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- Landtblom, Anne-Marie, 1953-, et al.
(författare)
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A case report of plasmapheresis treatment in a patient with paraneoplastic cerebellar degeneration and high anti-Yo antibody titers
- 2008
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Ingår i: Therapeutic Apheresis and Dialysis. - : Wiley. - 1744-9979 .- 1744-9987. ; 12:1, s. 82-85
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Tidskriftsartikel (refereegranskat)abstract
- A patient with paraneoplastic cerebellar degeneration due to anti-Purkinje cell antibodies (anti-Yo) arising from ovarian carcinoma with metastases was treated with three plasmapheresis (PP) series (a total of 22 PP treatments) over one year and was monitored by repeated otoneurological testing, balance tests and clinical investigations. Blood samples for antibody titers were checked on several occasions. Initially there was a weak clinical response and significantly improved test results regarding the caloric response, as well as a possible effect on visual suppression of the vestibulo-ocular reflex after caloric ear irrigation. After the first series of PP treatment, new metastases were found. A half year later there was a progressive course with increasing general symptoms. Serology tests showed continuously high titers of anti-Yo antibody, although somewhat lower after PP. We thus report a minor and short-lived effect of PP, possibly inhibited by the natural course of metastatic disease. © 2008 International Society for Apheresis.
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| 8. |
- Norda, Rut, et al.
(författare)
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Recognition of Intercenter Differences May Help Develop Best Practice
- 2008
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Ingår i: Therapeutic Apheresis and Dialysis. - : Wiley. - 1744-9979. ; 12:5, s. 347-54
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Tidskriftsartikel (refereegranskat)abstract
- The Swedish Apheresis Registry is a National Quality Registry and performing intercenter comparisons can be done as one task. The purpose of this study was to evaluate differences in adverse effects (AE) associated with plasma exchange (PE) for the development of best practice. Six hundred and twenty reports of AE related to a total of 12 461 apheresis procedures performed during 1996-2002 were analyzed, and eight Swedish university hospital centers that reported AE every year were compared. About 70% of all PE in Sweden were performed in centers that also reported AE. During this period, there was no change in the proportion of PE procedures with AE, but there was a decrease in the frequency of prematurely interrupted procedures (2.1% to 1.3%, P=0.003). The mean frequency of moderate and severe AE was 5%. Adverse effects were more common when PE was performed in patients with Guillain-Barrel syndrome (GBS; 10%) or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS; 8%) than in patients with macroglobulinemia/hyperviscosity syndromes (2%). In the eight centers, there was a four-fold difference in AE between the centers with the highest and the lowest frequency. The frequency of AE in GBS, TTP-HUS and macroglobulinemia/hyperviscosity syndromes differed four-fold, while the frequency of specified symptoms differed more than four-fold. The indications and the choice of substitution fluids could explain some of these differences. The results of the study have initiated changes in practice. The identification of significant intercenter differences in the frequency and symptoms of AE has started improvement in current PE practices.
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| 11. |
- Åkesson, Alexander, et al.
(författare)
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Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome : a Swedish retrospective observational study
- 2021
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Ingår i: Therapeutic Apheresis and Dialysis. - : Wiley. - 1744-9979 .- 1744-9987. ; 25:6, s. 988-1000
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Complement-mediated atypical hemolytic uremic syndrome (aHUS) is an ultra-rare renal disease primarily caused by genetic alterations in complement proteins. The genetic work-up required for confirmation of diagnosis is complicated and not always logistically accessible. The aim of the present study was to apply a diagnostic scheme compliant with the ACMG guidelines to investigate the prevalence of complement-mediated aHUS among subjects formerly included in a retrospective cohort of clinically suspected aHUS. Clinical outcomes and genetic correlations to complement analyses were assessed.METHODS: Subjects were investigated with medical record reviewing, inquiries and laboratory analyses composed of whole genome sequencing; ELISA for factor I, factor H and factor H-specific antibodies; nephelometry for complement components 3/4; flow cytometry for CD46 surface expression and immunoblotting for the presence of factor H-related protein 1.RESULTS: In total, 45% (n=60/134) of the subjects were deceased at the time of study. Twenty of the eligible subjects consented to study participation. Based on genetic sequencing and clinical characteristics, six were categorized as definite/highly suspected complement-mediated aHUS, ten as non-complement-mediated aHUS and four as having an HUS-like phenotype. In the complement-mediated aHUS group, two subjects had not received an aHUS diagnosis during the routine clinical management. Disease-contributing/likely disease-contributing genetic variants were identified in five subjects, including a novel missense variant in the complement factor H gene (c.3450A>G,p.I1150M).CONCLUSION: The study illustrates the risk for misdiagnosis in the management of patients with complement-mediated aHUS and the importance of a comprehensive assessment of both phenotype and genotype to reach a diagnosis. This article is protected by copyright. All rights reserved.
