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1.
Neurologia (Engl Ed) ; 33(2): 85-91, 2018 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27449154

RESUMO

INTRODUCTION: Glioblastoma is the most common primary brain tumour. Despite advances in treatment, its prognosis remains dismal, with a mean survival time of about 14 months. Many articles have addressed direct costs, those associated with the diagnosis and treatment of the disease. Indirect costs, those associated with loss of productivity due to the disease, have seldom been described. MATERIAL AND METHOD: We conducted a retrospective study in patients diagnosed with glioblastoma at Hospital Universitario Donostia between January 1, 2010 and December 31, 2013. We collected demographics, data regarding the treatment received, and survival times. We calculated the indirect costs with the human capital approach, adjusting the mean salaries of comparable individuals by sex and age and obtaining mortality data for the general population from the Spanish National Statistics Institute. Past salaries were updated to 2015 euros according to the annual inflation rate and we applied a discount of 3.5% compounded yearly to future salaries. RESULTS: We reviewed the records of 99 patients: 46 women (mean age 63.53) and 53 men (mean age 59.94); 29 patients underwent a biopsy and the remaining 70 underwent excisional surgery. Mean survival was 18.092 months for the whole series. The total indirect cost for the series was €11 080 762 (2015). Mean indirect cost per patient was €111 926 (2015). DISCUSSION: Although glioblastoma is a relatively uncommon type of tumour, accounting for only 4% of all cancers, its poor prognosis and potential sequelae generate disproportionately large morbidity and mortality rates which translate to high indirect costs. Clinicians should be aware of the societal impact of glioblastoma and indirect costs should be taken into account when cost effectiveness studies are performed to better illustrate the overall consequences of this disease.


Assuntos
Neoplasias Encefálicas , Efeitos Psicossociais da Doença , Glioblastoma/cirurgia , Hospitais , Neoplasias Encefálicas/economia , Análise Custo-Benefício , Feminino , Glioblastoma/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Taxa de Sobrevida
2.
Rev. andal. med. deporte ; 8(3): 115-129, sept. 2015. tab
Artigo em Espanhol | IBECS | ID: ibc-141661

RESUMO

Las enfermedades cardiovasculares son las más prevalentes en la sociedad occidental. En las últimas décadas, innumerables publicaciones informan del poder terapéutico del ejercicio físico (EF) en estas patologías. El objetivo de este trabajo ha sido buscar, valorar y resumir los resultados de las mejores pruebas científicas publicadas, sobre el efecto del EF, en la mortalidad y morbilidad de pacientes con enfermedad coronaria, insuficiencia cardiaca, hipertensión arterial, claudicación intermitente e ictus. Se buscaron revisiones sistemáticas en Medline, Embase, Cochrane Database of Systematic Reviews y Database of Abstracts of Reviews of Effects. Se concluye que, tanto el entrenamiento aeróbico, como el de fuerza son seguros y eficaces en la disminución de la mortalidad y morbilidad en la mejora de algunos signos y síntomas, y en el incremento de la función física en enfermos cardiovasculares (AU)


Cardiovascular diseases are among the most widespread in Western culture. In recent decades, numerous publications have assessed the effectiveness of physical exercise (PE) in these pathologies. The aim of this study was to search for, evaluate and summarize the results of the most conclusive scientific evidence published on the effectiveness of PE on mortality and morbidity in patients with coronary artery disease, heart failure, hypertension, intermittent claudication, and stroke. We searched for systematic reviews in Medline, Embase, Cochrane Database of Systematic Reviews and Database of Abstracts of Reviews of Effects. In conclusion, both aerobic and strength training are safe and effective in reducing mortality and morbidity, improving signs and symptoms, and increasing physical function in patients with cardiovascular disease (AU)


As doenças cardiovasculares são as mais prevalentes na sociedade ocidental. Nas últimas décadas, inúmeras publicações informaram o poder terapêutico do exercício físico (EF) nestas patologias. O objetivo deste trabalho foi procurar avaliar e resumir os resultados das maiores evidências científicas publicadas sobre o efeito do EF na mortalidade e morbidade de pacientes com doença coronariana, insuficiência cardíaca, hipertensão arterial, claudicação intermitente e ictus. Foi realizada uma busca por revisões sistemáticas nas seguintes bases de dados: Medline, Embase, Cochrane Database of Systematic Reviews y Database of Abstracts of Reviews of Effects. Conclui-se que tanto o treinamento aeróbico como o de força são seguros e eficazes na diminuição da mortalidade e morbidade, na melhora de alguns sinais e sintomas, e no incremento da função física em enfermos cardiovasculares


Assuntos
Feminino , Humanos , Masculino , Doenças Cardiovasculares/reabilitação , Doenças Cardiovasculares/terapia , Medicina Baseada em Evidências/tendências , Exercício Físico , Pesquisa/tendências
3.
Tech Coloproctol ; 18(10): 863-72, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24845110

