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https://www.readbyqxmd.com/read/28211643/postural-analysis-in-a-pediatric-cohort-of-patients-with-ehlers-danlos-syndrome-a-pilot-study
#1
Claudio Lisi, Serena Monteleone, Carmine Tinelli, Berardo Rinaldi, Giuseppe Di Natali, Salvatore Savasta
BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Therefore, our work aims to assess the occurrence of these alterations in a pediatric cohort of EDS patients...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#2
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
#3
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
#4
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/28167178/chronic-pain-in-a-patient-with-ehlers-danlos-syndrome-hypermobility-type-the-role-of-myofascial-trigger-point-injections
#5
Saipriya Tewari, Rajashree Madabushi, Anil Agarwal, Sujeet K Gautam, Sandeep Khuba
Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Physical examination of the back revealed two myofascial trigger points over the left rhomboids and the left erector spinae. Local anaesthetic trigger point injections were given at these points, followed by stretching exercises under analgesic cover for the first week...
January 2017: Journal of Bodywork and Movement Therapies
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/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
#9
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
#10
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/28051109/ehlers-danlos-syndrome-hypermobility-type-is-associated-with-rheumatic-diseases
#11
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
#12
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
#13
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/27931013/the-influence-of-ehlers-danlos-syndrome-hypermobility-type-on-motherhood-a-phenomenological-hermeneutical-study
#14
Stijn De Baets, Marieke Vanhalst, Marieke Coussens, Lies Rombaut, Fransiska Malfait, Geert Van Hove, Patrick Calders, Guy Vanderstraeten, Dominique van de Velde
BACKGROUND: The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. METHOD: A phenomenological-hermeneutical study, using in-depth interviews...
January 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#15
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/27905201/the-symptom-matrix-using-a-formalism-based-approach-to-address-complex-syndromes-systematically
#16
Jennifer D Skillen
Complex rheumatological syndromes such as Systemic lupus erythematosus, Sjogren's Syndrome and many connective tissue disorders can be a challenge to classify and diagnose, due to their wide-ranging signs and symptoms, not all of which will necessarily be present in all patients. This can result in difficulties for the clinician, patient and researcher if signs and symptoms are either overlooked or are incorrectly included in the nosology or classification of diseases. This article presents a formalism-based approach to describing syndromes...
December 1, 2016: Musculoskeletal Care
https://www.readbyqxmd.com/read/27874893/abnormal-wound-healing-related-to-high-dose-systemic-corticosteroid-therapy-in-a-patient-with-ehlers-danlos-syndrome-benign-hypermobility-type
#17
Stephanie K Jacks, Matthew J Zirwas
The adverse impact of chronic corticosteroid therapy on wound healing has been well characterized, as has abnormal wound healing known to occur in the classic type of Ehlers-Danlos syndrome (EDS). In contrast, abnormal wound healing is absent in cases of EDS benign hypermobility type (EDS-BHT). We present the case of a patient with EDS-BHT with no history of abnormal wound healing who developed large nonhealing ulcers to sites of minor trauma after initiating therapy with high-dose systemic corticosteroids for dermatomyositis...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27852077/koolen-de-vries-syndrome-clinical-report-of-an-adult-and-literature-review
#18
REVIEW
Claudia Ciaccio, Chiara Dordoni, Marco Ritelli, Marina Colombi
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#19
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M E Suzanne Lewis
BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. CASE PRESENTATION: In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11...
November 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27824552/ehlers-danlos-syndrome-hypermobility-type-a-much-neglected-multisystemic-disorder
#20
REVIEW
Yael Gazit, Giris Jacob, Rodney Grahame
Ehlers-Danlos syndrome (EDS)-hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints...
October 31, 2016: Rambam Maimonides Medical Journal
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