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- De Silva, Wasanthi, et al.
(författare)
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Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals
- 2008
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Ingår i: BMC Cancer. - : Springer Science and Business Media LLC. - 1471-2407 .- 1471-2407. ; 8, s. 214-
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Breast Cancer is the most commonly diagnosed cancer among Sri Lankan women. Germline mutations in the susceptibility genes BRCA1 and BRCA2 in hereditary breast/ovarian cancer, though low in prevalence, are highly penetrant and show geographical variations. There have been only a few reports from Asia on mutations in BRCA1/2 genes and none from Sri Lanka.METHODS: A total of 130 patients with (N = 66) and without (N = 64) a family history of breast cancer, 70 unaffected individuals with a family history of breast cancer and 40 control subjects were analysed for BRCA1 mutations. All but exon 11 were screened by single strand conformation analysis (SSCP) and heteroduplex analysis. PCR products which showed abnormal patterns in SSCP were sequenced. Exon 11 was directly sequenced.RESULTS: Nineteen sequence variants were found in BRCA1 gene. Two novel deleterious frame-shift mutations; c.3086delT/exon11 (in one patient) and c.5404delG/exon21 (in one patient and two of her family members) were identified. A possibly pathogenic novel missense mutation (c.856T>G/exon 11) and three novel intronic variants (IVS7+36C>T, IVS7+41C>T, IVS7+49del15) were characterised. Ten previously reported common polymorphisms and three previously reported intronic variants were also observed.CONCLUSION: After screening of 66 patients with family history and 64 sporadic breast cancer patients, 2 deleterious mutations (c.3086delT and c.5404delG) in two families were identified and two more possibly pathogenic mutations (c.856T>G and IVS17-2A>T) in two families were identified. DATA BASE: BRCA1--Gene Bank: Accession # U14680 Version # 14680.1.
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- Aalbers, J., et al.
(författare)
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A next-generation liquid xenon observatory for dark matter and neutrino physics
- 2023
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Ingår i: Journal of Physics G: Nuclear and Particle Physics. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 50:1
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Forskningsöversikt (refereegranskat)abstract
- The nature of dark matter and properties of neutrinos are among the most pressing issues in contemporary particle physics. The dual-phase xenon time-projection chamber is the leading technology to cover the available parameter space for weakly interacting massive particles, while featuring extensive sensitivity to many alternative dark matter candidates. These detectors can also study neutrinos through neutrinoless double-beta decay and through a variety of astrophysical sources. A next-generation xenon-based detector will therefore be a true multi-purpose observatory to significantly advance particle physics, nuclear physics, astrophysics, solar physics, and cosmology. This review article presents the science cases for such a detector.
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- Tissera, H, et al.
(författare)
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Assessment of severity among adult dengue patients in Colombo district, Sri Lanka
- 2015
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Ingår i: Tropical medicine & international health. - : Wiley-Blackwell. - 1360-2276 .- 1365-3156. ; 20:Suppl. 1, s. 416-416
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: Dengue is a major acute febrile illness in Sri Lanka and reported in epidemic proportions. From 2009 to 2013 an average of 35 000 cases were reported annually with over 60% above 15 years of age. Clinical case classification of dengue was originally based on paediatric patients. Here we assess severity of dengue illness among adults according to both WHO classical and TDR classifications.Methods: A study was conducted in 100 adult patients presenting to ID Hospital, Colombo with fever <7 days, in 2013. All were tested for dengue ELISA NS1/IgM and RT-PCR. Of them 88 were confirmed as having dengue, and were classified into two WHO classifications. Type of care received was categorized into three levels as:Category 1 – general ward,Category 2 – special dengue unit,Category 3 – intensive care unit.Results: According to classical classification, 47 (53.4%) were Dengue Fever (DF) patients. Of them 31and 16 received Category 1 and 2 care respectively. None received Category 3 care. 41 (46.6%) Dengue Haemorrhagic Fever (DHF) patients. Of them 14 received category 1 care while 25 and two received Category 2 and Category 3 care respectively. Classical classification and level of care sensitivity was 62.8% (CI 48–78) while specificity was 68.9% (CI 55–82). According to TDR classification 29 (32.9%) were Dengue patients without warning signs. Of them 22 and 07 received Category 1 and 2 level of care respectively and none went into category 3. 48 (55%) were Dengue with warning signs and 11 (13%) severe dengue patients. Of them 18 received Category 1 care while 39 and two received category 2 and category 3 care respectively. TDR classification and level of care sensitivity was 85.4% (CI 75–95) Specificity 55% (CI 39–70).Conclusions: WHO TDR classification captures more patients who need closer observation in Category 2 and three levels of care than classical classification. This may warrant additional hospital resources in developing country settings.Disclosure: This research was funded by the European Union 7th Framework Programme through 'DengueTools'.
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- Thalagala, N, et al.
(författare)
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Costs of dengue hospitalization and public prevention and control activities in urban Sri Lanka
- 2015
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Ingår i: Tropical medicine & international health. - : Wiley-Blackwell. - 1360-2276 .- 1365-3156. ; 20:Suppl. 1, s. 379-379
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: Dengue has become a major public health problem in Sri Lanka; however, the economic impact of the disease has not been studied in this setting. This study assessed the costs of dengue prevention and control activities and the direct medical costs of dengue hospitalizations in the Colombo District, the most affected district with the highest dengue caseloads in the country.Methods: The study was conducted in the epidemic year of 2012. Using information from the official databases of governmental agencies in charge of the dengue prevention and control activities in each administrative unit, we calculated the total financial costs of these activities and the average cost per capita. The direct medical costs of hospitalized dengue cases in the public health sector were derived using operational budgets and a sample of bed head tickets of adult and pediatric patients available from six secondary-level hospitals.Results: In 2012, the total financial cost of dengue prevention and control activities in the Colombo District was about $998 000, or $0.43 per capita. The mean direct medical costs to the public health care system per case of hospitalized dengue fever (DF) and dengue haemoraggic fever (DHF) were $221 and $316 for paediatric partients, respectively, and $203 and $272 for adult patients, respectively.Conclusion: These preliminary results highlight the high economic burden of dengue to the public health sector in the Colombo district in Sri Lanka during an epidemic year and contribute to the sparse literature on the economic burden of dengue in affected countries.Acknowledgements: This research was funded by ‘DengueTools’ of the 7th Framework Programme of the European Community.Disclosure: Nothing to disclose.
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