65 research outputs found
Measurements of relative Throughput in Reverberation Chamber using Universal Software Radio Peripheral
This paper aims to show how Universal Software Radio Peripheral can be used in conjunction with reverberation chamber to measure throughput of wireless communication systems in Rich Isotropic Multipath environment. The results are in agreement with theories based on the threshold receiver model
Head injury at Reykjavík Hospital, intensive care unit, 1994-1998
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: Reykjavík Hospital is the main trauma hospital in Iceland, receiving all severe head injuries in the country. Incidence of head injury and mortality has been decreasing in the last decades. The aim of this study was to analyse data on admission, treatment and outcome of patients admitted to intensive care unit with severe head injury and compare with other countries. Material and methods: In this study we looked retrospectively at the incidence of severe head injuries admitted to the intensive care unit at Reykjavik Hospital 1994-1998. Number of patients, type of injury, length of stay, length of ventilator treatment. Glasgow Coma Score (GCS), APACHE II (Acute Physiologic and Chronic Health Evaluation) score and mortality was analysed. Results: A total of 236 patients was admitted with an average of 47 patients per year. Traffic accidents were the most common cause of injury and mortality was 11.7%. Ethanol consumption was seen in many cases where fall was the cause of accident, most often in the year 1998 in 75% of cases. Mortality of patients with GCS 8 that was 40% of the patients was must higher or 24.7% compared with patients with GCS >8 where mortality was 3.4%. There was an increase in admissions in 1998, with more severe injuries and significantly longer length of stay and ventilator treatment. Conclusions: Number of patients with head injury was decreasing in comparison with older studies. The results of treatment are rather good in comparison with other countries with relatively low mortality, or 11.7% versus 15-20% in nearby countries. There has been improvement of outcome in patients with the most severe head injury (GCS 8) since 20 years ago, where up to 50% of the patients died but in our study mortality was 24.7%. Alcohol consumption was seen in 46% of cases where fall was the cause of head injury. Those that suffer head trauma are most often young people and preventive measures must continue with full strength in order to decrease the incidence of accidents in our society.Tilgangur: Höfuðáverkum hefur farið fækkandi á síðustu áratugum auk þess sem dánartíðni hefur farið lækkandi. Tilgangur rannsóknarinnar var að athuga hvort slík þróun hefði átt sér stað hér á landi síðastliðin ár. Efniviður og aðferðir: Farið var yfir tölvuskráningu allra sjúklinga sem lögðust inn á gjörgæsludeild Sjúkrahúss Reykjavíkur vegna höfuðáverka á árunum 1994-1998. Athugað var hver slysavaldur var auk þess sem ástand sjúklings við komu var kannað. Einnig var leitað eftir hvernig meðferð þeirra var háttað á gjörgæsludeild og ástand við útskrift. Niðurstöður: Alls lögðust 236 sjúklingar inn á gjörgæsludeild á tímabilinu sem er að meðaltali 47 sjúklingar á ári. Umferðarslys voru algengasta orsök höfuðáverka eða í 43% tilfella og dánartíðni var 11,7%. Ölvun var samverkandi orsök í mörgum tilfellum þar sem um fall var að ræða, mest árið 1998 eða 75%. Dánartíðni þeirra sem voru greindir með alvarlegustu höfuðáverkana, Glasgow Coma Score (GCS) 8 eða minna, sem voru um 40% sjúklinganna, var miklu hærri eða 24,7% á móti 3,4% ef GCS var yfir 8. Sjúklingar sem lögðust inn á árinu 1998 voru með alvarlegri höfuðáverka og meðaltími þeirra sem þurftu að vera í öndunarvél var lengri en árin á undan. Ályktanir: Fjöldi þeirra sem lögðust inn á gjörgæsludeild vegna höfuðáverka fór lækkandi í samanburði við eldri rannsókn sem gerð var hér á landi. Dánartíðni var 11,7% sem er lægri tíðni en meðal nágrannaþjóða okkar en þar er dánartíðni 15-20%. Umtalsverður árangur hefur náðst varðandi meðferð sjúklinga með alvarlegustu höfuðáverkana (GCS 8 eða minna) þar sem dánartíðni hefur lækkað um helming miðað við fyrir 20 árum. Ölvun var samverkandi þáttur í mörgum tilfellum þar sem um fall var að ræða auk þess sem það var vaxandi vandamál á tímabilinu. Aukinn fjöldi sjúklinga með alvarlegri áverka á seinustu tveim árum bendir til að enn sé þörf á öflugu forvarnarstarfi
Two cases of spontaneous regression of metastasis secondary to renal cell carcinoma
