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OBJECTIVE: This article aims to estimate the differences in environmental impact (greenhouse gas [GHG] emissions, land use, energy used, acidification and potential eutrophication) after one year of promoting a Mediterranean diet (MD). METHODS: Baseline and 1-year follow-up data from 5800 participants in the PREDIMED-Plus study were used. Each participant's food intake was estimated using validated semi-quantitative food frequency questionnaires, and the adherence to MD using the Dietary Score. The influence of diet on environmental impact was assessed through the EAT-Lancet Commission tables. The influence of diet on environmental impact was assessed through the EAT-Lancet Commission tables. The association between MD adherence and its environmental impact was calculated using adjusted multivariate linear regression models. RESULTS: After one year of intervention, the kcal/day consumed was significantly reduced (-125,1 kcal/day), adherence to a MD pattern was improved (+0,9) and the environmental impact due to the diet was significantly reduced (GHG: -361 g/CO2-eq; Acidification:-11,5 g SO2-eq; Eutrophication:-4,7 g PO4-eq; Energy use:-842,7 kJ; and Land use:-2,2 m2). Higher adherence to MD (high vs. low) was significantly associated with lower environmental impact both at baseline and one year follow-up. Meat products had the greatest environmental impact in all the factors analysed, both at baseline and at one-year follow-up, in spite of the reduction observed in their consumption. CONCLUSIONS: A program promoting a MD, after one year of intervention, significantly reduced the environmental impact in all the factors analysed. Meat products had the greatest environmental impact in all the dimensions analysed.
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Dieta Mediterrânea , Gases de Efeito Estufa , Humanos , Dieta , Meio Ambiente , Coleta de DadosRESUMO
SARS-CoV-2 infection has had a major impact on donation and transplantation. Since the cessation of activity two years ago, the international medical community has rapidly generated evidence capable of sustaining and increasing this neccesary activity. This paper analyses the epidemiology and burden of COVID-19 in donation and transplantation, the pathogenesis of the infection and its relationship with graft-mediated transmission, the impact of vaccination on donation and transplantation, the evolution of donation in Spain throughout the pandemic, some lessons learned in SARS-CoV-2 infected donor recipients with positive PCR and the applicability of the main therapeutic tools recently approved for treatment among transplant recipients.
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COVID-19 , Transplante de Órgãos , Humanos , SARS-CoV-2 , Pandemias , Doadores de TecidosRESUMO
INTRODUCTION: The organ and tissue donation interview is a vital step in obtaining the donation. Therefore, it is important to obtain as much information as possible regarding the relatives of the potential donor prior to this interview and know if there is a health care professional among the relatives who may act as an interlocutor. OBJECTIVE: The objective of this study is to assess the influence that relatives who are health care professionals may have if present at the interview for the organ and tissue donation request. METHODS: This is a descriptive study of all the organ donations from 1996 to 2019. Variables of the interview record form were completed by the Regional Transplant Coordination Office. Quantitative variables are expressed as mean (standard deviation) or median (interquartile range), and qualitative variables are expressed in percentage. The χ2 test was used for inferential statistics. RESULTS: Health care professionals were present as interlocutors in 8.4% of the total interviews conducted (9279). Organ donation was accepted in 86% of these interviews, while the relative who was a health care professional gave a 93.8% (729) positive response to the donation. Having a health care professional as an interlocutor favors the acceptance of the donation (odds ratio 9.325, 95% confidence interval: 5.054-17.205; P < .001). CONCLUSION: Health care professionals have a very positive attitude toward donation. This attitude positively impacts other relatives' acceptance of the donation.
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Família/psicologia , Pessoal de Saúde/psicologia , Transplante de Órgãos/psicologia , Papel Profissional/psicologia , Obtenção de Tecidos e Órgãos , Adulto , Atitude do Pessoal de Saúde , Feminino , Humanos , Masculino , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Doadores de Tecidos/psicologiaRESUMO
This study reveals that injecting a light fluid of density ρ_{b} in the recirculating bubble of a bluff body at Re≈6.4×10^{4} has a greater drag reduction potential than blowing fluid of a density greater than or equal to that of the free stream ρ. It is found that the maximum drag reduction scales as (ρ_{b}/ρ)^{-1/6}. This power law combines the ability of the recirculating bubble to diffuse the injected momentum and the effectiveness of the injection to increase the recirculating bubble length.
