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  • 1
    Online Resource
    Online Resource
    A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
    Springer Science and Business Media LLC ; 2021
    In:  Orphanet Journal of Rare Diseases Vol. 16, No. 1 ( 2021-12)
    Details
    In: Orphanet Journal of Rare Diseases, Springer Science and Business Media LLC, Vol. 16, No. 1 ( 2021-12)
    Abstract: Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future. Methods The Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology. Results More than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults. Conclusion The Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.
    Type of Medium: Online Resource
    ISSN: 1750-1172
    URL: Article
    DOI: 10.1186/s13023-021-01682-y
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2225857-7
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  • 2
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    A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta
    Wiley ; 2020
    In:  JBMR Plus Vol. 4, No. 12 ( 2020-12)
    Details
    In: JBMR Plus, Wiley, Vol. 4, No. 12 ( 2020-12)
    Abstract: Osteogenesis imperfecta (OI) is characterized by bone fragility and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity, and short stature. It was thought that health‐related quality of life (QoL) in patients with OI mainly depends on the severity of the skeletal deformities. However, it has become clear that additional factors can affect the QoL in all patients with OI. In this study, we compare dimensions of QoL in adults with OI with a control population. The SF‐36 questionnaire was distributed among 330 adult patients with different OI types. Results were compared with two control populations from the Netherlands. Age‐matched comparisons were made with one of the two control populations. The results were summarized in eight domains: general and mental health, physical and social function, bodily pain, vitality, and physical and emotional role. General health and physical function in all types of OI are low compared with controls, except patients with OI type 4 aged 55+ years. Bodily pain in patients with OI appeared significantly worse than in the control population. There was no significant difference between OI types regarding pain and vitality. Vitality was only in the OI type 1 group significantly lower compared with controls. Patients with OI type 1 had a significantly reduced mental health. Social functioning appeared most effective in type 3 around 20 years of age. QoL in adult patients with OI should be an important outcome measure in every OI clinic, but the amount of baseline data on this subject is sparse. This baseline measurement study is the largest study to date investigating QoL in adult patients with OI. The mean scores indicate that people with OI generally have a significantly lower QoL than the control population. Further qualitative evaluation of QoL and its influences is important for future management. © 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
    Type of Medium: Online Resource
    ISSN: 2473-4039 , 2473-4039
    URL: Issue
    URL: Article
    DOI: 10.1002/jbm4.v4.12
    DOI: 10.1002/jbm4.10416
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2905710-3
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  • 3
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    Fatigue in adults with Osteogenesis Imperfecta
    Springer Science and Business Media LLC ; 2020
    In:  BMC Musculoskeletal Disorders Vol. 21, No. 1 ( 2020-12)
    Details
    In: BMC Musculoskeletal Disorders, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2020-12)
    Abstract: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. Methods The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America ( n  = 20) and the Netherlands ( n  = 113). Results Ninety-nine patients (OI type 1 ( n  = 72), OI type 3 ( n  = 13), OI type 4 ( n  = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. Conclusion Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.
    Type of Medium: Online Resource
    ISSN: 1471-2474
    URL: Article
    DOI: 10.1186/s12891-019-3000-7
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2041355-5
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  • 4
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    Bleeding assessment in 195 patients with osteogenesis imperfecta
    Bioscientifica ; 2022
    In:  Endocrine Abstracts ( 2022-05-07)
    Details
    In: Endocrine Abstracts, Bioscientifica, ( 2022-05-07)
    Type of Medium: Online Resource
    ISSN: 1479-6848
    URL: Article
    DOI: 10.1530/endoabs.81.P46
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2022
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  • 5
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    Short-term results of total shoulder arthroplasty for ochronotic arthritis
    Oxford University Press (OUP) ; 2019
    In:  Journal of Surgical Case Reports Vol. 2019, No. 7 ( 2019-07-01)
    Details
    In: Journal of Surgical Case Reports, Oxford University Press (OUP), Vol. 2019, No. 7 ( 2019-07-01)
    Abstract: Alkaptonuria is a rare inherited autosomal recessive disorder resulting in large joint osteoarthritis with black discoloration of the cartilage. The glenohumeral is the third most affected joint. Two cases of ochronotic shoulder arthropathy with three shoulder joint replacements are presented. Stemless shoulder arthroplasty was implanted with moderate to good results up to 2 years follow-up regarding pain and range of motion.