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenSpontaneous regression of metastatic renal cell carcinoma is a rare but well documented event, most often involving pulmonary metastasis. Two cases involving brain and pleural metastasis are presented. In both cases nephrectomy was the only treatment.Sjálfkrafa hvarf meinvarpa nýrnafrumukrabbameins er sjaldséð fyrirbæri. Hér er lýst tveimur tilfellum sem vitað er með vissu að hafi greinst hér á landi. Annars vegar er um að ræða sjálfkrafa hvarf meinvarpa í heila og hins vegar í fleiðru. Báðir sjúklingarnir eru á lífi í dag við góða heilsu, 17 og 11 árum eftir greiningu meinvarpann
Microevolutionary change in wild stickleback: Using integrative time-series data to infer responses to selection
Traits of wild animals can change over contemporary timescales, but concluding that evolution played a role requires demonstrating that trait change is linked to genetic change. This is because while selection acts on organisms? traits, evolution in the strict sense is a process resulting in changes to the genome. But natural selection operating in natural ecosystems rarely acts in a single direction, and many factors that cause selection vary through time. We study wild stickleback in a well-studied lake to characterize how the genetics of correlated traits respond to different types of selection (e.g., directional or fluctuating). Our study clearly demonstrates how evolutionary processes cause trait change in the wild on a contemporary timescale. A central goal in evolutionary biology is to understand how different evolutionary processes cause trait change in wild populations. However, quantifying evolutionary change in the wild requires linking trait change to shifts in allele frequencies at causal loci. Nevertheless, datasets that allow for such tests are extremely rare and existing theoretical approaches poorly account for the evolutionary dynamics that likely occur in ecological settings. Using a decade-long integrative phenome-to-genome time-series dataset on wild threespine stickleback (Gasterosteus aculeatus), we identified how different modes of selection (directional, episodic, and balancing) drive microevolutionary change in correlated traits over time. Most strikingly, we show that feeding traits changed by as much 25% across 10 generations which was driven by changes in the genetic architecture (i.e., in both genomic breeding values and allele frequencies at genetic loci for feeding traits). Importantly, allele frequencies at genetic loci related to feeding traits changed at a rate greater than expected under drift, suggesting that the observed change was a result of directional selection. Allele frequency dynamics of loci related to swimming traits appeared to be under fluctuating selection evident in periodic population crashes in this system. Our results show that microevolutionary change in a wild population is characterized by different modes of selection acting simultaneously on different traits, which likely has important consequences for the evolution of correlated traits. Our study provides one of the most thorough descriptions to date of how microevolutionary processes result in trait change in a natural population
High expression of the vacuole membrane protein 1 (VMP1) is a potential marker of poor prognosis in HER2 positive breast cancer.
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBACKGROUND:
Fusion genes result from genomic structural changes, which can lead to alterations in gene expression that supports tumor development. The aim of the study was to use fusion genes as a tool to identify new breast cancer (BC) genes with a role in BC progression.
METHODS:
Fusion genes from breast tumors and BC cell lines were collected from publications. RNA-Seq data from tumors and cell lines were retrieved from databanks and analyzed for fusions with SOAPfuse or the analysis was purchased. Fusion genes identified in both tumors (n = 1724) and cell lines (n = 45) were confirmed by qRT-PCR and sequencing. Their individual genes were ranked by selection criteria that included correlation of their mRNA level with copy number. The expression of the top ranked gene was measured by qRT-PCR in normal tissue and in breast tumors from an exploratory cohort (n = 141) and a validation cohort (n = 277). Expression levels were correlated with clinical and pathological factors as well as the patients' survival. The results were followed up in BC cohorts from TCGA (n = 818) and METABRIC (n = 2509).
