A review of Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients. (Source: Journal of the American Academy of Physician Assistants)
Source: Journal of the American Academy of Physician Assistants - March 27, 2020 Category: Primary Care Tags: CME: Inherited Disorders Source Type: research

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.
We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases. PMID: 32174067 [PubMed - in process] (Source: Journal of Korean Medical Science)
Source: Journal of Korean Medical Science - March 18, 2020 Category: Biomedical Science Tags: J Korean Med Sci Source Type: research

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Abstract Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twenty-four individual case reports/series and 3 longer case-control studies, reporting on a total of 84 individuals with a clinical diagnosis of EDS, were included in the data analysis. The main dental features listed in classical EDS were pulp calcif...
Source: Acta Dermato-Venereologica - March 9, 2020 Category: Dermatology Authors: Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM Tags: Acta Derm Venereol Source Type: research

Delineation of musculocontractural Ehlers –Danlos Syndrome caused by dermatan sulfate epimerase deficiency
ConclusionMcEDS ‐DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS ‐CHST14. However, the burden of symptoms seems lower in patients with mcEDS ‐DSE. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2020 Category: Genetics & Stem Cells Authors: Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho Tags: ORIGINAL ARTICLE Source Type: research

Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model
This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement. (Source: Journal of Vascular Surgery)
Source: Journal of Vascular Surgery - February 27, 2020 Category: Surgery Authors: Liz Sage, Melissa L. Russo, Peter H. Byers, John Demasi, Shaine A. Morris, Lauren N. Puryear, Daphne S. Fulton, Sherene Shalhub, Vascular Ehlers-Danlos Syndrome Research Collaborative Source Type: research

Combined nutcracker and Ehlers-Danlos syndromes: A case report
Nutcracker syndrome refers to the clinical manifestations of left renal vein compression between the superior mesenteric artery and the abdominal aorta, causing urinary changes and low back pain. (Source: EJVES Extra)
Source: EJVES Extra - February 26, 2020 Category: Surgery Authors: Alexandre Campos Moraes Amato, Arthur Ethan Cardoso da Silva, Isabela Moraes Bernal, Julia Cuginotti de Oliveira, Ma ísa Di Paschoal Almeida Ribeiro, Priscila Souza Schinzari, Ricardo Virgínio dos Santos Tags: Case Report Source Type: research

Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome
Individuals with hypermobility spectrum disorder or hypermobile Ehlers-Danlos Syndrome (HSD/hEDS) are increasingly encountered by gastroenterologists and pose complex clinical challenges. Uncontrolled studies have found functional gastrointestinal disorders (FGIDs) to be common in patients with HSD/hEDS. Some patients have somatic symptoms (medically unexplained symptoms) that might affect FGIDs. We performed a case –control study to determine the prevalence of and factors associated with Rome IV FGIDs in subjects with HSD/hEDS compared with age- and sex- matched population-based controls. (Source: Clinical Gastroent...
Source: Clinical Gastroenterology and Hepatology - February 25, 2020 Category: Gastroenterology Authors: Ching Y. Lam, Olafur S. Palsson, William E. Whitehead, Ami D. Sperber, Hans Tornblom, Magnus Simren, Imran Aziz Source Type: research

IJERPH, Vol. 17, Pages 1359: Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study
Conclusions: The use of custom-made foot orthoses help in the management of the symptoms by participants. This study could contribute to the foot specialists being considered as an additional member in multidisciplinary teams that are trying to develop an approach for patients with EDS. (Source: International Journal of Environmental Research and Public Health)
Source: International Journal of Environmental Research and Public Health - February 20, 2020 Category: Environmental Health Authors: Reina-Bueno V ázquez-Bautista Palomo-Toucedo Dom ínguez-Maldonado Castillo-L ópez Munuera-Mart ínez Tags: Article Source Type: research

