RESUMO
Population stratification (PS) is a confounding factor in genome-wide association studies (GWASs) and also an interesting process itself. Latin American populations have mixed genetic ancestry, which may account for PS. We have analyzed the relatedness, by means of the identity-by-descent (IBD) estimations, in a sample of 1805 individuals and 1.006.703 autosomal mutations from a case-control study of colorectal cancer in Mexico. When using the recommended protocol for quality control assessment, 402 should have been removed due to relatedness. Our purpose was to analyze this value in the context of an admixed population. For that aim, we reanalyzed the sample using two software designed for admixed populations, obtaining estimates of 110 and 70 related individuals to remove. The results showed that the first estimation of relatedness was an effect of the higher Native American contribution in part of the data samples, being a confounding factor for IBD estimations. We conclude in the importance of considering PS and genetic ancestry in order to avoid spurious results, not only in GWAS but also in relatedness analysis.
Assuntos
Neoplasias Colorretais/genética , Genética Populacional , Estudo de Associação Genômica Ampla , Estudos de Casos e Controles , Hispânico ou Latino/genética , Humanos , México , Software , Indígena Americano ou Nativo do Alasca/genéticaRESUMO
Brettanomyces bruxellensis is the main microorganism responsible for the production of off-flavours in wine. Studies have been carried out in synthetic cultures using p-coumaric acid for the production of vinyl and ethylphenols. The results obtained have been extrapolated to authentic wine, but there is no evidence that this correlation will be correct. We studied the behaviour of B. bruxellensis native strain LAMAP L2480 in authentic wine and in a synthetic medium with a chemical composition similar to the authentic wine used in this study (basal synthetic wine + pH, ethanol and hydroxycinnamic acid concentrations of commercial wine). In some assays, B. bruxellensis has been studied using media containing 100 mg L(-1) p-coumaric acid, so we also used the same concentration added to the authentic and synthetic wines. The microorganism showed better growth in authentic wine, regardless of the presence of p-coumaric acid. In the case of synthetic wine, the addition of p-coumaric acid caused a delay in yeast growth and an increase in the production of volatile phenols. The coumarate decarboxylase activity did not show any difference regardless of the media and the presence of p-coumaric acid. Vinylphenol reductase showed higher activity when a higher concentration of p-coumaric acid was added in synthetic wine, but no change was observed in authentic wine.
Assuntos
Brettanomyces/crescimento & desenvolvimento , Meios de Cultura/metabolismo , Vinho/microbiologia , Brettanomyces/metabolismo , Ácidos Cumáricos/metabolismo , Meios de Cultura/química , Fenóis/metabolismo , Propionatos , Vinho/análiseRESUMO
Using the cytometry flow analysis and adapting the method proposed by Hasui et al. (1985), it was possible to quantify the reactive oxygen species (ROE) produced by distinct cell populations of the synovial fluid from rigid and inflamed joints in horses, and to identify an increase in the polymorphonuclear cells population densities in the inflamed joints. These data strengthen the premise that cytometry flow techniques can contribute for future researches on the articular cartilage degeneration in horses.(AU)
Assuntos
Citometria de Fluxo/métodos , Líquido Sinovial/fisiologia , Articulações/citologia , Contagem de Células/métodos , CavalosRESUMO
Using the cytometry flow analysis and adapting the method proposed by Hasui et al. (1985), it was possible to quantify the reactive oxygen species (ROE) produced by distinct cell populations of the synovial fluid from rigid and inflamed joints in horses, and to identify an increase in the polymorphonuclear cells population densities in the inflamed joints. These data strengthen the premise that cytometry flow techniques can contribute for future researches on the articular cartilage degeneration in horses.
Assuntos
Articulações/citologia , Citometria de Fluxo/métodos , Contagem de Células/métodos , Cavalos , Líquido Sinovial/fisiologiaRESUMO
We report the molecular characterization of three multiplex families and a sporadic case of juvenile Parkinsonism identified in the province of Antioquia (Colombia). Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes. Sequence analysis revealed a novel G to A transition in exon 6 at position 736 (G736A) of parkin. This change results in a non-conservative cysteine for tyrosine substitution. All affected individuals from two families were homozygous for this mutation, which was not detected in 100 normal controls. Patients from the family carrying the second haplotype and the sporadic case were homozygous for a GT insertion in exon 3. This mutation has been previously identified in French families with juvenile Parkinsonism. The concomitant presence of founder effects and allelic heterogeneity in Antioquia might relate to the founding admixture at the origin of this population.