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INTRODUCTION AND OBJECTIVES: Metabolic syndrome (MetS) is a combination of various cardiovascular risk factors with a major impact on morbidity and premature mortality. However, the impact of MetS on self-reported health-related quality of life (HRQoL) is unknown. This study evaluated the HRQoL in a Spanish adult population aged 55 years and older with MetS. METHOD: A cross-sectional analysis was performed with baseline data from the PREDIMED-Plus multicentre randomized trial. The participants were 6430 men and women aged 55-75 years with overweight/obesity (body mass index ≥27 and ≤40kg/m2) and MetS. The SF-36 questionnaire was used as a tool to measure HRQoL. Scores were calculated on each scale of the SF-36 by gender and age. RESULTS: Participants showed higher scores in the social function (mean 85.9, 95% CI; 85.4-86.4) and emotional role scales (mean 86.8, 95% CI; 86.0-87.5). By contrast, the worst scores were obtained in the aggregated physical dimensions. In addition, men obtained higher scores than women on all scales. Among men, the worst score was obtained in general health (mean 65.6, 95% CI; 65.0-66.2), and among women, in body pain (mean 54.3, 95%CI; 53.4-55.2). A significant decrease was found in the aggregated physical dimensions score among participants 70-75 years old, but an increased one in the aggregated mental dimensions, compared to younger participants. CONCLUSIONS: Our results reflect that the MetS may negatively affect HRQoL in the aggregated physical dimensions, body pain in women, and general health in men. However, this adverse association was absent for the psychological dimensions of HRQoL, which were less affected.
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Síndrome Metabólica , Qualidade de Vida , Idoso , Índice de Massa Corporal , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
BACKGROUND & AIMS: Little is known about the impact of specific dietary patterns on the development of obesity phenotypes. We aimed to determine the association of longitudinal changes in adherence to the traditional Mediterranean diet (MedDiet) with the transition between different obesity phenotypes. METHODS: Data of 5801 older men and women at high cardiovascular risk from PREDIMED trial were used. Adherence to MedDiet was measured with the validated 14p-Mediterranean Diet Adherence Screener (MEDAS). Using the simultaneous combination of metabolic health- and body size-related parameters participants were categorized into one of four phenotypes: metabolically healthy and abnormal obese (MHO and MAO), metabolically healthy and abnormal non-obese (MHNO and MANO). Cox regression models with yearly repeated measures during 5-year of follow-up were built with use of Markov chain assumption. RESULTS: Each 2-point increase in MEDAS was associated with the following transitions: in MAO participants, with a 16% (95% CI 3-31%) greater likelihood of becoming MHO; in MHO participants with a 14% (3-23%) lower risk of becoming MAO; in MHNO participants with a 18% (5-30%) lower risk of becoming MHO. In MANO women, but not in men, MEDAS was associated with 20% (5-38%) greater likely of becoming MHNO (p for interaction by gender 0.014). No other significant associations were observed. CONCLUSIONS: Better adherence to the traditional MedDiet is associated with transitions to healthier phenotypes, promoting metabolic health improvement in MAO, MANO (only in women), and MHO, as well as protecting against obesity incidence in MHNO subjects.
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Índice de Massa Corporal , Dieta Mediterrânea/estatística & dados numéricos , Avaliação Geriátrica/métodos , Obesidade/dietoterapia , Cooperação do Paciente/estatística & dados numéricos , Idoso , Feminino , Humanos , Estudos Longitudinais , Masculino , FenótipoRESUMO
BACKGROUND AND AIMS: There is ongoing controversy about the effect of a low to moderate alcohol consumption on atrial fibrillation (AF). Our aim is to assess the association between adherence to a Mediterranean alcohol drinking pattern and AF incidence. METHODS AND RESULTS: A total 6527 out of the 7447 participants in the PREDIMED trial met our inclusion criteria. A validated frequency food questionnaire was used to measure alcohol consumption. Participants were classified as non-drinkers, Mediterranean alcohol drinking pattern (MADP) (10-30 g/d in men and 5-15 g/day in women, preferably red wine consumption with low spirits consumption), low-moderate drinking (<30 g/day men y and < 15 g/day women), and heavy drinking. We performed multivariable Cox regression models to estimate hazard ratios (HR) with 95% confidence intervals (95% CI) of incident AF according to alcohol drinking patterns. After a mean follow up of 4.4 years, 241 new incident AF cases were confirmed. Alcohol consumption was not associated to AF incidence among low-moderate drinkers (HR: 0.96; 95%CI: 0.67-1.37), adherents to MADP (HR: 1.15 95%CI: 0.75-1.75), or heavy drinkers (HR: 0.92; 95%CI: 0.53-1.58), compared with non-drinkers. CONCLUSIONS: In a high cardiovascular risk adult population, a Mediterranean alcohol consumption pattern (low to moderate red wine consumption) was not associated with an increased incidence of AF. CLINICAL TRIALS: URL: http://www.controlled-trials.com. Unique identifier: ISRCTN35739639.
