3,780 results match your criteria Ehlers-Danlos Syndrome


Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Circ Genom Precis Med 2019 Feb 20. Epub 2019 Feb 20.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares & INSERM, U970, Paris centre de Recherche Cardiovasculaire-PARCC, Paris, France.

Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vEDS is challenging and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated.

Methods: All patients seen at a dedicated tertiary referral centre for a suspicion of vEDS between January 2001 and March 2016 were retrospectively included in a diagnostic accuracy study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.117.001996DOI Listing
February 2019

Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

Rheumatology (Oxford) 2019 Feb 19. Epub 2019 Feb 19.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Objectives: This study is aimed at identifying discrete severity classes among adults with hypermobile Ehlers-Danlos syndrome (hEDS)/hypermobility spectrum disorders (HSD).

Methods: Subjects were selected according to the old and new nomenclatures and all completed a set of questionnaires exploring pain, fatigue, dysautonomic symptoms, coordination and attention/concentration deficits and quality of life in general. Data were investigated by hierarchical clustering on principal components. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/kez029DOI Listing
February 2019

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 Feb 12;10(2). Epub 2019 Feb 12.

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

Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modifying or processing proteins. Recently, a new EDS subtype, i. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10020135DOI Listing
February 2019
1 Read

Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis.

J Clin Sleep Med 2019 Feb 4. Epub 2019 Feb 4.

Study Objectives: Because of associated abnormalities affecting connective tissue in various organs including airways, hypermobility syndrome has been associated with high risk for the development sleep apnea. Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) represent the most common hypermobility syndromes; therefore, the purpose of this review was to examine the prevalence of obstructive sleep apnea (OSA) in these populations.

Methods: All publications and poster presentations written in English found through August 2018 that describe the prevalence of sleep apnea among people with EDS or MFS were included. Read More

View Article

Download full-text PDF

Source
February 2019
1 Read

Microneedling on the external female genitalia's flaccidity in patients with Ehlers-Danlos: Case report.

J Cosmet Dermatol 2019 Feb 7. Epub 2019 Feb 7.

Bahiana School of Medicine and Public Health, Salvador, Brazil.

Introduction: The Ehlers-Danlos Syndrome (EDS) can presentis a reduction in fibroblast proliferation and collagen production. Microneedling a minimally invasive technique that through mechanical stimulus there is incentive to the production of collagen and elastin.

Objective: Present a case study in a patient with EDS complaining of flaccidity on large genital labia, using microneedling as a therapeutic proposal. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jocd.12867DOI Listing
February 2019

SiMPLOD, a structure-integrated database of collagen lysyl hydroxylase (LH/PLOD) enzyme variants.

J Bone Miner Res 2019 Feb 5. Epub 2019 Feb 5.

The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, Via Ferrata 9/A, 27100 Pavia (Italy).

PLOD genes encode for procollagen lysyl hydroxylase enzymes (LH/PLOD), a family of proteins essential for collagen biosynthesis. Several mutations affect these genes causing severe disorders, such as Ehlers-Danlos and Bruck syndrome, as well a connective tissue disease with phenotype resembling osteogenesis imperfecta caused by lack of LH3 functions. The recently determined three-dimensional structures of the full-length human LH3/PLOD3 isoform, together with the structure of a fragment of a viral LH/PLOD homolog, are now allowing molecular mapping of the numerous disease-causing mutations, providing insights often suitable for the interpretation of the resulting disease phenotypes. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/jbmr.3692
Publisher Site
http://dx.doi.org/10.1002/jbmr.3692DOI Listing
February 2019
2 Reads

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS One 2019 4;14(2):e0211647. Epub 2019 Feb 4.

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

Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. cEDS patients suffer from skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. Most of the causative variants result in a non-functional COL5A1 allele and COLLV haploinsufficiency, whilst COL5A2 mutations affect its structural integrity. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211647PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361458PMC
February 2019
2 Reads

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

Am J Med Genet A 2019 Feb 1. Epub 2019 Feb 1.

National Institute on Aging Intramural Research Program, National Institutes of Health, Baltimore, Maryland.

