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.

Murine typhus as a common cause of fever of intermediate duration: a 17-year study in the south of Spain.

BACKGROUND: Fever of intermediate duration (FID), characterized by a febrile syndrome lasting from 7 to 28 days, is a frequent condition in clinical practice, but its epidemiological and etiologic features are not well described. Murine typhus (MT) is a worldwide illness; nevertheless, to our knowledge, no studies describing its epidemiological and clinical characteristics have been performed in the south of Spain. Also, its significance as a cause of FID is unknown. OBJECTIVE: To determine the epidemiological features, clinical characteristics, and prognosis of MT and, prospectively, its incidence as a cause of FID. DESIGN: Prospective study of cases of MT over 17 years (1979-1995) and of all cases of FID treated in a tertiary teaching hospital in Seville, Spain. RESULTS: One hundred and four cases of MT were included, and MT was the cause in 6.7% of 926 cases of FID. Insect bites were reported in only 3.8% of the cases of MT previous to the onset of illness. Most cases (62.5%) occurred in the summer and fall. A high frequency of rash (62.5%) was noted. Arthromyalgia (77%), headache (71%), and respiratory (25%) and gastrointestinal (23%) symptoms were also frequent. Laboratory findings were unspecific. Organ complications were uncommon (8.6%), but they were severe in 4 cases. The mean duration of fever was 12.5 days. Cure was achieved in all cases, although only 44 patients received specific treatment. CONCLUSIONS: Murine typhus is prevalent in the south of Spain and is a significant cause of FID. Clinical signs are benign, but some patients may develop severe complications. A high degree of clinical suspicion is required for diagnosis.

Seasonal and sex-related variations in six serum carotenoids, retinol, and alpha-tocopherol.

We report the results of a study on the influence of season and sex on serum concentrations of six carotenoids, retinol, and alpha-tocopherol, as determined by reversed-phase HPLC. The subjects were 111 healthy individuals (54 females, 57 males); 18 additional subjects (10 females, 8 males) were assessed for within-subject longitudinal seasonal variations. Men presented significantly higher retinol concentrations (P = 0.002) and lower concentrations of provitamin A carotenoids--alpha carotene (P = 0.006), beta-carotene (P < 0.001), and beta-cryptoxanthin (P < 0.001)--than women. There were no significant differences between the sexes with respect to nonprovitamin A carotenoids (lutein, zeaxanthin, and lycopene) or alpha-tocopherol. Significant seasonal increments (P < 0.05) in serum concentrations of alpha-carotene and beta-carotene (in summer) and of beta-cryptoxanthin (in winter) were detected in both sexes; in males, lutein was higher in summer whereas in females it rose in spring. No sex-related or seasonal variations were observed in alpha-tocopherol, zeaxanthin, or lycopene. Serum concentrations of provitamin A carotenoids vary according to the individual's sex and season of the year.

Supplementation with lutein (4 months) and alpha-tocopherol (2 months), in separate or combined oral doses, in control men.

As part of a European project to test if 'the consumption of diets rich in carotenoids reduces oxidative damage to human tissue components', 15 mg/day lutein and 100 mg/day alpha-tocopherol were supplied to ten volunteers. alpha-Tocopherol (alone and combined) provoked an increase in alpha-tocopherol and a decrease in gamma-tocopherol serum levels. Lutein levels increased during the first month (given alone) in all controls but they behaved very differently during the following 3 months. Ketocarotenoids (not supplied) increased whereas anhydroluteins (not supplied) did not change, suggesting that they are formed in vivo.

Wall thickness of ventricular chambers in transposition of the great arteries: surgical implications.

