4,053 results match your criteria Ehlers-Danlos Syndrome


Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability.

Arthrosc Tech 2020 May 25;9(5):e657-e662. Epub 2020 Apr 25.

Division of Orthopaedic Surgery, Department of Surgery, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

Recurrent multidirectional shoulder instability is a common clinical presentation in certain demographics and sporting groups. One such demographic is patients with connective tissue disorders (CTD) such as Ehlers-Danlos syndrome (EDS), in whom shoulder pathologies are exacerbated owing to ligamentous laxity. Features of this laxity can present as both anterior and posterior shoulder instability, which are problematic sources of shoulder pain. Read More

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http://dx.doi.org/10.1016/j.eats.2020.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253780PMC

Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience.

Cureus 2020 Apr 29;12(4):e7881. Epub 2020 Apr 29.

Gastroenterology, Cleveland Clinic Florida, Weston, USA.

Introduction Ehlers-Danlos syndrome (EDS), specifically the hypermobility type (hEDS), is associated with a variety of gastrointestinal (GI) conditions. This study aims to evaluate the prevalence of and factors associated with gut dysmotility in patients with hEDS. Methods This is a retrospective study of hEDS patients conducted at the Cleveland Clinic's Center for Personalized Genetic Healthcare between January 2007 and December 2017. Read More

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http://dx.doi.org/10.7759/cureus.7881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255528PMC

Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review".

Clin Rheumatol 2020 Jun 2. Epub 2020 Jun 2.

Department of Allied Health Professions, Faculty of Health & Applied Sciences, University of the West of England, Blackberry Hill, Bristol, BS16 1DD, UK.

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http://dx.doi.org/10.1007/s10067-020-05192-3DOI Listing

Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome.

Pain 2020 May 29. Epub 2020 May 29.

Division of Rheumatology, Rush University Medical Center, Chicago, IL, USA.

Classical Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder caused by heterozygous mutations in one of the type V collagen-encoding genes, COL5A1 or COL5A2. cEDS is characterized by generalized joint hypermobility and instability, hyperextensible, fragile skin and delayed wound healing. Chronic pain is a major problem in cEDS patients, but the underlying mechanisms are largely unknown, and studies in animal models are lacking. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000001935DOI Listing

Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome.

J Biol Chem 2020 Jun 1. Epub 2020 Jun 1.

Biochemistry, Boston University School of Medicine, United States.

Aortic carboxypeptidase-like protein (ACLP) is a collagen-binding extracellular matrix (ECM) protein that has important roles in wound healing and fibrosis. ACLP contains thrombospondin repeats, a collagen-binding discoidin domain, and a catalytically inactive metallocarboxypeptidase domain. Recently, mutations in the ACLP-encoding gene, AE-binding protein 1 (), have been discovered, leading to the identification of a new variant of Ehlers-Danlos syndrome (EDS) causing connective tissue disruptions in multiple organs. Read More

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http://dx.doi.org/10.1074/jbc.RA120.013902DOI Listing

Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report.

Eur J Obstet Gynecol Reprod Biol 2020 May 15;250:231-234. Epub 2020 May 15.

Department of Orthopaedics, Sri Sathya Sai Institute of Higher Medical Sciences, Whitefield, Bengaluru, India.

Ehlers-Danlos syndrome (EDS) is one of the commonest inheritable connective tissue disorders (CTD) affecting one in 5000 people globally. The incidence of bladder diverticula (BD) is reported to be 1.7% seen more commonly in children without any bladder outlet obstruction. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2020.05.001DOI Listing

Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.

BMC Pulm Med 2020 May 29;20(1):149. Epub 2020 May 29.

Division of Pulmonary Medicine, The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Heart and Lung, Wenzhou, Zhejiang, 325000, People's Republic of China.

Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene. Patients with vEDS rarely present with multiple pneumothoraces. The clinical features of this disease are not familiar to clinicians and are easily missed. Read More

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http://dx.doi.org/10.1186/s12890-020-1164-4DOI Listing

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

J Med Genet 2020 May 28. Epub 2020 May 28.