RESUMO

BACKGROUND: There are different open healing and primary closure approaches for chronic pilonidal sinus (CPD) that differ in principles and extension. AIMS: To compare the results of different closure surgical techniques, we performed a meta-analysis of randomized controlled trials (RCT) comparing: (1) open wide excision versus open limited excision (sinusectomy) or unroofing (sinotomy); (2) midline closure (conventional and tension-free) versus off-midline; (3) advancing versus rotation flaps; and (4) sinusectomy/sinotomy versus primary closure. METHODS: Data extraction and risk of bias assessment were conducted independently by the authors using the Cochrane Collaboration's tool. Data were pooled using fixed and random-effects models. Primary outcomes were rate of healing, recurrence, wound infection and dehiscence. Twenty-five trials (2,949 patients) were included. RESULTS: Four trials compared limited versus radical open healing. Although recurrence rate did not differ, all other outcomes favored the limited approach. Ten studies compared midline versus off-midline primary closure; wound infection and dehiscence were significantly higher after midline closure. Six RCT compared Karydakis/Bascom versus Limberg. No difference was found in recurrence or wound complications rate. Six RCT compared sinusectomy/sinotomy versus primary closure. Recurrence rate was significantly lower after sinusectomy/sinotomy; no significant differences were found in other outcomes. CONCLUSION: Our meta-analysis suggest that some of the questions of which is the best surgical technique for CPD have now been answered: open radical excision and primary midline closure should be abandoned. Sinusotomy/sinectomy or en bloc resection with off midline primary closure are the preferred approaches.


Assuntos
Seio Pilonidal/cirurgia , Técnicas de Fechamento de Ferimentos , Doença Crônica , Humanos , Masculino , Ensaios Clínicos Controlados Aleatórios como Assunto , Região Sacrococcígea , Retalhos Cirúrgicos , Cicatrização/fisiologia
4.
Radiología (Madr., Ed. impr.) ; 54(2): 149-154, mar.-abr. 2012.
Artigo em Espanhol | IBECS | ID: ibc-99849

RESUMO

Objetivo. Calibrar máquinas de RM de 1,5 teslas para la cuantificación de la concentración de hierro en el hígado. Material y métodos. En 28 RM de 1,5 teslas se ha analizado un fantoma con cuatro tubos con diferentes concentraciones de cloruro de hierro III y uno sin hierro, que reproduce a dos pacientes promedio con sobrecarga férrica moderada y alta con las secuencias de un modelo de cuantificación. Se midió para cada tubo la ratio de intensidad de señal con el tubo sin hierro y se calcularon los niveles de concentración teóricos en cada máquina según el modelo para los dos niveles de sobrecarga. Se compararon los resultados con los de la máquina de referencia en la que se habían diseñado el modelo y el fantoma, calculando la diferencia porcentual. Resultados. La diferencia porcentual media de las ratios con respecto a los del centro de referencia fue 11% (0,3-39). La media de los valores de concentración de hierro fue de 71μmol Fe/g para la sobrecarga media, y de 193μmol Fe/g para la sobrecarga alta. La diferencia porcentual media fue del 6% (1,2-37%) y 3,4% (0-16%) respectivamente. En dos máquinas se aplicó un factor de corrección de forma que la diferencia porcentual fue inferior al 25% en todos los casos. Conclusión. Se han calibrado 28 máquinas de 1,5 teslas para la cuantificación de la concentración de hierro en el hígado con una variabilidad menor del 25% (AU)


Objective. To calibrate 1.5 tesla magnetic resonance scanners for the quantification of the concentration of iron in the liver. Material and methods. We analyzed twenty-eight 1.5 tesla magnetic resonance scanners using a phantom with four tubes containing different concentrations of iron (III) chloride and one tube without iron. The phantom represented two typical patients: one with moderate iron overload and one with high iron overload. We measured the signal intensity ratio between each iron-containing tube and the tube without iron; then we calculated the theoretical levels of iron concentration in each scanner according to the model for the two levels of overload. We compared the results of each scanner with those of the reference scanner in which the model and the phantom had been designed, and we calculated the percentage of difference between the two scanners. Results. The mean difference in the ratios compared to the reference center was 11% (0.3-39). The mean concentration of iron was 71μmol Fe/g for moderate overload and 193μmol Fe/g for high overload. The mean difference was 6% (1.2- 7%) and 3.4% (0-16%). respectively. In two scanners, we applied a correction factor so that the difference was below 25% in all cases. Conclusion. We calibrated twenty-eight 1.5 tesla scanners for the concentration of iron in the liver and achieved variability less than 25% (AU)


Assuntos
Humanos , Masculino , Feminino , Ferro/análise , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/tendências , Imageamento por Ressonância Magnética , Hemocromatose , Fígado , 28599
5.
Radiologia ; 54(2): 149-54, 2012.
Artigo em Espanhol | MEDLINE | ID: mdl-22079139

