| 11. |
- Aoude, Lauren G, et al.
(författare)
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Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma.
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 107:2, s. 408-408
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Tidskriftsartikel (refereegranskat)abstract
- The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivating germline mutations in POT1, encoding a member of the shelterin complex, we searched for mutations in the other five components of the shelterin complex in melanoma families.
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| 12. |
- Arof, A. K., et al.
(författare)
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Polyacrylonitrile gel polymer electrolyte based dye sensitized solar cells for a prototype solar panel
- 2017
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Ingår i: Electrochimica Acta. - : Elsevier BV. - 0013-4686. ; 251, s. 223-234
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Tidskriftsartikel (refereegranskat)abstract
- Polyacrylonitrile (PAN) based gel polymer electrolytes (GPE) were prepared using lithium iodide (LiI), 1-butyl-3-methylimidazolium iodide (BMII) and tetrapropyl ammonium iodide (TPAI). The LiI mass fraction in the electrolyte was varied while keeping the masses of other components constant in order to enhance the solar cell performance. The addition of 4.61 wt.% LiI in the GPE increased the electrolyte room temperature ionic conductivity from (2.32 ± 0.02) to (3.91 ± 0.04) mS cm−1. The increase in conductivity with the addition of LiI salts was attributed to the increase in diffusion coefficient, mobility and number density of charge carriers as determined from Nyquist plot fitting. The incorporation of LiI salts in PAN-based GPE has enhanced the efficiency of the DSSC as expected. The best cell performance was obtained with an electrolyte containing 4.61 wt.% LiI sandwiched between a single mesoporous layer of TiO2 soaked in N3 dye sensitizer and a platinum counter electrode, which showed a power conversion efficiency (PCE) of (5.4 ± 0.1) % with a short circuit current density (Jsc) of (21.0 ± 1.1) mA cm−2, an open circuit voltage (Voc) of (0.48 ± 0.02) V and a fill factor (FF) of (53.4 ± 0.9) %. The DSSCs with 4.61 wt.% of LiI have been used to fabricate prototype solar panels for operating small devices. The panels were assembled using a number of cells, each having an area of 2 cm × 2 cm, connected in series and parallel. The panel, consisting of a set of eight cells in series which was connected in parallel with another set of eight cells in series, produces an average power conversion efficiency of (3.7 ± 0.2)% with a maximum output power of (17.1 ± 0.9) mW. © 2017 Elsevier Ltd
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| 13. |
- Campanella, Gianluca, et al.
(författare)
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Epigenome-wide association study of adiposity and future risk of obesity-related diseases
- 2018
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Ingår i: International Journal of Obesity. - : Nature Publishing Group. - 0307-0565 .- 1476-5497. ; 42:12, s. 2022-2035
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Tidskriftsartikel (refereegranskat)abstract
- Background: Obesity is an established risk factor for several common chronic diseases such as breast and colorectal cancer, metabolic and cardiovascular diseases; however, the biological basis for these relationships is not fully understood. To explore the association of obesity with these conditions, we investigated peripheral blood leucocyte (PBL) DNA methylation markers for adiposity and their contribution to risk of incident breast and colorectal cancer and myocardial infarction.Methods: DNA methylation profiles (Illumina Infinium® HumanMethylation450 BeadChip) from 1941 individuals from four population-based European cohorts were analysed in relation to body mass index, waist circumference, waist-hip and waistheight ratio within a meta-analytical framework. In a subset of these individuals, data on genome-wide gene expression level, biomarkers of glucose and lipid metabolism were also available. Validation of methylation markers associated with all adiposity measures was performed in 358 individuals. Finally, we investigated the association of obesity-related methylation marks with breast, colorectal cancer and myocardial infarction within relevant subsets of the discovery population.Results: We identified 40 CpG loci with methylation levels associated with at least one adiposity measure. Of these, one CpG locus (cg06500161) in ABCG1 was associated with all four adiposity measures (P=9.07×10−8 to 3.27×10−18) and lower transcriptional activity of the full-length isoform of ABCG1 (P=6.00×10−7), higher triglyceride levels (P=5.37×10−9) and higher triglycerides-to-HDL cholesterol ratio (P=1.03×10−10). Of the 40 informative and obesity-related CpG loci, two (in IL2RB and FGF18) were significantly associated with colorectal cancer (inversely, P<1.6×10−3) and one intergenic locus on chromosome 1 was inversely associated with myocardial infarction (P<1.25×10−3), independently of obesity and established risk factors.Conclusion: Our results suggest that epigenetic changes, in particular altered DNA methylation patterns, may be an intermediate biomarker at the intersection of obesity and obesity-related diseases, and could offer clues as to underlying biological mechanisms.
