| 1. |
- van Schaarenburg, Rosanne A., et al.
(författare)
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Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency
- 2015
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Ingår i: Journal of Autoimmunity. - : Elsevier BV. - 0896-8411 .- 1095-9157. ; 62, s. 39-44
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease.Methods: We performed an international survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published.Results: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis. Of these patients 36 (80%) suffer from SLE, of which 16 suffer from SLE and infections, 5 (11%) suffer from infections only and 4 (9%) have no symptoms. In total 9 (20%) of the C1q deficient individuals had died. All except for one died before the age of 20 years. Estimated survival times suggest 20% case-fatality before the age of 20, and at least 50% of patients are expected to reach their middle ages.Conclusion: Here we report the largest phenotypic data set on C1q deficiency to date, revealing high variance; with high mortality but also a subset of patients with an excellent prognosis. Management of C1q deficiency requires a personalized approach.
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| 2. |
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Barnreumatologi
- 2008. - 1
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)
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| 3. |
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| 4. |
- Broström, Eva, et al.
(författare)
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Trunk and center of mass movements during gait in children with juvenile idiopathic arthritis
- 2007
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Ingår i: Human Movement Science. - : Elsevier BV. - 0167-9457 .- 1872-7646. ; 26:2, s. 296-305
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Tidskriftsartikel (refereegranskat)abstract
- Motion of the body center of mass (CoM) can often indicate the overall effect of the strategy of forward progression used. In the present study, focus is placed on trunk movements in the sagittal, coronal, and transverse/rotation plane, as well as placement of the CoM, during gait in children with juvenile idiopathic arthritis (JIA). Seventeen children with JIA, all with polyarticular lower extremity involvement were examined before and approximately two weeks after treatment with intra-articular cortico-steroid injections. Movement was recorded with a 6-camera 3D motion analysis system in both the children with JIA and in 21 healthy controls. Trunk and center of mass movements were compared between JIA and controls, and effects of intra-articular cortico-steroid treatment were evaluated. Children with JIA were more posteriorly tilted in the trunk, contrary to the common clinical impression, and had their CoM placed more posterior and off-centred, which may have been a result of pain. With such knowledge, it might be possible to better understand the effects of their pain and involvement, and ultimately to plan a treatment strategy for improving their gait patterns.
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| 5. |
- Calissendorff, Per, 1989-, et al.
(författare)
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Updated orbital monitoring and dynamical masses for nearby M-dwarf binaries
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 666
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Tidskriftsartikel (refereegranskat)abstract
- Young M-type binaries are particularly useful for precise isochronal dating by taking advantage of their extended pre-main sequence evolution. Orbital monitoring of these low-mass objects becomes essential in constraining their fundamental properties, as dynamical masses can be extracted from their Keplerian motion. Here, we present the combined efforts of the AstraLux Large Multiplicity Survey, together with a filler sub-programme from the SpHere INfrared Exoplanet (SHINE) project and previously unpublished data from the FastCam lucky imaging camera at the Nordical Optical Telescope (NOT) and the NaCo instrument at the Very Large Telescope (VLT). Building on previous work, we use archival and new astrometric data to constrain orbital parameters for 20 M-type binaries. We identify that eight of the binaries have strong Bayesian probabilities and belong to known young moving groups (YMGs). We provide a first attempt at constraining orbital parameters for 14 of the binaries in our sample, with the remaining six having previously fitted orbits for which we provide additional astrometric data and updated Gaia parallaxes. The substantial orbital information built up here for four of the binaries allows for direct comparison between individual dynamical masses and theoretical masses from stellar evolutionary model isochrones, with an additional three binary systems with tentative individual dynamical mass estimates likely to be improved in the near future. We attained an overall agreement between the dynamical masses and the theoretical masses from the isochrones based on the assumed YMG age of the respective binary pair. The two systems with the best orbital constrains for which we obtained individual dynamical masses, J0728 and J2317, display higher dynamical masses than predicted by evolutionary models.
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| 7. |
- Horne, A., et al.