RESUMO

OBJECTIVE: To calibrate 1.5 tesla magnetic resonance scanners for the quantification of the concentration of iron in the liver. MATERIAL AND METHODS: We analyzed twenty-eight 1.5 tesla magnetic resonance scanners using a phantom with four tubes containing different concentrations of iron (III) chloride and one tube without iron. The phantom represented two typical patients: one with moderate iron overload and one with high iron overload. We measured the signal intensity ratio between each iron-containing tube and the tube without iron; then we calculated the theoretical levels of iron concentration in each scanner according to the model for the two levels of overload. We compared the results of each scanner with those of the reference scanner in which the model and the phantom had been designed, and we calculated the percentage of difference between the two scanners. RESULTS: The mean difference in the ratios compared to the reference center was 11% (0.3-39). The mean concentration of iron was 71 µmol Fe/g for moderate overload and 193 µmol Fe/g for high overload. The mean difference was 6% (1.2- 7%) and 3.4% (0-16%). respectively. In two scanners, we applied a correction factor so that the difference was below 25% in all cases. CONCLUSION: We calibrated twenty-eight 1.5 tesla scanners for the concentration of iron in the liver and achieved variability less than 25%.


Assuntos
Ferro/análise , Fígado/química , Imageamento por Ressonância Magnética/normas , Humanos , Imageamento por Ressonância Magnética/instrumentação , Imagens de Fantasmas , Padrões de Referência
6.
Eur J Surg Oncol ; 37(9): 786-90, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21723689

RESUMO

AIMS: To analyse patient survival after the resection of lung metastases from colorectal carcinoma and specifically to verify whether presence of liver metastasis prior to lung metastasectomy affects survival. METHODS: All patients who, between 1998 and 2008, underwent lung metastasectomy due to colorectal cancer were included in the study. Kaplan-Meier survival analysis was performed with the log-rank test and Cox regression multivariate analysis. RESULTS: During this period, 101 metastasectomies were performed on 84 patients. The median age of patients was 65.4 years, and 60% of patients were male. The 30-day mortality rate was 2%, and incidence of complications was 7%. The overall survival was 72 months, with 3-and 5-year survival rates of 70% and 54%, respectively. A total of 17 patients (20%) had previously undergone resection of liver metastasis. No significant differences were found in the distribution of what were supposed to be the main variables between patients with and without previous hepatic metastases. Multivariate analysis identified the following statistically significant factors affecting survival: previous liver metastasectomy (p = 0.03), tumour-infiltrated pulmonary lymph nodes (p = 0.04), disease-free interval ≥ 48 months (p = 0.03), and presence of more than one lung metastasis (p < 0.01). In patients with previous liver metastasis, the shorter the time between primary colorectal surgery and the hepatectomy, the lower the survival rate after pulmonary metastasectomy (p = 0.048). CONCLUSIONS: A previous history of liver metastasis shortens survival after lung metastasectomy. The time between hepatic resection and lung metastasectomy does not affect survival; however, patients with synchronous liver metastasis and colorectal neoplasia have poorer survival rates than those with metachronous disease.


Assuntos
Adenocarcinoma/secundário , Adenocarcinoma/cirurgia , Neoplasias Colorretais/patologia , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/cirurgia , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/cirurgia , Pneumonectomia , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Feminino , Humanos , Neoplasias Pulmonares/mortalidade , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Complicações Pós-Operatórias , Prognóstico , Análise de Sobrevida , Taxa de Sobrevida
7.
Rev Esp Med Nucl ; 30(4): 241-3, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-21334106

RESUMO

Treatment with radioiodine (RDI) has been shown to be an effective option in patients with differentiated thyroid cancer with recurrent or metastatic disease. However, in spite of having elevated levels of thyroglobulin in blood, in some of these patients, the whole body scan does not detect radioiodine uptake due to loss of differentiation of the neoplastic cells, thus leading to loss of efficacy of the treatment. That is why drugs with potential differentiating properties, like rosiglitazone or retinoids, are being studied. The aim of these drugs is to improve RDI uptake by the tumor cells. In this work, we have described the case of a patient in whom uptake of RDI by the pulmonary metastases, with subsequent decrease of their size, was achieved after treatment with rosiglitazone (8 mg/day for 2 months) as redifferentiation therapy.


Assuntos
Radioisótopos do Iodo/metabolismo , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/secundário , Tiazolidinedionas/uso terapêutico , Neoplasias da Glândula Tireoide/patologia , Idoso , Diferenciação Celular/efeitos dos fármacos , Feminino , Humanos , Neoplasias Pulmonares/radioterapia , Rosiglitazona
8.
Pediatr Pulmonol ; 45(5): 434-9, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20425850

