Relevant bibliographies by topics / Ehlers-Danlos syndrome type VIA

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Academic literature on the topic 'Ehlers-Danlos syndrome type VIA'

Author: Grafiati
Published: 4 June 2021
Last updated: 8 February 2022

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Journal articles on the topic "Ehlers-Danlos syndrome type VIA"

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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 tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.
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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 (April 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 (January 13, 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 & Associates, Flagstaff, AZ) was advanced from the right brachial approach into the innominate artery. A separate wire was placed into the right carotid artery via the right femoral approach (7 Fr), and a 7 mm × 10-cm stent graft (Viabahn) was advanced into the innominate artery. An additional 8 mm × 10-cm stent graft (Viabahn) was placed from the right brachial approach to obtain a distal-landing zone in the axillary artery. Complex vascular anatomy, in which graft seal creation may be challenging, does not exclude endovascular approaches as the sandwich technique can be utilized as a suitable alternative to open repair.
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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 (October 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, Manabu Miyamoto, Yoichiro Hamasaki, Shigemi Yoshihara, Shujiro Hayashi, and Ken Igawa. "Endoplasmic reticulum stress and collagenous formation anomalies in vascular‐type Ehlers–Danlos syndrome via electron microscopy." Journal of Dermatology 48, no. 4 (February 2021): 481–85. http://dx.doi.org/10.1111/1346-8138.15766.

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Rohrbach, Marianne, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, 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, Marius Kraenzlin, Hazem El-Tayeby, Mervat F. Elbelbesy, Amira Nabil, and Cecilia Giunta. "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 (October 3, 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 (August 21, 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 galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.
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Dissertations / Theses on the topic "Ehlers-Danlos syndrome type VIA"

