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Biomedical subjects

I Blanco

Publications and source records attributed to I Blanco.

At least 19 recordsLinked to original sources

Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia.

The current study focuses on updating estimates of the numbers of individuals carrying the two most common deficiency alleles, protease inhibitor (PI)*S and PI*Z, for alpha1-antitrypsin deficiency (AT-D) in 20 Asian countries. A total of 170 cohorts with 31,177 individuals were selected from 20 Asian countries. The total AT-D populations in the countries selected were: 7,264 ZZ; 36,754 SZ; 6,672,479 MZ; 46,492 SS; and 16,881,108 MS. Marked differences among the Asian countries and regions were also found for the prevalence of the deficiency alleles PI*S and PI*Z. These numbers demonstrate that AT-D is not just a genetic disease that affects smaller numbers than various countries, for example, in Europe. There were marked differences between the prevalence of the PI*S and PI*Z deficiency alleles among these 20 Asian countries as well as among the countries within a given geographic region in Asia. The largest numbers of ZZ phenotypes (3,000-14,000) were in Afghanistan, Pakistan, Saudi Arabia and Thailand; with <1,700 in each of the remaining countries.

Alleles↗

[Current status of follow-up of the upper digestive tract in familial adenomatous polyposis].

Familiar adenomatous polyposis (FAP) is a hereditary disease characterized by the development of multiple adenomatous polyps in the gastrointestinal tract and colorectal cancer in practically all patients who do not receive appropriate treatment. Although the most commonly involved region in this disease is the colorectal area, it is well known that adenomas can also develop in the upper gastrointestinal tract, mainly in the periampullary area of the duodenum. Because of the possibility of malignant transformation of these polyps, adequate monitoring is required, even though the optimal follow-up schedule has not yet been defined. In the present article, we report a case of a gastric adenocarcinoma detected during the follow-up of a patient diagnosed with FAP, as well as a review of the literature on this subject. We stress the need for early detection and appropriate management of this disease. Sufficient information is available to support the use of upper gastrointestinal endoscopy with lateral vision and serial biopsies of the periampullary region in these patients. The first endoscopy in patients with FAP should be performed at the age of 20 years or at diagnosis. Subsequently, a follow-up schedule should be designed, according to the number and histological characteristics of the polyps observed.

Adenocarcinoma↗

Bioavailability of carotenoids and tocopherols from broccoli: in vivo and in vitro assessment.

Fruits and vegetables are the major sources of biologically active compounds, and carotenoids and tocopherols constitute important groups in human diets. Bioavailability is a critical feature in the assessment of the role of micronutrients in human health, and the approaches to this issue include in vitro and in vivo methods. Our aim was to evaluate the bioavailability of carotenoids and tocopherols present in broccoli and to compare in vitro and in vivo approaches. Fourteen apparently healthy volunteers consumed 200 g broccoli once a day for seven days. Blood samples were drawn at baseline and after intervention to determine changes in lutein, beta-carotene, and alpha- and gamma-tocopherol as relevant phytochemicals provided with this vegetable. Broccoli also was subjected to simulated gastrointestinal digestion to assess changes related to preabsorptive processes. Analytes in serum and at each phase of the digestion were assayed by high-performance liquid chromatography. During the intervention, the amounts supplied daily ranged from 2.4 to 3.1 mg lutein, 1.4 to 1.8 mg beta-carotene, 4.5 to 6.8 mg alpha-tocopherol, and 0.8 to 1.8 mg gamma-tocopherol. Significant changes in serum in both men and women were observed only for lutein, whereas for gamma-tocopherol a significant change was detected in women. No changes were observed for alpha-tocopherol, beta-carotene, retinol, the alpha-tocopherol-to-cholesterol ratio, or serum lipids. Using the in vitro model, more than 75% of lutein, beta-carotene, gamma-tocopherol, and alpha-tocopherol remained at the duodenal phase, whereas incorporation into the supernatants accounted for <20% of the initial content in food. Regular consumption of broccoli at dietary levels increased serum concentrations of lutein and gamma-tocopherol without affecting alpha-tocopherol or beta-carotene status in serum. The behavior of these phytochemicals under in vitro gastrointestinal conditions does not fully explain the changes observed in vivo.

Adult↗

Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries.