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| 14. |
- Kosek, Eva, et al.
(författare)
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The translocator protein gene is associated with symptom severity and cerebral pain processing in fibromyalgia
- 2016
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Ingår i: Brain Behavior and Immunity. - : Elsevier BV. - 0889-1591 .- 1090-2139. ; 58, s. 218-227
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Tidskriftsartikel (refereegranskat)abstract
- The translocator protein (TSPO) is upregulated during glia activation in chronic pain patients. TSPO constitutes the rate-limiting step in neurosteroid synthesis, thus modulating synaptic transmission. Related serotonergic mechanisms influence if pro- or anti-nociceptive neurosteroids are produced. This study investigated the effects of a functional genetic polymorphism regulating the binding affinity to the TSPO, thus affecting symptom severity and cerebral pain processing in fibromyalgia patients. Gene-to-gene interactions with a functional polymorphism of the serotonin transporter gene were assessed. Fibromyalgia patients (n = 126) were genotyped regarding the polymorphisms of the TSPO (rs6971) and the serotonin transporter (5-HTTLPR/rs25531). Functional magnetic resonance imaging (n = 24) was used to study brain activation during individually calibrated pressure pain. Compared to mixed/low TSPO affinity binders, the high TSPO affinity binders rated more severe pain (p = 0.016) and fibromyalgia symptoms (p = 0.02). A significant interaction was found between the TSPO and the serotonin transporter polymorphisms regarding pain severity (p < 0.0001). Functional connectivity analyses revealed that the TSPO high affinity binding group had more pronounced pain-evoked functional connectivity in the right frontoparietal network, between the dorsolateral prefrontal area and the parietal cortex. In conclusion, fibromyalgia patients with the TSPO high affinity binding genotype reported a higher pain intensity and more severe fibromyalgia symptoms compared to mixed/low affinity binders, and this was modulated by interaction with the serotonin transporter gene. To our knowledge this is the first evidence of functional genetic polymorphisms affecting pain severity in FM and our findings are in line with proposed glia-related mechanisms. Furthermore, the functional magnetic resonance findings indicated an effect of translocator protein on the affective-motivational components of pain perception.
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| 15. |
- Nazemi, L., et al.
(författare)
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Malnutrition, Prevalence and Relation to Some Risk Factors among Elderly Residents of Nursing Homes in Tehran, Iran
- 2015
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Ingår i: Iranian Journal of Public Health. - 2251-6085. ; 44:2, s. 218-227
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Tidskriftsartikel (refereegranskat)abstract
- Background: Malnutrition and dehydration are two most common types of ailments residents of nursing homes (NH) prone to. It is very important to assess these problems because they can predispose the residents to severe illnesses. The aim of this study was to gather information on nutritional status and its associated risk factors in elderly residents of NHs in Tehran, Iran. Methods: From 16 NHs in Tehran, 263 residents were randomly selected. Data were collected via questionnaires, including demographic characteristics, past medical history, present health problems and daily routines. The MNA questionnaire was used to gather information regarding their nutritional status. Results: The present study showed that 10.3% of the elderly residents in nursing homes were malnourished. 66.4% of males and 70.8% of females were at risk of malnutrition. Multivariate analysis showed that after adjusting for confounders the following elderly-related factors were the independent risk factors of malnutrition: consuming half or less than of the food (OR=8.0, 95% CI=3.7-17.7), having no teeth or good prosthesis (OR=1.7, 95% CI=1.1-2.7), diabetes (OR=1.6, 95% CI=1.1-2.4), smoking (OR=0.6, 95% CI=0.3-1.2), studying (OR=0.4 95% CI=0.2-0.9) and praying in their free time (OR=1.8 95% CI=1.2-2.6). Conclusion: The subjects' health-related factors and their free-time activities and nutritional behavior are the most important factors associated with poor nutrition among elderly residents of NHs; however, further investigation is needed to clarify the role of other factors in maintaining a suitable nutritional plan for them. BASI AA, 1993, JOURNAL OF THE AMERICAN GERIATRICS SOCIETY, V41, P117
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| 16. |
- Cederholm, Tommy, et al.