One hundred four specimens of complete transposition of the great arteries (TGA) were studied. The free wall thickness of the left (LV-T) and right (RV-T) ventricular chambers and the left ventricular/right ventricular (LV/RV) thickness ratio for all hearts were analyzed. A control group of 63 normal hearts was also studied. Specimens of TGA were divided into four groups: (1) TGA with intact ventricular septum (TGA + IVS); (2) TGA with ventricular septal defect (TGA + VSD); (3) TGA with a large patent ductus arteriosus (TGA + PDA); (4) TGA with pulmonary stenosis (TGA + PS). In Group I, LV-T was under the 95% confidence limits for normality after 8 months of age, and in Group II, the same was true after 18 months of age. For all groups the RV-T was above the 95% confidence limits for normality from the first month of age. The LV/RV ratio was under 1 in every group. Group I showed a significant decrease in the LV/RV ratio after the neonatal period (p less than 0.005). The potential failure of the left ventricle after anatomic correction of TGA is explained by a multifactorial hypothesis. In view of the ventricular wall thickness findings, we do not recommend the anatomic correction after 8 months of age in Group I or after 18 months in Group II.

Growth and micronutrient needs of adolescents.

OBJECTIVE: This paper focuses on micronutrients in relation to needs throughout adolescence, a period which involved growth and development that occur through a complex interaction of genetic instructions, hormones and environmental influences, many of them of dietary origin. In the context of micronutrient 'needs' it is of special importance to differentiate between the 'nutritional needs' and 'metabolic needs'. Two main questions arise in relation to the micronutrient needs: (1) why are micronutrients necessary? and (2) how are their needs assessed? RESULTS: The 'necessary' amount will differ according to the objectives pursued: (a) to achieve a satisfactory rate of growth and development; and (b) to maintain 'optimal health'. The assessment of micronutrient needs and status has proved to be difficult, but when elucidating and establishing them, it is imperative to arrive at the estimates in the light of their interdependent role in metabolism and functions. The knowledge of micronutrient metabolic needs can be approached through epidemiological observations, bioavailability studies and clinical trials. However, there is a nearly total absence of reports on the particular metabolic and dietary needs of adolescents. CONCLUSION: Thus more studies are required in relation to the effect of features associated with adolescence on 'needs', evaluating their impact on bioavailability and turnover (storage and losses), and the interactions among micronutrients in the assessment of metabolic and nutritional needs. Another aim should be to establish static and functional indexes, reference values and cut-off points in adolescence, to be used in clinical and epidemiological studies. Future studies should focus on needs to determine those required to maintain 'optimal functions' and regarding the potential prevention of chronic adult diseases.

Major fruit and vegetable contributors to the main serum carotenoids in the Spanish diet.

OBJECTIVE: To identify the main sources of serum carotenoids (lutein, zeaxanthin, lycopene, beta-cryptoxanthin, alpha-carotene and beta-carotene) among the fruits and vegetables in the Spanish diet, to be used in the design of food questionnaires and to provide useful information for epidemiological and comparative studies. DESIGN: A Family Budget Survey from the National Institute of Statistics (1990-1991); an open questionnaire dealing with foods consumed over a one-week period; physical amounts consumed annually and during three-month periods. Calculation of the percentage contribution of each food on the basis of a standard portion as well as the carotenoid concentrations previously reported by our laboratory. SETTING: Nationwide (urban and rural). SUBJECTS: Twenty-one thousand, one hundred and fifty-five (21 155) randomly selected, private households throughout Spain (72279 subjects). RESULTS: Nine vegetables (potato, tomato, green bean, green and/or red pepper, carrot, artichoke, spinach, lettuce and beet) and five fruits (orange, tangerine, banana, peach and watermelon) account for more than 96% of the intake of the major six carotenoids in serum, both on a yearly and on a seasonal basis. Fruit and vegetables provide between 3.0mg (in autumn) and 4.3mg (in summer) of these carotenoids per day. CONCLUSIONS: In our population, a small number of fruits and vegetables can provide significant information on carotenoid intake (both annually and seasonally) to be used in the design of questionnaires for epidemiological studies, minimizing misclassification and errors. The marked seasonality of some products causes wide differences in the supply of, above all, beta-cryptoxanthin and lycopene.

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.

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.

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.

Evaluation of retinol, alpha-tocopherol, and carotenoids in serum of men with cancer of the larynx before and after commercial enteral formula feeding.