National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, UK

Background: The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in or . Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106689DOI Listing

Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis.

J Forensic Leg Med 2020 May 8;73:101969. Epub 2020 May 8.

Inonu University, Faculty of Medicine, Depertmant of Forensic Medicine, Malatya, Turkey.

Ehlers-Danlos Syndrome (EDS) is a connective tissue disease with heterogeneous subgroups. In type IV EDS, also known as vascular EDS (VEDS), the underlying genetic anomaly consists of a mutation of the COL3A1 gene encoding the type III procollagen. As a result of the mutation, pathological findings due to excessive brittleness of the tubular organs or vessels occur. Read More

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http://dx.doi.org/10.1016/j.jflm.2020.101969DOI Listing

A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.

Monaldi Arch Chest Dis 2020 May 20;90(2). Epub 2020 May 20.

Department of Heart and Great Vessels "A. Reale", Sapienza University of Rome.

There is an association between joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS) and different forms of orthostatic intolerance. Objective: to explore autonomic profile in a large cohort of adults with hEDS and hypermobility spectrum disorder (hEDS/HSD) with a multimodal approach. In this observational retrospective study, heart rate, blood pressure and baroreflex sensitivity were estimated in 102 hEDS/HSD subjects during deep breathing, Valsalva maneuver, standing up: 30-15 ratio, Head-Up Tilt and sustained handgrip. Read More

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http://dx.doi.org/10.4081/monaldi.2020.1286DOI Listing

The Effect of Pain Resilience on Experimental Pain Experience Across Different Stimuli.

Psychosom Med 2020 May 14. Epub 2020 May 14.

Ohio University, Athens, OH.

Objective: Pain resilience, one's ability to maintain behavioral engagement and adaptively regulate cognitions and emotions despite intense or prolonged pain, has been shown to protect against negative pain-related outcomes in experimental settings. A weakness of this research, and much of experimental pain research in general, has been the lack of rationale behind the selection of noxious stimuli which can activate different nociceptive fibers. The present study sought to determine if the relationship between pain resilience and pain ratings differed across stimuli based on the stimulated nociceptors. Read More

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http://dx.doi.org/10.1097/PSY.0000000000000823DOI Listing

Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome.

Am J Ophthalmol Case Rep 2020 Sep 4;19:100729. Epub 2020 May 4.

Hoopes Durrie Rivera Research Center, Hoopes Vision; 11820 State St, Draper, UT, 84020, USA.

Purpose: We describe the first case of Ehlers Danlos Syndrome (EDS) reported in the English language ophthalmic literature to have undergone Laser In Situ Keratomileusis (LASIK) surgery.

Observations: We review our patient's specific postoperative complications of myopic regression, Salzmann nodular degeneration, and dry eye syndrome, as well as the risks and consequences of performing LASIK on patients with this collagen disorder.

Conclusions And Importance: Refractive errors may prompt EDS patients to seek laser vision correction, placing them at increased risk for complications such as myopic regression, keratectasia, and dry eye syndrome. Read More

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http://dx.doi.org/10.1016/j.ajoc.2020.100729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225616PMC
September 2020

Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome.

Vascular 2020 May 19:1708538120925597. Epub 2020 May 19.

Section of Vascular Surgery, Minneapolis Heart Institute at Abbott Northwestern Hospital, Minneapolis, MN, USA.

Objectives: Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking.

Methods: The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. Read More

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http://dx.doi.org/10.1177/1708538120925597DOI Listing

Bariatric Surgery is feasible in patients with Ehlers-Danlos Syndrome.

Surg Obes Relat Dis 2020 Apr 11. Epub 2020 Apr 11.

