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J Jiménez-Alonso

Publications and source records attributed to J Jiménez-Alonso.

At least 19 recordsLinked to original sources
PubMed2006

No primary association of MICA polymorphism with systemic lupus erythematosus.

OBJECTIVE: To replicate the described association between MHC class I chain-related A (MICA) gene polymorphism and susceptibility to systemic lupus erythematosus (SLE). METHODS: MICA transmembrane microsatellite polymorphism was genotyped using a polymerase chain reaction (PCR)-based method. Genotyping of HLA-B* and DRB1* was performed using PCR and detection with a reverse sequence-specific oligonucleotide (SSO) probe system. Combined data for these three loci (HLA-B*, DRB1* and MICA) were obtained from a total of 333 patients and 361 healthy controls. RESULTS: Significant association with B*08 [P < 10(-7), odds ratio (OR) 3.17, 95% confidence interval (CI) 2.02-5.00], DRB1*0301 (P < 10(-7), OR 2.07, 95% CI 1.59-2.68) and MICA5.1 (P = 0.01, OR 1.23, 95% CI 1.04-1.46) was observed. The combinations DRB1*0301-MICA5.1-B8 and HLA-DRB1*0301-B*08-positive and MICA5-1-negative were more frequent among SLE patients (11.4 vs 3.3% in healthy controls, P = 3.9 x 10(-5), OR 3.76, 95% CI 1.85-7.73, and 6.9 vs 1.7%, P = 0.0007, OR 4.32, 95% CI 1.68-13.10, respectively). Additionally, individuals who were HLA-DRB1*0301-B*08-negative and MICA5-1-positive were less frequent among patients (22.2 vs 31.3% in healthy controls, P = 0.007, OR 0.63, 95% CI 0.44-0.89) and the magnitude of the OR was similar to that obtained in individuals negative for all the three factors (OR 0.69, 95% CI 050-0.94). Further analysis performed to detect independent association strongly suggested that the association between MICA5.1 and SLE is secondary to the linkage disequilibrium of this allele with B*08. CONCLUSIONS: Our results do not support an independent association of MICA gene polymorphism with susceptibility to SLE.

Adolescent↗
PubMed2006

Study of a functional polymorphism in the p53 gene in systemic lupus erythematosus: lack of replication in a Spanish population.

The aim of this study was to assess the possible association between the p53 suppressor gene codon 72 polymorphism and systemic lupus erythematosus (SLE). Our study population consisted of 513 SLE patients and 567 healthy controls. All the individuals were of Spanish Caucasian origin. Genotyping of the p53 codon 72 polymorphism was performed by allele-specific PCR. No statistically significant differences were observed between SLE patients and healthy controls when p53 codon 72 genotype and allele frequencies were compared. In addition, no evidence for association with clinical subfeatures of SLE was found. In conclusion, the p53 codon 72 polymorphism associated with SLE in a Korean population does not appear to play a major role in the susceptibility or severity of SLE in the Spanish population.

Adult↗
PubMed2006

Stress as a predictor of cognitive functioning in lupus.

The objective of this study was to investigate the possible effects of the daily stress experienced during a six-month period on the cognitive functioning of patients with systemic lupus erythematosus (SLE). For this purpose, we evaluated the daily stress of 21 patients with lupus every day for six months. Later, we carried out a neuropsychological exam that included an evaluation of attention and memory. At the same time, scores on depression and anxiety were recorded with the objective of controlling other emotional variables that might be influencing these cognitive processes. The results show that daily stress was able to predict the scores on the neuropsychological variables studied. Specifically, the daily stress experienced in the previous six months is the variable with the greatest explanatory-predictive power on the scores for delayed recall visual memory, visual fluency and attention speed. This relationship proved to be negative in all three cases (R2 corr = 0.290; t = -2.712, P < 0.014); (R2 corr = 0.318; t = -2.818, P < 0.012); (R2 corr = 0.319; t = -2.906, P < 0.009), which means that the greater the daily stress, the lower the score on visual memory, fluency and total attention speed. We can state that daily stress is related to impairments in visual memory, fluency and attention in patients with SLE. This effect was not found with other emotional variables, such as depression and anxiety.

Adult↗
PubMed2005

Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus.

BACKGROUND: Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO4) genes have been shown to be associated with several autoimmune diseases. OBJECTIVE: To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that common genetic bases are shared by autoimmune disorders. METHODS: 597 SLE patients and 987 healthy controls of white Spanish origin were studied. Two additional cohorts of 228 SLE patients from Sweden and 122 SLE patients from Colombia were included. A case-control association study was carried out with six single nucleotide polymorphisms (SNP) spanning the SLC22A4 gene, one SNP in RUNX1 gene, and one additional SNP in SUM04 gene. RESULTS: No significant differences were observed between SLE patients and healthy controls when comparing the distribution of the genotypes or alleles of any of the SLC22A4, RUNX1, or SUMO4 polymorphisms tested. Significant differences were found in the distribution of the SUMO4 genotypes and alleles among SLE patients with and without nephritis, but after multiple testing correction, the significance of the association was lost. The association of SUMO4 with nephritis could not be verified in two independent SLE cohorts from Sweden and Colombia. CONCLUSIONS: These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.

