SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Bergman Julia) "

Sökning: WFRF:(Bergman Julia)

  • Resultat 1-50 av 57
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Malmborg, Julia S, 1988-, et al. (författare)
  • Worse health status, sleeping problems, and anxiety in 16-year-old students are associated with chronic musculoskeletal pain at three-year follow-up
  • 2019
  • Ingår i: BMC Public Health. - London : Springer Science and Business Media LLC. - 1471-2458. ; 19:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Chronic musculoskeletal pain is common in adolescents, and it has been shown that adolescents with pain may become young adults with pain. Pain often coincides with psychosomatic symptoms in adults, but little is known about longitudinal associations and predictors of pain in adolescents. The aim was to investigate chronic musculoskeletal pain and its associations with health status, sleeping problems, stress, anxiety, depression, and physical activity in 16-year-old students at baseline, and to identify risk factors using a three-year follow-up. Methods: This was a longitudinal study of 256 students attending a Swedish upper secondary school. Questionnaires regarding chronic musculoskeletal pain and distribution of pain (mannequin), health status (EQ-5D3 L), sleeping problems (Uppsala Sleep Inventory), stress symptoms (single-item question), anxiety and depression (Hospital Anxiety and Depression Scale), and physical activity (International Physical Activity Questionnaire) were issued at baseline and follow-up. Student's t-test and chi2 test were used for descriptive statistics and logistic regression analyses were used to study associations between chronic pain and independent variables. Results: Fifty-two out of 221 students at baseline (23.5%) and 39 out of 154 students at follow-up (25.3%) were categorized as having chronic musculoskeletal pain. Chronic musculoskeletal pain at follow-up was separately associated with reporting of an EQ-5D value below median (OR 4.06, 95% CI 1.83-9.01), severe sleeping problems (OR 3.63, 95% CI 1.69-7.82), and possible anxiety (OR 4.19, 95% CI 1.74-10.11) or probable anxiety (OR 3.82, 95% CI 1.17-12.48) at baseline. Similar results were found for associations between chronic musculoskeletal pain and independent variables at baseline. In multiple logistic regression analysis, chronic musculoskeletal pain at baseline was a predictor of chronic musculoskeletal pain at follow-up (OR 2.99, 95% CI 1.09-8.24, R-2 = 0.240). Conclusion: Chronic musculoskeletal pain at baseline was the most important predictor for reporting chronic musculoskeletal pain at the three-year follow-up, but a worse health status, severe sleeping problems, and anxiety also predicted persistence or development of chronic musculoskeletal pain over time. Interventions should be introduced early on by the school health services to promote student health.
  •  
2.
  • Malmborg, Julia, 1988-, et al. (författare)
  • Sleeping Problems and Anxiety is Associated to Chronic Multisite Musculoskeletal Pain in Swedish High School Students
  • 2018
  • Ingår i: Annals of the Rheumatic Diseases. - London : BMJ Publishing Group Ltd. - 0003-4967 .- 1468-2060. ; 77:Suppl. 2, s. 226-226
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Background: The relationship between chronic multisite musculoskeletal pain (CMP) and sleep is complex, where pain can lead to sleeping problems and lack of sleep can intensify the pain perception. Most previous studies relates to adults, but adolescents may also suffer from CMP, and there is a need for more knowledge regarding the relationships between CMP and sleeping problems, stress, anxiety, depression, and health status.Objectives: To study background factors associated to CMP in first year Swedish high school students.Methods: First year Swedish high school students (n=296) were invited to complete questionnaires on chronic pain (mannequin with 18 body regions), sleeping problems (Uppsala Sleep Inventory, four items scored from 1–5), stress (ELO questions, scored from 1–5), anxiety and depression (Hospital Anxiety and Depression Scale, scored from 0–21), health status (EQ-5D, scored from 0 to 1, worst to best) and physical activity (International Physical Activity Questionnaire, categorised into low, moderate and high levels). Stress and sleeping items were dichotomized into 1–3 points (best) vs 4–5 points (worst). Individuals scoring at least severe problems (4 points) at one or more sleeping items were classified as having severe sleeping problems. HADS were categorised as non-cases (0–7), possible7–10 and probable cases (11–21 points). Students were grouped as having CMP (pain present in ≥3 regions) or not (no chronic pain or chronic pain in 1–2 regions). Multiple logistic regression analyses (adjusted for sex) with CMP as dependent variable were performed in SPSS, version 24.Results: 254 students (86% of total sample, 87 boys and 167 girls) with a mean age of 16.1 (SD 0.6) years participated in the study. CMP was present in 25 (9.8%) students with no differences between boys and girls (8.0% vs 10.8%; p=0.488). Having CMP was associated with reporting severe sleeping problems (OR 2.49, 95% CI: 1.06 to 5.81, p=0.035) with initiating sleep, maintaining sleep, early morning awakenings and/or not feeling restored after sleep in comparison to the other students. Students with CMP were more likely to be categorised as probable cases for anxiety (OR 3.06, 95% CI: 1.09 to 8.61, p=0.034), but there were no associations for possible cases for anxiety (OR 1.15, 95% CI: 0.38 to 3.51, p=0.800), possible cases (OR 2.03, 95% CI: 0.63 to 6.54), or probable cases for depression (OR 3.35, 95% CI: 0.33 to 33.83). There was a nearly significant association between stress and belonging to the CMP group (OR 2.31, 95% CI: 0.97 to 5.53, p=0.059). A higher self-reported health status was associated to a lower likelihood for CMP (OR 0.04, 95% CI: 0.01 to 0.27, p=0.001). Distribution of physical activity levels of low, moderate and high was not significantly associated to having CMP in comparison with not having it.Conclusions: One in ten high school students fulfilled criteria for having chronic multisite musculoskeletal pain. CMP was associated to sleeping problems, anxiety, and a worse health status. The results from this study may be used by school health-care professionals in their preventive work to promote student’s health.Disclosure of Interest: None declared
  •  
3.
  • Mylrea-Foley, Bronacha, et al. (författare)
  • Perinatal and 2-year neurodevelopmental outcome in late preterm fetal compromise : the TRUFFLE 2 randomised trial protocol
  • 2022
  • Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 12:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Following the detection of fetal growth restriction, there is no consensus about the criteria that should trigger delivery in the late preterm period. The consequences of inappropriate early or late delivery are potentially important yet practice varies widely around the world, with abnormal findings from fetal heart rate monitoring invariably leading to delivery. Indices derived from fetal cerebral Doppler examination may guide such decisions although there are few studies in this area. We propose a randomised, controlled trial to establish the optimum method of timing delivery between 32 weeks and 36 weeks 6 days of gestation. We hypothesise that delivery on evidence of cerebral blood flow redistribution reduces a composite of perinatal poor outcome, death and short-term hypoxia-related morbidity, with no worsening of neurodevelopmental outcome at 2 years.Methods and analysis: Women with non-anomalous singleton pregnancies 32+0 to 36+6 weeks of gestation in whom the estimated fetal weight or abdominal circumference is <10th percentile or has decreased by 50 percentiles since 18-32 weeks will be included for observational data collection. Participants will be randomised if cerebral blood flow redistribution is identified, based on umbilical to middle cerebral artery pulsatility index ratio values. Computerised cardiotocography (cCTG) must show normal fetal heart rate short term variation (>= 4.5 msec) and absence of decelerations at randomisation. Randomisation will be 1:1 to immediate delivery or delayed delivery (based on cCTG abnormalities or other worsening fetal condition). The primary outcome is poor condition at birth and/or fetal or neonatal death and/or major neonatal morbidity, the secondary non-inferiority outcome is 2-year infant general health and neurodevelopmental outcome based on the Parent Report of Children's Abilities-Revised questionnaire.Ethics and dissemination: The Study Coordination Centre has obtained approval from London-Riverside Research Ethics Committee (REC) and Health Regulatory Authority (HRA). Publication will be in line with NIHR Open Access policy.
  •  
4.
  • Back, Julia, et al. (författare)
  • Evidence of support used for drug treatments in pediatric cardiology
  • 2021
  • Ingår i: Health Science Reports. - : WILEY. - 2398-8835. ; 4:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Background and aims: Clinical support systems are widely used in pediatric care. The aim of this study was to assess the support for drug treatments used at pediatric cardiac wards and intensive care units in Sweden.Methods: Drug information, such as type of drug, indication, dose, and route of administration, for all in-hospital pediatric cardiac patients, was included in the study. Treatments were classified as either on-label (based on product information) or off-label. Support for off-label treatment was stratified by the use of clinical support systems (the national database on drugs, local, or other clinical experience guidelines).Results: In all, 28 patients were included in the study. The total number of drug treatments was 233, encompassing 65 different drugs. Overall, 175 (75%) treatments were off-label. A majority of off-label drug treatments were supported by other sources of information shared by experts. A total of 7% of the drug treatments were used without support.Conclusion:  Off-label drug treatment is still common in Swedish pediatric cardiac care. However, the majority of treatments were supported by the experience shared in clinical support systems.Key Points:Seventy-five percent of all prescriptions in pediatric cardiology care were off-label.A majority of patients received three or more drug treatments off-label.Use of clinical support systems and guidelines was common, but in 7% of all drug treatments, no support was found for the chosen treatment.