We describe a data repository on heritable disorders of connective tissue (HDCT) assembled by the National Institutes of Health's National Institute on Aging (NIA) Intramural Research Program between 2001 and 2013. Participants included affected persons with a wide range of heritable connective tissue phenotypes, and unaffected family members. Elements include comprehensive history and physical examination, standardized laboratory data, physiologic measures and imaging, standardized patient-reported outcome measures, and an extensive linked biorepository. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61054DOI Listing
February 2019
1 Read

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

Am J Med Genet A 2019 Jan 31. Epub 2019 Jan 31.

Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality of life in children and adolescents with hEDS. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.61055
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61055DOI Listing
January 2019
6 Reads

A case of broken bones and systems: The threat of irresponsible testimony.

Authors:
Natasha Shur

Am J Med Genet A 2019 Mar 29;179(3):429-434. Epub 2019 Jan 29.

Division of Genetics, Children's National Medical Center, Washington, District of Columbia.

A 2-month-old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work-up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.61043
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.61043DOI Listing
March 2019
3 Reads

The Genetics of Pneumothorax.

Am J Respir Crit Care Med 2019 Jan 25. Epub 2019 Jan 25.

Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States ;

A genetic influence on spontaneous pneumothoraces - those occurring without a traumatic or iatrogenic cause - is supported by several lines of evidence: 1) Pneumothorax can cluster in families (i.e. familial spontaneous pneumothorax); 2) Mutations in the FLCN gene have been found in both familial and sporadic cases; and 3) Pneumothorax is a known complication of several genetic syndromes. Read More

View Article

Download full-text PDF

Source
https://www.atsjournals.org/doi/10.1164/rccm.201807-1212CI
Publisher Site
http://dx.doi.org/10.1164/rccm.201807-1212CIDOI Listing
January 2019
13 Reads

RETRACTED: Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events.

Dermatol Online J 2018 Sep 15;24(9). Epub 2018 Sep 15.

Department of Clinical Sciences and Community Health, University of Milan, IRCCS Ca' Granda Foundation Via San Barnaba, Milan; Genetics Laboratory, IRCCS Ca' Granda Foundation, via Francesco Sforza 35, Milan.

The article entitled "Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events" has been retracted because the description and characterization of the disease in a family may have been previously published. Read More

View Article

Download full-text PDF

Source
September 2018

Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study.

J Clin Gastroenterol 2019 Jan 21. Epub 2019 Jan 21.

Department of Medicine, Division of Gastroenterology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston.

Background And Aims: Prior studies have shown a high prevalence of gastrointestinal (GI) symptoms, diagnoses of functional GI diseases (FGIDs), and pelvic floor symptoms associated with Ehlers-Danlos syndrome (EDS). It is unclear if Marfan syndrome (MFS), another common hereditary noninflammatory connective tissue disorder, is also associated these symptoms. This study evaluates the prevalence of and compares FGIDs and pelvic floor symptoms in a national cohort of EDS and MFS patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCG.0000000000001173DOI Listing
January 2019

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

Hum Mol Genet 2019 Jan 22. Epub 2019 Jan 22.

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium.

The Ehlers-Danlos syndromes (EDS) are a clinically and molecularly diverse group of heritable connective tissue disorders caused by defects in a wide range of genes. Recently, biallelic loss-of-function mutations in the AEBP1 gene were reported in three families with an autosomal recessive EDS-like condition characterized by thin and hyperextensible skin, poor wound healing with prominent atrophic scarring, joint hypermobility and osteoporosis. Using whole exome sequencing, we identified novel bi-allelic AEBP1 variants in two unrelated adult patients, previously diagnosed with an undefined EDS type which shows important clinical resemblance to several other EDS subtypes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddz024DOI Listing
January 2019

Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome.

Dig Dis Sci 2019 Jan 17. Epub 2019 Jan 17.

Division of Colorectal Surgery, Department of General Surgery, Stanford University School of Medicine, 300 Pasteur Drive Rm H3691, Stanford, CA, 94305, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10620-019-5467-3DOI Listing
January 2019
1 Read

Tetrad presentation of non-syndromic odontogenic keratocyst: An uphill diagnostic and therapeutic challenge.

Dent Med Probl 2018 Oct-Dec;55(4):447-451

Department of Oral Pathology and Microbiology, the A.B. Shetty Memorial Institute of Dental Sciences, NITTE (Deemed to be University), Deralakatte, India.

