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  • Ayas, Mouhab, et al. (författare)
  • Second Allogeneic Hematopoietic Cell Transplantation for Patients with Fanconi Anemia and Bone Marrow Failure.
  • 2015
  • Ingår i: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation. - 1523-6536 .- 1083-8791. ; 21:10
  • Tidskriftsartikel (refereegranskat)abstract
    • A second allogeneic hematopoietic cell transplantation (HCT) is the sole salvage option for individuals who develop graft failure after their first HCT. Data on outcomes after second HCT in patients with Fanconi anemia (FA) are scarce. Here we report outcomes after second allogeneic HCT for FA (n = 81). The indication for second HCT was graft failure after the first HCT. Transplantations were performed between 1990 and 2012. The timing of the second HCT predicted subsequent graft failure and survival. Graft failure was high when the second HCT was performed less than 3 months from the first. The 3-month probability of graft failure was 69% when the interval between the first HCT and second HCT was less than 3 months, compared with 23% when the interval was longer (P < .001). Consequently, the 1-year survival rate was substantially lower when the interval between the first and second HCTs was less than 3 months compared with longer (23% vs 58%; P = .001). The corresponding 5-year probability of survival was 16% and 45%, respectively (P = .006). Taken together, these data suggest that fewer than one-half of patients with FA undergoing a second HCT for graft failure are long-term survivors. There is an urgent need to develop strategies to reduce the rate of graft failure after first HCT.
  • Ahlin, Anders, et al. (författare)
  • Chronic granulomatous disease - haematopoietic stem cell transplantation versus conventional treatment.
  • 2013
  • Ingår i: Acta paediatrica (Oslo, Norway : 1992). - 1651-2227. ; 102:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic granulomatous disease (CGD) is a rare X-linked or autosomal recessive primary immune deficiency characterized by recurrent, life-threatening bacterial and fungal infections. Mortality rates are high with conventional treatment. However, haematopoietic stem cell transplantation (HSCT) offers cure. Here, we compare the outcome of HSCT in 14 Swedish patients with CGD to that in 27 patients with CGD who were given conventional treatment.
  • Esbjornsson, A-C, et al. (författare)
  • Ankle arthritis predicts polyarticular disease course and unfavourable outcome in children with juvenile idiopathic arthritis
  • 2015
  • Ingår i: Clinical and Experimental Rheumatology. - 0392-856X .- 1593-098X. ; 33:5, s. 751-757
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective To evaluate the occurrence, clinical characteristics and prognostic factors associated with ankle arthritis in children with juvenile idiopathic arthritis (JIA). Methods 440 children with JIA were followed for eight years in a prospective Nordic population-based cohort study. Data on remission was available for 427 of these children. Occurrence of clinically assessed ankle arthritis was analysed in relation to JIA category, clinical characteristics and remission data eight years after disease onset. Results In 440 children with JIA, 251 (57%) experienced ankle arthritis during the first eight years of disease. Ankle arthritis was least common in the persistent oligoarticular category (25%) and most common in children with extended oligoarticular (83%) and polyarticular RF-negative (85%) JIA. Children who developed ankle arthritis during the first year of disease were younger at disease onset (median age 4.9 (IQR 2.1-8.8) vs. 6.6 (IQR 2.8-10.1) years, p<0.003) and had more cumulative affected joints at 8-year follow-up (median involved joints 10 (IQR 6-16) vs. 3 (IQR 2-9), p<0.001). The odds ratio for not achieving remission eight years after disease onset, if the ankle joint was involved during the first year of disease was 2.0 (95 %.0, p<0.001). Hind-, mid- and forefoot involvements were more common compared to patients without ankle arthritis. Conclusion In this Nordic population-based 8-year follow-up study, occurrence of ankle arthritis during the first year was associated with an unfavourable disease outcome. We suggest that ankle arthritis should be recognised in the assessment of prognosis and choice of treatment strategy in JIA.
  • Sällfors, Christina, et al. (författare)
  • Well-being in children with juvenile chronic arthritis
  • 2004
  • Ingår i: Clinical and Experimental Rheumatology. - Pisa : Pacini. - 0392-856X .- 1593-098X. ; 22:1, s. 125-130
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: The aim of this study was to describe a model for predicting well-being in children with juvenile chronic arthritis (JCA). METHODS: 125 children (43 boys) (median age 14.1 yrs; range 10.3-17.8) rated disability and discomfort (Childhood Health Assessment Questionnaire). Pain control, pain reduction and fatigue were evaluated (visual analogue scales). In addition, variation of pain intensity was rated by a pain intensity scale. Analysis by the stepwise regression technique was used to explain the variability in well-being. Eight independent variables were included as possible predictors in the model (p < 0.1). RESULTS: The analyses indicated that well-being in children with JCA is related to three clusters of variables; pain "as it normally is", number of pain-free days and attending physical education classes. The analysis explained a substantial portion of the total variance in the children's well-being (55.1%). CONCLUSION: Pain is a robust predictor of well-being in children with JCA. This supports the concept of the benefits of reducing chronic joint pain as a major goal in caring of these children.