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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 tissues. In humans, a deficiency of LH1, which is known to hydroxylate lysines in the helical regions of collagen polypeptides, causes Ehlers-Danlos syndrome VIA (EDS VIA). It is characterized e.g. by progressive kyphoscoliosis and hypermobile joints. Mutations in LH2, which is known to hydroxylate lysines in the telopeptides of collagen polypeptides, cause Bruck syndrome type 2 (BS2). BS2 patients suffer from fragile bones and congenital joint contractures, for instance, but the syndrome is usually not lethal. In this work we have generated and analyzed genetically modified LH1 and LH2 null mouse lines to study the in vivo functions and roles of these enzymes. Analyses concentrated also on collagen cross-links that were determined from several null or heterozygous mouse tissues. In the present work we also studied the effects of known BS2 mutations on recombinant human LH2 polypeptides to understand the molecular pathology of the syndrome. As an animal model for human EDS VIA, LH1 null mice had certain characteristics typical for EDS VIA, such as muscular hypotonia, but generally the symptoms were milder. Like EDS VIA patients, the mice have an increased risk of arterial ruptures and ultrastructural changes can be seen in the wall of the aorta, explained by inadequate helical lysine hydroxylation accompanied by a changed cross-linking state of tissues. Similarly, analysis of the LH2 null mouse line demonstrated the importance of the enzyme in cross-link formation. We showed that even a reduced amount of LH2 in adult mice changes the cross-linking pattern in tissues and a total lack of the enzyme leads to embryonic lethality. Furthermore, we demonstrated that LH2 is particularly important in tissue structures supporting blood vessels in the developing mouse embryo or in extraembryonic tissues. Finally, our in vitro studies with recombinant human LH2 polypeptides revealed that the known BS2 mutations severely affect the activity of the enzyme thus explaining the clinical symptoms of the patients, but the mutations do not lead to a total inactivation of the enzyme, which may be critical for the survival of patients
Tiivistelmä Solunulkoinen matriksi ei ole ainoastaan soluja ja kudoksia tukeva rakenne, vaan se on dynaaminen osa ihmiskehoa. Kollageenien, solunulkoisen matriksin yleisimpien proteiinien ominaisuudet määräytyvät jo kollageenien synteesivaiheessa ja mutaatiot kollageeneja koodittavissa geeneissä, säätelytekijöiden epätasapaino tai esimerkiksi kollageeneja muokkaavien entsyymien toimintahäiriöt voivat johtaa vaikeisiin kliinisiin komplikaatioihin. Tietyt lysyylihydroksylaasien (LH) muodostamat hydroksilysiinitähteet toimivat kollageeneissa kollageeniristisidosten esiasteina. Ristisidokset vakauttavat kollageenirakenteita ja siten myös kudoksia. LH1 hydroksyloi lysiinejä kollageenipolypeptidien kolmoiskierteisellä alueella ja ihmisellä entsyymin puutos aiheuttaa tyypin VIA Ehlers-Danlosin syndrooman (EDS VIA), jossa potilailla on esimerkiksi etenevää kyfoskolioosia ja yliliikkuvat nivelet. Mutaatiot LH2-entsyymissä, joka hydroksyloi lysiinejä kollageenipolypeptidien telopeptidialueilla, aiheuttavat tyypin 2 Bruckin syndrooman (BS2). BS2-potilaat kärsivät mm. luiden hauraudesta ja niveljäykkyydestä, mutta syndrooma ei yleensä ole letaali. Tässä työssä loimme ja analysoimme geneettisesti muunnellut LH1 ja LH2 hiirilinjat, joiden kyseinen LH-geeniaktiivisuus on hiljennetty. Linjojen avulla halusimme tutkia näiden entsyymien toimintaa ja merkitystä in vivo. Analyysit keskittyivät myös kollageeniristisidoksiin, joita tutkittiin useista poistogeenisten tai heterotsygoottisten hiirten kudoksista. Ymmärtääksemme BS2:n molekyylipatologiaa, tutkimme tässä työssä myös tunnettujen BS2-mutaatioiden vaikutuksia ihmisen LH2-rekombinanttiproteiinissa. EDS VIA:n eläinmallina LH1 poistogeenisillä hiirillä on joitakin ominaisuuksia, kuten lihashypotonia, jotka ovat tyypillisiä EDS VIA:lle, mutta yleisesti oireet ovat lievempiä. Kuten EDS VIA-potilailla, hiirillä on kohonnut valtimoiden repeytymisriski ja aortan seinämän ultrarakenteessa voidaankin havaita muutoksia. Oireita voidaan selittää riittämättömällä kollageenien kolmoiskierteisen alueen lysiinien hydroksylaatiolla, joka muuttaa kollageenien ristisidostilaa kudoksissa. Myös LH2-hiirilinjan analysointi osoitti kyseisen entsyymin tärkeyden ristisidosten muodostamisessa. Jo alentunut LH2:n määrä aikuisissa hiirissä muuttaa kudosten kollageeniristisidoksia ja täydellinen entsyymin puuttuminen johtaa sikiön kuolemaan. Lisäksi osoitimme, että LH2 on erityisen tärkeä kudosrakenteissa, jotka tukevat kehittyvän hiiren sikiön tai sikiön ulkopuolisten kudosten verisuonia. In vitro-tutkimukset ihmisen LH2-rekombinanttiproteiinilla paljastivat, että tunnetut BS2-mutaatiot vaikuttavat erittäin haitallisesti entsyymin toimintaan, mikä selittää potilaiden kliiniset oireet, mutta mutaatiot eivät kuitenkaan aiheuta entsyymin täydellistä inaktivaatiota, mikä voi olla kriittistä potilaiden selviytymisen kannalta
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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 de type III. Des variants d'un site d'épissage, des insertions-délétions sont également rencontrées, et plus rarement des mutations faux-sens n'affectant pas une glycine, ou des mutations responsables d'haploinsuffisance. Les mutations du COL3A1 sont presque exclusivement privées, et une corrélation entre le phénotype observé et les mutations retrouvées n'a jamais été mise en évidence. Nous avons rapporté l'expérience du centre de référence français du SEDv sur 215 patients, et retrouvé une sévérité de la maladie plus importante chez ceux avec une substitution glycine, ou une insertion/délétion du cadre de lecture dans région de la triple hélice comparativement aux autres génotypes: variants responsables d'haploinsuffisance, variants faux-sens n'affectant pas une glycine, ou les altérations des extrémités N ou C-terminales. Par ailleurs, le phénotype de ces 3 derniers groupes de génotype ne rassemblait pas l'ensemble des symptômes habituellement décrits dans le SEDv et notamment pas de complication digestive. Afin de mieux comprendre l'altération des propriétés biomécaniques de la paroi artérielle des patients atteints de SEDv nous avons utilisé une nouvelle technologie ultrasonore, ultrafastécho, permettant de visualiser et mesurer la vitesse de l'onde de pouls (VOP) localement au niveau carotidien et tout au long du cycle cardiaque. La VOP est un marqueur de rigidité artérielle bien étudié dans l'athérosclérose, et connu pour être un facteur