Odontogenic keratocyst (OKC), in the last decade sceptically referred to as keratocystic odontogenic tumor (KCOT), is known for its subclinical extensive growth potential and significant rate of recurrences. Odontogenic keratocyst, being the third most common cystic lesion (10-20%) of the maxillofacial region, is often recognized as a sporadic lesion and is well-documented in the literature. Multiple presentation of these cysts over a lifetime is relatively uncommon and is usually seen in conjunction with nevoid basal cell carcinoma syndrome (NBCC), orofacial digital syndrome, Noonan syndrome, Ehlers-Danlos syndrome, Simpson-Golabi-Behmel syndrome, or other syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17219/dmp/96272DOI Listing
January 2019

Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Clin Genet 2019 Jan 15. Epub 2019 Jan 15.

Department of Visceral Surgery, Lausanne University Hospital, Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cge.13497
Publisher Site
http://dx.doi.org/10.1111/cge.13497DOI Listing
January 2019
4 Reads

Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome.

Vasc Endovascular Surg 2019 Jan 10:1538574418824185. Epub 2019 Jan 10.

4 Division of Vascular Surgery, Mayo Clinic Arizona, Phoenix, AZ, USA.

Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders involving the connective tissues. Type IV EDS impairs type III collagen that is responsible for vessel integrity. Patients with type IV EDS are susceptible to vascular and visceral complications, including aortic aneurysms, pseudoaneurysms, dissections, and spontaneous rupture of internal organs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1538574418824185DOI Listing
January 2019
2 Reads

Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization.

Neurosurg Rev 2019 Jan 9. Epub 2019 Jan 9.

Medical University of South Carolina, Charleston, SC, USA.

A great deal of literature has drawn attention to the "complex Chiari," wherein the presence of instability or ventral brainstem compression prompts consideration for addressing both concerns at the time of surgery. This report addresses the clinical and radiological features and surgical outcomes in a consecutive series of subjects with hereditary connective tissue disorders (HCTD) and Chiari malformation. In 2011 and 2012, 22 consecutive patients with cervical medullary syndrome and geneticist-confirmed hereditary connective tissue disorder (HCTD), with Chiari malformation (type 1 or 0) and kyphotic clivo-axial angle (CXA) enrolled in the IRB-approved study (IRB# 10-036-06: GBMC). Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10143-018-01070-4
Publisher Site
http://dx.doi.org/10.1007/s10143-018-01070-4DOI Listing
January 2019
15 Reads

Ehlers-Danlos syndrome with infective endocarditis: A case report with literature review.

IDCases 2019 29;15:e00484. Epub 2018 Dec 29.

Department of Pulmonary and Critical Care Medicine, University of Tennessee Graduate School of Medicine, Knoxville, USA.

We report a patient with Ehlers-Danlos syndrome and mitral valve infective endocarditis. The case was complicated due to multiorgan involvement and initially diagnosed as hand-foot-and-mouth disease. The patient was transferred to our hospital with cerebral septic emboli and bilateral lower extremity emboli requiring early surgery. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22142509183022
Publisher Site
http://dx.doi.org/10.1016/j.idcr.2018.e00484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322054PMC
December 2018
9 Reads

Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report.

Am J Case Rep 2019 Jan 10;20:39-42. Epub 2019 Jan 10.

Department of Anesthesiology and Perioperative Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, PA, USA.

BACKGROUND Ehlers-Danlos syndrome, hypermobility type is characterized by increased extensibility, permeability, and fragility of the affected cartilaginous tissues, including the trachea, larynx, and skin. Anesthetic considerations for patients with this syndrome include intubation difficulties secondary to the collapse of fibro-elastic tissues in the trachea and a reported resistance to local anesthetics. CASE REPORT Our patient was a 22-year-old G4P0030 woman with a history of morbid obesity, seizures, Barrett's esophagus, hypermobility being evaluated for Ehlers-Danlos syndrome, and anaphylaxis to an unknown local anesthetic who was scheduled for cesarean delivery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12659/AJCR.912799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335977PMC
January 2019
2 Reads

Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study.

Am J Med Genet A 2019 Mar 9;179(3):397-403. Epub 2019 Jan 9.

Ehlers-Danlos Society Center for Clinical Care and Research, Greater Baltimore Medical Center, Baltimore, Maryland.