An old drug for a rare disease: The example of celiprolol for vascular Ehlers-Danlos syndrome.
Abstract Vascular Ehlers-Danlos syndrome (OMIM 130050, 1/150,000 birth) is caused by mutations in collagen 3A1 gene. It is associated with severe phenotype associating early arterial dissection and rupture, digestive and uterine perforations, and skin and joints fragility. Until recently, no treatment was available. Celiprolol, a beta1 antagonist with beta2 partial antagonist properties betablocker was tested in a randomized, controlled trial. We could show that this compound was associated with a 3-fold decrease in major events related to the disease. This effect was similar in molecular-prove...
Source: Therapie - February 13, 2020 Category: Psychiatry & Psychology Authors: Boutouyrie P Tags: Therapie Source Type: research

New Screening Tool for Aortic Root Dilation in Children with Marfan Syndrome and Marfan-Like Disorders
This study aimed to introduce a simple screening method for identifying aortic root dilation in children. The study population consisted of 190 children who were diagnosed with Marfan syndrome or Marfan-like disorders. The aortic root ratio (ARr) was formulated. The value of the ARr was compared in each patient with the results inz-scores, which were obtained using on-line calculators based on the most widespread nomograms. The optimal cut-off value of the ARr was ≥ 18.7. At this cut-off point, the sensitivity of the ARr ranged from 88.3% to 100% and the specificity ranged from 94% to 97.8%. All of the patients i...
Source: Pediatric Cardiology - January 31, 2020 Category: Cardiology Source Type: research

Survey of Ehlers ‒Danlos Patients’ ophthalmic surgery experiences
ConclusionsPatients with EDS may have elevated risk of postoperative ophthalmic surgical complications. It would seem reasonable to systemically and prospectively explore how patients with EDS respond to ophthalmic surgery. Furthermore, it would seem circumspect to ask surgical candidates patients about whether they carry a diagnosis of EDS or have signs and symptoms of EDS prior to surgery. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 27, 2020 Category: Genetics & Stem Cells Authors: Anita Louie, Catherine Meyerle, Clair Francomano, Divya Srikumaran, Farhan Merali, Jefferson J. Doyle, Kraig Bower, Lara Bloom, Michael V. Boland, Nicholas Mahoney, Yassine Daoud, Eric L. Singman Tags: ORIGINAL ARTICLE Source Type: research

The use of selective laser melting in the fabrication of maxillary and mandibular metal base complete dentures for a patient with Ehlers-Danlos syndrome: A clinical report
Publication date: Available online 17 January 2020Source: The Journal of Prosthetic DentistryAuthor(s): Francisco X. Azpiazu-Flores, Damian J. Lee, Fengyuang ZhengAbstractEhlers-Danlos syndrome is a rare hereditary disorder of the connective tissue that can have oral manifestations that can complicate the prosthodontic rehabilitation of edentulous patients. Intraoral features such as fragile mucosa, impaired healing, limited intraoral space, and a deep palatal vault can compromise treatment with conventional complete dentures. This clinical report describes the management of a 30-year-old edentulous man with Ehlers-Danlos ...
Source: The Journal of Prosthetic Dentistry - January 18, 2020 Category: Dentistry Source Type: research

Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review
AbstractHypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are heritable connective tissue disorders associated with pain, activity limitations and participation restrictions. A key feature is reported to be reduced stiffness and increased extensibility and elasticity of connective tissues. Yet diagnosis relies on assessment of joint range of motion, which may be influenced by other factors, and semi-quantitative assessment of forearm skin extensibility. The  objective of this systematic review was to determine if quantitative measures of tissue mechanics can discriminate between hEDS...
Source: Clinical Rheumatology - January 18, 2020 Category: Rheumatology Source Type: research

The use of selective laser melting in the fabrication of maxillary and mandibular metal base complete dentures for a patient with Ehlers-Danlos syndrome: A clinical report
Ehlers-Danlos syndrome is a rare hereditary disorder of the connective tissue that can have oral manifestations that can complicate the prosthodontic rehabilitation of edentulous patients. Intraoral features such as fragile mucosa, impaired healing, limited intraoral space, and a deep palatal vault can compromise treatment with conventional complete dentures. This clinical report describes the management of a 30-year-old edentulous man with Ehlers-Danlos syndrome by using metal base complete dentures fabricated with selective laser melting (SLM) technology. (Source: Journal of Prosthetic Dentistry)
Source: Journal of Prosthetic Dentistry - January 17, 2020 Category: Dentistry Authors: Francisco X. Azpiazu-Flores, Damian J. Lee, Fengyuang Zheng Tags: Clinical Report Source Type: research

