Orphan Heritable Thoracic Aortic Diseases and Pregnancy. Modern Outlooks and Guidance by S. O. Siromakha

“…In this paper, HTAD are considered which occur (or are identified) quite rare but provide a significant risk for patients, which is significantly increased during pregnancy (multisystemic smooth muscle dysfunction syndrome, Meester Lois syndrome, LOX and PRKG1 genes mutations, vascular Ehlers-Danlos syndrome, mutations in TGFB2, TGFBR1, TGFBR2, SMAD3 loci, Loeys-Dietz syndrome). …”
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Symptomatic generalised joint hypermobility and autism spectrum disorder are associated in adults by M. Glans, S. Bejerot, M. Elwin, M. Humble

“… Introduction Intriguingly, autism spectrum disorders (ASD) and symptomatic generalised joint hypermobility (S-GJH) (e.g. hypermobility spectrum disorders and Ehlers Danlos Syndrome) share several clinical manifestations including motor difficulties, sensory hypersensitivity and autonomic dysfunction. …”
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4060 A Telehealth Approach to Improving Healthcare to Rural and Underserved Populations by Erica Francis, Jennifer Kraschnewski, Ruth Hogentogler, Kimberly Buckner, Jackie Sabol, Kara Bowers

“…RESULTS/ANTICIPATED RESULTS: Clinical topics launched include Medication Assisted Treatment for Opioid Use Disorder, Ehlers Danlos Syndrome, Polyneuropathy, and Dementia. In addition, we launched a nutrition-focused ECHO with Boy Scout summer camp leaders in 26 states, reaching 107,347 scouts. …”
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Association between adult adhd and generalised joint hypermobility, with and without systemic manifestations: A case-control study by M. Glans, S. Bejerot, M. Humble, M. Elwin, N. Thelin

“…Exploratively, reported musculoskeletal symptoms and abnormal skin manifestations suggestive of symptomatic GJH (e.g. Ehlers-Danlos syndrome), were assessed to differentiate this group from the general GJH group. …”
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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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Impact of the US Food and Drug Administration warning regarding increased risk of aortic aneurysms or aortic dissections on fluoroquinolone prescribing trends by Emily L Heil, John G Rizk, Julia F Slejko, Dominique Seo, Danya M Qato

“…This warning specifically targeted older adults and patients with conditions such as hypertension, Marfan syndrome, Ehlers-Danlos syndrome, atherosclerosis, peripheral vascular disease and history of aneurysms.Objective To evaluate the impact of the safety warning on prescribing trends of FQs in the targeted population.Methods This cross-sectional study with an interrupted time series (ITS) analysis (January 2018–December 2019) used a 25% random sample of IQVIA PharMetrics® Plus for Academics health plan claims database. …”
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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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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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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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The Successful Replacement of Aortic Valve and Ascending Aorta in Patients with Type A Aortic Dissection in the Postpartum Period. The Analysis of Literature and Demonstration of O... by Z. R. Akhmedov, S. S. Niyazov, V. S. Selyaev, V. V. Vladimirov, K. M. Torshkhoyev, A. I. Kovalev, A. V. Redkoborody, M. A. Sagirov, S. Yu. Kambarov, L. S. Kokov, O. B. Shakhova

“…In women with Marfan syndrome and aortic dissection in the family history, as well as in the presence of more aggressive genetic diseases (Loeys-Dietz syndrome, Ehlers-Danlos syndrome), it is possible to consider preventive surgical treatment for an aortic diameter of 4.0 cm or more.The delivery in high-risk patients is recommended to be performed in a hospital that has a cardiac surgery service and an “aortic” team.…”
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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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Increased Risk of Patellofemoral Instability Events and Surgical Management in Patients With Joint Hypermobility Syndromes: A Matched Cohort Analysis by Michael J. Kutschke, M.D., J. Alex Albright, B.S., Julia M. Winschel, B.A., M.P.H., Elaine W. He, B.S., Aristides I. Cruz, Jr., M.D., M.B.A., Alan H. Daniels, M.D., Brett D. Owens, M.D.

“…Records were queried between 2010 and 2021 with a diagnosis of JHS, including Ehlers-Danlos syndrome (EDS) and Marfan syndrome. Propensity matching was performed with a randomly generated control cohort without a diagnosis of JHS to account for age, sex, Charlson comorbidity index, diabetes, and obesity. …”
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Comorbidities and neurosurgical interventions in a cohort with connective tissue disorders by Ilene S. Ruhoy, Paolo A. Bolognese, Jared S. Rosenblum, Randall A. Dass, Navdeep S. Nayyer, Navdeep S. Nayyer, Jeffrey D. Wood, Jeffrey D. Wood, John B. Biggins, John B. Biggins

“…Some CTDs such as hypermobile Ehlers-Danlos syndrome (hEDS), which is one of the most common, have been associated with neurological disorders requiring surgical intervention. …”
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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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