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Consumo de Bebidas Alcoólicas/tendências , Fibrilação Atrial/epidemiologia , Dieta Mediterrânea , Comportamento Alimentar , Vinho , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Fibrilação Atrial/diagnóstico , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Espanha/epidemiologia , Fatores de Tempo , Vinho/efeitos adversosRESUMO
BACKGROUND: Recent studies show that most systemic mastocytosis (SM) patients, including indolent SM (ISM) with (ISMs+) and without skin lesions (ISMs-), carry the KIT D816V mutation in PB leukocytes. We investigated the potential association between the degree of involvement of BM hematopoiesis by the KIT D816V mutation and the distribution of different maturation-associated compartments of bone marrow (BM) and peripheral blood (PB) CD34+ hematopoietic precursors (HPC) in ISM and identified the specific PB cell compartments that carry this mutation. METHODS: The distribution of different maturation-associated subsets of BM and PB CD34+ HPC from 64 newly diagnosed (KIT-mutated) ISM patients and 14 healthy controls was analyzed by flow cytometry. In 18 patients, distinct FACS-purified PB cell compartments were also investigated for the KIT mutation. RESULTS: ISM patients showed higher percentages of both BM and PB MC-committed CD34+ HPC vs controls, particularly among ISM cases with MC-restricted KIT mutation (ISMMC ); this was associated with progressive blockade of maturation of CD34+ HPC to the neutrophil lineage from ISMMC to multilineage KIT-mutated cases (ISMML ). Regarding the frequency of KIT-mutated cases and cell populations in PB, variable patterns were observed, the percentage of KIT-mutated PB CD34+ HPC, eosinophils, neutrophils, monocytes and T cells increasing from ISMs-MC and ISMs+MC to ISMML patients. CONCLUSION: The presence of the KIT D816V mutation in PB of ISM patients is associated with (early) involvement of circulating CD34+ HPC and multiple myeloid cell subpopulations, KIT-mutated PB CD34+ HPC potentially contributing to early dissemination of the disease.
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Células-Tronco Hematopoéticas/metabolismo , Mastocitose Sistêmica/etiologia , Mastocitose Sistêmica/metabolismo , Alelos , Antígenos CD34/metabolismo , Biomarcadores , Células da Medula Óssea/citologia , Células da Medula Óssea/metabolismo , Estudos de Casos e Controles , Diferenciação Celular/genética , Feminino , Genótipo , Células-Tronco Hematopoéticas/citologia , Humanos , Imunofenotipagem , Leucócitos/citologia , Leucócitos/metabolismo , Masculino , Mastocitose Sistêmica/diagnóstico , Mutação , Proteínas Proto-Oncogênicas c-kit/genética , Proteínas Proto-Oncogênicas c-kit/metabolismo , EspanhaRESUMO
Systemic mastocytosis (SM) is a heterogeneous disease with altered interleukin (IL)-6 and IL13 plasma levels. However, no study has simultaneously investigated the plasma levels of IL1ß, IL6, IL13, CCL23 and clusterin in SM at diagnosis and correlated them with disease outcome. Here we investigated IL1ß, IL6, IL13, CCL23 and clusterin plasma levels in 75 SM patients--66 indolent SM (ISM) and 9 aggressive SM--and analyzed their prognostic impact among ISM cases grouped according to the extent of hematopoietic involvement of the bone marrow cells by the KIT D816V mutation. Although increased IL1ß, IL6 and CCL23 levels were detected in SM patients versus healthy controls, only IL6 and CCL23 levels gradually increased with disease severity. Moreover, increased IL6 plasma levels were associated with ISM progression to more aggressive disease, in particular among ISM patients with multilineal KIT mutation (ISM-ML), these patients also showing a higher frequency of organomegalies, versus other ISM-ML patients. Of note, all ISM patients who progressed had increased IL6 plasma levels already at diagnosis. Our results indicate that SM patients display an altered plasma cytokine profile already at diagnosis, increased IL6 plasma levels emerging as an early marker for disease progression among ISM cases, in particular among high-risk ISM patients who carry multilineage KIT mutation.