RESULTS:
Vacuole membrane protein 1 (VMP1) was the most promising candidate based on specific selection criteria. Its expression was higher in breast tumor tissue than normal tissue (p = 1x10-4), and its expression was significantly higher in HER2 positive than HER2 negative breast tumors in all four cohorts analyzed. High expression of VMP1 associated with breast cancer specific survival (BCSS) in cohort 1 (hazard ratio (HR) = 2.31, CI 1.27-4.18) and METABRIC (HR = 1.26, CI 1.02-1.57), and also after adjusting for HER2 expression in cohort 1 (HR = 2.03, CI 1.10-3.72). BCSS was not significant in cohort 2 or TCGA cohort, which may be due to differences in treatment regimens.
CONCLUSIONS:
The results suggest that high VMP1 expression is a potential marker of poor prognosis in HER2 positive BC. Further studies are needed to elucidate how VMP1 could affect pathways supportive of tumorigenesis
Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files.
This article is open access.Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 × 10(-6)]. rs700635[C] is also associated with failures to correctly splice out CASP8 intron 8 in breast and prostate tumours and in corresponding normal tissues. Investigation of rs700635[C] carriers revealed that they have a human-specific short interspersed element-variable number of tandem repeat-Alu (SINE-VNTR-Alu), subfamily-E retrotransposon (SVA-E) inserted into CASP8 intron 8. The SVA-E shows evidence of prior activity, because it has transduced some CASP8 sequences during subsequent retrotransposition events. Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] (r(2) = 0.999), which showed associations with both the splicing anomalies (P = 6.5 × 10(-32)) and with protection against prostate cancer (OR = 0.91, P = 3.8 × 10(-7)).National Cancer Research Institute (NCRI)
G0500966/75466
Department of Health, Medical Research Council
Cancer Research UK
University of Cambridge
NIHR
Department of Health
Anniversary Fund of the Austrian National Bank
15079
Medical and Scientific Fund of the Mayor of the City of Vienna
10077
Common Fund of the Office of the Director of the National Institutes of Health
NCI
NHGRI
NHLBI
NIDA
NIMH
NINDS
NCI\SAIC-Frederick, Inc. (SAIC-F)
10XS170
Roswell Park Cancer Institute
10XS171
Science Care, Inc.
X10S172
SAIC-F
10ST1035
HHSN261200800001E
deCODE genetics/AMGEN
HHSN268201000029C
DA006227
DA033684
N01MH000028
MH090941
MH101814
MH090951
MH090937
MH101820
MH101825
MH090936
MH101819
MH090948
MH101782
MH101810
MH10182
Defining new reference intervals for serum free light chains in individuals with chronic kidney disease : Results of the iStopMM study
Publisher Copyright: © 2022. The Author(s). © 2022. The Author(s).Serum free light chain (FLC) concentration is greatly affected by kidney function. Using a large prospective population-based cohort, we aimed to establish a reference interval for FLCs in persons with chronic kidney disease (CKD). A total of 75422 participants of the iStopMM study were screened with serum FLC, serum protein electrophoresis and immunofixation. Estimated glomerular filtration rate (eGFR) was calculated from serum creatinine. Central 99% reference intervals were determined, and 95% confidence intervals calculated. Included were 6461 (12%) participants with measured FLCs, eGFR < 60 mL/min/1.73 m2, not receiving renal replacement therapy, and without evidence of monoclonality. Using current reference intervals, 60% and 21% had kappa and lambda FLC values outside the normal range. The FLC ratio was outside standard reference interval (0.26-1.65) in 9% of participants and outside current kidney reference interval (0.37-3.10) in 0.7%. New reference intervals for FLC and FLC ratio were established. New reference intervals for the FLC ratio were 0.46-2.62, 0.48-3.38, and 0.54-3.30 for eGFR 45-59, 30-44, and < 30 mL/min/1.73 m2 groups, respectively. The crude prevalence of LC-MGUS in CKD patients was 0.5%. We conclude that current reference intervals for FLC and FLC ratio are inaccurate in CKD patients and propose new eGFR based reference intervals to be implemented.Peer reviewe
