Concepção, construção e estudo de uma unidade de demonstração de demonstração de escoamento variável sob pressão : aríete hidráulico

Neste trabalho apresenta-se um estudo sobre um dispositivo de bombagem o aríete hidráulico, também conhecido vulgarmente por carneiro hidráulico, sendo a parte experimental constituída por três fases, concepção, construção e montagem de um carneiro hidráulico. Tendo como base a construção de uma unidade didáctica do carneiro hidráulico, este foi desenvolvido em acrílico. A escolha deste material foi efectuada de modo a permitir a total visualização do funcionamento do equipamento. No laboratório realizou-se a construção do mesmo, na qual se produziu um corpo principal adaptável a variáveis tais como, dimensão da câmara de ar, diâmetro das tubagens, comprimento das tubagens, aplicação de outro tipo de material Aço Inox, e a variação do ângulo (ângulo efectuado entre a tubagem de alimentação e a horizontal). Posteriormente realizaram-se um conjunto de experiências, para a cota de elevação com 4.7 m. As experiências tinham como objectivo analisar a influência de variáveis como, o curso da válvula de desperdício que alternou de 2.5 a 11 mm, as cotas de alimentação (h) de 2, 2.5 e de 3 m, os caudais de alimentação (Qh), entrega (QH) e desperdício (QD), com ângulos de 40º e 60º e tubagem de 25 e 30 mm. Os resultados obtidos tinham como finalidade explorar o desempenho e o rendimento desta máquina para diferentes operações. On this paper work it'll be done an experimental study about the hydraulic ram pump, on which the experimental part is constituted on three phases, conception, construction and assembly of the teaching unity of experimental demonstration. Based on the construction of a teaching unit of the ram, this was done in acrylic. The choice of this material was made to allow a full view of the operation of equipment. On the laboratory there was the construction of itself, on which it was produced a main body adaptable to variables such as, air chamber dimension, diameter of the pipe, length of pipe, use of another type of material (Inox Steel, PVC), angle of feeding and several gaps. Afterwards, it took place rehearsals to analyze the possible influences of each alteration performed on the ram. These rehearsals were made with a quota of feeding of 2 m, 2.5 m and 3 m, in other words, between each rehearsal there is a difference of 0.5m of high. After it the results were analyzed and discussed. Therefore we analyzed that the hydraulic ram can be employed by rural producers, in regions where the access conventional energy network is limite

MLPA analysis in a cohort of patients with autism

Background: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital. Results: In this study 150 unrelated children with autism spectrum disorders were analysed for copy number variation in specific regions of chromosomes 15, 16 and 22, using MLPA. All the patients had been previously studied by conventional karyotype and fluorescence in situ hybridization (FISH) analysis for 15(q11.2q13) and, with these techniques, four alterations were identified. The MLPA technique confirmed these four and identified further six alterations by the combined application of the two different panels. Conclusions: Our data show that MLPA is a cost effective straightforward and rapid method for detection of imbalances in a clinically characterized population with autism. It contributes to strengthen the relationship between genotype and phenotype of children with autism, showing the clinical difference between deletions and duplications

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients

Background: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV). Results: All the analyzed 1000 patients had at least one CNV independently of its clinical significance. Most of them, as expected, were alterations already reported in the DGV for normal individuals (class IV) or without known coding genes (class III-B). In approximately 14 % of the patients an imbalance involving known coding genes, but with partially overlapping or low frequency of CNVs described in the DGV was identified (class IIIA). In 10.4 % of the patients a pathogenic CNV that explained the phenotype was identified consisting of: 40 class I imbalances, 44 class II de novo imbalances and 21 class II X-chromosome imbalances in male patients. In 20 % of the patients a familial pathogenic or potentially pathogenic CNV, consisting of inherited class II imbalances, was identified that implied a family evaluation by the clinical geneticists. Conclusions: As this interpretation can be sometimes difficult, particularly if it is not possible to study the parents, using the proposed classification we were able to prioritize the multiple imbalances that are identified in each patient without immediately having to classify them as pathogenic or benign

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

BACKGROUND: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV). RESULTS: All the analyzed 1000 patients had at least one CNV independently of its clinical significance. Most of them, as expected, were alterations already reported in the DGV for normal individuals (class IV) or without known coding genes (class III-B). In approximately 14 % of the patients an imbalance involving known coding genes, but with partially overlapping or low frequency of CNVs described in the DGV was identified (class IIIA). In 10.4 % of the patients a pathogenic CNV that explained the phenotype was identified consisting of: 40 class I imbalances, 44 class II de novo imbalances and 21 class II X-chromosome imbalances in male patients. In 20 % of the patients a familial pathogenic or potentially pathogenic CNV, consisting of inherited class II imbalances, was identified that implied a family evaluation by the clinical geneticists. CONCLUSIONS: As this interpretation can be sometimes difficult, particularly if it is not possible to study the parents, using the proposed classification we were able to prioritize the multiple imbalances that are identified in each patient without immediately having to classify them as pathogenic or benign