(författare)
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Diagnostic criteria for malnutrition - An ESPEN Consensus Statement
- 2015
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Ingår i: Clinical Nutrition. - : Elsevier BV. - 0261-5614 .- 1532-1983. ; 34:3, s. 335-340
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To provide a consensus-based minimum set of criteria for the diagnosis of malnutrition to be applied independent of clinical setting and aetiology, and to unify international terminology. Method: The European Society of Clinical Nutrition and Metabolism (ESPEN) appointed a group of clinical scientists to perform a modified Delphi process, encompassing e-mail communications, face-to-face meetings, in group questionnaires and ballots, as well as a ballot for the ESPEN membership. Result: First, ESPEN recommends that subjects at risk of malnutrition are identified by validated screening tools, and should be assessed and treated accordingly. Risk of malnutrition should have its own ICD Code. Second, a unanimous consensus was reached to advocate two options for the diagnosis of malnutrition. Option one requires body mass index (BMI, kg/m(2)) <18.5 to define malnutrition. Option two requires the combined finding of unintentional weight loss (mandatory) and at least one of either reduced BMI or a low fat free mass index (FFMI). Weight loss could be either >10% of habitual weight indefinite of time, or >5% over 3 months. Reduced BMI is <20 or <22 kg/m(2) in subjects younger and older than 70 years, respectively. Low FFMI is <15 and <17 kg/m(2) in females and males, respectively. About 12% of ESPEN members participated in a ballot; >75% agreed; i.e. indicated >= 7 on a 10-graded scale of acceptance, to this definition. Conclusion: In individuals identified by screening as at risk of malnutrition, the diagnosis of malnutrition should be based on either a low BMI (<18.5 kg/m(2)), or on the combined finding of weight loss together with either reduced BMI (age-specific) or a low FFMI using sex-specific cut-offs. (C) 2015 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.
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| 17. |
- Garcia-Loro, F., et al.
(författare)
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PILAR : A Federation of VISIR Remote Laboratory Systems for Educational Open Activities
- 2018
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Ingår i: Proceedings of 2018 IEEE International Conference on Teaching, Assessment, and Learning for Engineering, TALE 2018. - : Institute of Electrical and Electronics Engineers Inc.. - 9781538665220 ; , s. 134-141
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Konferensbidrag (refereegranskat)abstract
- Social demands have promoted an educational approach based on an 'anywhere and anytime' premise. Remote laboratories have emerged as the answer to the demands of technical educational areas for adapting themselves to this scenario. The result has not only benefit distance learning students but has provided new learning scenarios both for teachers and students as well as allowing a flexible approach to experimental topics. However, as any other solution for providing practical scenarios (hands-on labs, virtual labs or simulators), remote labs face several constraints inherited from the subsystems of its deployment - hardware (real instruments, equipment and scenario) and software (analog/digital conversions, communications, workbenches, etc.}. This paper describes the Erasmus+ project Platform Integration of Laboratories based on the Architecture of visiR (PILAR) which deals with several units of the federation installed in different educational institutions and devoted to analog electronics and electrical circuits. Based on the limitations of remote labs, the need for the federation will be justified and its benefits will be described by taking advantage of its strengths. The challenges that have come up during the different stages and the different approaches to design are also going to be described and analyzed. © 2018 IEEE.
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| 18. |
- Gaudet, Mia M, et al.
(författare)
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Blood Levels of Cadmium and Lead in Relation to Breast Cancer Risk in Three Prospective Cohorts.
