Bibliografie tematiche / Ehlers-Danlos

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Letteratura scientifica selezionata sul tema "Ehlers-Danlos"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 4 maggio 2024

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Articoli di riviste sul tema "Ehlers-Danlos"

1

Jayarajan, Senthil N., Brandon D. Downing, Luis A. Sanchez e Jeffrey Jim. "Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome". Vascular 28, n. 6 (19 maggio 2020): 834–41. http://dx.doi.org/10.1177/1708538120925597.

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Objectives Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. Methods The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. Results There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair ( p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days ( p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). Conclusions Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.
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Jones, Jordan T., William R. Black, Christine N. Moser, Eric T. Rush e Lindsey Malloy Walton. "Gender dysphoria in adolescents with Ehlers–Danlos syndrome". SAGE Open Medicine 10 (gennaio 2022): 205031212211460. http://dx.doi.org/10.1177/20503121221146074.

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Abstract (sommario):
Objectives: Ehlers–Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility. Ehlers–Danlos Syndrome presents with clinical sequela across multiple body systems that require multidisciplinary care. Little is known about adolescents with Ehlers–Danlos Syndrome who are transgender and gender diverse. To date, there have been no reports of transgender and gender diverse youth in pediatric patients with Ehlers–Danlos Syndrome. The objective of this study was to characterize transgender and gender diverse adolescents with Ehlers–Danlos Syndrome seen in a pediatric multidisciplinary specialty clinic. Methods: A retrospective chart review was performed and it was found that 28 patients were seen in the Ehlers–Danlos Syndrome multidisciplinary clinic were reported being transgender and gender diverse. Chart review included analysis of all documents in the electronic medical record, including demographic data, gender identity, chosen pronouns, specialty care previously received for Ehlers–Danlos Syndrome, symptoms and conditions related to it, and medications. Results: Of the 166 total adolescents seen in the pediatric multidisciplinary Ehlers–Danlos Syndrome clinic during the study period, 17% reported gender dysphoria. The average age at Ehlers–Danlos Syndrome diagnosis was 13.5 years (range 8–17 years). Most (61%) reported their gender identity as transgender, followed by nonbinary (14%). Most had preferred male (he/him) pronouns (47%), followed by nonbinary (they/them) pronouns (39%). The vast majority reported fatigue (75%), musculoskeletal issues (96%), psychiatric issues (86%), cardiac issues (71%), gastrointestinal issues (68%), and neurologic issues (79%). Conclusions: Here we report the first cohort of transgender and gender diverse adolescents in the Ehlers–Danlos syndrome population and show an association between the two. This report increases awareness for providers who care for patients with Ehlers–Danlos Syndrome. As care for those with Ehlers–Danlos Syndrome is often complex and multidisciplinary, providers should adopt practices of gender-affirming medical care that contribute to improved care and outcomes.
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Haubrich, William S. "Ehlers and Danlos of the Ehlers–Danlos Syndrome". Gastroenterology 130, n. 1 (gennaio 2006): 43. http://dx.doi.org/10.1053/j.gastro.2005.11.018.

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Vos, Aimee, e Katharine Burns. "Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report". Clinical Practice and Cases in Emergency Medicine 2, n. 5 (23 aprile 2021): 226–29. http://dx.doi.org/10.5811/cpcem.2021.3.51787.

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Abstract (sommario):
Introduction: Ehlers-Danlos syndrome is a well classified connective tissue disorder recognized by its features of hyperextensibility of joints and hyperelasticity of the skin. However, the rare vascular type (Ehlers-Danlos type IV) is more difficult to identify in the absence, rarity, or subtlety of the classical physical features. Patients presenting to the emergency department (ED) with acute complications of vascular Ehlers-Danlos syndrome may be critically ill, requiring accurate diagnosis and tailored management. Case Report: This report details a case of spontaneous innominate artery pseudoaneurysm rupture in a pediatric patient with previously undiagnosed Ehlers-Danlos syndrome. Initial ED evaluation was followed by urgent operative intervention and subsequent genetic testing to confirm final diagnosis. Conclusion: Due to its high morbidity and mortality, vascular type Ehlers-Danlos syndrome should be considered in the differential for otherwise unexplained spontaneous vascular injury.
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Pajak, Michal, Marcin A. Majos, Wojciech Szubert, Ludomir Stefanczyk e Agata Majos. "Acute brain ischemia as a complication of the Ehlers–Danlos syndrome, the case series". Vascular 22, n. 5 (30 settembre 2013): 341–45. http://dx.doi.org/10.1177/1708538113505519.

