Estudo de alelos variantes do gene da tirosina kinase B (NTRK2) na epilepsia do lobo temporal

Introdução O gene NTRK2 codifica um receptor pertencente a família de neurotrofinas Tirosina Kinase, conhecido como TrkB. O TrkB é um receptor de membrana com propriedades relacionadas a sinalização e diferenciação celular que tem sido envolvido em transtornos neuropsiquiátricos. Objetivo Estudar as freqüências de alelos variantes do gene NTRK2 em pacientes com epilepsia do lobo temporal (ELT) comparado a controles sem epilepsia. O impacto desses polimorfismos em variáveis clínicas e psiquiátricas dos pacientes com ELT também foi analisado. Métodos Inicialmente, realizamos estudo de caso-controle comparando as freqüências dos polimorfismos do TrkB em 198 pacientes Brasileiros com origem Européia com ELT e 200 controles sem epilepsia. Na segunda parte, foi avaliado o impacto das variantes alélicas em características clínicas e eletroencefalográficas dos pacientes com epilepsia. Os seguintes polimorfismos foram avaliados: rs1867283A>G, rs10868235C>T, rs1147198G>T, rs11140800A>T, rs1187286G>T, rs2289656A>G, rs1624327A>G, rs1443445A>G, rs3780645C>T, rs2378672C>T. Por fim, 163 pacientes com ELT foram avaliados com uma entrevista psiquiátrica (SCID-I) para detecção de transtornos psiquiátricos ao longo da vida e esses achados foram analisados em relação aos polimorfismos do gene NTRK2. Resultados Pacientes com epilepsia do lobo temporal evidenciaram um aumento significativo de Timina em homozigose no SNP rs10868235 do gene NTRK2 quando comparados ao grupo controle (O.R.=1.90; 95%IC=1.17-3.09; p= 0.01). Não foram encontradas outras diferenças entre pacientes e controles. Pacientes com Adenina em homozigose no SNP rs1443445 do gene NTRK2 tiveram uma média de idade de início de crises mais baixa quando comparados aos demais pacientes (pG, rs10868235C>T, rs1147198G>T, rs11140800A>T, rs1187286G>T, rs2289656A>G, rs1624327A>G, rs1443445A>G, rs3780645C>T, rs2378672C>T. At last, 163 TLE patients were evaluated with a psychiatry interview (SCID-I) to detect lifelong psychiatric comorbidities and this findings were analyzed in relation to NTRK2 polymorphisms. Results Patients with temporal lobe epilepsy showed a significant increase of thymine homozygosis in the rs10868235 NTRK2 SNP when compared with the control group (O.R.=1.90; 95%CI=1.17-3.09; p= 0.01) . There were no other differences between patients and controls. Patients with adenine homozygosis in the rs1443445 NTRK2 SNP showed an earlier mean age of seizure onset when compared with other patients (p<0.01). Also, we observed that thymine was significantly more frequent in the rs3780645 NTRK2 SNP in patients that needed polytheraphy for seizure control when compared to those in monotherapy. This finding perhaps reflects an increased difficulty to exert seizure control in this group of patients (O.R.= 4.13; 95%CI= 1.68-10.29; p= 0.001). We also analyzed 163 patients in the TLE group in relation to presence of psychiatric comorbidities. Psychiatric evaluation was performed using the SCID-I (Structured Clinical Interview for DSM-IV, Axis I). Seventy six patients (46.6%) showed mood disorders. Female sex, anxiety disorders, A/A genotype in rs1867283 NTRK2, and C/C genotype in the rs10868235 NTRK2 gene were all independently associated with mood disorders in these patients. Depressive disorders mostly accounted for these results. After logistic regression, independent risk factors for depressive disorder in TLE were female sex (OR=2.54; 95%CI=1.18-5.47; p=0.017), presence of concomitant anxiety disorders (OR=3.30; 95%CI=1.58-6.68; p=0.001), A/A genotype in rs1867283 NTRK2 (OR=2.84; 95%CI=1.19-6.80; p=0.019), and C/C genotype in rs10868235 NTRK2 gene (OR=2.74; 1.28-5.88; p=0.010). Conclusions We observed that patients with epilepsy showed a difference in NTRK2 allelic distribution when compared with controls without epilepsy, and that NTRK2 variability influenced age of seizure onset and perhaps pharmacologic response to seizure control. Female sex, anxiety disorders and allelic variations in NTRK2 gene were all independent risk factors for mood disorder or depressive disorders in TLE. . As far as we know, this is the first study showing an association between NTKR2 allele variants in temporal lobe epilepsy. We believe that other studies in this venue will shade some light on the molecular mechanisms involved in temporal epileptogenesis. If our results were confirmed, NTRK2 gene allele variants could be used as a biomarker for depressive disorders in patients with temporal lobe epilepsy

