Um caso de possível predisposição genética à síndrome mielodisplástica

29629

Middle-Class Mass Housing in Germany

The article presents a study on the conceptual and contextual framework of the middle class mass housing (MCMH) neighbourhoods in Germany, contributing to the cross-geographical debate at a broader European level. It complements the case studies presented in this publication, providing a wider framework for their better understanding. The aim of the study is twofold: (1) to contribute to a broader awareness of the specificities of MCMH in Germany, compiling historical description that details background on its emergence and changes to MCMH over time, in particular in the second half of the 20th century; and (2) to provide basic information about the typologies and characteristics thereof, and to give an insight into the specific problems inherent to the conservation and renewal of the MCMH in Germany

Bioinformatics analysis of circulating miRNAs related to cancer following spinal cord injury

Patients with spinal cord injury (SCI) have an increased risk of developing esophageal, bladder and hematologic malignancies compared with the normal population. In the present study, we aimed to identify, through in silico analysis, miRNAs and their target genes related to the three most frequent types of cancer in individuals with SCI. In a previous study, we reported a pattern of expression of miRNAs in 17 sedentary SCI males compared with 22 healthy able-bodied males by TaqMan OpenArray. This list of miRNAs deregulated in SCI patients was uploaded to miRWALK2.0 to predict the target genes and pathways of selected miRNAs. We used Cytoscape software to construct the network displaying the miRNAs and their gene targets. Among the down-regulated miRNAs in SCI, 21, 19 and 20 miRNAs were potentially associated with hematological, bladder and esophageal cancer, respectively, and three target genes (TP53, CCND1 and KRAS) were common to all three types of cancer. The three up-regulated miRNAs were potentially targeted by 18, 15 and 10 genes associated with all three types of cancer. Our current bioinformatics analysis suggests the potential influence of several miRNAs on the development of cancer in SCI. In general, these data may provide novel information regarding potential molecular mechanisms involved in the development of cancer among individuals with SCI. Further studies aiming at understanding how miRNAs contribute to the development of the major cancers that affect patients after SCI may help elucidate the role of these molecules in the pathophysiology of the disease.39CAPES - Coordenação de Aperfeiçoamento de Pessoal e Nível SuperiorFAPESP – Fundação de Amparo à Pesquisa Do Estado De São PauloSem informação2017/23563-

Lack of lethal and sublethal effects of Cry1Ac Bt-toxin on larvae of the stingless bee Trigona spinipes

Abstract -Stingless bees, particularly Trigona spinipes, are important pollinators in tropical ecosystems and are potentially affected by environmental contaminants. In this study, we tested the possible negative effects on T. spinipes larvae of the ingestion of a diet contaminated with Cry1Ac Bt-toxin. This toxin is expressed in genetically modified cotton plants. A method of rearing stingless bee larvae is described in this paper. The larvae were provided with either pure larval diet, diluted larval diet, or larval diet diluted in a Cry1Ac solution compatible with the lethal pest-exposure level (50 μg/mL). Cry1Ac ingestion did not impair the development of worker larvae, but the diluted diet slightly increased larval mortality. These results indicate that harmful effects on stingless bee larvae due to the ingestion of pollen-expressed Cry1Ac toxin are unlikely under field conditions. Bacillus thuringiensis toxin / transgenic plants / environmental impact / native pollinator / risk assessmen