  •  
5.
  • Barouki, Robert, et al. (författare)
  • The COVID-19 pandemic and global environmental change : Emerging research needs
  • 2021
  • Ingår i: Environment International. - : Elsevier BV. - 0160-4120 .- 1873-6750. ; 146
  • Tidskriftsartikel (refereegranskat)abstract
    • The outbreak of COVID-19 raised numerous questions on the interactions between the occurrence of new infections, the environment, climate and health. The European Union requested the H2020 HERA project which aims at setting priorities in research on environment, climate and health, to identify relevant research needs regarding Covid-19. The emergence and spread of SARS-CoV-2 appears to be related to urbanization, habitat destruction, live animal trade, intensive livestock farming and global travel. The contribution of climate and air pollution requires additional studies. Importantly, the severity of COVID-19 depends on the interactions between the viral infection, ageing and chronic diseases such as metabolic, respiratory and cardiovascular diseases and obesity which are themselves influenced by environmental stressors. The mechanisms of these interactions deserve additional scrutiny. Both the pandemic and the social response to the disease have elicited an array of behavioural and societal changes that may remain long after the pandemic and that may have long term health effects including on mental health. Recovery plans are currently being discussed or implemented and the environmental and health impacts of those plans are not clearly foreseen. Clearly, COVID-19 will have a longlasting impact on the environmental health field and will open new research perspectives and policy needs.
  •  
6.
  • Barrett, Jennifer H., et al. (författare)
  • Genome-wide association study identifies three new melanoma susceptibility loci
  • 2011
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1108-1113
  • Tidskriftsartikel (refereegranskat)abstract
    • We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 x 10(-9)), an SNP in MX2 (rs45430, P = 2.9 x 10-9) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 x 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 x 10(-7) under a fixed-effects model and P = 1.2 x 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.
  •  
7.
  •  
8.
  •  
9.
  • Bergman, Frida, 1984-, et al. (författare)
  • Treadmill workstations in office workers who are overweight or obese : a randomised controlled trial
  • 2018
  • Ingår i: The Lancet Public Health. - : The Lancet Publishing Group. - 2468-2667. ; 3:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Treadmill workstations that enable office workers to walk on a treadmill while working at their computers might increase physical activity in offices, but long-term effects are unknown. We therefore investigated whether treadmill workstations in offices increased daily walking time.Methods: We did a randomised controlled trial of healthy office workers who were either overweight or obese. We recruited participants from 13 different companies, which comprised 17 offices, in Umeå, Sweden. We included people who were aged 40-67 years, had sedentary work tasks, and had a body-mass index (BMI) between 25 kg/m2 and 40 kg/m2. After the baseline measurement, we stratified participants by their BMI (25-30 kg/m2 and >30 to 40 kg/m2); subsequently, an external statistician randomly assigned these participants (1:1) to either the intervention group (who received treadmill workstations for optional use) or the control group (who continued to work at their sit-stand desks as usual). Participants in the intervention group received reminders in boosting emails sent out to them at four occasions during the study period. Researchers were masked to group assignment until after analysis of the primary outcome. After the baseline measurement, participants were not masked to group belongings. The primary outcome was total daily walking time at weekdays and weekends, measured at baseline, 2 months, 6 months, 10 months, and 13 months with the accelerometer activPAL (PAL Technologies, Glasgow, UK), which was worn on the thigh of participants for 24 h a day for 7 consecutive days. We used an intention-to-treat approach for our analyses. This trial is registered with ClinicalTrials.gov, number NCT01997970, and is closed to new participants.Findings: Between Nov 1, 2013, and June 30, 2014, a total of 80 participants were recruited and enrolled (n=40 in both the intervention and control groups). Daily walking time during total time awake at weekdays increased between baseline and 13 months by 18 min (95% CI 9 to 26) in the intervention group and 1 min (-7 to 9) in the control group (difference 22 min [95% CI 7 to 37], pinteraction=0·00045); for weekend walking, the change from baseline to 13 months was 5 min (-8 to 18) in the intervention group and 8 min (-5 to 21) in the control group (difference -1 min [-19 to 17]; pinteraction=0·00045). Neither measure met our predetermined primary outcome of 30 min difference in total walking time between the intervention and control group, so the primary outcome of the trial was not met. One adverse event was reported in a participant who accidently stepped on their Achilles tendon.Interpretation: In a sedentary work environment, treadmill workstations result in a statistically significant but smaller-than-expected increase in daily walking time. Future studies need to investigate how increasing physical activity at work might have potentially compensatory effects on non-work activity.
  •  
10.
  • Bergman, Julia, 1983-, et al. (författare)
  • A six marker panel for differential diagnostics of female cancers
  • Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
    • Aim: To present a new immunohistochemistry-based panel for clinical differential diagnostics of breast, ovarian, endometrial and cervical cancer. Background: Diagnostics of metastatic ER-positive tumors can present a clinical challenge. Breast and gynecological cancers are to a varying degree ER+, and can have similar growth patterns. The close proximity of the ovaries, endometrium and cervix also renders difficulties to distinguish between primary gynecological cancer in advanced stages. Material and Methods: As a discovery set for the selection of antibodies, tissue microarray (TMA) blocks containing 60 breast, 60 ovarian, 60 endometrial and 60 cervical tumor samples of predominantly metastatic sources were sectioned and immunohistochemically stained using 43 different primary antibodies, including both well accepted diagnostic markers and novel candidate markers. The results were analyzed for best possible differential diagnostic power to discriminate between these forms of female cancer. Results: By the implementation of a decision tree we were able to define a six-marker panel including antibodies detecting the WT1, ZAG, VIM, CK5, GATA3 and PAX8 proteins. This antibody panel enabled differentiation between breast, ovarian, endometrial and cervical cancer with an accuracy of 80%. The selected markers were then examined in a second cohort of 452 cancer samples comprising 60 breast, 48 ovary, 233 endometrium and 111 cervix patients. A decision tree classifier was used to evaluate the performance of various combinations of these markers in differential diagnosis of the female cancers.  The results suggest that this panel could be used in a clinical setting to achieve a more accurate diagnosis and thus provide a basis for further prospective clinical studies.
  •  
11.
  • Bergman, Julia, 1983- (författare)
  • Aspects of Gene Expression Profiling in Disease and Health
  • 2017
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • The aim of this thesis is to in various ways explore protein expression in human normal tissue and in cancer and to apply that knowledge in biomarker discovery.In Paper I the prognostic significance of RNA-binding motif protein 3 (RBM3) is explored in malignant melanoma. To further evaluate the prognostic significance of RBM3 expression was assessed in 226 incident cases of malignant melanoma from the prospective populationbased cohort study Malmö Diet and Cancer Study using tissue microarray technique (TMA). RBM3 was shown to be down regulated in metastatic melanoma and high nuclear expression in the primary tumor was an independent marker of prolonged over all survival. As a tool to facilitate clinical biomarker studies the Human Protein Atlas has created a tissue dictionary as an introduction to human histology and histopathology. In Paper II this work is introduced.A cancer diagnosis can be a complex process with difficulties of establishing tumor type in localized disease or organ of origin in generalized disease. Immunohistochemically assisted diagnosis of cancer is common practice among pathologists where its application combined with known protein expression profiles of different cancer types, can strengthen or help dismiss a suspected diagnosis. In Paper III the diagnostic performance of 27 commonly used antibodies are tested in a predominantly metastatic, multicancer cohort using TMA technique. Overall these 27 diagnostic markers showed a low sensitivity and specificity for its intended use, highlighting the need for novel, more specific markers.Breast, ovarian, endometrial and ovarian cancers affect predominantly women. Differential diagnostics between these cancer types can be challenging. In Paper IV an algorithm, based on six different IHC markers, to differentiate between these cancer types is presented. A new diagnostic marker for breast cancer, namely ZAG is also introduced.In Paper V the transcriptomic landscape of the adrenal gland is explored by combining a transcriptomic approach with a immunohistochemistry based proteomic approach. In the adrenal gland we were able to detect 253 genes with an elevated pattern of expression in the adrenal gland, as compared to 31 other normal human tissue types analyzed. This combination of a transcriptomic and immunohistochemical approach provides a foundation for a deeper understanding of the adrenal glands function and physiology.
  •  
12.
  • Bergman, Julia, et al. (författare)
  • The human adrenal gland proteome defined by transcriptomics and antibody-based profiling.