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Vascular type of Ehlers–Danlos syndrome involves many severe complications leading not only to organ-specific symptoms but often ends in a sudden death. The aim of this paper was to present a diagnostic possibilities and its efficiency rate in patients with vascular complications of Ehlers–Danlos syndrome who suffered from artery dissection resulting in acute brain or limb ischemia. We analysed three patients with diagnosed Ehlers–Danlos syndrome who were referred to radiology department for diagnostic imaging of affected vascular beds, each experienced brain ischemia. The paper also aims at offering some general recommendations for patients suffering from possible complications of type IV Ehlers–Danlos syndrome basing on our own experience and available literature data.
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Šinská, Alexandra, Eliška Hostinská e Radovan Pilka. "Osteogenesis imperfecta/Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy". Česká gynekologie 87, n. 6 (23 dicembre 2022): 396–400. http://dx.doi.org/10.48095/cccg2022396.

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Ehlers-Danlos syndrome is in a group of connective tissue disorders that can result in a range of complications during pregnancy. Clinical manifestations include skin hyperextensibility, atrophic scarring, poor wound healing, hyperflexibility or higher risk of organ ruptures (uterine rupture, aortal dissection). The combination of Ehlers-Danlos syndrome and osteogenesis imperfecta is very rare (< 1/1,000,000 according to Orphanet). We are presenting a case of woman with osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome and her pregnancy complicated by aortal dilatation. Our case has attempted to highlight the potential obstetric complications and to attract the attention of clinical physicians to the rare but extremely dangerous syndrome. Key words: Ehlers-Danlos syndrome – osteogenesis imperfecta – COL1-related disorder – pregnancy – aortal dissection
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Ralovich, Fanni Virág, Norbert Kiss, Krisztina Horváth, Sarolta Kárpáti e Márta Medvecz. "Az Ehlers–Danlos-szindrómák korszerű osztályozása és multidiszciplináris tünettana". Orvosi Hetilap 160, n. 16 (aprile 2019): 603–12. http://dx.doi.org/10.1556/650.2019.31351.

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Abstract (sommario):
Abstract: In this review article, the authors summarize the clinical aspects of the novel classification of Ehlers–Danlos syndrome, which is a group of rare, hereditary connective tissue disorders. The leading symptom of the Ehlers–Danlos syndrome group is joint hypermobility, skin hyperextensibility and generalized tissue fragility. Ehlers–Danlos syndrome displays a high clinical and genetic heterogeneity and harbors many multidisciplinary properties. Certain subtypes only affect the quality of life, while other forms may lead to severe, even fatal vascular or intestinal complications. Last year, based on the data of various international genotype-phenotype correlation studies of large populations, a new classification of the syndrome’s clinical subtypes was introduced. The novel international nosology of Ehlers–Danlos syndromes published in 2017 delineates 13 clinical subtypes, describes their genetic background and defines major and minor diagnostic criteria for each subtype. We gathered the complex, multidisciplinary symptoms of Ehlers–Danlos syndromes in a table to assist the diagnosis from a differential diagnostic point of view. In the clinical practice, the proper diagnosis of patients affected by the Ehlers–Danlos syndrome group is essential to give optimal clinical care and to prevent the development of severe complications. Orv Hetil. 2019; 160(16): 603–612.
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WATT, N. A. R., e G. HOOPER. "Skeletal Changes in the Hand in the Ehlers-Danlos Syndrome". Journal of Hand Surgery 12, n. 3 (giugno 1987): 394–95. http://dx.doi.org/10.1016/0266-7681_87_90197-5.