  • Wekell, Per, et al. (författare)
  • An overview of how on-call consultant paediatricians can recognise and manage severe primary immunodeficiencies.
  • 2019
  • Ingår i: Acta paediatrica. - 1651-2227. ; 108:12, s. 2175-2185
  • Tidskriftsartikel (refereegranskat)abstract
    • Severe primary paediatric immunodeficiency syndromes are rare and potentially fatal unless suspected, diagnosed and treated early. We provide clinical guidance and support for on-call consultant paediatricians working in secondary level hospitals on how to recognise and manage children with these conditions. Our paper addresses four conditions that risk the most severe outcomes if they are not adequately cared for during on-call periods, such as weekends: severe combined immunodeficiency, haemophagocytic lymphohistiocytosis, severe congenital neutropaenia and chronic granulomatous disease. CONCLUSION: On-call paediatricians are provided with advice on handling the most severe primary immunodeficiencies.
  • Alberdi-Saugstrup, M, et al. (författare)
  • Non-HLA gene polymorphisms in juvenile idiopathic arthritis: associations with disease outcome.
  • 2017
  • Ingår i: Scandinavian journal of rheumatology. - : TAYLOR & FRANCIS LTD. - 1502-7732 .- 0300-9742. ; , s. 1-8
  • Tidskriftsartikel (refereegranskat)abstract
    • To test the hypothesis that non-HLA single-nucleotide polymorphisms (SNPs) associated with the risk of juvenile idiopathic arthritis (JIA) are risk factors for an unfavourable disease outcome at long-term follow-up.The Nordic JIA cohort is a prospective multicentre study cohort of patients from the Nordic countries. In all, 193 patients met the inclusion criteria of having an 8 year follow-up assessment and available DNA sample. Seventeen SNPs met the inclusion criteria of having significant associations with JIA in at least two previous independent study cohorts. Clinical endpoints were disease remission, actively inflamed joints and joints with limitation of motion (LOM), articular or extra-articular damage, and history of uveitis.Evidence of associations between genotypes and endpoints were found for STAT4, ADAD1-IL2-IL21, PTPN2, and VTCN1 (p = 0.003-0.05). STAT4_rs7574865 TT was associated with the presence of actively inflamed joints [odds ratio (OR) 20.6, 95% confidence interval (CI) 2.2-> 100, p = 0.003] and extra-articular damage (OR 7.9, 95% CI 1-56.6, p = 0.057). ADAD1_rs17388568 AA was associated with a lower risk of having joints with LOM (OR 0.1, 95% CI 0-0.55, p = 0.016). PTPN2_rs1893217 CC was associated with a lower risk of having joints with LOM (OR 0.2, 95% CI 0-0.99, p = 0.026), while VTCN1_rs2358820 GA was associated with uveitis (OR 3.5, 95% CI 1-12.1, p = 0.029).This exploratory study, using a prospectively followed JIA cohort, found significant associations between long-term outcome and SNPs, all previously associated with development of JIA and involved in immune regulation and signal transduction in immune cells.
  • Askelöf, Ulrica, et al. (författare)
  • Wait a minute? An observational cohort study comparing iron stores in healthy Swedish infants at 4 months of age after 10-, 60- and 180-second umbilical cord clamping.
  • 2017
  • Ingår i: BMJ open. - 2044-6055. ; 7:12
  • Tidskriftsartikel (refereegranskat)abstract
    • Umbilical cord blood (UCB) is a valuable stem cell source used for transplantation. Immediate umbilical cord (UC) clamping is widely practised, but delayed UC clamping is increasingly advocated to reduce possible infant anaemia. The aim of this study was to investigate an intermediate UC clamping time point and to evaluate iron status at the age of 4 months in infants who had the UC clamped after 60 s and compare the results with immediate and late UC clamping.Prospective observational study with two historical controls.A university hospital in Stockholm, Sweden, and a county hospital in Halland, Sweden.Iron status was assessed at 4 months in 200 prospectively recruited term infants whose UC was clamped 60 s after birth. The newborn baby was held below the uterine level for the first 30 s before placing the infant on the mother's abdomen for additional 30 s. The results were compared with data from a previously conducted randomised controlled trial including infants subjected to UC clamping at ≤10 s (n=200) or ≥180 s (n=200) after delivery.After adjustment for age differences at the time of follow-up, serum ferritin concentrations were 77, 103 and 114 µg/L in the 10, 60 and 180 s groups, respectively. The adjusted ferritin concentration was significantly higher in the 60 s group compared with the 10 s group (P=0.002), while the difference between the 60 and 180 s groups was not significant (P=0.29).In this study of healthy term infants, 60 s UC clamping with 30 s lowering of the baby below the uterine level resulted in higher serum ferritin concentrations at 4 months compared with 10 s UC clamping. The results suggest that delaying the UC clamping for 60 s reduces the risk for iron deficiency.NCT01245296.