Ozono en la esterilización de productos para atención de salud: revisión integradora de la literatura

Estudo de revisão integrativa da literatura com o objetivo de buscar evidências que subsidiem a incorporação do ozônio como agente esterilizante de produtos para saúde. A busca foi realizada nas bases MEDLINE, SCOPUS, COCHRANE, COMPENDEX, INSPEC E ENGINEERING RESEARCH DATABASE, utilizando-se os descritores ozone e sterilization. Foram obtidas cinco publicações, entre 1990 e 2008, que testaram o ozônio como esterilizante. Todas utilizaram o mesmo tipo de investigação (experimental laboratorial) e alcançaram esterilização pelo ozônio, porém com variados escopos e produtos testados, além de diversos procedimentos metodológicos. Tendo em vista a incessante tecnologia de novos produtos, com ampla variedade de conformações e matéria-prima, os achados denotam o ozônio um método promissor, porém ainda em fase inicial de investigação. Mais estudos experimentais ainda são necessários, de maneira a subsidiar evidências mais amplas sobre suas possibilidades e limitações.The objective of this integrative literature review was to find evidence to support using ozone as a sterilizing agent for health products. The search was performed on the following bases: MEDLINE, SCOPUS, COCHRANE, COMPENDEX, INSPEC and ENGINEERING RESEARCH DATABASE; using ozone and sterilization as descriptors. Five articles were found between 1990 and 2008, which tested ozone as a sterilizer. All studies used the same type of investigation (experimental laboratory study) and achieved sterilization with ozone, but with different scopes and products, besides using different methodological procedures. Considering the ever-growing technology for new products, with the vast range of forms and materials, the findings point at ozone sterilization as a promising method, but still in an initial phase of investigation. Further experimental studies are needed to provide broader evidence regarding the possibilities and limitations of ozone sterilization.Estudio de revisión integradora de literatura objetivando buscar evidencias que respalden la incorporación del ozono como agente esterilizante de productos para la salud. La búsqueda se realizó en las bases MEDLINE, SCOPUS, COCHRANE, COMPENDEX, INSPEC y ENGINEERING RESEARCH DATABASE, utilizándose los descriptores ozone y sterilization. Se rescataron cinco publicaciones entre 1990 y 2008 que testearon al ozono como esterilizante. Todas utilizaron el mismo tipo de investigación (experimental laboratorial) y consiguieron la esterilización mediante el ozono; sin embargo, con variados objetivos y productos probados, además de diversidad de procedimientos metodológicos. Teniendo en cuenta la alta tecnología de nuevos productos, con amplia diversidad de conformaciones y materias primas, los hallazgos determinan al ozono como método promisorio, no obstante que aún esté en fase inicial de investigación. Se necesitan más estudios experimentales, para respaldar con evidencias ampliadas sus posibilidades y limitaciones

Effects of work gymnastics on teleassistance employees

A ginástica laboral (GL), definida como a prática orientada de exercícios físicos dentro do próprio local de trabalho, com duração de 15 a 20 minutos, visa a prevenção de dores corporais e vícios posturais, aumenta a disposição para o trabalho e promove uma maior integração no ambiente de trabalho. Sendo assim, o objetivo desse estudo foi avaliar os efeitos da GL sobre as queixas dos trabalhadores quando a mesma é aplicada por fisioterapeutas ou por monitores (funcionários). Método: Para este estudo foram utilizados três instrumentos: Questionário de Topografia e Intensidade da dor; questionário de avaliação da GL junto aos trabalhadores e o de identificação formulado especificamente para este estudo. A amostra foi composta por 24 funcionários de um teleatendimento, divididos em dois grupos: turno manhã (n=10) e turno tarde (n=14). A prática orientada tinha duração de 15 minutos, 4 vezes semanais, em um período de 4 meses, perfazendo um total de 68 sessões de GL. Para análise estatística foi utilizado o Wilcoxon Signed Based Ranks e o Microsoft Excel. Resultado: Foi constatada uma melhora significante na percepção de dor do grupo de funcionários orientados pelo fisioterapeuta (p=0,034), além da melhora da disposição para o trabalho, da interação com os colegas e satisfação com a empresa, diminuição do estresse e do cansaço. Conclusão: O programa de GL pode ser visto como mais uma ferramenta para o beneficio da saúde e bem-estar dos trabalhadores atuando em um nível de prevenção primária.Work gymnastics (WG) is defined as the guided practice of physical exercises at the workplace, aiming at preventing body pains and posture weaknesses, increasing disposition to work, and promoting a greater integration among employees. Thus, the purposes of this study were to evaluate the WG effects on teleassistance employees of a health care insurance service, contributing to the reduction of these employees’ muscular pains and to investigate the difference of WG results when applied by either monitors or physical therapists. Methods: Three questionnaires were employed: Identification; Pain Topography and Intensity; and WG Evaluation, together with employees. Wilcoxon Signed Based Ranks was used for statistical analysis and Microsoft Excel, 2001 was used for the descriptive analysis. Guided practice lasted 15 minutes, 4 times a week for 4 months. The sample consisted of 24 teleassistance employees divided into two groups: morning shift, guided by a monitor (n=10) and afternoon shift, guided by a physical therapist (n=14). Results: Results have shown a significant improvement in pain perception only in the physical therapist-guided group (p=0.034); improvement regarding disposition to work, interaction with coworkers and satisfaction with the company, as well as stress and fatigue reduction were observed in both groups. Conclusion: We conclude that the WG program may be considered an easily implemented low-cost tool with apparently positive results on the health of employees, acting at the primary prevention level