Adult↗
PubMed2005

Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus.

OBJECTIVE: The aim of this study was to assess the possible association between the interleukin-12B (IL12B) and interleukin-12 receptor beta 1 (IL12RB1) gene polymorphisms with systemic lupus erythematosus (SLE). In addition, we have undertaken a systematic search for genetic variants of interleukin 23 (IL23A). METHODS: The study was conducted on 559 SLE patients and 603 ethnically matched healthy controls. Genotyping of the IL12B [IL12Bpro and IL12B 3' untranslated region (UTR)] and IL12RB1 (641A-->G, 1094T-->C and 1132G-->C) polymorphisms was performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-fluorescent methods, whereas IL23A genetic variants were realized with direct sequencing. RESULTS: No statistically significant differences in the distribution of the IL12B and the IL12RB1 genotypes and alleles were observed when comparing SLE patients and control subjects. Additionally, no differences in the genotype and allele distribution were found when SLE patients were stratified according to the presence or absence of lupus nephritis. Despite an extensive analysis in 30 individuals, variations located in the exons and in the 5' and 3' UTR regions of IL23A gene were not found in any case. CONCLUSIONS: These results suggest that polymorphisms located in IL12B, IL12RB1 and IL23A genes may not play a relevant role in the susceptibility or severity of SLE in the Spanish population.

Adult↗
PubMed2005

Analysis of the functional NFKB1 promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus.

Nuclear factor (NF)-kappaB plays an important role in inflammatory diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). A functional insertion/deletion polymorphism (-94ins/delATTG) has been identified in the promoter of the NFKB1 gene. In addition, a polymorphic dinucleotide repeat (CA) has been identified in proximity to the coding region of the human NFKB1 gene. The aim of the present study was to investigate the influence of both the -94ins/delATTG and the (CA) microsatellite NFKB1 polymorphisms in the susceptibility/severity of RA and SLE. We analyzed the distribution of -94ins/delATTG and the multiallelic (CA)(n) repeat in 272 RA patients, 181 SLE patients, and 264 healthy controls from Southern Spain, in both cases using a polymerase chain reaction-fluorescent method. No statistically significant difference in the distribution of the -94delATTG NFKB1 genotypes and alleles between RA patients, SLE patients, and control subjects was observed. Similarly, we found no statistically significant differences in the (CA)(n) microsatellite allele frequency between controls and RA patients or SLE patients. In addition, no association was found between the above mentioned NFKB1 polymorphisms with any of the demographic and clinical parameters tested either in RA or in SLE patients. From these results, it seems that the -94ins/delATTG and the (CA)(n) repeat of NFKB1 gene may not play a relevant role in RA and/or SLE in our population.

Adult↗
PubMed2005

Two cases of catastrophic antiphospholipid syndrome.

Catastrophic antiphospholipid syndrome (CAPS) is a rare complication of antiphospholipid syndrome. It is a disseminated severe vascular pathology which presents with multi-organic dysfunction that progresses rapidly. Prognosis ends up being fatal in half of the cases. It may appear during pregnancy, surgery, infection, or after suspension of anticoagulation therapy. We studied two female patients with CAPS who survived after treatment with anticoagulation therapy and intravenous corticosteroids. The evolution of our two patients, after 17 months of follow-up under oral anticoagulant treatment was favourable and they are currently asymptomatic. In these patients the early diagnosis and treatment were essential to enhance their possibilities of survival.

Adult↗
PubMed2004

Polymorphisms of toll-like receptor 2 and 4 genes in rheumatoid arthritis and systemic lupus erythematosus.

Human toll-like receptors (TLRs) participate in the innate response and signal the activation of adaptive immunity. Therefore, these TLRs may be important in autoimmune diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). We investigated, by using a polymerase chain reaction restriction-fragment length polymorphism method, the possible association between the polymorphisms of TLR2 (Arg677Trp and Arg753Gln) and TLR4 (Asp299Gly and Thr399Ile) genes with the susceptibility or severity of RA and SLE. Our study population consisted of 122 patients with SLE, 224 patients with RA, and a control group of 199 healthy individuals. The TLR2 polymorphisms were very rare in our population; no individual carrying the TLR2-Arg677Trp polymorphism was observed, whereas the TLR2-Arg753Gln polymorphism was present in only 1% of the total population. We found no statistically significant differences in the TLR4-Asp299Gly and the TLR4-Thr399Ile genotype or allele distribution between SLE patients, RA patients, and control individuals. Similarly, no association was found with any of the demographic and clinical parameters tested either in RA or in SLE patients. In conclusion, a case-control study was used to analyze, for the first time, the influence of TLR2 and TLR4 gene polymorphism on the predisposition and clinical characteristics of SLE and RA but provided no evidence for association of TLR2 or TLR4 gene polymorphism with either disease in the population under study.

