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Ehlers-Danlos syndrome

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https://www.readbyqxmd.com/read/29909001/-postural-tachycardia-syndrome-pots-an-up-to-date
#1
L Astudillo, A Laure, V Fabry, G Pugnet, P Maury, M Labrunée, L Sailler, A Pavy-Le Traon
Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. This syndrome can be explained by many pathophysiological mechanisms. It can be associated with Ehlers-Danlos disease and some autoimmune disorders...
June 13, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29891041/spectrum-of-gastrointestinal-manifestations-in-joint-hypermobility-syndromes
#2
REVIEW
Gehan Botrus, Omar Baker, Erica Borrego, Kyari Sumayin Ngamdu, Mohamed Teleb, Jose L Gonzales Martinez, Gerardo Maldonado, Ahmed M Hussein, Richard McCallum
Joint hypermobility is a common, primarily benign finding in the general population. However, in a subset of individuals joint hypermobility causes a range of clinical problems mainly affecting the musculoskeletal system and, to a lesser extent, extra-articular disorders. Joint hypermobility often appears as a familial trait and is shared by several inherited connective tissue disorders, including the hypermobility subtype of Ehlers-Danlos syndrome (hEDS) and benign joint hypermobility syndrome (BJHS/JHS). Although joint hypermobility has primarily been thought of as a rheumatological disorder, increasing evidence shows significant associations between both hEDS and BJHS with specific extra-articular disorders...
June 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29888804/hepatobiliary-and-pancreatic-spontaneous-hepatic-hemorrhage-caused-by-ehlers-danlos-syndrome
#3
Q Luo, Z Pang, C Liu, X Liu
No abstract text is available yet for this article.
June 11, 2018: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29883307/thoracic-aortic-aneurysm-how-to-counsel-when-to-refer
#4
REVIEW
Frank Cikach, Milind Y Desai, Eric E Roselli, Vidyasagar Kalahasti
Thoracic aortic aneurysm (TAA) is usually clinically silent and progresses slowly until a tipping point is reached, after which the aortic diameter can expand more rapidly and the condition can potentially end in aortic dissection or rupture. Causes include bicuspid aortic valve and genetic syndromes (Marfan, Loeys-Dietz, and Ehlers-Danlos syndromes) and familial associations, but many cases are idiopathic. Clinicians should therefore be alert for clues on chest imaging, and consider screening in first-degree relatives of patients known to have aortic disease...
June 2018: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/29880626/-campylobacter-jejuni-and-pseudomonas-coinfection-in-the-setting-of-ulcerative-colitis
#5
John Paul Iguidbashian, Jai D Parekh, Shweta Kukrety, Venkata Giri Andukuri
A 66-year-old woman presented with 2 days of fever and severe diarrhoea. She has a history of ulcerative colitis (UC), well controlled with medication. She also has a history of Ehlers-Danlos syndrome, infective endocarditis following aortic valve replacement and pulmonary embolism. She had complained of passing stool with traces of blood about 30 times per day. Stool testing for Clostridium difficile, routine culture and microscopy was done. She was started on ceftriaxone. CT scan revealed thick-walled colon consistent with UC flare...
June 6, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29868432/arthroscopic-anterior-and-posterior-glenoid-bone-augmentation-with-capsular-plication-for-ehlers-danlos-syndrome-with-multidirectional-instability
#6
Mitchel D Armstrong, Benjamin Smith, Catherine Coady, Ivan H Wong
Recurrent multidirectional shoulder instability is a difficult clinical problem. This can be compounded in patients with connective tissue diseases such as Ehlers-Danlos syndrome. We present an all-arthroscopic technique involving extra-articular anterior and posterior glenoid bone grafting to augment a capsular repair in a patient with Ehlers-Danlos syndrome and recurrent multidirectional shoulder instability. Graft options include either distal tibial allograft or iliac crest autograft. Anterior graft placement uses a dilated far medial portal using an inside-out technique...
May 2018: Arthroscopy Techniques
https://www.readbyqxmd.com/read/29778910/a-case-of-vascular-ehlers-danlos-syndrome-with-a-cardiomyopathy-and-multi-system-involvement
#7
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...
July 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#8
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#9
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29725758/ex-vivo-nonlinear-microscopy-imaging-of-ehlers-danlos-syndrome-affected-skin
#10
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
#11
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/29703000/rheumatological-presentation-of-bartonella-koehlerae-and-bartonella-henselae-bacteremias-a-case-report
#12
Bobak Robert Mozayeni, Ricardo Guillermo Maggi, Julie Meredith Bradley, Edward Bealmear Breitschwerdt
INTRODUCTION: Systemic Bartonella spp. infections are being increasingly reported in association with complex medical presentations. Individuals with frequent arthropod exposures or animal contact appear to be at risk for acquiring long standing infections with Bartonella spp. CASE REPORT: This case report describes infections with Bartonella koehlerae and Bartonella henselae in a female veterinarian whose symptoms were predominantly rheumatologic in nature. Infection was confirmed by serology, polymerase chain reaction (PCR), enrichment blood culture, and DNA sequencing of amplified B koehlerae and B henselae DNA...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29700788/vascular-ehlers-danlos-syndrome-presenting-as-a-pulsatile-neck-mass-a-case-report-and-review-of-literature
#13
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
#14
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/29687491/repair-of-an-aneurysm-of-the-ascending-aorta-and-arch-in-an-infant-with-loeys-dietz-syndrome
#15
Pratiksha Jaiswal, Varun Shetty, Ebrahim Patel, Deviprasad Shetty
Aortic aneurysms in childhood are rare disease entities and are usually seen in patients with genetic connective tissue disorders such as Marfans, Ehler-Danlos, and Loeys-Dietz syndrome (LDS). Patients affected with LDS present early in life and have a rapid disease progression. We report a case of repair of an ascending and aortic arch aneurysm in an infant with Loeys-Dietz syndrome.
May 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29666082/knee-joint-instability-after-total-knee-replacement-in-a-patient-with-ehlers-danlos-syndrome-the-role-of-insert-changes-as-practical-solution
#16
Ajmal Farid, Stefan Beekhuizen, Joris van der Lugt, Marijn Rutgers
Treatment of knee joint instability in patients with hypermobile Ehlers-Danlos syndrome (EDS) can be challenging. A 53-year-old woman with hypermobile EDS underwent bilateral total knee replacement (TKR) due to valgus osteoarthritis. During follow-up, she developed hypermobility of both knee replacements. Revision of the insert resolved the issue in her left knee; however, the right TKR required two insert exchanges and unfortunately instability persisted. Therefore, a revision to a constrained prosthesis was performed...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29650765/prospective-cardiovascular-genetics-evaluation-in-spontaneous-coronary-artery-dissection
#17
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/29623400/biomechanical-properties-of-the-patellar-tendon-in-children-with-heritable-connective-tissue-disorders
#18
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/29623224/spinal-anaesthesia-for-cesarean-section-in-a-patient-with-vascular-type-ehlers-danlos-syndrome
#19
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/29611032/thoracoabdominal-aortic-replacement-in-patients-aged-50-and-younger
#20
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
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