RESUMO

BACKGROUND: The aim of this study was to investigate the association among a validated symptom-based questionnaire for asthma control in children (CAN), forced expiratory volume in 1 sec (FEV(1)), and fractional exhaled nitric oxide (FE(NO)). METHODS: Observational cross-sectional study was performed in a consecutive sample of asthmatic children aged between 7 and 14 years old from December 2007 to February 2008. FE(NO) was measured with a portable electrochemical analyzer and forced spirometry was performed according to American Thoracic Society/European Respiratory Society. The CAN questionnaire was completed by the parents (aged <9 years old) or by the children (> or = 9 years old). The strength of the association among FEV(1), FE(NO), and CAN questionnaire was studied using Spearman's rho, and the degree of agreement for asthma control among FEV(1), FE(NO), and CAN questionnaire, with classification of these variables according to values of normality, was studied using Pearson's chi(2) test and Cohen's kappa (KC). RESULTS: We studied 268 children, mean age 9.7 +/- 2.1 years. Significant correlations were found between FE(NO) and CAN (r = 0.2), between FEV(1) and CAN (r = -0.3), and between FE(NO) and FEV(1) (r = -0.12). On classifying the variables according to values of normality, no agreement was found to establish the degree of asthma control between FE(NO) and CAN (KC = 0.18, chi(2) Pearson = 9.63); between FEV(1) and CAN (KC = 0.29, chi(2) = 38.5); or between FE(NO) and FEV(1) (KC = 0.07, chi(2) = 4.9). CONCLUSIONS: The association among the three measurement instruments used to assess asthma control (FEV(1), FE(NO), and CAN) was weak. These are instruments that quantify variables that influence asthma in different ways, in this sense, none can be used instead of another in asthma management although they are complementary.


Assuntos
Asma/tratamento farmacológico , Asma/fisiopatologia , Expiração , Pulmão/fisiologia , Óxido Nítrico/análise , Inquéritos e Questionários , Adolescente , Testes Respiratórios/métodos , Criança , Estudos Transversais , Feminino , Volume Expiratório Forçado , Humanos , Masculino , Estudos Prospectivos , Testes de Função Respiratória , Espirometria/métodos
9.
Emergencias (St. Vicenç dels Horts) ; 21(6): 422-428, dic. 2009. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-87623

RESUMO

Objetivos: La administración rutinaria de oxígeno en el infarto agudo de miocardio(IAM) es una práctica sometida a debate especialmente tras la aparición de una revisión Cochrane de oxígeno vs aire que muestra un importante, aunque no significativo, aumento de la mortalidad (RR: 3,03, IC 95%: 0,93-9,93) en el grupo tratado con oxígeno y concluye que debe realizarse un ensayo clínico aleatorio que ofrezca evidencia definitivas. El objetivo de este estudio es conocer extensión del uso de la oxigenoterapia en el IAM no complicado y las creencias de los clínicos al respecto. Método: Se uso un método combinado de invitación por correo electrónico a una muestra teórica de profesionales que atienden al IAM y un cuestionario a cumplimentaron-line en la web. Resultados: El 86% de los encuestados usan rutinariamente el oxígeno en el IAM no complicado, casi la mitad (44%) cree que mejora el dolor y más de la mitad (54%)cree que tiene algún efecto beneficioso sobre la mortalidad. Casi el 29% de los participantes desconocen las recomendaciones de la guías al respecto. Se aprecian mínimas diferencias en las creencias de los clínicos según su especialidad. Conclusiones: La oxigenoterapia en IAM es una práctica muy extendida, que se justifica en parte por la creencia de que mejora el dolor o/y la mortalidad. La creencia deberá ser tenida en cuenta en los diseños de investigación futuros (AU)


Background and objective: The routine administration of oxygen in acute myocardial infarction (AMI) is a practice open to debate, particularly after a Cochrane review of oxygen vs air showed a no significant but considerable increase in mortality for oxygen-treated patients (relative risk 3.03; 95% confidence interval, 0.93-9.93). The reviewers concluded that a randomized controlled trial was needed to provide definitive evidence. The aim of this study was to know the prevalence of use of oxygen therapy in uncomplicated AMI and the beliefs of physicians about this therapy. Material and methods: Two recruitment methods were combined. Participants were found either through e-mails sent to a theoretical sample of physicians treating AMI, in which they were given a link to the web-based survey, or by means of a posted link to the online survey. Results: Eighty-six percent of the respondents treat AMI with oxygen therapy. Nearly half (44%) believe it relieves pain and over half (54%) believe it reduces mortality. Nearly 29% are unfamiliar with guidelines for oxygen therapy in AMI .Scant differences were found between medical specialties. Conclusions: Oxygen therapy is widely used in AMI. Physicians justify their use by referring to the by a belief that it reduces pain and mortality. Beliefs should be taken into account in designing future research (AU)


Assuntos
Humanos , Infarto do Miocárdio/terapia , Oxigenoterapia , Pesquisas sobre Atenção à Saúde , Internet , Padrões de Prática Médica
10.
Arch Dis Child ; 94(7): 501-5, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19158133