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Interleucina-6/sangue , Mastocitose Sistêmica/imunologia , Quimiocinas CC/sangue , Progressão da Doença , Humanos , Interleucina-1beta/sangue , Mastocitose Sistêmica/genética , Mastocitose Sistêmica/mortalidade , Mutação , Proteínas Proto-Oncogênicas c-kit/genética , RiscoRESUMO
OBJECTIVE: To define whether the rs9939609 FTO (fat mass and obesity associated) single nucleotide polymorphism (SNP) is associated with anthropometric measurements and its modulation by educational level in a Mediterranean population. METHODS: We studied 3 independent adult samples: a random sample (n = 1580) from the general population (GP), obese hospital patients (OHP) (n = 203) and elderly subjects (n = 1027) with high cardiovascular risk (HCR). Weight and height were directly measured. Education and physical activity (PA) were measured using questionnaires. RESULTS: The rs9939609 presented heterogeneous associations with BMI. In the GP, the minor A-allele was significantly associated with greater BMI, following a co-dominant pattern (P = 0.009), whereas in the OHP this association was recessive (P = 0.004). Conversely, we did not find a significant association with BMI in the HCR group (P < 0.596). In the GP we found a significant interaction between the FTO SNP and education (P = 0.048). In the stratified analysis, no association of the FTO SNP with greater BMI in university subjects was detected (P = 0.786), whereas the association was observed in non-university subjects (P = 0.001). The FTO × education interaction (P = 0.020) was also observed in determining obesity risk in the GP. A-allele carriers had a greater risk of being obese only if they had no university education (OR: 1.56; 95%CI: 1.09-2.23 for TA and OR: 2.01; 95%CI: 1.27-3.26 for AA subjects). The interaction of the FTO with education remained significant even after adjustment for PA. CONCLUSIONS: The association of the FTO SNP with greater BMI and obesity risk in the GP was strongly modulated by education.
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Índice de Massa Corporal , Escolaridade , Obesidade/genética , Polimorfismo de Nucleotídeo Único , Proteínas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Antropometria , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Modelos Lineares , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Atividade Motora , Análise Multivariada , Obesidade/diagnóstico , Obesidade/epidemiologia , Razão de Chances , Fenótipo , Prevalência , Medição de Risco , Fatores de Risco , Espanha/epidemiologia , Inquéritos e Questionários , Adulto JovemRESUMO
BACKGROUND: High saturated fat consumption, mostly from red meat and sausage meat has been associated with an increase in cardiovascular risk (CVR) in contrast to the effect of high fish consumption. OBJECTIVE: To get to know the frequency of meat and fish consumption in an elderly high Mediterranean population, their correlations with adherence to the Mediterranean diet (MD) and their association with intermediate CVR phenotypes. METHODS: A cross-sectional study was carried out on 945 people (67.4±6.2 years old) with high CVR recruited in primary care centres of Valencia, and participating in the PREDIMED study. The frequency of meat and fish consumption was determined through a validated questionnaire. We analyzed clinical, biochemical and anthropometric variables using standard methods. RESULTS: Mean red meat consumption was high (7.4±4.7 times/week), being higher in men than in women (P=0.031) and was associated with greater weight (P=0.001) and prevalence of obesity (P=0.025). Fish consumption was also high (4.5±2.6 time/week) and was associated with lower concentrations of fasting plasma glucose (P=0.016) as well as with lower prevalence of diabetes (P=0.017). CONCLUSION: Red meat consumption in this high CVR population is very high and far from the recommendations of MD, needing, therefore, to be reduced. Fish consumption is closer to the recommendations and should be maintained.
