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Biomedical subjects

Javier Ortiz

Publications and source records attributed to Javier Ortiz.

6 recordsLinked to original sources

Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study.

BACKGROUND: IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Genetic and environmental factors are suspected to be involved in the development of the disease. Interleukin-10 (IL-10) is a cytokine with stimulatory activity on immunoglobulin production and it may be an important regulator in IgAD pathogenesis. The IL-10 gene contains several single nucleotide polymorphisms (SNPs) and two polymorphic microsatellites located in the 5'-flanking region. Our aim was to ascertain if any of these polymorphic markers are associated or linked to IgAD in Spanish patients. METHODS: We genotyped 278 patients with IgAD and 573 ethnically matched controls for the microsatellites IL-10R and IL-10G and for three single nucleotide polymorphisms at positions -1082, -819 and -592 in the proximal promoter of the gene. We also included in this study the parents of 194 patients in order to study the IL-10 haplotypes transmitted and not transmitted to the affected offspring. RESULTS: The only allele where a significant difference was observed in the comparison between IgA deficiency patients and controls was the IL-10G12 allele (OR = 1.58 and p = 0.021). However, this p value could not withstand a Bonferroni correction. None of the IL-10R or promoter SNP alleles was found at a different frequency when patients were compared with controls. CONCLUSION: Our data do not show any significant difference in IL-10 polymorphism frequencies between control and IgAD patient samples. Their haplotype distribution among patients and controls was also equivalent and therefore these microsatellites and SNPs do not seem to influence IgAD susceptibility.

Case-Control Studies↗

Efficacy of a comprehensive geriatric intervention in older patients hospitalized for hip fracture: a randomized, controlled trial.

OBJECTIVES: To evaluate whether an early multidisciplinary geriatric intervention in elderly patients with hip fracture reduced length of stay, morbidity, and mortality and improved functional evolution. DESIGN: Randomized, controlled intervention trial. SETTING: Orthopedic ward in a university hospital. PARTICIPANTS: Three hundred nineteen patients aged 65 and older hospitalized for hip fracture surgery. INTERVENTION: Participants were randomly assigned to a daily multidisciplinary geriatric intervention (n=155) or usual care (n=164) during hospitalization in the acute phase of hip fracture. MEASUREMENTS: Primary endpoints were in-hospital length of stay and incidence of death or major medical complications. Secondary endpoints were the rate of recovery of previous activities of daily living and ambulation ability at 3, 6, and 12 months. RESULTS: Median length of stay was 16 days in the geriatric intervention group and 18 days in the usual care group (P=.06). Patients assigned to the geriatric intervention showed a lower in-hospital mortality (0.6% vs 5.8%, P=.03) and major medical complications rate (45.2% vs 61.7%, P=.003). After adjustment for confounding variables, geriatric intervention was associated with a 45% lower probability of death or major complications (95% confidence interval=7-68%). More patients in the geriatric intervention group achieved a partial recovery at 3 months (57% vs 44%, P=.03), but there were no differences between the groups at 6 and 12 months. CONCLUSION: Early multidisciplinary daily geriatric care reduces in-hospital mortality and medical complications in elderly patients with hip fracture, but there is not a significant effect on length of hospital stay or long-term functional recovery.

Aged↗

[A new risk score for patients with a normal or non-diagnostic ECG admitted to a chest pain unit].

INTRODUCTION AND OBJECTIVES: Patients admitted to chest pain units are usually classified on the basis of the results of non-invasive tests. However, the large number of potential patients places a strain on limited resources. Our aim was to identify clinical variables that may help determining the risk of coronary artery disease. PATIENTS AND METHOD: We studied 365 consecutive patients admitted to the chest pain unit at our institution, all of whom had an ECG that did not show significant changes in repolarization. RESULTS: The patients' mean age was 62.3 years. Independent predictors of coronary artery disease were: typical chest pain, aspirin use, diabetes, and age >64 years. A risk score obtained by combining these 4 factors was related to the occurrence of a clinical event during the patient's stay in the chest pain unit, to coronary artery disease prevalence (which varied from 3.9% in those with a score of 0 to 66.7% in those with a score of 4), to all-cause mortality, and to the development of acute coronary syndrome during the 6-month follow-up period. CONCLUSIONS: The presence of typical chest pain, aspirin use, diabetes, and an age >64 years is associated with an increased probability of coronary artery disease in patients admitted to chest pain units. A risk score obtained by combining these four factors may be clinically useful and help optimizing resource management.

Age Factors↗

A sliding window-based method to detect selective constraints in protein-coding genes and its application to RNA viruses.

Here we present a new sliding window-based method specially designed to detect selective constraints in specific regions of a multiple protein-coding sequence alignment. In contrast to previous window-based procedures, our method is based on a nonarbitrary statistical approach to find the appropriate codon-window size to test deviations of synonymous (d(S)) and nonsynonymous (d(N)) nucleotide substitutions from the expectation. The probabilities of d(N) and d(S) are obtained from simulated data and used to detect significant deviations of d(N) and d(S) in a specific window region of the real sequence alignment. The nonsynonymous-to-synonymous rate ratio (w = d(N)/d(S)) was used to highlight selective constraints in any window wherein d(S) or d(N) was significantly different from the expectation. In these significant windows, w and its variance [V(w)] were calculated and used to test the neutral hypothesis. Computer simulations showed that the method is accurate even for highly divergent sequences. The main advantages of the new method are that it (i) uses a statistically appropriate window size to detect different selective patterns, (ii) is computationally less intensive than maximum likelihood methods, and (iii) detects saturation of synonymous sites, which can give deviations from neutrality. Hence, it allows the analysis of highly divergent sequences and the test of different alternative hypothesis as well. The application of the method to different human immunodeficiency virus type 1 and to foot-and-mouth disease virus genes confirms the action of positive selection on previously described regions as well as on new regions.

Base Sequence↗

Ultrafiltration and small solute transport at initiation of PD: questioning the paradigm of peritoneal function.

BACKGROUND: Human peritoneal function on commencing peritoneal dialysis (PD) is not yet adequately understood. The objective of this study was to determine peritoneal functional patterns on commencing PD. METHODS: 367 end-stage renal disease (ESRD) patients on PD for the first time were studied between their initial second to sixth weeks on PD. Urea and creatinine mass transfer area coefficients (MTAC) and standardized ultrafiltration (UF) capacity were determined. RESULTS: Mean parametric values were MTAC urea 22.9 +/- 7.04 mL/min, MTAC creatinine 10.31 +/- 4.68 mL/min, and UF 896 +/- 344 mL. Gender, patient size, and diabetes or kidney disease did not affect these parameters. The relationship between values of MTAC creatinine and UF reached statistical significance, although with a low value for Pearson's coefficient (r = -0.30, p = 0.001). Age showed a significant inverse linear correlation with UF capacity (r = -0.15, p = 0.003) and MTAC urea (r = -0.11, p < 0.05). Logistic regression analysis demonstrated that UF below 400 mL was independently related to a high MTAC creatinine and older age. Diabetes was least frequent in patients with the lowest UF. However, in the analysis of MTAC creatinine quintiles, UF values did not follow the expected inverse pattern. The lack of differences in UF between the second and third to fourth MTAC creatinine quintiles is remarkable; MTAC creatinine ranged from 6.71 to 13.54. CONCLUSIONS: The functional characteristics of human peritoneum varied markedly and there was a less intense than expected relationship between solute and water transports. This mild inverse relationship is intriguing and suggestive of the necessity of redefining some basic concepts. Age was associated with a lower peritoneal UF capacity, in part independently of small solute transport.

Adult↗