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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Abstract 101: Ophthalmic Artery Aneurysm Embolization Resulting in Resolution of Headaches and Visual Symptoms by Savanna Dasgupta

“…Methods We report the case of a 55 year‐old woman with Ehlers‐Danlos syndrome and syringomyelia who presented to the hospital with one week of intermittent left eye visual disturbances, characterized by either complete transient monocular vision loss or blurriness lasting for 30 seconds at a time and occurring multiple times per day. …”
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Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach. by Mark Stanworth, Shu-Dong Zhang

“…Disease causal genes were added to the relevant gene list and checked against Gene Ontology, Phenotype Ontology, and Elsevier Pathways via Enrichr before the significant ontologies containing causal and non-overlapping genes were reviewed with a literature search for possible disease and oxidative stress associations. 12 significant individually discriminated disorders were identified: Autosomal Dominant Cutis Laxa (p = 6.05x10-7), Renal Tubular Dysgenesis of Genetic Origin (p = 6.05x10-7), Lethal Arteriopathy Syndrome due to Fibulin-4 Deficiency (p = 6.54x10-9), EMILIN-1-related Connective Tissue Disease (p = 6.54x10-9), Holt-Oram Syndrome (p = 7.72x10-10), Multisystemic Smooth Muscle Dysfunction Syndrome (p = 9.95x10-15), Distal Hereditary Motor Neuropathy type 2 (p = 4.48x10-7), Congenital Glaucoma (p = 5.24x210-9), Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (p = 3.77x10-16), Classical-like Ehlers-Danlos Syndrome type 1 (p = 3.77x10-16), Retinoblastoma (p = 1.9x10-8), and Lynch Syndrome (p = 5.04x10-9). 35 novel (21 unique) genes across 12 disorders were identified: ADNP, AOC3, CDC42EP2, CHTOP, CNN1, DES, FOXF1, FXR1, HLTF, KCNMB1, MTF2, MYH11, PLN, PNPLA2, REST, SGCA, SORBS1, SYNPO2, TAGLN, WAPL, and ZMYM4. …”
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Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS) by Shan Chen, Mahim Jain, Shalini Jhangiani, Zeynep C Akdemir, Philippe M Campeau, Robert F Klein, Carrie Nielson, Hongzheng Dai, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, Eric S Orwoll, James R Lupski, Jennifer E Posey, Brendan Lee

“…Additionally, sets of candidate genes causative of heritable disorders of connective tissue, including osteogenesis imperfecta (OI) and Ehlers‐Danlos syndrome (EDS), were grouped for multigene and mutation burden analyses. …”
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Development of a facile method to compute collagen network pathological anisotropy using AFM imaging by Emilie Khattignavong, Mehrnoosh Neshatian, Mina Vaez, Amaury Guillermin, Josephine T. Tauer, Marianne Odlyha, Nimish Mittal, Svetlana V. Komarova, Hassan Zahouani, Laurent Bozec

“…Here we studied the changes in the structural parameters of collagen fibrils in Ehlers Danlos Syndrome (EDS). We have used skin extracted from genetically mutant mice that exhibit EDS phenotype as our model system (Col1a1 Jrt/+ mice). …”
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Mismatch between subjective and objective dysautonomia by Peter Novak, David M. Systrom, Sadie P. Marciano, Alexandra Knief, Donna Felsenstein, Matthew P. Giannetti, Matthew J. Hamilton, Jennifer Nicoloro-SantaBarbara, Tara V. Saco, Mariana Castells, Khosro Farhad, David M. Pilgrim, William J. Mullally

“…There continued to be no correlations between subjective and objective instruments for selected diagnoses (post-acute sequelae of COVID-19, n = 61; postural tachycardia syndrome, 211; peripheral autonomic neuropathy, 463; myalgic encephalomyelitis/chronic fatigue syndrome, 95; preload failure, 120; post-treatment Lyme disease syndrome, 163; hypermobile Ehlers-Danlos syndrome, 213; neurogenic orthostatic hypotension, 86; diabetes type II, 71, mast cell activation syndrome, 172; hereditary alpha tryptasemia, 45). …”
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A zebrafish screen for craniofacial mutants identifies wdr68as a highly conserved gene required for endothelin-1 expression by Nissen, Robert M., Amsterdam, Adam, Hopkins, Nancy H.