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Doenças Cardiovasculares/epidemiologia , Comportamento Alimentar , Peixes , Carne , Idoso , Idoso de 80 Anos ou mais , Animais , Análise Química do Sangue , Glicemia/metabolismo , Peso Corporal/fisiologia , Bovinos , Diabetes Mellitus/epidemiologia , Inquéritos sobre Dietas , Feminino , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Aves Domésticas , Risco , Fatores Sexuais , Fumar/epidemiologia , Espanha/epidemiologia , Inquéritos e Questionários , Suínos , População BrancaRESUMO
BACKGROUND: The increasing number of samples from the biomedical genetic studies and the number of centers participating in the same involves increasing risk of mistakes in the different sample handling stages. We have evaluated the usefulness of the amelogenin test for quality control in sample identification. METHODS: Amelogenin test (frequently used in forensics) was undertaken on 1224 individuals participating in a biomedical study. Concordance between referred sex in the database and amelogenin test was estimated. Additional sex-error genetic detecting systems were developed. RESULTS: The overall concordance rate was 99.84% (1222/1224). Two samples showed a female amelogenin test outcome, being codified as males in the database. The first, after checking sex-specific biochemical and clinical profile data was found to be due to a codification error in the database. In the second, after checking the database, no apparent error was discovered because a correct male profile was found. False negatives in amelogenin male sex determination were discarded by additional tests, and feminine sex was confirmed. A sample labeling error was revealed after a new DNA extraction. CONCLUSION: The amelogenin test is a useful quality control tool for detecting sex-identification errors in large genomic studies, and can contribute to increase its validity.
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Amelogenina/análise , Amelogenina/genética , DNA/análise , Medicina Legal/métodos , Análise para Determinação do Sexo/métodos , DNA/química , Bases de Dados de Ácidos Nucleicos , Eletroforese em Gel de Poliacrilamida , Feminino , Genômica , Humanos , Masculino , Controle de Qualidade , Ensaios Clínicos Controlados Aleatórios como Assunto , Reprodutibilidade dos TestesRESUMO
BACKGROUND: It is necessary to have simple tools to screen erectile dysfunction (ED) in an easy, reliable and valid manner. The objective of this study was to develop and validate a short diagnostic questionnaire for erectile dysfunction [SQUED), easy to use in the primary care setting. SUBJECTS AND METHOD: The development of SQUED included: concepts identification, item generation and evaluation of contents and face validity through interviews with subjects to assess comprehension and idiomatic adequacy. The psychometric validation was conducted in an epidemiologic, observational, comparative and multicenter study. Participants should complete the questionnaire in primary care setting and send to the specialist to confirm the diagnosis by an in depth interview and the application of IIEF questionnaire. Internal consistency, test-retest reliability and sensitivity and specificity of SQUED was evaluated. RESULTS: Out of 405 subjects enrolled, 316 (208 ED and 108 non-ED) were evaluable. The SQUED questionnaire showed a high internal consistency (Cronbach's alpha = 0.92) and a good test-retest reliability (Kappa index = 0.77). Furthermore, the questionnaire showed a good diagnostic capacity with high values of sensitivity and specificity, 0.87 and 0.78, respectively, in relation to the diagnosis made by urologists. The cutting point was established at a score of 12. DISCUSSION: The SQUED questionnaire is a simple, easy to use and reliable instrument. It can become a useful tool, and the shortest validated, for primary care physicians to easily screen for ED patients. Its simplicity should facilitate an easy cultural adaptation and validation into other languages.
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Disfunção Erétil/diagnóstico , Inquéritos e Questionários , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
HYPOTHESIS: The increase in the awareness of computers in the general population and the spread of Internet as a tool for communication and knowledge, allows patients to have greater understanding of their conditions. OBJECTIVE: To evaluate the use of Internet by the population from a health area and the knowledge extracted about their urological conditions. MATERIAL AND METHODS: This prospective study included all patients of age who attended a hospital urology clinic between 1st September and 31st December 2006, in a health area of 200,000 inhabitants. All patients were given a self-administered questionnaire to complete; medical staff did not intervene in filling it out in any case. The study variables were age (under 30, between 30 and 60 and over 60), sex, patient's pathology (only those with at least 5 cases were assessed), educational level (none, primary school qualification, intermediate studies and university studies), presence of a computer at home (yes/no), knowledge of the existence of internet (yes/no), searches performed on urological conditions and influence of these consultations in their relationship with their doctor. The relationship between the use of internet and the different variables was evaluated using the Kruskall-Wallis test. A probability of the null hypothesis less than 0.05 was considered significant. RESULTS: A total of 1,111 questionnaires were received, of which 1,062 were useful for processing. The mean age was 60.98 with a standard error of 15.08. 18.4% were women. The population distribution by level of studies was: 22.2% uneducated, 43.5% with primary education qualification, 27.5% with intermediate educational level and 6.8% university graduates. 58.4% of patients denied having a computer at home, 37.7% do not know what internet is, 76.7% do not have an e-mail address and just 6.7% visit medical pages, although only 1.5% admit having asked their doctor about information received on internet. According to classification by age, patients under 30 have significantly greater knowledge of computers and internet (p<0.001). However, there were no significant differences shown between the age and the fact of asking about information received through internet (p=0.1). The most visited web pages were, in order of the most to least visited: tuotromedico.com, varicocele.com, aecc.es, wikipedia.com, prostatitis.org, ondasalud.com and mapfrecajasalud.com. The most searched for conditions were: chronic prostatitis (25% of patients affected), testicular cancer (20% of patients), varicocele (18.7%), Peyronie's disease or congenital penile curvature (18.1%) and stenosis of the pyeloureteral junction (16.6%). CONCLUSIONS: --The exploitation of the internet as an information tool on the part of patients is very low, due to the characteristics inherent to our population, such as the low level of studies. --Urological web pages should dedicate an extensive part to the most common conditions in the younger population groups, such as varicocele or prostatitis. However, it is logical to expect that these epidemiological patterns will modify with time. --The use of internet and computers in general should be promoted among the different population groups in the health area under study.
