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Vascular ehler danlos

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https://www.readbyqxmd.com/read/29778910/a-case-of-vascular-ehlers-danlos-syndrome-with-a-cardiomyopathy-and-multi-system-involvement
#1
Nick Si Rui Lan, Michael Fietz, Nicholas Pachter, Vincent Paul, David Playford
Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype...
April 24, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29725758/ex-vivo-nonlinear-microscopy-imaging-of-ehlers-danlos-syndrome-affected-skin
#2
Norbert Kiss, Dóra Haluszka, Kende Lőrincz, Enikő Kuroli, Judit Hársing, Balázs Mayer, Sarolta Kárpáti, György Fekete, Róbert Szipőcs, Norbert Wikonkál, Márta Medvecz
Ehlers-Danlos syndrome (EDS) is the name for a heterogenous group of rare genetic connective tissue disorders with an overall incidence of 1 in 5000. The histological characteristics of EDS have been previously described in detail in the late 1970s and early 1980s. Since that time, the classification of EDS has undergone significant changes, yet the description of the histological features of collagen morphology in different EDS subtypes has endured the test of time. Nonlinear microscopy techniques can be utilized for non-invasive in vivo label-free imaging of the skin...
May 3, 2018: Archives of Dermatological Research
https://www.readbyqxmd.com/read/29709596/vascular-aspects-of-the-ehlers-danlos-syndromes
#3
REVIEW
Fransiska Malfait
The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes. Besides defects in fibrillar collagens (collagen types I, III and V), their modifying enzymes (ADAMTS-2, lysylhydroxylase 1 (LH1)), and molecules involved in collagen folding (FKBP22), defects have recently been identified in other constituents of the extracellular matrix (e...
April 27, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29700788/vascular-ehlers-danlos-syndrome-presenting-as-a-pulsatile-neck-mass-a-case-report-and-review-of-literature
#4
Bharat Maraj, Emily Harding-Theobald, Fatima Karaki
Ehlers-Danlos syndrome refers to a spectrum of connective tissue disorders typically caused by mutations in genes responsible for the synthesis of collagen. Patients with Ehlers-Danlos syndrome often exhibit hyperflexibility of joints, increased skin elasticity, and tissue fragility. Vascular Ehlers-Danlos (vEDS) is a subtype of Ehlers-Danlos syndrome with a predilection to involve blood vessels. As such, it often manifests as vascular aneurysms and vessel rupture leading to hemorrhage. There are few reports describing primary prevention of aneurysms in the setting of undiagnosed, suspected vEDS...
April 26, 2018: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/29700641/bowel-perforation-in-type-iv-vascular-ehlers-danlos-syndrome-a-systematic-review
#5
REVIEW
H El Masri, T-H Loong, G Meurette, J Podevin, F Zinzindohoue, P-A Lehur
Spontaneous gastrointestinal (GI) perforation is a well-known complication occurring in patients suffering from Type IV vascular Ehlers-Danlos syndrome (EDS IV). The aim of the present study was to review the current literature on spontaneous GI perforation in EDS IV and illustrate the surgical management and outcome when possible. A systematic review of all the published data on EDS IV patients with spontaneous GI perforation between January 2000 and December 2015 was conducted using three major databases PUBMED, EMBASE, and Cochrane Central Register of Controlled Trails...
April 26, 2018: Techniques in Coloproctology
https://www.readbyqxmd.com/read/29650765/prospective-cardiovascular-genetics-evaluation-in-spontaneous-coronary-artery-dissection
#6
M Ihsan Kaadan, Carolyn MacDonald, Francesca Ponzini, Jessica Duran, Kelsey Newell, Linda Pitler, Angela Lin, Ido Weinberg, Malissa J Wood, Mark E Lindsay
BACKGROUND: Previous studies describing genetics evaluation in spontaneous coronary artery dissection (SCAD) have been retrospective in nature or presented as single case reports. As part of a dedicated clinical program, we evaluated patients in cardiovascular genetics clinic to determine the role of genetically triggered vascular disease and genetic testing in SCAD. METHODS AND RESULTS: Patient data were entered prospectively into the Massachusetts General Hospital SCAD registry database from July 2013 to September 2017...
April 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29623224/spinal-anaesthesia-for-cesarean-section-in-a-patient-with-vascular-type-ehlers-danlos-syndrome
#7
Jeffrey M Carness, Mark J Lenart
We report the administration of spinal anaesthesia for cesarean delivery in a parturient with vascular Ehlers-Danlos syndrome. Parturients who genetically inherit this disorder are at risk for significant morbidity and mortality. Risks during pregnancy include premature labor, uterine prolapse, and uterine rupture. Additionally, such laboring parturients are at increased risk of hemodynamic volatility, vascular stress, and severe postpartum hemorrhage. Instrumented delivery and cesarean delivery bring additional risks...