Against the backdrop of increased opioid prescribing in the United States and the associated high rate of side effects, dependence, and addiction, our study examined how opioids and other medications are being used among persons with Ehlers-Danlos syndrome (EDS). EDS is a set of heritable connective tissue disorders with high symptom burden, including chronic pain. Prescription medication use among persons with EDS was compared to a cohort of matched controls using 10 years of administrative claims data from a large database of privately insured patients (2005-2014). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61031DOI Listing
March 2019
1 Read

Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome.

Blood Press 2019 Jan 9:1-5. Epub 2019 Jan 9.

a Division of Cardiology , Cliniques Universitaires Saint-Luc, Université Catholique de Louvain , Brussels , Belgium.

We report the case of a 42-year-old patient referred for suspicion of fibromuscular dysplasia in the context of a carotid artery dissection occurring after a minor trauma. Initial complaints included left hemicrania, lateral diplopia with left 6 cranial nerve palsy and pulsatile tinnitus. The work-up disclosed a large left carotid-cavernous fistula, as well as more proximal carotid lesions compatible with multifocal fibromuscular dysplasia. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/08037051.2018.1
Publisher Site
http://dx.doi.org/10.1080/08037051.2018.1557507DOI Listing
January 2019
7 Reads

Late conversion after endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome.

J Vasc Surg Cases Innov Tech 2019 Mar 31;5(1):1-3. Epub 2018 Dec 31.

Department of Vascular Surgery, St. Franziskus Hospital, Münster, Germany.

Vascular Ehlers-Danlos syndrome is associated with life-threatening events. The management of the disease is challenging because of the emergency presentation of symptoms and the tissue friability of the aorta. We describe the successful treatment of a late type I endoleak after previous EVAR. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvscit.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313834PMC
March 2019
1 Read

Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice.

Cell Tissue Res 2019 Jan 4. Epub 2019 Jan 4.

Laboratory of Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido, 069-8501, Japan.

Ehlers-Danlos syndrome (EDS) is a collection of inheritable diseases involving the musculoskeletal, integumentary and visual systems. Spondylodysplastic EDS-ZIP13 (spEDS-ZIP13: OMIM 612350) was recently defined as a new form of EDS. Although vasculitis has been found in many spEDS-ZIP13 patients, vascular pathology has not been included as a pathognomonic lesion of this type of EDS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00441-018-2977-9DOI Listing
January 2019

Chiari Malformations.

Acta Neurochir Suppl 2019 ;125:89-95

Department of Neurology and Psychiatry, Division of Neurosurgery, "Sapienza" University of Rome, Rome, Italy.

Background: Chiari malformations (CM) represent a group of anomalies characterized by descent of the cerebellar tonsils or vermis into the cervical spinal canal. These malformations can be associated with abnormalities such as hydrocephalus, spina bifida, hydromyelia, syringomyelia, curvature of the spine (kyphosis and scoliosis) and tethered cord syndrome. Hereditary syndromes and other disorders that affect growth and bone formation-such as craniosynostosis, Ehlers-Danlos syndromes and Klippel-Feil syndrome-can also be associated with CM. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/978-3-319-62515-7_13
Publisher Site
http://dx.doi.org/10.1007/978-3-319-62515-7_13DOI Listing
January 2019
9 Reads

A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function.

J Physiol 2019 Jan 3. Epub 2019 Jan 3.

Blizard Institute, Queen Mary University of London, London, UK.

Key Points: Tenascin X (TNX) functions in the extracellular matrix of skin and joints where it maintains correct intercellular connections and tissue architecture TNX is associated exclusively with vagal-afferent endings and some myenteric neurones in mouse and human stomach, respectively. TNX-deficient mice have accelerated gastric emptying and hypersensitivity of gastric vagal mechanoreceptors that can be normalized by an inhibitor of vagal-afferent sensitivity. Cultured nodose ganglion neurones showed no changes in response to capsaicin, cholecystokinin and potassium chloride in TNX-deficient mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1113/JP277195DOI Listing
January 2019
2 Reads
5.037 Impact Factor

Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome.

Br J Oral Maxillofac Surg 2019 Jan 28;57(1):76-78. Epub 2018 Dec 28.

Northwick park hospital, Watford Road, Harrow, Middlesex, HA1 3UJ.

