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- von Holst, S, et al.
(författare)
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Association studies on 11 published colorectal cancer risk loci
- 2010
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Ingår i: British Journal of Cancer. - : Springer Science and Business Media LLC. - 0007-0920 .- 1532-1827. ; 103:4, s. 575-580
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Recently, several genome-wide association studies (GWAS) have independently found numerous loci at which common single-nucleotide polymorphisms (SNPs) modestly influence the risk of developing colorectal cancer. The aim of this study was to test 11 loci, reported to be associated with an increased or decreased risk of colorectal cancer: 8q23.3 (rs16892766), 8q24.21 (rs6983267), 9p24 (rs719725), 10p14 (rs10795668), 11q23.1 (rs3802842), 14q22.2 (rs4444235), 15q13.3 (rs4779584), 16q22.1 (rs9929218), 18q21.1 (rs4939827), 19q13.1 (rs10411210) and 20p12.3 (rs961253), in a Swedish-based cohort. METHODS: The cohort was composed of 1786 cases and 1749 controls that were genotyped and analysed statistically. Genotype-phenotype analysis, for all 11 SNPs and sex, age of onset, family history of CRC and tumour location, was performed. RESULTS: Of eleven loci, 5 showed statistically significant odds ratios similar to previously published findings: 8q23.3, 8q24.21, 10p14, 15q13.3 and 18q21.1. The remaining loci 11q23.1, 16q22.1, 19q13.1 and 20p12.3 showed weak trends but somehow similar to what was previously published. The loci 9p24 and 14q22.2 could not be confirmed. We show a higher number of risk alleles in affected individuals compared to controls. Four statistically significant genotype-phenotype associations were found; the G allele of rs6983267 was associated to older age, the G allele of rs1075668 was associated with a younger age and sporadic cases, and the T allele of rs10411210 was associated with younger age. CONCLUSIONS: Our study, using a Swedish population, supports most genetic variants published in GWAS. More studies are needed to validate the genotype-phenotype correlations.
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- Goobar, Ariel, et al.
(författare)
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THE RISE OF SN 2014J IN THE NEARBY GALAXY M82
- 2014
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Ingår i: Astrophysical Journal Letters. - 2041-8205 .- 2041-8213. ; 784:1
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Tidskriftsartikel (refereegranskat)abstract
- We report on the discovery of SN 2014J in the nearby galaxy M82. Given its proximity, it offers the best opportunity to date to study a thermonuclear supernova (SN) over a wide range of the electromagnetic spectrum. Optical, near-IR, and mid-IR observations on the rising light curve, orchestrated by the intermediate Palomar Transient Factory, show that SN 2014J is a spectroscopically normal Type Ia supernova (SN Ia), albeit exhibiting high-velocity features in its spectrum and heavily reddened by dust in the host galaxy. Our earliest detections start just hours after the fitted time of explosion. We use high-resolution optical spectroscopy to analyze the dense intervening material and do not detect any evolution in the resolved absorption features during the light curve rise. Similar to other highly reddened SNe Ia, a low value of total-to-selective extinction, R-V less than or similar to 2, provides the best match to our observations. We also study pre-explosion optical and near-IR images from Hubble Space Telescope with special emphasis on the sources nearest to the SN location.
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- Grigelioniene, G, et al.
(författare)
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The phenotype range of achondrogenesis 1A
- 2013
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4833 .- 1552-4825. ; 161161A:10, s. 2554-2558
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Tidskriftsartikel (refereegranskat)
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- Hulthén Varli, I, et al.
(författare)
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Both acute and chronic placental inflammation are overrepresented in term stillbirths: a case-control study
- 2012
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Ingår i: Infectious diseases in obstetrics and gynecology. - : Hindawi Limited. - 1098-0997 .- 1064-7449. ; 2012, s. 293867-
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Tidskriftsartikel (refereegranskat)abstract
- Objective. To elucidate differences in the frequency and severity of acute chorioamnionitis (CAM) and chronic villitis in placentas from stillborns compared with liveborns at term and to evaluate other risk factors and placental findings.Design. Case-control study.Setting. All delivery wards in major Stockholm area.Population or Sample. Placentas from stillborn/case (n=126) and liveborn/control (n=273) neonates were prospectively collected between 2002 and 2005.Methods. CAM was assessed on a three-grade scale based on the presence and distribution of polymorphonuclear leucocytes in the chorion/amnion. The presence of vasculitis and funisitis was recorded separately. Chronic villitis was diagnosed by the presence of mononuclear cells in the villous stroma. Relevant clinical data were collected from a specially constructed, web-based database. The statistic analyses were performed using multivariable logistic regression.Results. CAM (especially severe, AOR: 7.39 CI: 3.05–17.95), villous immaturity (AOR: 7.17 CI: 2.66–19.33), villitis (<1 % AOR: 4.31 CI: 1.16–15.98; ≥1 %, AOR: 3.87 CI: 1.38–10.83), SGA (AOR: 7.52 CI: 3.06–18.48), and BMI>24.9(AOR: 2.06 CI: 1.21–3.51) were all connected to an elevated risk of term stillbirth.Conclusions. We found that CAM, chronic villitis, villous immaturity, SGA, and maternal overweight, but not vasculitis or funisitis are independently associated with risk for stillbirth at term.