Adult↗
PubMed2004

Urinary tract infections and lupus erythematosus.

BACKGROUND: Infections are one of the main causes of morbidity and mortality in patients with systemic lupus erythematosus. OBJECTIVE: To analyse urinary tract infection (UTI) risk factors in lupus patients; the influence of these factors on disease activity, organ damage, and disease development; the type and prevalence of UTI; and the micro-organisms involved. METHOD: 86 control subjects and 81 lupus patients were studied prospectively over a 12 month period and examined on five occasions. Epidemiological data and information on urinary symptoms, disease activity (SLEDAI), and organ damage (SLICC/ACR) data were collected. Autoantibodies, complement levels, urine culture, and antibiogram were determined; urological studies were also carried out. SPPS 10.0 and STATA 6.0. were used for statistical analysis. RESULTS: The prevalence of UTI in lupus patients was 36%. Lupus influences the onset of UTI (p = 0.001), regardless of other variables. UTI risk factors in lupus patients were age (p = 0.002), previous cases of UTI (p = 0.0001), antinuclear antibodies (ANA) >1/80 IU/ml (p = 0.022), thrombocytopenia (p = 0.02), and admission to hospital due to UTI (p = 0.002). Leucopenia (p = 0.09) and the weekly administration of methotrexate (p = 0.06) had a bearing on the onset of UTI; disease development (p = 0.99), lupus activity (p = 0.32), and organ damage (p = 0.36) do not. The uropathogen most frequently isolated was E coli (60%). CONCLUSIONS: Lupus patients are likely to have UTI, usually manifesting in the lower tract. They are community acquired, basically caused by E coli, and favoured by age, previous UTI, admissions to hospital due to UTI, thrombopenia, ANA, leucopenia, and methotrexate treatments.

Adult↗
PubMed2004

[Intolerance to hydroxychloroquine marketed in Spain (Dolquine) in patients with autoimmune conditions].

BASIS: A significant proportion of our patients has described to have problems from tolerance to Dolquine, a new presentation of hydroxychloroquine recently marketed in Spain, compared to Plaquenil. The objective was to know the tolerability and the adverse effects of this new presentation. PATIENTS AND METHOD: A cross-sectional multicenter study on 133 patients treated with Dolquine was conducted. RESULTS: Of the 133 patients (87% women; average age [AA]: 32.9 [15.4] years) who received Dolquine during an average period of 6.7 (1.4) months, 32 patients (24%) described to have more problems with this drug in comparison with other antimalarial. The adverse effects experienced were: bitter taste (62.4%), difficulty in swallowing the tablet (13.5%), dyspepsia (9.8%), nausea (7.5%), vomiting (1.5%), pruritus (1.5%), diarrhea (0.7%), and instability feeling (0.7%). The presence of gastrointestinal adverse effects was not related to the consumption of gastroerosive drugs, gastric protectors, or a high number of drugs. The attrition rate was 9.8%. Conclusions. Dolquine induces lower tolerance and more gastrointestinal adverse effects than Plaquenil, pointing out its bitter taste and the difficulty in swallowing it. Despite this higher intolerance there was not an increase in the attition rate from the antimalarial treatment in comparison to other series.

Adult↗
PubMed2004

Systemic lupus erythematosus in southern Spain: a comparative clinical and genetic study between Caucasian and Gypsy patients.

We evaluated the influence of the hereditary make-up on the development of systemic lupus erythematosus (SLE) in two ethnic groups [Gypsy and white Caucasian Mediterranean (WCM) populations], living in the same geographic area. We compared 81 WCM and 25 Gypsy patients with SLE. The control group consisted of 185 healthy unrelated individuals, 105 WC and 80 Gypsies. In the Gypsy population, the onset of SLE occurred at earlier ages than in the other ethnic group (25.9 versus 32.0 years, P = 0.02), and showed lower SLEDAI peak values (4.9 versus 7.0, P = 0.016). The frequency of joint, kidney, gastrointestinal and eye involvement was significantly lower in Gypsy patients. In contrast, SLE-associated antiphospholipid syndrome, thrombosis and livedo reticularis were more frequent in Gypsies than in the majority ethnic group (WCM). In WCM patients, DRB1* 1303-DQB1*0301 haplotype was associated with SLE (P = 0.001, Pc = 0.038). We found SLE to be associated with DR5 (P = 0.006, Pc = 0.05) in the Gypsy population as well as a protective effect of DPB1*0401 when DR5 was not present (P = 0.008, Pc = 0.032). In conclusion, we found some clinical differences between WCM and Gypsy patients with SLE. Furthermore, HLA associations between HLA-DRB1-DQB1 and SLE were different for Gypsy people.

Adult↗