  • Ayas, Mouhab, et al. (författare)
  • Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia.
  • 2013
  • Ingår i: Journal of Clinical Oncology. - 0732-183X .- 1527-7755. ; 31:13, s. 1669-76
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE Allogeneic hematopoietic cell transplantation (HCT) can cure bone marrow failure in patients with Fanconi anemia (FA). Data on outcomes in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome (MDS), or acute leukemia have not been separately analyzed. PATIENTS AND METHODS We analyzed data on 113 patients with FA with cytogenetic abnormalities (n = 54), MDS (n = 45), or acute leukemia (n = 14) who were reported to the Center for International Blood and Marrow Transplant Research from 1985 to 2007. Results Neutrophil recovery occurred in 78% and 85% of patients at days 28 and 100, respectively. Day 100 cumulative incidences of acute graft-versus-host disease grades B to D and C to D were 26% (95% CI, 19% to 35%) and 12% (95% CI, 7% to 19%), respectively. Survival probabilities at 1, 3, and 5 years were 64% (95% CI, 55% to 73%), 58% (95% CI, 48% to 67%), and 55% (95% CI, 45% to 64%), respectively. In univariate analysis, younger age was associated with superior 5-year survival (≤ v > 14 years: 69% [95% CI, 57% to 80%] v 39% [95% CI, 26% to 53%], respectively; P = .001). In transplantations from HLA-matched related donors (n = 82), younger patients (≤ v > 14 years: 78% [95% CI, 64% to 90%] v 34% [95% CI, 20% to 50%], respectively; P < .001) and patients with cytogenetic abnormalities only versus MDS/acute leukemia (67% [95% CI, 52% to 81%] v 43% [95% CI, 27% to 59%], respectively; P = .03) had superior 5-year survival. CONCLUSION Our analysis indicates that long-term survival for patients with FA with cytogenetic abnormalities, MDS, or acute leukemia is achievable. Younger patients and recipients of HLA-matched related donor transplantations who have cytogenetic abnormalities only have the best survival.
  • Berntson, L., et al. (författare)
  • HLA-B27 predicts a more extended disease with increasing age at onset in boys with juvenile idiopathic arthritis
  • 2008
  • Ingår i: British Journal of Rheumatology. - 0263-7103 .- 1460-2172 .- 0315-162X .- 1499-2752. - 0315-162X (Print) 0315-162X (Linking) ; 35:10, s. 2055-2061
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a heterogeneous condition with very few clinical and laboratory signs that can help predict the course and severity of the disease in the individual patient. The cell-surface antigen HLA-B27 is well known to be associated with spondyloarthropathies, reactive arthritis, and enthesitis. HLA-B27 plays an important role in the classification of JIA, since evidence of sacroiliitis most often evolves after years of arthritis in other joints. We investigated the associations of HLA-B27 and the clinical manifestations of JIA using a method as close to a population-based study as possible.METHODS: We studied an incidence-based cohort of 305 patients collected prospectively in 3 Nordic countries (Sweden, Norway, Denmark). Clinical and serological data of the first 3 years of the disease were collected.RESULTS: HLA-B27 was found to be positive in 25.5% of the patients, and we found a higher proportion of HLA-B27-positive boys with older age at disease onset (p=0.034). Regression analysis showed a correlation of 0.7 in the HLA-B27-positive boys, pointing to a higher risk of more joint involvement with older age at disease onset. By Fisher's exact test, involvement of small joints in the lower extremities was associated with HLA-B27 in boys (p=0.011), but not in girls (p=0.687). HLA-B27 was associated with inflammatory back pain in both sexes (p=0.041 in boys, p=0.042 in girls), but with enthesitis only in boys (p<0.001 in boys, p=0.708 in girls).CONCLUSION: HLA-B27 is of increasing importance with older age at disease onset in boys with JIA, predicting more active joints within the first 3 years of disease, and also involving small joints in the lower extremity to a greater degree than in HLA-B27-negative boys. During the first 3 years of disease the occurrence of HLA-B27 is associated with inflammatory back pain in both sexes, but with enthesitis only in boys. Our data present new challenges for the ILAR classification of JIA.
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