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| 2. |
- Beeton, K, et al.
(författare)
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Recent developments in clinimetric instruments
- 2006
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 12:Suppl. 3, s. 102-107
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Tidskriftsartikel (refereegranskat)abstract
- Assessment of impairment and function is essential in order to monitor joint status and evaluate therapeutic interventions in patients with haemophilia. The improvements in the treatment of haemophilia have required the development of more sensitive tools to detect the more minor dysfunctions that may now be apparent. This paper outlines some of the recent developments in this field. The Haemophilia Joint Health Score (HJHS) provides a systematic and robust measure of joint impairment. The MRI Scoring System has been designed to provide a comprehensive scoring system combining both progressive and additive scales. The Functional Independence Score for Haemophilia (FISH) has been developed to assess performance of functional activities and can be used in conjunction with the Haemophilia Activities List (HAL) which provides a self report measure of function. It is recommended that both measures are evaluated as these tools measure different constructs. Further refinement and testing of the psychometric properties of all of these tools is in progress. More widespread use of these tools will enable the sharing of data across the world so promoting best practice and ultimately enhancing patient care.
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| 3. |
- Loth, Daan W, et al.
(författare)
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Genome-wide association analysis identifies six new loci associated with forced vital capacity
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46, s. 669-677
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Tidskriftsartikel (refereegranskat)abstract
- Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
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| 4. |
- Berntorp, Erik, et al.
(författare)
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Consensus perspectives on prophylactic therapy for haemophilia: summary statement.
- 2003
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Ingår i: Haemophilia. - : Wiley. - 1351-8216. ; 9:Suppl 1, s. 41278-41278
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Tidskriftsartikel (refereegranskat)abstract
- Participants in an international conference on prophylactic therapy for severe haemophilia developed a consensus summary of the findings and conclusions of the conference. In the consensus, participants agreed upon revised definitions for primary and secondary prophylaxis and also made recommendations concerning the need for an international system of pharmacovigilance. Considerations on starting prophylaxis, monitoring outcomes, and individualizing treatment regimens were discussed. Several research questions were identified as needing further investigation, including when to start and when to stop prophylaxis, optimal dosing and dose interval, and methods for assessment of long-term treatment effects. Such studies should include carefully defined cohorts, validated orthopaedic and quality-of-life assessment instruments, and cost-benefit analyses.
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| 5. |
- Eckhardt, CL, et al.
(författare)
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Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A
- 2013
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Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 122:11, s. 1954-1962
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Tidskriftsartikel (refereegranskat)abstract
- The inhibitor incidence in nonsevere hemophilia A patients with certain F8 mutations approaches the inhibitor incidence in severe patients. These findings are highly relevant for clinical practice, as they facilitate identification of high-risk patients based on F8 genotype.
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| 7. |
- Graziani, F., et al.
(författare)
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Oral Care and Quality Evaluation: A Multicentric Study on Periodontal Treatment
- 2020
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Ingår i: Oral Health & Preventive Dentistry. - 1602-1622. ; 18:2, s. 363-371
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: No information is available on the perception of the quality of care in patients treated for periodontitis. The purpose of this article was to assess how periodontitis-affected patients perceive the quality of periodontal treatment (PT) and to measure the factors which may influence it. Materials and Methods: 306 subjects who completed PT were invited to participate. Questionnaires and visual analogic scales (VAS) evaluating perception of quality of care, symptoms, and oral health related quality of life (OHRQoL) were handed out. Oral and periodontal indicators were collected before and after treatment. The impact of different factors on perception of quality was assessed with a regression model. Results: Quality evaluation was high yet unrelated for both patients and clinicians (p = 0.983). Quality was negatively influenced by the number of residual oral infections (p < 0.001), patient's age (p = 0.07) and presence of residual pain at completion of PT (p = 0.02). Professionalism, kindness of the staff and communication skills were the characteristics mostly appreciated. The OHRQoL was influenced by the number of residual teeth (p < 0.001), increasing age of patients (p = 0.08), number of residual infections (p < 0.01) and pain (p = 0.04). Conclusions: Patients' quality perception appeared to be influenced by clinical and emotional aspects. Oral care providers should be aware of the impact of non-clinical factors in patients' appreciation of quality of treatment.
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| 9. |
- Manco-Johnson, MJ, et al.
(författare)
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Physical therapy and imaging outcome measures in a haemophilia population treated with factor prophylaxis: current status and future directions
- 2004
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 10, s. 88-93
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Tidskriftsartikel (refereegranskat)abstract
- Routine infusions of factor VIII to prevent bleeding, known as prophylaxis, and other intensive therapies are being more broadly applied to patients with haemophilia. These therapies differ widely in replacement product usage, cost, frequency of venous access and parental effort. In order to address residual issues relating to recommendations, implementation, and evaluations of prophylaxis therapy in persons with haemophila, a multinational working group was formed and called the International Prophylaxis Study Group (IPSG). The group was comprised of haemophilia treaters actively involved in studies of prophylaxis from North America and Europe. Two expert committees, the Physical Therapy (PT) Working Group and the Magnetic Resonance Imaging (MRI) Working Group were organized to critically assess existing tools for assessment of Joint outcome. These two committees independently concluded that the WFH Physical Examination Scale (WFH PE Scale) and the WFH X-ray Scale (WFH XR Scale) were inadequately sensitive to detect early changes in Joints. New scales were developed based on suggested modifications of the existing scales and called the Haemophilia joint Health Score (HJHS) and the International MRI Scales. The new scales were piloted. Concordance was measured by the intra-class correlation coefficient of variation. Reliability of the HJHS was excellent with an inter-observer co-efficient of 0.83 and a test-retest value of 0.89. The MRI study was conducted using both Denver and European scoring approaches; inter-reader reliability using the two approaches was 0.88 and 0.87; test-retest reliability was 0.92 and 0.93. These new PT and MRI scales promise to improve outcome assessment in children on early preventive treatment regimens.
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