Assuntos
Efeito Fundador , Ligases/genética , Transtornos Parkinsonianos/genética , Mutação Puntual , Adolescente , Adulto , Idade de Início , Alelos , Colômbia , Cisteína/genética , Saúde da Família , Feminino , Heterogeneidade Genética , Humanos , Masculino , Linhagem , Tirosina/genética , Ubiquitina-Proteína LigasesRESUMO
The short variant of a functional length polymorphism in the promoter region of the serotonin transporter has been associated with several behavioural and psychiatric traits, including bipolar mood disorder. The same short allele has also been implicated as a modifier of the bipolar phenotype. Here we evaluate the etiologic/modifier role of this polymorphism in a case (N=103) / control (N=112) sample for bipolar mood disorder (type I) collected from an isolated South American population. We did not detect an association between bipolar disorder and the 5-HTT promoter polymorphism in this sample. However, an excess of the short allele was seen in younger cases and in cases with psychotic symptoms. When combined with data from the literature, the increased frequency of the short allele in patients with psychotic symptoms was statistically significant.
Assuntos
Transtorno Bipolar/genética , Proteínas de Transporte/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras , Proteínas do Tecido Nervoso , Polimorfismo Genético/genética , Idade de Início , Alelos , Transtorno Bipolar/epidemiologia , Colômbia/epidemiologia , Frequência do Gene , Ligação Genética , Genética Populacional , Humanos , Razão de Chances , Regiões Promotoras Genéticas/genética , Proteínas da Membrana Plasmática de Transporte de SerotoninaRESUMO
Historical and genetic evidences suggest that the recently founded population of Antioquia (Colombia) is potentially useful for the genetic mapping of complex traits. This population was established in the 16th-17th centuries through the admixture of Amerinds, Europeans, and Africans and grew in relative isolation until the late 19th century. To examine the origin of the founders of Antioquia, we typed 11 markers on the nonrecombining portion of the Y chromosome and four markers on mtDNA in a sample of individuals with confirmed Antioquian ancestry. The polymorphisms on the Y chromosome (five biallelic markers and six microsatellites) allow an approximation to the origin of founder men, and those on mtDNA identify the four major founder Native American lineages. These data indicate that approximately 94% of the Y chromosomes are European, 5% are African, and 1% are Amerind. Y-chromosome data are consistent with an origin of founders predominantly in southern Spain but also suggest that a fraction came from northern Iberia and that some possibly had a Sephardic origin. In stark contrast with the Y-chromosome, approximately 90% of the mtDNA gene pool of Antioquia is Amerind, with the frequency of the four Amerind founder lineages being closest to Native Americans currently living in the area. These results indicate a highly asymmetric pattern of mating in early Antioquia, involving mostly immigrant men and local native women. The discordance of our data with blood-group estimates of admixture suggests that the number of founder men was larger than that of women.
Assuntos
Efeito Fundador , Indígenas Sul-Americanos/genética , Filogenia , Caracteres Sexuais , População Branca/genética , África do Norte , Alelos , Viés , Colômbia , DNA Mitocondrial/genética , Feminino , Frequência do Gene/genética , Haplótipos/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Polimorfismo Genético/genética , Espanha , Cromossomo Y/genéticaRESUMO
BACKGROUND: Eating disorders are increasing and show a variety of symptoms. They mainly include anorexia nervosa (AN), bulimia nervosa (BN), and eating disorders not specified (EDNOS). They predominate in females and represent an important danger, especially in teenagers. In serious cases, they may be life-threatening. Objective To determine the prevalence of cutaneous findings in patients with eating disorders and to compare the results with those found in the literature. METHODS: An observational, transverse, and prospective study was performed. Two hundred patients of recent admission to ALUBA (association that fights against BN and AN), a psychiatric unit for eating disorders, were included: 122 BN; 62 AN; 16 EDNOS. RESULTS: Patients with eating disorders show dermatologic manifestations (alopecia, xerosis, hypertrichosis, caries, nail fragility) that are secondary to starvation. Russell's sign, seen as calluses on the dorsal aspect of the hands, is a consequence of self-induced vomiting and the local trauma of the superior incisors. This sign represents a compensatory behavior to overeating and predominates in the BN group. CONCLUSION: The recognition of dermatologic signs could be of immense value and could lead to the early diagnosis and treatment of these eating disorders.
Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Dermatopatias/epidemiologia , Dermatopatias/etiologia , Adolescente , Adulto , Distribuição por Idade , Argentina/epidemiologia , Intervalos de Confiança , Feminino , Humanos , Masculino , Prevalência , Estudos Prospectivos , Distribuição por SexoRESUMO
Two types of inclusion bodies were consistently observed under light microscopy in bean (Phaseolus vulgaris) leaf tissue infected with Bean rugose mosaic virus (BRMV), a species of the genus Comovirus, family Comoviridae. One type consisted of vacuolated inclusions found mainly in the cytoplasm of epidermal cells. The other type consisted of abundant crystalloid inclusions of different sizes and shapes found consistently in glandular hairs, guard cells, phloem tissue, xylem elements and occasionally in epidermal and mesophyll tissues. The two types of inclusion bodies stained with Azure A and Luxol Brilliant Green Bl-Calcomine Orange 2RS (O-G), and were similar to those seen to be caused by other species of comoviruses.
Assuntos
Comovirus/ultraestrutura , Fabaceae/virologia , Corpos de Inclusão Viral , Doenças das Plantas/virologia , Folhas de Planta/virologia , Plantas MedicinaisRESUMO
BACKGROUND: During congestive heart failure, desensitization of beta-adrenoceptors is related to a lower adrenergic responsiveness in the heart; little is known about alpha 1-adrenoceptors in the vasculature under this condition. We evaluated alpha 1D-adrenoceptor response in aorta and carotid arteries in a model of congestive heart failure (CHF) post-myocardial infarction. METHODS: Noradrenaline-elicited contraction was determined in endothelium-denuded arterial rings from young (10-week-old) Wistar rats in the absence and presence of the alpha 1D-adrenoceptor antagonist BMY 7378 (8-(2-(4-(2-methoxyphenyl)-1-piperazinyl) ethyl)-8-azaspiro(4,5)decane-7,9-dione dihydrochloride) in sham-operated rats and in rats that developed CHF 4 weeks or 7 months after myocardial infarction. RESULTS: In the thoracic aorta, BMY 7378 displaced noradrenaline effect to the right with pA2 values of: sham, 8.58 +/- 0.12; CHF, 8.36 +/- 0.13, and sham, 8.56 +/- 0.10; CHF, 7.99 +/- 0.13 at 4 weeks and 7 months after myocardial infarction, respectively. While in carotid arteries, the pA2 values were: sham, 8.43 +/- 0.19; CHF, 8.81 +/- 0.19, and sham, 8.35 +/- 0.18; CHF, 8.29 +/- 0.08 at 4 weeks and 7 months after myocardial infarction, respectively. When adult (7-month-old) rats were subjected to myocardial infarction, CHF was not installed and pA2 values were similar and high in both sham and infarcted rats. CONCLUSIONS: These results indicate that alpha 1D-adrenoceptors remained as the main receptors involved in contraction in aorta and carotid arteries, irrespective of CHF duration.
