Landspítali University Hospital Research Archive
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Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground: Alpha-fetoprotein (AFP), cancer antigens 15.3, 19.9, and 125, carcinoembryonic antigen, and alkaline phosphatase (ALP) are widely measured in attempts to detect cancer and to monitor treatment response. However, due to lack of sensitivity and specificity, their utility is debated. The serum levels of these markers are affected by a number of nonmalignant factors, including genotype. Thus, it may be possible to improve both sensitivity and specificity by adjusting test results for genetic effects.
Methods: We performed genome-wide association studies of serum levels of AFP (N = 22,686), carcinoembryonic antigen (N = 22,309), cancer antigens 15.3 (N = 7,107), 19.9 (N = 9,945), and 125 (N = 9,824), and ALP (N = 162,774). We also examined the correlations between levels of these biomarkers and the presence of cancer, using data from a nationwide cancer registry.
Results: We report a total of 84 associations of 79 sequence variants with levels of the six biomarkers, explaining between 2.3% and 42.3% of the phenotypic variance. Among the 79 variants, 22 are cis (in- or near the gene encoding the biomarker), 18 have minor allele frequency less than 1%, 31 are coding variants, and 7 are associated with gene expression in whole blood. We also find multiple conditions associated with higher biomarker levels.
Conclusions: Our results provide insights into the genetic contribution to diversity in concentration of tumor biomarkers in blood.
Impact: Genetic correction of biomarker values could improve prediction algorithms and decision-making based on these biomarkers.United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute of Dental & Craniofacial Research (NIDCR
Gætum við gert betur? Vangaveltur um störf fagaðila innan heilbrigðiskerfisins.
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'You should always look at the washing machine without actually being in it!' Thematic framework analysis of patients' understanding of transdiagnostic cognitive behaviour therapy and its mechanisms.
No full textTo access publisher's full text version of this article click on the hyperlink belowObjective: Transdiagnostic cognitive behaviour therapy (TCBT) is an efficacious treatment for anxiety and depression, but its mechanisms of change remain poorly understood. The current study used thematic framework analysis to analyse how patients, recruited in a recent trial on transdiagnostic group CBT (TGCBT), understood the treatment and its mechanisms.
Design: Cross-sectional thematic framework analysis.
Method: The sample included 24 participants suffering from anxiety and/or depression, divided into two groups by treatment efficacy (i.e., group doing well and group doing not so well) in order to evaluate whether different understandings of the treatment affected its efficacy. The participants were interviewed and completed self-report measures. They were encouraged to discuss what they believed to be helpful and unhelpful in the TGCBT and what they believed to be the mechanisms of change in the treatment. Each interview was recorded, transcribed verbatim and themes were identified.
Results: The analysis revealed four overarching themes and 18 subthemes. The overarching themes were as follows: Cognitive and behavioural flexibility, Awareness/understanding of symptoms and triggers, Therapeutic alliance and engagement, and finally Attitudes towards treatment. Four of the 18 subthemes corresponded to a differentiation between the groups: Cognitive flexibility and Comparison with others in the group on the one hand and Cognitive inflexibility and Negative attitudes towards treatment on the other.
Conclusion: The most important difference between the groups appeared to be CBT-specific, that is, cognitive flexibility that characterized the group doing well where thematic analysis did not indicate that other themes were important.
Practitioner points: Findings The analysis revealed four overarching themes and 18 subthemes, four of which corresponded to the difference between the two groups of participants based on treatment efficacy. The four differentiating subthemes were cognitive flexibility and comparison with others, which characterized the group doing well, and cognitive inflexibility and negative attitude towards treatment, which characterized the group doing less well. The theme evaluated as the most important for the efficacy of the transdiagnostic cognitive behaviour therapy and patients' understanding of the treatment was cognitive flexibility, which characterized the group doing well. Limitations Use of qualitative methodology restricts the generalizability of our results. Data are built on answers from only 24 participants.Landspitali - University Hospital Science fund
University of Iceland Research fund
Public Health Science fund of the Directorate of Health in Icelan
In the eye of the storm
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Glaucomatous visual field loss in eyes undergoing first trabeculectomy in Iceland
No full textTo 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 DownloadINNGANGUR
Gláka er hrörnunarsjúkdómur í sjóntaug augans. Eina sannreynda
meðferðin við gláku byggir á að lækka augnþrýsting og hægja
þannig á hraða sjónsviðsskerðingar. Þegar lyfjameðferð dugir
ekki eða gláka er langt gengin er skurðaðgerð beitt. Hjáveituaðgerð er algengasta skurðaðgerðin við gláku. Tilgangur þessarar
rannsóknar er að meta alvarleika sjónsviðsskerðingar þegar sjúklingum er vísað í fyrstu hjáveituaðgerð en það hefur ekki verið rannsakað áður á Íslandi.
