/warfarin-related-nephropathy-with-acute-kidney-injury-in-a-patient-with-immunoglobulin-a-nephropathy
#6
Hiroki Ishii, Keiji Hirai, Katsunori Yanai, Taisuke Kitano, Mitsutoshi Shindo, Haruhisa Miyazawa, Kiyonori Ito, Yuichiro Ueda, Yoshio Kaku, Taro Hoshino, Honami Mori, Susumu Ookawara, Yoshihiko Ueda, Yoshiyuki Morishita
A 55-year-old man with Marfan syndrome taking warfarin for anticoagulant therapy after aortic valve replacement developed acute kidney injury (serum creatinine level of 9.01 mg/dL) and gross macrohematuria. Renal biopsy showed red cell casts in the renal tubules, glomerular crescent formation in the glomeruli with immunoglobulin A deposition, and global sclerosis. Based on these findings, the patient was diagnosed with warfarin-related nephropathy with acute kidney injury characterized by immunoglobulin A nephropathy with crescents...
March 24, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29573446/scoliosis-vertebral-growth-plate-histomorphometry-comparisons-to-controls-growth-rates-and-compressive-stresses
#7
Donita I Bylski-Austrow, David L Glos, Eric J Wall, Alvin H Crawford
Scoliosis progression in skeletally immature patients depends on remaining growth. Relationships between vertebral growth plate histomorphometry, growth rates, and mechanical stresses have been reported in several animal studies. Hypertrophic zone heights and chondrocyte heights have been used to assess treatments that aim to modulate growth. The purpose of this study was to determine whether human vertebral physeal hypertrophic zone and cell heights differed between two groups: severe scoliosis and autopsy controls...
March 24, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29563371/modified-sleeve-technique-in-aortic-valve-sparing-operation-for-marfan-syndrome
#8
Yung-Szu Wu, Shih-Rong Hsieh, Chung-Chi Wang, Chung-Lin Tsai
We devised a simple modification of the Florida Sleeve procedure to perform aortic valve-sparing surgery. This technique is simple, quick, effective, and safe. We used this technique in operations performed on two young patients with Marfan syndrome. The initial and short-term results were satisfactory.
March 22, 2018: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29547877/fibrillin-1-insufficiency-alters-periodontal-wound-healing-failure-in-a-mouse-model-of-marfan-syndrome
#9
Keisuke Handa, Syouta Abe, V Venkata Suresh, Yoshiyasu Fujieda, Masaki Ishikawa, Ai Orimoto, Yoko Kobayashi, Satoru Yamada, Satoko Yamaba, Shinya Murakami, Masahiro Saito
OBJECTIVE: Marfan syndrome (MFS) is a systemic connective tissue disorder caused by insufficient fibrillin-1 (FBN-1), a major component of microfibrils that controls the elasticity and integrity of connective tissues. FBN-1 insufficiency in MFS leads to structural weakness, which causes various tissue disorders, including cardiovascular and periodontal disease. However, the role of FBN-1 insufficiency in the destruction and regeneration of connective tissue has not yet been clarified...
March 6, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29546810/total-artificial-heart-implantation-in-a-young-marfan-syndrome-patient
#10
Prashant Rao, Jack B Keenan, Taufiek K Rajab, Samuel Kim, Richard Smith, Orazio Amabile, Zain Khalpey
INTRODUCTION: Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. METHODS: A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection...
March 2018: International Journal of Artificial Organs
https://www.readbyqxmd.com/read/29541693/ruptured-abdominal-aortic-aneurysm-repair-in-pediatric-marfan-syndrome-patient
#11
Joyce J Lu, Jason D Slaikeu, Peter Y Wong
Marfan syndrome is a well-described autosomal dominant connective tissue disorder with a constellation of anatomic characteristics including aortic degeneration as a result of the spontaneous mutation of the fibrillin gene, FBN1 . Whereas life-threatening dissection and ascending aneurysmal rupture have been thoroughly documented in the literature, aneurysms of the abdominal aorta and those present in the pediatric population have only rarely been reported. In this case report, we describe presentation, successful open surgical repair, and recovery of a pediatric Marfan syndrome patient with a ruptured abdominal aortic aneurysm...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29530068/deregulated-microrna-and-mrna-expression-profiles-in-the-peripheral-blood-of-patients-with-marfan-syndrome
#12
Masood Abu-Halima, Mustafa Kahraman, Dominic Henn, Tanja Rädle-Hurst, Andreas Keller, Hashim Abdul-Khaliq, Eckart Meese
BACKGROUND: MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and messenger RNAs (mRNA) in monogenic constitutional anomalies affecting several organ systems, like Marfan syndrome (MFS). We performed integrated miRNA and mRNA expression profiling in blood samples of Marfan patients in order to investigate deregulated miRNA and mRNA networks in these patients which could serve as potential diagnostic and prognostic tools for MFS therapy...
March 12, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29525839/ocular-manifestation-in-marfan-syndrome-corneal-biomechanical-properties-relate-to-increased-systemic-score-points
#13
Dido Scheibenberger, Andreas Frings, Johannes Steinberg, Helke Schüler, Vasyl Druchkiv, Toam Katz, Yskert von Kodolitsch, Stephan Linke
PURPOSE: To evaluate corneal deformation to an air puff as a new noninvasive tool to document disease status in Marfan syndrome (MFS) METHODS: Prospective observational cohort study. We included patients diagnosed with MFS who had their routine cardiovascular follow-up and applied the revised Ghent nosology to define two subgroups according to a high (≥ 7) and a low (< 7 points) systemic score. Dynamic Scheimpflug-based biomechanical analyses (CorvisST® [CST; Oculus GmbH]) were performed...