Chirurgie Cancérologique, Digestive et Endocrinienne, Institut des Maladies de l'Appareil Digestif, Centre Hospitalo-universitaire de Nantes, Hôtel-Dieu, Nantes, France; L'Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes, France. Electronic address:

Background: Ehlers-Danlos syndrome (EDS) is a heterogeneous disease affecting connective tissues. EDS patients have a high susceptibility for developing anastomotic leak after visceral surgery. Although patients with EDS can also develop severe obesity and might be referred to bariatric surgery, there is just 1 case report in the literature regarding the outcomes of bariatric surgery in this specific context. Read More

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http://dx.doi.org/10.1016/j.soard.2020.03.033DOI Listing

Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.

Genes (Basel) 2020 May 13;11(5). Epub 2020 May 13.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. Read More

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http://dx.doi.org/10.3390/genes11050547DOI Listing

The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study.

Disabil Rehabil 2020 May 15:1-5. Epub 2020 May 15.

Center for Perioperative Optimization, Department of Surgery, Herlev Hospital, University of Copenhagen, Denmark.

Ehlers-Danlos syndrome (EDS) constitutes a group of connective tissue diseases with variable organ dysfunction. We aimed to examine the comorbidity burden in patients with EDS. A nationwide population-based cohort study linking data from Danish registers from the year 2000-2014. Read More

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http://dx.doi.org/10.1080/09638288.2020.1761890DOI Listing

Direct Distal Renal Artery Aneurysm Repair.

Eur J Vasc Endovasc Surg 2020 May 10. Epub 2020 May 10.

Vascular and Endovascular Surgery Department, University Hospital of La Pitié-Salpêtrière, Paris, France.

Objective: Treatment of renal artery aneurysms (RAA) remains controversial. Endovascular treatment has increased for main trunk and for very distal aneurysms, whereas for lesions located at the bifurcation surgical treatment seems to be a valid option. The goal of this study was to describe the technique of direct reconstruction of RAA and to report on outcomes. Read More

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http://dx.doi.org/10.1016/j.ejvs.2020.04.016DOI Listing

Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study.

Pain Res Manag 2020 27;2020:3586767. Epub 2020 Apr 27.

Faculty of Music, University of Toronto, Toronto, Ontario, Canada.

Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by joint hypermobility and skin extensibility and is often accompanied by chronic pain. Rhythmic sensory stimulation (RSS) can be defined as the stimulation of the senses in a periodic manner within a range of low frequencies. Music plus sound delivered through a vibroacoustic device is a form of RSS and has demonstrated utility in managing pain. Read More

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http://dx.doi.org/10.1155/2020/3586767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204284PMC

[Pulmonary vascular Ehlers-Danlos syndrome: a clinicopathological analysis of three cases].

Zhonghua Bing Li Xue Za Zhi 2020 May;49(5):473-475

Respiratory Pathology Center, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510180, China.

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http://dx.doi.org/10.3760/cma.j.cn112151-20190904-00482DOI Listing

Arthroscopic Ligamentum Teres Reconstruction: Minimum 2-year Patient Reported Outcomes with Sub-Analysis of Patients with Ehlers-Danlos Syndrome.

Arthroscopy 2020 Apr 28. Epub 2020 Apr 28.

American Hip Institute Research Foundation, Des Plaines, IL 60018; American Hip Institute, Des Plaines, IL 60018. Electronic address:

Purpose: To report on minimum 2-year outcomes for patients undergoing arthroscopic ligamentum teres reconstruction (LTR).

Methods: The institutional registry was retrospectively reviewed for all patients undergoing LTR between December 2012 and February 2016. LTR was indicated for fully torn or dysfunctional ligamentum teres (LT) with symptomatic multi-directional instability, not treatable by osteotomy nor capsular plication alone. Read More

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http://dx.doi.org/10.1016/j.arthro.2020.04.028DOI Listing

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.

Fetal Pediatr Pathol 2020 Apr 27:1-6. Epub 2020 Apr 27.

Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of British Columbia, and University of British Columbia, Vancouver, British Columbia, Canada.

