RESUMO
BACKGROUND: Metallothioneins (MTs) gene polymorphisms have been associated with the ability of free radical scavenging and detoxification of heavy metals leading to cancer development. Our aim was to revisit, in a Brazilian population, single-nucleotide polymorphisms (SNPs) of the MT gene family previously associated with oral squamous cell carcinoma (OSCC). MATERIAL AND METHODS: A case-control investigation with 28 OSCC patients and 45 controls was conducted, using conventional risk factors (tobacco use and alcohol consumption) as covariates. SNPs genotyping for rs8052334 (MT1B), rs964372 (MT1B), and rs1610216 (MT2A) was performed by PCR-RFLP, and SNPs for rs11076161 (MT1A) were analyzed by TaqMan assay. RESULTS: The only SNP associated with increased risk for OSCC was the MT-1A AA genotype (OR = 4.7; p = 0.01). We have also evidenced for the first time a significant linkage disequilibrium between the SNPs of MT-2A and MT-1A in this population with the highest frequency (30%) of the unfavorable haplotype G/A/C/T (rs1610216 / rs11076161 / rs964372 / rs8052334) of MT gene polymorphisms (OR = 6.2; p = 0.04). Interestingly, after removing the effects of conventional risk factors, we have uncovered the significance of the AA genotype of the rs11076161 with increased odds of 19-fold higher towards OSCC development. CONCLUSIONS: This is the first demonstration that a significant linkage disequilibrium among gene polymorphisms of the MT family may affect susceptibility to oral cancer, which is conditioned by the G/A/C/T haplotype (rs1610216/rs11076161/rs964372/ rs8052334) and the MT-1A gene polymorphism has a potential clinical utility for the OSCC risk assessment.
Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Bucais , Brasil , Carcinoma de Células Escamosas/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Humanos , Metalotioneína/genética , Neoplasias Bucais/genética , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Carcinoma de Células Escamosas de Cabeça e PescoçoRESUMO
Infection caused by the fungus Batrachochytrium dendrobatidis (Bd) produces chytridiomycosis, a disease considered one of the main causes of amphibian population declines in the world. In Brazil, Bd has been recorded in several regions, but mainly in the Atlantic Forest biome. This study aimed to investigate the occurrence of Bd in amphibian species in Bahia State to test the hypothesis that Bd is widespread in other Brazilian biomes. Using histological analysis, we evaluated the skin of 190 anurans of 85 species preserved in herpetological collections. Based on these analyses, the distribution of Bd was extended approximately 400 km to the west, 150 km to the north and 105 km to the east in the state of Bahia. Of the 190 specimens analyzed, Bd infection was diagnosed in 16 individuals, from 14 species, with the earliest record from a specimen collected in 1996 in the Caatinga biome. We identified Bd in 13 adult specimens, including 2 individuals showing suggestive signs of the disease (loss of skin pigmentation). In tadpoles, we recorded fungal structures in the oral region and on the epidermis adjacent to the rows of teeth. The results of this study corroborate the prediction that Bd is widespread in the Atlantic Forest biome, and suggest that it is widespread in the other biomes of the state (Cerrado and Caatinga, at least since 1996). Conservation efforts should involve long-term studies aimed at providing information on the dynamics of the infection, its relationship with its host and its effect on amphibian populations.
Assuntos
Quitridiomicetos , Micoses , Animais , Anuros , Brasil , EcossistemaRESUMO
Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFß, PDGFRß, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations. No difference was detected in SLC20A1 and XPR1 expression between the groups compared to control. The results suggest that mutations in SLC20A2 gene by itself play an import role by reducing its expression in blood of PFBC patients. At the same time, we could not demonstrate a direct co-regulation between the three Pi transporters at mRNA level, once their expression did not change among the groups.
