2016-17

länkar i anslutning till föreläsningar 2016 – 2017 uppdaterat 2017-09-12
Lidköping 16/11  -16
Luleå 18/11 och 30/11  -16
Göteborg  25/11 och 27/11  -16
Malmköping 13/9 2017    EDS_2017_malmköping
Umeå 14-15/9  2017       EDS och Barn_Umeå_2017

Ett urval länkar till publikationer via PubMed som handlar om Ehlers-Danlos syndrom
allmänt men främst om hypermobilitetstypen och hypermobilitetssyndromet HMS

  1. Allmänt EDS- HMS
  2. Smärta
  3. Mage-tarm
  4. Odontologi
  5. POTS
  6. Fatigue
  7. Ortopedi
  8. Psykiatri/Neuropsykiatri
  9. Gynekologi
  10. Neurologi
  11. Dysautonomi
  12. Blödningsproblem
  13. Råd vid kirurgi och sövning
  14. Livskvalitet
  15. Pat fall
  16. Fysioterpi
  17. Diverse länkar
  18. Vårdprogram
  19. Egna artiklar

Allmänt EDS HMS

GeneReviews en sammanställning av genetiska tillstånd. Uppdateras regelbundet.
EDS Klassisk typ
EDS Hypermobilitetstypen
EDS vaskulära typen

The Ehlers-Danlos syndrome, a disorder with many faces.

De Paepe A, Malfait F.

Clin Genet. 2012 Jul;82(1):1-11. doi: 10.1111/j.1399-0004.2012.01858.x. Review.

 

The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome).

Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D.

Am J Med Genet A. 2009 Nov;149A(11):2368-70. doi: 10.1002/ajmg.a.33070

 

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

Chiarelli N, Carini G, Zoppi N, Dordoni C, Ritelli M, Venturini M, Castori M, Colombi M.

PLoS One. 2016 Aug 12;11(8):e0161347. doi: 10.1371/journal.pone.0161347.

 

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Review.

 

The Genetics of Soft Connective Tissue Disorders.

Vanakker O, Callewaert B, Malfait F, Coucke P.

Annu Rev Genomics Hum Genet. 2015;16:229-55. doi: 10.1146/annurev-genom-090314-050039. Review.

 

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.

Castori M, Dordoni C, Valiante M, Sperduti I, Ritelli M, Morlino S, Chiarelli N, Celletti C, Venturini M, Camerota F, Calzavara-Pinton P, Grammatico P, Colombi M.

Am J Med Genet A. 2014 Dec;164A(12):3010-20. doi: 10.1002/ajmg.a.36805.

Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Castori M, Morlino S, Celletti C, Ghibellini G, Bruschini M, Grammatico P, Blundo C, Camerota F.

American journal of medical genetics. Part A. Am J Med Genet A. 2013 Dec;161A(12):2989-3004. doi: 10.1002/ajmg.a.36315. Review.

Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations.

Castori M.      ISRN Dermatol. 2012;2012:751768.

 

 

Presentationer från USA

Classical Ehlers-Danlos Syndrome
Connecting the Dots Between Ehlers-Danlos Syndrome and Related Conditions
Proving the Obvious: Next Steps for the Demystification of Ehlers Danlos Hypermobility Type

Rodney Grahame: EDS  Past Present & future

Smärta

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment.

Voermans NC, Knoop H, Bleijenberg G, van Engelen BG.

J Pain Symptom Manage. 2010 Sep;40(3):370-8. doi: 10.1016/j.jpainsymman.2009.12.026.

 

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis.

Rombaut L, Malfait F, De Paepe A, Rimbaut S, Verbruggen G, De Wandele I, Calders P.

Arthritis Rheum. 2011 Jul;63(7):1979-87. doi: 10.1002/art.30337.

 

Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

Scheper MC, de Vries JE, Verbunt J, Engelbert RH.

J Pain Res. 2015 Aug 20;8:591-601. doi: 10.2147/JPR.S64251. Review.

 

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia.

Rombaut L, Scheper M, De Wandele I, De Vries J, Meeus M, Malfait F, Engelbert R, Calders P.

Clin Rheumatol. 2015 Jun;34(6):1121-9. doi: 10.1007/s10067-014-2499-0.

 

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment.

Voermans NC, Knoop H, Bleijenberg G, van Engelen BG.

J Pain Symptom Manage. 2010 Sep;40(3):370-8. doi: 10.1016/j.jpainsymman.2009.12.026.

 

Musculoskeletal pain in schoolchildren across puberty: a 3-year follow-up study.