  • 2017
  • Ingår i: Endocrinology. - : Endocrine Society. - 0013-7227 .- 1945-7170. ; 158:2, s. 239-251
  • Tidskriftsartikel (refereegranskat)abstract
    • The adrenal gland is a composite endocrine organ with vital functions that include the synthesis and release of glucocorticoids and catecholamines. To define the molecular landscape that underlies the specific functions of the adrenal gland, we combined a genome-wide transcriptomics approach using messenger RNA sequencing of human tissues with immunohistochemistry-based protein profiling on tissue microarrays. Approximately two-thirds of all putative protein coding genes were expressed in the adrenal gland, and the analysis identified 253 genes with an elevated pattern of expression in the adrenal gland, with only 37 genes showing a markedly greater expression level (more than fivefold) in the adrenal gland compared with 31 other normal human tissue types analyzed. The analyses allowed for an assessment of the relative expression levels for well-known proteins involved in adrenal gland function but also identified previously poorly characterized proteins in the adrenal cortex, such as the FERM (4.1 protein, ezrin, radixin, moesin) domain containing 5 and the nephroblastoma overexpressed (NOV) protein homolog. We have provided a global analysis of the adrenal gland transcriptome and proteome, with a comprehensive list of genes with elevated expression in the adrenal gland and spatial information with examples of protein expression patterns for corresponding proteins. These genes and proteins constitute important starting points for an improved understanding of the normal function and pathophysiology of the adrenal glands.
  •  
13.
  • Bergman-Larsson, Julia, et al. (författare)
  • Combined expression of HOXA11 and CD10 identifies endometriosis versus normal tissue and tumors
  • 2022
  • Ingår i: Annals of Diagnostic Pathology. - : Elsevier. - 1092-9134 .- 1532-8198. ; 56
  • Tidskriftsartikel (refereegranskat)abstract
    • The gold standard for diagnosing endometriosis is by laparoscopic visual demonstration of ectopic endometrial lesions outside the uterus, preferably verified by biopsy and microscopical examination. Molecular markers to facilitate the microscopical diagnosis of endometriosis and for distinguishing endometriosis from other benign and malignant lesions are lacking. Our aim was to test and validate an immunohistochemical antibody panel for improved diagnostic accuracy of endometriosis. Both CD10 and HOXA11 have been implicated in regulation of endometrial homeostasis. Here we have analyzed the expression pattern of these two proteins using immunohistochemistry on human tissues in a tissue microarray format. CD10 and HOXA11 expression in endometriosis lesions were compared to expression patterns in a range of normal tissues and in primary- and metastatic lesions of endometrial-, cervical- and ovarian cancer. HOXA11 and CD10 were expressed in 98% and 91% of endometriosis lesions and the combined double-positive expression profile of both HOXA11 and CD10 was highly sensitive for ectopic endometrial tissue (90%). The specificity and sensitivity for this double-positive signature in endometriosis was significantly different from all investigated tissues, cancers and metastases except normal, eutopic endometrial- and cervical mucosa. The combination of HOXA11 and CD10 expression profiles provides a useful tool to identify ectopic endometrial tissue and for distinguishing endometriosis from various types of gynecological malignancies and metastases.
  •  
14.
  • Branstrom, Richard, et al. (författare)
  • Perceptions of genetic research and testing among members of families with an increased risk of malignant melanoma
  • 2012
  • Ingår i: European Journal of Cancer. - : Elsevier BV. - 1879-0852 .- 0959-8049. ; 48:16, s. 3052-3062
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Several melanoma susceptibility genes have been identified. As part of the international genetic research programme of the GenoMEL consortiums research on genetic mutations in melanoma families, the aim of this study was to examine family members' views about their risk of melanoma, gene testing and genetic research. Methods: Self-report data were gathered using online and paper-based surveys available in four languages among 312 individuals (62% from Europe, 18% from Australia, 13% from the United States of America (USA) and 7% from Israel). Results: Fifty three percent had been diagnosed with a melanoma, and 12% had a positive susceptibility gene test result. Respondents with many moles and freckles were more likely to perceive themselves at risk for developing melanoma (odds ratio [OR](Freckles) = 2.24 with 95% confidence interval [CI] = 1.18-4.26; ORMany (moles) = 6.92, 95% CI = 2.37-20.23). Respondents who had received a non-informative (negative) genetic test result were much less likely to perceive themselves at increased risk (OR = 0.17, 95% CI = 0.04-0.73). Safe-guards were perceived as important to protect genetic information, but there was also support for the storage and exchange of such information. Overall, respondents were in favour of genetic testing, even if current knowledge about melanoma risk genes is still limited. Contrary to previous studies, participants reported that a non-informative (negative) genetic test result, although not necessarily indicative of lower risk of melanoma, would be likely to reduce their practise of preventive behaviours. Conclusions: Participants were influenced by their phenotype and test results in risk estimations. They expressed positive views on genetic research and towards genetic testing, but reported that a non-informative (negative) test result might be associated with an (erroneous) perception of reduced risk and fewer preventive behaviours. These results highlight the urgency of improving the quality of genetic counselling and increasing the effectiveness of communication regarding genetic test results. (C) 2012 Elsevier Ltd. All rights reserved.
  •  
15.
  • Chang, Yu-mei, et al. (författare)
  • A pooled analysis of Melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes
  • 2009
  • Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 124:2, s. 420-428
  • Tidskriftsartikel (refereegranskat)abstract
    • An abnormal nevus phenotype is associated with an increased risk of melanoma. We report a pooled analysis conducted using individual nevus data from 15 case-control studies (5,421 melanoma cases and 6,966 controls). The aims were to quantify the risk better and to determine whether relative risk is varied by latitude. Bayesian unconditional logistic random coefficients models were employed to study the risk associated with nevus characteristics. Participants with whole body nevus counts in the highest of 4 population-based categories had a greatly increased risk of melanoma compared with those in the lowest category (pooled odds ratio (pOR) 6.9 (95% confidence interval (CI): 4.4, 1.1.2) for those aged <50 years and pOR 5.1 (95% CI: 3.6, 7.5) for those aged >= 50). The pOR for presence compared with absence of any clinically atypical nevi was 4.0 (95 % CI: 2.8, 5.8). The pORs for 1-2 and >= 3 large nevi on the body compared with none were 2.9 (95% CI: 1.9, 4.3) and 7.1 (95% CI: 4.7, 11.6), respectively. The relative heterogeneities among studies were small for most measures of nevus phenotype, except for the analysis of nevus counts on the arms, which may have been due to methodological differences among studies. The pooled analysis also suggested that an abnormal nevus phenotype is associated most with melanomas on intermittently sun-exposed sites. The presence of increased numbers of nevi, large nevi and clinically atypical nevi on the body are robust risk factors for melanoma showing little variation in relative risk among studies performed at different latitudes. (C) 2008 Wiley-Liss, Inc.
  •  
16.
  • Chang, Yu-mei, et al. (författare)
  • Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls
  • 2009
  • Ingår i: International Journal of Epidemiology. - : Oxford University Press (OUP). - 1464-3685 .- 0300-5771. ; 38:3, s. 814-830
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Melanoma risk is related to sun exposure; we have investigated risk variation by tumour site and latitude. Methods We performed a pooled analysis of 15 case-control studies (5700 melanoma cases and 7216 controls), correlating patterns of sun exposure, sunburn and solar keratoses (three studies) with melanoma risk. Pooled odds ratios (pORs) and 95% Bayesian confidence intervals (CIs) were estimated using Bayesian unconditional polytomous logistic random-coefficients models. Results Recreational sun exposure was a risk factor for melanoma on the trunk (pOR 1.7; 95% CI: 1.4-2.2) and limbs (pOR 1.4; 95% CI: 1.1-1.7), but not head and neck (pOR 1.1; 95% CI: 0.8-1.4), across latitudes. Occupational sun exposure was associated with risk of melanoma on the head and neck at low latitudes (pOR 1.7; 95% CI: 1.0-3.0). Total sun exposure was associated with increased risk of melanoma on the limbs at low latitudes (pOR 1.5; 95% CI: 1.0-2.2), but not at other body sites or other latitudes. The pORs for sunburn in childhood were 1.5 (95% CI: 1.3-1.7), 1.5 (95% CI: 1.3-1.7) and 1.4 (95% CI: 1.1-1.7) for melanoma on the trunk, limbs, and head and neck, respectively, showing little variation across latitudes. The presence of head and neck solar keratoses was associated with increased risk of melanoma on the head and neck (pOR 4.0; 95% CI: 1.7-9.1) and limbs (pOR 4.0; 95% CI: 1.9-8.4). Conclusion Melanoma risk at different body sites is associated with different amounts and patterns of sun exposure. Recreational sun exposure and sunburn are strong predictors of melanoma at all latitudes, whereas measures of occupational and total sun exposure appear to predict melanoma predominately at low latitudes. Keywords Melanoma, recreational sun exposure, occupational sun exposure, total sun exposure, sunburn, solar keratoses
  •  
17.
