Perfil epidemiológico da cisticercose bovina e suína em três regiões do estado de Minas Gerais, Brasil / Epidemiological profile of bovine and swine cysticercosis in three regions of Minas Gerais State, Brazil

Com o objetivo de avaliar a situação epidemiológica da cisticercose suína e bovina na zona rural de cinco municípios, distribuídos em três distintas regiões do estado de Minas Gerais, foi determinada a prevalência das cisticercoses bovina e suína nas propriedades rurais e os principais fatores de risco que poderiam favorecer a transmissão e manutenção da doença nas referidas propriedades. A pesquisa abrangeu 388 propriedades, localizadas em 91 diferentes comunidades rurais, sendo coletadas 1.792 amostras de sangue bovino e 554 de suíno. Além da avaliação das referidas amostras laboratoriais (ELISA indireto e imunoblot), também foram analisados os dados obtidos da aplicação de um questionário para cada propriedade, no qual constava as informações sobre as condições socioeconômicas, higiênico-sanitárias e as relacionadas ao sistema de criação animal. A prevalência da cisticercose variou de 0,3 a 5,9% nos bovinos e de 0 a 2,8% nos suínos criados artesanalmente nesses municípios pesquisados. Os principais fatores de risco de transmissão identificados foram a fonte de água consumida, a origem da carne, a natureza do município e da região, para a cisticercose bovina, e o destino do esgoto e o sistema de criação, para a cisticercose suína.(AU)

In order to evaluate the epidemiological situation of porcine and bovine cysticercosis in the rural area of five municipalities, distributed in three different regions of the state of Minas Gerais, Brazil, the prevalence of bovine and porcine cysticercosis was determined in the rural properties as well as the main risk factors that may favor the transmission and maintenance of the disease in these properties. The research covered 388 farms, located in 91 different rural communities, with 1,792 samples of bovine blood and 554 of swine collected. In addition to the evaluation of these laboratory samples (indirect ELISA and Imunoblot), the data obtained from the application of a questionnaire for each property were also analyzed, with information on socioeconomic, hygienic-sanitary and animal-related conditions. The prevalence of cysticercosis ranged from 0.3 to 5.9% in cattle and from 0 to 2.8% in the pigs raised in these municipalities. Among the main risk factors for transmission of bovine cysticercosis were the source of water consumed, the origin of the meat, the nature of the municipality and the region. Regarding the pigs, risk factors were the sewage disposal and animal management system.(AU)

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures. Most cases are caused by autosomal dominant mutations in the type I collagen genes COL1A1 and COL1A2; however, an increasing number of recessive mutations in other genes have been reported. The LEPRE1, CRTAP, and PPIB genes encode proteins that form the P3H1/CRTAP/CypB complex, which is responsible for posttranslational modifications of type I collagen. In general, mutations in these genes lead to severe and lethal phenotypes of recessive OI. Here, we describe sixteen genetic variations detected in LEPRE1, CRTAP, and PPIB from 25 Brazilian patients with OI. Samples were screened for mutations on single-strand conformation polymorphism gels and variants were determined by automated sequencing. Seven variants were detected in patients but were absent in control samples. LEPRE1 contained the highest number of variants, including the previously described West African allele (c.1080+1G>T) found in one patient with severe OI as well as a previously undescribed p.Trp675Leu change that is predicted to be disease causing. In CRTAP, one patient carried the c.558A>G homozygous mutation, predicted as disease causing through alteration of a splice site. Genetic variations detected in the PPIB gene are probably not pathogenic due to their localization or because of their synonymous effect. This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. In addition, the results strengthen the proposition that LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI.

Relevant peptides of Taenia crassiceps for the diagnosis of bovine cysticercosis by immunoblot / Peptídeos relevantes de Taenia crassiceps para o diagnóstico da cisticercose bovina pelo immunoblot

Given the limited knowledge about the diagnosis of bovine cysticercosis by immunoblot, the aim of this study was to assess the applicability of this test, identifying key peptides with diagnostic value. Immunoblot assays were performed using total larval antigen of Taenia crassiceps and 60 sera of positive bovines for cysticercosis (30 naturally and 30 experimentally infected with T. saginata eggs), 30 sera of negative bovines for cysticercosis and 30 sera of bovines with other diseases (fascioliasis, hydatidosis and tuberculosis). The peptides of greater diagnostic importance, in descending order of accuracy (%), were as follows: 6-8kDa (90.8%), 129-143kDa (74.2%), 99-105kDa (71.7%) and 14-19kDa (71.1%). Cross-reactions, due to fascioliasis and hydatidosis, were observed in the four intervals of peptides highlighted. The results demonstrate that the total antigen of T. crassiceps has peptides with a high diagnostic potential; therefore, the immunoblot is useful in the diagnosis of bovine cysticercosis.

Tendo em vista o conhecimento limitado sobre o diagnóstico da cisticercose bovina pelo immunoblot, o objetivo deste trabalho foi avaliar a aplicabilidade desse teste, identificando os principais peptídeos com valor diagnóstico. Foram realizados ensaios de immunoblot, utilizando antígeno total de larva de Taenia crassiceps e 60 soros de bovinos positivos para a cisticercose (30 naturalmente e 30 experimentalmente infectados com ovos de T. saginata), 30 soros de bovinos negativos para a cisticercose e 30 soros de bovinos com outras patologias (fasciolose, hidatidose e tuberculose). Os peptídeos de maior importância diagnóstica, em ordem decrescente de acurácia (%), foram os seguintes: 6-8 kDa (90,8%), 129-143 kDa (74,2%), 99-105 kDa (71,7%) e 14-19 kDa (71,1%). Reações cruzadas, em decorrência da fasciolose e hidatidose, foram observadas nos quatro intervalos de peptídeos ressaltados. Os resultados demonstram que o antígeno total de T. crassiceps possui peptídeos com alto potencial diagnóstico, sendo, portanto, o immunoblot útil no diagnóstico da cisticercose bovina.