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- Sahlin, E, et al.
(författare)
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Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases
- 2014
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Ingår i: Fetal diagnosis and therapy. - : S. Karger AG. - 1421-9964 .- 1015-3837. ; 36:4, s. 326-332
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Tidskriftsartikel (refereegranskat)abstract
- <b><i>Introduction:</i></b> The underlying causes of stillbirth are heterogeneous and in many cases unexplained. Our aim was to conclude clinical results from karyotype and quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis of all stillbirths occurring in Stockholm County between 2008 and 2012. By screening a subset of cases, we aimed to study the possible benefits of chromosomal microarray (CMA) in the analysis of the etiology of stillbirth. <b><i>Methods:</i></b> During 2008-2012, 481 stillbirths in Stockholm County were investigated according to a clinical protocol including karyotype or QF-PCR analysis. CMA screening was performed on a subset of 90 cases, corresponding to all stillbirths from 2010 without a genetic diagnosis. <b><i>Results:</i></b> Chromosomal aberrations were detected by karyotype or QF-PCR analysis in 7.5% of the stillbirths. CMA analysis additionally identified two known syndromes, one aberration disrupting a known disease gene, and 26 variants of unknown significance. Furthermore, CMA had a significantly higher success rate than karyotyping (100 vs. 80%, p < 0.001). <b><i>Discussion:</i></b> In the analysis of stillbirth, conventional karyotyping is prone to failure, and QF-PCR is a useful complement. We show that CMA has a higher success rate and aberration detection frequency than these methods, and conclude that CMA is a valuable tool for identification of chromosomal aberrations in stillbirth.
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- Vinnars, Marie-Therese N., et al.
(författare)
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The Number of CD68+ (Hofbauer) Cells is Decreased in Placentas with Chorioamnionitis and with Advancing Gestational Age
- 2010
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Ingår i: Pediatric and Developmental Pathology. - : Sage Publications. - 1093-5266 .- 1615-5742. ; 13:4, s. 300-304
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Tidskriftsartikel (refereegranskat)abstract
- Hofbauer cells are placental macrophages found in chorionic villous stroma; they express classic monocyte/macrophage markers, such as CD68. Little is known about their participation in placental disease and immunologic interactions at the placental interface. The aim of this study was to quantify the amount of Hofbauer cells in placentas complicated, or not, by chorioamnionitis and in placentas from different gestational ages. Fifty-eight 2nd-and 3rd-trimester placentas with the histologic diagnosis of acute chorioamnionitis were compared with 42 control placentas matched according to gestational age. Immunohistochemistry evaluation was performed with a monoclonal anti-CD68 antibody. Five areas of each placenta were photographed and 5 investigators, with the help of a computerized image analysis program, independently evaluated the number of CD68+ cells. Our results showed that there are significantly fewer CD68+ cells per villous area in placentas diagnosed with chorioamnionitis than in those of controls (P < 0.001). Moreover, there was a significant overall decrease in the number of these cells in 3rd as compared with 2nd trimester placentas (P = 0.02), as well as in placentas from term as compared to preterm pregnancies (P = 0.004). Our data indicate that CD68+ Hofbauer cells may be involved in placental infection and possibly associated with the developmental maturation of the fetoplacental unit.
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- Åhlén, Martina, et al.
(författare)
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Histological evaluation of regenerated semitendinosus tendon a minimum of 6 years after harvest for anterior cruciate ligament reconstruction.
- 2014
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Ingår i: Orthopaedic Journal of Sports Medicine. - : SAGE Publications. - 2325-9671. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- Semitendinosus (ST) and/or gracilis (G) autografts are the most used grafts for anterior cruciate ligament (ACL) surgery. The tendons have been shown to be able to regenerate but with focal areas of scar tissue in the short term. There are no long-term histological studies of the regenerated tendons. Hypothesis: In the long term, the regenerated ST tendon normalizes and has a similar histology as the contralateral nonharvested tendon. Study Design: Case-control study; Level of evidence, 3. Methods: Eighteen patients (8 female, 10 male) who underwent ACL surgery using ipsilateral ST/G tendon autografts were included in this study. Percutaneous specimens were obtained from the regenerated ST tendon and the contralateral nonharvested ST tendon under ultrasonographic guidance at a median of 8.4 years (100.5 months; range, 77-129 months) after the harvest procedure. Specimens from the nonoperated side served as controls. The histology and presence of glycosaminoglycans (GAGs) were assessed using a light microscope and a semiquantitative grading system. Results: Thirty-six biopsies were obtained (2 biopsies from each patient). In 5 biopsies, the amount of tissue was too small to analyze in the light microscope, and 1 patient had been operated on bilaterally and was therefore excluded. In total, 24 biopsies were included in the histological analysis. In overall terms, there were no significant differences between the regenerated and nonharvested ST tendon in terms of fiber structure, cellularity, vascularity, and level of GAGs a minimum 6 years after harvest of the ST tendon. However, 3 of the regenerated tendons displayed a loss of fiber structure. Conclusion: The ST tendon regenerates and may regain a histological appearance similar to that of the nonharvested contralateral tendon, as seen in this study a median of 8.4 years after harvesting. However, in some tendons, loss of fiber structure was found.
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