The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for alpha1-antitrypsin deficiency (AT-D) in Europe. Criteria for selection of epidemiological studies were: 1) AT phenotyping performed by isoelectrofocusing or antigen-antibody crossed electrophoresis; 2) rejection of "screening studies"; 3) statistical precision factor score of > or = 5 for Southwest, Western and Northern Europe, > or = 4 for Central Europe, > or = 3 for Eastern Europe; and 4) samples representative of the general population. A total of 75,390 individuals were selected from 21 European countries (one each from Austria, Belgium, Latvia, Hungary, Serbia-Montenegro, Sweden and Switzerland; two each from Denmark, Estonia and Lithuania; three each from Portugal and the UK; four each from Finland, The Netherlands, Norway and Spain; five each from Russia and Germany; six from Poland; eight from Italy; and nine from France). The total AT-D populations of a particular phenotype in the countries selected were: 124,594 ZZ; 560,515 SZ; 16,323,226 MZ; 630,401 SS; and 36,716,819 MS. The largest number of ZZ (5,000-15,000) were in Italy, Spain, Germany, France, the UK, Latvia, Sweden and Denmark, followed by Belgium, Portugal, Serbia-Montenegro, Russia, The Netherlands, Norway and Austria (1,000-2,000), with < 1,000 in each of the remaining countries. A remarkable lack in number of reliable epidemiological studies and marked differences among these European countries and regions within a given country was also found.

Alleles↗

Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.

BACKGROUND: Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy. Alpha-1 antitrypsin deficiency (AAT Deficiency) is one of the most common serious hereditary diseases in the world, but its prevalence varies markedly from one country to another. AAT Deficiency affects at least 120.5 million carriers and deficient subjects worldwide for the two most prevalent deficiency alleles PIS and PIZ. This genetic disease is known to exist in Italy and is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults. METHODS: Studies on the genetic epidemiology of AAT Deficiency has resulted in the development of a unique database that permits a unique analysis of the geographic distribution in 14 different regions located at random from Piemonte to Sicilia. RESULTS: The use of Hardy-Weinberg statistical analysis to evaluate the distribution of these two deficiency alleles has demonstrated striking differences in the frequencies of these two deficiency alleles in these 14 different regions with 23/84 pair wise combinations significantly different (P=0.05) for PIS, and 5/84 combinations for PIZ. CONCLUSIONS: These findings demonstrate differences that impact the standards of care and diagnosis of AAT Deficiency in Italy since the prevalence of these deficiency alleles is not uniform throughout the country.

Alleles↗

Comparison between Haemophilus parasuis infection in colostrums-deprived and sow-reared piglets.

The aim of this study was to compare the development of Glasser's disease in sow-reared and colostrum-deprived piglets. Ninety piglets from a commercial pig farm in Spain were used. The farm was positive for Haemophilus parasuis. Fifty-two pigs were sow-reared (SR) and 38 were colostrum-deprived (CD) piglets. The animals were intratracheally inoculated with H. parasuis serovar 5 and sacrificed at 1, 2 and 3 days post-infection. To assess the development of disease, antibody titers, clinical signs, pathological lesions, microbiological isolation and PCR amplification were compared between the groups. Inoculation of SR pigs did not cause clinical signs or lesions of Glasser's disease. In SR pigs, H. parasuis isolation and specific PCR amplification from tissues showed a very low number of positive samples. In contrast, in CD pigs, inoculation resulted in the typical signs and lesions of Glasser's disease. Positive microbiological isolation and specific PCR products were obtained from the majority of the tissues tested, and no antibodies against H. parasuis were detected. The experimental infection using CD pigs describes a successful method to study this microorganism and confirms the important role that maternal antibodies play in protection against clinical signs and disease.

Animal Husbandry↗

Carotenoid depletion in serum of young type-1 diabetics fed low-carotenoid diets.

BACKGROUND/AIMS: Type-1 diabetics have been considered to be at risk for increased oxidative stress which has been implicated in the development of long-term diabetes complications. Evidence suggests that antioxidant activity may be an important mechanism by which carotenoids could confer protection in human health. Our aim was to compare the serum carotenoid depletion rate in type-1 diabetics and control subjects consuming low-carotenoid diets. METHODS: Ten type-1 diabetics and 8 controls followed a very low-carotenoid diet for 21 days. Dietary intake was recorded daily and fasting blood samples collected at baseline and after 1, 2, 3, 6, 11, 15, 16, 17, and 21 days. Individual carotenoids in serum were analyzed by a validated HPLC method. RESULTS: In both groups, carotenoid intake was less than 5% of the season-adjusted carotenoid reference intake. These diets resulted in decreased serum carotenoid levels in both groups, although depletion curves, final mean concentrations and the estimated half-life of carotenoids in serum revealed no differences between type-1 diabetics and controls. Levels of other minor serum carotenoids, cis-isomers and keto-carotenoids, also decreased whereas serum retinol and alpha- and gamma-tocopherol did not change during the study. CONCLUSION: Upon a low-carotenoid intake, the depletion rate of carotenoids in serum in young type-1 diabetics does not differ from that observed in matched related controls.

