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Marfan syndrome

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https://www.readbyqxmd.com/read/29440159/multicentre-study-on-capsular-closure-versus-non-capsular-closure-during-hip-arthroscopy-in-danish-patients-with-femoroacetabular-impingement-fai-protocol-for-a-randomised-controlled-trial
#1
Christian Dippmann, Otto Kraemer, Bent Lund, Michael Krogsgaard, Per Hölmich, Martin Lind, Karen Briggs, Marc Philippon, Bjarne Mygind-Klavsen
INTRODUCTION: Hip arthroscopy has become a standard procedure in the treatment of hip joint pain not related to osteoarthritis or dysplasia in the young and active patient. There has been increasing focus on the contribution of the hip capsule to function and on stability following hip arthroscopy. It has been suggested that capsular closure after hip arthroscopy may prevent microinstability and macroinstability of the hip joint and reduce revision rate. However, it remains unknown whether capsular closure should be performed as a standard procedure when performing hip arthroscopies, especially in patients without additional risk factors for instability such as hypermobility or dysplasia of the hip...
February 10, 2018: BMJ Open
https://www.readbyqxmd.com/read/29433732/inhibition-of-marfan-syndrome-aortic-root-dilation-by-losartan-role-of-angiotensin-ii-receptor-type-1-independent-activation-of-endothelial-function
#2
Stephanie L Sellers, Nadia Milad, Rayleigh Chan, Michael Mielnik, Una Jermilova, Paul L Huang, Rini de Crom, Jeremy A Hirota, James C Hogg, George G Sandor, Casey Van Breemen, Mitra Esfandiarei, Michael A Seidman, Pascal Bernatchez
Marfan syndrome (MFS) is a genetic disorder that frequently leads to aortic root dissection and aneurysm. Despite promising preclinical and pilot clinical data, a recent large-scale study using antihypertensive angiotensin II (AngII) receptor type 1 (ATR1) blocker losartan has failed to meet expectations at preventing MFS-associated aortic root dilation, casting doubts about optimal therapy. To study the deleterious role of normal ATR1 signaling in aortic root widening, we generated MFS mice lacking ATR1a expression in an attempt to preserve protective ATR2 signaling...
February 3, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29433109/pathogenesis-of-aortic-wall-complications-in-marfan-syndrome
#3
Nimrat Grewal, Adriana C Gittenberger-de Groot
BACKGROUND: Patients with Marfan (MFS) syndrome and patients with a bicuspid aortic valve (BAV) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV). To elucidate potential common as well as distinct pathways of clinical relevance, we compared the histopathological substrates of aortic pathology. PATIENT AND METHODS: Ascending aortic wall specimen were divided in five groups: BAV (n=36) and TAV (n=23) without and with dilation and non-dilated MFS (n=8)...
February 2, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29431101/marfan-syndrome-presenting-with-diffuse-emphysematous-change-of-the-lung
#4
Hiroshi Ishii, Rikako Shima, Yoshiaki Kinoshita, Hisako Kushima
No abstract text is available yet for this article.
February 3, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29430431/minimally-invasive-mitral-valve-repair-in-a-woman-with-marfan-syndrome-and-type-b-dissection
#5
Mi Hee Lim, Hyung Gon Je, Sang Kwon Lee
We report the case of a patient with mitral regurgitation complicated by type B dissection and Marfan syndrome (MFS) who was managed successfully with minimally invasive mitral valve repair. Without type A aortic dissection or aortic root dilation, MFS patients may develop mitral valve regurgitation, as in this case, and need valve surgery to improve their symptoms and long-term survival. However, it is not clear that a full sternotomy and prophylactic aortic surgery are necessary. Although retrograde perfusion to the dissected aorta is controversial, our approach minimizes the risk of future anticipated aortic surgery in MFS patients...
February 2018: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29421425/a-custom-made-treovance%C3%A2-abdominal-aortic-aneurysm-endograft-to-correct-late-failure-of-trombone-technique-with-a-tube-endograft
#6
George S Georgiadis, Christos Argyriou, Christina D Valsamidou, Alexandrina S Nikova, Miltos K Lazarides
PURPOSE: Unfavorable anatomy is one of the major limitations of endovascular aortic aneurysm repair (EVAR) with specifically, adverse proximal neck morphology excluding many patients from receiving the standard endograft devices. Thoracic tube endografts have been used to overcome the issue of wide infrarenal necks, either as a sole device (single tubes or double tubes using the trombone technique) or as the proximal part of a bifurcated device fixed to the aortic bifurcation or infrarenally oriented...
February 5, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29421423/rupture-of-an-abdominal-aortic-aneurysm-in-a-young-man-with-marfan-syndrome
#7
Maria Weinkouff Pedersen, Khiem Dinh Huynh, Ulrik Thorngren Baandrup, Dorte Guldbrand Nielsen, Niels Holmark Andersen
Abdominal aortic aneurysms are very rare in Marfan syndrome. We present a case with a young non-smoking and normotensive male with Marfan syndrome, who developed an infrarenal abdominal aortic aneurysm that presented with rupture to the retroperitoneal cavity causing life-threatening bleeding shock. The patient had acute aortic surgery and survived. Five months before this incident, the patient had uneventful elective aortic root replacement (a.m David) due to an enlarged aortic root. At that time, his abdominal aorta was assessed with a routine ultrasound scan that showed a normal sized abdominal aorta...