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Internet/estatística & dados numéricos , Doenças Urológicas , Feminino , Hospitais , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Inquéritos e QuestionáriosRESUMO
BACKGROUND AND OBJECTIVE: Erectile dysfunction (ED) is caused by a large range of organic, psychological, psychiatric, interpersonal and pharmacological factors. Numerous scientific publications mention the loss of self-esteem as a collateral effect of ED, with a very probable affectation of the subject's self-confidence. The objective of this study was to evaluate the self-esteem and self-confidence of subjects with ED and to compare them with a group of non-ED subjects. SUBJECTS AND METHOD: An epidemiological, cross-sectional, observational, comparative and multicentric study was conducted. General Practitioners selected 405 men older than 18 years in which they suspected ED. All the participants had to complete the self administered form of the Spanish version of the Rosenberg self-esteem scale and the Spanish culturally adapted version of the Johnson and McCoy self-confidence scale. After that, patients were referred to the urologist in order to confirm the ED diagnosis. RESULTS: The statistical analysis of the data showed that the subjects with ED obtained significantly lower scores in the self-confidence and self-esteem scales than the non-ED subjects (p < 0.01). DISCUSSION: The results of this study show the loss of self-confidence and self-esteem that suffer patients with ED.
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Disfunção Erétil/psicologia , Autoimagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids, leading to kidney stone formation. Incidence of cystinuria in the Mediterranean Spanish population is one of the highest in the world. In view of the low prevalence of previously reported mutations in the SLC3A1 gene, analyses to identify novel variants were carried out on 20 cystinuria families. Additionally, we investigated the possible association between these molecular variants and clinical phenotypes. Genomic DNA from 48 cystinuria patients, 44 healthy relatives and 81 unrelated controls from the East Mediterranean coast of Spain was screened by conformation sensitive gel electrophoresis. Abnormal patterns were confirmed by nucleotide sequence determination and by further restriction fragment-length polymorphism. We only found 11 genetic variants within the SLC3A1 gene: five known polymorphisms (114C > A, 231T > A, 1136 + 3delT, 1332 + 7T > C and 1338G > A), four point mutations (M467T, R452W, I105R and Y461X), one single base pair deletion (1767delA) and one 2-bp insertion (1670insAT). Two of these genetic variants (I105R and 1670insAT) were described for the first time. All mutations but one were detected in families classified as Type I cystinuria due to the transmission pattern of the disease. Association analyses revealed that 231T > A (M467T), 1136 + 3delT and 1332 + 7T > C genetic variants were statistically related with urinary amino acid excretion in cystinuria patients. Although some molecular variants within the SLC3A1 gene were associated with clinical traits in cystinuria patients, the low detection rate of mutations in this gene strongly suggests that variation of the SLC3A1 is not the major genetic factor contributing to cystinuria in this Mediterranean population.