  • Davies, John R, et al. (författare)
  • Development and validation of a melanoma risk score based on pooled data from 16 case-control studies
  • 2015
  • Ingår i: Cancer Epidemiology Biomarkers & Prevention. - 1538-7755. ; 24:5, s. 24-817
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: We report the development of a cutaneous melanoma risk algorithm based upon seven factors; hair color, skin type, family history, freckling, nevus count, number of large nevi, and history of sunburn, intended to form the basis of a self-assessment Web tool for the general public.METHODS: Predicted odds of melanoma were estimated by analyzing a pooled dataset from 16 case-control studies using logistic random coefficients models. Risk categories were defined based on the distribution of the predicted odds in the controls from these studies. Imputation was used to estimate missing data in the pooled datasets. The 30th, 60th, and 90th centiles were used to distribute individuals into four risk groups for their age, sex, and geographic location. Cross-validation was used to test the robustness of the thresholds for each group by leaving out each study one by one. Performance of the model was assessed in an independent UK case-control study dataset.RESULTS: Cross-validation confirmed the robustness of the threshold estimates. Cases and controls were well discriminated in the independent dataset [area under the curve, 0.75; 95% confidence interval (CI), 0.73-0.78]. Twenty-nine percent of cases were in the highest risk group compared with 7% of controls, and 43% of controls were in the lowest risk group compared with 13% of cases.CONCLUSION: We have identified a composite score representing an estimate of relative risk and successfully validated this score in an independent dataset.IMPACT: This score may be a useful tool to inform members of the public about their melanoma risk.
  •  
18.
  • Dominguez-Escobar, Julia, et al. (författare)
  • Phylogenetic and molecular clock inferences of cyanobacterial strains within Rivulariaceae from distant environments
  • 2011
  • Ingår i: FEMS Microbiology Letters. - : Oxford University Press (OUP). - 0378-1097 .- 1574-6968. ; 316:2, s. 90-99
  • Tidskriftsartikel (refereegranskat)abstract
    • Heterocyst-forming cyanobacteria are important players at both evolutionary and ecological scales, but to date it has been difficult to establish their phylogenetic affiliations. We present data from a phylogenetic and molecular clock analysis of heterocystous cyanobacteria within the family Rivulariaceae, including the genera Calothrix, Rivularia, Gloeotrichia and Tolypothrix. The strains were isolated from distant geographic regions including fresh and brackish water bodies, microbial mats from beach rock, microbialites, pebble beaches, plus PCC strains 7103 and 7504. Phylogenetic inferences (distance, likelihood and Bayesian) suggested the monophyly of genera Calothrix and Rivularia. Molecular clock estimates indicate that Calothrix and Rivularia originated similar to 1500 million years ago (MYA) ago and species date back to 400-300 MYA while Tolypothrix and Gloeotrichia are younger genera (600-400 MYA).
  •  
19.
  • Enroth, Stefan, 1976-, et al. (författare)
  • Data-driven analysis of a validated risk score for ovarian cancer identifies clinically distinct patterns during follow-up and treatment
  • 2022
  • Ingår i: Communications Medicine. - : Springer Nature. - 2730-664X. ; 2:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundOvarian cancer is the eighth most common cancer among women and due to late detection prognosis is poor with an overall 5-year survival of 30–50%. Novel biomarkers are needed to reduce diagnostic surgery and enable detection of early-stage cancer by population screening. We have previously developed a risk score based on an 11-biomarker plasma protein assay to distinguish benign tumors (cysts) from malignant ovarian cancer in women with adnexal ovarian mass.MethodsProtein concentrations of 11 proteins were characterized in plasma from 1120 clinical samples with a custom version of the proximity extension assay. The performance of the assay was evaluated in terms of prediction accuracy based on receiver operating characteristics (ROC) and multiple hypothesis adjusted Fisher’s Exact tests on achieved sensitivity and specificity.ResultsThe assay’s performance is validated in two independent clinical cohorts with a sensitivity of 0.83/0.91 and specificity of 0.88/0.92. We also show that the risk score follows the clinical development and is reduced upon treatment, and increased with relapse and cancer progression. Data-driven modeling of the risk score patterns during a 2-year follow-up after diagnosis identifies four separate risk score trajectories linked to clinical development and survival. A Cox proportional hazard regression analysis of 5-year survival shows that at time of diagnosis the risk score is the second-strongest predictive variable for survival after tumor stage, whereas MUCIN-16 (CA-125) alone is not significantly predictive.ConclusionThe robust performance of the biomarker assay across clinical cohorts and the correlation with clinical development indicates its usefulness both in the diagnostic work-up of women with adnexal ovarian mass and for predicting their clinical course.
  •  
20.
  • Fanourgakis, George S., et al. (författare)
  • Evaluation of global simulations of aerosol particle and cloud condensation nuclei number, with implications for cloud droplet formation
  • 2019
  • Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 19:13, s. 8591-8617
  • Tidskriftsartikel (refereegranskat)abstract
    • A total of 16 global chemistry transport models and general circulation models have participated in this study; 14 models have been evaluated with regard to their ability to reproduce the near-surface observed number concentration of aerosol particles and cloud condensation nuclei (CCN), as well as derived cloud droplet number concentration (CDNC). Model results for the period 2011-2015 are compared with aerosol measurements (aerosol particle number, CCN and aerosol particle composition in the submicron fraction) from nine surface stations located in Europe and Japan. The evaluation focuses on the ability of models to simulate the average across time state in diverse environments and on the seasonal and short-term variability in the aerosol properties. There is no single model that systematically performs best across all environments represented by the observations. Models tend to underestimate the observed aerosol particle and CCN number concentrations, with average normalized mean bias (NMB) of all models and for all stations, where data are available, of -24% and -35% for particles with dry diameters >50 and >120nm, as well as -36% and -34% for CCN at supersaturations of 0.2% and 1.0%, respectively. However, they seem to behave differently for particles activating at very low supersaturations (<0.1%) than at higher ones. A total of 15 models have been used to produce ensemble annual median distributions of relevant parameters. The model diversity (defined as the ratio of standard deviation to mean) is up to about 3 for simulated N3 (number concentration of particles with dry diameters larger than 3nm) and up to about 1 for simulated CCN in the extra-polar regions. A global mean reduction of a factor of about 2 is found in the model diversity for CCN at a supersaturation of 0.2% (CCN0.2) compared to that for N3, maximizing over regions where new particle formation is important. An additional model has been used to investigate potential causes of model diversity in CCN and bias compared to the observations by performing a perturbed parameter ensemble (PPE) accounting for uncertainties in 26 aerosol-related model input parameters. This PPE suggests that biogenic secondary organic aerosol formation and the hygroscopic properties of the organic material are likely to be the major sources of CCN uncertainty in summer, with dry deposition and cloud processing being dominant in winter. Models capture the relative amplitude of the seasonal variability of the aerosol particle number concentration for all studied particle sizes with available observations (dry diameters larger than 50, 80 and 120nm). The short-term persistence time (on the order of a few days) of CCN concentrations, which is a measure of aerosol dynamic behavior in the models, is underestimated on average by the models by 40% during winter and 20% in summer. In contrast to the large spread in simulated aerosol particle and CCN number concentrations, the CDNC derived from simulated CCN spectra is less diverse and in better agreement with CDNC estimates consistently derived from the observations (average NMB -13% and -22% for updraft velocities 0.3 and 0.6ms-1, respectively). In addition, simulated CDNC is in slightly better agreement with observationally derived values at lower than at higher updraft velocities (index of agreement 0.64 vs. 0.65). The reduced spread of CDNC compared to that of CCN is attributed to the sublinear response of CDNC to aerosol particle number variations and the negative correlation between the sensitivities of CDNC to aerosol particle number concentration (Nd=Na) and to updraft velocity (Nd=w). Overall, we find that while CCN is controlled by both aerosol particle number and composition, CDNC is sensitive to CCN at low and moderate CCN concentrations and to the updraft velocity when CCN levels are high. Discrepancies are found in sensitivities Nd=Na and Nd=w; models may be predisposed to be too "aerosol sensitive" or "aerosol insensitive" in aerosol-cloud-climate interaction studies, even if they may capture average droplet numbers well. This is a subtle but profound finding that only the sensitivities can clearly reveal and may explain intermodel biases on the aerosol indirect effect.
  •  
21.
  • Fridberg, Marie, et al. (författare)
  • Modifying effect of gender on the prognostic value of clinicopathological factors and Ki67 expression in melanoma : a population-based cohort study
  • 2012
  • Ingår i: Biology of Sex Differences. - : Springer Science and Business Media LLC. - 2042-6410. ; 3, s. 1-10
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Malignant melanoma is the most deadly form of skin cancer. Female sex is known to have a protective effect on incidence, tumour characteristics, and mortality from melanoma. However, the potentially modifying effect of sex on the prognostic significance of clinicopathological and investigative factors is generally not taken into consideration in biomarker studies. In this study, we compared the sex-specific distribution and prognostic value of established tumour characteristics and Ki67 expression in 255 cases of incident primary melanoma in a prospective, population-based cohort study.METHODS: The study included 255 incident cases of melanoma, 132 females and 123 males, in the Malmö Diet and Cancer Study. Tumours from 226 (88.6%) cases had been assembled in tissue microarrays. Clinicopathological factors and immunohistochemical Ki67 expression were assessed and correlated with disease-free survival (DFS) and overall survival (OS) using Kaplan-Meier analysis, log rank test and univariable and multivariable Cox regression analyses, stratified for gender. Effect of gender on melanoma-specific survival (MSS) after first recurrence was also analysed.RESULTS: Women were significantly younger at diagnosis than men (p = 0.012). The most common tumour sites were the legs in women (37.5%) and the dorsal trunk in men (37.8%). Kaplan-Meier analysis revealed that tumour location had no prognostic impact in women, but in men, location to the frontal trunk was significantly associated with a reduced DFS compared with all other locations combined and location to the dorsal trunk was significantly associated with a prolonged OS. High Ki67 expression was significantly associated with a reduced DFS and OS in men but not in women, also when adjusted for other factors. In men, but not in women, ulceration was an independent prognostic factor for both DFS and OS. MSS after first local, regional or distant recurrence was significantly shorter for men than for women.CONCLUSIONS: The results from this study demonstrate that the prognostic value of tumour location, Ki67 expression and ulceration in melanoma differs according to gender. These findings need to be validated in future studies, as they may help improve prognostication in patients with melanoma. Moreover, our findings demonstrate that sex-stratified analyses add valuable information to biomarker studies.
