Sanitary profile in mice and rat colonies in laboratory animal houses in Minas Gerais: I - Endo and ectoparasites / Perfil sanitário de colônias de camundongos e ratos de biotérios de Minas Gerais: I - Endo e ectoparasitos

The sanitary conditions of 13 animal houses in nine public institutions in Minas Gerais, and the presence of endo and ectoparasites of mice and rats colonies kept in these facilities were evaluated. Data about barriers to prevent the transmission of diseases and a program of sanitary monitoring were obtained through a questionnaire and local visit. Parasitological methods were performed for diagnosing mite, lice, helminthes, and protozoa parasites in 344 mice and 111 rats. Data have shown that the majority of the animal houses had neither proper physical environment nor protection barriers to prevent the transmission of infections. Parasitological results have shown that only one animal house (7.7 percent) had parasite free animals, whereas the others have presented infected animals and the prevalences of parasites in the mice colonies were: Myobia musculi (23.1 percent); Myocoptes musculinus (38.5 percent); Radfordia affinis (15.4 percent); Syphacia obvelata (92.3 percent); Aspiculuris tetraptera (23.1 percent); Hymenolepis nana (15.4 percent); Spironucleus muris (46.2 percent); Giardia muris (46.2 percent); Tritrichomonas muris (53.8 percent); Trichomonas minuta (61.5 percent); Hexamastix muris (7.7 percent); and Entamoeba muris (84.6 percent). As for the rat colonies, the prevalences were: Poliplax spinulosa (8.1 percent); Syphacia muris (46.2 percent); Trichosomoides crassicauda (28.6 percent); Spironucleus muris (85.7 percent); Tritrichomonas muris (85.7 percent); Trichomonas minuta (85.7 percent); Hexamastix muris (14.3 percent) and Entamoeba muris (85.7 percent)

Avaliaram-se as condições sanitárias de 13 biotérios de nove instituições públicas do estado de Minas Gerais, bem como a presença de endo e ectoparasitos nos camundongos e ratos criados nesses biotérios. Os dados sobre barreiras contra infecções e sobre o programa de monitoramento sanitário dos animais foram obtidos por meio de um questionário e de visitas aos biotérios. Métodos parasitológicos foram utilizados para o diagnóstico de ácaros, piolhos, helmintos e protozoários em 344 camundongos e 111 ratos. A maioria dos biotérios não possuía espaços físicos adequados nem barreiras de proteção que pudessem impedir a transmissão de infecções. Os resultados parasitológicos mostraram que em apenas um biotério não foram encontrados animais parasitados. A prevalência de parasitos encontrados em camundongos nos outros biotérios foi: Myobia musculi (23,1 por cento), Myocoptes musculinus (38,5 por cento), Radfordia affinis (15,4 por cento), Syphacia obvelata (92,3 por cento), Aspiculuris tetraptera (23,1 por cento), Hymenolepis nana (15,4 por cento), Spironucleus muris (46,2 por cento), Giardia muris (46,2 por cento), Tritrichomonas muris (53,8 por cento), Trichomonas minuta (61,5 por cento), Hexamastix muris (7,7 por cento) e Entamoeba muris (84,6 por cento). E nas colônias de ratos foram encontrados: Poliplax spinulosa (8,1 por cento), Syphacia muris (46,2 por cento), Trichosomoides crassicauda (28,6 por cento), Spironucleus muris (85,7 por cento), Tritrichomonas muris (85,7 por cento), Trichomonas minuta (85,7 por cento), Hexamastix muris (14,3 por cento) e Entamoeba muris (85,7 por cento)

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47 percent of all the alleles, but N370S/N370S homozygosity was found in only 10 percent of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention. Recombinant alleles were detected at a high frequency: 44 percent of the chromosomes bearing mutation L444P had other mutations derived from the pseudogene sequence, present in 25 percent of patients. Three neuronopathic type 2 patients were homozygous for L444P, all presenting additional mutations (E326K or recombinant alleles) that probably lead to the more severe phenotypes. Six children, classified as type 1 GD patients, had a L444P/L444P genotype, showing that neuronopathic symptoms may only manifest later in life. This would indicate the need for a higher treatment dose during enzyme replacement therapy. Finally, mutation G377S was present in 4 homozygous type 1 patients and also in compound heterozygosity in 5 (42 percent) type 3 patients. These findings indicate that G377S cannot be unambiguously classified as mild and suggest an allele-dose effect for this mutation.