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2. Un nuevo enfoque en el análisis de la litiasis urinaria en función de la combinación de sus componentes: experiencia con 7.949 casos

Author

Millán, F., Gracia, S., Sánchez-Martín, F.M., Angerri, O., Rousaud, F., and Villavicencio, H.

Subjects
Microscopía estereoscópica, Epidemiology, Stereoscopic microscopy, Litiasis, Epidemiología, Análisis de la litiasis, Lithiasis, Stone analysis
Abstract

Objetivo: Evaluar un nuevo enfoque en el análisis de la litiasis urinaria en función de la combinación de sus componentes. Material y métodos: Se analizaron un total de 7.949 litiasis y sus componentes principales y combinaciones, y se clasificaron en función del sexo y la edad. El análisis estadístico fue mediante el test de ji cuadrado. Resultados: Oxalato cálcico monohidrato (OCM) fue el componente más frecuente en hombres (39%) y mujeres (37,4%), seguido de oxalato cálcico dihidrato (OCD) (28%) y ácido úrico (URI) (14,6%) en hombres y de fosfato (FOS) (22,2%) y OCD (19,6%) en mujeres (p=0,0001). En la gente joven OCD y FOS fueron los componentes más frecuentes en hombres y mujeres, respectivamente (p=0,0001). En los pacientes mayores OCM y URI (por este orden) fueron los componentes más frecuentes en ambos sexos (p=0,0001). OCM es oxalatodependiente y está relacionado con las dietas de alto contenido en oxalato y baja ingesta de agua. El aumento progresivo de URI con la edad se relaciona principalmente con el sobrepeso y el síndrome metabólico. Respecto a la combinación de componentes, las más frecuentes fueron OCM (26,3%), OCD+Apatita (APA) (15,5%), URI (10%) y OCM+OCD (7,5%) (p=0,0001). Conclusiones: Este estudio presenta no sólo la composición de las litiasis, sino también las principales combinaciones de componentes en función de la edad y el sexo. Los resultados muestran que la composición de la litiasis está relacionada con los cambios en los hábitos dietéticos y de estilo de vida que ocurren durante la vida, y la estructura morfológica de las litiasis es indicativa de los mecanismos etiopatogénicos. Objective: To evaluate a new approach to urinary stone analysis according to the combination of the components. Materials and methods: A total of 7949 stones were analysed and their main components and combinations of components were classified according to gender and age. Statistical analysis was performed using the chi-square test. Results: Calcium oxalate monohydrate (COM) was the most frequent component in both males (39%) and females (37.4%), followed by calcium oxalate dihydrate (COD) (28%) and uric acid (URI) (14.6%) in males and by phosphate (PHO) (22.2%) and COD (19.6%) in females (p=0.0001). In young people, COD and PHO were the most frequent components in males and females respectively (p=0.0001). In older patients, COM and URI (in that order) were the most frequent components in both genders (p=0.0001). COM is oxalate dependent and is related to diets with a high oxalate content and low water intake. The progressive increase in URI with age is related mainly to overweight and metabolic syndrome. Regarding the combinations of components, the most frequent were COM (26.3%), COD+Apatite (APA) (15.5%), URI (10%) and COM+COD (7.5%) (p=0.0001). Conclusions: This study reports not only the composition of stones but also the main combinations of components according to age and gender. The results prove that stone composition is related to the changes in dietary habits and life-style that occur over a lifetime, and the morphological structure of stones is indicative of the aetiopathogenic mechanisms.

