Bibliografias temáticas / Ehlers-Danlos syndrome type VIA

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Literatura científica selecionada sobre o tema "Ehlers-Danlos syndrome type VIA"

Autor: Grafiati

Publicado: 4 de junho de 2021

Última modificação: 8 de fevereiro de 2022

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Artigos de revistas sobre o assunto "Ehlers-Danlos syndrome type VIA"

Amin, Ruchi, and Brett H. Waibel. "Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome." Case Reports in Surgery 2017 (2017): 1–3. http://dx.doi.org/10.1155/2017/2081725.

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Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective t

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Zhao, Xin, Liming Tan, Li Yang, and Harrison X. Bai. "Is Vascular Fragility a Significant Concern in Ehlers-Danlos Syndrome Type VIA?" Pediatric Neurology 52, no. 4 (2015): e3-e4. http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.031.

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Giunta, Cecilia, Ann Randolph, Lihadh I. Al-Gazali, Han G. Brunner, Marius E. Kraenzlin, and Beat Steinmann. "Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)." American Journal of Medical Genetics Part A 133A, no. 2 (2005): 158–64. http://dx.doi.org/10.1002/ajmg.a.30529.

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Desai, Sapan S., Maria Codreanu, Kristofer M. Charlton-Ouw, Hazim Safi, and Ali Azizzadeh. "Endovascular repair of a ruptured subclavian artery aneurysm in a patient with Ehlers–Danlos syndrome using a sandwich technique." Vascular 22, no. 5 (2014): 371–74. http://dx.doi.org/10.1177/1708538113516319.

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We present the case of a type IV Ehlers–Danlos syndrome patient with a ruptured right subclavian artery aneurysm and associated arteriovenous fistula who underwent successful endovascular repair requiring simultaneous stent graft repair of the innominate artery using a sandwich technique. A 17-year-old man with known type IV Ehlers–Danlos syndrome developed right neck and shoulder swelling. CTA study demonstrated a 17 × 13-cm ruptured subclavian artery aneurysm with an associated internal jugular vein arteriovenous fistula. In the hybrid suite, a 7 mm × 15-cm stent graft (Viabahn, WL Gore &amp

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Tosun, Ayşe, Serkan Kurtgoz, Siar Dursun, and Gokay Bozkurt. "A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation." Pediatric Neurology 51, no. 4 (2014): 566–69. http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.020.

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Tosun, A., S. Kurtgoz, S. Dursun, and E. Keskin. "P234 – 2113 A case of Ehlers-Danlos syndrome type VIA with novel PLOD1 gene mutation." European Journal of Paediatric Neurology 17 (September 2013): S117—S118. http://dx.doi.org/10.1016/s1090-3798(13)70413-6.

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Ishikawa, Satoko, Tomoki Kosho, Tomoko Kaminaga, et al. "Endoplasmic reticulum stress and collagenous formation anomalies in vascular‐type Ehlers–Danlos syndrome via electron microscopy." Journal of Dermatology 48, no. 4 (2021): 481–85. http://dx.doi.org/10.1111/1346-8138.15766.

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Rohrbach, Marianne, Anthony Vandersteen, Uluç Yiş, et al. "Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation." Orphanet Journal of Rare Diseases 6, no. 1 (2011): 46. http://dx.doi.org/10.1186/1750-1172-6-46.

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Abdalla, Ebtesam M., Marianne Rohrbach, Céline Bürer, et al. "Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype." European Journal of Pediatrics 174, no. 1 (2014): 105–12. http://dx.doi.org/10.1007/s00431-014-2429-9.

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Ritelli, Cinquina, Giacopuzzi, Venturini, Chiarelli, and Colombi. "Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes." Genes 10, no. 9 (2019): 631. http://dx.doi.org/10.3390/genes10090631.

