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- Leachman, Sancy A., et al.
(författare)
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Selection criteria for genetic assessment of patients with familial melanoma
- 2009
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Ingår i: Journal of American Academy of Dermatology. - : Elsevier BV. - 0190-9622. ; 61:4, s. 677-684
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Forskningsöversikt (refereegranskat)abstract
- Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients Who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, We have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The Work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing. (J Am Acad Dermatol 2009;61:677-84.)
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- Haines, M M, et al.
(författare)
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The West London Schools Study : the effects of chronic aircraft noise exposure on child health
- 2001
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Ingår i: Psychological Medicine. - 0033-2917 .- 1469-8978. ; 31:8, s. 1385-1386
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Tidskriftsartikel (refereegranskat)abstract
- Background. Previous field studies have indicated that children's cognitive performance is impaired by chronic aircraft noise exposure. However, these studies have not been of sufficient size to account adequately for the role of confounding factors. The objective of this study was to test whether cognitive impairments and stress responses (catecholamines, cortisol and perceived stress) are attributable to aircraft noise exposure after adjustment for school and individual level confounding factors and to examine whether children exposed to high levels of social disadvantage are at greater risk of noise effects. Methods. The cognitive performance and health of 451 children aged 8-11 years, attending 10 schools in high aircraft noise areas (16 h outdoor Leq > 63 dBA) was compared with children attending 10 matched control schools exposed to lower levels of aircraft noise (16 h outdoor Leq < 57 dBA). Results. Noise exposure was associated with impaired reading on difficult items and raised annoyance, after adjustment for age, main language spoken and household deprivation. There was no variation in the size of the noise effects in vulnerable subgroups of children. High levels of noise exposure were not associated with impairments in mean reading score, memory and attention or stress responses. Aircraft noise was weakly associated with hyperactivity and psychological morbidity. Conclusions. Chronic noise exposure is associated with raised noise annoyance in children. The cognitive results indicate that chronic aircraft noise exposure does not always lead to generalized cognitive effects but, rather, more selective cognitive impairments on difficult cognitive tests in children.
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- Sajic, Tatjana, et al.
(författare)
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Similarities and Differences of Blood N-Glycoproteins in Five Solid Carcinomas at Localized Clinical Stage Analyzed by SWATH-MS
- 2018
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Ingår i: Cell Reports. - : Elsevier BV. - 2211-1247. ; 23:9, s. 5-2831
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is mostly incurable when diagnosed at a metastatic stage, making its early detection via blood proteins of immense clinical interest. Proteomic changes in tumor tissue may lead to changes detectable in the protein composition of circulating blood plasma. Using a proteomic workflow combining N-glycosite enrichment and SWATH mass spectrometry, we generate a data resource of 284 blood samples derived from patients with different types of localized-stage carcinomas and from matched controls. We observe whether the changes in the patient's plasma are specific to a particular carcinoma or represent a generic signature of proteins modified uniformly in a common, systemic response to many cancers. A quantitative comparison of the resulting N-glycosite profiles discovers that proteins related to blood platelets are common to several cancers (e.g., THBS1), whereas others are highly cancer-type specific. Available proteomics data, including a SWATH library to study N-glycoproteins, will facilitate follow-up biomarker research into early cancer detection. Sajic et al. perform a multi-tumor plasma proteomic study in which they enrich and analyze tissue-secreted plasma glycoproteins to examine blood protein changes in early-stage localized cancers. They demonstrate that many proteins secreted upon platelet activation are changed in several tissue carcinomas, whereas others have changes specific to a single carcinoma type.
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