AÐFERÐIR
Afturskyggn rannsókn sem nær til allra sjúklinga með
gleiðhornagláku sem undirgengust fyrstu hjáveituaðgerð á Íslandi
í júní 2014 til mars 2016. Upplýsingar um 86 einstaklinga fengust
úr sjúkraskrám. Alvarleiki glákuskemmda var metinn með mean
defect (MD) tölugildi á sjónsviðsrannsókn og sjúklingar flokkaðir í
þrjá hópa eftir því.
NIÐURSTÖÐUR
Meðalaldur var 75 ± 11 ár, 57% karlar. Sjúklingar notuðu að meðaltali 3,0 glákulyf við tilvísun í aðgerð og 64% sjúklinganna tóku þrjú
lyf eða fleiri. Meðalgildi MD var 13,4 ± 7,7dB (bil: 0,8-26,2 dB), 21%
augna höfðu milda sjónsviðsskerðingu (MD12).
ÁLYKTUN
Augu sem undirgengust hjáveituaðgerð á rannsóknartímabilinu
höfðu allt frá mildri til alvarlegrar sjónsviðsskerðingar. Eins og
klínískar leiðbeiningar mæla með, virðist meðferð gláku einstaklingsmiðuð og helsta ábending aðgerðar versnun á sjónsviði þrátt
fyrir lyfjameðferð. Meðaltal sjónsviðsskerðingar reyndist hærra í
okkar rannsókn en í erlendum samanburðarrannsóknum. Augu
með alvarlega sjónsviðsskerðingu höfðu að meðaltali lægsta augnþrýstinginn og þynnstu hornhimnuna. Þetta getur bent til þess að
mikil áhersla sé lögð á háan augnþrýsting sem ábendingu fyrir
aðgerðarþörf en ef til vill of lítil áhersla á sjónsviðsskerðingu og
þunna hornhimnu.Introduction: Glaucoma is a degenerative disease in the optic
nerve with associated visual field defects (VFD). Trabeculectomy
is the most common glaucoma surgery. Surgery is indicated if
glaucomatous optic neuropathy progresses despite tolerated medical treatment or in patients with severe VFD. The purpose of this
paper is to describe the severity of visual field damage in patients
undergoing their first trabeculectomy in Iceland.
Methods: A retrospective review of medical records of all patients
with open angle glaucoma that underwent first trabeculectomy
at Landspítali University Hospital, from June 2013 to March 2016.
Visual fields were examined by Octopus automated perimetry and
the severity of glaucoma damage was staged according to the
mean defect (MD).
Results: 86 eyes were included in the study, mean age 75 ± 11
years, 57% men. Patients used on average three IOP lowering
medications. Mean MD at referral to surgery was 13.4 ± 7.7dB (min
0.8dB, max 26.2 dB), 21% had early glaucomatous damage (MD <
6dB), 23% moderate (MD 6-12 dB) and 56% severe (MD > 12).
Conclusion: VFD at referral to surgery varied from mild VFD to
severe damage. Like clinical guidelines recommend, treatment
seems to be individualized and the most common indication for
surgery was increased VFD despite medical treatment. Mean MD
at referral to surgery was high compared to other studies. Eyes
with severe VFD had on average lower IOP and thinner cornea. This
might indicate that great emphasis is placed on high IOP and perhaps too little emphasis on VFD and cornea thickness.Vísindasjóður Landspítal
Systematic review on psychometric properties of the Multi Dimmensional Anixety Scale for Children (MASC) in an Icelandic sample.