Sperotto F, Brachi S, Vittadello F, Zulian F.

Pediatr Rheumatol Online J. 2015 May 15;13:16. doi: 10.1186/s12969-015-0014-z.

Presentation från USA

Lokalanestesi hos tandläkaren    beskriver hur bedövningsmedel ej tar på EDS patienter

Pain management in Ehlers Danlos Syndrome – 2015

Mage-Tarm

Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P.

American journal of medical genetics. Part C, Seminars in medical genetics. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):54-75. doi: 10.1002/ajmg.c.31431. Review.

 

The association between Ehlers-Danlos syndrome-hypermobility type and gastrointestinal symptoms in university students: a cross-sectional study.

Fikree A, Aktar R, Morris JK, Grahame R, Knowles CH, Aziz Q.

Neurogastroenterol Motil. 2016 Sep 28. doi: 10.1111/nmo.12942

 

Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic.

Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, Camilleri M.

Neurogastroenterol Motil. 2015 Nov;27(11):1657-66. doi: 10.1111/nmo.12665.

 

Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Baeza-Velasco C, Van den Bossche T, Grossin D, Hamonet C.

Eat Weight Disord. 2016 Jun;21(2):175-83. doi: 10.1007/s40519-015-0232-x. Review.

 

Joint hypermobility: a common association with complex functional gastrointestinal disorders.

Kovacic K, Chelimsky TC, Sood MR, Simpson P, Nugent M, Chelimsky G.

J Pediatr. 2014 Nov;165(5):973-8. doi: 10.1016/j.jpeds.2014.07.021.

 

Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome.

Av A Fikree och medarbetare 2017

Functional Digestive Symptoms and Quality of Life in Patients with Ehlers-Danlos Syndromes: Results of a National Cohort Study on 134 Patients

En fransk studie från 2013

Presentation från USA

GI Disorders in Children with Hypermobility Syndrome

 

Odontologi

Oral health in prevalent types of Ehlers-Danlos syndromes.

De Coster PJ, Martens LC, De Paepe A.

J Oral Pathol Med. 2005 May;34(5):298-307.

Ortostatisk intolerans och POTS

Publikation av bl a Alan Hakim och Peter Rowe inför den nya klassifikationen 2016
Cardiovascular Autonomic Dysfunction in Ehlers–Danlos Syndrome—Hypermobile Type”

Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance

Emily M Garland  Nashville USA 2015

 

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

C Celletti, Marco Castori m fl 2017

 

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

De Wandele I, Rombaut L, De Backer T, Peersman W, Da Silva H, De Mits S, De Paepe A, Calders P, Malfait F.

Rheumatology (Oxford). 2016 Aug;55(8):1412-20. doi: 10.1093/rheumatology/kew032.

 

Clinical challenges in the diagnosis and management of postural tachycardia syndrome.

Jones PK, Shaw BH, Raj SR.
Pract Neurol. 2016 Sep 22.

 

Artur Fedorowski  Docent, Hjärtläkare i Lund och medarbetare har publicerat följande 2017 och många andra studier kring POTS och ortostatisk intolerans

Antiadrenergic autoimmunity in postural tachycardia syndrome.

 

Presentation från EDNF  USA

POTS och HMS

Ortostatisk intolerans  inte bara POTS

Fatigue

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome.

Voermans NC, Knoop H, van de Kamp N, Hamel BC, Bleijenberg G, van Engelen BG.

Semin Arthritis Rheum. 2010 Dec;40(3):267-74. doi: 10.1016/j.semarthrit.2009.08.003.

Too Tired: EDS and Fatigue

Ortopedi

Impact of joint laxity and hypermobility on the musculoskeletal system.

Wolf JM, Cameron KL, Owens BD.

J Am Acad Orthop Surg. 2011 Aug;19(8):463-71. Review.

Psykiatri/ Neuropsykiatri

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.

Sinibaldi L, Ursini G, Castori M.

Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):97-106. doi: 10.1002/ajmg.c.31430. Review.

A connective tissue disorder may underlie ESSENCE problems in childhood.
Baeza-Velasco C, Grahame R, Bravo JF.
Res Dev Disabil. 2016 Oct 29.

Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

av samma författare som ovan. publ 2017

 

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings

En svensk studie av Cederlöf M, Larsson H, Lichtenstein P, Almqvist C, Serlachius E, Ludvigsson JF.
BMC psychiatry”>BMC Psychiatry. 2016 Jul 4;16:207.