Assuntos
Insuficiência Cardíaca/fisiopatologia , Músculo Liso Vascular/fisiopatologia , Infarto do Miocárdio/fisiopatologia , Receptores Adrenérgicos alfa 1/fisiologia , Antagonistas de Receptores Adrenérgicos alfa 1 , Agonistas alfa-Adrenérgicos/farmacologia , Antagonistas Adrenérgicos alfa/farmacologia , Animais , Aorta Torácica/efeitos dos fármacos , Aorta Torácica/fisiopatologia , Peso Corporal , Artérias Carótidas/efeitos dos fármacos , Artérias Carótidas/fisiopatologia , Modelos Animais de Doenças , Insuficiência Cardíaca/patologia , Hemodinâmica , Técnicas In Vitro , Masculino , Contração Muscular/efeitos dos fármacos , Músculo Liso Vascular/efeitos dos fármacos , Infarto do Miocárdio/patologia , Norepinefrina/farmacologia , Tamanho do Órgão , Piperazinas/farmacologia , Ratos , Ratos Wistar , Vasoconstritores/farmacologiaRESUMO
Se analizan los aspectos dermatológicos de 100 pacientes con patología de la conducta alimentaria, de los cuales 60 correspondieron a bulimia nerviosa (BN) y 40 a anorexia nerviosa (AN). La mayoría eran de sexo femenino, con edad promedio de 17 años. Fueron características comunes de ambas patologías xerosis, acné, alopecia y caries, destacándose en BN dermatitis artefacta, carotenodermia y signo de Russell y en AN hipertricosis y amenorrea. Se enfatiza la importancia del reconocimiento de estos cuadros que están en crecimiento y donde el diagnóstico precoz es fundamental para iniciar un tratamiento adecuado
Assuntos
Humanos , Feminino , Masculino , Adolescente , Adulto , Anorexia Nervosa/complicações , Bulimia/complicações , Manifestações Cutâneas , Transtornos da Alimentação e da Ingestão de Alimentos/complicaçõesRESUMO
Se analizan los aspectos dermatológicos de 100 pacientes con patología de la conducta alimentaria, de los cuales 60 correspondieron a bulimia nerviosa (BN) y 40 a anorexia nerviosa (AN). La mayoría eran de sexo femenino, con edad promedio de 17 años. Fueron características comunes de ambas patologías xerosis, acné, alopecia y caries, destacándose en BN dermatitis artefacta, carotenodermia y signo de Russell y en AN hipertricosis y amenorrea. Se enfatiza la importancia del reconocimiento de estos cuadros que están en crecimiento y donde el diagnóstico precoz es fundamental para iniciar un tratamiento adecuado (AU)
Assuntos
Humanos , Feminino , Masculino , Adolescente , Adulto , Anorexia Nervosa/complicações , Bulimia/complicações , Manifestações Cutâneas , Transtornos da Alimentação e da Ingestão de Alimentos/complicaçõesRESUMO
Normal and pathological human nasal mucous biopsies were used and obtained surgically. Pathological one were taken from cocaine addicted patients who had been using this drug during many years mainly by snorting via. From the clinical point of view all patients presented similar symptoms among which the most common were acute and chronic rhinitis, sneeze and bleeding. All cases include showed evident tissue disorganization that ultrastructurally present partial or total lost of cillia as well as disruption between epithelia and basal lamina. Although, normal tissue was substituted by abundant fibrous tissue explaining why this tissue lost its normal function. All described alterations were analyzed by transmission electron microscope and scanning electron microscope.
Assuntos
Cocaína , Mucosa Nasal/ultraestrutura , Transtornos Relacionados ao Uso de Substâncias/patologia , Adolescente , Adulto , Biópsia , Humanos , Microscopia Eletrônica , Microscopia Eletrônica de Varredura , Mucosa Nasal/patologiaRESUMO
El angioma serpiginoso es una rara afeccion,nevoide,cronica,caracterizada por una ectasia vascular progresiva,localizada en dermis papilar y subpapilar. Desde el punto de vista clinico se observan lesiones maculosa,rojas,puntiformes,que adoptan disposicion serpiginosa. Se presenta el caso de un ninio de 10 anios,localizado en miembros inferiores, con el cual se adopto conducta expectante. Se describen la clinica y la histopatologia de la entidad y se establecen diagnosticos diferenciales con dermatosis purpuricas y pigmentarias,angioqueratoma corporal difuso,angioqueratoma circunscripto,telangiectasia nevoide y nevo flameo
Assuntos
Criança , Humanos , Masculino , Angioceratoma/patologia , Diagnóstico Diferencial , Telangiectasia/patologia , Extremidades/patologiaRESUMO
El angioma serpiginoso es una rara afeccion,nevoide,cronica,caracterizada por una ectasia vascular progresiva,localizada en dermis papilar y subpapilar. Desde el punto de vista clinico se observan lesiones maculosa,rojas,puntiformes,que adoptan disposicion serpiginosa. Se presenta el caso de un ninio de 10 anios,localizado en miembros inferiores, con el cual se adopto conducta expectante. Se describen la clinica y la histopatologia de la entidad y se establecen diagnosticos diferenciales con dermatosis purpuricas y pigmentarias,angioqueratoma corporal difuso,angioqueratoma circunscripto,telangiectasia nevoide y nevo flameo