Arthrochalasia type Ehlers-Danlos Syndrome (EDS) is a connective tissue disease characterized by severe generalized joint hypermobility, congenital bilateral hip dislocations, and recurrent joint subluxations and dislocations. Only one study has reported bone fragility resulting in fractures. The genetic abnormality underlying this disorder is a variant in the gene causing entire or partial loss of exon 6, resulting in defective type 1 collagen synthesis. Read More

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http://dx.doi.org/10.1080/15513815.2020.1753269DOI Listing

A Letter on "The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review".

Authors:
Katie Wright

Adv J Emerg Med 2020 10;4(2):e17. Epub 2019 Dec 10.

Director, VEDS (Vascular Ehlers-Danlos Syndrome) Division, The Marfan Foundation, NY, USA.

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http://dx.doi.org/10.22114/ajem.v0i0.316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7163269PMC
December 2019

Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehlers-Danlos syndrome.

Clin Res Cardiol 2020 Apr 21. Epub 2020 Apr 21.

Department of Interventional Radiology, Guangzhou First People's Hospital, the Second Affiliated Hospital of South China University of Technology, No.1 Panfu Road, Guangzhou, 510180, Guangdong, People's Republic of China.

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http://dx.doi.org/10.1007/s00392-020-01646-5DOI Listing

Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome.

Dig Dis Sci 2020 Apr 18. Epub 2020 Apr 18.

Division of Gastroenterology and Hepatology, Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER), Mayo Clinic, 200 First St. S.W., Charlton Bldg., Rm. 8-110, Rochester, MN, 55905, USA.

Objectives: Loeys-Dietz syndrome (LDS) and vascular Ehlers-Danlos Syndrome (vEDS) are genetically heterogeneous heritable disorders of connective tissue. Both are multi-system disorders with dominant vascular pathology and associated gastrointestinal manifestations.

Aim: To summarize the abdominal manifestations found in these two disorders in a cohort of patients seen at Mayo Clinic during a period of 25 years. Read More

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http://dx.doi.org/10.1007/s10620-020-06265-8DOI Listing

Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome.

Sci Rep 2020 Apr 16;10(1):6569. Epub 2020 Apr 16.

Department of Biosignaling and Radioisotope Experiment, Interdisciplinary Center for Science Research, Organization for Research and Academic Information, Shimane University, Izumo, 693-8501, Japan.

Tenascin-X (TNX) is a member of the extracellular matrix glycoprotein tenascin family, and TNX deficiency leads to Ehlers-Danlos syndrome, a heritable human disorder characterized mostly by skin hyperextensibility, joint hypermobility, and easy bruising. TNX-deficient patients complain of chronic joint pain, myalgia, paresthesia, and axonal polyneuropathy. However, the molecular mechanisms by which TNX deficiency complicates pain are unknown. Read More

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http://dx.doi.org/10.1038/s41598-020-63499-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162960PMC

The Connective Tissue Disorder Associated with Recessive Variants in the Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.

Genes (Basel) 2020 Apr 14;11(4). Epub 2020 Apr 14.

Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.

Recessive loss-of-function variants in a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called "Ehlers-Danlos syndrome, spondylodysplastic form type 3" (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. Read More

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http://dx.doi.org/10.3390/genes11040420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231014PMC

Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study.

Arthritis Care Res (Hoboken) 2020 Apr 15. Epub 2020 Apr 15.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Objective: Reduced maximal muscle strength and strength endurance has been found in patients with hypermobile Ehlers-Danlos syndrome/Hypermobility Spectrum Disorder (hEDS/HSD) and is recognized as a common associated feature of the disorder. However, it is currently not documented to which extent these parameters change over time. Therefore, an 8-year follow-up study was performed to investigate this evolution. Read More

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http://dx.doi.org/10.1002/acr.24220DOI Listing

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab 2020 Jul;105(7)

NHC key laboratory of Endocrinology, Peking Union Medical College Hospital; Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Purpose: Defects in both CYP21A2 and TNXB genes can cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers-Danlos syndrome (EDS), which has recently been named CAH-X syndrome. The purpose of this study is to assess the prevalence of the chimeric TNXA/TNXB gene and clinical symptoms in a Chinese cohort with 21-hydroxylase deficiency (21-OHD).