  •  
22.
  • Gao, Yu, et al. (författare)
  • Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination
  • 2022
  • Ingår i: Immunity. - : Elsevier. - 1074-7613 .- 1097-4180. ; 55:9, s. 1732-1746.e5
  • Tidskriftsartikel (refereegranskat)abstract
    • Many immunocompromised patients mount suboptimal humoral immunity after SARS-CoV-2 mRNA vaccination. Here, we assessed the single-cell profile of SARS-CoV-2-specific T cells post-mRNA vaccination in healthy individuals and patients with various forms of immunodeficiencies. Impaired vaccine-induced cell-mediated immunity was observed in many immunocompromised patients, particularly in solid-organ transplant and chronic lymphocytic leukemia patients. Notably, individuals with an inherited lack of mature B cells, i.e., X-linked agammaglobulinemia (XLA) displayed highly functional spike-specific T cell responses. Single-cell RNA-sequencing further revealed that mRNA vaccination induced a broad functional spectrum of spike-specific CD4+ and CD8+ T cells in healthy individuals and patients with XLA. These responses were founded on polyclonal repertoires of CD4+ T cells and robust expansions of oligoclonal effector-memory CD45RA+ CD8+ T cells with stem-like characteristics. Collectively, our data provide the functional continuum of SARS-CoV-2-specific T cell responses post-mRNA vaccination, highlighting that cell-mediated immunity is of variable functional quality across immunodeficiency syndromes.
  •  
23.
  • Gaulton, Kyle J, et al. (författare)
  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
  • 2015
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:12, s. 1415-1415
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
  •  
24.
  • Goldstein, Alisa M, et al. (författare)
  • Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
  • 2007
  • Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 44:2, s. 99-106
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer. METHODS: These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents. RESULTS: Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, > or =2 patients with MPM, median age at melanoma diagnosis < or =40 years and > or =6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only > or =1 patient with MPM and age at diagnosis < or =40 years simultaneously predicted the mutation risk. CONCLUSIONS: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.
  •  
25.
  • Gremel, Gabriela, et al. (författare)
  • A systematic analysis of commonly used antibodies in cancer diagnostics
  • 2014
  • Ingår i: Histopathology. - : Wiley. - 0309-0167 .- 1365-2559. ; 64:2, s. 293-305
  • Tidskriftsartikel (refereegranskat)abstract
    • AimsImmunohistochemistry plays a pivotal role in cancer differential diagnostics. To identify the primary tumour from a metastasis specimen remains a significant challenge, despite the availability of an increasing number of antibodies. The aim of the present study was to provide evidence-based data on the diagnostic power of antibodies used frequently for clinical differential diagnostics. Methods and resultsA tissue microarray cohort comprising 940 tumour samples, of which 502 were metastatic lesions, representing tumours from 18 different organs and four non-localized cancer types, was analysed using immunohistochemistry with 27 well-established antibodies used in clinical differential diagnostics. Few antibodies, e.g. prostate-specific antigen and thyroglobulin, showed a cancer type-related sensitivity and specificity of more than 95%. A majority of the antibodies showed a low degree of sensitivity and specificity for defined cancer types. Combinations of antibodies provided limited added value for differential diagnostics of cancer types. ConclusionsThe results from analysing 27 diagnostic antibodies on consecutive sections of 940 defined tumours provide a unique repository of data that can empower a more optimal use of clinical immunohistochemistry. Our results highlight the benefit of immunohistochemistry and the unmet need for novel markers to improve differential diagnostics of cancer.
  •  
26.
  • Gremel, Gabriela, et al. (författare)
  • A systematic search strategy identifies cubilin as independent prognostic marker for renal cell carcinoma
  • 2017
  • Ingår i: BMC Cancer. - : Springer Science and Business Media LLC. - 1471-2407. ; 17
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: There is an unmet clinical need for better prognostic and diagnostic tools for renal cell carcinoma (RCC). Methods: Human Protein Atlas data resources, including the transcriptomes and proteomes of normal and malignant human tissues, were searched for RCC-specific proteins and cubilin (CUBN) identified as a candidate. Patient tissue representing various cancer types was constructed into a tissue microarray (n = 940) and immunohistochemistry used to investigate the specificity of CUBN expression in RCC as compared to other cancers. Two independent RCC cohorts (n = 181; n = 114) were analyzed to further establish the sensitivity of CUBN as RCC-specific marker and to explore if the fraction of RCCs lacking CUBN expression could predict differences in patient survival. Results: CUBN was identified as highly RCC-specific protein with 58% of all primary RCCs staining positive for CUBN using immunohistochemistry. In venous tumor thrombi and metastatic lesions, the frequency of CUBN expression was increasingly lost. Clear cell RCC (ccRCC) patients with CUBN positive tumors had a significantly better prognosis compared to patients with CUBN negative tumors, independent of T-stage, Fuhrman grade and nodal status (HR 0.382, CI 0.203-0.719, P = 0.003). Conclusions: CUBN expression is highly specific to RCC and loss of the protein is significantly and independently associated with poor prognosis. CUBN expression in ccRCC provides a promising positive prognostic indicator for patients with ccRCC. The high specificity of CUBN expression in RCC also suggests a role as a new diagnostic marker in clinical cancer differential diagnostics to confirm or rule out RCC.
  •  
27.
  •  
28.
  • Humbert, Marion, et al. (författare)
  • Functional SARS-CoV-2 cross-reactive CD4+ T cells established in early childhood decline with age
  • 2023
  • Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 120:12
  • Tidskriftsartikel (refereegranskat)abstract
    • Pre-existing SARS-CoV-2-reactive T cells have been identified in SARS-CoV-2-unexposed individuals, potentially modulating COVID-19 and vaccination outcomes. Here, we provide evidence that functional cross-reactive memory CD4+ T cell immunity against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is established in early childhood, mirroring early seroconversion with seasonal human coronavirus OC43. Humoral and cellular immune responses against OC43 and SARS-CoV-2 were assessed in SARS-CoV-2-unexposed children (paired samples at age two and six) and adults (age 26 to 83). Pre-existing SARS-CoV-2-reactive CD4+ T cell responses targeting spike, nucleocapsid, and membrane were closely linked to the frequency of OC43-specific memory CD4+ T cells in childhood. The functional quality of the cross-reactive memory CD4+ T cell responses targeting SARS-CoV-2 spike, but not nucleocapsid, paralleled OC43-specific T cell responses. OC43-specific antibodies were prevalent already at age two. However, they did not increase further with age, contrasting with the antibody magnitudes against HKU1 (β-coronavirus), 229E and NL63 (α-coronaviruses), rhinovirus, Epstein–Barr virus (EBV), and influenza virus, which increased after age two. The quality of the memory CD4+ T cell responses peaked at age six and subsequently declined with age, with diminished expression of interferon (IFN)-γ, interleukin (IL)-2, tumor necrosis factor (TNF), and CD38 in late adulthood. Age-dependent qualitative differences in the pre-existing SARS-CoV-2-reactive T cell responses may reflect the ability of the host to control coronavirus infections and respond to vaccination. Copyright © 2023 the Author(s).
  •  
29.
  • Iles, Mark M., et al. (författare)
  • A variant in FTO shows association with melanoma risk not due to BMI
  • 2013
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:4, s. 428-432
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 x 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanomasusceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.
  •  
30.
