Cervical Artery Dissections: Etiopathogenesis and Management by Keser Z, Chiang CC, Benson JC, Pezzini A, Lanzino G

“…Family history of CeAD, connective tissue disorders like Ehlers-Danlos syndrome type IV, and fibromuscular dysplasia are risk factors for recurrent CeAD, which can occur in 3– 9% of the cases. …”
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Homonymous Hemianopia Secondary to A Long Fusiform Aneurysm of Posterior Cerebral Artery in A Patient with Connective Tissue Disease by Pinto Desti Ramadhoni, Asep Riswandi

“…Dissection and atherosclerosis are the main causes of this vasculopathy, but connective tissue disease is a very uncommon cause. Ehlers-Danlos Syndrome is the most common connective tissue disease, accounting for  11% of all cases. …”
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A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility by Emily L. Casanova, Julia L. Sharp, Stephen M. Edelson, Desmond P. Kelly, Manuel F. Casanova

“…Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. …”
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A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly by Thunyaporn Budsamongkol, Narin Intarak, Thanakorn Theerapanon, Somchai Yodsanga, Thantrira Porntaveetus, Vorasuk Shotelersuk

“…Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. …”
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A Dual Approach for the Management of Complex Craniovertebral Junction Abnormalities: Endoscopic Endonasal Odontoidectomy and Posterior Decompression with Fusion by Andrew F. Alalade, Elizabeth Ogando-Rivas, Jonathan Forbes, Malte Ottenhausen, Rafael Uribe-Cardenas, Ibrahim Hussain, Prakash Nair, Kurt Lehner, Harminder Singh, Ashutosh Kacker, Vijay K. Anand, Roger Hartl, Ali Baaj, Theodore H. Schwartz, Jeffrey P. Greenfield

“…One patient had Ehlers-Danlos syndrome, 1 patient had a Chiari 1 malformation, and the remaining 5 patients had Chiari 1.5 malformations. …”
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A complex microdeletion 17q12 phenotype in a patient with recurrent <it>de novo</it> membranous nephropathy by Hinkes Bernward, Hilgers Karl F, Bolz Hanno J, Goppelt-Struebe Margarete, Amann Kerstin, Nagl Sandra, Bergmann Carsten, Rascher Wolfgang, Eckardt Kai-Uwe, Jacobi Johannes

“…Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the <it>COL3A1</it> gene was underlying. …”
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A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. by Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx, Anne De Paepe

“…<h4>Background</h4>The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. …”
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Recommendations From the Twitter Hashtag #DoctorsAreDickheads: Qualitative Analysis by Sharma, Anjana Estelle, Mann, Ziva, Cherian, Roy, Del Rosario, Jan Bing, Yang, Janine, Sarkar, Urmimala

“…The most commonly mentioned clinical conditions were chronic pain, mental health, and musculoskeletal conditions (mainly Ehlers-Danlos syndrome). We identified 3 major themes: disbelief in patients’ experience and knowledge that contributes to medical errors and harm, the power inequity between patients and providers, and metacommentary on the meaning and impact of the #DoctorsAreDickheads hashtag. …”
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Manejo odontológico de pacientes con el síndrome de Ehlers-Danlos. Revisión narrativa by Javiera Cancino González, Sergio Gutiérrez, Diego Fonseca Escobar

“…En esta revisión se emplearon resultados extraídos manualmente de artículos, indexados en las bases de datos PUBMED y EBSCO, que respondían a la búsqueda de los términos Ehlers-Danlos syndrome, dental management y oral surgery. …”

Validation of an Electronic Visual Analog Scale App for Pain Evaluation in Children and Adolescents With Symptomatic Hypermobility: Cross-sectional Study by Muhammad Maarj, Verity Pacey, Louise Tofts, Matthew Clapham, Xavier Gironès Garcia, Andrea Coda

“…ObjectiveThis study aimed to assess the validity and reliability of an electronic visual analogue scale (e-VAS) method via a mobile health (mHealth) App in children and adolescents diagnosed with hypermobility spectrum disorder/hypermobile Ehlers-Danlos syndrome (HSD/HEDS) in comparison with the traditional p-VAS. …”
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CLINICAL AND GENETIC ASPECTS OF ABNORMAL TORTUOSITY OF PRECEREBRAL ARTERIES IN ISCHEMIC STROKE by N. M. Poplavskaya, O. P. Sidorova, S. V. Kotov

“…The screening performed in 25 of such patients showed connective tissue disorders in one third of them (in 2 patients, Ehlers-Danlos syndrome, in 2 patients, connective tissue dysplasia, in 4 patients, mild symptoms of abnormal connective tissue, such as excessive joint mobility scoring to 1–2). …”
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First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects by Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis

“…A definitive or highly-likely diagnosis was made in 6 of 14 cases (43%), of which 3 were abortuses (Ellis-van Creveld syndrome, Ehlers-Danlos syndrome and Nemaline myopathy 2) and 3 involved on-going pregnancies (Citrullinemia, Noonan syndrome, PROKR2-related Kallmann syndrome). …”
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Remitting long-standing major depression in a multiple sclerosis patient with several concurrent conditions by Sachinvala ND, Stergiou A, Haines DE

“…Navzer D Sachinvala,1 Angeline Stergiou,2 Duane E Haines3,4 1Retired, US Department of Agriculture-Agricultural Research Service, New Orleans, LA 70124, USA; 2Department of Medicine, Fairfield Medical Center, Lancaster, OH 43130, USA; 3Department of Neurobiology and Anatomy, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA; 4Department of Neurobiology and Anatomy, The University of Mississippi Medical Center, Jackson, MS 39216, USA Abstract: In this report, we discuss the case of an multiple sclerosis (MS) patient, age 62, who learned to attain and sustain euthymia despite his ailments. He has Ehlers Danlos Syndrome (EDS), asthma, MS, urticaria, and major depression (MD). …”
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Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome by Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

“…The TNXB gene encodes an extracellular matrix glycoprotein, tenascin-X (TNX), and defects in TNXB cause Ehlers-Danlos syndrome. Deletions affecting both CYP21A2 and TNXB result in a contiguous gene deletion syndrome known as CAH-X syndrome. …”
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Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review by Merlin G. Butler, Waheeda A. Hossain, Jacob Steinle, Harry Gao, Eleina Cox, Yuxin Niu, May Quach, Olivia J. Veatch

“…Disturbed collagen leads to hypermobility, hyperextensible skin and tissue fragility with musculoskeletal, cardiovascular, immune and other organ involvement as seen in hereditary disorders of connective tissue including Ehlers–Danlos syndrome. Recently, <i>FMR1</i> premutation repeat expansion or carrier status has been reported in individuals with connective tissue disorder-related symptoms. …”
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Effects of interdisciplinary pain rehabilitation programs on neuropathic and non-neuropathic chronic pain conditions – a registry-based cohort study from Swedish Quality Registry f... by Nazdar Ghafouri, Emmanuel Bäckryd, Elena Dragioti, Marcelo Rivano Fischer, Åsa Ringqvist, Björn Gerdle

“…This group was compared to a non-neuropathic group (n = 14,355) composed of common diagnoses (low back pain, fibromyalgia, whiplash associated disorders, and Ehlers-Danlos Syndrome) in relation to background variables, three overall outcome variables, and mandatory outcome variables (pain intensity, psychological distress symptoms, activity/participation aspects and health-related quality of life variables). …”
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Patients With Rare Diseases and the Power of Online Support Groups: Implications for the Medical Community by Sadaf Ashtari, Adam Taylor

“…We will be using patients with Ehlers-Danlos Syndrome (EDS) as a typical representation of the wider group of patients with genetic disorders. …”
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The link between idiopathic intracranial hypertension, fibromyalgia, and chronic fatigue syndrome: exploration of a shared pathophysiology by Hulens M, Rasschaert R, Vansant G, Stalmans I, Bruyninckx F, Dankaerts W

“…These conditions share a strong female predominance and are frequently associated with Ehlers-Danlos syndrome.Conclusion: IICH, FM, and CFS share a large variety of symptoms that might all be explained by the same pathophysiology of increased cerebrospinal pressure. …”
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Asymptomatic Infant Rib Fractures Are Primarily Non-abuse-Related and Should Not Be Used to Assess Physical Child Abuse by Martin J. C. van Gemert, Marianne Vlaming, Steven C. Gabaeff, Peter G. J. Nikkels, H. A. Martino Neumann

“…In an attempt to help resolving this disagreement, we hypothesize that the probability of physical child abuse-related infant rib fractures is significantly lower than the probability of all other possible non-abuse-related causes of occult asymptomatic infant rib fractures, e.g., from birth trauma, prematurity, osteogenesis imperfecta, hypermobile Ehlers-Danlos Syndrome, severe chronic placental pathology (e.g., massive perivillous fibrin depositions and severe chronic histiocytic intervillositis), and vitamin-D deficiency. …”
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Markers of connective tissue dysplasia in cervical artery dissection and its predisposing factors by Maria V. Gubanova, Lyudmila A. Kalashnikova, Larisa A. Dobrynina, Кamila V. Shamtieva, Aleksandr B. Berdalin

“…We estimated 48 signs of CTD included in the Villefranche diagnostic criteria for the vascular type of EhlersDanlos syndrome, the Ghent criteria for Marfan syndrome, the Beighton criteria of joint hypermobility and some others, as well as history of headache. …”
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