indépendant de mortalité cardiovasculaire. Nous avons établi des valeurs normales des paramètres de l'ultrafastécho chez 102 volontaires sains et analysés 37 patients avec SEDv. Cette étude n'a pas retrouvé de différence de la VOP, donc de rigidité artérielle, en début de systole. En revanche, au cours du cycle cardiaque on a pu observer une moindre rigidification de la paroi artérielle avec l'augmentation de la pression artérielle chez les patients SEDv. Nous avons poursuivi nos explorations par ultrafastécho sur un modèle murin haploinsuffisant pour le collagène de type III (souris Col3a1 hétérozygote) et retrouvé le même profil de réponse. En effet une moindre augmentation de la rigidité artérielle alors que la pression artérielle était augmentée par perfusion de vasopresseur était constatée chez les souris col3a1 hétérozygotes comparativement aux souris sauvages. En conclusion, l'altération du collagène de type III dans le SEDv affecte les propriétés biomécaniques de la paroi artérielle des patients, avec notamment une moindre rigidification lors de l'augmentation de la pression artérielle. Nos travaux ont permis d’affiner la physiopathologie du SEDv, de préciser le phénotype vasculaire par une nouvelle mesure de la VOP et ouvrent des pistes de recherche thérapeutiques d'un traitement augmentant la rigidité artérielle afin de tenter de réduire les risques de ruptures artérielles
Vascular Elhers-Danlos syndrome (vEDS) is an autosomal dominant genetic vascular disease, affecting the collagen type III, a component in the extracellular matrix of the arterial wall. Patients with vEDS are prone to arterial, intestine or uterine ruptures, which explain the severity of the disease. Mutations in COL3A1, gene encoding for collagen type III are usually heterozygous missense mutations responsible for the substitution of a glycine amino acid for another, which affects the triple helical conformational structure of the collagen type III. Variants of a splice site, deletions/insertions, are also encountered, and more rarely missense mutations not affecting a glycine residue, or alterations responsible for haploinsufficiency. The COL3A1 mutations are almost exclusively private, and a genotype/phenotype correlation has not been clearly studied. We reported the experience of the French reference center for vEDS of 215 patients and found a greater severity of the disease in those with a glycine substitution, or in frame insertion / deletion within the triple helix domain than in other genotypes: responsible variants of haploinsufficiency, missense variants not affecting glycine, or alteration of the N- or C-terminal ends. Furthermore, the phenotype of these last three genotype groups did not combine the complete phenotype described in vEDS especially no gastrointestinal complication. To better understand the alteration of the biomechanical properties of the arterial wall of patients with vEDS we used a new ultrasound technology, ultrafastecho, to visualize and measure the pulse wave velocity (PWV) locally on carotids, over the cardiac cycle. The PWV is a marker of arterial stiffness studied in atherosclerosis, and well known to be an independent risk factor for cardiovascular mortality. We have established normal values ultrafastecho parameters in 102 healthy volunteers and 37 patients with vEDS. This study found no difference in PWV, thus arterial stiffness, in early systole cardiac at diastolic blood pressure. However, in patients with vEDS, weaker stiffening of the arterial wall was observed when blood pressure increases during the cardiac cycle. We continued our explorations by ultrafastecho on a mouse model of vEDS, haploinsufficient for the collagen type III (Col3a1 heterozygous mice). We figured out that Col3a1 heterozygous mice presented the same response profile. Indeed a smaller increase in arterial stiffness while blood pressure was increasing secondary to vasopressor infusion was revealed in the mice compared to the wild mice. In conclusion, alterations of collagen type III in the vEDS affect the biomechanical properties of the arterial wall of the patient, through lower stiffening during the increase of blood pressure over the cardiac cycle. This provides a therapeutic approach for targeting treatment increasing arterial stiffness in vEDS in order to reduce the risk of arterial rupture
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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 different Ehlers-Danlos VIA patients. The first patient characterized in this study had a duplication of seven exons in the lysyl hydroxylase gene 1. The mutation was caused by homologous recombination of two identical 44-nucleotide regions of Alu sequences in introns 9 and 16 in the gene. This study also suggests that uniparental isodisomy does not explain the homozygosity of the mutation. The second patient was found to have two mutations in the gene for lysyl hydroxylase 1 in a compound heterozygote state. The study resulted in the discovery of the first deletion mutation in the gene. The deletion was caused by an Alu-Alu recombination that removes about 3 kb from the gene including all the exon 17 sequences. The other mutation causes deletion of exon 16 from the mRNA. Deletion of the penultimate nucleotide of intron 15 destroys the consensus sequence of the intron/exon boundary and thus causes the deletion. The third patient was described to have a nonsense codon in exon 14 of one allele which causes a reduction in the amount of lysyl hydroxylase mRNA and leads to aberrant RNA splicing in the cell. The other allele was concluded to be operationally null. In the last work two novel null mutations were found in the gene for lysyl hydroxylase 1. The first was a one nucleotide deletion in the acceptor splice site of intron 4 and the other an insertion of a C nucleotide in exon 2. The abnormal alleles lead to markedly decreased lysyl hydroxylase mRNA levels. This work revealed many exon deleted splicing variants of lysyl hydroxylase mRNA which were first discovered in affected cells, but traces of similarly spliced mRNA species were also found in the cytoplasm of normal human skin fibroblasts. These data indicate that the splicing machinery of the cell is leaky. In this thesis, several types of stuctural mutations in the DNA were found to be responsible for lysyl hydroxylase deficiency in patients with type VIA variant of EDS. The different mechanisms causing these mutations were also studied in detail.
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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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Books on the topic "Ehlers-Danlos syndrome type VIA"