2018: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/29587413/multifaced-roles-of-the-%C3%AE-v%C3%AE-3-integrin-in-ehlers-danlos-and-arterial-tortuosity-syndromes-dermal-fibroblasts
#8
REVIEW
Nicoletta Zoppi, Nicola Chiarelli, Marco Ritelli, Marina Colombi
The αvβ3 integrin, an endothelial cells' receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved in the epithelial mesenchymal transition. In vitro-grown human control fibroblasts organize a fibrillar network of FN, which is preferentially bound on the entire cell surface to its canonical α5β1 integrin receptor, whereas the αvβ3 integrin is present only in rare patches in focal contacts...
March 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29551664/type-iii-collagen-affects-dermal-and-vascular-collagen-fibrillogenesis-and-tissue-integrity-in-a-mutant-col3a1-transgenic-mouse-model
#9
Sanne D'hondt, Brecht Guillemyn, Delfien Syx, Sofie Symoens, Riet De Rycke, Leen Vanhoutte, Wendy Toussaint, Bart N Lambrecht, Anne De Paepe, Douglas R Keene, Yoshihiro Ishikawa, Hans Peter Bächinger, Sophie Janssens, Mathieu J M Bertrand, Fransiska Malfait
Type III collagen is a major fibrillar collagen consisting of three identical α1 (III)-chains that is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial wall. Heterozygous mutations in the COL3A1 gene result in vascular Ehlers-Danlos syndrome (vEDS), a severe, life-threatening disorder, characterized by thin, translucent skin and propensity to arterial, intestinal and uterine rupture. Most human vEDS cases result from a missense mutation substituting a crucial glycine residue in the triple helical domain of the α1 (III)-chains...
March 15, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29510914/testing-patterns-for-genetically-triggered-aortic-and-arterial-aneurysms-and-dissections-at-an-academic-center
#10
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/29381997/vascular-ehlers-danlos-syndrome-with-cryptorchidism-recurrent-pneumothorax-and-pulmonary-capillary-hemangiomatosis-like-foci-a-case-report
#11
Min A Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29381979/multiple-arterial-thromboses-due-to-cystic-medial-degeneration-erdheim-gsell-a-case-report
#12
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/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#13
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
https://www.readbyqxmd.com/read/29328753/a-critical-analysis-of-the-perioperative-management-of-patients-with-ehlers-danlos-type-iv-vascular-syndrome
#14
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
https://www.readbyqxmd.com/read/29323927/pulmonary-fibrous-nodule-with-ossifications-may-indicate-vascular-ehlers-danlos-syndrome-with-missense-mutation-in-col3a1
#15
Sabina Berezowska, Andreas Christe, Deborah Bartholdi, Markus Koch, Christophe von Garnier
No abstract text is available yet for this article.
March 1, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29216800/vascular-ehlers-danlos-syndrome-with-a-novel-missense-col3a1-mutation-present-with-pulmonary-complications-and-iliac-arterial-dissection
#16
REVIEW
Guangchao Gu, Hang Yang, Lijia Cui, Yuanyuan Fu, Fangda Li, Zhou Zhou, Yuehong Zheng
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him...
February 2018: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29206923/vascular-abnormalities-in-the-placenta-of-chst14-fetuses-implications-in-the-pathophysiology-of-perinatal-lethality-of-the-murine-model-and-vascular-lesions-in-human-chst14-d4st1-deficiency
#17
Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin'ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, Tomoki Kosho
Collagen is one of the most important components of the extracellular matrix that is involved in the strength of tissues, cell adhesion and cell proliferation. Mutations in several collagen and post-translational modification enzyme genes cause Ehlers-Danlos syndrome (EDS) characterized by joint and skin hyperextensibility as well as fragility of various organs. Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) is a critical enzyme for biosynthesis of dermatan sulfate, a side chain of various proteoglycans including biglycan that regulates collagen fibrils through their interaction...
February 1, 2018: Glycobiology
https://www.readbyqxmd.com/read/29121166/characteristics-diagnosis-and-management-of-ehlers-danlos-syndromes-a-review
#18
Andrew W Joseph, Shannon S Joseph, Clair A Francomano, Theda C Kontis
Importance: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature...
January 1, 2018: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/29050841/hemothorax-in-vascular-ehlers-danlos-syndrome
#19
Kevin Álvarez, López Jordi, Hernández Jose Angel
Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs. A high level of clinical suspicion is required for diagnosis. It is a complex disease whose management requires a multidisciplinary team to treat the different complications that may occur...
October 16, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#20
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
December 2017: Annales de Dermatologie et de Vénéréologie
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