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https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#1
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28192626/oral-and-mandibular-manifestations-in-the-ehlers-danlos-syndromes
#2
John Mitakides, Brad T Tinkle
The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. These various manifestations of EDS have been noted for many years, but newer diagnostic techniques and studies are shedding additional light on the challenges faced by EDS patients in the area of oral and mandibular disorders...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28191707/mechanisms-underlying-reflux-symptoms-and-dysphagia-in-patients-with-joint-hypermobility-syndrome-with-and-without-postural-tachycardia-syndrome
#3
A Fikree, Q Aziz, D Sifrim
BACKGROUND: The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. METHODS: Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment...
February 12, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28146401/no-effect-of-generalized-joint-hypermobility-on-injury-risk-in-elite-female-soccer-players
#4
Donna Blokland, Karin M Thijs, Frank J G Backx, Edwin A Goedhart, Bionka M A Huisstede
BACKGROUND: Although it has been suggested that generalized joint hypermobility (GJH) is a risk factor for injury in soccer players, it remains unclear whether this applies to elite female soccer players. PURPOSE: To investigate whether GJH is a risk factor for injury in elite female soccer players. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: Elite female soccer players in the Netherlands were screened at the start of the 2014-2015 competitive season...
February 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28145956/evaluation-of-first-ray-mobility-in-patients-with-hallux-valgus-using-weight-bearing-ct-and-a-3-d-analysis-system-a-comparison-with-normal-feet
#5
Tadashi Kimura, Makoto Kubota, Tetsuya Taguchi, Naoki Suzuki, Asaki Hattori, Keishi Marumo
BACKGROUND: Some physicians report that patients with hallux valgus have hypermobility at the tarsometatarsal (TMT) joint of the first ray and 3-dimensional (3-D) deformity. With use of non-weight-bearing and weight-bearing computed tomography (CT), we evaluated the 3-D mobility of each joint of the first ray in feet with hallux valgus compared with normal feet. METHODS: Ten feet of 10 patients with hallux valgus and 10 feet of 10 healthy volunteers with no foot disorders were examined...
February 1, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28145611/hypermobile-ehlers-danlos-syndrome-a-k-a-ehlers-danlos-syndrome-type-iii-and-ehlers-danlos-syndrome-hypermobility-type-clinical-description-and-natural-history
#6
Brad Tinkle, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz, Howard Levy
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation...
February 1, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28145606/a-framework-for-the-classification-of-joint-hypermobility-and-related-conditions
#7
Marco Castori, Brad Tinkle, Howard Levy, Rodney Grahame, Fransiska Malfait, Alan Hakim
In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines...
February 1, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28143550/spectrum-of-paediatric-rheumatic-diseases-in-nigeria
#8
Babatunde Hakeem Olaosebikan, Olufemi Oladipo Adelowo, Barakat Adeola Animashaun, Richard Oluyinka Akintayo
BACKGROUND: Paediatric rheumatology service in Sub-Sahara African is virtually not available as there is a shortage of paediatric rheumatologists and other rheumatology health professionals. We aim to describe the clinical spectrum and the frequencies of paediatric rheumatic diseases (PRDs) in Lagos State University Teaching Hospital (LASUTH), Lagos, Nigeria. METHODS: This is a retrospective review of patients with PRDs seen over a five year period (March 2010 to February 2016) at the rheumatology clinic and children ward of LASUTH...
January 31, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28141941/outcome-of-hip-impingement-surgery
#9
Florian D Naal, Aileen Müller, Viju D Varghese, Vanessa Wellauer, Franco M Impellizzeri, Michael Leunig
BACKGROUND: Generalized joint hypermobility (JH) might negatively influence the results of surgical femoroacetabular impingement (FAI) treatment, as JH has been linked to musculoskeletal pain and injury incidence in athletes. JH may also be associated with worse outcomes of FAI surgery in thin females. PURPOSE: To (1) determine the results of FAI surgery at a minimum 2-year follow-up by means of patient-reported outcome measures (PROMs) and failure rates, (2) assess the prevalence of JH in FAI patients and its effect on outcomes, and (3) identify other risk factors associated with treatment failure...
