348 research outputs found
High performance organisation : a quantitative inquiry at a specific metropolitan municipality in the Gauteng province
Since the dawn of the new democracy in South Africa, the media has been fraught with episodes of dissatisfaction among stakeholders about the service delivery record of municipalities. The aim of this study is, therefore, to explore employees’ experiences and perceptions, particularly at the Tshwane Metropolitan Municipality, regarding the service delivery performance of this municipality. The study was particularly motivated by the apparent lack of a scientifically tested intellectual tool to assist municipalities in improving service provision to residents. A quantitative research design was adopted to ensure uniformity and consistency of the data gathering and analysis processes. To this end, a population of 800 participants was targeted and at least 474 participants responded, thus, registering a response rate of 59%. The main findings of this study was the High Performance Organisational Culture model applicable to local government, whose factors yielded Cronbach Alpha coefficients of between 0.703 and 0.964. The managerial implication of the results of the study is a potential to equip the decision makers in the municipal sector with an empirically tested tool to assist the municipalities to ascend to a high performance status and thus, improve the quality of life of residents. The study is poised to provide a useful framework for policy formulation on high performance in the municipal sector
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation.
Results: A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement of a region on ECA1 (P T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. All 16 available cases and none of the controls were homozygous for the mutation, and all 17 obligate carriers (= dams of cases) were heterozygous. A random sample of the Friesian horse population (n = 865) was tested for the mutation in a commercial laboratory. One-hundred and forty-seven horses were carrier and 718 horses were homozygous for the normal allele; the estimated allele frequency in the Friesian horse population is 0.085.
Conclusions: Hydrocephalus in Friesian horses has an autosomal recessive mode of inheritance. A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1: 75,859,296-75,909,376) is concordant with hydrocephalus in Friesian horses. Application of a DNA test in the breeding programme will reduce the losses caused by hydrocephalus in the Friesian horse population
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7
Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level.
Results: We have localized the genetic cause of the dwarfism phenotype by a genome wide approach to a 3 Mb region on the p-arm of equine chromosome 14. The DNA of two dwarfs and one control Friesian horse was sequenced completely and we identified the missense mutation ECA14:g.4535550C> T that cosegregated with the phenotype in all Friesians analyzed. The mutation leads to the amino acid substitution p.(Arg17Lys) of xylosylprotein beta 1,4-galactosyltransferase 7 encoded by B4GALT7. The protein is one of the enzymes that synthesize the tetrasaccharide linker between protein and glycosaminoglycan moieties of proteoglycans of the extracellular matrix. The mutation not only affects a conserved arginine codon but also the last nucleotide of the first exon of the gene and we show that it impedes splicing of the primary transcript in cultured fibroblasts from a heterozygous horse. As a result, the level of B4GALT7 mRNA in fibroblasts from a dwarf is only 2 % compared to normal levels. Mutations in B4GALT7 in humans are associated with Ehlers-Danlos syndrome progeroid type 1 and Larsen of Reunion Island syndrome. Growth retardation and ligamentous laxity are common manifestations of these syndromes.
Conclusions: We suggest that the identified mutation of equine B4GALT7 leads to the typical dwarfism phenotype in Friesian horses due to deficient splicing of transcripts of the gene. The mutated gene implicates the extracellular matrix in the regular organization of chrondrocyte columns of the growth plate. Conservation of individual amino acids may not be necessary at the protein level but instead may reflect underlying conservation of nucleotide sequence that are required for efficient splicing
Bayesian Variable Selection to identify QTL affecting a simulated quantitative trait
Background Recent developments in genetic technology and methodology enable accurate detection of QTL and estimation of breeding values, even in individuals without phenotypes. The QTL-MAS workshop offers the opportunity to test different methods to perform a genome-wide association study on simulated data with a QTL structure that is unknown beforehand. The simulated data contained 3,220 individuals: 20 sires and 200 dams with 3,000 offspring. All individuals were genotyped, though only 2,000 offspring were phenotyped for a quantitative trait. QTL affecting the simulated quantitative trait were identified and breeding values of individuals without phenotypes were estimated using Bayesian Variable Selection, a multi-locus SNP model in association studies. Results Estimated heritability of the simulated quantitative trait was 0.30 (SD = 0.02). Mean posterior probability of SNP modelled having a large effect ( pˆi) was 0.0066 (95%HPDR: 0.0014-0.0132). Mean posterior probability of variance of second distribution was 0.409 (95%HPDR: 0.286-0.589). The genome-wide association analysis resulted in 14 significant and 43 putative SNP, comprising 7 significant QTL on chromosome 1, 2 and 3 and putative QTL on all chromosomes. Assigning single or multiple QTL to significant SNP was not obvious, especially for SNP in the same region that were more or less in LD. Correlation between the simulated and estimated breeding values of 1,000 offspring without phenotypes was 0.91. Conclusions Bayesian Variable Selection using thousands of SNP was successfully applied to genome-wide association analysis of a simulated dataset with unknown QTL structure. Simulated QTL with Mendelian inheritance were accurately identified, while imprinted and epistatic QTL were only putatively detected. The correlation between simulated and estimated breeding values of offspring without phenotypes was high
Effective and Efficient Stand Magnifier Use in Visually Impaired Children
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167758.pdf (publisher's version ) (Open Access)PURPOSE: The main objective of this study was to analyze the effectiveness and efficiency of magnifier use in children with visual impairment who did not use a low vision aid earlier, in an ecologically valid goal-directed perceptuomotor task. METHODS: Participants were twenty-nine 4- to 8-year-old children with visual impairment and 47 age-matched children with normal vision. After seeing a first symbol (an Lea Hyvarinen [LH] symbol), children were instructed to (1) move the stand magnifier as quickly as possible toward a small target symbol (another LH symbol that could only be seen by using the magnifier), (2) compare the two symbols, and (3) move the magnifier to one of two response areas to indicate whether the two symbols were identical. Performance was measured in terms of accuracy, response time, identification time, and movement time. Viewing distance, as well as hand and eye dominance while using the magnifier was assessed. RESULTS: There were no significant differences between the two groups in accuracy, reaction time, and movement time. Contrary to the prediction, children with visual impairment required less time to identify small symbols than children with normal vision. Both within-subject and between-subject variability in viewing distance were smaller in the visually impaired group than in the normally sighted group. In the visually impaired group, a larger viewing distance was associated with shorter identification time, which in turn was associated with higher accuracy. In the normally sighted group, a faster movement with the magnifier and a faster identification were associated with increasing age. CONCLUSION: The findings indicate that children with visual impairment can use the stand magnifier adequately and efficiently. The normally sighted children show an age-related development in movement time and identification time and show more variability in viewing distance, which is not found in visually impaired children. Visually impaired children seem to choose a standard but less adaptive strategy in which they primarily used their preferred hand to manipulate the magnifier and their preferred eye to identify the symbol. TRIAL REGISTRATION: Registered at http://www.trialregister.nl; NTR2380.11 p
Stigma and discrimination experiences of HIV-positive men who have sex with men in Cape Town, South Africa
Since the primary mode of HIV transmission in sub-Saharan Africa is heterosexual, research focusing on the sexual behaviour of men who have sex with men (MSM) is scant. Currently it is unknown how many people living with HIV in South Africa are MSM and there is even less known about the stigmatisation and discrimination of HIV-positive MSM. The current study examined the stigma and discrimination experiences of MSM living with HIV/AIDS in South Africa. Anonymous venue-based surveys were collected from 92 HIV-positive MSM and 330 HIV-positive men who only reported sex with women (MSW). Internalised stigma was high among all HIV-positive men who took part in the survey, with 56% of men reporting that they concealed their HIV status from others. HIV-positive MSM reported experiencing greater social isolation and discrimination resulting from being HIV-positive, including loss of housing or employment due to their HIV status, however these differences were not significant. Mental health interventions, as well as structural changes for protection against discrimination, are needed for HIV-positive South African MSM
Разработка плана локализации и ликвидации аварий на автозаправочной станции Юргинского ЛПУМГ ООО «Газпром трансгаз Томск»
Целью выпускной квалификационной работы является: разработка порядка действий производственного персонала Юргинского ЛПУМГ в случае аварии на опасном производственном объекте по сценарию аварии "Пожар пролива нефтепродуктов и взрыв топливно-воздушной смеси".
В работе произведен анализ нормативных документов в области обеспечения пожарной безопасности, разработан порядок действий производственного персонала (руководителей и работников), расчет аварии по сценарию пожар пролива, произведены расчеты для выполнения мероприятий по локализации и ликвидации возможной ЧС.The purpose of the final qualification work is: development of a procedure for the production personnel of the Yurginsky LPUMG in the event of an accident at a hazardous production facility according to the accident scenario "A fire of the spill of oil products and an explosion of a fuel-air mixture."