“…We also identified zebrafish models for Campomelic Dysplasia and Ehlers-Danlos syndrome. To further demonstrate the utility of this method, we include a characterization of the wdr68 gene. …”
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The influence of body position on cerebrospinal fluid circulation by David Chu, Marco Muccio, Brianna Damadian, Raymond V. Damadian, Yulin Ge, Mary Gianni, Lawrence Minkoff

“…Besides delineating the many significant postural differences in CSF circulation, multi-position CSF imaging is also valuable in diagnosing various diseases such as Chiari malformation,4 Ehlers-Danlos syndrome and tethered cord syndrome in the lumbar spine. …”
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Child Abuse, Misdiagnosed by an Expertise Center—Part II—Misuse of Bayes’ Theorem by Martin J. C. van Gemert, Aeilko H. Zwinderman, Peter J. van Koppen, H. A. Martino Neumann, Marianne Vlaming

“…Her mother was diagnosed with hypermobility-type Ehlers-Danlos-Syndrome (hEDS), an autosomal dominant connective tissue disorder, with a 50% inheritance probability. …”
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Abstract 286: Endovascular Management of Pediatric Vertebro‐Vertebral Arterio‐Venous Fistula: Case report by Bharat Pillai, Mohamed F. Doheim, Priya Nidamanuri, Bishow C. Mahat, Sabri Yilmaz, Stephanie Greene, Alhamza R. Al‐Bayati

“…Introduction Vertebro‐vertebral arteriovenous fistula (VV‐AVF) is a rare vascular malformation with abnormal high flow shunt between extracranial vertebral artery and an adjacent vertebral vein plexus without intervening capillaries.1 While seen in both adult and pediatric populations, the majority of the VV‐AVFs seen in childhood are largely congenital, seen in the setting of connective tissue diseases such as Ehler‐Danlos Syndrome, Neurofibromatosis type 1, and Marfan’s syndrome, with abnormal involution of the proatlantal system also thought to be implicated.2,3,4 Approximately 70% of the presenting population are symptomatic at presentation, with a pulsatile mass over the side of the neck or pulsatile tinnitus. …”
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Rupture of dissection aneurysm of the vertebral artery followed by formation of epidural hematoma of the cervical spine: case report by Sergey A. Goroshchenko, Larisa V. Rozhchenko, Andrey E. Petrov, Natalia E. Ivanova, Aleksey Yu. Ivanov

“…Sometimes, these aneurysms result from such pathologies as neurofibromatosis, Marfan syndrome, Ehlers–Danlos syndrome, fibromuscular dysplasia and arteritides of various etiology [2–5]. …”
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Sex differences in comorbidities associated with Sjögren's disease by Katelyn A. Bruno, Katelyn A. Bruno, Katelyn A. Bruno, Andrea Carolina Morales-Lara, Edsel B. Bittencourt, Habeeba Siddiqui, Gabriella Bommarito, Jenil Patel, John M. Sousou, Gary R. Salomon, Rinald Paloka, Shelby T. Watford, David O. Hodge, Scott M. Lieberman, Todd D. Rozen, Paldeep S. Atwal, Peter T. Dorsher, Lynsey A. Seim, DeLisa Fairweather, DeLisa Fairweather, DeLisa Fairweather, DeLisa Fairweather

“…Comorbidities that occurred more often in women were hypermobile syndromes (31:1), CREST (29:1), migraine (23:1), Ehlers-Danlos syndrome (EDS) (22:1), Raynaud's syndrome (15:1), SLE (13:1), systemic sclerosis (SSc) (13:1), and fibromyalgia (12:1). …”
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Understanding how children and young people with chronic non-cancer pain and their families experience living with pain, pain management and services: a meta-ethnography by Mayara Silveira Bianchim, Line Caes, Liz Forbat, Abbie Jordan, Jane Noyes, Katie Thomson, Ruth Turley, Isabelle Uny, Emma F France

“…Conceptually rich, primary qualitative studies are needed to explore families’ experiences of services and treatments, including pain management plans, pain assessment, opioid use in children and social care services; experiences of children with autism and learning disabilities, under 5 years old, and with certain common pain conditions, such as headache, migraine and abdominal pain and with some rarer conditions such as Ehlers–Danlos syndrome; experiences of siblings and fathers of children with chronic pain; and healthcare professionals’ experiences and perceptions of chronic pain management. …”
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