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome
Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS. (Source: Autonomic Neuroscience: Basic and Clinical)
Source: Autonomic Neuroscience: Basic and Clinical - January 10, 2020 Category: Neuroscience Authors: Amanda J. Miller, Lauren E. Stiles, Timothy Sheehan, Rebecca Bascom, Howard P. Levy, Clair Francomano, Amy C. Arnold Source Type: research

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.
Abstract Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS. An additional 24% of participants had generalized joint hypermobility without meeting hED...
Source: Autonomic Neuroscience - January 10, 2020 Category: Neuroscience Authors: Miller AJ, Stiles LE, Sheehan T, Bascom R, Levy HP, Francomano CA, Arnold AC Tags: Auton Neurosci Source Type: research

The Many Facets of Hypermobile Ehlers-Danlos Syndrome.
Authors: Riley B Abstract Of the 13 subtypes of Ehlers-Danlos Syndromes (EDSs) identified in the 2017 international classification of EDSs, 12 have a recognized, associated genetic mutation. However, hypermobile EDS (hEDS) currently has no identifiable associated gene. Therefore, patients with hEDS are identified through a set of clinical diagnosis guidelines and criteria, which are meant to differentiate hEDS from other hypermobile joint conditions and other EDSs subtypes. In this article, the authors provide an overview of hEDS symptoms and comborbidities, current treatment options, and the clinical criteria curr...
Source: Journal of the American Osteopathic Association - January 8, 2020 Category: Complementary Medicine Tags: J Am Osteopath Assoc Source Type: research

Genes, Vol. 11, Pages 43: Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
uhei Yamada Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE). Thus far, 41 patients from 28 families with mcEDS-CHST14 and five patients from four families with mcEDS-DSE have been described in the literature. Clinical features comprise multisystem congenital malformations and progressive connective tissue fragility-related manifestations. This review outlines recent advances i...
Source: Genes - December 29, 2019 Category: Genetics & Stem Cells Authors: Tomoki Kosho Shuji Mizumoto Takafumi Watanabe Takahiro Yoshizawa Noriko Miyake Shuhei Yamada Tags: Review Source Type: research

Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings
Publication date: Available online 26 December 2019Source: Actas Dermo-Sifiliográficas (English Edition)Author(s): M. Herrero-Moyano, L. Noguera-Morel, A. Torrelo, A. Hernández-Martín (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - December 27, 2019 Category: Dermatology Source Type: research

Gynecologic Management Of Pediatric And Adolescent Patients With Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder resulting in abnormal collagen synthesis leading to skin, joint, ligament, blood vessel and organ abnormalities. Studies in adult women show an association with heavy menstrual bleeding, dysmenorrhea, and pelvic organ prolapse. We aimed to evaluate gynecologic complaints in pediatric and adolescent patients with EDS and their management by Pediatric and Adolescent Gynecology (PAG) Providers. (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - December 25, 2019 Category: OBGYN Authors: Angela Marie C. Hernandez, Jennifer E. Dietrich Source Type: research

Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series
Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are characterised by hypermobility of joints and cardiovascular morbidity, and typical orofacial signs and symptoms are associated with both. Basic knowledge of these should prevent late-stage diagnosis and enable adequate management. This case series comprises all EDS and MFS patients who consulted the Department of Oral and Maxillofacial Surgery at University Hospitals Leuven between 2005 and 2017. Thirty patients had EDS or MFS, and in seven the diagnosis was made based on temporomandibular dysfunction or craniofacial dysmorphism. (Source: The British Journal of Ora...
Source: The British Journal of Oral and Maxillofacial Surgery - December 19, 2019 Category: ENT & OMF Authors: N. Van Camp, T. Aerden, C. Politis Source Type: research

Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-α 1 chain of collagen III. Loss of structural integrity of the extracellular matrix is believed to drive the signs and symptoms of this condition, including spontaneous arterial dissection and/or rupture, the major cause of mortality. We created 2 mouse models of vEDS that carry heterozygous mutations in Col3a1 that encode glycine substitutions analogous to those found in patients, and showed that signaling abnormalities in the PLC/IP3/PKC/ERK pathway (p...
Source: Journal of Clinical Investigation - December 18, 2019 Category: Biomedical Science Authors: Caitlin J. Bowen, Juan Francisco Calderón Giadrosic, Zachary Burger, Graham Rykiel, Elaine C. Davis, Mark R. Helmers, Kelly Benke, Elena Gallo MacFarlane, Harry C. Dietz Source Type: research

Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series
Publication date: Available online 16 December 2019Source: British Journal of Oral and Maxillofacial SurgeryAuthor(s): N. Van Camp, T. Aerden, C. PolitisAbstractEhlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are characterised by hypermobility of joints and cardiovascular morbidity, and typical orofacial signs and symptoms are associated with both. Basic knowledge of these should prevent late-stage diagnosis and enable adequate management. This case series comprises all EDS and MFS patients who consulted the Department of Oral and Maxillofacial Surgery at University Hospitals Leuven between 2005 and 2017. Thirty pat...
Source: British Journal of Oral and Maxillofacial Surgery - December 18, 2019 Category: ENT & OMF Source Type: research

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes
Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorders characterized by soft connective tissue alteration like joint hypermobility and skin hyper-extensibility. We previously identified heterozygous missense mutations in the C1R and C1S genes, coding for the complement C1 proteases, in patients affected by periodontal EDS, a specific EDS subtype hallmarked by early severe periodontitis leading to premature loss of teeth and connective tissue alterations. Up to now, there is no clear molecular link relating the nominal role of the C1r and C1s proteases, which is to activate the classical comple...
Source: Frontiers in Immunology - December 18, 2019 Category: Allergy & Immunology Source Type: research

Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives.
Conclusions: The complexity and existential internal conflict related to physical exercise seemed to be a huge dilemma among persons with Hereditable Thoracic Aortic Disease. The balance between safe and healthy activities should be a research priority in these groups.Implications for rehabilitationPhysical activity and exercise pose a difficult dilemma for patients with Hereditable Thoracic Aortic Disease, in terms of what is healthy and what is dangerous.People with Hereditable Thoracic Aortic Disease need help to minimize concern, stress and anxiety associated with exercise.Individualized adapted programs including phys...
Source: Disability and Rehabilitation - December 17, 2019 Category: Rehabilitation Authors: Velvin G, Johansen H, Vardeberg K, Sjögren Fugl-Meyer K, Wilhelmsen JE, Lidal I Tags: Disabil Rehabil Source Type: research

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
In conclusion, we generated the first viable animal models for spEDS-B4GALT7, and show that in early development the human spEDS-B4GALT7 phenotype is faithfully mimicked in these zebrafish models. Our findings underscore a key role for β4GalT7 in early development of cartilage, bone and muscle. These models will lead to a better understanding of spEDS-B4GALT7 and can be used in future efforts focusing on therapeutic applications. PMID: 31862401 [PubMed - as supplied by publisher] (Source: Matrix Biology)
Source: Matrix Biology - December 17, 2019 Category: Molecular Biology Authors: Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A, Malfait F Tags: Matrix Biol Source Type: research

Ehlers-Danlos syndrome: A rare disorder
No abstract available (Source: Nursing Made Incredibly Easy)
Source: Nursing Made Incredibly Easy - December 10, 2019 Category: Nursing Tags: Department: Patho Puzzler Source Type: research

Contrôle de l’orientation et de la stabilisation posturale dans le syndrome d’Ehlers-Danlos de type hypermobile
DiscussionCette étude a permis de mettre à jour une altération de la capacité de ces patients à utiliser les afférences proprioceptives tant pour le contrôle de l’orientation que de la stabilisation posturale. (Source: Neurophysiologie Clinique)
Source: Neurophysiologie Clinique - December 7, 2019 Category: Neuroscience Source Type: research

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome
(Source: Frontiers in Immunology)
Source: Frontiers in Immunology - December 4, 2019 Category: Allergy & Immunology Source Type: research

COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
This article is protected by copyright. All rights reserved. PMID: 31794058 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 3, 2019 Category: Genetics & Stem Cells Authors: Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M Tags: Clin Genet Source Type: research

Bent Out of Shape: A Case of Abdominal Pain
We present the case of a 9-year-old boy with abdominal pain and retching. An abdominal computed tomography revealed free air under the diaphragm, and surgical exploration showed perforation of the sigmoid colon. Ultimately, he was diagnosed with vEDS. We review the literature and discuss the clinical presentation, diagnosis, and life-threatening crises associated with vEDS. (Source: Pediatric Emergency Care)
Source: Pediatric Emergency Care - December 1, 2019 Category: Emergency Medicine Tags: Illustrative Cases Source Type: research

Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome
To the Editor Singman and Doyle point out that all articles mentioning the association of angioid streaks with Ehlers-Danlos syndrome (EDS) ultimately refer to the same article published in 1966 (in which 2 individuals with EDS from the same family were demonstrated to have angioid streaks). They also report that, of 284 patients with EDS seen at the Wilmer Eye Institute, none had angioid streaks. (Source: JAMA Ophthalmology)
Source: JAMA Ophthalmology - December 1, 2019 Category: Opthalmology Source Type: research

Celiprolol Treatment of Patients With Vascular Ehlers-Danlos Syndrome
Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is a monogenetic disease caused by a mutation in procollagen 3A1. Clinical manifestations are arterial ruptures and dissections, as well as spontaneous ruptures of the colon, oesophagus and uterus. Expected survival is short, in historical cohorts approximately 50 years. In 2010 a French-Belgian randomized controlled trial (RCT), including 53 patients, reported a hazard ratio of only 0.36 of arterial events if patients were treated with the betablocker celiprolol [1], combining β1-adrenoceptor antagonist and β2-adrenoceptor agonist actions. (Source: European Jo...
Source: European Journal of Vascular and Endovascular Surgery - December 1, 2019 Category: Surgery Authors: Hassan Baderkhan, Anna Stenborg, Anders H ägg, Anders Wanhainen, Martin Björck, Uppsala University Hospital Source Type: research

Genes, Vol. 10, Pages 967: Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome
This study refines the phenotype recently delineated in association with biallelic null alleles in TNXB, and adds three novel variants to its mutational repertoire. Unusual digital anomalies seem confirmed as possibly peculiar of TNXB-clEDS, while vascular fragility could be more than a chance association also in this Ehlers-Danlos syndrome type. (Source: Genes)
Source: Genes - November 25, 2019 Category: Genetics & Stem Cells Authors: Lucia Micale Vito Guarnieri Bartolomeo Augello Orazio Palumbo Emanuele Agolini Valentina Maria Sofia Tommaso Mazza Antonio Novelli Massimo Carella Marco Castori Tags: Article Source Type: research

Splenic Rupture Secondary to Vascular Ehlers –Danlos Syndrome Managed by Coil Embolization of the Splenic Artery
Conclusions There are only four reports of V-EDS causing splenic rupture in the literature to date. These patients were all adults and only one had not previously been diagnosed with V-EDS. All underwent splenectomy. While V-EDS presenting with abdominal visceral rupture in children has been reported, this is the first report of a child with V-EDS presenting with splenic rupture. It is the only case of splenic rupture secondary to V-EDS that has been managed minimally invasively by embolization. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  | &nb...
Source: European Journal of Pediatric Surgery Reports - November 22, 2019 Category: Surgery Authors: Kamalanathan, Keisha C. Barnacle, Alex M. Holbrook, Charlotte Rees, Clare Tags: Review Article Source Type: research

The challenge of simultaneous major aortic surgery and pectus excavatum repair in a patient with Ehlers ‐Danlos type IV syndrome
AbstractA unique case of a patient with Ehlers ‐Danlos type IV syndrome was referred with aortic root aneurysm and previous cosmetic primary repair of pectus excavatum (PE) through a solid silicone onlay prosthesis. The patient underwent successful removal of the silicone prosthesis and one‐stage ascending aortic root replacement with concom itant Nuss procedure for repair of the PE. (Source: Journal of Cardiac Surgery)
Source: Journal of Cardiac Surgery - November 15, 2019 Category: Cardiovascular & Thoracic Surgery Authors: Georgios Dimitrakakis, Syed Aidil Hizman Syed Nong Chek, Malgorzata Kornaszewska, Indu Deglurkar Tags: CASE REPORT Source Type: research

