RESUMO
The study aimed to explore the pontential impact of 10 polymorphisms within IFN-α, IFN-ß1, IFN-γ and TLR3 genes on SLE phenotype and susceptibility and to study the relationship between specific genotypes and clinics. Whole blood samples from SLE patients and healthy controls was obtained. DNA was extracted from the peripheral blood by the QIAamp DNA Blood Mini Kit (Qiagen). The quality and quantity of isolated DNA was estimated by the Quawell Q5000 spectrophotometer. We genotyped SLE patients and healthy subjects using real-time PCR (QuantStudio 5 thermocycler). The study suggests that IFN-γ rs2069705, IFN-γ rs2069718 and IFN-α rs3758236 polymorphisms have a protective role in SLE. We observed relations between TLR3 rs3775292, IFN-ß1 rs7873167, IFN-γ rs2069705, TLR3 rs3775291 and TLR3 rs5743305 polymorphisms and clinical picture of SLE patients. We found associations between the IFN-α rs3758236, IFN-γ rs2069705, IFN-γ rs2069718, IFN-γ rs1861493 and IFN-ß1 rs10964831 polymorphisms and the clinical manifestation of the SLE and/or its comorbidities. We perceived links between IFN-γ rs2069705, IFN-γ rs2069718, IFN-γ rs1861493, TLR3 rs3775291, TLR3 rs3775292 and TLR3 rs5743305 polymorphisms and the occurrence of autoantibodies. Our study presented the relationship between IFN and TLR gene polymorphisms with SLE susceptibility, phenotype and autoantibodies profile. This study propose that polymorphisms within interferons and TLR3 genes can be engaged in the SLE pathogenesis and course.
Assuntos
Predisposição Genética para Doença , Genótipo , Lúpus Eritematoso Sistêmico , Polimorfismo de Nucleotídeo Único , Receptor 3 Toll-Like , Humanos , Lúpus Eritematoso Sistêmico/genética , Receptor 3 Toll-Like/genética , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Frequência do Gene , Alelos , Estudos de Casos e Controles , Interferons/genética , Estudos de Associação GenéticaRESUMO
AIM: To determine the potential of Bacillus thuringiensis, known primarily for its entomopathogenicity, to be a psychrotolerant contaminant of stored products. METHODS AND RESULTS: We determined the genetic properties and diversity of cold-adapted isolates of B. thuringiensis based on (i) the presence of cspA, a genetic determinant that confers psychrotolerance in Bacillus weihenstephanensis, (ii) 16S rRNA genes, and (iii) pulse-field gel electrophoretic (PFGE) genome profiles. We assessed the pathogenic potential of these isolates based on whether they harboured various combinations of known toxigenic-associated determinants (nheA, hblA, cytK). Of 36 nonclonal B. thuringiensis cultured from soil and milk, 21 harboured cspA, and of these, 16 (76%) were psychrotolerant and possessed genetic signatures typical of psychrotrophic Bacillus species. The majority of psychrotolerant isolates contained various combinations of nheA, hblA, and cytK. CONCLUSION: Our results show that natural isolates of psychrotolerant B. thuringiensis occur in soil and milk, and suggest that psychrotolerance is determined by cspA. SIGNIFICANCE AND IMPACT OF THE STUDY: The presence of cspA in combination with nheA, hblA, and cytK could be of concern if commercial products are contaminated with strains that harbour these determinants.
Assuntos
Bacillus thuringiensis/genética , Bacillus thuringiensis/isolamento & purificação , Bacillus/genética , Leite/microbiologia , Microbiologia do Solo , Animais , Bacillus/classificação , Bacillus/crescimento & desenvolvimento , Bacillus thuringiensis/crescimento & desenvolvimento , Proteínas de Bactérias/genética , Impressões Digitais de DNA , DNA Bacteriano/análise , DNA Bacteriano/genética , DNA Ribossômico/análise , DNA Ribossômico/genética , Eletroforese em Gel de Campo Pulsado , Enterotoxinas/genética , Proteínas de Choque Térmico/genética , Controle Biológico de Vetores , Reação em Cadeia da Polimerase , RNA Ribossômico 16S/genética , Proteínas de Ligação a RNA/genética , TemperaturaRESUMO
Infections caused by Toxoplasma gondii are prevalent in humans and animals throughout the world. So far, there is no sufficient information concerning T. gondii oocysts prevalence in the environment, especially in soil. Therefore, the aim of this study was to estimate occurrence of T. gondii oocysts in soil and determine the genotype of detected parasites. A total of 101 soil samples were taken from different sites (sand-pits, "farming ground", areas around rubbish dumps) located in the Tri-City (Poland). Oocysts were recovered using the flotation method. Then, PCR reactions targeting the B1 gene were performed for specific T. gondii detection. The positive samples were further confirmed by PCR amplification of a repetitive element (REP) sequence [GenBank accession number AF146527]. Toxoplasma DNA was found in 18 samples. Among them, seven samples were successfully genotyped at the SAG2 locus. They were classified as SAG2 type I (5 samples) and SAG2 type II (2 samples). This is one of the first investigations describing T. gondii oocyst detection in environmental soil samples with rapid molecular detection methods and genotyping. The results of our findings showed that soil contaminated with T. gondii oocysts may play a role in the epidemiology of human toxoplasmosis in Poland.
Assuntos
DNA de Protozoário/isolamento & purificação , Oocistos , Solo/parasitologia , Toxoplasma/isolamento & purificação , Animais , DNA de Protozoário/genética , Genótipo , Humanos , Polônia , Reação em Cadeia da Polimerase/métodos , Proteínas de Protozoários/genética , Toxoplasma/genéticaRESUMO
A rare metabolic disease, alpha-mannosidosis, is described in two siblings. Psychomotoric deficiency, deafness, coarse face and radiological changes in the skeletal system indicated an inherited lysosomal storage disease.
Assuntos
alfa-Manosidose/diagnóstico , Doenças Ósseas/diagnóstico por imagem , Criança , Pré-Escolar , Surdez , Feminino , Humanos , Masculino , Radiografia , alfa-Manosidose/genéticaRESUMO
The authors described some details from the life of Beethoven, emphasizing his problem linked with his progressive deafness. The etiology of the deafness is not known. The authors discussed their own hypothesis of "music language".
