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Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease BJMBR
Lopes,L.B.; Abreu,C.C.; Souza,C.F.; Guimaraes,L.E.R.; Silva,A.A.; Aguiar-Alves,F.; Kidd,K.O.; Kmoch,S.; Bleyer,A.J.; Almeida,J.R..
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...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chronic kidney disease; Uromodulin kidney disease; Genetic mutation; Uromodulin; UMOD; Genetic kidney diseases.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300616
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Prevalence and spatial analysis of antileptospiral agglutinins in dairy cattle - Microregion of Sete Lagoas, Minas Gerais, 2009/2010 Arq. Bras. Med. Vet. Zootec.
Nicolino,R.R.; Lopes,L.B.; Rodrigues,R.O.; Teixeira,J.F.B.; Haddad,J.P.A..
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% (95% CI = 17.1% - 24.3%) and a herd prevalence of 80.8% (95% CI = 73.8% = 87.7%) were determined. The most prevalent serovars were hardjoprajitno at 19.4%; hardjoprajitnostrain Norma at 17.4%; and hardjo-bovis at 17.4%. These results show the significance of the hardjo serovar in bovine leptospirosis cases in Minas Gerais.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Leptospirosis; Prevalence; Sete Lagoas; Dairy cattle; Brazil.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352014000300648
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