    Type of Medium: Online Resource
    ISSN: 2042-8812
    URL: Article
    DOI: 10.1093/jscr/rjz219
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2019
    detail.hit.zdb_id: 2580919-2
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  • 6
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    Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals
    Wiley ; 2019
    In:  British Journal of Haematology Vol. 187, No. 4 ( 2019-11), p. 509-517
    Details
    In: British Journal of Haematology, Wiley, Vol. 187, No. 4 ( 2019-11), p. 509-517
    Abstract: Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures. Other symptoms, such as easy bruising and bleeding complications during surgery necessitating transfusions, have also been reported. The aim of the cross‐sectional pilot study was to assess the bleeding and bruising tendency in OI patients and to screen for possible underlying haematological disorders. Bleeding tendency was investigated using the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH‐BAT) in 22 adult OI patients. Laboratory testing was performed to investigate for bleeding disorders or abnormal coagulation. Four patients [OI type 1( n  = 3), OI type 4( n  = 1)] had a bleeding score (BS) fitting with a bleeding tendency, but without test results pointing to a coagulopathy. Two patients [OI type 1( n = 1), OI type 3 ( n = 1)] without a bleeding tendency according to the BS had increased fibrinolysis. This is the second largest study to date addressing bleeding tendency in OI and the first study to use ISTH‐BAT and elaborate laboratory testing for coagulopathies. Four patients had an increased bleeding tendency. However, laboratory testing demonstrated no bleeding disorder or abnormal coagulation. Increased fibrinolysis was demonstrated in two patients without bleeding tendency on BS. Vascular fragility as a cause of bleeding tendency in OI has been suggested earlier. Further research on bleeding tendency in OI is important.
    Type of Medium: Online Resource
    ISSN: 0007-1048 , 1365-2141
    URL: Issue
    URL: Article
    DOI: 10.1111/bjh.v187.4
    DOI: 10.1111/bjh.16097
    RVK:
    XA 34100
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 1475751-5
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  • 7
    Online Resource
    Online Resource
    Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
    Elsevier BV ; 2020
    In:  The American Journal of Human Genetics Vol. 107, No. 5 ( 2020-11), p. 989-999
    Details
    In: The American Journal of Human Genetics, Elsevier BV, Vol. 107, No. 5 ( 2020-11), p. 989-999
    Type of Medium: Online Resource
    ISSN: 0002-9297
    URL: Article
    DOI: 10.1016/j.ajhg.2020.09.009
    RVK:
    XA 10000
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 1473813-2
    SSG: 12
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  • 8
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    A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams
    Medical Journals Sweden AB ; 2021
    In:  Acta Orthopaedica Vol. 92, No. 5 ( 2021-09-03), p. 608-614
    Details
    In: Acta Orthopaedica, Medical Journals Sweden AB, Vol. 92, No. 5 ( 2021-09-03), p. 608-614
    Type of Medium: Online Resource
    ISSN: 1745-3674 , 1745-3682
    URL: Article
    DOI: 10.1080/17453674.2021.1941628
    RVK:
    XA 12700
    Language: English
    Publisher: Medical Journals Sweden AB
    Publication Date: 2021
    detail.hit.zdb_id: 2187223-5
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  • 9
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    Impact of digital interdisciplinary consultation on secondary care referrals by general practitioners: a protocol for a stepped-wedge cluster randomised controlled trial
    BMJ ; 2022
    In:  BMJ Open Vol. 12, No. 12 ( 2022-12), p. e060222-
    Details
    In: BMJ Open, BMJ, Vol. 12, No. 12 ( 2022-12), p. e060222-
