984 resultados para TANDEM DUPLICATION


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Diplomityössä tavoitteena oli tutkia kapearailojauhekaaritekniikan soveltuvuutta konepajakäyttöön ja sen vaikutusta hitsauksen tuottavuuteen sekä hitsin mekaanisiin ominaisuuksiin. Työ tehtiin vertailukokeilla, jossa koehitsaukset suoritettiin eri aineenpaksuuksille siten, että jokaiselle tutkimuksen kohteena olleelle materiaalille tehtiin yksi hitsaus käytössä olevalla jauhekaaritekniikalla, jolloin saatiin vertailukohde, johon uutta kapearailotekniikkaa verrattiin. Tulokset osoittivat, että kapearailotekniikalla 1 palko/palkokerros aineenpaksuudeltaan Pl. 60 mm koekappale saatiin hitsattua n. 39 % nopeammin verrattuna perinteiseen tandem -hitsaukseen. Kyseisellä aineenpaksuudella lisäainelangan kulutus oli n. 41 % ja jauheen kulutus n. 71 % pienempi verrattuna perinteiseen X- railohitsaukseen tandem -menetelmällä. Lisäksi tuli esille, että ”palkoa palonpäälle” -tekniikka on kapearailotekniikoista tehokkain, sillä 2 palkoa/palkokerros menetelmässä railon leveyttä jouduttiin leventämään, jolloin kapearailotekniikan pieni railotilavuus menetettiin. Lisäaineen kulutus tälläkin menetelmällä jäi pienemmäksi verrattuna X- railohitsaukseen. Ennalta pelättyä kuonan irtoamisongelmaa ei kapearailohitsauksessa havaittu, vaan kuona irtosi ongelmitta railon kyljistä. Lisäksi kapearailotekniikalla hitsattujen hitsien lujuudet olivat vertailukelpoiset tandem- ja yksilankamenetelmällä hitsattujen hitsien kanssa.

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Ohjelmistotuotannon yleinen ongelma on se, että toimitusprojektien läpivientiajat pitkittyvät. Kilpailun kiristyessä ohjelmistoalalla on alettu kiinnittää erityistä huomiota projektien eri vaiheiden tehostamiseen. Process Vision Oy kehittää energiatietojärjestelmiä Suomen energia-alan yrityksille. Yrityksessä on kehitetty vuonna 2010 palvelumalli, jonka avulla pyritään nopeuttamaan toimitusprojektien eri vaiheita. Valtioneuvosto valmisteli vuonna 2009 tuntimittausasetuksen, joka määritti sääntöjä mittaustiedon hallintaan energia-alalla. Kyseisen asetuksen pohjalta Energiateollisuus julkaisi vuonna 2010 ohjeistuksen, joka selkeyttää asetuksen sisällön vaatimuksia jakeluverkonhaltijoille ja sähkön myyjille. Process Vision Oy on valmistellut ohjeistuksen pohjalta tuntimittauspaketin, joka sisältää ohjeistuksen mukaiset toiminnot GENERIS-järjestelmässä. Tässä diplomityössä määritellään Process Vision Oy:n palvelumallin mukaiset standardikomponentit tuntimittauspaketin toimitusprojekteja varten. Työn tavoitteena on kehittää mahdollisimman pitkälle tuotteistettu tuntimittauspaketin toimitus uusille ja vanhoille asiakkaille. Työn lopussa pohditaan miten hyvin palvelumalli soveltuu tuntimittauspaketin toimitusprojekteihin. Lisäksi työssä kartoitetaan yrityksessä käytössä olevien automatisointityökalujen kehitystarpeita. Työn tuloksena saatiin määriteltyä GENERIS-objektit ja konfiguraatiot, jotka toimitetaan tuntimittauspaketin mukana. Työn ohessa sisällytettiin yrityksen Suomen taseselvitysjärjestelmien asennusohjeeseen tuntimittauspaketin toiminnallisuuksien konfigurointi. Uusien vientimäärittelyjen avulla voidaan tuntimittauspaketin toiminnallisuudet toimittaa jatkossa tehokkaammin kuin aiemmin.

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The authors describe a rare case of a gastric duplication cyst in a 55-year-old man. The past history revealed that the patient was treated one year before for gastroduodenal ulcer. The cyst was discovered incidentally at upper gastrointestinal endoscopy. Biopsies showed inflammation without evidence of tumor. On abdominal ultrasonography and CT scan, a left upper quadrant mass was noted. At laparotomy, a mass measuring 6,0 cm in contact with the stomach was excised. Histopathology showed a gastric duplication cyst containing pancreatic mucosa.