January 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28116313/the-influence-of-the-straighten-your-back-command-on-the-sagittal-spinal-curvatures-in-children-with-generalized-joint-hypermobility
#10
Dariusz Czaprowski, Paulina Pawłowska, Aleksandra Kolwicz-Gańko, Dominik Sitarski, Agnieszka Kędra
Objectives. The aim of the study was to assess the change of sagittal spinal curvatures in children with generalized joint hypermobility (GJH) instructed with "straighten your back" command (SYB). Methods. The study included 56 children with GJH. The control group consisted of 193 children. Sacral slope (SS), lumbar lordosis (LL), global thoracic kyphosis (TK), lower thoracic kyphosis (LK), and upper thoracic kyphosis (UK) were assessed with Saunders inclinometer both in spontaneous positions (standing and sitting) and after the SYB...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#11
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#12
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28053253/minimally-invasive-periacetabular-osteotomy-using-a-modified-smith-petersen-approach-technique-and-early-outcomes
#13
O H Khan, A Malviya, P Subramanian, D Agolley, J D Witt
AIMS: Periacetabular osteotomy is an effective way of treating symptomatic hip dysplasia. We describe a new minimally invasive technique using a modification of the Smith-Peterson approach. We performed a prospective, longitudinal cohort study to assess for any compromise in acetabular correction when using this approach, and to see if the procedure would have a higher complication rate than that quoted in the literature for other approaches. We also assessed for any improvement in functional outcome...
January 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28052441/joint-hypermobility-and-oligoarticular-juvenile-idiopathic-arthritis-what-relationship
#14
Vanessa Cecchin, Francesca Sperotto, Marta Balzarin, Fabio Vittadello, Giorgia Martini, Francesco Zulian
AIM: Oligoarticular onset juvenile idiopathic arthritis (oJIA) is characterised by a prevalent lower limb involvement, antinuclear antibodies (ANA) positivity and high risk of anterior uveitis. As we observed that oJIA patients frequently present with joint hypermobility (JH), we investigated whether there was a relationship between oJIA and JH. METHODS: Our series consisted of children with oJIA, as defined by the International League of Associations for Rheumatology criteria, for whom complete clinical data of at least 2 years' duration were available...
January 4, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28051109/ehlers-danlos-syndrome-hypermobility-type-is-associated-with-rheumatic-diseases
#15
Kyla R Rodgers, Jiang Gui, Mary Beth P Dinulos, Richard C Chou
We retrospectively analyzed electronic medical records of patients with Ehlers-Danlos Syndrome hypermobility type (HEDS), including demographic information, workup, rheumatological diagnoses in order to determine its association with rheumatological conditions. HEDS Patients were stratified according to level of workup received (no additional work (physical exam only) = NWU, limited workup = LWU, comprehensive workup = CWU)). HEDS patients were predominantly female (21:4, F:M). The percentage of patients with at least one rheumatological condition was significantly correlated with level of workup (NWU, 9...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27990838/multiple-perforation-of-small-intestine-diverticula-in-a-patient-with-ehlers-danlos-syndrome
#16
Raúl Honrubia Lopez, Aurora Burgos García, Elena Palacios Lázaro
Ehlers-Danlos syndrome represents a group of hereditary connective tissue disorders characterized by ligamentous hyperlaxity, fragile skin and joint hypermobility. Gastrointestinal complications in this syndrome are less well known.
January 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27973938/anesthetic-management-of-a-patient-with-ehlers-danlos-syndrome
#17
Naohiro Ohshita, Masahiko Kanazumi, Kaname Tsuji, Hiroaki Yoshida, Shosuke Morita, Yoshihiro Momota, Yasuo M Tsutsumi
We describe the case of a 37-year-old woman who had been diagnosed with Ehlers-Danlos syndrome (EDS) 4 years earlier and was scheduled to undergo removal of synovial chondromatosis in the temporomandibular joint. EDS is a heritable connective tissue disorder and has 6 types. In this case, the patient was classified into EDS hypermobility type. The major clinical feature of this type is joint hypermobility. The patient had sprain or subluxation of the elbows and ankles and dislocation of the knees. Anticipated problems during general anesthesia would be affected by the disease type...
2016: Anesthesia Progress
https://www.readbyqxmd.com/read/27921302/the-role-of-embryo-movement-in-the-development-of-the-furcula
#18
A S Pollard, S Boyd, I M McGonnell, A A Pitsillides
The pectoral girdle is a complex structure which varies in its morphology between species. A major component in birds is the furcula, which can be considered equivalent to a fusion of the paired clavicles found in many mammals, and the single interclavicle found in many reptiles. These elements are a remnant of the dermal skeleton and the only intramembranous bones in the trunk. Postnatally, the furcula plays important mechanical roles by stabilising the shoulder joint and acting as a mechanical spring during flight...
December 6, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#19
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
February 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/27863848/hypermobility-and-musculoskeletal-pain-in-adolescents
#20
Susan L Morris, Peter B O'Sullivan, Kevin J Murray, Natasha Bear, Beth Hands, Anne J Smith
OBJECTIVE: To determine the prevalence of generalized joint hypermobility (GJH) in a large cohort of Australian children and determine the associations between GJH and musculoskeletal pain. STUDY DESIGN: This is a cross-sectional analysis of the Western Australian Pregnancy Cohort (Raine) Study. Hypermobility was measured in 1584 participants at 14 years of age using the Beighton scoring system, along with a range of other factors including musculoskeletal pain status...
February 2017: Journal of Pediatrics
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