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https://www.readbyqxmd.com/read/28209341/two-stage-correction-using-the-taylor-spatial-frame-for-severe-hindfoot-deformity-in-a-patient-with-marfan-syndrome-a-case-report
#1
Suzuyo Ohashi, Kazuya Ikoma, Masamitsu Kido, Yoshinobu Oka, Wook-Cheol Kim, Toshikazu Kubo
No abstract text is available yet for this article.
February 10, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28203407/thoracoabdominal-aortic-replacement-for-crawford-extent-ii-aneurysm-after-thoracic-endovascular-aortic-repair
#2
Haiou Hu, Tie Zheng, Junming Zhu, Yongmin Liu, Ruidong Qi, Lizhong Sun
BACKGROUND: The surgical treatment of Crawford extent II aneurysms after thoracic endovascular aortic repair (TEVAR) remains challenging, because of the need to remove the failed endograft and the complexity of the aortic reconstruction. We retrospectively reviewed our experience with surgical management of Crawford extent II aneurysms after TEVAR using thoracoabdominal aortic replacement (TAAR). METHODS: Eleven patients (10 males, 1 female) with Crawford extent II aneurysm after TEVAR were treated with TAAR between August 2012 and May 2015...
January 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28186842/marfan-syndrome-presenting-as-giant-bullous-emphysema
#3
Vickie R Shannon, Amit S Nanda, Saadia A Faiz
No abstract text is available yet for this article.
February 10, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28185474/ascending-aortic-aneurysm-and-diaphragmatic-hernia-in-a-case-of-marfan-syndrome
#4
Jignesh Kothari, Manish Hinduja, Kinnaresh Baria, Himani Pandya
Marfan syndrome commonly affects the skeletal, ocular, and cardiovascular systems. Involvement of the gastrointestinal system is known but uncommon. Intervention depends upon the system involved and the severity of symptoms. Special awareness is required for the diagnosis and management of gastrointestinal involvement in these patients. We report a rare case of simultaneous surgical repair of an ascending aortic aneurysm and a type IV hiatal hernia in a 35-year-old man with Marfan syndrome.
January 1, 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28173744/glutathione-system-participation-in-thoracic-aneurysms-from-patients-with-marfan-syndrome
#5
Alejandra María Zúñiga-Muñoz, Israel Pérez-Torres, Verónica Guarner-Lans, Elías Núñez-Garrido, Rodrigo Velázquez Espejel, Claudia Huesca-Gómez, Ricardo Gamboa-Ávila, María Elena Soto
Aortic dilatation in Marfan syndrome (MFS) is progressive. It is associated with oxidative stress and endothelial dysfunction that contribute to the early acute dissection of the vessel and can result in rupture of the aorta and sudden death. We evaluated the participation of the glutathione (GSH) system, which could be involved in the mechanisms that promote the formation and progression of the aortic aneurysms in MFS patients. Patients and methods: Aortic aneurysm tissue was obtained during chest surgery from eight control subjects and 14 MFS patients...
February 8, 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28168299/multi-imaging-assessment-of-successful-surgical-treatment-of-pulmonary-artery-dilatation-and-dissection-in-marfan-syndrome
#6
Nilda Espinola-Zavaleta, Sergio Criales-Vera, Valentin Herrera, Virgilia Soto-Abraham, Maria Elena Soto
No abstract text is available yet for this article.
February 7, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28168077/a-case-of-neonatal-marfan-syndrome-a-management-conundrum-and-the-role-of-a-multidisciplinary-team
#7
Elliott J Carande, Samuel J Bilton, Satish Adwani
Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28162481/-252-characterization-of-pain-disability-and-psychological-burden-in-marfan-syndrome
#8
T Speed, V Mathur, B Christensen, M Hand, K Williams, P Sponseller, C Campbell
No abstract text is available yet for this article.
April 2016: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28157248/neonatal-marfan-syndrome-diagnosed-prenatally
#9
Anna Wójtowicz, Dagna Ochrem, Artur Dobosz, Hubert Huras, Maria Respondek-Liberska
No abstract text is available yet for this article.
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28152038/exome-sequencing-covers-98-of-mutations-identified-on-targeted-next-generation-sequencing-panels
#10
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targeted NGS panels as a reference...
2017: PloS One
https://www.readbyqxmd.com/read/28149632/marfan-syndrome-is-the-main-independent-predictor-of-recurrent-aortic-dissection-in-patients-enrolled-in-the-international-registry-of-aortic-dissection-irad
#11
COMMENT
Florian S Schoenhoff, Thierry P Carrel
No abstract text is available yet for this article.