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We report a woman patient with Ehlers-Danlos Syndrome who presented with trapeziometacarpal subluxation and whose hands exhibited several other skeletal features of Ehlers-Danlos Syndrome, including acro-osteolysis.
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Taj, FarhanaTahseen, VijayaV Sajjan e Dolly Singh. "Ehlers-Danlos syndrome". Indian Dermatology Online Journal 5, n. 5 (2014): 68. http://dx.doi.org/10.4103/2229-5178.144554.

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Grahame, R. "Ehlers-Danlos syndrome". South African Medical Journal 106, n. 6 (25 maggio 2016): 45. http://dx.doi.org/10.7196/samj.2016.v106i6.10991.

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Tesi sul tema "Ehlers-Danlos"

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Berglund, Britta. "Living with Ehlers-Danlos syndrome /". Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-536-0/.

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Chiarini, Pierre Yves. "Le syndrome d'Ehlers-Danlos : à propos d'un cas". Montpellier 1, 1990. http://www.theses.fr/1990MON11244.

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Jonsson, Carolina. "Upplevelser av bemötande vid Ehlers-Danlos syndrom". Thesis, Luleå tekniska universitet, Institutionen för ekonomi, teknik och samhälle, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:ltu:diva-70458.

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Research shows that individuals who had negative encounters in healthcare had significantly less contact with healthcare. Ehlers-Danlos syndrome is a challenge to diagnose and treat. Studies have shown that individuals with Ehlers-Danlos syndrome for these reasons avoid healthcare with the risk of worsening of their own health, something that can depend on negative encounters. The purpose of this study is to give a descriptive overview of how people with Ehlers-Danlos syndrome experience encounters in healthcare. The research questions are “Do individuals with Ehlers-Danlos syndrome experience good access to healthcare?” and “How do individuals with Ehlers-Danlos syndrome experience encounters in healthcare?” An electronic survey was distributed through social media via Ehlers-Danlos national association in Sweden. The number of respondents was 521 of an estimated number of 814 adult individuals with Ehlers-Danlos syndrome in Sweden. The results show that 477 individuals have experienced offensive or reducing behavior from treating physicians. The majority report bad encounters and low availability in healthcare. The result also shows that it takes approximately 15,28 years to diagnose the condition.
Forskning har visat att individer som upplever negativt bemötande inom vården har mindre vårdkontakt. Ehlers-Danlos syndrom är en utmaning för vården att diagnostisera och behandla vilket en studie visar fört med sig att patienterna undviker vården med sämre hälsa som följd, något som kan bero på erfarenheter av negativt bemötande. Syftet med denna studie är att ge en beskrivning av hur individer med Ehlers-Danlos syndrom upplever bemötande inom primärvården. Två frågeställningar formulerades: Upplever individer med Ehlers-Danlos syndrom god tillgänglighet av vård? och Hur upplever individer med Ehlers-Danlos syndrom bemötande inom primärvården?  En elektronisk enkät skickades ut via sociala medier till patientgrupper med Ehlers-Danlos syndrom där Ehlers-Danlos Riksförbund bistod i distribueringen. Antalet som svarade var 521 stycken av ett estimerat antal om 814 vuxna individer med Ehlers-Danlos syndrom i Sverige. Resultatet visar att 477 individer någon gång upplevt kränkande eller förminskande bemötande av behandlande läkare. Majoriteten rapporterar dåligt bemötande och låg tillgänglighet av tider till primärvården. Resultatet visar dessutom att genomsnittstiden för diagnos ligger på 15,28 år.
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HOFFMAN, JESSICA ANNE. "Reduced Quality of Life in Ehlers-Danlos Syndrome". University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1218510126.

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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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Bark, Rickard, e Ellen Sollenberg. "Upplevelser av fysioterapi vid Ehlers-Danlos syndrom : En kvalitativ intervjustudie". Thesis, Mälardalens högskola, Akademin för hälsa, vård och välfärd, 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:mdh:diva-43366.

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Boismenu, Laurent. "Dissection aigue͏̈ de l'aorte et maladie d'Ehlers-Danlos chez le sujet jeune à propos d'un cas". Montpellier 1, 1993. http://www.theses.fr/1993MON11053.

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COLOMBET, CORINNE. "Les manifestations vasculaires du syndrome d'ehlers-danlos : a propos de 4 observations". Lyon 1, 1991. http://www.theses.fr/1991LYO1M160.