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The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactos

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Teses / dissertações sobre o assunto "Ehlers-Danlos syndrome type VIA"

Hyry, M. (Marjo). "Lysyl hydroxylases 1 and 2:characterization of their in vivo roles in mouse and the molecular level consequences of the lysyl hydroxylase 2 mutations found in Bruck syndrome." Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789514298424.

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Abstract The extracellular matrix is not just a scaffold for cells and tissues, but rather a dynamic part of the human body. Characteristics of collagens, the major protein components of the extracellular matrix, are determined already during synthesis and mutations in genes encoding collagens, unbalance of regulators or dysfunction of collagen modifying enzymes, for instance, can lead to severe clinical complications. Certain hydroxylysine residues formed by lysyl hydroxylases (LHs) function in collagens as precursors of collagen cross-links that stabilize collagenous structures and thereby t

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Quinlan, Megan. "Survey Validation for Screening of Hypermobile Ehlers-Danlos Syndrome." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1522319822929072.

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Mirault, Tristan. "Aspects physiopathologiques du syndrome d'Ehlers-Danlos vasculaire." Thesis, Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCB128/document.

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Le syndrome d'Ehlers-Danlos (SEDv) est une maladie artérielle génétique autosomique dominante, affectant le collagène de type III au sein de la matrice extracellulaire de la paroi artérielle notamment. Les patients atteints de SEDv ont une prédisposition aux ruptures artérielles, digestives et utérines qui font toute la sévérité de cette maladie. Les mutations du gène COL3A1 codant pour le collagène de type III sont le plus souvent des mutations hétérozygotes faux-sens, responsables de la substitution d'une glycine par un autre acide aminé, affectant la structure en triple hélice du collagène

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Pousi, B. (Birgitta). "Mutations in the gene of lysyl hydroxylase of patients with Ehlers-Danlos syndrome type VI." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514253175.

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Abstract Lysyl hydroxylase (EC 1.14.11.4, procollagen-lysine 2-oxoglutarate 5-dioxygenase, PLOD) catalyses the formation of hydroxylysine in collagens and in the other collagen like proteins. Hydroxylysine participates in the formation of cross-links between collagen molecules and can bind to the carbohydrates, galactose and glucosylgalactose. Patients with the type VIA Ehlers-Danlos syndrome (EDS) have characteristically a deficiency in hydroxylysine of collagen in their skin that is caused by reduced activity of lysyl hydroxylase 1. In this work the mutations were studied in detail in four d

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Goldstein, Jayne A. "Novel mutations of COL3A1 resulting in Ehlers-Danlos syndrome type IV and their effect on the folding of type III procollagen /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/6316.

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Cabanacq, S. "A propos d'une observation associant une maladie d'Ehlers-Danlos de type III et une dysplasie fibreuse de la base du crâne." Bordeaux 2, 1990. http://www.theses.fr/1990BOR25220.

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Reinert, Caitlin R. "Pilot Study of Attention Deficit Hyperactivity Disorder-related Behaviors in a Pediatric Ehlers-Danlos Syndrome-Hypermobility type Population." University of Cincinnati / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427796903.

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Ritter, Alyssa. "Prevalence and Natural History of Aortic Root Dilation in a Longitudinal Cohort of Patients with Ehlers-Danlos Syndrome Hypermobility Type." University of Cincinnati / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458299222.

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Barfiwala, Kanchi N. "The Association of Functional Disability and Pain Catastrophizing with Healthcare Utilization among Individuals with Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT)." University of Cincinnati / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528780.

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Bendik, Elise. "Joint Hypermobility Syndrome: A Common Clinical Disorder Associated with Migraine Headache in Women." University of Cincinnati / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1282579694.

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Livros sobre o assunto "Ehlers-Danlos syndrome type VIA"

Tinkle, Brad T. Issues and management of joint hypermobility: A guide for the Ehlers-Danlos syndrome hypermobility type and the hypermobility syndrome. Left Paw Press, 2008.

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Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0005.