Soil features and indoor radon concentration prediction: radon in soil gas, pedology, permeability and 226Ra content.

This work aims at relating some physicochemical features of soils and their use as a tool for prediction of indoor radon concentrations of the Metropolitan Region of Belo Horizonte (RMBH), Minas Gerais, Brazil. The measurements of soil gas radon concentrations were performed by using an AlphaGUARD monitor. The (226)Ra content analysis was performed by gamma spectrometry (high pure germanium) and permeabilities were performed by using the RADON-JOK permeameter. The GEORP indicator and soil radon index (RI) were also calculated. Approximately 53 % of the Perferric Red Latosols measurement site could be classified as 'high risk' (Swedish criteria). The Litholic Neosols presented the lowest radon concentration mean in soil gas. The Perferric Red Latosols presented significantly high radon concentration mean in soil gas (60.6 ± 8.7 kBq m(-3)), high indoor radon concentration, high RI, (226)Ra content and GEORP. The preliminary results may indicate an influence of iron formations present very close to the Perferric Red Latosols in the retention of uranium minerals.

Radon dose assessment in underground mines in Brazil.

Underground miners are internally exposed to radon, thoron and their short-lived decay products during the mineral processing. There is also an external exposure due to the gamma emitters present in the rock and dust of the mine. However, the short-lived radon decay products are recognised as the main radiation health risk. When inhaled, they are deposited in the respiratory system and may cause lung cancer. To address this concern, concentration measurements of radon and its progeny were performed, the equilibrium factor was determined and the effective dose received was estimated in six Brazilian underground mines. The radon concentration was measured by using E-PERM, AlphaGUARD and CR-39 detectors. The radon progeny was determined by using DOSEman. The annual effective dose for the miners was estimated according to United Nations Scientific Committee on the Effects of Atomic Radiation methodologies. The mean value of the equilibrium factor was 0.4. The workers' estimated effective dose ranged from 1 to 21 mSv a(-1) (mean 9 mSv a(-1)).

²²²Rn, ²²6Ra and hydrochemistry in the Bauru Aquifer System, São José do Rio Preto (SP), Brazil.

In this paper, the (222)Rn and (226)Ra activity concentration was measured in groundwater samples collected from the Bauru Aquifer System, São José do Rio Preto city, São Paulo State, Brazil. The site has been selected for a detailed radiometric survey due to the large number of tubular wells drilled in the aquifer there, which provide water for ~70% of the local population. Despite the importance of groundwater for the local water-supply system, there is a lack of both (222)Rn and (226)Ra data in the municipality. Establishment of these data is relevant to assure that the water quality from a radiological point of view, is not health threat. São José do Rio Preto city is geologically situated in Bauru Group that is located within the Paraná sedimentary basin. The monitoring program involved the collection of 50 groundwater samples from deep tubular wells during three field campaigns held from 17th to 19th January 2011, from 2nd to 3rd August 2011 and in 30th November 2011. Temperature and pH readings were realized in the field, whereas (222)Rn and (226)Ra analysis were performed at the laboratory using the Alpha Guard-Aquakit analytical protocol, which allowed us to obtain (222)Rn activity concentration ranging from 0.69 to 14.95 Bq/L. These data indicate that the abundances of (222)Rn and (226)Ra in the groundwater system of Bauru Group is below the WHO guideline limit of 100 Bq/L. Chemical analysis has been also realized for major cations and anions in order to better understand the water features in the municipality.

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T), in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X), was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T), in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X), was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.

Lack of photoreceptor signaling alters the expression of specific synaptic proteins in the retina.

Synaptic modulation by activity-dependent changes constitutes a cellular mechanism for neuronal plasticity. However, it is not clear how the complete lack of neuronal signaling specifically affects elements involved in the communication between neurons. In the retina, it is now well established that both chemical and electrical synapses are essential to mediate the transmission of visual signaling triggered by the photoreceptors. In this study, we compared the expression of synaptic proteins in the retinas of wild-type (WT) vs. rd/rd mice, an animal model that displays inherited and specific ablation of photoreceptors caused by a mutation in the gene encoding the beta-subunit of rod cGMP-phosphodiesterase (Pde6brd1). We specifically examined the expression of connexins (Cx), the proteins that form the gap junction channels of electrical synapses, in addition to synaptophysin and synapsin I, which are involved in the release of neurotransmitters at chemical synapses. Our results revealed that Cx36 gene expression levels are lower in the retinas of rd/rd when compared with WT. Confocal analysis indicated that Cx36 immunolabeling almost disappeared in the outer plexiform layer without significant changes in protein distribution within the inner plexiform layer of rd/rd retinas. Likewise, synaptophysin expression remarkably decreased in the outer plexiform layer of rd/rd retinas, and this down-regulation was also associated with diminished transcript levels. Furthermore, we observed down-regulation of Cx57 gene expression in rd/rd retinas when compared with WT and also changes in protein distribution. Interestingly, Cx45 and synapsin I expression in rd/rd retinas showed no noticeable changes when compared with WT. Taken together, our results revealed that the loss of photoreceptors leads to decreased expression of some synaptic proteins. More importantly, this study provides evidence that neuronal activity regulates, but is not essential to maintain, the expression of synaptic elements.