February 5, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29415372/one-stage-replacement-of-the-aorta-from-arch-to-thoracoabdominal-region
#8
Takashi Matsueda, Yuki Ikeno, Koki Yokawa, Yojiro Koda, Soichiro Henmi, Takeshi Inoue, Hiroshi Tanaka, Yutaka Okita
OBJECTIVES: We present our experience with one-stage replacement of thoracic aneurysm from the ascending aorta to the thoracoabdominal aorta. PATIENTS AND METHODS: Fourteen patients (10 male and 4 female; mean age 53.6 ± 12.4 years) with extended thoracic aortic aneurysms underwent graft replacement. The pathology of the diseased aorta was chronic aortic dissection in 13 patients and intraoperative retrograde aortic dissection in 1 patient. Five patients had Marfan syndrome...
February 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29395883/-investigation-of-tall-stature-in-children-diagnostic-work-up-review-of-the-main-causes
#9
J Vergier, E Marquant, T Busa, R Reynaud
Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes...
January 29, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29392152/small-bowel-diverticulosis-and-jejunal-perforation-in-marfan-syndrome
#10
Benjamin S Robey, Anne F Peery, Evan S Dellon
Marfan syndrome is an autosomal dominant disorder involving mutation in the FBN1 gene, which encodes fibrillin-1, a protein critical to maintain the integrity of connective tissue. A mutation in this gene can affect multiple organ systems, but it is not classically associated with gastrointestinal complications. We describe a man with Marfan syndrome with multiple small bowel diverticula leading to small intestinal bacterial overgrowth and recurrent small bowel perforations.
2018: ACG Case Reports Journal
https://www.readbyqxmd.com/read/29385431/surgery-for-acute-type-i-aortic-dissection-without-resection-of-supra-aortic-entry-sites-leads-to-unfavourable-aortic-remodelling
#11
Woon Heo, Suk-Won Song, Kwang-Hun Lee, Shin-Young Lee, Tae-Hoon Kim, Min-Young Baek, Kyung-Jong Yoo
OBJECTIVES: This study aimed to evaluate the impact of remnant re-entries in arch branches on postoperative change in the aortic arch and descending aortic diameters and the rate of major adverse aortic events. METHODS: Between January 2010 and December 2016, 249 patients underwent surgery for acute Type I aortic dissection. Patients who underwent total arch replacement, had Marfan syndrome or had intramural haematoma were excluded. Seventy-two patients with predischarge and follow-up computed tomography scans were enrolled...
January 29, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29383220/pectus-updates-and-special-considerations-in-marfan-syndrome
#12
Stephanie Fraser, Anne Child, Ian Hunt
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29381979/multiple-arterial-thromboses-due-to-cystic-medial-degeneration-erdheim-gsell-a-case-report
#13
Philipp Jud, Thomas Gary, Franz Hafner, Kurt Tiesenhausen, Thomas Ott, Wolfgang Kurt Oswald, Marianne Brodmann
RATIONALE: Cystic medial degeneration Erdheim-Gsell is a vascular pathology mainly of the large vessels, which is mostly associated with Marfan syndrome or Ehlers-Danlos syndrome. The clinical findings of this entity are aneurysms of the aorta or large peripheral arteries which usually present in an acute setting due to rupture of an aneurysm. PATIENT CONCERNS: We present a case of a 43-year-old Caucasian male with histologically proven cystic medial degeneration of the lower limb vessels mimicking peripheral artery occlusive disease...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29376591/-association-of-polymorphism-of-1800255-col3a1-gene-with-pelvic-organ-prolapse-and-urinary-incontinence-in-women-preliminary-data
#14
G R Kasyan, D A Vishnevskii, L V Akulenko, Yu O Kozlova, E I Sharova, N V Tupikina, D Yu Pushkar'
RELEVANCE: Collagen type I and III have a significant role in the development of pelvic organ prolapse (POP) and urinary incontinence in women. The role of the COL3A1 gene polymorphism remains debatable. Some studies and meta-analyzes have found a direct correlation between genetic defects and POP, while other researchers have not confirmed this association. This study aimed to investigate the association of the 1800255 COL3A1 gene polymorphism with the development of POP and urinary incontinence in women...
December 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29371244/cell-type-specific-contributions-of-the-angiotensin-ii-type-1a-receptor-to-aorta-homeostasis-and-aneurysmal-disease
#15
Josephine Galatioto, Cristina I Caescu, Jens Hansen, Jason Cook, Irving Miramontes, Ravi Iyengar, Francesco Ramirez
OBJECTIVE: Two were the aims of this study: first, to translate whole-genome expression profiles into computational predictions of functional associations between signaling pathways that regulate aorta homeostasis and the activity of angiotensin II type 1a receptor (At1ar) in either vascular endothelial or smooth muscle cells and second, to characterize the impact of endothelial cell- or smooth muscle cell-specific At1ar disruption on the development of thoracic aortic aneurysm in fibrillin-1 hypomorphic mice, a validated animal model of early onset progressively severe Marfan syndrome...
January 25, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29357934/the-importance-of-genotype-phenotype-correlation-in-the-clinical-management-of-marfan-syndrome
#16
Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno
BACKGROUND: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. MATERIAL AND METHODS: This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29352010/genetics-of-syndromic-and-non-syndromic-mitral-valve-prolapse
#17
REVIEW
Thierry Le Tourneau, Jean Mérot, Antoine Rimbert, Solena Le Scouarnec, Vincent Probst, Hervé Le Marec, Robert A Levine, Jean-Jacques Schott
Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease...
January 19, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#18
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29336629/pupillary-manifestations-of-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#19
Sanket S Shah, Sudhi P Kurup, Hantamalala Ralay Ranaivo, Rebecca B Mets-Halgrimson, Marilyn B Mets
BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#20
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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