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Collagen – Ainhum – Amniotic Bands – Buschke-Ollendorff Syndrome – Dermatosparaxis – Ehlers-Danlos Syndromes – Ehlers-Danlos Types I, II, and III – Ehlers-Danlos Type IV – Ehlers-Danlos Type VI – Ehlers-Danlos Type VIII – Reactive Perforating Collagenosis – Elastin – Costello Syndrome – Cutis Laxa – Pseudoxanthoma Elasticum – Vascular – Ataxia Telangiectasia – Blue Rubber Bleb Nevus Syndrome – Cutis Marmorata Telangiectatica Congenita – Fabry Syndrome – Familial Flame Nevi – Hereditary Glomus Tumors – Hereditary Hemorrhagic Telangiectasia – Klippel-Trenaunay-Weber Syndrome – Maffucci Syndrome

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Sybert, Virginia P. Disorders of the Dermis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0005.

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Chapter 5 covers Collagen disorders (Ainhum, Amniotic Bands, Buschke-Ollendorff Syndrome, Dermatosparaxis), Ehlers-Danlos Syndromes (Ehlers-Danlos Types I, II, and III, Ehlers-Danlos Type IV, Ehlers-Danlos Type VI, Ehlers-Danlos Type VIII, and Reactive Perforating Collagenosis), Elastin (Costello Syndrome, Cutis Laxa, and Pseudoxanthoma Elasticum), Vascular disorders (Ataxia Telangiectasia, Cutis Marmorata Telangiectatica Congenita, Fabry Syndrome, Familial Flame Nevi, Hereditary Glomus Tumors, Hereditary Hemorrhagic Telangiectasia, Klippel-Trenaunay-Weber Syndrome, Maffucci Syndrome, and Stur

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Tinkle, Brad T. Joint Hypermobility Handbook- A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome. Left Paw Press, LLC, 2010.

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Price, Susan. Genetic bone and joint disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0276.

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Genetic conditions affecting the skeleton and supporting structures are individually rare and heterogeneous. This chapter presents an approach to assessing patients with suspected skeletal dysplasia, osteogenesis imperfecta, Marfan syndrome, and Ehlers–Danlos syndrome. Skeletal dysplasias are caused by abnormalities of bone growth and modelling; the commonest non-lethal type is achondroplasia, with an incidence of 1/10 000 to 1/30 000. The typical presentation of osteogenesis imperfecta is with multiple fractures, sometimes prenatally. There may be associated short stature, bone deformity, den

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Hakim, Alan J., and Rodney Grahame. Hypermobility syndromes. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0159.

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Capítulos de livros sobre o assunto "Ehlers-Danlos syndrome type VIA"

Zakko, Liam. "Ehlers–Danlos Syndrome Type IV (Vascular): Gastrointestinal Features." In Atlas of Dermatological Manifestations of Gastrointestinal Disease. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6191-3_29.

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Zakko, Liam, Justin Finch, Marti J. Rothe, and Jane M. Grant-Kels. "Ehlers–Danlos Syndrome Type IV (Vascular): Dermatological Features." In Atlas of Dermatological Manifestations of Gastrointestinal Disease. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6191-3_30.

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Janecke, Andreas R. "CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb–Clubfoot Syndrome)." In Epstein's Inborn Errors of Development. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0209.

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"EDS VI: Kyphoscoliotic Type, Ocular-Scoliotic Type, Nevo Syndrome, Brittle Cornea Syndrome (Variant of Ehlers-Danlos Type VI)." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_100576.

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Giunta, Cecilia, and Beat Steinmann. "Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders." In Osteogenesis Imperfecta. Elsevier, 2014. http://dx.doi.org/10.1016/b978-0-12-397165-4.00023-x.

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Hawkes, Christopher H., Kapil D. Sethi, and Thomas R. Swift. "First Encounters." In Instant Neurological Diagnosis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199361953.003.0001.

