155 research outputs found
CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
No full text© The Author(s).Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that this patient carries a mutation for a second rare disease, Neuronal Ceroid Lipofuscinosis (NCL or CNL). We hypothesize that the CLN mutation she carries offers a protective effect, preventing tumor development in the cells potentially suffering a VHL second hit mutation. To test this hypothesis, we ran a series of molecular experiments and confirmed that cell viability of primary endothelial cells decreases upon CLN5 silencing. Our results further elucidate the cell biology implications of two rare diseases interacting.Funding was provided by the projects SAF2014–52374-R and SAF2017–83351-R from the Ministry of Economy and Competitivity to LMB. The group is part of the CIBER Spanish consortium for Rare Diseases, CIBERER, unit 707, and was also financially supported by the Spanish VHL patient AlliancePeer reviewe
Adoption of different tapping systems in the rubber industry of Sri Lanka with special reference to low frequency tapping
No full textHigher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
No full textOBJECTIVE To observe the clinical and molecular characteristics in Chinese Von Hippel-Lindau (VHL) disease patients. MATERIALS AND METHODS Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex-PCR, we examined mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from 2009 to 2012. RESULTS Of the 19 VHL disease families, VHL disease type I was identified in 14 families, type IIA in 1 family, and type IIB in 4 families. Mutation detection found missense point mutations in 7 families, nonsense point mutations in 3 families, small indels in 6 families, and large deletions in 3 families. Novel mutations were detected in 9 families (47.4%), in which 6 had no family history; previously reported mutations were found in 10 families, in which 3 had no family history. CONCLUSION The prevalence of novel mutations without family history was higher in this group of patients, presumably demonstrating the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients. UROLOGY 83: 675.e1-675.e6, 2014. (C) 2014 Elsevier Inc.http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000332411200044&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701Urology & NephrologySCI(E)[email protected]
HIF-independent synthetic lethality between CDK4/6 inhibition and VHL loss across species
No full textThis is the author accepted manuscript. The final version is available from AAAS via the DOI in this recordData and materials availability: The full dataset of the dsRNA screen in Drosophila S2R+cells
is available at www.flyrnai.org/screensummary. All other data needed to evaluate the
conclusions in the paper are present in the paper or the Supplementary Materials.Inactivation of the VHL tumor suppressor gene is the signature initiating event in clear cell renal cell carcinoma (ccRCC), the most common form of kidney cancer, and causes the accumulation of hypoxia-inducible factor 2α (HIF-2α). HIF-2α inhibitors are effective in some ccRCC cases, but both de novo and acquired resistance have been observed in the laboratory and in the clinic. Here, we identified synthetic lethality between decreased activity of cyclin-dependent kinases 4 and 6 (CDK4/6) and VHL inactivation in two species (human and Drosophila) and across diverse human ccRCC cell lines in culture and xenografts. Although HIF-2α transcriptionally induced the CDK4/6 partner cyclin D1, HIF-2α was not required for the increased CDK4/6 requirement of VHL−/− ccRCC cells. Accordingly, the antiproliferative effects of CDK4/6 inhibition were synergistic with HIF-2α inhibition in HIF-2α–dependent VHL−/− ccRCC cells and not antagonistic with HIF-2α inhibition in HIF-2α–independent cells. These findings support testing CDK4/6 inhibitors as treatments for ccRCC, alone and in combination with HIF-2α inhibitors.National Cancer InstituteDana-Farber Cancer InstituteHoward Hughes Medical InstituteNational Institute of General Medical Science
Feasibility and profitability of chain integration by NCPAK on flower sleeves products in European market
No full textIn this report, the author describes that the EU flower sleeve wholesalers are the chain leader of the flower sleeve supply chain from China to the EU market. Their strategy changes can easily put NCpak, in full name, 'Sun Hing Plastic Bag Company', a Hong Kong enterprise based on Shenzhen City, Guangdong Province of China, in a hard situation and even go bankrupt. In the case of NCpak, being highly depending on EU wholesalers, NCpak’s sale has dramatically decreased because of EU wholesalers have chosen its competitor instead of NCpak. To find a feasible and profitable solution is a priorit
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Session A2: Like Shooting Fish in a Barrel: Migratory Behavior of Fish at Intertidal Fish Passes in Dutch Wadden Sea
No full textPresenting Author Bio: Jeroen Huisman is a researcher-lecturer at the VHL Applied Sciences University in Leeuwarden and Wageningen University. He is working on researching migratory behaviour of migratory fish in relation to performance of intertidal fish passes in the Wadden Sea region. He has been working on fish ecology, fish passes, policy and management issues for more than ten years. Studying fish ecology in the Wadden Sea region is particular interesting.Abstract: The Wadden Sea is a large intertidal area in the Northwest of Europe and is listed on the UNESCO’s World Heritage List (UNESCO 2009). The tributaries and estuaries in the Dutch part of the Wadden Sea are relatively small and as such have suffered extensive habitat loss and habitat degradation due to empoldering and measures ensuring flood protection e.g. pumping stations, weirs and sluices. The Wadden Sea and its intertidal barriers offer a unique opportunity to investigate migratory behaviour of fish and fish pass functioning with regards to diadromous fish. To facilitate fish migration intertidal fish passes in the Wadden Sea are often designed to temporarily let water in and/or out from tributaries. Combining the temporal aspects of aforementioned fish passes with the temporal spatial behavioural patterns of fish migration is a challenge. How to combine fish pass functioning with the needs of present fish species and different life stages? The intertidal pumping stations Duurswold, de Drie Delfzijlen en de Helsdeur are researched using telemetry. We have used acoustic telemetry (Anguilla anguilla) in order to investigate behaviour and route choice of seaward migrating silver eels. Analyses of data will provide insight in for example delay and route choice. In addition, a number of migrating silver eels have been detected along the Dutch-Belgian coast which raises the question which routes are favoured by silver eels on their way to the Sargassosea and why. At the pumping station “De Helsdeur” we have PIT-tagged a number of three spined sticklebacks to investigate fish pass functioning in relation to intertidal migratory behaviour and interspecies variation of three spined sticklebacks (Gasterosteus acculuatus). Results show that sticklebacks mainly migrate during daylight and at upcoming tide
