122 research outputs found
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Whole exome sequencing study to detect germline pathogenic variants in PALB2 and other cancer-predisposing genes in CDH1 mutation negative diffuse gastric cancer families.
Background: Germline pathogenic variants in the E-cadherin gene (CDH1) are strongly associated with the development of hereditary diffuse gastric cancer (HDGC) syndrome. The risk assessment and management of HDGC families that do not carry a CDH1 variant is limited. It is therefore difficult for such families to make informed choices about surveillance and risk reducing surgery. This study aimed to identify new candidate genes for HDGC predisposition in families with no detected pathogenic CDH1 variants (CDH1-NPV).
Methods: Whole exome sequencing (WES) was performed on DNA extracted from blood obtained as part of the Familial Gastric Cancer Study. Analysis was performed across 39 individuals (28 affected and 11 unaffected) from 22 CDH1-NPV families that fulfil the international criteria for HDGC. Genes with loss-of-function variants were prioritised using gene interaction analysis to identify clusters of genes that could be involved in HDGC predisposition.
Findings: Protein-affecting germline variants were identified in known cancer predisposition genes or lesser studied DNA repair genes in six HDGC families. A frameshift deletion within PALB2 was found in a family with a history of gastric and breast cancer. Two MSH2 variants were identified, one frameshift insertion and one previously described start loss, in unrelated affected individuals. One family was identified with a unique combination of variants in DNA repair genes ATR and NBN. A missense variant and a splice acceptor variant were seen in two unrelated families in DNA repair gene RECQL5.
Interpretation: This study supports the role of known cancer predisposition gene PALB2 in the HDGC syndrome. It also puts forward new candidates in relation to HDGC risk within CDH1-NPV families.
Funding: This work has been funded and supported by the UK Medical Research Council (MRC)/Sackler programme, the European Union Seventh Framework Program (2007–2013)/European Research Council (310018), the National Institute for Health Research Cambridge Biomedical Research Centre and the Experimental Cancer Medicine Centre and Cancer Research UK
Profil Masyarakat Petani Kopi Di Desa Pematang Donok Kecamatan Kabawetan Kabupaten Kepahiang
The purpose of the study was to find out how the profile of the coffee farming community in Pematang Donok Village, Kabawetan District, Kepahiang Regency. The place of this research is in Pematang Donok Village. The time of the research was carried out on December 15, 2021 to January 15, 2022. The type of research used was descriptive qualitative research. The object of this research is 30 people. Data collection techniques are 1) observation, 2) interviews, 3) documentation. The data analysis techniques are 1) data collection, 2) data reduction, 3) data display, 4) conclusion drawing. Based on the results of the analysis and discussion on "Profile Analysis of Coffee Farmers in Pematang Donok Village, Kabawetan District, Kepahiang Regency" it can be concluded that most of the coffee farming communities in Pematang Donok Village are productive age (25-64 years). Most of the coffee farming communities in Pematang Donok Village have an average education of elementary school (SD) and junior high school (SMP) and health facilities in the coffee farming community in Pematang Donok Village are good, as well as for health workers such as midwives, paramedics as well. already available and enough
Pengaruh Penggunaan Media Sosial Terhadap Perilaku Belajar Siswa Pada Mata Pelajaran Ekonomi di SMA Muhammadiyah 4 Kota Bengkulu
This study aims to: To determine the effect of student social media on social studies subjects in SMA Muhammadiyah 4 Bengkulu City, to determine student learning behavior in social studies subjects at Muhammadiyah 4 high school Bengkulu City, to determine the effect of media on student learning behavior in social studies subjects at SMA Muhammadiyah 4 Bengkulu City. This type of research is a quantitative research. The population in this study is students / I SMA Muhammadiyah 4 Bengkulu City Class 10 and 11 Regular Social Sciences who are still active. The sample used is Total Sampling. Data collection techniques using observations, questionnaires, and documentation. Data Analysis Techniques using Simple Linear Regression. The results of this study indicate that: The Effect of Student Social Media on Economics Subjects at SMA Muhammadiyah 4 Bengkulu City is included in the High Category. It can be seen where the most respondents answered the questionnaire (Questionnaire) in the High category compared to other categories, namely with 24 respondents who received a percentage value of 0.53%. Student Learning Behavior in Economics Subject at SMA Muhammadiyah 4 Bengkulu City is included in the High Category. It can be seen where the respondents who answered the most questionnaires (Questionnaires) in the High category compared to other categories, namely with a total of 29 Respondents who obtained a percentage value of 0.64%. There is an influence of social media on student learning behavior in economic subjects at SMA Muhammadiyah 4 Bengkulu City. This is obtained from F count> F table (43> 4.07) and the level of influence is 95%
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The role of secondary cyclones and cyclone families for the North Atlantic storm track and clustering over western Europe