(författare)
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Efficacy of Moderately Dosed Etoposide in Macrophage Activation Syndrome-Hemophagocytic Lymphohistiocytosis
- 2021
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Ingår i: Journal of Rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 48:10, s. 1596-1602
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Tidskriftsartikel (refereegranskat)abstract
- Objective. Macrophage activation syndrome (MAS) constitutes 1 subtype of the hyperinflammatory syndrome hemophagocytic lymphohistiocytosis (HLH), and the term MAS-HLH was recently proposed for HLH with underlying autoimmune/autoinflammatory conditions. The mortality of MAS-HLH has been estimated at 5-10%. Here we report our experiences with moderately dosed etoposide in severe MAS-HLH; the objective was to effectively reduce severe hyperinflammatory activity with limited side effects. Methods. In addition to conventional antiinflammatory treatment, moderately dosed etoposide was administered to 7 children affected by rapidly progressing MAS-HLH with central nervous system (n = 5) and/ or pulmonary (n = 5) involvement. Three had underlying systemic juvenile idiopathic arthritis (sJIA), 2 had atypical sJIA (no arthritis at diagnosis), and 2 had systemic lupus erythematosus. We performed lymphocyte cytotoxicity analyses in all 7 and genetic analyses in 6. Results. All children promptly responded to moderately dosed etoposide (50-100 mg/m(2Y) once weekly), added to conventional MAS-HLH treatment that was considered insufficient. The mean accumulated etoposide dose was 671 mg/m(2) (range 300-1050 mg/m(2)) as compared to 1500 mg/m(2) recommended in the first 8 weeks of the HLH-94/HLH-2004 protocols. One child developed neutropenic fever and another neutropenic sepsis (neutrophils 0.3 x 10(9)/L at therapy onset). Five of 7 children had low percentages (< 5%) of circulating natural killer (NK) cells prior to or in association with diagnosis; NK cell activity was pathologically low in 2 of 5 children studied. Disease-causing variants in HLH-associated genes were not found. All children were alive at latest follow-up (2-9 yrs after onset); neurological symptoms had normalized in 4 of 5 affected children. Conclusion. Moderately dosed etoposide may be beneficial in severe and/or refractory MAS-HLH.
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| 8. |
- Iversen, Maura D., et al.
(författare)
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Self-rated walking disability and dynamic ankle joint stiffness in children and adolescents with Juvenile Idiopathic Arthritis receiving intraarticular corticosteroid joint injections of the foot
- 2019
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Ingår i: Gait & Posture. - : ELSEVIER IRELAND LTD. - 0966-6362 .- 1879-2219. ; 67, s. 257-261
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Tidskriftsartikel (refereegranskat)abstract
- Background: Children and adolescents with Juvenile Idiopathic Arthritis (JIA) exhibit deviations in ankle dynamic joint stiffness (DJS, or moment-angle relationship) compared to healthy peers, but the relationship between ankle DJS and self-reported walking impairments has not been studied. This secondary analysis aimed to investigate the relationship between ankle DJS and self-reported walking disability in juveniles with JIA, and to determine whether intraarticular corticosteroid foot injections (IACI) were associated with long term changes in ankle DJS. Research questions: Is ankle DJS altered in children with JIA reporting walking difficulties compared to children with JIA reporting no walking difficulties? Are IACIs associated with persistent alterations in ankle DJS? Methods: Gait dynamics (DJS), foot pain, and foot-related disability were assessed in 33 children with JIA before intraarticular corticoid foot injection (IACI), and three months after IACI. Using self-reported walking capacity scores, children were classified as either having no walking difficulties (ND) or having walking difficulties (WD). Inferential statistics were used to compare demographics, pain, impairment scores, and ankle DJS between the groups. Results: Before treatment, in the WD group, ankle DJS was significantly decreased both in the early rising phase (ERP = 0.03 +/- 0.02 vs. 0.05 +/- 0.02 Nm(kg*deg)(-1)) and late rising phase (LRP = 0.11 +0.06 vs. 0.24+0.22 Nm (kg*deg)(-1)) compared to the ND group. At three months, the ERP was still significantly decreased in the WD group (ERP = 0.03 +/- 0.01 vs. 0.05+0.03 Nm(kg*deg)(-1)). Significance: Among children and adolescents with JIA who reported walking difficulties prior to IACIs, alterations in DJS in early stance phase (decreased ERP) remained three months after IACI suggesting persistent gait adaptations, possibly related to pain. Pre-treatment gait analysis may aid in identifying children who will not have long term benefit from IACIs in terms of improved gait, and therefore, may be informed and have the choice to be spared the risk of side effects associated with this treatment.
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