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https://www.readbyqxmd.com/read/28523383/anterior-sacral-meningocele-presenting-as-intracystic-bleeding
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#17
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28410640/florida-sleeve-procedure-is-durable-and-improves-aortic-valve-function-in-marfan-syndrome-patients
#18
Seyed Hossein Aalaei-Andabili, Tomas Martin, Philip Hess, Charles Klodell, Ashkan Karimi, George Arnaoutakis, Teng Lee, Thomas Beaver
BACKGROUND: The Florida sleeve (FS) procedure was developed as a simplified approach for repair of functional type I aortic insufficiency secondary to aortic root aneurysm. We evaluated postoperative aortic valve function, long-term survival, and freedom from reoperation in Marfan syndrome patients who underwent the FS procedure at our center. METHODS: All Marfan syndrome patients undergoing FS procedure from May 2002 to December 2014 were included. Echocardiography assessment included left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), ejection fraction, and degree of aortic insufficiency (none = 0, minimal = 1, mild = 2, moderate = 3, severe = 4)...
April 12, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28395026/the-structural-role-of-elastic-fibers-in-the-cornea-investigated-using-a-mouse-model-for-marfan-syndrome
#19
Tomas L White, Philip Lewis, Sally Hayes, James Fergusson, James Bell, Luis Farinha, Nick S White, Lygia V Pereira, Keith M Meek
Purpose: The presence of fibrillin-rich elastic fibers in the cornea has been overlooked in recent years. The aim of the current study was to elucidate their functional role using a mouse model for Marfan syndrome, defective in fibrillin-1, the major structural component of the microfibril bundles that constitute most of the elastic fibers. Methods: Mouse corneas were obtained from animals with a heterozygous fibrillin-1 mutation (Fbn1+/-) and compared to wild type controls...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28394649/adamtsl4-assessment-in-ectopia-lentis-reveals-a-recurrent-founder-mutation-in-polynesians
#20
Katherine A van Bysterveldt, Rasha Al Taie, Will Ikink, Verity F Oliver, Andrea L Vincent
BACKGROUND: To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. MATERIALS AND METHODS: Subjects underwent comprehensive ophthalmic examination, including keratometry. Mutational analysis of ADAMTSL4 and P3H2 was undertaken using PCR, high resolution melting analysis, and sequencing...
April 10, 2017: Ophthalmic Genetics
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