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Artigos de revistas 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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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Hudson, David M., MaryAnn Weis, Jyoti Rai, et al. "P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA." Journal of Biological Chemistry 292, no. 9 (2017): 3877–87. http://dx.doi.org/10.1074/jbc.m116.762245.

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12

Giunta, Cecilia, Ann Randolph, and Beat Steinmann. "Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)." Molecular Genetics and Metabolism 86, no. 1-2 (2005): 269–76. http://dx.doi.org/10.1016/j.ymgme.2005.04.014.

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13

Connizzo, Brianne K., Lin Han, David E. Birk, and Louis J. Soslowsky. "Collagen V-heterozygous and -null supraspinatus tendons exhibit altered dynamic mechanical behaviour at multiple hierarchical scales." Interface Focus 6, no. 1 (2016): 20150043. http://dx.doi.org/10.1098/rsfs.2015.0043.

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Tendons function using a unique set of mechanical properties governed by the extracellular matrix and its ability to respond to varied multi-axial loads. Reduction of collagen V expression, such as in classic Ehlers–Danlos syndrome, results in altered fibril morphology and altered macroscale mechanical function in both clinical and animal studies, yet the mechanism by which changes at the fibril level lead to macroscale functional changes has not yet been investigated. This study addresses this by defining the multiscale mechanical response of wild-type, collagen V-heterozygous and -null supra

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14

Langhinrichsen-Rohling, Jennifer, Chrystal L. Lewis, Sean McCabe, et al. "They’ve been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients’ current symptoms, unmet needs and healthcare expectations." Therapeutic Advances in Rare Disease 2 (January 2021): 263300402110220. http://dx.doi.org/10.1177/26330040211022033.

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Introduction: Patients with rare and/or care-intensive conditions, such as Ehlers-Danlos Syndrome (EDS), can pose challenges to their healthcare providers (HCPs). The current study used the BITTEN framework1 to code EDS patients’ open-ended written responses to a needs survey to determine their self-reported prevalence of healthcare institutional betrayal and its link with their expressed symptoms, provider perceptions, unmet needs, and on-going healthcare-related expectations. Methods: Patients with EDS ( n = 234) were recruited via a rare disease electronic mailing list and snowball sampling

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15

Tinkle, Brad, Marco Castori, Britta Berglund, et al. "Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (2017): 48–69. http://dx.doi.org/10.1002/ajmg.c.31538.

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16

GIUNTA, CECILIA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE, and BEAT STEINMANN. "Ehlers-Danlos Syndrome Type VII." Journal of Bone & Joint Surgery 81, no. 2 (1999): 225–38. http://dx.doi.org/10.2106/00004623-199902000-00010.

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17

Apaydin, Aysegul. "Ehlers-Danlos Syndrome (Type VIII)." Journal of Nihon University School of Dentistry 37, no. 4 (1995): 214–17. http://dx.doi.org/10.2334/josnusd1959.37.214.

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18

Urmil, AK. "Ehlers-Danlos Syndrome Type V." Medical Journal Armed Forces India 60, no. 1 (2004): 81–83. http://dx.doi.org/10.1016/s0377-1237(04)80171-0.

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19

DESYLVA, PLK, KM SHAH, and S. BHATTACHARYA. "EHLERS-DANLOS SYNDROME-TYPE II." Medical Journal Armed Forces India 55, no. 3 (1999): 245–46. http://dx.doi.org/10.1016/s0377-1237(17)30455-0.

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20

Bowen, Jessica M., Glenda J. Sobey, Nigel P. Burrows, et al. "Ehlers-Danlos syndrome, classical type." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (2017): 27–39. http://dx.doi.org/10.1002/ajmg.c.31548.

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21

Soo-Hoo, Sarah, Brandon R. Porten, Bjorn I. Engstrom, and Nedaa Skeik. "Ehlers-Danlos Syndrome Type IV." Vascular and Endovascular Surgery 50, no. 3 (2016): 156–59. http://dx.doi.org/10.1177/1538574416627697.

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22

De Paepe, A. "Ehlers-Danlos Syndrome Type IV." Dermatology 189, no. 2 (1994): 21–25. http://dx.doi.org/10.1159/000246984.

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23

Leung, R., and R. Russell Jones. "(6) Type VII Ehlers Danlos syndrome." British Journal of Dermatology 119, s33 (1988): 65–66. http://dx.doi.org/10.1111/j.1365-2133.1988.tb05409.x.

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24

Viljoen, Denis, Jack Goldblatt, Dave Thompson, and Peter Beighton. "Ehlers-Danlos syndrome: yet another type?" Clinical Genetics 32, no. 3 (2008): 196–201. http://dx.doi.org/10.1111/j.1399-0004.1987.tb03354.x.

