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Ehlers danlos

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https://www.readbyqxmd.com/read/28077691/establishment-and-baseline-characteristics-of-a-nationwide-danish-cohort-of-patients-with-ehlers-danlos-syndrome
#1
Marie-Louise Kulas Søborg, Julie Leganger, Laura Quitzau Mortensen, Jacob Rosenberg, Jakob Burcharth
OBJECTIVES: The aim of this study was to investigate national prevalence, general demographic characteristics and survival of Danish patients with Ehlers-Danlos syndrome (EDS). METHOD: A population-based cohort study was conducted using a database consisting of the entire Danish population alive at any given time between 1 January 2000 and 31 December 2012, based upon longitudinal Danish national registers. All patients with EDS were identified, and the cohort was described by disease prevalence, basic demographic characteristics, mean age at death and mortality for the observational period of 13 years...
January 11, 2017: Rheumatology
https://www.readbyqxmd.com/read/28073822/obstructive-sleep-apnoea-and-quality-of-life-in-ehlers-danlos-syndrome-a-parallel-cohort-study
#2
Thomas Gaisl, Cecilia Giunta, Daniel J Bratton, Kate Sutherland, Christian Schlatzer, Noriane Sievi, Daniel Franzen, Peter A Cistulli, Marianne Rohrbach, Malcolm Kohler
BACKGROUND: Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear. METHODS: In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height...
January 10, 2017: Thorax
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#3
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28051109/ehlers-danlos-syndrome-hypermobility-type-is-associated-with-rheumatic-diseases
#4
Kyla R Rodgers, Jiang Gui, Mary Beth P Dinulos, Richard C Chou
We retrospectively analyzed electronic medical records of patients with Ehlers-Danlos Syndrome hypermobility type (HEDS), including demographic information, workup, rheumatological diagnoses in order to determine its association with rheumatological conditions. HEDS Patients were stratified according to level of workup received (no additional work (physical exam only) = NWU, limited workup = LWU, comprehensive workup = CWU)). HEDS patients were predominantly female (21:4, F:M). The percentage of patients with at least one rheumatological condition was significantly correlated with level of workup (NWU, 9...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28035354/identification-of-a-missense-mutation-of-col3a1-in-a-chinese-family-with-atypical-ehlers-danlos-syndrome-using-targeted-next-generation-sequencing
#5
Wenwen Zhang, Qian Han, Min Zhou, Feng Ran, Tong Qiao, Long Yi, Changjian Liu, Zhao Liu
Aortopathy represents an important cause of mortality in industrialized countries, with a number of genes identified as predispose factors. It can be difficult to identify the genetic lesions underlying this disorder, particularly when the phenotype is atypical. The present study performed targeted next‑generation sequencing of 428 genes associated with cardiovascular diseases in a family with aortopathy, the proband of which presented with abdominal aortic aneurysm rupture only, with tissue fragility noted in surgery...
December 29, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27990838/multiple-perforation-of-small-intestine-diverticula-in-a-patient-with-ehlers-danlos-syndrome
#6
Raúl Honrubia Lopez, Aurora Burgos García, Elena Palacios Lázaro
Ehlers-Danlos syndrome represents a group of hereditary connective tissue disorders characterized by ligamentous hyperlaxity, fragile skin and joint hypermobility. Gastrointestinal complications in this syndrome are less well known.
December 19, 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27973938/anesthetic-management-of-a-patient-with-ehlers-danlos-syndrome
#7
Naohiro Ohshita, Masahiko Kanazumi, Kaname Tsuji, Hiroaki Yoshida, Shosuke Morita, Yoshihiro Momota, Yasuo M Tsutsumi
We describe the case of a 37-year-old woman who had been diagnosed with Ehlers-Danlos syndrome (EDS) 4 years earlier and was scheduled to undergo removal of synovial chondromatosis in the temporomandibular joint. EDS is a heritable connective tissue disorder and has 6 types. In this case, the patient was classified into EDS hypermobility type. The major clinical feature of this type is joint hypermobility. The patient had sprain or subluxation of the elbows and ankles and dislocation of the knees. Anticipated problems during general anesthesia would be affected by the disease type...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27931023/increased-need-for-gastrointestinal-surgery-and-increased-risk-of-surgery-related-complications-in-patients-with-ehlers-danlos-syndrome-a-systematic-review
#8
Marie-Louise Kulas Søborg, Julie Leganger, Jacob Rosenberg, Jakob Burcharth
BACKGROUND/AIMS: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. METHODS: A systematic search was conducted in PubMed, Embase, and Scopus to identify relevant studies...
December 9, 2016: Digestive Surgery
https://www.readbyqxmd.com/read/27931013/the-influence-of-ehlers-danlos-syndrome-hypermobility-type-on-motherhood-a-phenomenological-hermeneutical-study
#9
Stijn De Baets, Marieke Vanhalst, Marieke Coussens, Lies Rombaut, Fransiska Malfait, Geert Van Hove, Patrick Calders, Guy Vanderstraeten, Dominique van de Velde
BACKGROUND: The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. METHOD: A phenomenological-hermeneutical study, using in-depth interviews...