    Abstract: Optimal collaboration between general practice and hospital care is crucial to maintain affordable and sustainable access to healthcare for the entire population. General practitioners (GPs) are the gatekeepers to specialist care and patients will visit hospitals mostly only after referral. However, a substantial part of these referrals may be inappropriate, as communication between GPs and medical specialists can be challenging and referring patients may be the most obvious action for a GP to perform. A new digital platform (Prisma) connects GPs and specialists in interdisciplinary groups and facilitates asynchronous, accessible and fast teleconsultation within the group. No previous research has been done to evaluate the impact of this new platform on the referral rates to the hospital. Methods and analysis A stepped-wedge randomised controlled trial (RCT) will be performed in Zwolle region in the Netherlands to analyse the effect of introduction of the platform on rate of inappropriate referrals to orthopaedic surgery. In four steps, GPs in the region will be given access to the platform. GPs will be part of the control condition until randomisation to the intervention. According to our sample size calculation, we need to include 18 practices with 1008 patients presenting with hip and knee symptoms. Routine care data of hospital registrations will be analysed to calculate the rate of inappropriate referrals (primary outcome). Secondary outcome are costs, primary and secondary care workload, posted cases and user satisfaction. Alongside this quantitative analysis, we will evaluate patient experience, facilitators and barriers for use of the platform. Ethics and dissemination The medical ethics review board of University Medical Center Groningen (UMCG), the Netherlands (METc-number: 2021/288) has confirmed that the Medical Research Involving Human Subjects Act (WMO) does not apply to the process evaluation because the study does not involve randomisation of patients or different medical treatments (letter number: M21.275351). Trial registration number NL9704.
    Type of Medium: Online Resource
    ISSN: 2044-6055 , 2044-6055
    URL: Article
    URL: Article
    DOI: 10.1136/bmjopen-2021-060222
    DOI: 10.1136/bmjopen-2021-060222.supp1
    Language: English
    Publisher: BMJ
    Publication Date: 2022
    detail.hit.zdb_id: 2599832-8
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  • 10
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    Pyridinium Cross‐Links in Bone of Patients with Osteogenesis Imperfecta: Evidence of a Normal Intrafibrillar Collagen Packing
    Wiley ; 2000
    In:  Journal of Bone and Mineral Research Vol. 15, No. 7 ( 2000-07), p. 1330-1336
    Details
    In: Journal of Bone and Mineral Research, Wiley, Vol. 15, No. 7 ( 2000-07), p. 1330-1336
    Abstract: The brittleness of bone in patients with osteogenesis imperfecta (OI) has been attributed to an aberrant collagen network. However, the role of collagen in the loss of tissue integrity has not been well established. To gain an insight into the biochemistry and structure of the collagen network, the cross‐links hydroxylysylpyridinoline (HP) and lysylpyridinoline (LP) and the level of triple helical hydroxylysine (Hyl) were determined in bone of OI patients (types I, III, and IV) as well as controls. The amount of triple helical Hyl was increased in all patients. LP levels in OI were not significantly different; in contrast, the amount of HP (and as a consequence the HP/LP ratio and the total pyridinoline level) was significantly increased. There was no relationship between the sum of pyridinolines and the amount of triple helical Hyl, indicating that lysyl hydroxylation of the triple helix and the telopeptides are under separate control. Cross‐linking is the result of a specific three‐dimensional arrangement of collagens within the fibril; only molecules that are correctly aligned are able to form cross‐links. Inasmuch as the total amount of pyridinoline cross‐links in OI bone is similar to control bone, the packing geometry of intrafibrillar collagen molecules is not disturbed in OI. Consequently, the brittleness of bone is not caused by a disorganized intrafibrillar collagen packing and/or loss of cross‐links. This is an unexpected finding, because mutant collagen molecules with a random distribution within the fibril are expected to result in disruptions of the alignment of neighboring collagen molecules. Pepsin digestion of OI bone revealed that collagen located at the surface of the fibril had lower cross‐link levels compared with collagen located at the inside of the fibril, indicating that mutant molecules are not distributed randomly within the fibril but are located preferentially at the surface of the fibril.
    Type of Medium: Online Resource
    ISSN: 0884-0431 , 1523-4681
    URL: Article
    DOI: 10.1359/jbmr.2000.15.7.1330
    RVK:
    XA 52230
    Language: English
    Publisher: Wiley
    Publication Date: 2000
    detail.hit.zdb_id: 2008867-X
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