Methods: A total of 424 patients with 21-OHD who were genetically diagnosed were recruited for this study. Read More

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http://dx.doi.org/10.1210/clinem/dgaa199DOI Listing
July 2020
6.209 Impact Factor

Zinc and Its Transporters in Epigenetics.

Mol Cells 2020 Apr;43(4):323-330

Department of Biological Sciences, Ajou University, Suwon 16499, Korea.

Epigenetic events like DNA methylation and histone modification can alter heritable phenotypes. Zinc is required for the activity of various epigenetic enzymes, such as DNA methyltransferases (DNMTs), histone acetyltransferases (HATs), histone deacetylases (HDACs), and histone demethylases, which possess several zinc binding sites. Thus, the dysregulation of zinc homeostasis can lead to epigenetic alterations. Read More

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http://dx.doi.org/10.14348/molcells.2020.0026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191051PMC

Symptomatic joint hypermobility.

Authors:
Brad T Tinkle

Best Pract Res Clin Rheumatol 2020 Apr 2:101508. Epub 2020 Apr 2.

Division of Medical Genetics, Peyton Manning Children's Hospital, 8402 Harcourt Rd, Suite 300, Indianapolis, IN 46260, USA. Electronic address:

Joint hypermobility is relatively common and has many influences such as age, gender, training, and ethnicity among many. Joint hypermobility may be asymptomatic or symptomatic. It may also be non-syndromic or syndromic. Read More

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http://dx.doi.org/10.1016/j.berh.2020.101508DOI Listing

Inherited cause of in utero digital malformations.

BMJ Case Rep 2020 Mar 24;13(3). Epub 2020 Mar 24.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA

Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos syndrome, vascular type (vEDS). This is the third reported instance of ABS associated with paternally inherited vEDS in the medical literature. Read More

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http://dx.doi.org/10.1136/bcr-2019-232020DOI Listing

Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications.

Clin Neurol Neurosurg 2020 Jun 3;193:105775. Epub 2020 Mar 3.

Department of Neurosurgery, Royal Hallamshire Hospital, Glossop Road, Sheffield, S10 2JF, United Kingdom.

Vascular Ehlers-Danlos (vEDS) is a rare form of the Ehlers-Danlos Syndrome (EDS) where arterial fragility results from mutations in the gene that encodes type III collagen. The disease can lead to major neurological complications including carotico-cavernous fistulae (CCF), aneurysms of the Circle of Willis and endovascular procedures have an increased risk profile due to the delicate vasculature. Management of intracranial disease in vEDS requires an intricate understanding of the syndrome but is still associated with significant complications that lead to morbidity and mortality. Read More

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http://dx.doi.org/10.1016/j.clineuro.2020.105775DOI Listing
June 2020
1.248 Impact Factor

Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome.

Ann Plast Surg 2020 Mar 13. Epub 2020 Mar 13.

From the NewYork-Presbyterian Hospital/Weill Cornell Medical Center, New York, NY.

Introduction: The benefits of decompression and fusion for patients with craniocervical instability are well described. However, complications such as wound breakdown and need for unplanned reoperation frequently occur. Recent studies have shown advantages of myofascial flap closure for various spinal procedures. Read More

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http://dx.doi.org/10.1097/SAP.0000000000002341DOI Listing

Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control.

Pain Med 2020 Mar 16. Epub 2020 Mar 16.

Department of Human Neuroscience, Sapienza University, Rome, Italy.

Objectives: Although pain is a common complication of the hypermobile type of Ehlers-Danlos syndrome, its underlying mechanisms are still an issue of controversy. In this psychophysical study, we aimed at testing small-fiber function and the endogenous pain inhibitory control in patients with pain due to Ehlers-Danlos syndrome.