- 2019
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Ingår i: International Journal of Cancer. - : Wiley-Blackwell. - 0020-7136 .- 1097-0215. ; 144:5, s. 1010-1016
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Tidskriftsartikel (refereegranskat)abstract
- Cadmium and lead have been classified as carcinogens by the International Agency for Research on Cancer. However, their associations with breast cancer risk are unknown despite their persistence in the environment and ubiquitous human exposure. We examined associations of circulating levels of cadmium and lead with breast cancer risk in three case-control studies nested within the Cancer Prevention Study-II (CPS-II) LifeLink Cohort, European Prospective Investigation into Cancer and Nutrition - Italy (EPIC-Italy), and the Northern Sweden Health and Disease Study (NSHDS) cohorts. Metal levels were measured in stored erythrocytes from 1,435 cases and 1,433 controls using inductively coupled plasma-mass spectrometry. Summary relative risks (RR) and 95% confidence intervals (CI) were calculated using random-effects models with each study result weighted by the within- and between-study variances. I2 values were calculated to estimate proportion of between study variation. Using common cut-points, cadmium levels were not associated with breast cancer risk in the CPS-II cohort (continuous RR=1.01, 95% CI 0.76 - 1.34), but were inversely associated with risk in the EPIC- Italy (continuous RR=0.80, 95% CI 0.61 - 1.03) and NSHDS cohorts (continuous RR=0.73, 95% CI 0.54 - 0.97). The inverse association was also evident in the meta-analysis (continuous RR=0.84, 95% CI 0.69 - 1.01) with low between-study heterogeneity. Large differences in lead level distributions precluded a meta-analysis of their association with breast cancer risk; no associations were found in the three studies. Adult cadmium and lead levels were not associated with higher risk of breast cancer in our large meta-analysis.
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| 19. |
- Johansson, Peter A., et al.
(författare)
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Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma
- 2019
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Ingår i: Melanoma Research. - 0960-8931 .- 1473-5636. ; 29:5, s. 483-490
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Tidskriftsartikel (refereegranskat)abstract
- Germline mutations of BRCA1 and BRCA2 predispose individuals to a high risk of breast and ovarian cancer, and elevated risk of other cancers, including those of the pancreas and prostate. BRCA2 mutation carriers may have increased risk of uveal melanoma (UM) and cutaneous melanoma (CM), but associations with these cancers in BRCA1 mutation carriers have been mixed. Here, we further assessed whether UM and CM are associated with BRCA1 or BRCA2 by assessing the presence, segregation and reported/predicted pathogenicity of rare germline mutations (variant allele frequency < 0.01) in families with multiple members affected by these cancers. Whole-genome or exome sequencing was performed on 160 CM and/or UM families from Australia, the Netherlands, Denmark and Sweden. Between one and five cases were sequenced from each family, totalling 307 individuals. Sanger sequencing was performed to validate BRCA1 and BRCA2 germline variants and to assess carrier status in other available family members. A nonsense and a frameshift mutation were identified in BRCA1, both resulting in premature truncation of the protein (the first at p.Q516 and the second at codon 91, after the introduction of seven amino acids due to a frameshift deletion). These variants co-segregated with CM in individuals who consented for testing and were present in individuals with pancreatic, prostate and breast cancer in the respective families. In addition, 33 rare missense mutations (variant allele frequency ranging from 0.00782 to 0.000001 in the aggregated ExAC data) were identified in 34 families. Examining the previously reported evidence of functional consequence of these variants revealed all had been classified as either benign or of unknown consequence. Seeking further evidence of an association between BRCA1 variants and melanoma, we examined two whole-genome/exome sequenced collections of sporadic CM patients (total N = 763). We identified one individual with a deleterious BRCA1 variant, however, this allele was lost (with the wild-type allele remaining) in the corresponding CM, indicating that defective BRCA1 was not a driver of tumorigenesis in this instance. Although this is the first time that deleterious BRCA1 mutations have been described in high-density CM families, we conclude that there is an insufficient burden of evidence to state that the increased familial CM or UM susceptibility is because of these variants. In addition, in conjunction with other studies, we conclude that the previously described association between BRCA2 mutations and UM susceptibility represents a rare source of increased risk.
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| 20. |
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