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Urethral duplication is a rare congenital anomaly. The clinical presentation and treatment varies because of the different anatomical patterns of this abnormality. We report a case of this entity in the adult male patient. The clinical, radiological and endoscopic findings, as well as the treatment are discussed.

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Liiketoimintaa tukevien palvelujen etätuotanto edustaa uutta kansainvälistymisen muotoa. Kehittyvien markkinoiden nousu yhdistettynä yritysten arvoketjutoimintojen kansainvälistymiseen on luonut yrityksille kasvavan paineen etsiä parasta sijaintia toiminnoilleen. Monikansalliset yritykset ovat yhä useammin korvanneet paikallisia henkilöstöpalvelujaan siirtymällä globaaliin malliin jaettujen palvelujen tuotannossa. Tämä diplomityö on toteutettu tukeakseen UPM:n henkilöstöhallintoa globaalin palvelukeskuksen perustamisessa Puolaan. Tutkimuksen tavoitteena on laajentaa käsitystä henkilöstöpalvelujen tarjontamallin uudistamiseen johtaneista tekijöistä ja motiiveista. Empiirisen tutkimuksen tärkein tavoite on tukea rekrytoinnin hallinnollisten töiden siirtoa globaaliin palvelukeskukseen palvelun laadun säilyessä vähintään aikaisemmalla tasolla. Tutkimuksen tulokset painottavat strategista näkökulmaa muutokseen. Strategiset syyt UPM:n henkilöstöhallinnon globaalin palvelukeskuksen perustamiselle sisältävät ylikapasiteetin ja päällekkäisten toimintojen vähentämisen eri maissa. Muutos lisää palvelun joustavuutta sekä edesauttaa toiminnan läpinäkyvyyttä, ennustettavuutta ja kustannusten valvontaa. Onnistuneesti toteutetut jaetut palvelut voivat toimia hyvänä lähtökohtana tehokkaiden henkilöstöpalvelujen tuottamiselle.

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The animal reservoirs of vancomycin-resistant enterococci (VRE) have important role in the epidemiology of the bacteria and resistant genes. The present work searched fecal samples taken off nonhuman primates for the presence of VRE. Resistance profiles, virulence traits, and genetic variability among enterococci isolates were also analyzed. The samples included Capuchin monkeys (Cebus apella, n=28) and Common marmoset (Callithrix penicillata, n=37) housed in the Primate Center of the University of Brasília, Brazil. Most individuals were captive monkeys from the Central-West and South-East regions of Brazil (n=48). We collected rectal swabs and carried out selective isolation followed by multiplex Polymerase Chain Reaction (PCR) to identify species and resistance genes. No vanA or vanB-containing enterococci were found. The carriage rates ranged from 1.5% for the VanC-type E. casseliflavus and E. gallinarum until 12.3% (n=8) for Enterococcus faecalis. All E. faecalis isolates showed susceptibility to vancomycin, teicoplanin, ampicillin, gentamicin, and streptomycin. The virulence genes ace and esp were prevalent (100.0%, 87.5%). Multilocus variable number of tandem repeats (MLVA) revealed diversity in the number of repeats among E. faecalis isolates and targets, which was higher for espC, efa5, and efa6. We identified six different MLVA genotypes that were divergent from those described in human beings. Also, they were clustered into two genogroups that showed host-specificity for the species Cebus apella or Callithrix penicillata. In conclusion, no vanA- or vanB-containing enterococci were found colonizing those primate individuals. This finding suggested that the primate individuals investigated in our study are not directly involved in the epidemiological chain of high-level vancomycin-resistant genes vanA or vanB in Brazil. Our study also showed that E. faecalis isolated from nonhuman primates carry virulence traits and have ability to spread their lineages among different individuals.