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome
We report extensive functional studies of 16 C1R variants associated with pEDS by in-vitro overexpression studies in HEK293T cells followed by western blot, size exclusion chromatography and surface plasmon resonance analyses. Patient-derived skin fibroblasts were analyzed by western blot and Enzyme-linked Immunosorbent Assay (ELISA). Overexpression of C1R variants in HEK293T cells revealed that none of the pEDS variants was integrated into the C1 complex but cause extracellular presence of catalytic C1r/C1s activities. Variants showed domain-specific abnormalities of intracellular processing and secretion with preservatio...
Source: Frontiers in Immunology - November 5, 2019 Category: Allergy & Immunology Source Type: research

Sudden death in acrogeria Gottron type
AbstractIn this paper, we describe the case of a 29-year-old Caucasian male who was reported dead in his home. In 2010, a diagnosis of acrogeria, Gottron type was obtained by genetic analysis of a COL3A1 gene mutation. External examination showed typical characteristics of acrogeria, Gottron type. Autopsy showed a full-thickness laceration in the inferior vena cava wall, which caused hemorrhage and death. Samples of inferior vena cava were processed by Masson trichrome staining, which revealed a reduction in vessel wall thickness and a decrease in the amount of elastic fibers. An antibody reaction with BCL-2 was intensely ...
Source: Forensic Science, Medicine, and Pathology - October 31, 2019 Category: Forensic Medicine Source Type: research

Genes, Vol. 10, Pages 843: Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant
arina Colombi The Ehlers-Danlos syndromes (EDS) constitute a clinically and genetically heterogeneous group of connective tissue disorders. Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles the classical form of EDS, though lacking atrophic scarring. Although most patients display a well-defined phenotype, the diagnosis of TNX-deficiency is often delayed or overlooked. Here, we described an additional patient with clEDS due to a homozygous null-mutation in the TNXB gene. A review of the literature was performed, summarizing the most important and...
Source: Genes - October 25, 2019 Category: Genetics & Stem Cells Authors: Daisy Rymen Marco Ritelli Nicoletta Zoppi Valeria Cinquina Cecilia Giunta Marianne Rohrbach Marina Colombi Tags: Article Source Type: research

An in  vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.
CONCLUSIONS: Osteogenesis imperfecta patients with haploinsufficient mutations had higher percentage of anisotropic collagen fibers alignment compared to other patient groups; all patients had a lower percentage of anisotropic samples compared to healthy controls. This correlated with higher average stiffness in the control group. Glycosaminoglycan content was lower in the control and haploinsufficient groups. In cells with PLOD1 mutations, there were no differences in PLOD2 expression. This proof of concept study was able to show differences in collagen fiber orientation between different patient groups which can potentia...
Source: Biochemical and Biophysical Research communications - October 24, 2019 Category: Biochemistry Authors: Micha D, Pals G, Smit TH, Ghazanfari S Tags: Biochem Biophys Res Commun Source Type: research

DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
In this study we provide clinical and molecular presentation of two new patients with DSE related mcEDS. Analysing clinical exome data, a homozygous pathogenic DSE variant, c.1150_1157del p.(Pro384Trpfs*9), was identified in a 32 year old man with bilateral congenital talipes equinovarus, characteristic facial features, myopia, hyperextensible skin at the elbows, significant palmar wrinkling, bilateral inguinal hernias and chronic leg, back and joint pain. Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles. The varia...
Source: European Journal of Medical Genetics - October 23, 2019 Category: Genetics & Stem Cells Authors: Schirwani S, Metcalfe K, Wagner B, Berry I, Sobey G, Jewell R Tags: Eur J Med Genet Source Type: research

Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound
The objective of the study was to compare the acromiohumeral distance (AHD) between patients diagnosed with hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) and healthy controls by evaluating the relative amount the tendon occupies in the subacromial area. Furthermore, the aim was to evaluate if there was a change in AHD with arm elevation within and between groups. (Source: Journal of Shoulder and Elbow Surgery)
Source: Journal of Shoulder and Elbow Surgery - October 16, 2019 Category: Orthopaedics Authors: Birgitte Hougs Kj ær, Inge de Wandele, Valentien Spanhove, Birgit Juul-Kristensen, Ann M. Cools Source Type: research

Genes, Vol. 10, Pages 799: Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6
Superti-Furga Garavelli Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective t...
Source: Genes - October 12, 2019 Category: Genetics & Stem Cells Authors: Caraffi Maini Ivanovski Pollazzon Giangiobbe Valli Rossi Sassi Faccioli Rocco Magnani Campos-Xavier Unger Superti-Furga Garavelli Tags: Article Source Type: research

Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: A case-control study.
Conclusion: Our findings provide valuable basal levels for conducting gene function analysis of joint hypermobility-related connective tissue disorders. PMID: 31594391 [PubMed - as supplied by publisher] (Source: Connective Tissue Research)
Source: Connective Tissue Research - October 10, 2019 Category: Research Tags: Connect Tissue Res Source Type: research

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
This article is protected by copyright. All rights reserved. PMID: 31600821 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 10, 2019 Category: Genetics & Stem Cells Authors: Ritelli M, Rovati C, Venturini M, Chiarelli N, Cinquina V, Castori M, Colombi M Tags: Clin Genet Source Type: research

Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases [EXTRACRANIAL VASCULAR]
BACKGROUND AND PURPOSE: There is a general assumption in the cerebrovascular literature that there is an association between carotid artery tortuosity and connective tissues disease; however, this has not been firmly established. The purpose of this study was to determine the prevalence of carotid artery tortuosity in patients with connective tissue diseases relative to matched controls. MATERIALS AND METHODS: Patients with previous CTA or MRA and a diagnosis of connective tissue diseases were identified and compared with a cohort of age-matched controls. Radiologists blinded to the diagnosis reviewed the images and evalu...
Source: American Journal of Neuroradiology - October 8, 2019 Category: Radiology Authors: Welby, J. P., Kim, S. T., Carr, C. M., Lehman, V. T., Rydberg, C. H., Wald, J. T., Luetmer, P. H., Nasr, D. M., Brinjikji, W. Tags: EXTRACRANIAL VASCULAR Source Type: research

Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders.
Abstract Joint hypermobility may be syndromic or nonsyndromic, asymptomatic or symptomatic. However, asymptomatic joint hypermobility can cause repetitive use injury, alter biomechanics, or become symptomatic later in life. Symptomatic joint hypermobility can result from soft tissue injury or muscular strain caused by muscular imbalance. Treatment is straightforward once joint hypermobility is recognized. Generalized joint hypermobility can be assessed using a standardized in-office examination. Generalized joint hypermobility may also be a feature of a heritable connective tissue disorder with other systemic find...
Source: The Medical Clinics of North America - October 6, 2019 Category: General Medicine Authors: Tinkle BT, Levy HP Tags: Med Clin North Am Source Type: research

EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations
We describe a 46-year-old woman born to non-consanguineous healthy French parents, who reported slowly progressive lower limbs weakness since 28 years. She had difficulties in squatting, getting up from a chair, and, from 35 years, climbing stairs. She also reported myalgias, peripheral vascular disease in hands, joint hypermobility, multiples sprains, dislocation of the 5th finger, conjunctival hemorrhages, and colon perforation during a colonoscopy. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: M. Brisset, C. Metay, N. Romero, R. Carlier, C. Badosa, C. Marques, C. Jimenez-Mallebrera, P. Laforet, E. Malfatti Source Type: research

Vascular Ehlers-Danlos syndrome in two Polish patients: identification of two novel COL3A1 gene mutations.
PMID: 31575845 [PubMed - as supplied by publisher] (Source: Polish Heart Journal)
Source: Polish Heart Journal - October 1, 2019 Category: Cardiology Authors: Konieczyńska M, Wypasek E, Karpiński M, Komar M, Symoens S, Coucke PJ, Undas A Tags: Kardiol Pol Source Type: research