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  1. Article ; Online: Childbearing with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications.

    Pearce, Gemma / Bell, Lauren / Pezaro, Sally / Reinhold, Emma

    International journal of environmental research and public health

    2023  Volume 20, Issue 20

    Abstract: One in 20 births could be affected by hypermobile Ehlers-Danlos syndrome or Hypermobility Spectrum Disorders (hEDS/HSD); however, these are under-diagnosed and lacking research. This study aimed to examine outcomes and complications in people ... ...

    Abstract One in 20 births could be affected by hypermobile Ehlers-Danlos syndrome or Hypermobility Spectrum Disorders (hEDS/HSD); however, these are under-diagnosed and lacking research. This study aimed to examine outcomes and complications in people childbearing with hEDS/HSD. A large online international survey was completed by women with experience in childbearing and a diagnosis of hEDS/HSD (
    MeSH term(s) Pregnancy ; Infant, Newborn ; Humans ; Female ; Joint Instability ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/epidemiology ; Surveys and Questionnaires ; Uterine Hemorrhage
    Language English
    Publishing date 2023-10-21
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2175195-X
    ISSN 1660-4601 ; 1661-7827
    ISSN (online) 1660-4601
    ISSN 1661-7827
    DOI 10.3390/ijerph20206957
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: 'MUS' or 'DEN'?

    Reinhold, Emma J

    The British journal of general practice : the journal of the Royal College of General Practitioners

    2017  Volume 67, Issue 657, Page(s) 156

    Language English
    Publishing date 2017-03-30
    Publishing country England
    Document type Letter
    ZDB-ID 1043148-2
    ISSN 1478-5242 ; 0035-8797 ; 0960-1643
    ISSN (online) 1478-5242
    ISSN 0035-8797 ; 0960-1643
    DOI 10.3399/bjgp17X690077
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 576: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 100: Show issues

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  3. Article ; Online: The Beighton Score as a measure of generalised joint hypermobility.

    Malek, Sabeeha / Reinhold, Emma J / Pearce, Gemma S

    Rheumatology international

    2021  Volume 41, Issue 10, Page(s) 1707–1716

    Abstract: The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It was originally developed as an epidemiological tool used in screening large populations ...

    Abstract The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It was originally developed as an epidemiological tool used in screening large populations for GJH, but later adopted as a clinical tool for diagnostic purposes. Its ability to truly reflect GJH remains controversial, as joints within the scoring system are predominantly of the upper limb and disregard many of the major joints, preventing a direct identification of GJH. Furthermore, a consistent finding in the literature whereby the BS failed to identify hypermobility in joints outside the scoring system suggests its use as an indirect indicator of GJH is also not viable. As such, the collective findings of this review demonstrate a need for a change in clinical thinking. The BS should not be used as the principle tool to differentiate between localised and generalised hypermobility, nor used alone to exclude the presence of GJH. Greater emphasis should be placed on a clinician's judgement to identify or exclude GJH, according to its full definition.
    MeSH term(s) Ehlers-Danlos Syndrome/diagnosis ; Female ; Humans ; Joint Instability/diagnosis ; Male ; Physical Examination/standards ; Reproducibility of Results
    Language English
    Publishing date 2021-03-18
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 8286-7
    ISSN 1437-160X ; 0172-8172
    ISSN (online) 1437-160X
    ISSN 0172-8172
    DOI 10.1007/s00296-021-04832-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1639: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison.

    Demmler, Joanne C / Atkinson, Mark D / Reinhold, Emma J / Choy, Ernest / Lyons, Ronan A / Brophy, Sinead T

    BMJ open

    2019  Volume 9, Issue 11, Page(s) e031365

    Abstract: Objectives: To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To examine whether these conditions remain rare and primarily affect the ... ...