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| 12. |
- De Lisle, Stephen P.
(författare)
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Peak shifts and extinction under sex-specific selection
- 2021
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Ingår i: Biology letters. - : The Royal Society. - 1744-9561 .- 1744-957X. ; 17:10
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Tidskriftsartikel (refereegranskat)abstract
- A well-known property of sexual selection combined with a cross-sex genetic correlation (rmf) is that it can facilitate a peak shift on the adaptive landscape. How do these diversifying effects of sexual selection + rmf balance with the constraints imposed by such sexual antagonism, to affect the macroevolution of sexual dimorphism? Here, I extend existing quantitative genetic models of evolution on complex adaptive landscapes. Beyond recovering classical predictions for the conditions promoting a peak shift, I show that when rmf is moderate to strong, relatively weak sexual selection is required to induce a peak shift in males only. Increasing the strength of sexual selection leads to a sexually concordant peak shift, suggesting that macroevolutionary rates of sexual dimorphism may be largely decoupled from the strength of within-population sexual selection. Accounting explicitly for demography further reveals that sex-specific peak shifts may be more likely to be successful than concordant shifts in the face of extinction, especially when natural selection is strong. An overarching conclusion is that macroevolutionary patterns of sexual dimorphism are unlikely to be readily explained by within-population estimates of selection or constraint alone.
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| 13. |
- Norda, Rut, et al.
(författare)
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Recognition of inter-center differences may help develop best practice : Analysis of data from the Swedish Apheresis Registry
- 2008
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Ingår i: Therapeutic apheresis and dialysis. - : Wiley. - 1744-9979. ; 12:5, s. 347-354
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Tidskriftsartikel (refereegranskat)abstract
- The Swedish Apheresis Registry is a National Quality Registry and performing intercenter comparisons can be done as one task. The purpose of this study was to evaluate differences in adverse effects (AE) associated with plasma exchange (PE) for the development of best practice. Six hundred and twenty reports of AE related to a total of 12 461 apheresis procedures performed during 1996-2002 were analyzed, and eight Swedish university hospital centers that reported AE every year were compared. About 70% of all PE in Sweden were performed in centers that also reported AE. During this period, there was no change in the proportion of PE procedures with AE, but there was a decrease in the frequency of prematurely interrupted procedures (2.1% to 1.3%, P=0.003). The mean frequency of moderate and severe AE was 5%. Adverse effects were more common when PE was performed in patients with Guillain-Barrel syndrome (GBS; 10%) or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS; 8%) than in patients with macroglobulinemia/hyperviscosity syndromes (2%). In the eight centers, there was a four-fold difference in AE between the centers with the highest and the lowest frequency. The frequency of AE in GBS, TTP-HUS and macroglobulinemia/hyperviscosity syndromes differed four-fold, while the frequency of specified symptoms differed more than four-fold. The indications and the choice of substitution fluids could explain some of these differences. The results of the study have initiated changes in practice. The identification of significant intercenter differences in the frequency and symptoms of AE has started improvement in current PE practices.
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| 14. |
- Åkesson, Alexander, et al.
(författare)
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At the Cross Section of Thrombotic Microangiopathy and Atypical Hemolytic Uremic Syndrome : A Narrative Review of Differential Diagnostics and a Problematization of Nomenclature
- 2017
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Ingår i: Therapeutic Apheresis and Dialysis. - : Wiley. - 1744-9979. ; 21:4, s. 304-319
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Forskningsöversikt (refereegranskat)abstract
- Complement-mediated atypical hemolytic uremic syndrome (aHUS) is a rare disease associated with high mortality and morbidity. Renal biopsies often indicate thrombotic microangiopathy (TMA). The condition is caused by an excessive activation of the alternative pathway leading to depositions of membrane attack complexes (MAC) on host cells. It may depend on mutations in complement components and regulatory proteins, or the formation of complement-specific antibodies. Mainly, an environmental trigger (e.g. infection) is needed for the excessive response to develop. The clinical characteristics are more or less shared with a wide range of diseases manifesting with microangiopathic hemolytic anemia. Because of prior deficits in pathogenic understanding, associated nomenclature has been based on clinical symptoms. New knowledge challenges these symptomatic definitions; however, an outdated terminology is still being applied in clinical practice to various extents. With respect to gained insights, it is more advantageous to rebuild the concepts on etiological and pathogenic grounds. The need for more distinct definitions is even more urgent in the light of the effective treatment regimen with eculizumab for complement-mediated aHUS. This review presents an up-to-date summary of the field of investigation, addresses the need for faster differential diagnostics and proposes a revised nomenclature based on the current pathogenic understanding.
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