Elaboración de manjar de leche con diferentes niveles de concentración de café, como alternativa de desarrollo Agroempresarial

The study of the quality evaluation of raw materials, the analysis of the physical-chemical reactions in the production process and the optimization of the technological processes applied in the agroindustry have served as a starting point for the generation of new products (Saltos 2010). The objective of this research work is to determine the different concentration levels of aged coffee of the Coffea canephora variety and its performance in the production of milk delicacy. In which raw milk was used in accordance with the requirements established in the NTE INEN technical standard (9:2008) in the La Maná canton and its areas of influence, urban parishes (La Maná, El Triumph and El Carmen) and rural parishes (Pucayacu, Guasanga ), consecutively the coffee was obtained from the “Sacha Wiwa” Experimental Center belonging to the UTC “La Maná” extension. For the process of making the delicacy, a flow diagram was followed in compliance with the NTE INEN technical standard (9:2008), receiving the raw material, filtering, cooking, mixing and concentrating (98 °C and 65 °brix) adding the coffee solution. in 3 different concentrations than A1. 0.25%; A2. 0.50% and A3. 0.75% of the total volume of milk after cooling, packaging, labeling and storage. Finally obtaining a yield of 40-45% of the total volume in all its treatments. Finally, a five-point sensory analysis was carried out: smell, flavor, color, texture and acceptability in a sample of 115 people belonging to the agroindustrial engineering career.El estudio de la evaluación calidad de las materias primas, el análisis de las reacciones físico químicas en el proceso de producción y la optimización de los procesos tecnológicos aplicados en la agroindustria han servido de punto de partida para la generación nuevos productos (Saltos 2010). El presente trabajo de investigación tiene como objetivo determinar los diferentes niveles de concentración de café pasado de la variedad Coffea canephora y su rendimiento en la elaboración de manjar de leche. En la cual se utilizó leche cruda conforme los requisitos establecidos en la norma técnica NTE INEN (9:2008) en el cantón La Maná y sus zonas de influencia parroquias urbanas (La Maná, El triunfo y El Carmen) y rurales (Pucayacu, Guasanga), consecutivamente el café se obtuvo &nbsp;&nbsp;&nbsp;&nbsp;del Centro Experimental “Sacha Wiwa” perteneciente a la UTC extensión “La Maná”. Para el proceso de elaboración de manjar se siguió un diagrama flujo cumpliendo norma técnica NTE INEN (9:2008) realizando la recepción de materia prima, filtrado, cocción, mezclado y concentrado (98 °C y 65 °brix) añadiendo la solución de café en 3 concentraciones diferentes al A1. 0,25%; A2. 0,50% y A3. 0.75% del volumen total de leche posterior al enfriado, envasado, etiquetado y almacenamiento. Obteniéndose finalmente un rendimiento del 40-45% del volumen total en todos sus tratamientos. Finalmente se realizó un análisis sensorial de de cinco puntos: olor, sabor, color, textura y aceptabilidad en una muestra de 115 personas pertenecientes a la carrera de ingeniería agroindustrial&nbsp