    Abstract Objectives: To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To examine whether these conditions remain rare and primarily affect the musculoskeletal system.
    Design: Nationwide linked electronic cohort and nested case-control study.
    Setting: Routinely collected data from primary care and hospital admissions in Wales, UK.
    Participants: People within the primary care or hospital data systems with a coded diagnosis of EDS or joint hypermobility syndrome (JHS) between 1 July 1990 and 30 June 2017.
    Main outcome measures: Combined prevalence of JHS and EDS in Wales. Additional diagnosis and prescription data in those diagnosed with EDS or JHS compared with matched controls.
    Results: We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100 000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. There was a pronounced gender difference of 8.5 years (95% CI: 7.70 to 9.22) in the mean age at diagnosis. EDS or JHS was not only associated with high odds for other musculoskeletal diagnoses and drug prescriptions but also with significantly higher odds of a diagnosis in other disease categories (eg, mental health, nervous and digestive systems) and higher odds of a prescription in most disease categories (eg, gastrointestinal and cardiovascular drugs) within the 12 months before and after the first recorded diagnosis.
    Conclusions: EDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered.
    MeSH term(s) Adolescent ; Adult ; Aged ; Case-Control Studies ; Child ; Ehlers-Danlos Syndrome/epidemiology ; Female ; Humans ; Joint Instability/congenital ; Joint Instability/epidemiology ; Male ; Medical Record Linkage ; Middle Aged ; Prevalence ; Wales/epidemiology
    Language English
    Publishing date 2019-11-04
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2599832-8
    ISSN 2044-6055 ; 2044-6055
    ISSN (online) 2044-6055
    ISSN 2044-6055
    DOI 10.1136/bmjopen-2019-031365
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Diagnosis of mast cell activation syndrome: a global "consensus-2".

    Afrin, Lawrence B / Ackerley, Mary B / Bluestein, Linda S / Brewer, Joseph H / Brook, Jill B / Buchanan, Ariana D / Cuni, Jill R / Davey, William P / Dempsey, Tania T / Dorff, Shanda R / Dubravec, Martin S / Guggenheim, Alena G / Hindman, Kimberly J / Hoffman, Bruce / Kaufman, David L / Kratzer, Stephanie J / Lee, Theodore M / Marantz, Mindy S / Maxwell, Andrew J /
    McCann, Kelly K / McKee, Dwight L / Menk Otto, Laurie / Pace, Laura A / Perkins, Dahra D / Radovsky, Laurie / Raleigh, Mary S / Rapaport, Sonia A / Reinhold, Emma J / Renneker, Mark L / Robinson, William A / Roland, Aaron M / Rosenbloom, E Scott / Rowe, Peter C / Ruhoy, Ilene S / Saperstein, David S / Schlosser, David A / Schofield, Jill R / Settle, Janet E / Weinstock, Leonard B / Wengenroth, Martina / Westaway, Mark / Xi, Shijun Cindy / Molderings, Gerhard J

    Diagnosis (Berlin, Germany)

    2020  Volume 8, Issue 2, Page(s) 137–152

    Abstract: The concept that disease rooted principally in chronic aberrant constitutive and reactive activation of mast cells (MCs), without the gross MC neoplasia in mastocytosis, first emerged in the 1980s, but only in the last decade has recognition of "mast ... ...

    Abstract The concept that disease rooted principally in chronic aberrant constitutive and reactive activation of mast cells (MCs), without the gross MC neoplasia in mastocytosis, first emerged in the 1980s, but only in the last decade has recognition of "mast cell activation syndrome" (MCAS) grown significantly. Two principal proposals for diagnostic criteria have emerged. One, originally published in 2012, is labeled by its authors as a "consensus" (re-termed here as "consensus-1"). Another sizable contingent of investigators and practitioners favor a different approach (originally published in 2011, newly termed here as "consensus-2"), resembling "consensus-1" in some respects but differing in others, leading to substantial differences between these proposals in the numbers of patients qualifying for diagnosis (and thus treatment). Overdiagnosis by "consensus-2" criteria has potential to be problematic, but underdiagnosis by "consensus-1" criteria seems the far larger problem given (1) increasing appreciation that MCAS is prevalent (up to 17% of the general population), and (2) most MCAS patients, regardless of illness duration prior to diagnosis, can eventually identify treatment yielding sustained improvement. We analyze these proposals (and others) and suggest that, until careful research provides more definitive answers, diagnosis by either proposal is valid, reasonable, and helpful.
    MeSH term(s) Consensus ; Humans ; Mast Cells ; Mastocytosis/diagnosis
    Language English
    Publishing date 2020-04-22
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ISSN 2194-802X
    ISSN (online) 2194-802X
    DOI 10.1515/dx-2020-0005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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