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Sistemas de Transporte de Aminoácidos Básicos/genética , Sistemas de Transporte de Aminoácidos Neutros/genética , Cistinúria/genética , Cistinúria/patologia , Variação Genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , EspanhaRESUMO
OBJECTIVES: To evaluate the influence of different therapeutic options on progression-free survival (PFS), overall survival (OS) and specific survival (SS) in a cohort of 454 patients with localized prostatic carcinoma, taking into account different prognostic factors, and to compare our results to those reported in the world literature. MATERIAL AND METHODS: Between 1983 and 2000 we have diagnosed 706 new cases of prostatic carcinoma and 454 were clinically localized tumors. The different therapeutic options employed in our series of patients have been: follow-up (FU) (103 patients); radical prostatectomy (RP) (108 patients); radiotherapy without hormonal blockade (RT) (148 patients); and hormonal blockade (HB) (95 patients). We have determined the PFS, the OS and the SS for each group of patients and compared them in patients with different prognostic factors at the time of diagnosis, including age, PSA levels, Gleason's grading and TNM staging. We have also analysed the influence of the tumor progression on the OS. The mean follow-up time has been 5.6 years (range: 0.1-19.2; median: 5.2). RESULTS: For PFS: the disease progressed in 145 patients (32%) and the PFS at 5 and 10 years has been 77% and 67% for FU; 61% and 50% for RP; 63% and 25% for RT; and 73% and 67% for HB, respectively. The differences between RT and RP were not statistically significant. For the subgroup of patients with PSA levels <10 and Gleason <8 the differences between FU, RP and RT did not reach statistical significance. For OS: 126 patients of our series died (28%) and the OS at 5 and 10 years has been 80% and 61% for FU; 90% and 76% for RP; 85% and 67% for RT; and 64% and 32% for HB, respectively. We have found no significant differences between FU, RP and RT. For SS: 31 patients of our series died of disease (6.8%). The SS at 5 and 10 years has been 100% and 94% for FU; 98% and 98% for RP; 97% and 88% for RT; and 83% and 77% for HB, respectively. We have found no significant differences in the OS between patients with disease progression and without disease progression treated with FU, RP and RT. CONCLUSIONS: Determination of PSA levels has allowed diagnosis of prostatic carcinomas in early stages of disease; however, our results and those reported in the literature cannot define which is the best therapeutic option in these patients. We should offer the patients individualized information both in the phase of early diagnosis and of therapeutic decisions.
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Adenocarcinoma/terapia , Neoplasias da Próstata/terapia , Adenocarcinoma/mortalidade , Idoso , Intervalo Livre de Doença , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Neoplasias da Próstata/mortalidade , Taxa de SobrevidaRESUMO
High flow arterial priapism is rare and characterized to a prolonged non-painful partial erection. Arteriocavernous fistula, rarely bilateral, is associated with penile or perineal trauma (genitoperineal area). Review of the literature, in only eleven cases this fistula is bilateral. Different treatments with non common norm has been used. We report a case of a 27 years old male who presented high flow priapism secondary to bilateral postraumatic arterio-cavernous fistula. Autologous blood clot was used for fistulas embolization to minimize the risk of impotence in this young patient. No complications was registered. Eight months later the patient had normal erectile function and no fistula was detected on ultrasonography doppler. We consider arteriography with highly selective embolization using re-absorbable agents obtains the best results, the least risks and complications in this process.
Assuntos
Pênis , Priapismo/terapia , Adulto , Velocidade do Fluxo Sanguíneo , Embolia , Embolização Terapêutica/métodos , Fístula/complicações , Fístula/etiologia , Doenças dos Genitais Masculinos/complicações , Doenças dos Genitais Masculinos/etiologia , Humanos , Masculino , Pênis/irrigação sanguínea , Pênis/lesões , Priapismo/etiologia , Priapismo/fisiopatologia , Fístula Vascular/complicações , Fístula Vascular/etiologiaRESUMO
The vesicogenital fistula are abnormal communications between female genitalia and urinary bladder. We recorded all the vesicogenital fistula diagnosed since 1986, analyzing aetiology, treatment applied, complications and results. Total number of fistula have been 20 (18 vesicovaginal and 2 vesicouterine). The distribution in vesicovaginal fistula was iatrogenic in 15 cases (83%) and tumoral in 3 cases (17%). Vesicouterine fistula were due to cesarean. The initial treatment of the iatrogenic fistula was conservative using foley catheter. Twenty percent of the patients were cured with this treatment (3 cases). Surgical repair was necessary for the other patients, using different surgical approach according to the type of the fistula, intensity and patient age. It was successful in 91% of the patients. The results shows that simple surgical approach generate less morbidity and the early intervention is not less efficient.