No full textTo 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 DownloadFjölþáttakvíðakvarði fyrir börn (MASC) er skimunarlisti sem metur fjórar víddir kvíða, líkamleg
einkenni, flótta og forðunarhegðun, félagskvíða og aðskilnaðarkvíða/felmtur. Markmið eftirfarandi
rannsóknar var að meta próffræðilega eiginleika kvarðans í íslensku úrtaki með aðferðum
kerfisbundins yfirlits (e. systematic review). Leitað var kerfisbundið að greinum sem fjölluðu um
íslenskar rannsóknir á kvarðanum. Samtals voru 185 útdrættir skimaðir og að lokum voru 20
greinar valdar úr sem uppfylltu þátttökuviðmið. Meðaltöl og staðalfrávik voru svipuð og í erlendum
rannsóknum, hærri í klínísku úrtaki en almennu og stúlkur skoruðu almennt hærra á öllum þáttum.
Innra samræmi var viðunandi í öllum rannsóknum og í samræmi við erlendar rannsóknir, sem og
aðgreiningar- og samleitisréttmæti. Ein íslensk rannsókn skoðaði forspárréttmæti og notast var
við innlagnarúrtak á BUGL og voru niðurstöður í samræmi við erlendar niðurstöður að mestu leyti,
félagskvíðaundirþáttur MASC spáði fyrir um félagskvíðaröskun og undirþátturinn aðskilnaðarkvíði/
felmtur spáði fyrir um aðskilnaðarkvíðaröskun en þar sem úrtakið var innlagnarúrtak gefa
niðurstöður ekki eins skýra mynd og þær erlendu. Tvær íslenskar rannsóknir sýna að fjögurra
þátta lausn sé best fyrir íslenskt úrtak. Á heildina litið er kvarðinn áreiðanlegur og gagnlegur listi
sem fagfólk getur nýtt til að skima eftir kvíðaeinkennum hjá börnum og unglingum.Multidimensional Anixety Scale for Children (MASC) is
a self-report scale assessing four dimensions of anxiety;
physical symptoms, harm avoidance, social anxiety and
separation/panic. The aim of this study was to evaluate
the psychometric properties of the Icelandic version using
systematic review. In total we screened 185 abstracts.
Only 20 publications fulfilled our inclusion criteria. Mean
and standard devatiation were similar to previous studies
in North-America and Europe. We found higher means
in clinical samples than community samples. Girls had
higher means on the total score and all subscales. We
found adequate internal consistency across all studies.
The results also revealed divergent and convergent validity.
One study examined screening efficiency using
an inpatient sample from the Department of Child and
Adolescent Psychiatry at Reykjavik, the results were in
line with previous studies for the most part, as the social
anixety scale predicted social anixety disorder and the
Sálfræðiritið, 24. árg. 2019
Fjölþáttakvíðakvarði: Kerfisbundið yfirlit á próffræðilegum eiginleikum 47
seperation/panic scale predicted seperation anixety disorder
but due to the sample being highly comorbid the
results were not as robust as previous studies. Two studies
reported on factor analysis showing superior fit for the
original four factor solution. We conclude that the MASC
seems to be a reliable and valid screening instrument for
anxiety symptoms in Icelandic youth
Severe desaturations increase psychomotor vigilance task-based median reaction time and number of lapses in obstructive sleep apnoea patients.