Published
2011

4. Mineral and bone disease - CKD 1-5

Author

Loh, Z. Y., primary, Yap, C. W., additional, Anantharaman, V., additional, How, P., additional, Hirata, M., additional, Aizawa, K., additional, Yogo, K., additional, Tashiro, Y., additional, Takeda, S., additional, Endo, K., additional, Fukagawa, M., additional, Serizawa, K.-I., additional, Fujii, H., additional, Kono, K., additional, Nakai, K., additional, Goto, S., additional, Shinohara, M., additional, Kitazawa, R., additional, Kitazawa, S., additional, Nishi, S., additional, Oruc, A., additional, Korkmaz, S., additional, Bal, O., additional, Yilmaztepe Oral, A., additional, Ersoy, A., additional, Gullulu, M., additional, Ketteler, M., additional, Martin, K., additional, Amdahl, M., additional, Cozzolino, M., additional, Goldsmith, D., additional, Sharma, A., additional, Khan, S., additional, Chitalia, N., additional, Afzali, B., additional, Edozie, F., additional, Manghat, P., additional, Wierzbicki, A., additional, Hampson, G., additional, Corradini, M., additional, Iannuzzella, F., additional, Manenti, L., additional, Ciarrocchi, A., additional, Albertazzi, L., additional, Somenzi, D., additional, Pasquali, S., additional, Calabria Baxmann, A., additional, Barcellos Menon, V., additional, Froeder, L., additional, Medina-Pestana, J. O., additional, Barbosa Carvalho, A., additional, Pfeferman Heilberg, I., additional, Sola, L., additional, De Souza, N., additional, Flores, J., additional, Perico, N., additional, Yuste, C., additional, Garcia DE Vinuesa, M. S., additional, Luno, J., additional, Goicoechea, M. A., additional, Barraca, D., additional, Panizo, N., additional, Quiroga, B., additional, Kim, S. M., additional, Kwon, S. K., additional, Kim, H.-Y., additional, Cournoyer, S., additional, Bell, R., additional, Berbiche, D., additional, Menard, L., additional, Viaene, L., additional, Evenepoel, P., additional, Meijers, B., additional, Overbergh, L., additional, Mathieu, C., additional, Pasquali, M., additional, Rotondi, S., additional, Conte, C., additional, Pirro, G., additional, Mazzaferro, S., additional, Frasheri, A., additional, Marangella, M., additional, Tartaglione, L., additional, Park, J.-S., additional, Koo, T. Y., additional, Kim, G.-H., additional, Kang, C. M., additional, Lee, C.-H., additional, Hiemstra, T. F., additional, Casian, A., additional, Boraks, P., additional, Jayne, D., additional, Schoenmakers, I., additional, Schmiedeke, B., additional, Niemann, M., additional, Schmiedeke, D., additional, Davydenko, I., additional, Emmert, A., additional, Pilz, S., additional, Obermayer-Pietsch, B., additional, Weidemann, F., additional, Breunig, F., additional, Wanner, C., additional, Drechsler, C., additional, Shiizaki, K., additional, Ito, C., additional, Onishi, A., additional, Nakazawa, E., additional, Ogura, M., additional, Kusano, E., additional, Ermolenko, V., additional, Mikhaylova, N., additional, Vartanjan, K., additional, Levchuk, D., additional, Dobrina, E., additional, Capusa, C., additional, Stancu, S., additional, Maria, D., additional, Vladu, I., additional, Barsan, L., additional, Garneata, L., additional, Mota, E., additional, Mircescu, G., additional, Ilyes, A., additional, Dorobantu, N., additional, Petrescu, L., additional, Martinez-Gallardo, R., additional, Ferreira, F., additional, Garcia-Pino, G., additional, Luna, E., additional, Caravaca, F., additional, De Jager, D. J., additional, Grootendorst, D. C., additional, Postmus, I., additional, De Goeij, M. C. M., additional, Boeschoten, E. W., additional, Sijpkens, Y. W. J., additional, Dekker, F. W., additional, Halbesma, N., additional, Wuthrich, R. P., additional, Covic, A., additional, Gaillard, S., additional, Rakov, V., additional, Louvet, L., additional, Buchel, J., additional, Steppan, S., additional, Passlick-Deetjen, J., additional, Massy, Z. A., additional, Akalin, N., additional, Altiparmak, M. R., additional, Trabulus, S., additional, Yalin, A. S., additional, Seyahi, N., additional, Ataman, R., additional, Serdengecti, K., additional, Donate-Correa, J., additional, Martinez-Sanz, R., additional, Muros-de-Fuentes, M., additional, Garcia, J., additional, Garcia, P., additional, Cazana, V., additional, Mora-Fernandez, C., additional, Navarro-Gonzalez, J. F., additional, Berutti, S., additional, Marranca, D., additional, Soragna, G., additional, Erroi, L., additional, Migliardi, M., additional, Belloni, L., additional, Parmeggiani, M., additional, Camerini, C., additional, Pezzotta, M., additional, Zani, R., additional, Movilli, E., additional, Cancarini, G., additional, Anwar, S., additional, Pruthi, R., additional, Kenchayikoppad, S., additional, Reyes, J., additional, Dasilva, I., additional, Furlano, M., additional, Calero, F., additional, Montanes, R., additional, Ayasreh, N., additional, Del Pozo, M., additional, Estorch, M., additional, Rousaud, F., additional, Ballarin, J. A., additional, Bover, J., additional, Resende, A., additional, Dias, C. B., additional, Dos Reis, L., additional, Jorgetti, V., additional, Woronik, V., additional, Panuccio, V., additional, Enia, G., additional, Tripepi, R., additional, Cutrupi, S., additional, Pizzini, P., additional, Aliotta, R., additional, Zoccali, C., additional, Yildiz, I., additional, Sagliker, Y., additional, Demirhan, O., additional, Tunc, E., additional, Inandiklioglu, N., additional, Tasdemir, D., additional, Acharya, V., additional, Zhang, L., additional, Golea, O., additional, Sabry, A., additional, Ookalkar, D., additional, Radulescu, D., additional, Ben Maiz, H., additional, Chen, C. H., additional, Rome, J. P., additional, Benzegoutta, M., additional, Paylar, N., additional, Eyupoglu, K., additional, Karatepe, E., additional, Esenturk, M., additional, Yavascan, O., additional, Grzegorzevska, A., additional, Shilo, V., additional, M-Mazdeh, M., additional, Francesco, R. C., additional, Gouda, Z., additional, Adam, S. M., additional, Emir, I., additional, Ocal, F., additional, Usta, E., additional, Kiralp, N., additional, Sagliker, C., additional, S Ozkaynak, P., additional, Sagliker, H. S., additional, Bassuoni, M., additional, El-Wakil, H. S., additional, Akar, H., additional, Yenicerioglu, Y., additional, Kose, E., additional, and Sekin, O., additional