  • Jonsson, Liv, et al. (författare)
  • Low RBM3 protein expression correlates with tumour progression and poor prognosis in malignant melanoma : An analysis of 215 cases from the Malmo Diet and Cancer Study
  • 2011
  • Ingår i: Journal of Translational Medicine. - : Springer Science and Business Media LLC. - 1479-5876. ; 9, s. 114-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: We have previously reported that expression of the RNA-and DNA-binding protein RBM3 is associated with a good prognosis in breast cancer and ovarian cancer. In this study, the prognostic value of immunohistochemical RBM3 expression was assessed in incident cases of malignant melanoma from a prospective population-based cohort study. Methods: Until Dec 31(st) 2008, 264 incident cases of primary invasive melanoma had been registered in the Malmo Diet and Cancer Study. Histopathological and clinical information was obtained for available cases and tissue microarrays (TMAs) constructed from 226 (85.6%) suitable paraffin-embedded tumours and 31 metastases. RBM3 expression was analysed by immunohistochemistry on the TMAs and a subset of full-face sections. Chi-square and Mann-Whitney U tests were used for comparison of RBM3 expression and relevant clinicopathological characteristics. Kaplan Meier analysis and Cox proportional hazards modelling were used to assess the relationship between RBM3 and recurrence free survival (RFS) and overall survival (OS). Results: RBM3 could be assessed in 215/226 (95.1%) of primary tumours and all metastases. Longitudinal analysis revealed that 16/31 (51.6%) of metastases lacked RBM3 expression, in contrast to the primary tumours in which RBM3 was absent in 3/215 (1.4%) cases and strongly expressed in 120/215 (55.8%) cases. Strong nuclear RBM3 expression in the primary tumour was significantly associated with favourable clinicopathological parameters; i. e. non-ulcerated tumours, lower depth of invasion, lower Clark level, less advanced clinical stage, low mitotic activity and non-nodular histological type, and a prolonged RFS (RR = 0.50; 95% CI = 0.27-0.91) and OS (RR = 0.36, 95% CI = 0.20-0.64). Multivariate analysis demonstrated that the beneficial prognostic value of RBM3 remained significant for OS (RR = 0.33; 95% CI = 0.18-0.61). Conclusions: In line with previous in vitro data, we here show that RBM3 is down-regulated in metastatic melanoma and high nuclear RBM3 expression in the primary tumour is an independent marker of a prolonged OS. The potential utility of RBM3 in treatment stratification of patients with melanoma should be pursued in future studies.
  •  
31.
  • Kampf, Caroline, et al. (författare)
  • A tool to facilitate clinical biomarker studies - a tissue dictionary based on the Human Protein Atlas
  • 2012
  • Ingår i: BMC Medicine. - : Springer Science and Business Media LLC. - 1741-7015. ; 10, s. 103-
  • Tidskriftsartikel (refereegranskat)abstract
    • The complexity of tissue and the alterations that distinguish normal from cancer remain a challenge for translating results from tumor biological studies into clinical medicine. This has generated an unmet need to exploit the findings from studies based on cell lines and model organisms to develop, validate and clinically apply novel diagnostic, prognostic and treatment predictive markers. As one step to meet this challenge, the Human Protein Atlas project has been set up to produce antibodies towards human protein targets corresponding to all human protein coding genes and to map protein expression in normal human tissues, cancer and cells. Here, we present a dictionary based on microscopy images created as an amendment to the Human Protein Atlas. The aim of the dictionary is to facilitate the interpretation and use of the image-based data available in the Human Protein Atlas, but also to serve as a tool for training and understanding tissue histology, pathology and cell biology. The dictionary contains three main parts, normal tissues, cancer tissues and cells, and is based on high-resolution images at different magnifications of full tissue sections stained with H & E. The cell atlas is centered on immunofluorescence and confocal microscopy images, using different color channels to highlight the organelle structure of a cell. Here, we explain how this dictionary can be used as a tool to aid clinicians and scientists in understanding the use of tissue histology and cancer pathology in diagnostics and biomarker studies.
  •  
32.
  • Lagou, Vasiliki, et al. (författare)
  • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
  • 2021
  • Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 12:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.
  •  
33.
  • Leachman, Sancy A., et al. (författare)
  • Selection criteria for genetic assessment of patients with familial melanoma
  • 2009
  • Ingår i: Journal of American Academy of Dermatology. - : Elsevier BV. - 0190-9622. ; 61:4, s. 677-684
  • 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.)
  •  
34.
  • Malmborg, Julia, PhD, 1988-, et al. (författare)
  • Associations between pain, health, and lifestyle factors in 10-year-old boys and girls from a Swedish birth cohort
  • 2023
  • Ingår i: BMC Pediatrics. - London : BioMed Central (BMC). - 1471-2431. ; 23:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundPain is common in children and its associations with various biopsychosocial factors is complex. Comprehensive pain assessments could contribute to a better understanding of pediatric pain, but these assessments are scarce in literature. The aim of this study was to examine differences in pain prevalence and pain patterns in 10-year-old boys and girls from a Swedish birth cohort and to study associations between pain, health-related quality of life and various lifestyle factors stratified by sex.Methods866 children (426 boys and 440 girls) and their parents from the "Halland Health and Growth Study" participated in this cross-sectional study. Children were categorized into two pain groups, "infrequent pain" (never-monthly pain) or "frequent pain" (weekly-almost daily pain), based on a pain mannequin. Univariate logistic regression analyses, stratified by sex, were performed to study associations between frequent pain and children's self-reports of disease and disability and health-related quality of life (Kidscreen-27, five domains), and parents' reports of their child's sleep (quality and duration), physical activity time, sedentary time, and participation in organized physical activities.ResultsThe prevalence of frequent pain was 36.5% with no difference between boys and girls (p = 0.442). Boys with a longstanding disease or disability had higher odds of being in the frequent pain group (OR 2.167, 95% CI 1.168-4.020). Higher scores on health-related quality of life in all five domains for girls, and in two domains for boys, was associated with lower odds of being categorized into the frequent pain group. Frequent pain was associated with poor sleep quality (boys OR 2.533, 95% CI 1.243-5.162; girls OR 2.803, 95% CI 1.276-6.158) and more sedentary time (boys weekends OR 1.131, 95% CI 1.022-1.253; girls weekdays OR 1.137, 95% CI 1.032-1.253), but not with physical activity.ConclusionsThe high prevalence of frequent pain needs to be acknowledged and treated by school health-care services and the healthcare sector in order to prevent pain from influencing health and lifestyle factors negatively in children.
  •  
35.
  • Malmborg, Julia, 1988-, et al. (författare)
  • Daily Musculoskeletal Pain Affects Health And Sports Performance Negatively In Youth Athletes
  • 2017
  • Ingår i: Medicine & Science in Sports & Exercise. - Philadelphia, PA : Lippincott Williams & Wilkins. - 0195-9131 .- 1530-0315. ; 49, s. 972-972
  • Tidskriftsartikel (refereegranskat)abstract
    • In sports, musculoskeletal pain (MSP) is often studied from the perspective of sport specific injuries, why little is known about the prevalence of daily or multisite MSP that does not affect participation in sports. It is also unclear if daily or multisite MSP is a risk factor for worse health-related quality of life (HRQoL) and worse sports performance in youth athletes.PURPOSE: To study how HRQoL and sports performance is affected by daily MSP in youth athletes that are able to participate in sports.METHODS: 136 Swedish youth athletes attending a sport school (13 to 14 years, boys n=83, girls n=53) completed the EQ-5D measuring HRQoL (range 0 to 1, worst to best), a pain questionnaire including current pain (yes/no), pain in 18 body regions (never to rarely/monthly to weekly/more than once a week to almost daily), and pain intensity in the last week (0 to 10, best to worst), anthropometric measures to estimate biological age, and sports performance tests (grip strength, 20 meter sprint, and countermovement jump(CMJ)).RESULTS: 109 to 117 of the 136 students answered the different pain questions. 53 of 113 (47%) reported current MSP, and 28 of 109 (26%) experienced MSP ‘more than once a week to almost daily’ from one or more body regions (frequent MSP group), while 28% (n=30) stated ‘never to rarely’ in MSP (no MSP group). Boys in the frequent MSP group reported worse HRQoL, higher pain intensity, performed worse in all sports performance tests, and had a younger biological age than boys in the no MSP group. Girls in the frequent MSP group reported worse HRQoL and higher pain intensity than the girls in the no MSP group. No other differences were found (table).CONCLUSIONS: Every other youth athlete attending a sport school reported current MSP and one out of four reported almost daily MSP. MSP affects HRQoL negatively in both boys and girls, and sports performance negatively in boys. The prevalence of MSP in youth athletes is concerning since pain in younger ages may predict pain in adult ages.© 2017 American College of Sports Medicine
  •  
36.
  • Malmborg, Julia, 1988-, et al. (författare)
  • Health status, physical activity, and orthorexia nervosa : A comparison between exercise science students and business students
  • 2017
  • Ingår i: Appetite. - Amsterdam : Elsevier. - 0195-6663 .- 1095-8304. ; 109, s. 137-143
  • Tidskriftsartikel (refereegranskat)abstract
    • Orthorexia nervosa is described as an exaggerated fixation on healthy food. It is unclear whether students in health-oriented academic programs, highly focused on physical exercise, are more prone to develop orthorexia nervosa than students in other educational areas. The aim was to compare health status, physical activity, and frequency of orthorexia nervosa between university students enrolled in an exercise science program (n = 118) or a business program (n = 89). The students completed the Short Form-36 Health Survey (SF-36), the International Physical Activity Questionnaire (IPAQ), and ORTO-15, which defines orthorexia nervosa as a sensitive and obsessive behavior towards healthy nutrition. The SF-36 showed that exercise science students scored worse than business students regarding bodily pain (72.8 vs. 82.5; p = 0.001), but better regarding general health (83.1 vs. 77.1; p = 0.006). Of 188 students, 144 (76.6%) had an ORTO-15 score indicating orthorexia nervosa, with a higher proportion in exercise science students than in business students (84.5% vs. 65.4%; p = 0.002). Orthorexia nervosa in combination with a high level of physical activity was most often seen in men in exercise science studies and less often in women in business studies (45.1% vs. 8.3%; p < 0.000). A high degree of self-reporting of pain and orthorexia nervosa in exercise science students may cause problems in the future, since they are expected to coach others in healthy living. Our findings may be valuable in the development of health-oriented academic programs and within student healthcare services. © 2016 Elsevier Ltd
  •  
37.