We report the use of unilateral condylectomy to treat the recurrent dislocation of the temporomandibular joint (TMJ) in a 21-year-old woman with Ehlers-Danlos syndrome. Eighteen months after operation the patient had no further dislocation on full mouth opening, and no surgical complications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bjoms.2018.09.006DOI Listing
January 2019
2 Reads

Anterior tibial artery rupture treated using covered stent in a patient with vascular Ehlers-Danlos syndrome.

J Cardiol Cases 2018 Dec 24;18(6):197-200. Epub 2018 Aug 24.

Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Vascular Ehlers-Danlos syndrome (vEDS) is a rare degenerative connective tissue disease caused by a mutation of the gene that results in systemic vascular fragility. Arterial rupture is a potentially fatal serious complication that is the most commonly reported cause of death among patients with this disease, as ruptured vessels remain fragile even after surgical or endovascular reconstruction. Therefore, treatment for vascular complications in patients with vEDS remains controversial. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jccase.2018.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306516PMC
December 2018

Autism, Joint Hypermobility-Related Disorders and Pain.

Front Psychiatry 2018 7;9:656. Epub 2018 Dec 7.

Department of Child and Adolescent Psychiatry, Reference Center for Rare Psychiatric Diseases, APHP, Groupe Hospitalier Pitié-Salpêtrière, Université Sorbonne, Paris, France.

Autism Spectrum Disorder (ASD) and Joint Hypermobility-Related Disorders are blanket terms for two etiologically and clinically heterogeneous groups of pathologies that usually appears in childhood. These conditions are seen by different medical fields, such as psychiatry in the case of ASD, and musculoskeletal disciplines and genetics in the case of hypermobility-related disorders. Thus, a link between them is rarely established in clinical setting, despite a scarce but growing body of research suggesting that both conditions co-occur more often than expected by chance. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpsyt.2018.00656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292952PMC
December 2018

The link between idiopathic intracranial hypertension, fibromyalgia, and chronic fatigue syndrome: exploration of a shared pathophysiology.

J Pain Res 2018 10;11:3129-3140. Epub 2018 Dec 10.

Department of Rehabilitation Sciences, Faculty of Kinesiology and Rehabilitation Sciences, Musculoskeletal Rehabilitation Research Unit, University of Leuven, Leuven, Belgium,

Purpose: Idiopathic intracranial hypertension (IICH) is a condition characterized by raised intracranial pressure (ICP), and its diagnosis is established when the opening pressure measured during a lumbar puncture is elevated >20 cm HO in nonobese patients or >25 cm HO in obese patients. Papilledema is caused by forced filling of the optic nerve sheath with cerebrospinal fluid (CSF). Other common but underappreciated symptoms of IICH are neck pain, back pain, and radicular pain in the arms and legs resulting from associated increased spinal pressure and forced filling of the spinal nerves with CSF. Read More

View Article

Download full-text PDF

Source
https://www.dovepress.com/the-link-between-idiopathic-intrac
Publisher Site
http://dx.doi.org/10.2147/JPR.S186878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292399PMC
December 2018
9 Reads

Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial.

Am J Med Genet A 2019 Mar 20;179(3):356-364. Epub 2018 Dec 20.

Laboratory of Human Molecular Genetics (GEHU), de Duve Institute (DDUV), Université catholique de Louvain (UCLouvain), Belgium.

As exertional inspiratory dyspnea is a common disabling complaint in hypermobile Ehlers-Danlos syndrome (hEDS) often also known as joint hypermobility syndrome (JHS), we investigated inspiratory muscle (IM) strength in patients with hEDS, and we assessed the effects of IM training (IMT) on IM strength, lung function, and exercise capacity. A prospective evaluation of IM strength followed by a randomized controlled trial of IMT was performed in women with hEDS. Sniff nasal inspiratory pressure (SNIP) was used to routinely measure IM strength and IMT was carried out using a pressure threshold device. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61016DOI Listing
March 2019
2 Reads

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2019 Feb 18;179(2):317-321. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
February 2019
1 Read

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

Endocrine 2019 Feb 15;63(2):225-230. Epub 2018 Dec 15.

Vita-Salute San Raffaele University, Milano, Italy.

Ehlers-Danlos syndrome (EDS) is an emerging cause of skeletal fragility. Mechanism of bone damage are probably multifactorial in line with the different skeletal phenotypes that can be found in clinical practice. A structured approach to clinical management of bone metabolic complication in EDS is proposed. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12020-018-1822-y
Publisher Site
http://dx.doi.org/10.1007/s12020-018-1822-yDOI Listing
February 2019
4 Reads

Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.

