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Ehler's Danlos

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https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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.
April 23, 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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/29609717/sleep-disorders-and-their-management-in-children-with-ehlers-danlos-syndrome-referred-to-sleep-clinics
#14
Keren Armoni Domany, Sumalee Hantragool, David F Smith, Yuanfang Xu, Monir Hossain, Narong Simakajornboon
STUDY OBJECTIVES: The nature of sleep disorders in children with Ehlers-Danlos syndrome (EDS) is unknown. We aimed to describe the type, the management, and the short-term outcome of sleep disorders in children with EDS referred to sleep clinics. METHODS: This is a retrospective review of medical records and polysomnography tests of children with EDS younger than 18 years who were referred to the sleep clinic. Demographic information and medical history were collected, and polysomnography tests were reviewed...
March 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29606302/bi-allelic-alterations-in-aebp1-lead-to-defective-collagen-assembly-and-connective-tissue-structure-resulting-in-a-variant-of-ehlers-danlos-syndrome
#15
Patrick R Blackburn, Zhi Xu, Kathleen E Tumelty, Rose W Zhao, William J Monis, Kimberly G Harris, Jennifer M Gass, Margot A Cousin, Nicole J Boczek, Mario V Mitkov, Mark A Cappel, Clair A Francomano, Joseph E Parisi, Eric W Klee, Eissa Faqeih, Fowzan S Alkuraya, Matthew D Layne, Nazli B McDonnell, Paldeep S Atwal
AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1-/- mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. In this study, we describe four individuals from three unrelated families that presented with a unique constellation of clinical findings including joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features reminiscent of Ehlers-Danlos syndrome (EDS)...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29593477/novel-nonsense-mutation-in-slc39a13-initially-presenting-as-myopathy-case-report-and-review-of-the-literature
#16
Maja Dusanic, Gabriele Dekomien, Thomas Lücke, Matthias Vorgerd, Joachim Weis, Joerg T Epplen, Cornelia Köhler, Sabine Hoffjan
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings...
February 2018: Molecular Syndromology
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
#17
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/29572364/testicular-torsion-in-a-patient-with-ehlers-danlos-syndrome
#18
Amy Lee Fowler, David Bouchier Hayes, Eszter Feher
We present a 19-year-old man with a diagnosis of Ehlers-Danlos syndrome (EDS) and a delayed presentation of testicular torsion. EDS is a rare and heterogeneous condition affecting collagen synthesis and presents multiple difficulties in a surgical setting. Management of this case of testicular torsion was complicated by impaired cognition of the patient, difficulty with intubation, a contralateral undescended testis and postoperative bleeding. We discuss the specific challenges faced in this case of testicular torsion with longstanding ischaemia and perioperative considerations of EDS...
March 22, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29563392/morphometric-analysis-of-cornea-in-the-slc39a13-zip13-knockout-mice
#19
Takuya Hirose, Ippei Suzuki, Naoki Takahashi, Toshiyuki Fukada, Prasarn Tangkawattana, Kazushige Takehana
Ehlers-Danlos syndrome (EDS) is a group of hereditary diseases caused by mutation of extracellular matrix-related genes. Recently, spondylodysplastic EDS-Zip13 (spEDS-Zip13: OMIM 612350) was recognized as a new EDS type. This current study could reveal various morphometric differences of collagenous population in the proper substance of cornea between the wild type and spEDS-Zip13-knockout (Zip13-KO) mice. Blockade of Smad-signaling pathway might initiate these alterations. Predilected dissimilarity in level of transcriptional activity probably dictated morphology of keratocyte and shape and electron density of its nucleus...
March 22, 2018: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29562607/a-cohort-study-comparing-women-with-autism-spectrum-disorder-with-and-without-generalized-joint-hypermobility
#20
Emily L Casanova, Julia L Sharp, Stephen M Edelson, Desmond P Kelly, Manuel F Casanova
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey...
March 17, 2018: Behavioral Sciences
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