The associations of three promoter polymorphisms in the tumor necrosis factor (TNFA) gene have been studied in 238 patients and 324 control subjects. A significant correlation was found between MS susceptibility and the TNFA-376 polymorphism. This association was independent of the human leukocyte antigen (HLA) class II association and the combined inheritance of HLA-DRB1*1501 and the TNFA-376A allele more than additively increased susceptibility to MS.
Objective
To determine whether major histocompatibility complex class I chain–related gene A (MICA) polymorphisms are associated with susceptibility to rheumatoid arthritis (RA) independently of the HLA–DRB1 shared epitope (SE).
Methods
Fifty‐four Spanish families with an affected son or daughter and 211 consecutive RA patients were genotyped for HLA–DRB1, tumor necrosis factor a/b microsatellite alleles, and MICA transmembrane polymorphism. We performed a case–control comparison with the consecutive patients and an independent transmission disequilibrium test with the families.
Results
The frequency of the MICA 6.0 allele was significantly reduced, compared with controls, in the group of SE+ patients (odds ratio 0.39, P = 0.0005). Additionally, the haplotypes containing this allele were preferentially not transmitted to the affected offspring (9 transmitted of 33; P = 0.007), independent of the presence or absence of an SE either in the same haplotype or in the other haplotype in the progenitor.
Conclusion
These data suggest that the MICA 6.0 allele is an independent marker of protection against RA in the SE+ group of RA patients.
S U M M A R YBackground: Chronic kidney disease (CKD) has a severe impact on patients' health-related quality of life (HRQL). The start of renal replacement therapy (RRT) significantly influences psychological, physical and social aspects of life. Objectives: To analyse the HRQL and psychological status (anxiety and depression) at the start of RRT. Methods: We undertook an observational descriptive cross-sectional study. A total of 152 patients starting RRT were recruited for the study. HRQL was measured by the Kidney Disease and Quality of Life Short Form questionnaire. Levels of anxiety and depression were assessed by the Hospital Anxiety and Depression Scale questionnaire. Comorbidities and sociodemographic and clinical factors were also evaluated. Findings: HRQL in patients with end-stage kidney disease (ESKD) is significantly affected by the initiation of RRT in all respects. States of anxiety and depression were present in 26.6% and 27% of patients, respectively. These states are significantly related to the emotional component of the quality of life. Conclusion: The initiation of RRT has a strong impact on HRQL in comparison with a reference population and with other stages of CKD. The early detection of an altered psychological state is important, as this condition should be treated from the first stages of the disease, as it can significantly affect the subsequent development of RRT and the patient's quality of life.
This study was designed as a reappraisal of the association between the TNF-376A promoter polymorphism and susceptibility to multiple sclerosis found in the Spanish population but not in other populations. With a new dataset of patients (n = 241) and control subjects (n = 288), the association was confirmed (p = 0.018). The authors' data suggest that this association is specific of the Spanish white (or related) population or, alternatively, that only studies in their population have the adequate statistical power because of the higher frequency of an extended, conserved haplotype carrying the TNF-376A allele.
SUMMARY
Background
Survival for patients commencing renal replacement therapy is around 90% in the first year and 83% at two years after starting dialysis. The factors that appear to predict mortality are comorbidity and frailty associated with kidney disease, glomerular filtration rate, age and biochemical factors.
Objectives
To analyse the condition of patients starting renal replacement therapy, based on biomarkers commonly used in clinical practice and their association with mortality, measured 6 and 12 months after initiating replacement therapy.
Methods
A one‐year prospective follow‐up study with 189 patients. Sociodemographic variables, aetiology of renal disease, comorbidities, prior nephrology service monitoring, prior renal transplantation and biochemical parameters at the time of initiating replacement therapy were analysed.
Results
The overall percentage of death during the one‐year follow‐up was 6.87%, with 64% of deaths occurring during the first six months. The only variable independently associated with mortality was low albumin levels.
Conclusion
Although most patients in this centre are monitored by a nephrologist prior to starting replacement therapy, many nevertheless fail to achieve the biochemical targets recommended. One such parameter is albumin, which proved at the start of replacement therapy to be an independent predictor of mortality. Findings of this study show the need to intervene on certain biochemical parameters during the pre‐dialysis stage and at the start of dialysis, in order to improve survival in this group of patients.
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