  •  
38.
  • Malmborg, Julia, 1988-, et al. (författare)
  • Orthorexic Eating Behavior in Relation to Health Status and Physical Activity : A Comparison Between Students in Two University Programs
  • 2015
  • Ingår i: Book of Abstracts of the 20<sup>th</sup> Annual Congress of the European College of Sport Science - 24<sup>th</sup> - 27<sup>th</sup> June 2015, Malmö - Sweden. - Cologne : SporTools. - 9789171045676 ; , s. 497-498
  • Konferensbidrag (refereegranskat)abstract
    • BackgroundOrthorexia nervosa (ON) is a condition described as ‘unhealthy’ behaviors regarding diet and physical activity. There is an ongoing discussion if ON is more common among adolescents studying in the area of health care and exercise. The research on ON is scarce and few studies assess ON and its association to health related quality of life (HRQoL).AimThe aim was to study orthorexic eating behavior, levels of physical activity and HRQoL in students enrolled at university programs focusing on health and exercise compared to those enrolled in business programs.Method128 subjects, 32 men and 38 women from Biomedicine – Athletic Training (Biomedicine) and 22 men and 36 women from Construction and Real Estate Business (Business) participated in this cross-sectional study. The subjects completed the Short Form-36 Health Survey (SF-36) to measure HRQoL, the International Physical Activity Questionnaire (IPAQ) to measure levels of physical activity and ORTO-15 which examines eating behavior. A score less than 40 on ORTO-15 (score ranging from 0-60, worst to best) indicated an unhealthy relation to diet and was considered as ON in this study (Donini et al., 2005). Differences between groups were analyzed with t-tests and chi-square test.ResultsA total of 105 out of 128 (82%) subjects had a score indicating ON. Students from Biomedicine had a higher frequency of ON in comparison to Business (p < 0.000) and in the SF-36 subscale bodily pain, Biomedicine students reported a higher frequency of pain (p = 0.006). Results from measurements of physical activity did not differ significantly between Biomedicine and Business students, but there was a trend for high-intensity physical activity to occur more frequently in men than in women in general (p = 0.014).ConclusionON is a common condition in university students and even more frequent in students enrolled in a program directed towards health and nutrition. The high frequency of ON seen in Biomedicine students could be a problem that needs to be addressed since the students, after graduation, are expected to coach other people to a healthy living. Further studies are needed to explore associations with ON to health and physical activity. There is also a need to develop valid and reliable instruments for assessing the condition.
  •  
39.
  •  
40.
  • Malmborg, Julia, PhD, 1988-, et al. (författare)
  • Pain and its association with health-related quality of life, sleep, physical activity, and sedentary behavior in 10-year-old children from a Swedish birth cohort
  • 2022
  • Ingår i: Annals of the Rheumatic Diseases. - London : BMJ Publishing Group Ltd. - 0003-4967 .- 1468-2060. ; 81:Suppl. 1, s. 988-988
  • Tidskriftsartikel (refereegranskat)abstract
    • Pain in children may be underreported and undertreated today, but due to methodological variations, pain prevalence is difficult to determine. Moreover, it is unclear to what extent pediatric pain is associated with health-related quality of life (HRQoL) and other lifestyle habits. There is a need for an increased understanding of pain in children.ObjectivesTo study pain prevalence and cross-sectional associations between pain, HRQoL, sleep, physical activity, and sedentary behavior in 10-year-old children from a Swedish birth cohort.MethodsThe Swedish birth cohort the “Halland Health and Growth Study” (H2GS) recruited 2860 children at birth (2007–2009). At 10 years of age the children answered questionnaires regarding pain (mannequin with 20 regions, frequency never–daily for each region) and HRQoL (Kidscreen-27, 27 questions, 5 domains scored worst–best). Parents estimated their child’s sleep (6–8, 9, or 10–12 hours/night), physical activity time, and sedentary time (hours/weekdays and hours/weekends respectively). Children were categorized into the groups of “infrequent pain” (never–monthly pain) or “frequent pain” (weekly–almost daily pain) from the highest reported pain frequency from at least one body region. Differences in pain prevalence between boys and girls were analyzed with chi2-test. Logistic regression analyses were performed to study associations between frequent pain (dependent variable) and HRQoL, sleep, physical activity, and sedentary behavior (independent variables). Each variable was adjusted for sex.Results733 children (351 boys and 382 girls) answered pain and HRQoL questions at 10 years of age. Frequent pain was reported by 37% (boys 35% vs. girls 39%, p=0.267). The number of frequent pain regions ranged from 1–13 in boys and 1–20 in girls. Higher HRQoL in the domains physical wellbeing (OR 0.965; 95%CI 0.948–0.983; p<0.001), psychological wellbeing (OR 0.971; 95%CI 0.955–0.987; p<0.001), autonomy and parents (OR 0.971; 95%CI 0.954–0.988; p=0.001), peers and social support (OR 0.977; 95%CI 0.961–0.994; p=0.007), and school environment (OR 0.972; 95%CI 0.956–0.989; p=0.002) was associated with less risk of belonging to the frequent pain group. More sedentary time in weekdays (OR 1.107; 95%CI 1.028–1.192; p=0.007) and weekends (OR 1.122; 95%CI 1.037–1.215; p=0.004) was associated with having frequent pain, but no associations were found between frequent pain and the amount of physical activity or sleep.ConclusionThe high prevalence of frequent pain in 10-year-old children must receive attention by the school and health-care services. The association between frequent pain and low HRQoL is troublesome. Improving HRQoL and reducing sedentary time is beneficial for children’s health, but further studies are needed to follow associations over time.Disclosure of InterestsNone declared
  •  
41.
  • Malmborg, Julia, 1988-, et al. (författare)
  • Risk Factors for Persistence and Development of Frequent Musculoskeletal Pain in Adolescent Athletes
  • 2020
  • Ingår i: Annals of the Rheumatic Diseases. - London : BMJ Publishing Group Ltd. - 0003-4967 .- 1468-2060. ; 79:Suppl 1, s. 206-206
  • Tidskriftsartikel (refereegranskat)abstract
    • Physical activity has a positive impact on health, but adolescent athletes often report musculoskeletal pain (MP) which is negative in the aspect of sustaining physical activity over time. There is a lack of longitudinal assessments of MP and potential risk factors, such as timing of physical maturation, in adolescent athletes.Objectives:To identify risk factors associated with the persistence or development of frequent MP at a 2-year follow-up in adolescent sport school students.Methods:Fourteen-year-old sport school students (n=233) were invited to participate in this 2-year longitudinal study. Self-reports of MP was assessed as frequency, distribution, and intensity, and health status by EQ-5D. Physical maturation was calculated by the Mirwald equation (height, weight, and sitting height) (1), and categorized as early (>1 year), average (±1 year), or late (<–1 year). Students were grouped at baseline and follow-up into infrequent (never to monthly) or frequent (weekly to daily) MP groups. Logistic regression analysis was used to study associations between frequent MP at follow-up and baseline variables.Results:131 students (79 boys and 52 girls) were included in the study. Development or persistence of frequent MP at follow-up (n=61) was associated with being a girl, late physical maturation (only boys were categorized as late), non-contact sports participation, frequent MP at baseline, and reporting ≥2 MP sites at baseline. Students with a better health status at baseline were less likely to belong to the frequent MP group at follow-up (Table).Conclusion:Frequent MP is common in sport school students. MP in young athletes may become a future health problem and there is a need for recognition and interventions by coaches and health services to prevent MP from becoming persistent.References:[1]Mirwald, R. L., Baxter-Jones, A. D., Bailey, D. A., & Beunen, G. P. (2002). An assessment of maturity from anthropometric measurements.Med Sci Sports Exerc, 34(4), 689-694.Table.Associations between background variables at baseline and frequent MP at follow-up based on crude logistic regression analysis controlling each variable for sex.Baseline variablesModelInfrequent MP vs. Frequent MPOR(95% CI; p-value)SexBoys1.00Girls2.76(1.34–5.68; p<0.01)Physical maturationAverage (±1 year)1.00Early (>1 year)0.41(0.05–3.65; p=0.42)Late (<–1 year)3.83(1.13–12.95; p=0.03)Sport categoriesContact1.00Non-contact5.16(2.07–12.88; p<0.001)MP groupsInfrequent1.00Frequent2.74(1.31–5.72; p<0.01)MP intensity last week (NRS 0–10, best to worst)1.15(0.98–1.35; p=0.10)Number of MP sites01.0012.32(0.71–7.58; p=0.16)≥22.87(1.32–6.25; p<0.01)EQ-5D (0.00–1.00, worst to best)0.03(0.001–0.58; p=0.02)Disclosure of Interests:None declared
  •  
42.
