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Biomedical subjects

J A Riancho

Publications and source records attributed to J A Riancho.

At least 19 recordsLinked to original sources
PubMed2007

Klotho gene polymorphism and male bone mass.

The Klotho gene codes for a protein that is thought to influence the homeostasis of several tissues, including bone, as well as the aging process. Although the mechanism of action has not been fully elucidated, some studies in women have associated Klotho allelic variants to bone mineral density (BMD). The objective of this study was to determine the relationship of a common T/G polymorphism, resulting in a phenylalanine (F) to valine (V) substitution, with male bone mass. BMD was measured by dual-energy X-ray absorptiometry in 362 Spanish men aged 19-83 years. Klotho alleles were determined by a Taqman assay. Allele frequencies were 85% and 15% for the F and V alleles, respectively. In comparison with the most common FF genotype, young and middle-aged men (age less than 53 years) with FV/VV genotypes had higher age- and body mass index-adjusted BMD at the lumbar spine (1.059 +/- 0.017 vs. 1.016 +/- 0.011 g/cm(2), P = 0.036), the hip (1.077 +/- 0.017 vs. 1.033 +/- 0.011 g/cm(2), P = 0.028), and the calcaneus (0.599 +/- 0.125 vs. 0.547 +/- 0.108 g/cm(2), P = 0.012). Klotho alleles explained about 2-4% of BMD variance. However, Klotho genotype was not associated to BMD in older men. There were no Klotho-related differences in height, body weight, calcium intake, tobacco or alcohol consumption, or serum testosterone levels. In conclusion, these results suggest that allelic variants of Klotho constitute one of the genetic factors influencing BMD in male adults.

Adult↗
PubMed2006

MTHFR polymorphism and bone mineral density: meta-analysis of published studies.

The C677T (rs1801133) polymorphism of methylenetetrahydrofolate reductase (MTHFR) has been associated with bone status in some studies, but the results have been mixed. In order to have a better understanding of this issue, we performed a meta-analysis of studies about the association of the C677T polymorphism and bone mineral density (BMD). Eight studies analyzed the relationship with spine BMD. When their results were combined, individuals with TT genotype showed a small but significantly reduced BMD compared to those with TC and CC genotypes. The weighted mean difference (WMD) was 18.0 mg/cm2 (P = 0.001, 95% confidence interval [CI] 7.1-28.9), without statistical evidence for between-study heterogeneity (P = 0.28, I2 = 17%). Six studies analyzed femoral neck BMD. A test for heterogeneity was significant (P = 0.03, I2 = 56%). Individuals with TT alleles tended to have somewhat lower BMD, but the difference was not statistically significant. In random effects model, the WMD between the TT and TC/CC genotypes was 6.4 mg/cm2 (95% CI -7.8 to 21.2, P = 0.36). Total hip BMD was measured in four studies. They showed a significantly lower BMD in subjects with TT alleles: WMD 19.7 (95% CI 5.3-34.1) mg/cm2, P = 0.007, in comparison with TC/CC subjects. When we considered only studies on women, the WMD in BMD between TT and TC/CC genotypes was significant at the spine (22.1 mg/cm2, 95% CI 8.6-35.6; P = 0.001) and the femoral neck (15.5 mg/cm2, 95% CI 4.3-26.7; P = 0.007). There was no evidence for heterogeneity. The small number of studies did not allow a meaningful sex-stratified analysis of total hip BMD or a separate analysis of male data. In conclusion, the C677T polymorphism of the MTHFR gene is associated with small differences in BMD, at least in women.

Bone Density↗
PubMed2005

Mutation rates at Y chromosome specific microsatellites.

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 x 10(-3) (95% CI, 1.501 x 10(-3) to 2.606 x 10(-3)). With just one exception, all of the mutations were single-step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc.

Age Factors↗
PubMed2005

Bone mass in young adults: relationship with gender, weight and genetic factors.