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Pook, Melanie Katharina. "Sequenz- und Expressionsanalysen kleiner leucin-reicher Proteoglykane bei Patienten mit klassischem Ehlers-Danlos-Syndrom". [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-64919.

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Sondergaard, Krista A. "Non-vascular Ehlers-Danlos Syndrome and Pregnancy: What are the Risks?" Case Western Reserve University School of Graduate Studies / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=case1339081648.

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Libri sul tema "Ehlers-Danlos"

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P, Barabas A., e Ehlers-Danos Support Group, a cura di. Ehlers-Danlos syndrome. Farnham: Ehlers-Danlos Support Group, 2003.

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P, Barabas A., e Ehlers-Danos Support Group, a cura di. Ehlers-Danlos syndrome. Richmond: Ehlers-Danlos Support Group, 1995.

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Luttkus, Andreas, a cura di. Das Ehlers-Danlos-Syndrom. Berlin, New York: DE GRUYTER, 2011. http://dx.doi.org/10.1515/9783110249569.

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Sturm, Karina, Helena Jung e Andrea Maier. Ratgeber Ehlers-Danlos-Syndrome. Berlin, Heidelberg: Springer Berlin Heidelberg, 2022. http://dx.doi.org/10.1007/978-3-662-65041-7.

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Luttkus, Andreas. Das Ehlers-Danlos-Syndrom: Eine interdisziplinäre Herausforderung. Berlin: de Gruyter, 2011.

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Parker, James N., e Philip M. Parker. The official patient's sourcebook on Ehlers-Danlos syndrome. San Diego, Calif: Icon Health Publications, 2002.

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

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Parker, James N., e Philip M. Parker. Ehlers-Danlos syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Knight, Isobel. A guide to living with hypermobility syndrome: Bending without breaking. London: Singing Dragon, 2011.

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Luttkus, Andreas, a cura di. Das Ehlers-Danlos-Syndrom. De Gruyter, 2018. http://dx.doi.org/10.1515/9783110474909.

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Capitoli di libri sul tema "Ehlers-Danlos"

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Abraham-Inpijn, Luzi. "Ehlers-Danlos". In Tandarts in de knel, 127–35. Houten: Bohn Stafleu van Loghum, 2017. http://dx.doi.org/10.1007/978-90-368-1442-3_13.

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Finlayson, Craig J. "Ehlers-Danlos". In Orthopaedics for the Newborn and Young Child, 481–90. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-11136-5_47.

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Tinkle, Brad T., e Carrie L. Atzinger. "Ehlers-Danlos Syndromes". In Management of Genetic Syndromes, 337–61. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch24.

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Hermanns-Lê, Trinh, Marie-Annick Reginster, Claudine Piérard-Franchimont e Gérald E. Piérard. "Ehlers-Danlos Syndrome". In Diagnostic Electron Microscopy - A Practical Guide to Interpretation and Technique, 309–21. Chichester, UK: John Wiley & Sons, Ltd, 2013. http://dx.doi.org/10.1002/9781118452813.ch12.

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Gilbert, Patricia. "Ehlers—Danlos syndrome". In The A-Z Reference Book of Syndromes and Inherited Disorders, 103–6. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_26.

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Burrows, Nigel P., Navjeet Sidhu-Malik e Heather N. Yeowell. "Ehlers-Danlos Syndromes". In Harper's Textbook of Pediatric Dermatology, 142.1–142.15. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444345384.ch142.

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Chen, Harold. "Ehlers-Danlos Syndrome". In Atlas of Genetic Diagnosis and Counseling, 1–17. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_78-2.

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Savasta, Salvatore, e Maurizia Valli. "Ehlers-Danlos Syndromes". In Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 887–906. Vienna: Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_56.

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Bassotti, Alessandra, e Elena Vittoria Longhi. "Ehlers–Danlos Syndrome". In Managing Psychosexual Consequences in Chronic Diseases, 407–18. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-31307-3_33.

