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Vascular ehler danlos

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https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#1
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102592/six-uneventful-pregnancy-outcomes-in-an-extended-vascular-ehlers-danlos-syndrome-family
#2
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27931023/increased-need-for-gastrointestinal-surgery-and-increased-risk-of-surgery-related-complications-in-patients-with-ehlers-danlos-syndrome-a-systematic-review
#3
Marie-Louise Kulas Søborg, Julie Leganger, Jacob Rosenberg, Jakob Burcharth
BACKGROUND/AIMS: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. METHODS: A systematic search was conducted in PubMed, Embase, and Scopus to identify relevant studies...
December 9, 2016: Digestive Surgery
https://www.readbyqxmd.com/read/27826465/collagenopathies-implications-for-abdominal-wall-reconstruction-a-systematic-review
#4
Bridget Harrison, Kyle Sanniec, Jeffrey E Janis
BACKGROUND: The etiology of hernia formation is strongly debated and includes mechanical strain, prior surgical intervention, abnormal embryologic development, and increased intraabdominal pressure. Although the most common inciting cause in ventral hernias is previous abdominal surgery, many other factors contribute. We explore this etiology through an examination of the current literature and existing evidence on patients with collagen vascular diseases, such as Ehlers-Danlos syndrome...
October 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27799058/next-generation-sequencing-and-a-novel-col3a1-mutation-associated-with-vascular-ehlers-danlos-syndrome-with-severe-intestinal-involvement-a-case-report
#5
Francesca Cortini, Barbara Marinelli, Manuela Seia, Barbara De Giorgio, Angela Cecilia Pesatori, Nicola Montano, Alessandra Bassotti
BACKGROUND: The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments. CASE PRESENTATION: We present a case of a 38-year-old Italian woman who was diagnosed as having the vascular type of Ehlers-Danlos syndrome...
October 31, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27745832/periodontal-ehlers-danlos-syndrome-is-caused-by-mutations-in-c1r-and-c1s-which-encode-subcomponents-c1r-and-c1s-of-complement
#6
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27743245/a-review-of-the-genetics-of-intracranial-berry-aneurysms-and-implications-for-genetic-counseling
#7
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27687326/arterial-complications-of-vascular-ehlers-danlos-syndrome
#8
REVIEW
Matthew J Eagleton
BACKGROUND: Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the medium-sized arteries. Complications involving the hollow organs, such as spontaneous colonic perforation, are observed as well...
December 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27555128/peripheral-nerve-block-in-patients-with-ehlers-danlos-syndrome-hypermobility-type-a-case-series
#9
Andrew E Neice, Eryn E Stubblefield, Glenn E Woodworth, Michael F Aziz
STUDY OBJECTIVE: Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy...
September 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27488172/vascular-type-ehlers-danlos-syndrome-is-associated-with-platelet-dysfunction-and-low-vitamin-d-serum-concentration
#10
Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser, René Wildenauer
BACKGROUND: The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations. RESULTS: 22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27440102/phenotypic-variability-and-diffuse-arterial-lesions-in-a-family-with-loeys-dietz-syndrome-type-4
#11
Jean-Michaël Mazzella, Michael Frank, Patrick Collignon, Maud Langeois, Anne Legrand, Xavier Jeunemaitre, Juliette Albuisson
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called Loeys-Dietz syndrome type 4 (LDS4). We report the clinical characterization of a LDS4 French family with sudden deaths and diffuse vascular lesions, caused by a frameshift mutation in TGFβ2 gene: c...
July 21, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27306637/small-fiber-neuropathy-is-a-common-feature-of-ehlers-danlos-syndromes
#12
Daniele Cazzato, Marco Castori, Raffaella Lombardi, Francesca Caravello, Eleonora Dalla Bella, Antonio Petrucci, Paola Grammatico, Chiara Dordoni, Marina Colombi, Giuseppe Lauria
OBJECTIVE: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). METHODS: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded...
July 12, 2016: Neurology
https://www.readbyqxmd.com/read/27295357/recognizing-vascular-ehlers-danlos-syndrome-type-iv-in-the-newborn
#13
Caoimhe McKenna, Anthony Vandersteen, Emma Wakeling, Francis M Pope, Neeti Ghali
No abstract text is available yet for this article.