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This chapter describes disorders that can be diagnosed as the patient enters the consulting room, and how the patient turns to close the door, walks toward the clinician and shakes the clinician’s hand. Much information is gleaned by inspecting the face, clothes, fingernails, and jewelry or listening to the voice and smelling the breath. The clinician works as a bedside Sherlock Holmes. Some of the symptoms addressed in this chapter include hypersalivation, Horner's syndrome, and macroglossia. Individual disorders described include idiopathic intracranial hypertension, neurofibromatosis type 1, Sturge-Weber syndrome, Waardenburg syndrome, Vogt Harada Koyanagi syndrome, Fabry’s disease, fragile X syndrome, relapsing polychondritis, myasthenia gravis, Ehlers Danlos Syndrome type IV, Carney complex, cocaine and meth addiction, and ankylosing spondylitis, among others.

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Hakim, Alan J., and Rodney Grahame. "Hypermobility syndromes." In Oxford Textbook of Rheumatology. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0159_update_003.

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Hypermobility-related syndromes constitute a family of heritable disorders of connective tissue (HDCT) that derive from abnormalities affecting genes that encode for the connective tissue matrix proteins such as collagen, fibrillin, and tenascin. They range from such commonplace though poorly recognized conditions such as the joint hypermobility syndrome (JHS) to the better-known, if rarer, eponymous syndromes such as the Marfan syndrome (MFS) and the different types of the Ehlers-Danlos syndrome (EDS). The more common presentations are with skin pathology (bruising, scaring), joint or spinal and/or muscle pain and instability with vulnerability to injury and chronic widespread pain, cardiac valve pathologies, and in MFS and vascular EDS, arterial dilatation with the risk of dissection and rupture. JHS (widely considered synonymous with the EDS hypermobility type) is further complicated by cardiovascular autonomic dysfunction such as orthostatic intolerance, palpitations, and syncope, and the recently described and commonly encountered pan-gastrointestinal dysmotility. The latter can manifest as gastro-oesophageal reflux, gastroparesis, slow-transit constipation, or rectal evacuatory dysfunction with rectal intussusception. In addition, HDCT are associated with bladder and uterine problems as a consequence of pelvic floor weakness. Such multisystemic conditions need to be managed by a multidisciplinary team able to draw on medical, surgical, physical, and psychological interventions by appropriately experienced specialists and therapists. This chapter introduces the reader to the epidemiology, genetics, classification, and clinical presentation of JHS, EDS, and MFS. It also describes the key investigations required to support a diagnosis and assess complications of an HDCT, as well as the multidisciplinary approach to management.

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Trabalhos de conferências sobre o assunto "Ehlers-Danlos syndrome type VIA"

Shah, N., and A. Trimble. "Excessive Dynamic Airway Collapse in a Young Woman with Hypermobility-Type Ehlers-Danlos Syndrome." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a3139.

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Inayet, Nashiz, Jamal Hayat, Maite Tome, Arvind Kaul, Ann Child, and Andrew Poullis. "PWE-136 functional gastrointestinal disorders (FGID) in ehlers danlos type III (hypermobile) and marfan syndrome patients." In British Society of Gastroenterology, Annual General Meeting, 4–7 June 2018, Abstracts. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2018. http://dx.doi.org/10.1136/gutjnl-2018-bsgabstracts.430.

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Bennett, S. E., S. Palmer, N. Walsh, and T. Moss. "THU0718-HPR The psychosocial impact of joint hypermobility syndromeand ehlers-danlos syndrome (HYPERMOBILITY TYPE): a qualitative interview study." In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.2107.

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Takahashi, Mikiko, Shinobu Kunugi, Yasuhiro Terasaki, et al. "The Characteristics Of The Collagen Fibers And The Pathological Diagnostic Significance In The Pulmonary Disease Of Vascular Type Ehlers-Danlos Syndrome." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a2991.

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