RESUMO

OBJECTIVE: To evaluate potential markers of serious bacterial infection (SBI) in infants under 3 months of age presenting with fever of unknown origin. MATERIAL AND METHODS: We retrospectively studied all infants under 3 months of age seen in the emergency department between January 2004 and December 2006 for a febrile syndrome with no identifiable focus. Clinical data, procalcitonin (PCT), C reactive protein (CRP) and leucocyte count were evaluated for their ability to discriminate between SBI and non-SBI; receiver operating characteristic (ROC) curves were constructed for the laboratory markers and analysis was performed by multivariate logistic regression. RESULTS: The sample comprised 347 patients (23.63% with SBI). Mean PCT, CRP, leucocyte and neutrophil count were significantly higher in the group with SBI unlike the other criteria studied. The area under the ROC curve (AUC) for PCT was 0.77 (95% CI 0.72 to 0.81) and 0.79 for CRP (95% CI 0.75 to 0.84); both these variables were stronger predictors than leucocyte count (0.67, 95% CI 0.63 to 0.73). In the 15 infants with more invasive bacterial infections (sepsis, bacteraemia, bacterial meningitis), the diagnostic value of PCT (AUC 0.84, 95% CI 0.79 to 0.88) was higher than CRP (AUC 0.68, 95% CI 0.63 to 0.73). In infants who had been febrile for under 12 h, the differences between PCT, CRP and leucocyte count were statistically significant in both SBI and non-SBI groups, with increasing predictive value of PCT and decreasing value of CRP. CONCLUSIONS: PCT, CRP, and leucocyte count have intrinsic predictive value for SBI in febrile infants under 3 months of age. The diagnostic value of PCT is greater than CRP for more invasive bacterial infections and for fever of short duration.


Assuntos
Infecções Bacterianas/complicações , Proteína C-Reativa/análise , Calcitonina/sangue , Febre de Causa Desconhecida/etiologia , Precursores de Proteínas/sangue , Peptídeo Relacionado com Gene de Calcitonina , Diagnóstico Diferencial , Serviço Hospitalar de Emergência , Feminino , Humanos , Lactente , Recém-Nascido , Contagem de Leucócitos , Modelos Logísticos , Masculino , Valor Preditivo dos Testes , Curva ROC , Estudos Retrospectivos , Espanha
11.
An Pediatr (Barc) ; 70(1): 3-11, 2009 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-19174113

RESUMO

INTRODUCTION: Reference values for spirometry in healthy preschool children have not yet been obtained in accordance with American Thoracic Society (ATS) and the European Respiratory Society (ERS) guidelines. The objective was to establish reference values for spirometry in healthy preschoolers under the ATS/ERS 2007 statement. MATERIAL AND METHOD: Children of at least 2 and under 7 years of age were tested in 9 pediatric pulmonary function laboratories. The technicians were trained to apply a standardized protocol to perform spirometry. RESULTS: Valid spirometry results were obtained in 455 (81.54%) out of 558 children: 242 boys (53.2%) and 213 girls (46.8%). Ages were as follows: 31 at least 2 and under 3 years old; 96, at least 3 and under 4; 108, at least 4 and under 5; 122, at least 5 and under 6 years, and 98, at least 6 and under 7 years. Formulas were used to calculate the reference values for all the spirometry variables in preschoolers. CONCLUSIONS: Spirometry is feasible in the majority of preschool children under the new guidelines. The availability of the reference values presented is an important step, both for the care of preschoolers and for further research on pulmonary function.


Assuntos
Espirometria , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Valores de Referência
12.
Lab Anim ; 42(1): 19-25, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18348763

RESUMO

Rat serum or plasma creatine kinase (CK) activity is widely used to evaluate myopathic processes, to test the myotoxicity of different drugs, or to analyse the benefits of emerging gene therapies in some neuromuscular disorders. However, great variability is found in this determination. The aim of this study has been to control some factors of variation in order to reduce variability and increase the reproducibility of analytical data. 8-10-week-old Wistar-Han rats were used. The study consisted of four sequential phases. Phase I aimed to analyse the effect of ether and isoflurane as anaesthetic drugs. The objective of Phase II was to evaluate bleeding rats via retro-orbital sinus vs. tail vein. Phases III and IV were designed as two separate, repeated measure experiments on two factors: habituation to laboratory handling procedures in Phase III and gender in Phase IV. The repeated factor was the storage temperature of blood sample prior to centrifugation. Ether did not significantly increased the CK value. Using isoflurane, getting rats accustomed to laboratory handling procedures and whole blood refrigeration prior to centrifugation and serum separation resulted in statistically significant reduction in CK value and variability. Male rats showed significantly higher values than female rats. In the light of our findings, CK value and variability in rats may be minimized by choosing tail vein as site of bleeding, getting rats accustomed to laboratory handling procedures and maintaining whole blood refrigerated until centrifugation and serum separation.