BACKGROUND: Both epidemiologic and in vitro studies have indicated the inverse correlation between intake and/or blood concentrations of different carotenoids, retinol, and tocoferol with different chronic and degenerative disturbances (cancer, cardiovascular diseases, cataracts, aging). The purpose of this study was to determine the fat-soluble vitamin and carotenoid levels in men with recently diagnosed cancer of the larynx (n = 51) who had undergone total or partial laryngectomy and compare them with those of an age- and sex-matched control group (n = 51). In addition, the effects of commercial enteral formula feeding were assessed in a subgroup of these patients (n = 35). METHODS: A validated high-performance liquid chromatography method was used to determine the concentrations of six carotenoids (lutein, zeaxanthin, beta-cryptoxanthin, lycopene, alpha-carotene, and beta-carotene), retinol, and alpha-tocopherol in serum. Commercial, rather than blender prepared, enteral formulas were supplied to the patients as the only food source for an average period of 12 days. The statistical analysis was based on nonparametric methods (Mann-Whitney and Wilcoxon). RESULTS: The levels of all compounds analyzed were significantly lower in men with laryngeal cancer than in the control group. Retinol and tocopherol increased significantly after enteral formula feeding, although they continued to be significantly lower than those of the controls. The carotenoid levels decreased after enteral nutrition. CONCLUSIONS: The retinol and carotenoid concentrations should be monitored on a routine basis in these patients because of their relationship to this type of cancer. Moreover, it would be of interest to assess the effects of the addition of carotenoids to enteral formulas because they may offer protection from oxidative damage and potentiate the immune system.

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.

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.

Hyper-beta-carotenemia unrelated to diet: a case of brain tumor.

In addition to the provitamin A function of some carotenoids, many of them exhibit antioxidant activity. Epidemiological studies show that high serum levels and/or elevated intake of carotenoids have a protector effect against several chronic and degenerative diseases. We determined the levels and studied the behavior of the major carotenoids and retinol in serum of a brain tumor patient receiving standard (carotenoid-free) artificial enteral nutrition for eight months. After nearly two months on this diet, the retinol level was in the upper region of normal range and the beta-carotene concentration was unusually high. Analyses after several months on this diet showed a decrease in retinol, whereas the beta-carotene concentration had doubled (up to 203 micrograms/dl). Other carotenoids usually found in serum were present in very small amounts or not at all. We conclude that, although diet is an important factor in the presence and proportion of carotenoids in serum, the case we report here appears to indicate that other factors related to the development of certain diseases may be relevant determinants of changes in the carotenoid profile.

[Radiofrequency catheter ablation in permanent atrioventricular junctional reciprocating tachycardia in children]. / Ablación con catéter mediante radiofrecuencia en la taquicardia incesante recíproca de la unión auriculoventricular en niños.

BACKGROUND: The permanent form of junctional reciprocating tachycardia occurs predominantly in childhood and is frequently refractory to pharmacologic treatment. These patients are at high risk for developing tachycardia-induced cardiomyopathy. Radiofrequency transcatheter ablation appears promising as safe and effective therapy in children. PATIENTS, METHODS AND RESULTS: Six patients ranged in age from 3 months to 20 years who had the permanent form of junctional reciprocating tachycardia underwent radiofrequency catheter ablation. Five patients had been treated with 3.4 +/- 1.1 antiarrhythmic drugs and one patient did not receive treatment before ablation. Three accessory pathways were located in the right posteroseptal area, two in the left posteroseptal area and one in the left posterior free wall. The six patients had seven successful procedures performed including one after tachycardia recurrence in one patient six weeks after the first ablation session. Five ablation procedures were performed with temperature-guided catheter ablation. The temperature reached during successful radiofrequency applications was 55-60 degrees C at a power output from 24 to 47 W. In the other two procedures 25 W were given. No complications were observed. After a mean follow up of 11.6 months all patients are asymptomatic including a 3 months old patient with tachycardia-induced cardiomyopathy. CONCLUSIONS: Radiofrequency transcatheter ablation is an important option of therapy in children with the permanent form of junctional reciprocating tachycardia, including patients with tachycardia-induced cardiomyopathy.

[Anatomy and surgical implications of incomplete forms of atrioventricular septal defects]. / Anatomía e implicaciones quirúrgicas de las formas incompletas de defectos del septo atrioventricular.