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27293936/hemodynamic-instability-after-low-energy-thigh-contusion-caused-by-injury-to-the-femoral-artery-a-case-report-and-literature-review
#14
Juan Miguel Rodríguez-Roiz, José Ballesteros-Betancourt, Raquel García-Tarriño, Victor Antonio Rodríguez-Roiz, Manuel Llusa
Acute vascular injuries have been described in relation to high-energy trauma accidents or in patients undergoing surgery in the femoral area. We describe a healthy patient who sustained a direct, low-energy contusion in the thigh and presented haemodynamic instability. Arteriography was used to locate the point of bleeding, and embolisation and vessel occlusion were carried out to stop the haemorrhage. The genetic study identified the COL3A1 gene mutation; accordingly, the patient was diagnosed with the Ehlers-Danlos syndrome type IV (vascular type)...
2016: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/27259332/-rare-syndromes-in-intensive-care-medicine-presentation-of-two-cases
#15
A Gierlinger, P Siostrzonek, J Reisinger
This article presents two cases of young women with spontaneous life-threatening bleeding events. Both had a history of gastrointestinal rupture or arterial dissection. Based on their medical history and genetic testing, Ehlers-Danlos syndrome (EDS) IV (vascular type) was diagnosed. In this very rare disorder which accounts for only 5 % of all EDS cases, fibroblasts synthesize reduced and abnormal procollagen type III. This is caused by mutations in the COL3A1 gene coding for type III procollagen. Life expectancy in these patients is significantly reduced...
June 2016: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/27216377/spontaneous-bilateral-cervical-internal-carotid-and-vertebral-artery-dissection-in-a-japanese-patient-without-collagen-vascular-disease-with-special-reference-to-single-nucleotide-polymorphisms
#16
Arata Abe, Chikako Nito, Yuki Sakamoto, Akane Nogami, Hiroyuki Hokama, Shiro Takahashi, Kumiko Kirita, Masayuki Ueda, Yoshiro Ishimaru, Kazumi Kimura
Spontaneous cervical artery dissection (sCAD) is a major cause of ischemic stroke in young adults. Frequently, sCAD involves multiple neck arteries, accounting for 13%-28% of the total sCAD cases. However, little is known about factors related to multiple sCAD. In this case, a 52-year-old man was admitted due to headache without aura. There was a personal history of migraine with aura and a family history of similar symptoms. The patient's younger brother had a left vertebral artery (VA) dissecting aneurysm and underwent endovascular occlusion of his parent artery at the age of 48...
August 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27206743/systemic-multiple-aneurysms-caused-by-vascular-ehlers-danlos-syndrome
#17
Xinyu Gui, Fangda Li, Lingeer Wu, Yuehong Zheng
Systemic multiple aneurysms are rare and usually associated with collagen tissue disease, such as Ehlers-Danlos syndrome (EDS) or Marfan syndrome. In the present case, we describe a 39-year-old male patient with systemic multiple aneurysms and acute intraperitoneal hemorrhage who was clinically diagnosed with vascular EDS. Coil embolization of the distal segment of the common hepatic artery was performed, which resolved the patient's symptoms. With this case presentation, we aim to increase the awareness of vascular EDS among clinicians and emphasize the extreme fragility of the arteries in patients with vascular EDS...
July 2016: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/27149304/further-delineation-of-fkbp14-related-ehlers-danlos-syndrome-a-patient-with-early-vascular-complications-and-non-progressive-kyphoscoliosis-and-literature-review
#18
Chiara Dordoni, Claudia Ciaccio, Marina Venturini, Piergiacomo Calzavara-Pinton, Marco Ritelli, Marina Colombi
FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, FKBP14, encodes a member of the F506-binding family of peptidyl-prolyl cis-trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel FKBP14 mutation, and compare his phenotype with those available in literature...
August 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27063078/the-real-malady-of-marcel-proust-and-what-it-reveals-about-diagnostic-errors-in-medicine
#19
Yellowlees Douglas
Marcel Proust, author of À La Recherche du Temps Perdu, was considered a hypochondriac not only by the numerous specialists he consulted during his lifetime but also by every literary critic who ventured an opinion on his health, among them several clinicians. However, Proust's voluminous correspondence, as detailed in its attention to his every symptom as his novel, provides valuable clues to Proust's real, organic, and rare illness. Proust, in fact, was not only genuinely ill but far sicker than he even he believed, most likely suffering from the vascular subtype of Ehlers-Danlos Syndrome...
May 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27011056/targeted-next-generation-sequencing-makes-new-molecular-diagnoses-and-expands-genotype-phenotype-relationship-in-ehlers-danlos-syndrome
#20
Ruwan A Weerakkody, Jana Vandrovcova, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A Black, David Ferguson, Nicholas J Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F Michael Pope, Timothy J Aitman
PURPOSE: Ehlers-Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort. METHODS: We developed and applied PCR-based NGS assays for targeted, unbiased sequencing of 12 collagen and aortopathy genes to a cohort of 177 unrelated EDS patients...
November 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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