Secondary cyclones are those that form in association with a pre‐existing primary cyclone, typically along a trailing cold front. In previously studied cases they have been shown to cause extreme damage across Europe, particularly when multiple cyclones track over the same location in rapid succession (known as cyclone clustering). To determine the dynamical relationship between primary and secondary cyclones over the North Atlantic, a frontal identification algorithm is partnered with a cyclone identification method to objectively identify secondary cyclones in 35 extended winter periods using reanalysis data. Cyclones are grouped into “cyclone families” consisting of a single primary cyclone and one or more secondary cyclones. This paper aims to quantify the differences between secondary and primary cyclones over the North Atlantic, and how cyclone families contribute to episodes of cyclone clustering across western Europe. Secondary cyclones are shown to occur most frequently in the central and eastern North Atlantic, whereas primary cyclones are commonly found over the western North Atlantic. Cyclone families have their strongest presence over the North Atlantic Ocean and contribute more than 50% of cyclones over the main North Atlantic storm track. A final category, solo cyclones, which are not associated with cyclogenesis on any connected fronts, are most commonly identified over continental regions as well as the Mediterranean Sea. Primary cyclones are associated with the development of an environment that is favourable for secondary cyclone growth. Enhanced Rossby wave breaking following primary cyclone development leads to an increase in the upper‐level jet speed and a decrease in low‐level stability. Secondary cyclogenesis commonly occurs in this region of anomalously low stability, close to the European continent. During periods of cyclone clustering, secondary cyclones are responsible for approximately 50% of the total number of cyclones. The increase in jet speed and decrease in static stability initiated by the primary cyclones acts to concentrate the genesis region of secondary cyclones and direct the cyclones that form along a similar track. While there is an increase in the secondary cyclogenesis rate near western Europe during periods of European clustering, the basin‐wide secondary cyclogenesis rate decreases during these periods. Thus the large‐scale environment redistributes secondary cyclones during periods of clustering rather than increasing the total number of secondary cyclones
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Clinical Implications of Germline Mutations in Breast Cancer - TP53
Purpose
This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women.
Methods
Literature review of English language papers available through PubMed.
Results
Women who carry germline mutations in the TP53 gene have a very high risk of breast cancer of up to 85% by age 60 years. Most of these breast cancers are early onset with a median age at diagnosis of 34 years. Approximately 5–8% of women presenting with breast cancer under 30 years old have a germline TP53 gene mutation. Breast cancers in women with TP53 mutations are more likely to be hormone receptor positive and/or Her2 positive. Mastectomy is recommended over lumpectomy in TP53 mutation carriers who have breast cancer so that adjuvant breast radiotherapy can be avoided. Risk-reducing surgery should be considered due to the high contralateral breast cancer risk. Mutation carriers are at high risk of various childhood and adult-onset cancers with a very lifetime risk of malignancy, the commonest malignancies being breast cancer and soft tissue sarcoma. In unaffected female mutation carriers, MRI breast screening or risk-reducing surgery is recommended. The optimal surveillance for other cancers is currently unclear and should ideally be performed as part of a clinical trial.
Conclusions
Identifying a TP53 mutation in a gene panel test is a challenging result for the patient and clinician due to the high risk of second primaries and the lack of consensus about surveillance.KS holds an Academic Clinical Fellowship funded by the National Institute for Health Research (3090). MT is funded by the European Union Seventh Framework Program (2007–2013)/European Research Council (310018)
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Ion drag EHD micropump with single walled carbon nanotube (SWCNT) electrodes
This paper was presented at the 4th Micro and Nano Flows Conference (MNF2014), which was held at University College, London, UK. The conference was organised by Brunel University and supported by the Italian Union of Thermofluiddynamics, IPEM, the Process Intensification Network, the Institution of Mechanical Engineers, the Heat Transfer Society, HEXAG - the Heat Exchange Action Group, and the Energy Institute, ASME Press, LCN London Centre for Nanotechnology, UCL University College London, UCL Engineering, the International NanoScience Community, www.nanopaprika.eu.Ion drag electrohydrodynamic (EHD) micropumps are promising in a number of micro-scale
applications due to its small form factor, low power consumption, ability to work with dielectric heat transfer
fluids, good controllability and absence of any moving parts. Ion drag EHD micro-pumps have been studied
widely and the pressure head has been reported to depend on electrode material (i.e., work function),
geometric configuration, electrode surface topology and applied electric field. One drawback of such pumps
is the relatively low pressure head generation and high threshold voltage required for the onset of charge
injection for practical applications. The presence of micro/nano features with sharp asperities on the emitter
electrodes is likely to enhance the local electric field and charge injection significantly and thus, the pressure
generation. The objective of this work is to investigate the effect of surface topology on the charge injection
and pressure generation in HFE 7100. Experiments were performed using micropumps with smooth and
single wall carbon nanotube (SWCNT) deposited on smooth gold electrodes. A lower threshold voltage,
higher charge injection and pressure head was found for the micropump with SWCNT deposited on smooth
electrodes compared to the no deposition case
Pengaruh Pelatihan Kerja Dan Kompensasi Terhadap Kinerja Pegawai Dinas Pemadam Kebakaran Dan Penyelamatan Kota Bengkulu
This research is based on the importance of employee performance in achieving agency goals. Factors that can affect the performance of these employees include job training and compensation. The purpose of this study is to find out whether there is an effect of job training and compensation on whether compensation has an effect on the performance of the Bengkulu City Fire and Rescue Service employees.