March 10, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29519682/left-subclavian-artery-dissection-associated-with-connective-tissue-abnormalities-resembling-marfan-like-syndrome-in-an-english-bulldog
#14
Ilaria Biasato, Renato Zanatta, Lorella Maniscalco, Rocchina Evangelista, Bryan Iotti, Selina Iussich
The unexpected demise of a 12-year-old male neutered English bulldog solicited a gross examination, which revealed a blood-filled space occurring in the proximal left subclavian artery (LSA). It originated about 1 cm from the branching point of the vessel and progressively dilated for 3 cm distal to this origin. Histopathological investigation showed that the tunica media of the LSA was more than 50% split, with the blood-filled space dissecting through the arterial wall. In the tunica media of the LSA, severe multifocal fragmentation and/or loss of the elastic fibers was observed...
March 5, 2018: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29515038/massive-aggrecan-and-versican-accumulation-in-thoracic-aortic-aneurysm-and-dissection
#15
Frank S Cikach, Christopher D Koch, Timothy J Mead, Josephine Galatioto, Belinda B Willard, Kelly B Emerton, Matthew J Eagleton, Eugene H Blackstone, Francesco Ramirez, Eric E Roselli, Suneel S Apte
Proteoglycan accumulation is a hallmark of medial degeneration in thoracic aortic aneurysm and dissection (TAAD). Here, we defined the aortic proteoglycanome using mass spectrometry, and based on the findings, investigated the large aggregating proteoglycans aggrecan and versican in human ascending TAAD and a mouse model of severe Marfan syndrome. The aortic proteoglycanome comprises 20 proteoglycans including aggrecan and versican. Antibodies against these proteoglycans intensely stained medial degeneration lesions in TAAD, contrasting with modest intralamellar staining in controls...
March 8, 2018: JCI Insight
https://www.readbyqxmd.com/read/29514205/histopathological-evaluation-of-aortic-dissection-a-comparison-of-congenital-versus-acquired-aortic-wall-weakness
#16
Hiroaki Osada, Masahisa Kyogoku, Tekehiko Matsuo, Naoki Kanemitsu
OBJECTIVES: The aim of this study was to identify pathological changes of aortic dissection based on histopathological evaluation of aortic wall weakness by comparing patients with and without congenital abnormalities. METHODS: We reviewed records of patients who underwent repair for dissection-related aortic disease between 2008 and 2015. Fifty patients (20 men and 30 women; mean age 66.9 ± 14.0 years) who underwent surgery with subsequent histopathological examination of the aortic wall were divided into 2 groups...
March 5, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29511238/corneal-curvature-astigmatism-and-aberrations-in-marfan-syndrome-with-lens-subluxation-evaluation-by-pentacam-hr-system
#17
Jiahui Chen, Qinghe Jing, Yating Tang, Dongjin Qian, Yi Lu, Yongxiang Jiang
Marfan syndrome (MFS) is associated with abnormalities of corneal biometric characteristics. We conducted a retrospective case-control study including 55 eyes of the MFS patients with lens subluxation and 53 normal eyes of the control subjects to evaluate the corneal curvature, astigmatism and aberrations using a rotating Scheimpflug camera (Pentacam HR). Compared with the control group, the anterior, posterior, and total corneal curvature were flatter in the MFS group. The anterior and total corneal astigmatism were higher in the MFS patients, whereas the posterior corneal astigmatism was not significantly different between the two groups...
March 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29510914/testing-patterns-for-genetically-triggered-aortic-and-arterial-aneurysms-and-dissections-at-an-academic-center
#18
Kelli L Hicks, Peter H Byers, Elina Quiroga, Melanie G Pepin, Sherene Shalhub
OBJECTIVE: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. METHODS: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015...
March 3, 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29506182/consecutive-operative-procedures-in-patients-with-marfan-syndrome-up-to-28-years-after-initial-aortic-root-surgery
#19
Nazan Puluca, Melchior Burri, Julie Cleuziou, Markus Krane, Rüdiger Lange
OBJECTIVES: Most patients (75%) with Marfan syndrome present with aortic root dilatation that may require surgical intervention. However, associated cardiovascular disorders are not limited to the aortic root. These patients frequently require consecutive operations on the remaining thoracic aorta or the heart valves. Our intent was to characterize the spectrum of such procedures. METHODS: Data from all patients with Marfan syndrome undergoing aortic root surgery at our centre between 1988 and 2016 were analysed retrospectively...
February 28, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29501645/predictors-for-late-reoperation-after-surgical-repair-of-acute-type-a-aortic-dissection
#20
Tomoaki Suzuki, Tohru Asai, Takeshi Kinoshita
BACKGROUND: It is impossible to resolve all the problems of the entire diseased aorta with just one operation for acute type A aortic dissection, which requires additional surgical treatment in the long term. METHODS: From April 2003 to March 2017, 310 patients underwent surgical repair for acute type A aortic dissection at our institution. Of these, thirty-two (10.3%) died in hospital. Of the 278 hospital survivors, 38 underwent late reoperation associated with aortic dissection during the follow-up period...
March 1, 2018: Annals of Thoracic Surgery
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