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Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease 56
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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Small-scale environmental enrichment and exercise enhance learning and spatial memory of Carassius auratus, and increase cell proliferation in the telencephalon: an exploratory study 56
Abreu,C.C.; Fernandes,T.N.; Henrique,E.P.; Pereira,P.D.C.; Marques,S.B.; Herdeiro,S.L.S.; Oliveira,F.R.R.; Magalhães,N.G.M.; Anthony,D.C.; Melo,M.A.D.; Guerreiro-Diniz,C.; Diniz,D.G.; Picanço-Diniz,C.W..
Carassius auratus is a teleost fish that has been largely used in behavioral studies. However, little is known about potential environmental influences on its performance of learning and memory tasks. Here, we investigated this question in C. auratus, and searched for potential correlation between exercise and visuospatial enrichment with the total number of telencephalic glia and neurons. To that end, males and females were housed for 183 days in either an enriched (EE) or impoverished environment (IE) aquarium. EE contained toys, natural plants, and a 12-hour/day water stream for voluntary exercise, whereas the IE had none of the above. A third plus-maze aquarium was used for spatial and object recognition tests. Different visual clues in 2 of its 4 arms...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Carassius auratus; Spatial learning and memory; Object recognition; Stereology; Telencephalon; Environmental enrichment.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000500602
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Undifferentiated carcinoma of the pancreas in a cockatiel ( Nymphicus hollandicus ): case report 45
Carvalho,T.S.G.; Abreu,C.C.; Nakayama,P.A.; Wouters,F.; Saad,C.E.P.; Zangeronimo,M.G..
ABSTRACT Undifferentiated carcinoma of the pancreas is a malignant neoplasm that is uncommon among domestic species, especially cockatiels (Nymphicus hollandicus), one of the most popular birds kept as a pet throughout the world. The aim of this study was to describe the occurrence of an undifferentiated carcinoma in the pancreas of a cockatiel. A bird, an adult male that died naturally with swelling in the abdominal region, was referred to necropsy. Macroscopic examination showed poor body condition, the coelomic cavity filled with liquid and a white mass attached to the pancreas and other smaller masses attached to the duodenum. Tissue samples and organs were harvested and fixed in 10% buffered formalin, then routinely processed for histopathology and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Pancreatic cancer; Epithelial tumor; Histopathology; Parrot; Cacatuidae.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352017000300600
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