The paper analyzes regulatory documents in the field of ensuring fire safety, developed a procedure for actions of production personnel (managers and workers), calculation of an accident according to the scenario of a strait fire, calculations were made to carry out measures to localize and eliminate a possible emergency
Расчет бокового магнитного сопротивления электромагнитных молотков
Hemolysis is an inevitable side effect of cardiopulmonary bypass resulting in increased plasma free hemoglobin that may impair tissue perfusion by scavenging nitric oxide. Acute kidney injury after on-pump cardiovascular surgery arises from a number of causes and severely affects patient morbidity and mortality. Here, we studied the effect of acute hemolysis on renal injury in 35 patients undergoing on-pump surgical repair of thoracic and thoracoabdominal aortic aneurysms of whom 19 experienced acute kidney injury. During surgery, plasma free hemoglobin increased, as did urinary excretion of the tubular injury marker N-acetyl-β-D-glucosaminidase, in patients with and without acute kidney injury, reaching peak levels at 2 h and 15 min, respectively, after reperfusion. Furthermore, plasma free hemoglobin was independently and significantly correlated with the urine biomarker, which, in turn, was independently and significantly associated with the later postoperative increase in serum creatinine. Importantly, peak plasma free hemoglobin and urine N-acetyl-β-D-glucosaminidase concentrations had significant predictive value for postoperative acute kidney injury. Thus, we found an association between increased plasma free hemoglobin and renal injury casting new light on the pathophysiology of acute kidney injury. Therefore, free hemoglobin is a new therapeutic target to improve clinical outcome after on-pump cardiovascular surgery
Liver function maximum capacity test during normothermic regional perfusion predicts graft function after transplantation
Purpose: In an effort to reduce waitlist mortality, extended criteria donor organs, including those from donation after circulatory death (DCD), are being used with increasing frequency. These donors carry an increased risk for postoperative complications, and balancing donor-recipient risks is currently based on generalized nomograms. Abdominal normothermic regional perfusion (aNRP) enables individual evaluation of DCD organs, but a gold standard to determine suitability for transplantation is lacking. This study aimed to incorporate individualized and predictive measurements of the liver maximum capacity (LiMAx) test to objectively grade liver function during aNRP and prevent post-op complications. Methods: aNRP was performed to salvage 18 DCD liver grafts, otherwise discarded. Continuous variables were presented as the median with the interquartile range. Results: The liver function maximum capacity (LiMAx) test was successfully performed within the aNRP circuit in 17 aNRPs (94%). Donor livers with good lactate clearance during aNRP demonstrated significantly higher LiMAx scores (396 (301–451) µg/kg/h versus those who did not 105 (70–158) µg/kg/h; P = 0.006). This was also true for manifesting stress hyperglycemia > 20 mmol/l (P = 0.032). LiMAx score correlated with alanine aminotransferase (ALT; R = − 0.755) and aspartate transaminase (AST; R = − 0.800) levels during perfusion and distinguished livers that were selected for transplantation (397 (346–453) µg/kg/h) from those who were discarded (155 (87–206) µg/kg/h; P < 0.001). Twelve livers were accepted for transplantation, blinded for LiMAx results, and all had LiMAx scores of > 241 µg/kg/h. Postoperatively, LiMAx during aNRP displayed correlation with 24-h lactate levels. Conclusions: This study shows for the first time the feasibility to assess liver function during aNRP in individual donor livers. LiMAx presents an objective tool to predict donor liver function and risk of complications in the recipient, thus enabling individualized matching of donor livers for an individual recipient. The LiMAx test may present a valuable test for the prediction of donor liver function, preventing post-transplant complication, and personalizing the selection of donor livers for individual recipients.</p
Advancing a MEMS-Based 3D Cell Culture System for in vitro Neuro-Electrophysiological Recordings
In this work we present advances in three dimensional (3D) neuronal cell culture systems based on a reversible assembly of a microbioreactor with a microelectrode array (MEA) to create a MEMS-based 3D cell culture system for in vitro neuro-electrophysiological recordings. A batch of six molds were milled in poly (methyl methacrylate). The molds were used for soft lithography of polydimethylsiloxane (PDMS). In the center of the PDMS shape, a porous polyethersulfone (PES) cylindrical tube was press-fitted to form a growth barrier between the culture chamber inside the PES tube and the microfluidic channel surrounding the PES tube. A thin layer of partially cured PDMS was used to seal the bottom of the microbioreactor and provide reversible adhesion with the glass surface of a MEA. SH-SY5Y cells were successfully differentiated inside the microbioreactors in Matrigel and demonstrated extended neuronal networks over a height of at least 184 micrometers within the system. In previous microbioreactor designs visibility was limited due to the closed top with the dispensing holes. The new open top design allows for a better evaluation of the cell culture by optical detection methods during the experiment. Electrophysiological activity was recorded within the microbioreactor using human induced pluripotent stem cell-derived cortical neurons cultured in Matrigel, in 3D, up until 21 days in vitro. In summary, we present advances made in the design, the fabrication process and integration of microbioreactors with MEAs. Optical imaging capabilities improved significantly with an open top and the culture time was further extended from 7 to 21 DIV without leakage or degradation thanks to introducing PES as a barrier material and an enhanced assembly procedure. The latter facilitated a sufficient long-term culture for neurons to mature in an environment free from flow-induced stress and provided a proof of principle for the recording of electrophysiological activity of cortical neurons cultured in 3D
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