Two-speed Shifting Gearbox

Import 22/07/2015Práce se zabývá dvoustupňovou převodovkou s řazením sloužící k pohonu pásového dopravníku. Řazení mezi dvěma stupni probíhá ručně v klidovém stavu. Spojka využívá evolventního drážkování. Ozubená kola jsou navržena s čelním ozubením se šikmými zuby a jsou mazána broděním v oleji. Byly provedeny návrhové a kontrolní výpočty jednotlivých součástí (ozubená kola, hřídele, pera, ložiska, drážkování) převodovky. Navržená převodová skříň je svařovaná. Výkresová dokumentace obsahuje sestavný výkres převodovky a dílenské výkresy skříně.This thesis deals with the two-speed gearbox with gear shifting for propulsion of the conveyor belt. Shifting between two speeds is carried out manually at a standstill. The clutch utilizes involute splines. The gears are designed with helical toothing, and are lubricated with the oil bath method. They were performed design and check calculations of individual components of the gearbox (gears, shafts, tongues, bearings, grooving. Designed gearbox is welded. Drawing documentation contains an assembly drawing of the gearbox, and shop drawings of the gear case.347 - Katedra částí a mechanismů strojůdobř

Fuel quality/processing study. Volume 2: Appendix. Task 1 literature survey

The results of a literature survey of fuel processing and fuel quality are given. Liquid synfuels produced from coal and oil shale are discussed. Gas turbine fuel property specifications are discussed. On-site fuel pretreatment and emissions from stationary gas turbines are discussed. Numerous data tables and abstracts are given

Fuel quality processing study, volume 1

A fuel quality processing study to provide a data base for an intelligent tradeoff between advanced turbine technology and liquid fuel quality, and also, to guide the development of specifications of future synthetic fuels anticipated for use in the time period 1985 to 2000 is given. Four technical performance tests are discussed: on-site pretreating, existing refineries to upgrade fuels, new refineries to upgrade fuels, and data evaluation. The base case refinery is a modern Midwest refinery processing 200,000 BPD of a 60/40 domestic/import petroleum crude mix. The synthetic crudes used for upgrading to marketable products and turbine fuel are shale oil and coal liquids. Of these syncrudes, 50,000 BPD are processed in the existing petroleum refinery, requiring additional process units and reducing petroleum feed, and in a new refinery designed for processing each syncrude to produce gasoline, distillate fuels, resid fuels, and turbine fuel, JPGs and coke. An extensive collection of synfuel properties and upgrading data was prepared for the application of a linear program model to investigate the most economical production slate meeting petroleum product specifications and turbine fuels of various quality grades. Technical and economic projections were developed for 36 scenarios, based on 4 different crude feeds to either modified existing or new refineries operated in 2 different modes to produce 7 differing grades of turbine fuels. A required product selling price of turbine fuel for each processing route was calculated. Procedures and projected economics were developed for on-site treatment of turbine fuel to meet limitations of impurities and emission of pollutants

Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy

OBJECTIVES To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1]). METHODS Homozygosity mapping with 500 microsatellite markers spread over the whole genome (mean distance, 7.2 centimorgans [cM]) and mutation analysis of the complete coding region of FBLN1. RESULTS Homozygosity for all analyzed markers was found in the 4 affected siblings in a region on chromosome 22 encompassing 12 cM from D22S444 (centromeric) to D22S1170 (telomeric). Lod scores were between 0.017 and 2.36 (theta = 0). A mutation analysis of the complete coding region of FBLN1, which encodes interacting extracellular matrix proteins, revealed 4 previously undescribed single nucleotide polymorphisms. CONCLUSIONS A genomewide homozygosity mapping analysis supported the hypothesis that the gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13. No obviously pathogenic mutation was found in the candidate gene, FBLN1

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

Abstract Congenital disorders of glycosylation are a genetically and phenotypically heterogeneous family of diseases affecting the co‐ and posttranslational modification of proteins. Using exome sequencing, we detected biallelic variants in GFUS (NM_003313.4) c.[632G>A];[659C>T] (p.[Gly211Glu];[Ser220Leu]) in a patient presenting with global developmental delay, mild coarse facial features and faltering growth. GFUS encodes GDP‐L‐fucose synthase, the terminal enzyme in de novo synthesis of GDP‐L‐fucose, required for fucosylation of N‐ and O‐glycans. We found reduced GFUS protein and decreased GDP‐L‐fucose levels leading to a general hypofucosylation determined in patient's glycoproteins in serum, leukocytes, thrombocytes and fibroblasts. Complementation of patient fibroblasts with wild‐type GFUS cDNA restored fucosylation. Making use of the GDP‐L‐fucose salvage pathway, oral fucose supplementation normalized fucosylation of proteins within 4 weeks as measured in serum and leukocytes. During the follow‐up of 19 months, a moderate improvement of growth was seen, as well as a clear improvement of cognitive skills as measured by the Kaufmann ABC and the Nijmegen Pediatric CDG Rating Scale. In conclusion, GFUS‐CDG is a new glycosylation disorder for which oral L‐fucose supplementation is promising

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited. Herein we present successful bisphosphonate therapy in three affected patients. Patients were treated with bisphosphonates (either pamidronate or zoledronate) for different time periods. The following outcome variables were assessed: skeletal pain, range of motion, bone densitometry, internal medical problems as well as neurocognitive function. Skeletal pain was dramatically reduced in all patients soon after initiation of therapy and bone mineral density increased. Range of motion did not significantly improve. One patient is still able to walk with aids at the age of 14 years. Neurocognitive development was normal in all patients. Bisphosphonate therapy was effective especially in controlling skeletal pain in MONA spectrum disorder. Early initiation of treatment seems to be particularly important in order to achieve the best possible outcome

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. We investigated 35 patients with either the Silver-Russell syndrome or primordial growth retardation and their parents with PCR markers to search for uniparental disomy 7. Four of 35 patients were found to have maternal disomy, including three with isodisomy and one with heterodisomy. The data confirm the hypothetical localization of a maternally imprinted gene (or more than one such gene) on chromosome 7. It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardatio

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities. Consistent with this, Trp53bp2-deficient mice show dilation of lateral ventricles resembling the phenotype of 1q41q42 microdeletion patients. Trp53bp2 deficiency causes 100% neonatal lethality in the C57BL/6 background associated with a high incidence of neural tube defects and a range of developmental abnormalities such as congenital heart defects, coloboma, microphthalmia, urogenital and craniofacial abnormalities. Interestingly, abnormalities show a high degree of overlap with 1q41q42 microdeletion-associated abnormalities. These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome, and open new avenues for investigation of the mechanisms underlying CNS abnormalities

Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA) with severe, proportionate postnatal growth retardation, discreet signs of skeletal dysplasia, microcephaly and moyamoya disease. Initial genetic evaluation revealed a novel heterozygous IGF1R p.Leu1361Arg mutation affecting a highly conserved residue with the insulin-like growth factor type 1 receptor suggestive for a disturbance within the somatotropic axis. However, because the mutation did not co-segregate with the phenotype and functional characterization did not reveal an obvious impairment of the ligand depending major IGF1R signaling capabilities a second-site mutation was assumed. Mutational screening of components of the somatotropic axis, constituents of the IGF signaling system and factors involved in cellular proliferation, which are described or suggested to provoke syndromic dwarfism phenotypes, was performed. Two compound heterozygous PCNT mutations (p.[Arg585X];[Glu1774X]) were identified leading to the specification of the diagnosis to MOPD II. These investigations underline the need for careful assessment of all available information to derive a firm diagnosis from a sequence aberration