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Kaltofen, Heike, Dierk A. Vagts, Uta Emmig e Peter Biro. "Ehlers-Danlos-Syndrom". In Anästhesie bei seltenen Erkrankungen, 1–4. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-44368-2_58-1.

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Atti di convegni sul tema "Ehlers-Danlos"

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Ates, Yasemin, Zuleyha Bingol e Turhan Ece. "A case of Ehlers-Danlos syndrome with hemoptysis". In Annual Congress 2015. European Respiratory Society, 2015. http://dx.doi.org/10.1183/13993003.congress-2015.pa3688.

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Domingues, Ayumi Gabriela Yamashita, FERNANDA DA SILVA MENDES e BEATRIZ QUELÉ AZEREDO. "MANIFESTAÇÕES NEUROPSICOLÓGICAS FREQUENTES ÀS SÍNDROMES DE EHLERS-DANLOS". In II Congresso Brasileiro de Doenças Crônicas On-line. Revista Multidisciplinar em Saúde, 2023. http://dx.doi.org/10.51161/cronics2023/25110.

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Jenabi, Fatemeh, Alice Leahy, Nicola Foulds e Hans de Graaf. "P37 Hypermobile ehlers-danlos syndrome explosion in the UK!!" In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.392.

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Torres, Annita Martins Rocha, Carolina Carvalho Mocarzel, Juliana Silva Esteves e Patrícia Pontes Frankel. "Síndrome de Ehlers-Danlos e gravidez: relato de caso". In 44° Congresso da SGORJ - XXIII Trocando Ideias. Zeppelini Editorial e Comunicação, 2020. http://dx.doi.org/10.5327/jbg-0368-1416-2020130289.

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Introdução: A Síndrome de Ehlers-Danlos (SED) é um distúrbio hereditário do tecido conjuntivo, e sua prevalência na gravidez é estimada em 1:150.000 gestantes. A doença em geral é caracterizada pela presença de hiperextensibilidade da pele, hipermobilidade articular, luxações, fragilidade do tecido, alterações cardíacas, ruptura arterial, como ruptura espontânea, dissecção, aneurisma dissecante e até mesmo alterações oftalmológicas, como ceratocone e descolamento de retina. Por ser uma condição rara, não há ampla literatura sobre a doença e o ciclo gravídico-puerperal. Objetivo: Descrever o caso de uma paciente com SED com intercorrências de dores articulares durante o pré-natal, porém com evoluções materna e neonatal favoráveis. Material e Métodos: D.S.R., feminina, 24 anos, G2P1A0, natural do Rio de Janeiro. Apresenta diagnóstico de SED há nove anos, com hipermobilidade articular e dor, porém sem acompanhamento regular com reumatologista. Iniciou seguimento de pré-natal em um serviço de alto risco, onde realizou seis consultas. As intercorrências na gestação se deram em função das várias crises de dor articular, que cessavam parcialmente com analgesia venosa. Sem intercorrências obstétricas durante o pré-natal e o parto. Paciente foi submetida à cesariana eletiva, com 38 semanas e 5 dias. Nascimento de recém-nascido (RN) do sexo feminino, pesando 3435 g, Apgar no 1 minuto 9 e no 5 minuto 9. Puerpério fisiológico, sem intercorrências. Resultados: A SED envolve alterações hereditárias em genes que afetam a síntese e o processamento de diferentes formas de colágeno, que são importantes na estrutura de muitos tecidos e órgãos, incluindo a pele, os tendões, os ligamentos, os vasos, o esqueleto e os olhos. A base genética para a maioria dos tipos de SED foi definida, exceto para o tipo hipermóvel (que é provavelmente geneticamente heterogênea), e o teste genético pode ser útil para diagnosticar vários desses distúrbios. A paciente descrita, embora não tenha o teste genético confirmatório, provavelmente possui a SED tipo III, pelas características de hipermobilidade articular, dor articular e luxações. A escolha pelo parto cesáreo foi por conta das crises de dor articular apresentadas pela paciente durante o pré-natal. Complicações obstétricas podem ocorrer, como ruptura prematura de membranas ovulares e prematuridade. A gravidez pode ser o primeiro evento com risco de complicações nessas mulheres, principalmente a rotura uterina, as rupturas intestinais e, com mais gravidade, as rupturas vasculares. Conclusão: As pacientes com SED devem ser encaminhadas para unidade de pré-natal de alto risco, preferencialmente em hospital terciário com suporte multidisciplinar em razão do risco potencial de complicações graves. O aconselhamento genético tem papel fundamental por permitir melhor caracterização do tipo de SED e orientação quanto aos riscos de perpetuação da doença na futura prole. É de grande valia a identificação do tipo de SED para manejo obstétrico seguro e adequado.
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Alrjoob, M., A. Ketkar, A. Khan, A. Alkhatib, R. Dua e B. Li. "Refractory Tracheobronchomalacia in a Patient With Ehlers Danlos Syndrome". In American Thoracic Society 2023 International Conference, May 19-24, 2023 - Washington, DC. American Thoracic Society, 2023. http://dx.doi.org/10.1164/ajrccm-conference.2023.207.1_meetingabstracts.a6351.