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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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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 – Sturge-Weber Syndrome – Mixed – Aplasia Cutis Congenita – Focal Dermal Hypoplasia – Tuberous Sclerosis – Other Disorders of the Dermis – Albright Hereditary Osteodystrophy – Cutis Verticis Gyrata – Familial Dysautonomia – François Syndrome – Lipoid Proteinosis – Multiple Pterygia – Systemic Hyalinosis
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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 Sturge-Weber Syndrome, and Multiple Cutaneous and Mucosal Venous Malformations), Mixed disorders (Aplasia Cutis Congenita, Focal Dermal Hypoplasia, Tuberous Sclerosis Complex), and other Disorders of the Dermis (Albright Hereditary Osteodystrophy, Cutis Verticis Gyrata, Familial Dysautonomia, François Syndrome, Hyaline Fibromatosis Syndrome, Lipoid Proteinosis, and Multiple Pterygia). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
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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, dentogenesis imperfecta, blue sclera, and hearing loss. Most patients with osteogenesis imperfecta have mutations in COL1A1 or COL1A2. Marfan syndrome is a connective tissue disease with a pattern of symptoms related to the presence of fibrillin in tissues. Typically, affected individuals are of tall, thin stature, with long fingers and toes (arachnodactyly), a pectus deformity, and scoliosis. Between 66% and 91% of individuals with Marfan syndrome have a mutation in fibrillin-1 (FBN1; locus: 15q21). All forms of Ehlers–Danlos syndrome present with variable thinning and fragility of skin, leading to easy bruising and poor scar formation. There is skin and joint laxity. In severe forms, blood vessels and internal organs are affected.
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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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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 more rare, eponymous syndromes such as Marfan's 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 pangastrointestinal 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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Book chapters on the topic "Ehlers-Danlos syndrome type VIA"

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Zakko, Liam. "Ehlers–Danlos Syndrome Type IV (Vascular): Gastrointestinal Features." In Atlas of Dermatological Manifestations of Gastrointestinal Disease, 73–74. New York, NY: 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, 75–76. New York, NY: 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, 1361–68. 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, 693. Berlin, Heidelberg: 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, 217–28. 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, 1–22. 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, 1362–72. 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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Conference papers on the topic "Ehlers-Danlos syndrome type VIA"

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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, Akira Watanabe, tetsuo Yamaguchi, Yoshinori Kawabata, and Yuh Fukuda. "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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