Methods: In 22 patients with pain due to Ehlers-Danlos syndrome and 22 healthy participants, matched for age and sex, we tested small-fiber function using quantitative sensory testing and the endogenous pain inhibitory control using the conditioned pain modulation (CPM) protocol. Read More

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http://dx.doi.org/10.1093/pm/pnaa038DOI Listing

A review of Ehlers-Danlos syndrome.

JAAPA 2020 Apr;33(4):23-28

At the time this article was written, Erin Miller was a student in the PA program at Marietta (Ohio) College. She now practices urgent care and occupational health with McLaren Health in Flint, Mich. John M. Grosel is a radiologist at Riverside Radiology and Interventional Associates, Inc., based in Columbus, Ohio, and a McCoy associate professor in the PA program at Marietta College. The authors have disclosed no potential conflicts of interest, financial or otherwise.

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. Read More

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http://dx.doi.org/10.1097/01.JAA.0000657160.48246.91DOI Listing

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.

J Korean Med Sci 2020 Mar 16;35(10):e96. Epub 2020 Mar 16.

Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene . We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c. Read More

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http://dx.doi.org/10.3346/jkms.2020.35.e96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073314PMC

Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome.

J Cutan Pathol 2020 Mar 14. Epub 2020 Mar 14.

Department of Dermatology, Hospital Universitario El Bierzo, Ponferrada, Spain.

Classic Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by laxity. The skin, as one of the organs involved, shows hyperextensibility, which makes it prone to trauma. In this context, it would seem logical for cutaneous synovial metaplasia, which is considered a form of repair, to be commonly found in cases of EDS. Read More

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http://dx.doi.org/10.1111/cup.13684DOI Listing

Bone Disease in Patients with Ehlers-Danlos Syndromes.

Curr Osteoporos Rep 2020 Apr;18(2):95-102

Shriners Hospital for Children, 1003 Boulevard Decarie, Montreal, Québec, Canada.

Purpose Of Review: To summarize the bone findings, mainly bone mass and fracture risk, in Ehlers-Danlos syndromes (EDS).

Recent Findings: Low bone mineral density and fractures seem to be frequent in some of the rare EDS types (kyphoscoliotic, arthrochalasia, spondylodysplastic, and classic-like EDS). For the more prevalent hypermobile and classic EDS types, some case-control studies found mildly decreased bone mineral density, but it was not clear that fracture rates were increased. Read More

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http://dx.doi.org/10.1007/s11914-020-00568-5DOI Listing

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).

JBMR Plus 2020 Mar 22;4(3):e10335. Epub 2020 Jan 22.

Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.

Worldwide, one in five men aged over 50 years will experience osteoporosis or a clinical bone fracture, with a greater fracture-related mortality rate than women. However, the genetic etiology of osteoporosis in men is still poorly understood. We aimed to identify the genetic variants and candidate genes associated with extremely low or high BMD for a better understanding of the biology underlying low bone density that may point to potential therapeutic targets for increasing bone mass. Read More

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http://dx.doi.org/10.1002/jbm4.10335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059823PMC

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Acta Derm Venereol 2020 Mar 25;100(7):adv00092. Epub 2020 Mar 25.

Department of Operative and Restorative Dentistry, Medical University Innsbruck, Innsbruck, Austria.

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. Read More

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http://dx.doi.org/10.2340/00015555-3428DOI Listing

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Mol Genet Genomic Med 2020 May 4;8(5):e1197. Epub 2020 Mar 4.

Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

Background: Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Forty-one patients with mcEDS-CHST14 and three patients with mcEDS-DSE have been described in the literature.

Methods: Clinical, molecular, and glycobiological findings in three additional patients with mcEDS-DSE were investigated. Read More

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http://dx.doi.org/10.1002/mgg3.1197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216804PMC

An old drug for a rare disease: The example of celiprolol for vascular Ehlers-Danlos syndrome.

Therapie 2020 Apr 13;75(2):175-181. Epub 2020 Feb 13.