BVS Veterinária disponibiliza conteúdo em três idiomas
No full textVHL Veterinary Medicine provides contents in three language
Driver behaviour near the vehicle handling limits in vehicles with an extended linear handling region
No full textLateral acceleration is a key aspect of the vehicle response perceived by the driver. Assistance systems such as Active Rear Steering (ARS) or Torque Vectoring (TV) are developed to modify the lateral acceleration response such that the vehicle has an improved stability and an extended linear handling region. With this extended linear handling region the vehicle abruptly reaches tyre friction limitations (representing an entry into the vehicle handling limits (VHL)), this can potentially lead to dangerous situations. This thesis aims to quantify driver behaviour when being forced to drive near the VHL, in terms of how often the VHL is entered and what happens after entry. To assess this, a human factors experiment (N = 18) in a fixed base driving simulator was performed. In this experiment three different vehicle configurations were compared: (1) a conventional vehicle (Passive) (2) a vehicle with an extended linear handling region (Active) (3) a vehicle with an extended linear handling region and increased yaw response (Active Sport). In these configurations, the drivers need to drive with a fixed velocity on an oval track with Electronic Stability Control (ESC) switched off. It was expected that a conventional vehicle enters the VHL more often compared to the vehicles with an extended linear handling region. However, when entering the VHL, the vehicle with an extended linear handling region was expected to be more difficult to control due to the abrupt change in vehicle dynamics and corresponding steering feel. The results indicate that the Passive vehicle entered the VHL more frequently compared to the Active and Active Sport configurations. However, when the Active Sport configuration entered the VHL, significantly more road departures and an increased steering reversal rate compared to the Passive configuration resulted. Therefore, it can be concluded drivers enter the VHL less frequently in a vehicle with an extended linear handling region (caused by systems such as ARS or TV). However when the VHL is entered it is more difficult and dangerous for a driver to control compared to a conventional vehicle
An assessment of chain management practice within the industrial pork value chain: Beijing Ciity, China
No full textThe research assesses the value chain and quality control of the pork industry in Beijing municipality of China. Through interviewing all the actors of pork industrial value chain in Beijing, the roles functions and problems of each of the actor of the pork industrial value chain of Beijing were investigated and discussed. Finally relevant suggestions and recommendations were offered for further improvement. The author used survey and case study to explore the pork industrial value chain of Beijing. The investigations were carried out among pig farmers in seven selected districts of the Beijing municipality. The case study worked on an integrated evaluation of the pork industrial value chain. And the major actors of this chain included: pig farmers, brokers, processor, wholesalers, retailers and consumers. Empirical data from the research were used for this assessment of the pork industrial value chain. Descriptive statistics were collected. Through comparing the profit and responsibility in the actors of the value chain, the main results obtained from survey (focusing on pig farmers) and interviews (among brokers, managers of slaughterhouses, wholesaler markets, open markets and supermarkets), were the descriptions of the roles of each member and their current situation about quality control in the pork industry value chain in Beijing. According to this research, the slaughterhouses have taken up the lion share of the chain’s gross gain. By contrast, the broker, transporter and wholesaler market shared only a little amount of the rest of the profit. Regarding to the quality control, the quality system of HACCP is not universally and strictly followed by each member. Therefore, it is very necessary to make recommendations for a new industrial value chain system and an improved quality control system
PERFORMANCE OF ONCE IN THREE DAYS (S/2 d3) AND FOUR DAYS (S/2 d4) TAPPING SYSTEMS IN MARGINAL DRIER AREAS IN SRI LANKA
No full textWith the beginning of tapping in the first ever rubber lands planted in drier climates, low frequency tapping (LFT) systems i.e. tapping half of the tree circumference once in three (S/2 d3) and four (S/2 d4) days were tested together with traditional once in two days (S/2 d2) system in rubber smallholdings established in marginal drier areas in Eastern Province of Sri Lanka. Generally, yields given by LFT systems were comparatively higher than that in traditional S/2 d2 system. A prominent seasonal distribution of rubber yields was shown in all three taping systems. Throughout the period dry rubber content of latex did not fall below 35%. When compared to wet areas sucrose, inorganic phosphorous, thiol and total solid content of latex were considerably higher with a prominent variation between wet and dry seasons. When reducing the tapping frequency latex sucrose content reduced whilst latex inorganic phosphorous content increased confirming the higher metabolic activity in laticifers to increase daily latex yield per tree. Lowering of the plugging index in trees taped with LFT systems, significantly increase the daily latex volume. Low frequency tapping systems did not effect on the growth of rubber tree, incidence of tapping panel dryness and quality of rubber produced. Converting to LFT increased the profitability and time availability of farmers for their traditional farming activities. Keywords : Cost of production, Hevea, low frequency tapping, rubber, tappin
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