Biochim Biophys Acta Gen Subj 2019 Mar 13;1863(3):623-631. Epub 2018 Dec 13.

Laboratory of Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido, Japan. Electronic address:

Musculocontractural Ehlers-Danlos syndrome (mcEDS) due to CHST14/D4ST1 deficiency (mcEDS-CHST14) is a recently delineated type of EDS caused by biallelic loss-of-function mutations in CHST14, which results in the depletion of dermatan sulfate (DS). Clinical characteristics of mcEDS-CHST14 consist of multiple malformations and progressive fragility-related manifestations, including skin hyperextensibility and fragility. Skin fragility is suspected to result from the impaired assembly of collagen fibrils caused by alteration of the glycosaminoglycan (GAG) chain of decorin-proteoglycan (PG) from DS to chondroitin sulfate (CS). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbagen.2018.12.006DOI Listing
March 2019
3 Reads

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2019 Jan 11;179(1):50-56. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). The four previously reported individuals show considerable clinical variability. Unbiased high-throughput sequencing enables the rapid identification of additional cases for such rare entities. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60679
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.60679DOI Listing
January 2019
7 Reads

Angioid Streaks Are Not a Common Feature of Ehlers Danlos Syndrome.

JAMA Ophthalmol 2018 Dec 13. Epub 2018 Dec 13.

Wilmer Eye Institute, Baltimore, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2018.5995DOI Listing
December 2018

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Neurogenetics 2018 Dec 8. Epub 2018 Dec 8.

Department of Child Neurology and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers-Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers-Danlos syndrome were included in the present study and underwent general physical, dental, and neurological examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10048-018-0560-x
Publisher Site
http://dx.doi.org/10.1007/s10048-018-0560-xDOI Listing
December 2018
14 Reads

[Suspected vascular ehlers danlos syndrome. Case report].

Rev Med Chil 2018 Aug;146(8):938-942

Departamento de Dermatología, Pontificia Universidad Católica de Chile, Santiago, Chile.

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4067/s0034-98872018000800938DOI Listing
August 2018
1 Read

[Maternal mortality among women with Marfan syndrome or vascular Ehlers-Danlos syndrome in France, 2001-2012].

Gynecol Obstet Fertil Senol 2019 01 27;47(1):30-35. Epub 2018 Nov 27.

Service de gynécologie-obstétrique, hôpital Armand-Trousseau, Assistance publique-Hôpitaux de Paris, 26, avenue du Dr Arnold-Netter, 75012 Paris, France; Inserm U1153, équipe EPOPé, épidémiologie obstétricale périnatale et pédiatrique, centre de recherche en statistiques et épidémiologie, université Paris Descartes, DHU risques et grossesse, 53, avenue de l'observatoire, 75014 Paris, France.

Objective: To describe maternal deaths in France associated with Marfan's syndrome or vascular Ehlers-Danlos syndrome.

Study Design: A retrospective descriptive study based on data from the national confidential enquiry into maternal deaths, in France, during 2001-2012. Characteristics of the patients, their pregnancies and details of their deaths were analysed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gofs.2018.11.003DOI Listing
January 2019

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome.

Respiration 2018 Nov 28:1-8. Epub 2018 Nov 28.

Department of Pulmonology, University Hospital Zurich, Zurich,

Background: In Ehlers-Danlos syndrome (EDS), a group of monogenic disorders affecting connective tissues, obstructive sleep apnoea (OSA) is highly prevalent in adults. The prevalence of OSA in children with EDS is unknown.

Objectives: This prospective cross-sectional study aimed at determining the prevalence of OSA in paediatric EDS patients. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/494328
Publisher Site
http://dx.doi.org/10.1159/000494328DOI Listing
November 2018
12 Reads

Outcomes of Primary Total Knee Arthroplasty in Patients With Ehlers-Danlos Syndromes.

J Arthroplasty 2019 Feb 27;34(2):315-318. Epub 2018 Sep 27.

Department of Orthopedic Surgery, Mayo Clinic, Jacksonville, FL.