Problems with diagnosing Conversion Disorder  in response to variable and unusual symptoms

Fallbeskrivning där hysteri diagnos visade sig vara EDS med dysautonomi, PoTS  2014

 

EDNF presentation

Pain, poor sleep, depression and fatigue

Gynekologi Obstetrik

Pregnancy and delivery in ehlers-danlos syndrome (hypermobility type): review of the literature.

Dutta I, Wilson H, Oteri O.

Obstet Gynecol Int. 2011;2011:306413. doi: 10.1155/2011/306413.

Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study.

Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A.

Orphanet J Rare Dis. 2016 Sep 13;11(1):124. doi: 10.1186/s13023-016-0511-2.

Neurologi

Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori M, Voermans NC.

Iran J Neurol. 2014 Oct 6;13(4):190-208. Review.

Dysautonomi

Cardiovascular Autonomic Dysfunction in Ehlers–Danlos Syndrome—Hypermobile Type

Publikation av bl a Alan Hakim och Peter Rowe inför den nya klassifikationen 2016

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome.

De Wandele I, Rombaut L, Leybaert L, Van de Borne P, De Backer T, Malfait F, De Paepe A, Calders P.

Semin Arthritis Rheum. 2014 Aug;44(1):93-100. doi: 10.1016/j.semarthrit.2013.12.006.

 

Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls.

De Wandele I, Calders P, Peersman W, Rimbaut S, De Backer T, Malfait F, De Paepe A, Rombaut L.

Semin Arthritis Rheum. 2014 Dec;44(3):353-61. doi: 10.1016/j.semarthrit.2014.05.013.

Blödningsbenägenhet

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment.

Malfait F, De Paepe A.

Blood Rev. 2009 Sep;23(5):191-7. doi: 10.1016/j.blre.2009.06.001. Review.

 

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.

De Paepe A, Malfait F.

Br J Haematol. 2004 Dec;127(5):491-500. Review.

Råd vid kirurgi och sövning

Surgical recommendations in Ehlers-Danlos syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome).

Castori M.

Dig Surg. 2012;29(6):453-5. doi: 10.1159/000346068.

 

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s).

Wiesmann T, Castori M, Malfait F, Wulf H.

Orphanet J Rare Dis. 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. Review.

Livskvalitet

Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome.

Bovet C, Carlson M, Taylor M.

Am J Med Genet A. 2016 Aug;170(8):2044-51. doi: 10.1002/ajmg.a.37774.

Patientfall

Arthralgias, fatigue, paresthesias and visceral pain: can joint hypermobility solve the puzzle? A case report.

Folci M, Capsoni F.

BMC Musculoskelet Disord. 2016 Feb 4;17:58. doi: 10.1186/s12891-016-0905-2

Exempel på typisk sjukhistoria från unga år till nu pensionär, självbiografiskt beskrivet. Publicerat i senaste EDS-nytt
Birgitta Nordbloms resa

Fysioterapi

Children with generalised joint hypermobility and musculoskeletal complaints: state of the art on diagnostics, clinical characteristics, and treatment.

Scheper MC, Engelbert RH, Rameckers EA, Verbunt J, Remvig L, Juul-Kristensen B.

Biomed Res Int. 2013;2013:121054. doi: 10.1155/2013/121054.

 

The effectiveness of therapeutic exercise for joint hypermobility syndrome: a systematic review.

Palmer S, Bailey S, Barker L, Barney L, Elliott A.

Physiotherapy. 2014 Sep;100(3):220-7. doi: 10.1016/j.physio.2013.09.002. Revie

Presentationer från USA

Muldoney Presentation ang fysioterapi

Zonarich Fysioterapi

Lavalee Fysioterapi

Diverse länkar

EDS organisationen i USA har många bra presentationer från deras årliga konferenser

EDNF USAs Ehlers-danlosförening

2015-annual-conference flertal presentationer

2014-annual-conference flertal presentationer

Englands HMSA förening omfattar också EDS

HMSA

Svenska EDS förbundet har nyligen bytt styrelse helt och hållet och jobbar hårt med att förnya sin roll i vårt land. Hemsidan helt omarbetad och fortfarande under construction.

Svenska Ehlers-Danlos förbundet

Vårdprogram

Kunskapsstöd/vårdprogram från Region Östergötland, Kalmar och Jönköping

Egna artiklar

EDS och hypermobilitetssyndromet

EDS en modediagnos som förtjänar uppmärksamhet/

Föreläsningen november 2016 i PDF format

Presentation om EDS i Luleå nov 2016 för allmänläkarna på ALK dagarna
Presentation om EDS i Göteborg 27/11 2016 för patientgrupp

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