No full textTo access publisher's full text version of this article click on the hyperlink belowCurrent diagnostic parameters estimating obstructive sleep apnoea (OSA) severity have a poor connection to the psychomotor vigilance of OSA patients. Thus, we aimed to investigate how the severity of apnoeas, hypopnoeas and intermittent hypoxaemia is associated with impaired vigilance.We retrospectively examined type I polysomnography data and corresponding psychomotor vigilance tasks (PVTs) of 743 consecutive OSA patients (apnoea-hypopnoea index (AHI) ≥5 events·h-1). Conventional diagnostic parameters (e.g. AHI and oxygen desaturation index (ODI)) and novel parameters (e.g. desaturation severity and obstruction severity) incorporating duration of apnoeas and hypopnoeas as well as depth and duration of desaturations were assessed. Patients were grouped into quartiles based on PVT outcome variables. The odds of belonging to the worst-performing quartile were assessed. Analyses were performed for all PVT outcome variables using binomial logistic regression.A relative 10% increase in median depth of desaturations elevated the odds (ORrange 1.20-1.37, p<0.05) of prolonged mean and median reaction times as well as increased lapse count. Similarly, an increase in desaturation severity (ORrange 1.26-1.52, p<0.05) associated with prolonged median reaction time. Female sex (ORrange 2.21-6.02, p<0.01), Epworth Sleepiness Scale score (ORrange 1.05-1.07, p<0.01) and older age (ORrange 1.01-1.05, p<0.05) were significant risk factors in all analyses. In contrast, increases in conventional AHI, ODI and arousal index were not associated with deteriorated PVT performance.These results show that our novel parameters describing the severity of intermittent hypoxaemia are significantly associated with increased risk of impaired PVT performance, whereas conventional OSA severity and sleep fragmentation metrics are not. These results underline the importance of developing the assessment of OSA severity beyond the AHI.Research Committee of the Kuopio University Hospital Catchment Area
Academy of Finland
Seinajoki Central Hospital
Competitive State Research Financing of Expert Responsibility Area of Tampere University Hospital
Business Finland
Paulo Foundation
Paivikki and Sakari Sohlberg Foundation
Research Foundation of the Pulmonary Diseases
Finnish Cultural Foundation
Tampere Tuberculosis Foundation
Finnish Anti-Tuberculosis Foundation
Respiratory Foundation of Kuopio Regio
Pandemics and the economy
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Cigarette Smoking Is Associated With Lower Quadriceps Cross-sectional Area and Attenuation in Older Adults.
No full textTo access publisher's full text version of this article click on the hyperlink belowIntroduction: In addition to well-established links with cardiovascular and respiratory diseases, cigarette smoking may affect skeletal muscle; however, associations with quadriceps atrophy, density, and function are unknown. This study explored the associations of current and former smoking with quadriceps muscle area and attenuation as well as muscle force (assessed as knee extension peak torque) and rate of torque development-a measure of muscle power in older adults.
Methods: Data from 4469 older adults, aged 66-95 years at baseline in the Age, Gene/Environment Susceptibility-Reykjavik Study with measurements of thigh computed tomography, isometric knee extension testing, self-reported smoking history, and potential covariates were analyzed.
Results: Sex differences were observed in these data; therefore, our final analyses are stratified by sex. In men, both former smokers and current smokers had lower muscle area (with β= -0.10, 95% confidence interval [CI] = -0.17 to -0.03 and β = -0.19, 95% CI = -0.33 to -0.05, respectively) and lower muscle attenuation (ie, higher fat infiltration, β = -0.08, 95% CI = -0.16 to -0.01 and β = -0.17, 95% CI = -0.34 to -0.01, respectively) when compared with never smokers. Smoking status was not associated with male peak torque or rate of torque development. In women, current smoking was associated with lower muscle attenuation (β = -0.24, 95% CI = -0.34 to -0.13) compared to never smoking. Among female smokers (current and former), muscle attenuation and peak torque were lower with increasing pack-years.
Conclusions: Results suggest that cigarette smoking is related to multiple muscle properties at older age and that these relationships may be different among men and women.
Implications: This article presents novel data, as it examined for the first time the relationship between smoking and computed tomography-derived quadriceps muscle size (cross-sectional area) and attenuation. This study suggests that current cigarette smoking is related to higher muscle fat infiltration, which may have significant health implications for the older population, because of its known association with poor physical function, falls, and hip fractures.United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Hjartavernd (the Icelandic Heart Association)
Althingi (the Icelandic Parliament)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute on Aging (NIA
Acute lymphoblastic leukemia and down syndrome: 6-mercaptopurine and methotrexate metabolites during maintenance therapy.
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