In this research, the type of research is quantitative, which means the type of research based on the philosophy of positivism, is used to examine certain populations or samples. The population in this study were employees of the Bengkulu City Fire and Rescue Service and the sampling technique used in this study was purposive sampling. The number of respondents in this study were 110 employees of the Bengkulu City Fire and Rescue Service. Methods of data collection using a questionnaire.
By using multiple linear regression analysis technique, the results of this study can be concluded that the job training variable has a positive and significant effect on employee performance, compensation has a positive and significant effect on employee performance
The Influence Of Promotional Strategies And Social Media On Purchase Decisions (Case Study on Buyers Using Ms Glow Skincare in Bengkulu City)
This study uses a quantitative approach with a survey method. Quantitative research method is a research method based on the philosophy of positivism, which is used to examine a particular population or sample. Research data collection was carried out using research instruments. Data analysis is quantitative which aims to test the established hypothesis. Promotion strategy variable (X1), shows t count 2,942 1,98045 and sig a 0,004 0,050. Thus, it can be concluded that the promotion strategy variable has a positive and significant effect on purchasing decisions. This means that the hypothesis is accepted. Social Media Variable (X2), shows t count 17,852 1,98045 and sig a 0,000 0,050, it can be concluded that Social Media variable has a positive and significant effect on Purchase Decision. This means that the hypothesis is accepted. The results showed that the promotion strategy (X1), social media (X2) had a positive and significant effect on purchasing decisions (Y)
Effects of stitching on delamination of satin weave carbon-epoxy laminates under mode I, mode II and mixed-mode I/II loadings
The objective of the present study is to characterize the effect of modified chain stitching on the delamination growth under mixed-mode I/II loading conditions. Delamination toughness under mode I is experimentally determined, for unstitched and stitched laminates, by using untabbed and tabbed double cantilever beam (TDCB) tests. The effect of the reinforcing tabs on mode I toughness is investigated. Stitching improves the energy release rate (ERR) up to 4 times in mode I. Mode II delamination toughness is evaluated in end-notched flexure (ENF) tests. Different geometries of stitched specimens are tested. Crack propagation occurs without any failure of stitching yarns. The final crack length attains the mid-span or it stops before and the specimen breaks in bending. The ERR is initially low and gradually increases with crack length to very high values. The mixedmode delamination behaviour is investigated using a mixed-mode bending (MMB) test. For unstitched specimens, a simple mixed-mode criterion is identified. For stitched specimens, stitching yarns do not break during 25% of mode I ratio tests and the ERR increase is relatively small compared to unstitched values. For 70% and 50% of mode I ratios, failures of yarns are observed during crack propagation and tests are able to capture correctly the effect of the stitching: it clearly improves the ERR for these two mixed modes, as much as threefold
Pengaruh Informasi Akuntansi Manajemen Dan Sistem Penghargaan Terhadap Kinerja Rumah Sakit (Studi Empiris Pada Rumah Sakit Umum Daerah Arga Makmur)
This study aims to determine the effect of: (1) management accounting information on hospital performance (2) reward system on hospital performance (3) management accounting information and reward system simultaneously on hospital performance.
The type of research used in this research is quantitative. The population of this study were all employees of the Arga Makmur Regional General Hospital. The sampling technique used in this study was the purposive sampling technique with a total sample of 40 people. Data collection techniques using a questionnaire. The data analysis technique used to answer the hypothesis is multiple regression.
Based on the results of the research conducted, it shows that there is an effect of management accounting information and system rewards on Hospital Performance. From the results of the coefficient of determination, it can be seen that the Adjusted R square is 0.442. This shows that management accounting information and reward systems affect hospital performance by 44.2% while the remaining 55.8% can be explained by other factors not examined in this study
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