Published
2012
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6. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

Author

Gasparini P, Mj, Calonge, Bisceglia L, Purroy J, Dianzani I, Angelantonio Notarangelo, Rousaud F, Gallucci M, Testar X, and Ponzone A

Subjects
Cystinuria, Polymorphism, Genetic, Base Sequence, Genotype, Molecular Sequence Data, DNA, Original Articles, Genetic Heterogeneity, Phenotype, Italy, Spain, Mutation, Humans, Alleles, Polymorphism, Single-Stranded Conformational
Abstract

A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA has been analyzed by an accurate and sensitive method able to detect nucleotide changes. Because of the lack of information available on the genomic structure of rBAT gene, the study was carried out using the sequence data so far obtained by us. More than 70% of the entire coding sequence and 8 intron-exon boundaries have been analyzed. Four new mutations and seven intragenic polymorphisms have been detected. All mutations so far identified in rBAT belong only to cystinuria type I alleles, accounting for approximately 44% of all type I cystinuric chromosomes. Mutation M467T is the most common mutated allele in the Italian and Spanish populations. After analysis of 70% of the rBAT coding region, we have detected normal sequences in cystinuria type II and type III chromosomes. The presence of rBAT mutated alleles only in type I chromosomes of homozygous (type I/I) and heterozygous (type I/III) patients provides evidence for genetic heterogeneity where rBAT would be responsible only for type I cystinuria and suggests a complementation mechanism to explain the intermediate type I/type III phenotype.

7. Cystinuria type I: identification of eight new mutations in SLC3A1.

Author

Bisceglia, Luigi, Purroy, Jesús, Jiménez-Vidal, Maite, D'Adamo, Adamo P., Rousaud, Ferran, Beccia, Ercole, Penza, Rosa, Rizzoni, Gianfranco, Gallucci, Michele, Palacín, Manuel, Gasparini, Paolo, Nunes, Virginia, Zelante, Leopoldo, Bisceglia, L, Purroy, J, Jiménez-Vidal, M, d'Adamo, A P, Rousaud, F, Beccia, E, and Penza, R

Subjects
*CYSTINURIA, *GENETIC mutation, *COMPARATIVE studies, *GENES, *RESEARCH methodology, *MEDICAL cooperation, *NUCLEOTIDES, *RESEARCH, *EVALUATION research, *MEMBRANE transport proteins
Abstract