Análise clínica e laboratorial para a identificação da Talassemia Alfa

14214

Avanços na qualidade de vida em portadores de narcolepsia

Narcolepsy is a chronic neurologic disease characterized by excessive daytime sleepiness and cataplexy, with daily activities impairment. The present report describes the main update data of narcolepsy etiology and Quality of Life. The recent advances show that narcolepsy is due to low orexin secretion by lateral hypothalamic neurons. Narcolepsy is accompanied by decrease in Quality of Life, with the impaiment of phsical and emotional funcions, reducing social life. The impact of narcolepsy include the burden of social, domestic, work and educational déficits. Narcolepsy is also accompanied by high levels of traffic, work environment, and home accidents. The excessive daytime sleepiness is the main factor that impairs Quality of Life in narcoleptics.cataplejía, comprometiendo las actividades diarias. La presente publicación realiza una actualización de los principales avances enfocando principalmente la etiología y el comprometimiento de la calidad de vida. Los avances en la etiología evidencian que la narcolepsia se debe al déficit de secreción del orexina, un neurotransmisor estimulante descrito recientemente por las neuronas situadas en el hipotálamo lateral. La narcolepsia lleva al comprometimiento de la calidad de vida, con comprometimiento de funciones físicas y emocionales, reduciendo la vida social. El impacto de la narcolepsia lleva al déficit en las actividades domésticas, sociales, del trabajo y la vida escolar. Es caracterizada por tasas elevadas de accidentes, tanto automovilísticos, como en el trabajo y en el hogar. La somnolencia diurna excesiva es el síntoma de la narcolepsia que más perjudica la calidad de vida.La narcolepsie est une maladie neurologique chronique qui se caractérise par une somnolence diurne excessive et par des crises de cataplexie, en compromettant les activités quotidiennes.  Cette publication actualise les avancées principales, focalisant principalement l’étiologie et ce qui compromet la Qualité de Vie. Les avancées en étiologie mettent en évidence que la narcolepsie est due à un déficit dans la sécrétion d’orexine - un neurotransmetteur stimulant décrit récemment – par les neurones situés dans l’hypothalamus latéral. La narcolepsie compromet la Qualité de Vie, avec compromission de fonctions physiques et émotionnelles, en réduisant la vie sociale. L'impact de la narcolepsie mène à un déficit dans les activités domestiques, sociales, du travail et scolaire. Elle s'accompagne de taux élevés d'accidents, tant d'automobiles, comme au travail et au foyer. La somnolence diurne excessive est le symptôme de la narcolepsie qui le plus nuit à la Qualité de Vie.A narcolepsia é uma doença neurológica crônica que se caracteriza por levar à sonolência diurna excessiva e por crises de cataplexia, comprometendo as atividades diárias. A presente publicação realiza uma atualização dos principais avanços focalizando principalmente a etiologia e o comprometimento da Qualidade de Vida. Os avanços na etiologia evidenciam que a narcolepsia se deve a déficit de secreção de orexina – um neurotransmissor estimulante descrito recentemente – pelos neurônios situados no hipotálamo lateral. A narcolepsia leva ao comprometimento da Qualidade de Vida, com comprometimento de funções físicas e emocionais, reduzindo a vida social. O impacto da narcolepsia leva ao déficit nas atividades domésticas, sociais, do trabalho e escolares. Acompanha-se de taxas elevadas de acidentes, tanto automotivos, como no trabalho e no lar. A sonolência diurna excessiva é o sintoma da narcolepsia que mais prejudica a Qualidade de Vida

Glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) genetic polymorphisms and atopic asthma in children from Southeastern Brazil

Xenobiotics can trigger degranulation of eosinophils and mast cells. In this process, the cells release several substances leading to bronchial hyperactivity, the main feature of atopic asthma (AA). GSTM1 and GSTT1 genes encode enzymes involved in the inactivation of these compounds. Both genes are polymorphic in humans and have a null variant genotype in which both the gene and corresponding enzyme are absent. An increased risk for disease in individuals with the null GST genotypes is therefore, but this issue is controversial. The aim of this study was to investigate the influence of the GSTM1 and GSTT1 genotypes on the occurrence of AA, as well as on its clinical manifestations. Genomic DNA from 86 patients and 258 controls was analyzed by polymerase chain reaction. The frequency of the GSTM1 null genotype in patients was higher than that found in controls (60.5% versus 40.3%, p = 0.002). In individuals with the GSTM1 null genotype the risk of manifested AA was 2.3-fold higher (95%CI: 1.4-3.7) than for others. In contrast, similar frequencies of GSTT1 null and combined GSTM1 plus GSTT1 null genotypes were seen in both groups. No differences in genotype frequencies were perceived in patients stratified by age, gender, ethnic origin, and severity of the disease. These results suggest that the inherited absence of the GSTM1 metabolic pathway may alter the risk of AA in southeastern Brazilian children, although this must be confirmed by further studies with a larger cohort of patients and age-matched controls from the distinct regions of the country