Assuntos
Encefalopatias/genética , Calcinose/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Adulto , Idoso , Encefalopatias/patologia , Calcinose/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Receptores Acoplados a Proteínas G/genética , Receptores Acoplados a Proteínas G/metabolismo , Receptores Virais/genética , Receptores Virais/metabolismo , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/sangue , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/metabolismo , Receptor do Retrovírus Politrópico e XenotrópicoRESUMO
Given the importance of selecting lines to obtain hybrids, we aimed to verify the relationship between morphological traits that can be used as the criteria for the selection of sorghum lines with high grain yield and earliness. A total of 18 traits were evaluated in 160 sorghum elite lines, in an incomplete block design with two replicates. A correlation network was used to graphically express the estimates of phenotypic and genotypic correlations between the traits. Two path analyses were processed, the first considering grain yield and the second considering flowering as the principle dependent variable. In general, most of the variation in the grain yield and flowering of sorghum lines was explained by the traits evaluated. Selecting sorghum lines with greater width of the third leaf blade from flag leaf, panicle weight, and panicle harvest index might lead to increased grain yield, and selecting sorghum genotypes with higher plant height might lead to reduced earliness and increased grain yield. Thus, the results suggest the establishment of selection indices aiming at simultaneously increasing the grain yield and earliness in sorghum genotypes.
Assuntos
Grão Comestível/genética , Característica Quantitativa Herdável , Sorghum/genética , Grão Comestível/crescimento & desenvolvimento , Genótipo , Sorghum/crescimento & desenvolvimentoRESUMO
Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. The condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for ~40% of inherited cases, and this gene encodes an inorganic phosphate transporter (PiT-2), a transmembrane protein associated with Pi homeostasis. The p.Y386X mutation in SLC20A2 was identified in a patient who presented migraines, brain calcification, and mild but chronic hypovitaminosis D. SLC20A2 c.1158C > G single-nucleotide heterozygous mutation results in a premature stop codon and a putative truncated protein of 385 amino acids. Proband parents do not present the mutation, which is also not present in major public SNP databases, suggesting a de novo sporadic trait. This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology.
Assuntos
Encéfalo/patologia , Calcinose/genética , Mutação , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Adulto , Calcinose/diagnóstico , Códon de Terminação , Feminino , Humanos , MasculinoRESUMO
Platynosomum fastosum is a feline biliary tract trematode that generally causes asymptomatic infections. In the early 1980s in Brazil, P. fastosum was associated with cholangiocarcinomas, but this finding was not confirmed in the various publications on the parasite during the last 30 years. This study aims to report three cases of cholangiocarcinomas in cats associated with the presence of P. fastosum. From 2000 to 2011, in the Veterinary Hospital of the Federal University of Campina Grande in northeast Brazil, 348 cats were necropsied, 11 of which (3.16%) were parasitized by P. fastosum. Three cases that resulted in death were associated with cholangiocarcinomas that were found to be associated with P. fastosum. Histologically, the tumors consisted of acini composed of cells with pleomorphic nuclei, loose chromatin, evident nucleoli and lightly eosinophilic cytoplasm. Metastases were observed in two cases. The first case involved metastases to the lungs, kidneys, ovary and peritoneum, and in the second case, the lymph nodes, kidneys, heart and encephalon were involved. The other 8 cats died from other causes, and the parasite was an incidental finding. In those cases, the histologic lesions were nonsuppurative cholangiohepatitis and periductal fibrosis with P. fastosum present. Six animals also showed pre-neoplastic changes (hyperplasia and dysplasia) of the biliary duct epithelium. The study concluded that, as observed in other human biliary tract trematodes, P. fastosum causes cholangiocarcinomas in the liver of cats.