December 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#12
Ryan S D'Souza, Dobromir Slavov, Sharon Graw, Jean Jirikowic, Emily Todd, Robert K Rogers, Matthew R Taylor
BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys--Dietz syndromes encompass the principal diagnosable phenotypes along the genetic vascular disorder spectrum, a substantial subset of patients cannot be adequately classified under a known diagnosis through clinical or molecular diagnostic methods...
January 31, 2017: International Angiology: a Journal of the International Union of Angiology
https://www.readbyqxmd.com/read/28119285/aortopathy-in-a-mouse-model-of-marfan-syndrome-is-not-mediated-by-altered-transforming-growth-factor-%C3%AE-signaling
#13
Hao Wei, Jie Hong Hu, Stoyan N Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A Dichek
BACKGROUND: Marfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin-1 (FBN1); however, the mechanisms through which fibrillin-1 deficiency causes MFS-associated aortopathy are uncertain. Recently, attention was focused on the hypothesis that MFS-associated aortopathy is caused by increased transforming growth factor-β (TGF-β) signaling in aortic medial smooth muscle cells (SMC). However, there are many reasons to doubt that TGF-β signaling drives MFS-associated aortopathy...
January 24, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28117189/large-family-with-marfan-syndrome-demonstrating-the-pathogenicity-of-a-synonymous-variant-p-ile2118-in-the-fibrillin-1-gene
#14
Juan Pablo Trujillo-Quintero, José María Herrera-Noreña, Víctor X Mosquera-Rodríguez, Xusto Fernández-Fernández, José Manuel Vázquez-Rodríguez, Roberto Barriales-Villa
No abstract text is available yet for this article.
January 20, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28112127/retropupillary-iris-claw-intraocular-lens-for-the-surgical-correction-of-aphakia-in-cases-with-microspherophakia
#15
Sameh Mosaad Fouda, Mahmoud A Al Aswad, Basem M Ibrahim, Ashraf Bori, Hala K Mattout
PURPOSE: This study aimed to evaluate the safety and efficacy of retropupillary fixation of an iris-claw intraocular lens (IOL; Verisyse polymethyl methacrylate IOL, Abbott Medical Optics [AMO], Netherlands) for the surgical correction of aphakia in microspherophakic eyes without sufficient capsular support. DESIGN: This was a prospective, interventional, noncomparative case series. METHODS: This interventional case series comprised 17 eyes of 9 microspherophakic patients...
December 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28112018/reversed-frozen-elephant-trunk-technique-to-treat-a-type-ii-thoracoabdominal-aortic-aneurysm
#16
E Sebastian Debus, Tilo Kölbel, Sabine Wipper, Holger Diener, Beate Reiter, Christian Detter, Nikolaos Tsilimparis
PURPOSE: To describe a hybrid technique of reversed frozen elephant trunk to treat thoracoabdominal aortic aneurysms (TAAA) through an abdominal only approach. TECHNIQUE: The technique is demonstrated in a 29-year-old Marfan patient with a chronic type B aortic dissection previously treated with a thoracic stent-graft who presented with a thoracoabdominal false lumen aneurysm. Through an open distal retroperitoneal approach to the abdominal aorta, a frozen elephant trunk graft was implanted over a super-stiff wire upside down with the stent-graft component in the thoracic aorta...
November 1, 2016: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/28111381/establishment-of-dna-methylation-patterns-of-the-fibrillin1-fbn1-gene-in-porcine-embryos-and-tissues
#17
Yoshikazu Arai, Kazuhiro Umeyama, Kenta Takeuchi, Natsumi Okazaki, Naomi Hichiwa, Sayaka Yashima, Kazuaki Nakano, Hiroshi Nagashima, Jun Ohgane
DNA methylation in transcriptional regulatory regions is crucial for gene expression. The DNA methylation status of the edges of CpG islands, called CpG island shore, is involved in tissue/cell-type-specific gene expression. Haploinsufficiency diseases are caused by inheritance of one mutated null allele and are classified as autosomal dominant. However, in the same pedigree, phenotypic variances are observed despite the inheritance of the identical mutated null allele, including FBN1, which is responsible for development of the haploinsufficient Marfan disease...
January 22, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/28108550/cardiac-resynchronization-therapy-in-adults-with-congenital-heart-disease
#18
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
#19
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
#20
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
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