Background: Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in obligate heterozygotes. The SLC3A1 gene coding for an amino acid transporter named rBAT is responsible for type I cystinuria, whereas the SLC7A9 gene coding for a subunit (b0,+AT) of rBAT is involved in determining non-type I (types II and III) cystinuria.Methods: The SLC3A1 gene sequence was investigated in a sample of seven type I/type I, three type I/non-type I, six type I/untyped, and four untyped unrelated cystinuric patients by RNA single-strand conformation polymorphism (RNA-SSCP).Results: Eight new point mutations (S168X, 765+1G>T, 766-2A>G, R452Q, Y461X, S547W, L564F, and C673W) and seven previously reported mutations were detected. These new mutations increase the number of mutated alleles so far characterized in SLC3A1 to 62.Conclusions: We have found SLC3A1 mutations in 0.739 of the type I chromosomes studied. The relatively high proportion of uncharacterized type I chromosomes suggests either that there may be mutations not yet found in SLC3A1 or that many of the assigned type I chromosomes in mixed type I/non-type I patients may have mutations in SLC7A9. If the hypothesis is excluded in the future, we believe that a third gene may be involved in cystinuria. [ABSTRACT FROM AUTHOR]

Published
2001
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8. Gene symbol: SLC3A1. Disease: Cystinuria.

Author

Nunes V, Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, and Nunes V

Subjects
Amino Acid Substitution, Humans, Cystinuria genetics, Mutation, Missense
Published
2005

9. rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

Author

Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, and Chillarón J

Subjects
Absorption, Amino Acid Sequence, Animals, Blotting, Western, Carrier Proteins genetics, Cell Membrane chemistry, Cystinuria genetics, Dimerization, Electrophoresis, Polyacrylamide Gel, Humans, Immunosorbent Techniques, Kidney Tubules, Proximal chemistry, Kidney Tubules, Proximal ultrastructure, Membrane Glycoproteins genetics, Mice, Microvilli chemistry, Molecular Sequence Data, Mutation, Amino Acid Transport Systems, Basic, Carrier Proteins chemistry, Carrier Proteins physiology, Cystine metabolism, Kidney Tubules, Proximal metabolism, Membrane Glycoproteins chemistry, Membrane Glycoproteins physiology
Abstract

Mutations in the rBAT and b(0,+)AT genes cause type I and non-type I cystinuria, respectively. The disulfide-linked rBAT-b(0,+)AT heterodimer mediates high-affinity transport of cystine and dibasic amino acids (b(0,+)-like activity) in heterologous cell systems. However, the significance of this heterodimer for cystine reabsorption is unknown, as direct evidence for such a complex in vivo is lacking and the expression patterns of rBAT and b(0,+)AT along the proximal tubule are opposite. We addressed this issue by biochemical means. Western blot analysis of mouse and human kidney brush-border membranes showed that rBAT and b(0,+)AT were solely expressed as heterodimers of identical size and that both proteins coprecipitated. Moreover, quantitative immunopurification of b(0,+)AT followed by SDS-PAGE and mass spectrometry analysis established that b(0,+)AT heterodimerizes exclusively with rBAT. Together with cystine reabsorption data, our results demonstrate that a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption. As a corollary of the above, there should be an excess of rBAT expression over that of b(0,+)AT protein in the kidney. Indeed, complete immunodepletion of b(0,+)AT did not coprecipitate >20-30% of rBAT. Therefore, another rBAT-associated subunit may be present in latter parts of the proximal tubule.

Published
2002
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10. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Author

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, and Ponzone A

Subjects
Alleles, Base Sequence, DNA analysis, Genotype, Humans, Italy, Molecular Sequence Data, Phenotype, Polymorphism, Single-Stranded Conformational, Spain, Cystinuria genetics, Genetic Heterogeneity, Mutation, Polymorphism, Genetic
Abstract

A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA has been analyzed by an accurate and sensitive method able to detect nucleotide changes. Because of the lack of information available on the genomic structure of rBAT gene, the study was carried out using the sequence data so far obtained by us. More than 70% of the entire coding sequence and 8 intron-exon boundaries have been analyzed. Four new mutations and seven intragenic polymorphisms have been detected. All mutations so far identified in rBAT belong only to cystinuria type I alleles, accounting for approximately 44% of all type I cystinuric chromosomes. Mutation M467T is the most common mutated allele in the Italian and Spanish populations. After analysis of 70% of the rBAT coding region, we have detected normal sequences in cystinuria type II and type III chromosomes. The presence of rBAT mutated alleles only in type I chromosomes of homozygous (type I/I) and heterozygous (type I/III) patients provides evidence for genetic heterogeneity where rBAT would be responsible only for type I cystinuria and suggests a complementation mechanism to explain the intermediate type I/type III phenotype.

Published
1995

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