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Smith, G. T., O. Qadir e A. Szema. "Need for Penicillin Allergy Testing Among Ehlers-Danlos Syndrome Patients". In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4981.

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Proença, Bruna Moreira de Souza, Cristiane de Araújo Martins Moreno, Marco Antônio Veloso de Albuquerque, André Macedo Serafim da Silva, Clara Gontijo Camelo, Roberta Diniz de Almeida, Raquel Diógenes Alencar Sindeaux, Beatriz Carneiro Gondim Silva, Lucas Marenga Buarque e Edmar Zanoteli. "Ehlers-Danlos syndrome: an important differential diagnosis for congenital myopathies". In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.722.

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Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a genetic collagen disorder, with early onset hypotonia, weakness, progressive kyphoscoliosis, joint hypermobility, and other features underlying connective tissue involvement. On the other hand, congenital myopathies (CMs) are genetic muscle disorders, with hypotonia and weakness usually from birth which can associate with skeletal deformities. Case 1: RSS, 2-year-old, male. At birth, hip dysplasia and global hypotonia. On examination, proximal tetraparesis, global hyporeflexia and hypotonia, joint hypermobility, ogival palate, umbilical hernia, scoliosis and clubfoot. Genetic testing: Homozygous pathogenic variant in the FKBP14 gene (ENST0000000222803- c.362_363insC, p.Glu122Argfs*7), associated with kEDS type II. Case 2: RRO, 37-year-old, female. Global hypotonia at birth with congenital hip dislocation. On examination, mild proximal weakness, global hyporeflexia, joint hypermobility, scoliosis and ogival palate. Absence of marfanoid habitus. Genetic testing: Homozygous pathogenic variant in the PLOD1 gene (ENST00000196061-c.2032G>A, p.Gly678Arg), associated with kEDS type I. Conclusion: Uncommon clinical features in CMs should alert for an alternative diagnosis. Extreme joint laxity is more often a sign of a connective tissue disease, and can be associated with Marfanoid habitus, arterial dissection, bluish sclerae, umbilical hernia. Both patients presented nonspecific findings like neonatal skeletal deformities, hypermobility and mild weakness. A wide genetic test was definitive for the correct diagnosis. EDS must be included in the differential diagnosis of congenital myopathies, especially when associated with involvement of connective tissue. This is very relevant in the management care of the patients.
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Stöberl, Anna, Thomas Gaisl, Noriane Sievi, Florian Singer, Alexander Moeller, Marianne Rohrbach, Malcolm Kohler e Cecilia Giunta. "Obstructive sleep apnea in children and adolescents with Ehlers-Danlos syndrome". In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa3335.

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Gaisl, Thomas, Cecilia Giunta, Kate Sutherland, Daniel Bratton, Christian Schlatzer, Noriane Sievi, Daniel Franzen, Peter Cistulli, Marianne Rohrbach e Malcolm Kohler. "Obstructive sleep apnea in Ehlers-Danlos syndrome. A prospective case-control study". In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa339.

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Saeed, R., N. Nadeem, M. Shaukat e S. Roomi. "Vaping Associated Organizing Pneumonia in a Young Transgender Male with Ehlers-Danlos Syndrome". In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1884.

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