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Five male 6-8 month-old Murrah buffalo calves were orally dosed with the fresh aerial parts of Baccharis megapotamica var. weirii at doses of 1, 3, 4, 5 and 10g/kg body weight (bw) (~1-10mg macrocyclic trichothecenes/kg/bw). The B. megapotamica used for the experiment was harvested on a farm where a recent spontaneous outbreak of poisoning caused by such plant had occurred. Clinical signs appeared 4-20 hours and 4 buffaloes died 18-49 hours after the ingestion of the plant. Clinical signs were apathy, anorexia, and watery diarrhea, fever, colic, drooling, muscle tremors, restlessness, laborious breathing and ruminal atony, and dehydration. The most consistent gross findings were restricted to the gastrointestinal (GI) tract consisted of varying degrees of edema and reddening of the mucosa of the forestomach. Histopathological findings consisted of varying degrees of necrosis of the epithelial lining of the forestomach and of lymphocytes within lymphoid organs and aggregates. Fibrin thrombi were consistently found in sub-mucosal vessels of the forestomach and in the lumen of hepatic sinusoids. It is suggested that dehydration, septicemia and disseminated intravascular coagulation participate in the pathogenesis of the intoxication and play a role as a cause of death. A subsample of B. megapotamica var. weirii was frozen-dried and ground and analyzed using UHPLC (Ultra High Performance Liquid Chromatography) with high resolution Time of Flight mass spectrometry and tandem mass spectrometry, it was shown that the plant material contained at least 51 different macrocyclic trichothecenes at a total level of 1.1-1.2mg/g. About 15-20% of the total trichothecenes contents was found to be monosaccharide conjugates, with two thirds of these being glucose conjugates and one third constituted by six aldopentose conjugates (probably xylose), which has never been reported in the literature.

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Despite over 50 years of investigation, the precise cause of infant colic crying remains unresolved and the long-term consequences unrevealed, and an effective treatment is lacking. Indeed, a more profound understanding of the complex nature of infants’ excessive crying is needed. The purpose of this series of studies was to investigate the association between gut microbiota composition and infant crying, to evaluate the impact of colic crying on children’s later health and to study the possibilities of treating and preventing excessive crying with pro- and prebiotics. The material comprised three on-going, prospective randomized controlled trials of the probiotic Lactobacillus rhamnosus GG (ATCC 53103, LGG) or a mixture of prebiotics administered in early infancy. The study populations consisted of term infants (n=89), preterm infants (n=94) and term colic infants (n=30). Early crying was found to be inversely associated with the number of Bifidobacterium and Lactobacillus. Furthermore, at the age of 13 years functional gastrointestinal disorders (FGID) were manifested more frequently among children with previous colic crying than in those without. In preterm infants pro- and prebiotic supplementation during the first months of life reduced the frequency of excessive crying when compared to placebo. In parallel, probiotic LGG in tandem with a cow’s milk elimination diet and behavioral counseling reduced the daily crying amount among term colic infants when compared to placebo. In conclusion, the composition of the gut microbiota is associated with infant crying and colic, and probiotic LGG might provide a safe and effective treatment or preventive option to alleviate excessive crying in early infancy in term and preterm infants. Furthermore, early colic crying might be associated with the later development of FGID.

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O mapeamento e a caracterização da distribuição espacial de plantas daninhas por meio da agricultura de precisão, associada a levantamentos fitossociológicos, têm sido utilizados no controle localizado da infestação. O presente trabalho avaliou a incidência e a dinâmica de plantas daninhas, além da distribuição espacial em distintos sistemas de mobilização do solo, na cultura do sorgo forrageiro. O experimento foi conduzido em Petrolina-PE. Os tratamentos constaram de quatro sistemas de mobilização do solo: sem preparo primário, grade tandem mais arado de aivecas, grade off-set de discos de 0,61 m e grade tandem mais escarificador. A coleta de dados ocorreu na cultura do sorgo forrageiro aos 110 dias após emergência, em uma área retangular de 20 x 12 m (240 m²) com malha regular de 4 x 3 m, referenciadas em coordenadas x e y. A caracterização fitossociológica foi realizada pela avaliação da densidade, frequência, abundância, dominância e índice de valor de importância das espécies, e a variabilidade espacial, por meio da geoestatística com a construção de mapas de isolinhas. Cenchrus echinatus teve maior incidência e índice de valor de importância. O mapeamento de plantas daninhas tem relevância para a aplicação de métodos de controle, principalmente quando aliado ao levantamento fitossociológico.

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Presentation at Open Repositories 2014, Helsinki, Finland, June 9-13, 2014

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A sample of 101 specimens of Ctenomys minutus was collected along its geographic range. Eight karyotypes (2n = 42, 45, 46a, 46b, 47, 48, 49 and 50) were found. The chromosome polymorphisms were due to Robertsonian rearrangements and tandem fusions. The distribution of polymorphisms indicated three population blocks: northern (2n = 49 and 50), central (2n = 46a, 47, and 48) and southern (2n = 42, 45, and 46b). These findings suggest that this species is undergoing a speciation process due to geographic isolation.