January 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#10
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27905201/the-symptom-matrix-using-a-formalism-based-approach-to-address-complex-syndromes-systematically
#11
Jennifer D Skillen
Complex rheumatological syndromes such as Systemic lupus erythematosus, Sjogren's Syndrome and many connective tissue disorders can be a challenge to classify and diagnose, due to their wide-ranging signs and symptoms, not all of which will necessarily be present in all patients. This can result in difficulties for the clinician, patient and researcher if signs and symptoms are either overlooked or are incorrectly included in the nosology or classification of diseases. This article presents a formalism-based approach to describing syndromes...
December 1, 2016: Musculoskeletal Care
https://www.readbyqxmd.com/read/27905128/ehlers-danlos-syndrome-related-to-fkbp14-mutations-detailed-cutaneous-phenotype
#12
A C Bursztejn, M Baumann, D Lipsker
In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported. Because one of the major affected tissues in ED syndrome is the skin, recognition of the cutaneous features of this newly recognized EDS variant is important. We describe the cutaneous phenotype of an adolescent girl harbouring the recurrent homozygous FKBP14 mutation...
January 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27874893/abnormal-wound-healing-related-to-high-dose-systemic-corticosteroid-therapy-in-a-patient-with-ehlers-danlos-syndrome-benign-hypermobility-type
#13
Stephanie K Jacks, Matthew J Zirwas
The adverse impact of chronic corticosteroid therapy on wound healing has been well characterized, as has abnormal wound healing known to occur in the classic type of Ehlers-Danlos syndrome (EDS). In contrast, abnormal wound healing is absent in cases of EDS benign hypermobility type (EDS-BHT). We present the case of a patient with EDS-BHT with no history of abnormal wound healing who developed large nonhealing ulcers to sites of minor trauma after initiating therapy with high-dose systemic corticosteroids for dermatomyositis...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27852496/effect-of-preoperative-indications-conference-on-procedural-planning-for-treatment-of-scoliosis
#14
Charles M Chan, Hasani W Swindell, Hiroko Matsumoto, Howard Y Park, Joshua E Hyman, Michael G Vitale, David P Roye, Benjamin D Roye
STUDY DESIGN: This study determines the rate of change in the scoliosis surgery plan in cases presented in preoperative indications conference. OBJECTIVES: To determine the effect of preoperative indications conference on the plan of surgery and to identify characteristics that increased the likelihood of change. SUMMARY OF BACKGROUND DATA: Preoperative indications conferences are used as a teaching and planning tool. Levels of fusion, construct options, and necessity for osteotomies are often debated in the planning of scoliosis surgery...
January 2016: Spine Deformity
https://www.readbyqxmd.com/read/27852077/koolen-de-vries-syndrome-clinical-report-of-an-adult-and-literature-review
#15
Claudia Ciaccio, Chiara Dordoni, Marco Ritelli, Marina Colombi
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27844027/prosthetic-valve-endocarditis-caused-by-bartonella-henselae-a-case-report-of-molecular-diagnostics-informing-nonsurgical-management
#16
Patricia Bartley, Emmanouil Angelakis, Didier Raoult, Rangarajan Sampath, Robert A Bonomo, Robin L P Jump
Identifying the pathogen responsible for culture-negative valve endocarditis often depends on molecular studies performed on surgical specimens. A patient with Ehlers-Danlos syndrome who had an aortic graft, a mechanical aortic valve, and a mitral anulloplasty ring presented with culture-negative prosthetic valve endocarditis and aortic graft infection. Research-based polymerase chain reaction (PCR)/electrospray ionization mass spectrometry on peripheral blood samples identified Bartonella henselae. Quantitative PCR targeting the16S-23S ribonucleic acid intergenic region and Western immunoblotting confirmed this result...
October 2016: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/27826465/collagenopathies-implications-for-abdominal-wall-reconstruction-a-systematic-review
#17
Bridget Harrison, Kyle Sanniec, Jeffrey E Janis
BACKGROUND: The etiology of hernia formation is strongly debated and includes mechanical strain, prior surgical intervention, abnormal embryologic development, and increased intraabdominal pressure. Although the most common inciting cause in ventral hernias is previous abdominal surgery, many other factors contribute. We explore this etiology through an examination of the current literature and existing evidence on patients with collagen vascular diseases, such as Ehlers-Danlos syndrome...
October 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27824552/ehlers-danlos-syndrome-hypermobility-type-a-much-neglected-multisystemic-disorder
#18
REVIEW
Yael Gazit, Giris Jacob, Rodney Grahame
Ehlers-Danlos syndrome (EDS)-hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints...
October 31, 2016: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/27802895/a-connective-tissue-disorder-may-underlie-essence-problems-in-childhood
#19
REVIEW
Carolina Baeza-Velasco, Rodney Grahame, Jaime F Bravo
BACKGROUND: Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of "ESSENCE" (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children...
January 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27799058/next-generation-sequencing-and-a-novel-col3a1-mutation-associated-with-vascular-ehlers-danlos-syndrome-with-severe-intestinal-involvement-a-case-report
#20
Francesca Cortini, Barbara Marinelli, Manuela Seia, Barbara De Giorgio, Angela Cecilia Pesatori, Nicola Montano, Alessandra Bassotti
BACKGROUND: The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments. CASE PRESENTATION: We present a case of a 38-year-old Italian woman who was diagnosed as having the vascular type of Ehlers-Danlos syndrome...
October 31, 2016: Journal of Medical Case Reports
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