Service de pharmacologie, INSERM U970, hôpital européen Georges-Pompidou, université de Paris, Assitance publique-Hôpitaux de Paris, 20, rue Leblanc, 75015 Paris, France. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.therap.2020.02.009DOI Listing

Posterior Shoulder Instability: Surgical Outcomes and Risk of Failure in Adolescence.

Am J Sports Med 2020 Apr 3;48(5):1200-1206. Epub 2020 Mar 3.

University of California, San Diego, San Diego, California, USA.

Background: Arthroscopic capsulolabral reconstruction has proven to be effective in treating posterior shoulder instability. Few studies have examined the risk factors that may contribute to poor outcomes in the adolescent population.

Purpose: To identify risk factors for surgical failure by comparing anatomic and subjective variations in children who underwent surgical intervention for posterior shoulder instability. Read More

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http://dx.doi.org/10.1177/0363546520907156DOI Listing

Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model.

J Vasc Surg 2020 Feb 27. Epub 2020 Feb 27.

Department of Surgery, Division of Vascular Surgery, University of Washington School of Medicine, Seattle, Wash. Electronic address:

Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare, syndromic, heritable condition with life-threatening complications that include aortic and arterial aneurysms, dissection, and rupture. This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement.

Methods: The vEDS Research Collaborative was established with an engagement award from the Patient-Centered Outcomes Research Institute to create a framework for a patient-researcher partnership. Read More

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http://dx.doi.org/10.1016/j.jvs.2019.12.043DOI Listing
February 2020

Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome.

Clin Gastroenterol Hepatol 2020 Feb 25. Epub 2020 Feb 25.

Academic Department of Gastroenterology, Sheffield Teaching Hospitals, Sheffield, United Kingdom; Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom. Electronic address:

Background & Aims: 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. Read More

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http://dx.doi.org/10.1016/j.cgh.2020.02.034DOI Listing
February 2020

Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study.

Int J Environ Res Public Health 2020 02 20;17(4). Epub 2020 Feb 20.

Department of Podiatry, University of Seville, 41009 Seville, Spain.

Background: Pain and fatigue are major clinical manifestations in patients with Ehlers-Danlos Syndrome (EDS). The aim of this study is to measure change of the effects of custom-made foot orthotics on some manifestations related to EDS, such as foot pain, foot functionality, fatigue, and quality of life.

Methods: Thirty-six patients with EDS wore foot orthoses for three months. Read More

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http://dx.doi.org/10.3390/ijerph17041359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068607PMC
February 2020

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

Am J Med Genet A 2020 May 24;182(5):994-1007. Epub 2020 Feb 24.

Ehlers-Danlos Syndrome National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK.

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients. Read More

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http://dx.doi.org/10.1002/ajmg.a.61523DOI Listing

Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome.

Case Rep Orthop 2020 1;2020:8507929. Epub 2020 Feb 1.

Department of Rehabilitation, Japanese Red Cross Kanazawa Hospital, Kanazawa, Japan.

Patients with Ehlers-Danlos syndrome (EDS) present many musculoskeletal disorders. The purpose of this case report was to describe the effectiveness of a scapular motor control program for a patient with multidirectional severe shoulder instability due to EDS, with 6-month follow-up. The patient was a 14-year-old female with EDS hypermobile type who suffered recurrent shoulder dislocation. Read More

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http://dx.doi.org/10.1155/2020/8507929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021465PMC
February 2020

RD repair using 360-degree scleral graft for extensive scleral ectasia in a patient with Ehlers Danlos syndrome.

Am J Ophthalmol Case Rep 2020 Mar 13;17:100554. Epub 2019 Sep 13.

Department of Ophthalmology, Cork University Hospital, Cork, Ireland.

Purpose: To report a case of a woman who had Ehlers Danlos syndrome who developed a bullous retinal detachment.

Observations: A 33-year-old Caucasian woman presented with 1-day history of floaters and photopsia. Patient had extensive scleral ectasia. Read More

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http://dx.doi.org/10.1016/j.ajoc.2019.100554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019116PMC