Adult↗

Lutein, but not alpha-tocopherol, supplementation improves visual function in patients with age-related cataracts: a 2-y double-blind, placebo-controlled pilot study.

OBJECTIVE: We investigated the effect of long-term antioxidant supplementation (lutein and alpha-tocopherol) on serum levels and visual performance in patients with cataracts. METHODS: Seventeen patients clinically diagnosed with age-related cataracts were randomized in a double-blind study involving dietary supplementation with lutein (15 mg; n = 5), alpha-tocopherol (100 mg; n = 6), or placebo (n = 6), three times a week for up to 2 y. Serum carotenoid and tocopherol concentrations were determined with quality-controlled high-performance liquid chromatography, and visual performance (visual acuity and glare sensitivity) and biochemical and hematologic indexes were monitored every 3 mo throughout the study. Changes in these parameters were assessed by General Linear Model (GLM) repeated measures analysis. RESULTS: Serum concentrations of lutein and alpha-tocopherol increased with supplementation, although statistical significance was reached only in the lutein group. Visual performance (visual acuity and glare sensitivity) improved in the lutein group, whereas there was a trend toward the maintenance of and decrease in visual acuity with alpha-tocopherol and placebo supplementation, respectively. No significant side effects or changes in biochemical or hematologic profiles were observed in any of the subjects during the study. CONCLUSIONS: Visual function in patients with age-related cataracts who received the lutein supplements improved, suggesting that a higher intake of lutein, through lutein-rich fruit and vegetables or supplements, may have beneficial effects on the visual performance of people with age-related cataracts.

Age Factors↗

Retinol and alpha-tocopherol in serum of type 1 diabetic patients with intensive insulin therapy: a long term follow-up study.

OBJECTIVE: We evaluated the effect of intensive insulin therapy and glycemic control in patients with type 1 diabetes on biochemical markers of vitamin A and E. METHODS: Fifty-seven patients with type 1 diabetes were enrolled in a follow-up study for 3 to 33 mo. At entrance, all patients were on conventional insulin therapy or recently had been diagnosed with the disease. Intensive insulin therapy (multiple daily glycemia records and at least three insulin doses daily) was established, and every 3 to 6 mo patients were screened for clinical, biochemical, and hematologic indexes. Biochemical markers of vitamin A and E nutrition status were measured at each visit by a quality-controlled high-performance liquid chromatography. RESULTS: At entrance, serum retinol concentrations, but not the ratio of alpha-tocopherol to cholesterol, showed a negative correlation with increasing values of HbA1c and insulin dose, neither of which was significant in multiple regression models. With intensive insulin therapy, a trend to normalize parameters of glycemic control (HbA1c and fructosamine) was observed within subjects and on a group level. However, no significant changes were observed in serum retinol or alpha-tocopherol:cholesterol ratio according to the metabolic control of the disease. CONCLUSIONS: Patients with type 1 diabetes under intensive insulin therapy tend to normalize the clinical parameters of glycemic control, although this improvement does not significantly affect biochemical markers of vitamin A and E status.

Adolescent↗

Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.

Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world because it affects all major racial subgroups worldwide and there are at least 120.5 million carriers and deficient subjects worldwide. This genetic disease is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults. Moreover, AAT-deficiency carrier phenotypes (PiMS and PiMZ) and deficiency-allele phenotypes (PiSS, PiSZ, and PiZZ) are suspected to make subjects susceptible to a variety of other adverse health effects. As there is a limited database on the number of individuals affected by this disease worldwide, the authors of the present report collected data on control cohorts in genetic epidemiological studies published in the peer-reviewed literature worldwide. The data collected were used to estimate the numbers of carriers and deficiency-allele combinations for the two most common defective alleles, namely PiS and PiZ, in over 58 countries worldwide. The present report focuses on the distribution of the PiS and PiZ deficiency alleles in France, Italy, Portugal, and Spain. The total number of individuals at risk for adverse health effects were as follows: 9, 101, 739 in France; 4, 289, 566 in Italy; 2, 659, 241 in Portugal; and 8, 903, 773 in Spain. The geographical distribution of individual control cohorts and estimates of the numbers of carriers and deficiency-allele phenotypes in each of these four southern European countries are shown in individual tables and maps. This report will be followed by other reports on the remaining countries in Europe, as well as worldwide.

Europe↗

Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America.

Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world, as its affects all major racial subgroups worldwide, and there are an estimated 120.5 million carriers and deficient subjects worldwide. This genetic disease is related to susceptibility for development of jaundice in infants, liver disease in children and adults and pulmonary emphysema in adults. Moreover, AAT deficiency carrier phenotypes (PiMS and PiMZ) and deficiency allele phenotypes (PiSS, PiSZ and PiZZ) are suspected to predispose subjects to a variety of other adverse health effects. Because there is a limited database on the number of individuals affected by this disease worldwide, we have collected data on control cohorts in genetic epidemiological studies published on case-control studies in the peer-reviewed literature worldwide. Based on these data, we estimated the numbers of carriers and deficiency allele combinations for the two most common defective alleles, namely PiS and PiZ in 58 countries worldwide. The present paper focuses on the distribution of the PiS and PiZ deficiency alleles in Australia, Canada, New Zealand and the United States of America. A total of 31,042,232 individuals at risk for adverse health effects have been calculated in these four countries: 2,144,158 in Australia, 3,258,564 in Canada, 430,922 in New Zealand and 24,909,548 in the United States of America. The prevalences for all five phenotypic classes of AAT deficiency in each of these countries is as follows: Australia 1 out of 8.9, Canada 1 out of 9.8, New Zealand 1 out of 8.5 and the United States of America 1 out of 11.3. The geographical distribution of individual control cohorts and estimates of the numbers of carriers and deficiency allele phenotypes in each of these four countries are given in individual tables.

Australia↗

Nutritional and clinical relevance of lutein in human health.

Lutein is one of the most widely found carotenoids distributed in fruits and vegetables frequently consumed. Its presence in human tissues is entirely of dietary origin. Distribution of lutein among tissues is similar to other carotenoids but, along with zeaxanthin, they are found selectively at the centre of the retina, being usually referred to as macular pigments. Lutein has no provitamin A activity in man but it displays biological activities that have attracted great attention in relation to human health. Epidemiological studies have shown inconsistent associations between high intake or serum levels of lutein and lower risk for developing cardiovascular disease, several types of cancer, cataracts and age-related maculopathy. Also, lutein supplementation has provided both null and positive results on different biomarkers of oxidative stress although it is effective in increasing macular pigment concentration and in improving visual function in some, but not all, subjects with different eye pathologies. Overall, data suggest that whereas serum levels of lutein have, at present, no predictive, diagnostic or prognostic value in clinical practice, its determination may be very helpful in assessing compliance and efficacy of intervention as well as potential toxicity. In addition, available evidence suggests that a serum lutein concentration between 0.6 and 1.05 micromol/l seems to be a safe, dietary achievable and desirable target potentially associated with beneficial impact on visual function and, possibly, on the development of other chronic diseases. The use of lutein as a biomarker of exposure in clinical practice may provide some rationale for assessing its relationship with human health as well as its potential use within the context of evidence-based medicine.

Biological Availability↗

Serum depletion and bioavailability of lutein in type I diabetic patients.

BACKGROUND: Lutein, a non-provitamin A carotenoid, is frequently consumed in the human diet. It is distributed preferentially in certain human tissues (i. e., retina) and shows a high antioxidant activity. Type 1 diabetic patients have been considered to be at risk of increased oxidative stress that may contribute to accelerated atherogenesis and to the microangiopathic complications of the disease. AIM OF THE STUDY: To assess the influence of type 1 diabetes mellitus on the serum depletion rate and bioavailability of lutein. SUBJECTS AND METHODS: Ten type 1 diabetics and eight controls consumed a low carotenoid diet for 21 days and the bioavailability study was performed in 7 diabetics and 5 controls on day 15 with the administration of a capsule of lutein esters from marigold extract. Samples were collected at baseline and on days 1, 2, 3, 6, 11, 15 (eight times during 9 h), 16, 17 and 21. Lutein and other carotenoids were determined by HPLC in triglyceride-rich lipoprotein (TRL) fractions and plasma or serum. RESULTS: Serum depletion curve, area of concentrations under time curve (AUC) and final concentration percentages were similar in diabetics and controls. In the bioavailability study, all-trans-lutein increased in both groups and AUC, maxima concentrations in TRL and serum and time required for maxima concentration in serum were similar in diabetics and controls. CONCLUSIONS: These data suggest that in the group of patients assessed, type 1 diabetes mellitus does not apparently influence the absorption and depletion rate of lutein in serum.

Adult↗

Plasma status of retinol, alpha- and gamma-tocopherols, and main carotenoids to first myocardial infarction: case control and follow-up study.