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The aim of the present study was to evaluate the effect of antidopaminergic agents on the somatotrophs in the presence of hyperprolactinemia. Adult male Wistar rats were divided into 6 groups: a control group and five groups chronically treated (60 days) with haloperidol, fluphenazine, sulpiride, metoclopramide or estrogen. Somatotrophs and lactotrophs were identified by immunohistochemistry and the data are reported as percent of total anterior pituitary cells counted. The drugs significantly increased the percentage of lactotrophs: control (mean ± SD) 21.3 ± 4.4, haloperidol 27.8 ± 2.2, fluphenazine 34.5 ± 3.6, sulpiride 32.7 ± 3.5, metoclopramide 33.4 ± 5.5 and estrogen 42.4 ± 2.8. A significant reduction in somatotrophs was observed in animals treated with haloperidol (23.1 ± 3.0), fluphenazine (22.1 ± 1.1) and metoclopramide (24.2 ± 3.0) compared to control (27.3 ± 3.8), whereas no difference was observed in the groups treated with sulpiride (25.0 ± 2.2) and estrogen (27.1 ± 2.8). In the groups in which a reduction occurred, this may have simply been due to dilution, secondary to lactotroph hyperplasia. In view of the duplication of the percentage of prolactin-secreting cells, when estrogen was applied, the absence of a reduction in the percent of somatotrophs suggests a replication effect on this cell population. These data provide additional information about the direct or indirect effect of drugs which, in addition to interfering with the dopaminergic system, may act on other pituitary cells as well as on the lactotrophs.

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Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML) in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML), by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%), with relapsed AML, showed an alteration in the allele length at a single locus. Cytogenetic analysis was performed in order to improve the characterization of leukemic subtypes and to determine if specific chromosome aberrations were associated with the presence of microsatellite instability. Several chromosome aberrations were observed, most of them detected at diagnosis and during follow-up of the patients, according to current literature. These findings suggest that microsatellite instability is an infrequent genetic event in myeloid leukemias, adding support to the current view that the mechanisms of genomic instability in solid tumors differ from those observed in leukemias, where specific chromosome aberrations seem to play a major role.

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In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal development. We report here a molecular study of the SRY, DAX1, SF1 and WNT4 genes, mainly involved in sexual determination, in Brazilian 46,XX and 46,XY sex-reversed patients. The group of 46,XX sex-reversed patients consisted of thirteen 46,XX true hermaphrodites and four 46,XX males, and was examined for the presence of the SRY gene and for the loss of function (inactivating mutations and deletions) of DAX1 and WNT4 genes. In the second group consisting of thirty-three 46,XY sex-reversed patients we investigated the presence of inactivating mutations in the SRY and SF1 genes as well as the overexpression (duplication) of the DAX1 and WNT4 genes. The SRY gene was present in two 46,XX male patients and in none of the true hermaphrodites. Only one mutation, located outside homeobox domain of the 5' region of the HMG box of SRY (S18N), was identified in a patient with 46,XY sex reversal. A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sex-reversed patient without adrenal insufficiency. The dosage of DAX1 and WNT4 was normal in the sex-reversed patients studied. We conclude that these genes are rarely involved in the etiology of male gonadal development in sex-reversed patients, a fact suggesting the presence of other genes in the sex determination cascade.

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We characterized the role of potential cAMP-responsive elements (CRE) in basal and in induced angiotensin converting enzyme (ACE) gene promoter activity in order to shed light on the regulation of somatic ACE expression. We identified stimulators and repressors of basal expression between 122 and 288 bp and between 415 and 1303 bp upstream from the transcription start site, respectively, using a rabbit endothelial cell (REC) line. These regions also contained elements associated with the response to 8BrcAMP. When screening for CRE motifs we found pCRE, a proximal sequence between 209 and 222 bp. dCRE, a distal tandem of two CRE-like sequences conserved between rats, mice and humans, was detected between 834 and 846 bp. Gel retardation analysis of nuclear extracts of REC indicated that pCRE and dCRE bind to the same protein complexes as bound by a canonical CRE. Mutation of pCRE and dCRE in REC established the former as a positive element and the latter as a negative element. In 293 cells, a renal cell line, pCRE and dCRE are negative regulators. Co-transfection of ATF-2 or ATF-2 plus c-Jun repressed ACE promoter activity, suggesting that the ACE gene is controlled by cellular stress. Although mapping of cAMP responsiveness was consistent with roles for pCRE and dCRE, mutation analysis indicated that they were not required for cAMP responsiveness. We conclude that the basal activity of the somatic ACE promoter is controlled by proximal and distal CREs that can act as enhancers or repressors depending on the cell context.