Assuntos
Creatina Quinase/metabolismo , Doenças Neuromusculares/sangue , Animais , Coleta de Amostras Sanguíneas/efeitos adversos , Creatina Quinase/sangue , Feminino , Masculino , Doenças Neuromusculares/metabolismo , Ratos , Ratos Endogâmicos , Refrigeração , Caracteres Sexuais , Manejo de Espécimes/efeitos adversos , Temperatura
13.
Neurogenetics ; 8(3): 201-5, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17351762

RESUMO

A number of association studies have explored the relationship between the CCR5-Delta32 allele and the risk of developing multiple sclerosis (MS), with varying results. In light of the results of several studies that have analyzed the role of the allele in MS, it has been proposed that the allele is involved in the etiopathogeny of the disease. Our study revealed a statistically significant difference between the study group and the control group for the carriers of at least one deleted allele (P = 0.027). The allele was more frequent in the control group, which suggests a possible protective effect of this deletion against MS. When ethnic origin was taken into account in the same analysis, we saw that the bulk of the difference was attributable to the Basque group, although the trend was also visible in the control group. Consideration of ethnic origin is therefore essential for the analysis of our sample. CCR5-Delta32 allele distribution was higher in the Basque control population than in the Basque MS population, which suggests that it confers a protective effect against MS. Relevant values were a P value of 0.008 and an odds ratio of 0.168 (95% confidence interval, 0.038 to 0.737).


Assuntos
Esclerose Múltipla Crônica Progressiva/genética , Esclerose Múltipla Recidivante-Remitente/genética , Esclerose Múltipla/genética , Polimorfismo de Nucleotídeo Único , Receptores CCR5/genética , Deleção de Sequência , Mapeamento Cromossômico , Etnicidade , Genótipo , Humanos , Esclerose Múltipla/epidemiologia , Valores de Referência , Espanha
14.
Neurobiol Aging ; 28(12): 1941-3, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17011669

RESUMO

Alzheimer's disease (AD) is the most common dementing disorder and presents with a progressive and irreversible cognitive decline of gradual onset. To date, several reports have involved iron in AD physiopathology. In this study, we have analysed TFC2 variant and HFE mutations (H63D and C282Y) in 211 AD patients and 167 controls recruited from an area of the Basque Country. Furthermore, we have studied APOE genotype as it is a well-known risk factor for AD. APOE epsilon 4 allele was associated with an increased risk of AD and an earlier age at onset, whereas no association was found between TFC2 or HFE C282Y mutation and disease susceptibility. The frequency of H63D mutation was higher in control population (29.9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included.


Assuntos
Doença de Alzheimer/epidemiologia , Doença de Alzheimer/genética , Antígenos de Histocompatibilidade Classe I/genética , Distúrbios do Metabolismo do Ferro/epidemiologia , Distúrbios do Metabolismo do Ferro/genética , Proteínas de Membrana/genética , Medição de Risco/métodos , Transferrina/genética , Idoso , Comorbidade , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Proteína da Hemocromatose , Humanos , Masculino , Prevalência , Fatores de Risco , Espanha/epidemiologia
15.
Neurosci Lett ; 406(3): 235-9, 2006 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-16904828

RESUMO

Parkinson's disease (PD) is the second most common age-related neurodegenerative disease after Alzheimer's disease (AD). Common risk factors for both diseases have been explored to study potential etiologic interactions between these two neurodegenerative disorders. The APOE epsilon4 allele, previously associated with AD, has also been associated with risk of PD and with the presence of some clinical features in PD patients. However, the role of APOE epsilon4 allele in risk of PD remains unclear. We studied the distribution of APOE alleles in 276 unrelated familial and sporadic PD patients and in 212 controls. Patients and controls were classified by ethnicity. No genetic heterogeneity between Basques and people from other regions of Spain was found. No significant differences in APOE allele distribution between PD patients and controls were found; however, lower epsilon4 allele frequency was observed when the sporadic PD group was analyzed separately. By contrast, an increase in epsilon4 allele frequency was found in familial PD patients with cognitive decline. We conclude that the APOE epsilon4 allele may be associated with the risk of developing PD in isolated cases and that it is linked to the presence of cognitive decline in familial PD in our sample.


Assuntos
Apolipoproteínas E/genética , Saúde da Família , Doença de Parkinson/genética , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Alelos , Apolipoproteína E4 , Feminino , Frequência do Gene , Humanos , Masculino , Doença de Parkinson/fisiopatologia , Polimorfismo Genético , Risco
16.
Eur J Clin Nutr ; 60(5): 605-9, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16391575

RESUMO

OBJECTIVE: To assess the status of vitamin D and the effects of calcium and vitamin D3 supplementation on the bone metabolism in a group of adults with Down's syndrome (DS). DESIGN: Randomized, parallel, controlled and open clinical trial. SETTING: Institution for mentally handicapped: Fundación Uliazpi, Diputación Foral de Guipúzcoa, San Sebastián, Spain. SUBJECTS: A total of 23 persons with DS, residents at the Uliazpi Foundation were recruited and all completed the study. INTERVENTION: In all, 12 participants were randomly allocated to receive 1 g of calcium and 800 IU of vitamin D once daily for 1 year while 11 were assigned to the control group, receiving no supplementation. RESULTS: We found no differences between groups regarding serum calcium and phosphorous levels. The remaining parameters showed differences between the two groups consistent with a beneficial effect of the intervention: serum levels of parathyroid hormone, osteocalcin and crosslaps diminished while serum 25 OH vitamin D3 level increased. CONCLUSIONS: The results obtained allow to include people with DS as a risk group with regards to vitamin D deficit, which that can be corrected with vitamin D and calcium supplementation, and giving rise to an improvement of the biochemical markers related to the phospho-calcium metabolism and bone remodelling.