OBJECTIVE: Epidemiologic studies have suggested that dietary intake and plasma concentrations of antioxidants have an inverse relation with coronary heart disease. To test whether fat-soluble antioxidants can play a role against the occurrence of myocardial infarction (MI), we measured plasma levels of retinol, tocopherols, and individual carotenoids in MI patients. METHODS: A case-control and follow-up study of patients in the Móstoles area (Madrid, Spain). One hundred six patients (62 after 1 y) and 104 control subjects participated in the study. Blood samples were collected after overnight fast or during the first 24 h of MI onset for biochemical profiles of retinol, alpha- and gamma-tocopherols, and carotenoid by means of a quality-controlled high-performance liquid chromatography. RESULTS: During the acute phase after MI onset, plasma levels of retinol, gamma-tocopherol, and xanthophylls (lutein/zeaxanthin and beta-cryptoxanthin) decreased, whereas alpha-tocopherol, alpha-carotene, beta-carotene, and lycopene showed levels similar to those of control subjects. Logistic regression analysis showed low concentrations of gamma-tocopherol (and retinol) in plasma as the only statistically significant factor associated with MI, after adjusting for traditional risk factors. However, 1 y later, the MI patients showed a general improvement in plasma lipids and fat-soluble antioxidant status, and none of the analytes was associated with MI. CONCLUSIONS: The decreased plasma status of retinol, gamma-tocopherol, and xanthophylls during the acute phase of MI normalized the year after the MI event, suggesting that most subjects had followed an overall healthier lifestyle and dietary pattern. The results also raise concerns on the usefulness of these plasma compounds as specific, relevant, and predictive markers in relation to coronary heart disease.

Acute-Phase Reaction↗

Vitamin A and E content in dairy products: their contribution to the recommended dietary allowances (RDA) for elderly people.

OBJECTIVE: To determine the vitamin A, E and individual carotenoid content in dairy products and to assess their potential contribution to Recommended Dietary Intakes in elderly persons. METHODS: Dairy products frequently consumed were analyzed: whole, semi-skimmed and skimmed milk, vitamin-fortified milk, dry powder milk, yoghourt, cream, smelted and grated cheese, custard, butter, margarine and dairy-based probiotic products. Analysis were performed by HPLC as previously described. Accuracy and precision were assessed using Reference / Certified Materials. RESULTS: Vitamin A occurs as ester forms (mostly retinyl palmitate) whereas vitamin E is present as free form (mainly a-tocopherol). In supplemmented / fortified products they are added as ester forms, namely retinyl and tocopheryl acetate, respectively. b-carotene was the only carotenoid quantifiable in most products. Based on recommended intakes for dairy products in Spain, the consumption of three standard portions / day provide about 16% and 3% of the RDI for vitamin A (1000 ug/d) and E (15 mg/d), respectively. The same consumption but using fortified/ supplemented milk and yoghourt, may increase the contribution up to 39% (vitamin A) and 24% (vitamin E) of the RDI for elderly subjects. CONCLUSION: The inclusion of fortified dairy products in the diet may be a practical, sustainable and cost-effective approach for improving vitamin intake and status in the elderly.

Aged↗

Serum status of carotenoids and tocopherols in patients with age-related cataracts: a case-control study.

BACKGROUND: Cataract is an important health problem that increase with age, causes decreased visual acuity and constitute a major cause of disability in the elderly. Epidemiological studies have shown that elevated serum levels and / or intake of several antioxidants, such as carotenoids, vitamin E and ascorbic acid, are associated with a diminished risk for cataracts. OBJECTIVE: To assess the serum fat-soluble antioxidant status in patients with cataracts and its relationship with visual function. METHODS: One hundred thirty eight patients with senile cataracts, classified according to visual acuity, and 110 age and sex-matched controls were studied for individual carotenoids and tocopherols in serum by a quality-controlled HPLC method. One-way ANOVA analysis and logistic regression analysis were applied. RESULTS: Higher serum levels of lutein and zeaxanthin were associated as risk factors for cataract while b-cryptoxanthin and g-tocopherol appeared as protective variables. Higher levels of zeaxanthin and lower concentrations of b-cryptoxanthin were associated with cataracts in people < 61y whereas only lower levels of g-tocopherol were shown in subjects >61y. No significant correlations (adjusted for sex and age) were found between visual acuity and serum concentrations of carotenoids or tocopherols. CONCLUSION: Although the relation between carotenoids and cataracts is biologically plausible, serum carotenoid levels are highly dependent on dietary intake and thus may not be clinically relevant biomakers for cataracts risk.

Age Factors↗