We present an anatomic intraoperative study of 93 consecutive operated cases with an ostium primum defect. The type of the ostium primum, size of interauricular defect, position of the coronary sinus, tricuspid valve, mitral valve and subvalvular apparatus, are analyzed. Inside the mitral valve apparatus, the size, form, type and number of clefts are described as well as septal valve anomalies. We point out the importance of performing a detailed and fast anatomic study within a surgical protocol to obtain the optimal anatomic correction of the cardiopathy.

[Dilated cardiomyopathy in infants and children]. / Miocardiopatía dilatada en lactantes y niños.

Three cases of dilated cardiomyopathy manifested at 2, 5, and 13 months of age are reported. The clinical, radiographic, electrocardiographic, echocardiographic and angiocardiographic findings are analyzed. The follow up during 11, 14 and 16 years is described. After several years of the onset, 2 patients recovered a normal cardiac function. The third patient required a cardiac transplant when he was 9 years old, and now, after 2 and a half years, he is healthy, without congestive heart failure. Current references about indications of cardiac transplant in this disease are reviewed. We got the following conclusion: In patients with dilated cardiomyopathy, at least in those who begin before 2 years, the indication and the time of the cardiac transplant have to be established by individual valuation of each case, considering the follow up of the risk's criteria, mainly the congestive heart failure.

[Surgical treatment of Fallot's tetralogy with hyperplasia or agenesis of the conal septum]. / Tratamiento quirúrgico de la tetralogía de Fallot con hipoplasia o agenesia del septo conal.

INTRODUCTION: The clinical evolution, anatomosurgical aspects, and postoperative evolution of a specific group of Fallot's tetralogy with hipoplasic or agenesic of the conal septum (representing a 7% of our Fallot's tetralogy cases) is presented. METHODS: A total of 41 patients surgically corrected in our Service between February 1973 and December 1995 has been retrospectively studied. Ages ranged between 13 months and 13 year. Clinically all cases developed moderate or severe hypoxemia. In 43.9% of cases it was necessary to perform a palliative surgery at an age between 15 days and 4 years. RESULTS: There was no hypoxemics spells. In the ECG we have found a QS in the aVR in 40% of cases. There was 7 deaths (17% of mortality rate). Four cases required reoperation. The clinical evolution, ECG, EKO, and hemodynamics findings are commented. CONCLUSIONS: In this type of Fallot's tetralogy, specifically in those cases with a pulmonary artery ring of normal size, it is necessary to have a good preoperative diagnoses in order to perform a longitudinal ventriculotomy with right ventricular outflow tract enlargement. Also, it is important to be meticulous with the stitches in the closure of the ventricular septal defect with a patch in order to avoid the potential lesion of the aortic valve.

[Guidelines of clinical practice of the Spanish Society of Cardiology. Requirements and equipment of invasive techniques in pediatric cardiology: clinical application]. / Guías de actuación clínica de la Sociedad Española de Cardiología. Requerimientos y equipamiento de las técnicas invasivas en cardiología pediátrica: aplicación clínica.

Invasive techniques in pediatric cardiology have experienced a big change since the 80's. The growth of non-invasive methods for diagnosing congenital heart defects has made the number of diagnostic catheterizations decrease remarkably. On the other hand, the notable development of pediatric interventional catheterization techniques will allow that, in the near future, the number of therapeutic catheterizations overcomes the diagnostic ones in our country. The former are more difficult and dangerous, so they require experienced and skilled hands and more economic resources. This chapter is divided in three main sections: I) Requirements and equipment needed for pediatric invasive techniques; II) Current indications, contraindications and complications of the diagnostic catheterization, and III) Techniques, indications and results of pediatric therapeutic catheterization: current state. Likewise, we state the suitability or not for these therapeutic procedures in different cardiac anomalies.

[Williams-Beuren syndrome: presentation of 82 cases]. / Síndrome de Williams-Beuren: presentación de 82 casos.

OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS. RESULTS: Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12 %) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5 %) studied showed the typical deletion of WBS. CONCLUSION: Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.