Síndrome do duplo-córtex : aspectos de neuroimagem e relato de caso

A síndrome do córtex duplo (DCS) ou a heterotopia da banda subcortical é uma malformação cortical congênita rara. Ela afeta principalmente o sexo feminino, mais frequentemente por mutações causadas no gene da duplacortina, transmitidas em um padrão de herança ligado ao X. Durante o desenvolvimento embrionário, há a migração aberrante de neurônios, resultando em uma camada extra de neurônios sob a matéria cinzenta normal do córtex cerebral. O resultado neurológico correlaciona-se com a espessura da banda heterotópica, variando de retardo mental grave e epilepsia refratária a inteligência normal com ou sem epilepsia. Apresentamos o caso de uma jovem com DCS com epilepsia refratária, deterioração do eletroencefalograma (EEG), crises epilépticas subclínicas e nenhum declínio cognitivo, contrariando os padrões usuais de apresentação da doença e desafiando o conceito de que a atividade epiléptica e as anormalidades epileptiformes do EEG contribuem para graves distúrbios cognitivos e comportamentais

Home-based transcranial direct current stimulation for the treatment of symptoms of depression and anxiety in temporal lobe epilepsy : a randomized, double-blind, sham-controlled clinical trial

We conducted a double-blind randomized clinical trial in order to examine the effects and the safety of home-based transcranial direct current stimulation (tDCS) on depressive and anxious symptoms of patients with temporal lobe epilepsy (TLE). We evaluated 26 adults with TLE and depressive symptoms randomized into two different groups: active tDCS (tDCSa) and Sham (tDCSs). The patients were first submitted to 20 sessions of tDCS for 20 min daily, 5 days a week for 4 weeks and then received a maintenance tDCS application in the research laboratory once a week for 3 weeks. The intensity of the current was 2 mA, applied bilaterally over the dorsolateral prefrontal cortex, with the anode positioned on the left side and the cathode on the right side. Participants were evaluated on days 1, 15, 30, and 60 of the study using the Beck Depression Inventory II (BDI). A follow-up evaluation was performed 1 year after the end of treatment. They were also evaluated for quality of life and for anxious symptoms as secondary outcomes. The groups did not differ in clinical, socioeconomic or psychometric characteristics at the initial assessment. There was no statistically significant difference between groups regarding reported adverse effects, seizure frequency or dropouts. On average, between the 1st and 60th day, the BDI score decreased by 43.93% in the active group and by 44.67% in the Sham group (ΔBDIfinal – initial = -12.54 vs. -12.20, p = 0.68). The similar improvement in depressive symptoms observed in both groups was attributed to placebo effect and interaction between participants and research group and not to tDCS intervention per se. In our study, tDCS was safe and well tolerated, but it was not effective in reducing depressive or anxiety symptoms in patients with temporal lobe epilepsy

The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies

Funding Information: This study was supported by the funding through project MyoSpA, from iNOVA4 health. PM was supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). Publisher Copyright: © Copyright © 2021 Pimenta, Mateus, Rodrigues-Manica, Pinheiro-Torres, Neto, Domingues, Lage Crespo, Sardoo, Machado, Branco, Silva and Pimentel-Santos.PBackground: Spondyloarthritis (SpA) are the most common group of chronic inflammatory rheumatic diseases affecting about 1.5% of the adult Caucasian population. Low back pain is the most common symptom. The aetiopathogenesis of SpA is multifactorial, with well-known genetic and environmental contributions. Furthermore, muscle properties might also be involved in the pathophysiological process and these could be modulated by the genetic background. Alpha-actinin-3 (ACTN3) and Vitamin D receptor (VDR) genes are well-known genes related with muscle performance. Our aim was to analyze four SNPs of these genes and to evaluate their influence in axial SpA (axSpA) susceptibility, phenotype and muscle properties. Methods: We performed a pilot study based on case-control approach involving 56 participants: 28 axSpA patients and 28 healthy controls matched by age, gender and levels of physical activity. Clinical, epidemiological and muscle characterization data—muscle physical properties (stiffness, tone, and elasticity), strength, mass, and performance, were collected. Two different muscles were considered for analysis, the Multifidus and Gastrocnemius. Four SNPs of ACTN3 (rs1815739) and VDR (rs2228570, rs731236, and rs7975232), were selected, analyzed and correlated with clinical, epidemiological and muscle characterization data. Results: In total, 51 individuals (27 axSpA patients and 24 matched controls) were eligible for further genetic analysis, 66.7% being male and with a mean age of 36 years. Muscle physical properties, muscle strength and muscle mass were similar in both groups; however, axSpA patients showed a decrease in muscle performance. None of the studied SNPs were associated with disease susceptibility/phenotype, muscle physical properties, muscle strength or muscle mass. However, ACTN3 rs1815739 and VDR rs2228570 were shown to be associated with muscle performance. Conclusion: Our results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA.publishersversionpublishe