Background: Ehlers-Danlos syndromes (EDS) are connective tissue disorders that cause defects in collagen synthesis or processing, resulting in joint hypermobility. Following total knee arthroplasty (TKA), concern exists that hypermobility will affect the outcome as prosthesis relies on soft tissues for stability. The purpose of this study is to investigate the outcome of TKA in the setting of EDS compared to patients undergoing TKA for osteoarthritis (OA). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.arth.2018.09.079DOI Listing
February 2019

Sudden onset of lower limb flaccid paralysis.

Arch Dis Child Educ Pract Ed 2018 Nov 26. Epub 2018 Nov 26.

Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

A previously well 15-year-old boy presented to the emergency department with sudden-onset severe back pain and inability to weight bear. Preceding this event, he stretched out in bed and felt a click in his back.On examination, he was alert and interactive with normal vital signs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2018-315903DOI Listing
November 2018
2 Reads

Conditions and Factors Associated With Spontaneous Coronary Artery Dissection (from a National Population-Based Cohort Study).

Am J Cardiol 2019 Jan 30;123(2):249-253. Epub 2018 Oct 30.

Brigham and Women's Hospital Heart & Vascular Center, Harvard Medical School, Boston, Massachusetts. Electronic address:

The pathophysiology of spontaneous coronary artery dissection (SCAD) is heterogeneous, associated with systemic arteriopathies and inflammatory diseases, and often compounded by environmental precipitants, genetics, or stressors. However, the frequency of these associated conditions with SCAD on a population level remains unknown. Therefore, the objective of this analysis was to evaluate heterogeneous phenotypes of SCAD in the United States using data from the Nationwide Inpatient Sample collected from January 1, 2004, to September 31, 2015. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjcard.2018.10.012DOI Listing
January 2019
9 Reads
3.280 Impact Factor

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Genet Med 2018 Nov 26. Epub 2018 Nov 26.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

Purpose: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental mosaicism, but its frequency is unknown. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0356-2
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0356-2DOI Listing
November 2018
7 Reads

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2019 Jan 23;180(1):25-34. Epub 2018 Nov 23.

Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

The 2017 nosology defines the new criteria for hypermobile Ehlers-Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ-9) is one of the few available tools. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32698DOI Listing
January 2019
8 Reads

Long-term treatment with linaclotide of intestinal pseudo-obstruction secondary to Ehlers-Danlos syndrome.

Dig Liver Dis 2019 Jan 28;51(1):177-178. Epub 2018 Oct 28.

Pathology Section, Department of Molecular and Translational Medicine, Spedali Civili and University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15908658183120
Publisher Site
http://dx.doi.org/10.1016/j.dld.2018.10.012DOI Listing
January 2019
9 Reads

Craniofacial abnormality with skeletal dysplasia in mice lacking chondroitin sulfate N-acetylgalactosaminyltransferase-1.

Sci Rep 2018 Nov 20;8(1):17134. Epub 2018 Nov 20.

Department of Medical Cell Biology, School of Medicine, Aichi Medical University, Nagakute, Aichi, 480-1195, Japan.

Chondroitin sulfate (CS) proteoglycan is a major component of the extracellular matrix and plays an important part in organogenesis. To elucidate the roles of CS for craniofacial development, we analyzed the craniofacial morphology in CS N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice. T1KO mice showed the impaired intramembranous ossification in the skull, and the final skull shape of adult mice included a shorter face, higher and broader calvaria. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-35412-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244165PMC
November 2018
10 Reads

Identification of a de novo case of -related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care.

Clin Case Rep 2018 Nov 15;6(11):2256-2261. Epub 2018 Oct 15.

Department of Biochemistry St. George's University St. George's Grenada.

A 1-year-old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers-Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state-of-the-art cardiac monitoring and appropriate symptomatic treatment for this rare disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230631PMC
November 2018
7 Reads

Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review.

J Foot Ankle Res 2018 7;11:59. Epub 2018 Nov 7.

1School of Health Sciences, Faculty of Health and Medicine, University of Newcastle, Central Coast Campus, Ourimbah, NSW 2258 Australia.

Background: Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome are two common heritable genetic disorders of connective tissue. Both conditions are characterised by excessive joint range of motion and the presence of musculoskeletal symptoms, and are associated with joint instability, motion incoordination, decreased joint position sense, and musculoskeletal pain. Hypermobility Spectrum Disorder is the new classification for what was previously known as Joint Hypermobility Syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13047-018-0302-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222981PMC
November 2018
11 Reads