Assuntos
Densidade Óssea/efeitos dos fármacos , Osso e Ossos/efeitos dos fármacos , Cálcio da Dieta/farmacologia , Síndrome de Down , Vitamina D/farmacologia , Adulto , Osso e Ossos/metabolismo , Calcifediol/sangue , Cálcio/sangue , Cálcio/deficiência , Cálcio da Dieta/administração & dosagem , Suplementos Nutricionais , Síndrome de Down/sangue , Síndrome de Down/metabolismo , Feminino , Humanos , Institucionalização , Masculino , Osteocalcina/sangue , Osteoporose/prevenção & controle , Hormônio Paratireóideo/sangue , Fósforo/sangue , Vitamina D/administração & dosagem , Vitamina D/sangue , Deficiência de Vitamina D/prevenção & controle
17.
Arch Dis Child Fetal Neonatal Ed ; 90(4): F328-f331, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15871987

RESUMO

BACKGROUND: Current recommendations for obtaining blood from neonates advise avoidance of the midline area of the heel and are based on postmortem studies. OBJECTIVE: Because of the potential pain and tissue damage from repeated heel pricking in the same area, to investigate using ultrasonography whether the distance from skin to calcaneus is less at the midline than at the borders. METHODS: One hundred consecutive healthy preterm and 105 consecutive healthy term neonates were studied 48-72 hours after delivery. The skin to perichondrium distance (SPD) was measured on two occasions by ultrasound at the external, midline, and internal areas of the heel. FINDINGS: Mean SPD was 0.2 mm less at the midline than at the other sites. The proportion of measurements <3 mm at any of the three sites was the same. Depth was <3 mm in less than 3% of the term and approximately 20% of the preterm infants. The SPD correlated only with gestational age. Of children <33 weeks gestational age, 38% had an SPD <3 mm compared with 8% of older preterm infants. The proportions of preterm infants of > or = 33 weeks gestation and term infants with an SPD <3 mm were similar (8% v 3%). INTERPRETATION: With the use of automated lancets of 2.2 mm length or less, the whole heel plantar surface is safe for obtaining blood in term and preterm infants of > or = 33 weeks gestation. This means that soft tissue damage and pain from repeated pricking in the same area can be reduced.


Assuntos
Coleta de Amostras Sanguíneas/métodos , Calcâneo/anatomia & histologia , Recém-Nascido , Pele/anatomia & histologia , Antropometria/métodos , Calcâneo/diagnóstico por imagem , Feminino , Idade Gestacional , Calcanhar/anatomia & histologia , Calcanhar/diagnóstico por imagem , Humanos , Recém-Nascido Prematuro , Masculino , Variações Dependentes do Observador , Pele/diagnóstico por imagem , Ultrassonografia
18.
Mult Scler ; 10(5): 532-5, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15471369

RESUMO

Previous studies have suggested that mitochondrial metabolism and/or mitochondrial DNA (mtDNA) could be, in conjunction with other genetic or environmental factors, a risk factor for the development of multiple sclerosis (MS). One of these studies establishes that mitochondrial haplogroup JT is a risk factor for developing the disease, in particular the visual manifestations [optic neuritis (ON)]. Nevertheless, as distribution of these haplogroups varies between populations, the observed association may be due to a slanted sample with no physiopathological value. This hypothesis was checked with MS patients, originals from Basque country (this population has peculiar genetic characteristics) and from other Spanish regions. We concluded that such an association does not exist. By contrast, a decrease could be seen in the frequency of the JT haplogroup in the ON group and in the MS-Basque group. That trend could be a protective effect, which needs to be verified in further investigations.