OBJECTIVES: To determine the relationship of the bone mass attained in young adults with anthropometric and genetic factors. DESIGN: Cross-sectional study of normal individuals. METHODS: We studied 341 healthy subjects between 22 and 45 years of age. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA) and correlated with body weight, height and nine polymorphisms in six genes involved in sex steroid metabolism (17-hydroxylase, aromatase and 5-reductase) and activity (oestrogen receptors (ER)-alpha and -beta, and androgen receptor). RESULTS: The BMD was higher in men than in women (spine: 1.048 +/- 0.120 vs. 1.034 +/- 0.112; hip: 0.907 +/- 0.131 vs. 0.822 +/- 0.104 g cm(-2), P < 0.001). However, the difference was due, at least in part, to the larger body size in men and diminished markedly after height adjustment. There was a negative correlation between age and hip BMD. Body weight was the single most influential factor on spine and hip BMD in both sexes, explaining 8-9% of BMD variance. Amongst the genetic factors studied, a common CA repeat polymorphism in ER-beta showed a significant association with BMD in women (P = 0.03 at the spine, and 0.008 at the hip). The relationship between ER-beta genotype and BMD persisted after adjustment by body weight and age, explaining a further 2-3% of BMD variance. Allelic variants of other genes studied were not related with BMD. CONCLUSIONS: Body weight and allelic variants of ER-beta are associated with BMD in young adults.

Absorptiometry, Photon↗
PubMed2003

Involuntary weight loss without specific symptoms: a clinical prediction score for malignant neoplasm.

BACKGROUND: Involuntary weight loss (IWL) is a non-specific symptom frequently found in the setting of a malignant neoplasm. There is no established diagnostic approach for patients presenting with isolated IWL, i.e. without data suggesting a particular organ involvement or system disorder. AIM: To assess the clinical probability of cancer in patients with isolated IWL by means of a score based on simple clinical and laboratory parameters. DESIGN: Retrospective analysis, followed by prospective model validation. METHODS: We analysed data from 328 patients who were treated at our Internal Medicine Department because of isolated IWL from January 1991 to December 1997. A predictive model for cancer was developed and validated. For use in clinical practice, a prediction score was derived from the regression model. RESULTS: There were 236 in-patients (72%) and 92 out-patients (28%). Malignancies were the most frequent cause of isolated IWL (35%), followed by psychiatric disorders (24%). Age, white blood count, and serum albumin, alkaline phosphatase, and lactate dehydrogenase levels were selected as the best predictors. The regression model discriminated relatively well between patients with or without a malignant neoplasm (area under the ROC curve 0.90, 95%CI 0.88-0.92). Model sensitivity was 69%, specificity 93% and positive likelihood ratio 9.9 (using a cut-off point of 0.5). DISCUSSION: We believe this to be the first study to attempt a systematic approach to the diagnosis of isolated IWL. The approach, based on very simple clinical and laboratory data, should assist the physician in a rational approach to such patients.

Adolescent↗
PubMed2003

[Risk factors and stroke among patients of different ages].

OBJECTIVE: To determine the frequency of cardiovascular risk factors in patients of different ages with ischemic cerebrovascular accident.Patients and methods. Descriptive, retrospective study of 1,077 patients with stroke or transient ischemic attack. RESULTS: Arterial hypertension (49%-67%) and atrial fibrillation (38%-46%) were the most prevalent risk factors in men and women aged over 65 years. Among individuals aged less than 65 years, smoking in men (58%) and arterial hypertension (64%) and hyperlipidemia (36%) in women predominated. Atrial fibrillation was particularly frequent in patients aged over 80 years (46% in men and 52% in women). CONCLUSION: On the basis of the high prevalence of arterial hypertension and atrial fibrillation in these patients, the appropriate management of these conditions should by a priority for the prevention of cerebrovascular diseases, especially in advanced aged patients.

Age Factors↗
PubMed2000

[The efficacy of corticosteroids in exacerbations of chronic obstructive pulmonary disease: meta-analysis of published studies].

BACKGROUND: Corticosteroids are frequently used in exacerbations of chronic obstructive pulmonary disease (COPD), but their efficacy is controversial. We have carried out a systematic review of the literature to clarify this issue. METHODS: We searched Medline, Cochrane Library and Indice Medico Español databases for articles about corticosteroids and COPD. Placebo-controlled studies were selected and reviewed independently by two investigators. RESULTS: We found no studies using inhaled corticosteroids. Six studies analysed the effect of systemic corticosteroids. They showed a significant improvement of FEV1 by three days (weighted mean difference between placebo and treated groups 89 ml; CI 25-153; 4 trials) and by 7-14 days (200 ml; CI 7-393; 3 trials). The duration of hospitalisation was also shorter in patients receiving corticosteroids (p = 0.03). There also was a non-statistically significant trend towards a lower failure rate in treated groups, without differences in mortality rate. At midterm, the differences in FEV1 disappeared. CONCLUSION: Corticosteroid administration by systemic route is associated with a clinically relevant short-term improvement in spyrometric values. Although there are no clear differences in prognostic variables, these data give support to the practice of using these drugs for short periods, not longer than two weeks.