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25

Jayarajan, Senthil N., Brandon D. Downing, Luis A. Sanchez, and Jeffrey Jim. "Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome." Vascular 28, no. 6 (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 we

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26

Watanabe, Atsushi, and Takashi Shimada. "The Vascular Type of Ehlers-Danlos Syndrome." Journal of Nippon Medical School 75, no. 5 (2008): 254–61. http://dx.doi.org/10.1272/jnms.75.254.

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27

Ploeckinger, Barbara, Martin Ulm, and Kinga Chalubinski. "Ehlers-Danlos Syndrome Type II in Pregnancy." American Journal of Perinatology 14, no. 02 (1997): 99–101. http://dx.doi.org/10.1055/s-2007-994106.

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28

Abramson, David H. "Pseudomelanoma in Ehlers-Danlos Syndrome Type IV." Archives of Ophthalmology 115, no. 9 (1997): 1216. http://dx.doi.org/10.1001/archopht.1997.01100160386032.

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29

Spranger, Stephanie, Matthias Spranger, Klaus Kirchhof, and Beat Steinmann. "Ehlers-Danlos syndrome type VIII and leukodystrophy." American Journal of Medical Genetics 66, no. 2 (1996): 239–40. http://dx.doi.org/10.1002/(sici)1096-8628(19961211)66:2<239::aid-ajmg23>3.0.co;2-t.

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30

Girit, Saniye, Ebru Senol, Yakup Cag, Ozge Karatas, and Tamer Baysal. "Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly." Journal of Bronchology & Interventional Pulmonology 25, no. 1 (2018): 70–72. http://dx.doi.org/10.1097/lbr.0000000000000416.

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31

Plackett, Timothy P., Edward Kwon, Ronald A. Gagliano, and Robert C. Oh. "Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids." Case Reports in Surgery 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/171803.

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Ehlers-Danlos syndrome-hypermobility type (EDS-HT) is a connective tissue disorder associated with chronic musculoskeletal pain. The diagnosis is based on simple clinical examination, although it is easily overlooked. Herein we present a case of EDS-HT associated with hemorrhoids and suggest that there may be an association between the two conditions.

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32

Morales-Roselló, J., J. Hernandez-Yago, and M. Pope. "Type III Ehlers-Danlos syndrome and pregnancy." Archives of Gynecology and Obstetrics 261, no. 1 (1997): 39–43. http://dx.doi.org/10.1007/s004040050196.

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33

Hammond, Rebecca, and Nicholas Oligbo. "Ehlers Danlos Syndrome Type IV and pregnancy." Archives of Gynecology and Obstetrics 285, no. 1 (2011): 51–54. http://dx.doi.org/10.1007/s00404-011-1899-5.

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34

Kazakov, Dimitar, Georgi Pavlov, and Chavdar Stefanov. "Ehlers-Danlos Syndrome Type IV - Anaesthetic Considerations." Folia Medica 63, no. 1 (2021): 153–55. http://dx.doi.org/10.3897/folmed.63.e53968.

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Ehlers-Danlos syndrome (EDS) is a rare disorder that occurs due to genetic defect in the collagen synthesis. The vascular subtype of EDS (type IV) is defined by characteristic facial features, translucent skin, easy bruising, and spontaneous arterial rupture and visceral perforation of such organs as the uterus and intestines, with possible life-threatening consequences. We report a case of a 15-year-old male patient with no past medical history undergoing emergency laparotomy after a spontaneous sigmoid colon perforation. Post-operatively and during the ICU stay complications developed and se

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35

Vos, Aimee, and Katharine Burns. "Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report." Clinical Practice and Cases in Emergency Medicine 2, no. 5 (2021): 226–29. http://dx.doi.org/10.5811/cpcem.2021.3.51787.

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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 ps

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36

Bateman, J. F., and S. B. Golub. "Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate." Biochemical Journal 267, no. 3 (1990): 573–77. http://dx.doi.org/10.1042/bj2670573.

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The culture of skin fibroblasts in the presence of 0.01% (w/v) dextran sulphate results in complete proteolytic processing of procollagen to collagen. Processing occurs predominantly via a pN-collagen intermediate, suggesting that C-propeptide cleavage occurs early during the processing pathway. The processed collagen is associated with the cell-layer fraction. This method of inducing procollagen processing was evaluated for use in detecting procollagen processing abnormalities in heritable connective-tissue diseases. Abnormal type I procollagen processing was clearly demonstrated in two cases

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37

Jacome, DE. "Headache in Ehlers—Danlos Syndrome." Cephalalgia 19, no. 9 (1999): 791–96. http://dx.doi.org/10.1046/j.1468-2982.1999.1909791.x.