Assuntos
DNA Mitocondrial/genética , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Adulto , Idoso , Feminino , Predisposição Genética para Doença/epidemiologia , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Neurite Óptica/epidemiologia , Neurite Óptica/genética , Mutação Puntual , Fatores de Risco , Espanha/epidemiologia
19.
Nefrologia ; 24(2): 131-41, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15219088

RESUMO

OBJECTIVE: The aim of our study is to analyze the clinic characteristics and evolution of the primary reflux in infants. METHODS: We studied retrospectively 203 infants in our hospital, diagnosed of severe primary renal reflux. Renal ecography and cyclic mictional cystography were practiced in all cases. DMSA was carried out in 181 patients. RESULTS: Renal reflux was unilateral in the 23% of the patients, and bilateral in the remaining cases; 72% of the renal reflux were grade IV and 28% grade V. The renal injuries affected to male infants and reflux grade V. The renal injury was focal (27%), global (44%) and atrophic (29%). The 79% of the patients had conservative treatment, while 21% had surgical treatment. 100% infants with surgical treatment and 94.2% infants with conservative treatment were recovered (Test of Kaplan-Meier). The 27% of patients developed one or several urinary infections, but progression of old renal injuries or formation of new ones, were exceptional (3 cases): While the time the study lasted none of the patients developed chronic renal failure nor arterial hypertension. CONCLUSIONS: 1) The fetal severe primary reflux of the patients was characterized by the following features: to be bilateral reflux, to affect mainly to male infants and to be associated in 33% of cases with a severe renal injury of congenital origin (renal displasia) most of them unilateral. 2) The natural evolution of the reflux goes to spontaneous recovery, so treatment must be conservative. 3) Some patients underwent urinary infections, but progression or formation of new renal injuries were inusual. None of the patients had terminal renal failure nor hypertension and 4) Risk patients would be male infants with bilateral injuries although these are infrequent.


Assuntos
Refluxo Vesicoureteral/epidemiologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Rim/anormalidades , Testes de Função Renal , Tábuas de Vida , Masculino , Nitrofurantoína/uso terapêutico , Radiografia , Remissão Espontânea , Estudos Retrospectivos , Resultado do Tratamento , Combinação Trimetoprima e Sulfametoxazol/uso terapêutico , Ultrassonografia , Infecções Urinárias/epidemiologia , Infecções Urinárias/etiologia , Infecções Urinárias/prevenção & controle , Refluxo Vesicoureteral/diagnóstico por imagem , Refluxo Vesicoureteral/terapia
20.
Nefrología (Madr.) ; 24(2): 131-141, mar. 2004.
Artigo em Es | IBECS | ID: ibc-32217

RESUMO

Objetivos: Analizar las características clínicas y la evolución del reflujo vesicoureteral primario severo del lactante.Paciente y métodos: Se estudiaron retrospectivamente, 203 lactantes menores de 12 meses, diagnosticados de reflujo primario severo (grado IV y V). En todos los casos se realizó una ecografía renal y una cistografía miccional cíclica. En 181 se practicó además un DMSA.Resultados: El reflujo era unilateral en el 23 por ciento de los pacientes y bilateral en el 77 por ciento restante. El 72 por ciento de ellos eran grado IV y el 28 por ciento grado V. Al diagnóstico, en el 34 por ciento de los pacientes se detectó una lesión renal, la cual era unilateral en casi todos (94 por ciento). La lesión renal igual que el reflujo, ocurrió fundamentalmente en los varones (73 por ciento) y en los riñones con reflujo grado V (80 por ciento). La lesión renal era focal en el 27 por ciento de los casos, global en el 44 por ciento y atrófica en el 29 por ciento. El 79 por ciento de los paciente recibieron tratamiento conservador y el 21 por ciento restante, tratamiento quirúrgico. El 100 por ciento de los reflujos tratados quirúrgicamente se curaron. En los tratados de forma conservadora, se estimó que la curación espontánea de los mismos se producía en el 94,2 por ciento de los pacientes (test de Kaplan-Meier). El 27 por ciento de los pacientes desarrollaron uno o varios episodios de infección urinaria en el seguimiento, a pesar de lo cual la progresión de las lesiones iniciales y/o la formación de nuevas cicatrices fue excepcional (3 casos). Durante el tiempo que duró el estudio, ningun paciente de los estudiados, desarrolló una insuficiencia renal y/o una hipertensión arterial.Conclusiones: 1) Los pacientes estudiados presentaban un reflujo primario severo fetal caracterizado por: ser preferentemente bilateral, incidir sobre todo en el varón y asociarse en 1/3 de los casos a una lesión renal que en la mayoría tenía un origen congénito (displasia renal), que casi siempre era unilateral y que ocurría casi siempre en los reflujos más severos. 2) La historia natural del reflujo es hacia la curación espontánea, por lo que el tratamiento en principio debe ser conservador. 3) A pesar de que algunos pacientes cursaron con infecciones urinarias la progresión de la lesión inicial y/o la formación de nuevas cicatrices fue excepcional. Ningún paciente presentó insuficiencia renal ni hipertensión arterial, y 4) Los pacientes de riesgo serían los varones, con lesión renal bilateral, los cuales son muy poco frecuentes (AU)


Assuntos
Recém-Nascido , Lactente , Humanos , Masculino , Feminino , Estudos Retrospectivos , Rim , Refluxo Vesicoureteral , Infecções Urinárias , Combinação Trimetoprima e Sulfametoxazol , Resultado do Tratamento , Nitrofurantoína , Remissão Espontânea , Seguimentos , Tábuas de Vida , Infecções Urinárias , Testes de Função Renal
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