Adrenal Cortex Hormones↗
PubMed2000

[Multiple genetic typing (vitamin D receptors and estrogens) in the assessment of the risk of fractures].

BACKGROUND: Several studies suggested that some vitamin D receptor (VDR) and estrogen receptor (ER) polymorphisms influence bone mass. However, others did not confirm these results. This study was undertaken to determine if the genotypes revealed by the combined analysis of VDR and ER polymorphisms are associated with clinically significant differences in peak bone mass and the risk of osteoporotic fractures. PATIENTS AND METHODS: Restriction fragment length polymorphisms of VDR were determined with the enzymes Bsml, Apal, Taql, and Fokl. Enzymes Xbal and Pvull were used as polymorphic markers of the ER. The study group comprised 149 young control women (18-34 years), 66 postmenopausal controls, 99 women with hip fracture and 76 women with osteoporotic vertebral fractures. Bone mineral density (BMD) was measured by DEXA. RESULTS: We did not find significant differences in lumbar spine or hip BMD among young women with different genotypes (determined with either single or multiple polymorphic markers). Likewise, there were no differences in the frequency distributions of VDR or ER alleles between control and fractured women. The study had a 77% power to detect a fracture odds ratio of 2 in case of genotypes present in at least 15% of the population. CONCLUSIONS: These results suggest that the polymorphic markers used in this study do not have enough discriminant power to be clinically useful in the assessment of fracture risk.

Adult↗
PubMed2000

Expression of opioid receptors in osteoblast-like MG-63 cells, and effects of different opioid agonists on alkaline phosphatase and osteocalcin secretion by these cells.

We have previously shown that several stressful situations associated with tissue injury determine a decrease in serum osteocalcin concentration. Since reduced osteocalcin production is a marker of decreased osteoblastic activity, this finding could be related to the pathogenesis of osteoporosis secondary to some diseases. Endogenous opioids are involved in stress response. Proenkephalin-derived peptides have been shown to inhibit alkaline phosphatase activity, another marker of bone formation, in the murine cell line ROS-17/2.8. On the other hand, serum osteocalcin has been reported as being low in heroin abusers. We have therefore thought it of interest to study the presence of opioid receptors in the human osteoblast-like cell line MG-63, and to evaluate the effects of different opioid agonists on the secretion of alkaline phosphatase and osteocalcin by these cells. The presence of opioid receptors was studied by means of RT-PCR and immunohistochemistry. RT-PCR studies suggested the presence of specific mRNA for the three types of receptors, and immunohistochemistry clearly showed their occurrence. Osteocalcin synthesis was significantly inhibited by high concentrations of the mu agonists morphine and (D-Ala(2), N-MePhe(4),Gly(5)-ol)-enkephalin although no changes were seen with the delta agonist (D-Ala(2),D-leu(5))-enkephalin. Morphine-induced osteocalcin inhibition was abolished when osteoblastic cells were incubated simultaneously with naloxone, whereas it was potentiated when cells were preincubated with naloxone. None of the opioid agonists modified the secretion of alkaline phosphatase. In conclusion, human osteoblast-like cells MG-63 express the three types of opioid receptors. Endogenous opioids may be involved in the reduction of osteocalcin observed in stressful situations associated with tissue injury.

Alkaline Phosphatase↗
PubMed1999

Diagnostic approach to patients with suspected pulmonary embolism: a report from the real world.

This study was carried out to examine the diagnostic approach to patients with suspected pulmonary embolism (PE) in a university hospital. A retrospective case record review of 251 patients with suspected pulmonary embolism was carried out according to a standard protocol, which looked at the utilisation of imaging techniques and compared clinical diagnoses with a standardised diagnosis established according to current recommendations. Isotopic lung scan was the most commonly used technique (73%), followed by leg vein sonography (36%) and contrast venography (31%). Lung arteriography was done in only 7% of patients. Among the 205 patients with a clinical diagnosis of PE, 115 (56%) would be diagnosed as having PE according to the standard criteria, 84 (41%) would be unclassified, and six (3%) would not be regarded as having PE. Among patients who were diagnosed as having PE and received anticoagulant therapy, 32% did not have the diagnosis confirmed by an imaging technique. Most of these had a non-diagnostic lung scan which, despite evidence to the contrary, seemed to be interpreted as confirmation of PE. We conclude that clinicians do not seem to follow current recommendations when approaching patients with suspected PE. In particular, there is an over-reliance on lung scans, and the significance of non-diagnostic scans was often misinterpreted. Arteriography was underused. These results emphasise the need to take measures to implement practice guidelines and to explore the usefulness of newer non-invasive techniques.