Genetic correction of PSA values using sequence variants associated with PSA levels
To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldMeasuring serum levels of the prostate-specific antigen (PSA) is the most common screening method for prostate cancer. However, PSA levels are affected by a number of factors apart from neoplasia. Notably, around 40% of the variability of PSA levels in the general population is accounted for by inherited factors, suggesting that it may be possible to improve both sensitivity and specificity by adjusting test results for genetic effects. To search for sequence variants that associate with PSA levels, we performed a genome-wide association study and follow-up analysis using PSA information from 15,757 Icelandic and 454 British men not diagnosed with prostate cancer. Overall, we detected a genome-wide significant association between PSA levels and single-nucleotide polymorphisms (SNPs) at six loci: 5p15.33 (rs2736098), 10q11 (rs10993994), 10q26 (rs10788160), 12q24 (rs11067228), 17q12 (rs4430796), and 19q13.33 [rs17632542 (KLK3: I179T)], each with P(combined) <3 × 10(-10). Among 3834 men who underwent a biopsy of the prostate, the 10q26, 12q24, and 19q13.33 alleles that associate with high PSA levels are associated with higher probability of a negative biopsy (odds ratio between 1.15 and 1.27). Assessment of association between the six loci and prostate cancer risk in 5325 cases and 41,417 controls from Iceland, the Netherlands, Spain, Romania, and the United States showed that the SNPs at 10q26 and 12q24 were exclusively associated with PSA levels, whereas the other four loci also were associated with prostate cancer risk. We propose that a personalized PSA cutoff value, based on genotype, should be used when deciding to perform a prostate biopsy.info:eu-repo/grantAgreement/EC/FP7/202059/
218071
Urological Research Foundation
P50 CA90386-05S2
Robert H. Lurie Comprehensive Cancer Center
p30 CA60553
Health Technology Assessment Programme
96/20/06
96/20/99
Department of Health, England
Cancer Research UK
C522/A8649
Medical Research Council of England
G0500966
ID 75466
National Cancer Research Institute (NCRI), UK
Southwest National Health Service Research and Development
NCRI
National Institute for Health Resear
Prior cancer and risk of monoclonal gammopathy of undetermined significance: a population-based study in Iceland and Sweden
There is some evidence that a prior cancer is a risk factor for the development of multiple myeloma (MM). If this is true, prior cancer should be associated with higher prevalence or increased progression rate of monoclonal gammopathy of undetermined significance (MGUS), the precursor of MM and related disorders. Those with a history of cancer might therefore present a target population for MGUS screening. This two-part study is the first study to evaluate the relationship of MGUS and prior cancers. First, we evaluated whether prior cancers were associated with having MGUS at the time of screening in the Iceland Screens Treats or Prevents Multiple Myeloma (iStopMM) study that includes 75,422 individuals screened for MGUS. Next, we evaluated the association of prior cancer and the progression of MGUS to MM and related disorders in a population-based cohort of 13,790 Swedish individuals with MGUS. A history of prior cancer was associated with a modest increase in the risk of MGUS (odds ratio (OR)= 1.10; 95% confidence interval (CI): 1.00-1.20). This excess risk was limited to prior cancers in the year preceding MGUS screening. A history of prior cancer associated with the progression of MGUS, except for myeloid malignancies which were associated with lower risk of progression (hazard ratio (HR)=0.37; 95%CI: 0.16-0.89; p=0.028). Our findings indicate that a prior cancer are not a significant aetiological factor in plasma cell disorders. The findings do not warrant MGUS screening or different management of MGUS in those with a prior cancer
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.</p
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