Assuntos
Neoplasias dos Ductos Biliares/veterinária , Ductos Biliares Intra-Hepáticos/parasitologia , Doenças do Gato/parasitologia , Colangiocarcinoma/veterinária , Hepatopatias Parasitárias/veterinária , Infecções por Trematódeos/veterinária , Animais , Neoplasias dos Ductos Biliares/parasitologia , Neoplasias dos Ductos Biliares/patologia , Ductos Biliares Intra-Hepáticos/patologia , Brasil , Doenças do Gato/patologia , Gatos , Colangiocarcinoma/parasitologia , Colangiocarcinoma/patologia , Evolução Fatal , Feminino , Fígado/parasitologia , Fígado/patologia , Hepatopatias Parasitárias/complicações , Hepatopatias Parasitárias/patologia , Metástase Linfática , Masculino , Metástase Neoplásica , Trematódeos/isolamento & purificação , Infecções por Trematódeos/complicações , Infecções por Trematódeos/patologiaRESUMO
Here, we report an outbreak of Trypanosoma vivax-induced trypanosomosis in Brazilian hair sheep on a farm in Paraíba state, a non-endemic region in northeastern Brazilian. Of 306 total sheep, 240 showed clinical signs and 216 died. Clinical signs included anorexia, lethargy, anemia, rough hair coat, weight loss, submandibular edema, abortion, and in some cases, neurological signs such as head pressing, lateral recumbence, paddling movements and muscle tremors. T. vivax was identified by blood smear analysis and polymerase chain reaction (PCR). At necropsy, animals exhibited watery blood, pale tissue coloring, and the presence of liquid in the peritoneal cavity and pericardial sac. Histologically, nonsuppurative myocarditis and meningoencephalitis with areas of malacia were observed. After treatment, no parasites were detected by blood smear analysis or PCR. Cattle and buffalo that remained in the same pasture were also infected but presented with asymptomatic infections. Epidemiological data suggest that T. vivax was introduced to the farm and the susceptible flock by buffalos that were asymptomatic carriers of the infection; T. vivax was most likely transmitted by Tabanus spp. bites and also iatrogenically.
Assuntos
Doenças do Sistema Nervoso Central/veterinária , Doenças dos Ovinos/parasitologia , Trypanosoma vivax , Tripanossomíase/veterinária , Animais , Búfalos , Bovinos , Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/parasitologia , Doenças do Sistema Nervoso Central/parasitologia , Doenças do Sistema Nervoso Central/patologia , Surtos de Doenças/veterinária , Ovinos , Fatores de Tempo , Tripanossomíase/parasitologiaRESUMO
Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to groups of 4 pregnant goats each. Fresh green M. tenuiflora was collected daily and fed ad libitum to 4 goats in group 1 throughout pregnancy. This treatment group also received a supplemental feed concentrate equivalent to 1% body weight. Four goats in group 2 received a ration with 70% of P. juliflora pods and 30% hay throughout pregnancy. Four control goats were fed supplemental feed concentrate (1% body weight) and hay ad libitum throughout pregnancy. Goats treated with P. juliflora pods and the control goats delivered 9 normal kids. The four goats that were fed M. tenuiflora during pregnancy delivered 4 kids, 3 of which had abnormalities similar to those observed in field cases, including cleft lip, unilateral corneal opacity, ocular bilateral dermoids, buphthalmos with a cloudy brownish appearance of the anterior chamber due to an iridal cyst, and segmental stenosis of the colon. Malformations induced experimentally by M. tenuiflora were similar to those observed in field cases, suggesting that M. tenuiflora is a cause of the field cases observed in the Brazilian semiarid rangelands.
Assuntos
Anormalidades Craniofaciais/veterinária , Oftalmopatias/veterinária , Doenças das Cabras/induzido quimicamente , Enteropatias/veterinária , Mimosa/toxicidade , Escoliose/veterinária , Animais , Brasil , Anormalidades Craniofaciais/induzido quimicamente , Oftalmopatias/induzido quimicamente , Oftalmopatias/congênito , Feminino , Cabras , Enteropatias/induzido quimicamente , Enteropatias/congênito , Intoxicação por Plantas , Gravidez , Escoliose/induzido quimicamente , Escoliose/congênitoRESUMO
Quality of life is an important outcome measurement to judge disease impact and response to treatment; however it is very difficult to measure. We compared the MacKenzie's Change in Maximal Function Index (CMFI) with the Change in Quality of Life Index (CQLI) developed by our group. Both indices were applied on admission and upon discharge of 23 medical and surgical inpatients. The CQLI's interobserver reliability was somewhat better (Ri = 0.69) than that of the CMFI (Kw = 0.49). Both indices correlated with patient, close relative and physician assessments (rs = 0.52 to 0.86, p < 0.05). There was no correlation with Karnofsky scores. Both showed adequate responsiveness with Guyatt's coefficients between 2 and 4. Ninety five percent of the patients thought the questionnaires were easy to answer and approximately 5 minutes were enough to complete them. Both indices seem to perform better when applied by a social worker than when applied by a physician. Our results suggest that it is feasible to obtain consistent estimates of changes in quality of life. Either one of these indices may be used to assess the impact of medical intervention.