Anticoagulants↗
PubMed1999

Etidronate inhibits the production of IL-6 by osteoblast-like cells.

IL-6 is a resorbing cytokine synthesized by osteoblasts and monocytes that has been implicated in the pathogenesis of osteoporosis. Bisphosphonates are well-known antiresorptive drugs, the antiosteoclastic effect of which has been recently suggested to be brought about at least in part through osteoblasts. Based on these facts, we have studied the effect of etidronate on the production of IL-6 by two tumoral cell lines of human osteoblastic phenotype (MG63 and SaOs cells), and by peripheral blood mononuclear cells (PBMC). For comparison, another antiresorptive drug, estradiol, was included in the study. MG63 cells were stimulated with LPS and IL-1 beta, SaOs cells with LPS, IL-1 beta and PMA, and PBMC with LPS and PMA. Etidronate was tested at 10(-7), 10(-6), 10(-5), and 10(-4) M, and 17beta-estradiol was tested at 10(-10), 10(-9), 10(-8), and 10(-7) M. IL-6 was determined in supernatants by an ELISA. No significant effect of either etidronate or estradiol on IL-6 secretion by LPS or PMA-stimulated PBMC was found. However, in osteoblastic-like cells, an inhibition of IL-6 production by etidronate in LPS-stimulated cultures was found. At the highest concentrations tested, IL-6 production values were 58 +/- 9% and 53 +/- 8% of those at base line for MG63 and SaOs cells, respectively. Estradiol did not modify IL-6 secretion under any condition. In conclusion, our study supports the contention that the antiresorptive effect of bisphosphonates may be due in part to a decrease in IL-6 production by osteoblasts.

Cells, Cultured↗
PubMed1999

[Number of patients to be treated and number of prevented fractures: clinical efficiency of osteoporosis treatment with diphosphonate alendronate].

OBJECTIVE: To evaluate the benefit of osteoporosis therapy with alendronate, estimating the number of patients necessary to treat to prevent a fracture (NNT) and the number of prevented fractures (NPF) by treating 100 patients. METHOD: Analysis of different clinical scenarios from estimations of the incidence of osteoporotic fractures in western countries and the decrease in the relative risk of fracture obtained in recent clinical trials. Consideration was given to the influence of the possible post-therapy residual effects, life expectancy and functional impact of fractures. RESULTS: Results varied largely depending on the fracture risk of patients. Under the model assumptions, the NNT for hip fractures ranged from 7 (for women aged 80 with a bone mineral density [BMD] with Z < -2) to 333 (for women aged 50 with Z values ranging from 0 and -1). Thus, therapy of 100 women aged 80 years with a Z value < -2 for three years would prevent 14 hip fractures, 33 vertebral fractures and 8 wrist fractures. Therapy of 100 women aged 50-55 years with a Z value ranging from 0 to -1 would prevent 1 hip fracture, 2 vertebral fractures and 2 wrist fractures. CONCLUSION: The proposed model allows for estimating the expected benefit for the different types of patients and underscores the relevance of concentrating therapeutic efforts in the groups of patients with the highest risk. On the other hand, it suggests that the obtained benefit when treating elderly female patients with low BMD is higher than that obtained with therapy during the years following menopause.

Age Factors↗
PubMed1998

[Agreement in the clinical diagnosis of pulmonary embolism].

BACKGROUND: The diagnosis of pulmonary embolism (PE) may be a difficult task. The diagnostic performance of imaging techniques is limited and pre-test probability of PE, estimated from basic clinical data, must be taken into consideration to interpret their results. The aim of this study was to evaluate the accuracy and agreement of clinicians in estimating PE probability. PATIENTS AND METHODS: We reviewed the charts of 116 patients admitted to hospital for suspected PE. Basic clinical data (symptoms and signs, arterial blood gases, chest X-ray and EKG) were extracted and given to five clinicians, who were asked to estimate the probability of PE. We determined the inter-clinician agreement and compared their estimates with the final diagnoses. RESULTS: Among patients with a final diagnosis of PE, clinical estimations of PE probability were: high in 63%, intermediate in 21%, and low in 16%. The accuracy of estimates varied between 67 and 80%. Actual PE prevalence was 81% among cases estimated as having high probability and 42% in those considered as low probability. The global inter-clinician agreement rates ranged from 56 to 72%, whereas the average kappa coefficient was 0.44. CONCLUSION: Basic clinical data seem to be more useful to predict PE than to exclude it. The accuracy and agreement between estimates from different clinicians are only moderate.

Humans↗