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1.
Braz J Med Biol Res ; 51(3): e6560, 2018 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-29513881

RESUMO

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause.


Assuntos
Mutação/genética , Rim Policístico Autossômico Dominante/genética , Uromodulina/genética , Biópsia , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Linhagem , Rim Policístico Autossômico Dominante/patologia
2.
Arq. bras. med. vet. zootec ; 66(3): 648-654, 06/2014. tab, graf
Artigo em Inglês | VETINDEX | ID: vti-10860

RESUMO

The aim of this study was to evaluate the seroprevalence of leptospirosis in the dairy herds from Minas Gerais, Brazil, during the years 2009 and 2010. A total of 2,915 serum samples were collected from the lactating cows of 151 properties in eleven municipalities located in the Sete Lagoas region. The Microscopic Agglutination Test was used to detect antileptospiral agglutinins. An individual animal prevalence of 20.7 percent (95 percent CI = 17.1 percent - 24.3 percent) and a herd prevalence of 80.8 percent (95 percent CI = 73.8 percent = 87.7 percent) were determined. The most prevalent serovars were hardjoprajitno at 19.4 percent; hardjoprajitno strain Norma at 17.4 percent; and hardjo-bovis at 17.4 percent. These results show the significance of the hardjo serovar in bovine leptospirosis cases in Minas Gerais.(AU)


Avaliou-se a prevalência de aglutininas antileptospira em rebanhos leiteiros durante os anos de 2009 e 2010. Foram coletadas 2.915 amostras de soro de vacas lactantes de 151 propriedades localizadas na região de Sete Lagoas - MG. Foi utilizado o teste de aglutinação microscópica (MAT) para detecção de aglutininas antileptospira. Prevalência animal de 20,7 por cento (95 por cento CI = 17,1 por cento-24,3 por cento) e prevalência de rebanho de 80,8 por cento (95 por cento CI = 73,8 por cento = 87,7 por cento) foram reportadas. Os sorotipos mais prevalentes no estudo foram hardjoprajitno (19,4 por cento); hardjoprajitno estirpe Norma (17,4 por cento) e hardjo-bovis (17,4 por cento). Estes resultados demostram a importância da sorovariedade hardjo nos casos de leptospirose bovina do estado de Minas Gerais.(AU)


Assuntos
Animais , Bovinos , Bovinos/imunologia , Leptospira/isolamento & purificação , Aglutininas/sangue , Testes de Aglutinação/veterinária , Leptospirose/veterinária , Testes Sorológicos/veterinária
3.
Arq. bras. med. vet. zootec ; 66(3): 648-654, 06/2014. tab, graf
Artigo em Inglês | LILACS | ID: lil-718067

RESUMO

The aim of this study was to evaluate the seroprevalence of leptospirosis in the dairy herds from Minas Gerais, Brazil, during the years 2009 and 2010. A total of 2,915 serum samples were collected from the lactating cows of 151 properties in eleven municipalities located in the Sete Lagoas region. The Microscopic Agglutination Test was used to detect antileptospiral agglutinins. An individual animal prevalence of 20.7 percent (95 percent CI = 17.1 percent - 24.3 percent) and a herd prevalence of 80.8 percent (95 percent CI = 73.8 percent = 87.7 percent) were determined. The most prevalent serovars were hardjoprajitno at 19.4 percent; hardjoprajitno strain Norma at 17.4 percent; and hardjo-bovis at 17.4 percent. These results show the significance of the hardjo serovar in bovine leptospirosis cases in Minas Gerais...


Avaliou-se a prevalência de aglutininas antileptospira em rebanhos leiteiros durante os anos de 2009 e 2010. Foram coletadas 2.915 amostras de soro de vacas lactantes de 151 propriedades localizadas na região de Sete Lagoas - MG. Foi utilizado o teste de aglutinação microscópica (MAT) para detecção de aglutininas antileptospira. Prevalência animal de 20,7 por cento (95 por cento CI = 17,1 por cento-24,3 por cento) e prevalência de rebanho de 80,8 por cento (95 por cento CI = 73,8 por cento = 87,7 por cento) foram reportadas. Os sorotipos mais prevalentes no estudo foram hardjoprajitno (19,4 por cento); hardjoprajitno estirpe Norma (17,4 por cento) e hardjo-bovis (17,4 por cento). Estes resultados demostram a importância da sorovariedade hardjo nos casos de leptospirose bovina do estado de Minas Gerais...


Assuntos
Animais , Bovinos , Aglutininas/sangue , Bovinos/imunologia , Leptospira/isolamento & purificação , Testes de Aglutinação/veterinária , Leptospirose/veterinária , Testes Sorológicos/veterinária
4.
Colloids Surf B Biointerfaces ; 39(4): 151-8, 2004 Dec 25.
Artigo em Inglês | MEDLINE | ID: mdl-15555896

RESUMO

The encapsulation of acid (AD) and sodium diclofenac (SD) in small unilamellar liposomes (SUV) as well as the interactions of the drug with the bilayer was studied. SUV was prepared by sonication from multilamellar liposomes containing soya phosphatidylcholine and diclofenac at various proportions. The size distribution obtained from dynamic light scattering showed that the incorporation of SD decreases significantly the size of the liposomes suggesting that the drug interacts with the bilayer of the liposomes. This size decrease is related with the phase transition of liposomes to mixed micelar solution. The encapsulation of the hydrophilic dye indocyanine green in the aqueous compartment of liposomes showed that the rate of captured dye decreases with SD concentration suggesting the transition of liposomes to mixed micelles. The (31)P NMR analysis indicates that SD interacts with the phosphate of phosphatidylcholine head groups. A schematic model for interaction of SD with phosphatidylcholine of the liposomes in which the diclofenac anion interacts with the ammonium group of the phospholipid and the dichlorophenyl ring occupies a more internal site of bilayer near phosphate group was proposed.


Assuntos
Anti-Inflamatórios não Esteroides/química , Diclofenaco/química , Sistemas de Liberação de Medicamentos , Lipossomos/química , Fosfatidilcolinas/química , Corantes/química , Micelas , Modelos Biológicos , Tamanho da Partícula , Fosfatos/química , Compostos de Amônio Quaternário/química , Óleo de Soja/química , Tensão Superficial
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