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Objective: Ehlers—Danlos Syndrome (EDS) is a complex hereditary connective tissue disorder with neurologic manifestations that include cerebrovascular disorders and chronic pain. The clinical data collected on 18 patients with EDS and chronic headaches is reported. Procedure: Clinical history, neurologic examination, computerized tomography of the head, magnetic resonance imaging (MRI) of the brain, and electroencephalogram (EEG). Headaches were classified according to the International Headache Society and the patients were followed by the author for a minimum of 2 years. Findings: Four patie

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38

Schievink, Wouter I., David G. Piepgras, Franklin Earnest, and Hymie Gordon. "Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV." Journal of Neurosurgery 74, no. 6 (1991): 991–98. http://dx.doi.org/10.3171/jns.1991.74.6.0991.

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✓ Spontaneous bilateral carotid-cavernous fistulae and cervical artery dissection is reported in a 20-year-old woman with Ehlers-Danlos syndrome Type IV. The clinical features of 16 previously published cases of spontaneous carotid-cavernous fistulae associated with Ehlers-Danlos syndrome Type IV are reviewed, for a total of 17 cases. The mean age of the 14 women and three men was 31.6 years. Only direct fistulae were encountered. Diagnostic neuroangiography carried morbidity and mortality rates of 36% and 12%, respectively; neuroradiological treatment resulted in death in one of six patients.

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39

Pajak, Michal, Marcin A. Majos, Wojciech Szubert, Ludomir Stefanczyk, and Agata Majos. "Acute brain ischemia as a complication of the Ehlers–Danlos syndrome, the case series." Vascular 22, no. 5 (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 o

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40

Nakagawa, Hiroaki, Hiroshi Wada, Takashi Hajiro, et al. "Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax." Internal Medicine 54, no. 24 (2015): 3181–84. http://dx.doi.org/10.2169/internalmedicine.54.4947.

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41

Soonawalla, Z. "Type IV Ehlers-Danlos syndrome: a surgical emergency." Postgraduate Medical Journal 78, no. 922 (2002): 501—a—502. http://dx.doi.org/10.1136/pmj.78.922.501-a.

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42

Hatake, Katsuhiko, Yoshifumi Morimura, Risa Kudo, Wataru Kawashima, Shogo Kasuda, and Hiroki Kuniyasu. "Respiratory complications of Ehlers–Danlos syndrome type IV." Legal Medicine 15, no. 1 (2013): 23–27. http://dx.doi.org/10.1016/j.legalmed.2012.07.005.

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43

Lauwers, Geert, André Nevelsteen, Geert Daenen, Hendrik Lacroix, Raphael Suy, and Jean-Pierre Frijns. "Ehlers-Danlos Syndrome Type IV: A Heterogeneous Disease." Annals of Vascular Surgery 11, no. 2 (1997): 178–82. http://dx.doi.org/10.1007/s100169900031.

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44

POPE, F. M. "MOLECULAR ANALYSIS OF EHLERS-DANLOS SYNDROME TYPE II." Rheumatology 30, no. 3 (1991): 163–66. http://dx.doi.org/10.1093/rheumatology/30.3.163.

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45

Schievink, W. I., M. Limburg, J. W. Oorthuys, P. Fleury, and F. M. Pope. "Cerebrovascular disease in Ehlers-Danlos syndrome type IV." Stroke 21, no. 4 (1990): 626–32. http://dx.doi.org/10.1161/01.str.21.4.626.

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46

Eder, Johanna, Franco Laccone, Marianne Rohrbach, et al. "A newCOL3A1mutation in Ehlers-Danlos syndrome type IV." Experimental Dermatology 22, no. 3 (2013): 231–34. http://dx.doi.org/10.1111/exd.12105.

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47

Prahlow, Joseph A., and Scott A. Wagner. "Death Due to Ehlers-Danlos Syndrome Type IV." American Journal of Forensic Medicine and Pathology 26, no. 1 (2005): 78–82. http://dx.doi.org/10.1097/01.paf.0000153997.06338.4b.

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48

OSTLERE, L. S., F. M. POPE, and C. A. HOLDEN. "Cutis laxa complicating Ehlers-Danlos syndrome type II." Clinical and Experimental Dermatology 21, no. 2 (1996): 135–37. http://dx.doi.org/10.1046/j.1365-2230.1996.d01-209.x.

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49

North, Kathryn N., David A. H. Whiteman, Melanie G. Pepin, and Peter H. Byers. "Cerebrovascular complications in Ehlers-Danlos syndrome type IV." Annals of Neurology 38, no. 6 (1995): 960–64. http://dx.doi.org/10.1002/ana.410380620.

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50

Hakim, Alan, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, and Peter Rowe. "Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (2017): 175–80. http://dx.doi.org/10.1002/ajmg.c.31542.

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