  • Malmborg, Julia S., 1988-, et al. (författare)
  • Musculoskeletal pain and its association with health status, maturity, and sports performance in adolescent sport school students: a 2-year follow-up
  • 2022
  • Ingår i: Bmc Sports Science Medicine and Rehabilitation. - London : Springer Science and Business Media LLC. - 2052-1847. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Musculoskeletal pain and its risk factors are rarely assessed in studies on adolescent athletes. The aim was to identify risk factors at baseline that were associated with the persistence or development of musculoskeletal pain at a two-year follow-up in adolescent sport school students, and to study cross-sectional associations at follow-up between musculoskeletal pain and sports performance. Methods Sport school students (79 boys and 52 girls, aged 14 years at baseline) were divided into infrequent (never-monthly) or frequent (weekly-almost daily) pain groups, based on frequency of pain using a pain mannequin. Logistic regression analyses were performed to study longitudinal associations between frequent pain at follow-up and baseline variables: pain group, number of regions with frequent pain, health status by EQ-5D, maturity offset (pre, average, or post peak height velocity), and sports (contact or non-contact). Linear regression analyses were used to study cross-sectional associations between pain groups and 20-m sprint, agility T-test, counter-movement jump, and grip strength at follow-up. Results were stratified by sex. Results A higher percentage of girls than boys reported frequent pain at follow-up (62% vs. 37%; p = 0.005). In boys, frequent pain at follow-up was associated with being pre peak height velocity at baseline (OR 3.884, CI 1.146-13.171; p = 0.029) and participating in non-contact sports (OR 3.429, CI 1.001-11.748; p = 0.050). In girls, frequent pain at follow-up was associated with having frequent pain in two or more body regions at baseline (OR 3.600, CI 1.033-12.542; p = 0.044), having a worse health status at baseline (OR 3.571, CI 1.026-12.434; p = 0.045), and participating in non-contact sports (OR 8.282, CI 2.011-34.116; p = 0.003). In boys, frequent pain was associated with worse performances in 20-m sprint and counter-movement jump, but not in agility T-test and grip strength. Conclusions Baseline risk factors for having frequent pain at follow-up were late maturation in boys, frequent pain and worse health status in girls, and participation in non-contact sports in both sexes. Boys with pain performed worse in sports tests. Coaches and school health-care services should pay attention to the risk factors and work towards preventing pain from becoming persistent.
  •  
43.
  • Malmborg, Julia S, 1988-, et al. (författare)
  • Musculoskeletal pain and its association with maturity and sports performance in 14-year-old sport school students
  • 2018
  • Ingår i: BMJ Open Sport & Exercise Medicine. - London : BMJ. - 2055-7647. ; 4:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives In youth sports, musculoskeletal pain is often studied from the standpoint of sports injuries, but little is known about pain conditions in which athletes still participate. The aim was to study the frequency of pain and associations with maturity offset, health status and sports performance in 14-year-old sport school students. Methods Cross-sectional design. One hundred and seventy-eight students (108 boys and 70 girls) completed anthropometric measures for maturity offset (height, weight and sitting height), questionnaires (pain mannequin and EQ-5D for health status) and sports performance tests (sprint, agility, counter-movement jump and grip strength). Differences between groups were analysed with Student's t-test and analysis of covariance. Results Thirty-one students (18.6%) reported infrequent pain, 85 (50.9%) frequent pain and 51 (30.5%) constant pain. Students in the constant pain group had worse health status than those in the infrequent pain group. Boys with constant pain (n=27) had a lower mean maturity offset (-0.38 vs 0.07 years; p=0.03) than boys with infrequent pain (n=22), and pain was associated with worse sports performance. There was no difference in maturity or sports performance between girls with constant pain (n=24) and girls with infrequent pain (n=9). Conclusion Musculoskeletal pain is common in sport school students and coincides with worse health status and with a younger biological age in boys. The high prevalence of pain should be acknowledged by coaches and student healthcare workers in order to promote a healthy and sustainable development in young athletes.
  •  
44.
  •  
45.
  • Meyer, Antoine, et al. (författare)
  • Dietary index based on the Food Standards Agency nutrient profiling system and risk of Crohn's disease and ulcerative colitis
  • 2024
  • Ingår i: Alimentary Pharmacology and Therapeutics. - : John Wiley & Sons. - 0269-2813 .- 1365-2036. ; 59:4, s. 558-568
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Nutri-score is now widely available in food packages in Europe.Aim: To study the overall nutritional quality of the diet in relation to risks of Crohn's disease (CD) and ulcerative colitis (UC), in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.Methods: We collected dietary data at baseline from validated food frequency questionnaires. We used a dietary index based on the UK Food Standards Agency modified nutrient profiling system (FSAm-NPS-DI) underlying the Nutri-Score label, to measure the nutritional quality of the diet. We estimated the association between FSAm-NPS-DI score, and CD and UC risks using Cox models stratified by centre, sex and age; and adjusted for smoking status, BMI, physical activity, energy intake, educational level and alcohol intake.Results: We included 394,255 participants (68.1% women; mean age at recruitment 52.1 years). After a mean follow-up of 13.6 years, there were 184 incident cases of CD and 459 incident cases of UC. Risk of CD was higher in those with a lower nutritional quality, that is higher FSAm-NPS-DI Score (fourth vs. first quartile: aHR: 2.04, 95% CI: 1.24–3.36; p-trend: <0.01). Among items of the FSAm-NPS-DI Score, low intakes of dietary fibre and fruits/vegetables/legumes/nuts were associated with higher risk of CD. Nutritional quality was not associated with risk of UC (fourth vs. first quartile of the FSAm-NPS-DI Score: aHR: 0.91, 95% CI: 0.69–1.21; p-trend: 0.76).Conclusions: A diet with low nutritional quality as measured by the FSAm-NPS-DI Score is associated with a higher risk of CD but not UC.
  •  
46.
  • Meyer, Esther, et al. (författare)
  • Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
  • 2017
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49, s. 223-237
  • Tidskriftsartikel (refereegranskat)abstract
    • Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
  •  
47.
  • Müller, Thomas R., et al. (författare)
  • Additive effects of booster mRNA vaccination and SARS-CoV-2 Omicron infection on T cell immunity across immunocompromised states
  • 2023
  • Ingår i: Science Translational Medicine. - 1946-6234 .- 1946-6242. ; 15:704, s. eadg9452-
  • Tidskriftsartikel (refereegranskat)abstract
    • Suboptimal immunity to SARS-CoV-2 mRNA vaccination has frequently been observed in individuals with various immunodeficiencies. Given the increased antibody evasion properties of emerging SARS-CoV-2 subvariants, it is necessary to assess whether other components of adaptive immunity generate resilient and protective responses against infection. We assessed T cell responses in 279 individuals, covering five different immunodeficiencies and healthy controls, before and after booster mRNA vaccination, as well as after Omicron infection in a subset of patients. We observed robust and persistent Omicron-reactive T cell responses that increased markedly upon booster vaccination and correlated directly with antibody titers across all patient groups. Poor vaccination responsiveness in immunocompromised or elderly individuals was effectively counteracted by the administration of additional vaccine doses. Functionally, Omicron-reactive T cell responses exhibited a pronounced cytotoxic profile and signs of longevity, characterized by CD45RA+ effector memory subpopulations with stem cell-like properties and increased proliferative capacity. Regardless of underlying immunodeficiency, booster-vaccinated and Omicron-infected individuals appeared protected against severe disease and exhibited enhanced and diversified T cell responses against conserved and Omicron-specific epitopes. Our findings indicate that T cells retain the ability to generate highly functional responses against newly emerging variants, even after repeated antigen exposure and a robust immunological imprint from ancestral SARS-CoV-2 mRNA vaccination.
  •  
48.
  • Newton Bishop, Julia A., et al. (författare)
  • Teaching non-specialist health care professionals how to identify the atypical mole syndrome phenotype : a multinational study
  • 2000
  • Ingår i: British Journal of Dermatology. - : Oxford University Press (OUP). - 0007-0963 .- 1365-2133. ; 142:2, s. 331-337
  • Tidskriftsartikel (refereegranskat)abstract
    • The atypical mole syndrome (AMS) phenotype is the strongest known risk factor for cutaneous melanoma but recognition of the phenotype has been claimed to be problematic and to require specialist assessment. This study determined the ability of previously unskilled doctors and nurses in five countries to recognize the phenotype after brief training. The system used was the AMS scoring system. This incorporates melanocytic naevus counts, clinical atypia of naevi and distribution of naevi. The agreement in scoring between the dermatologist and trained personnel was determined in 986 patients; overall agreement in diagnosis was 94·5% (kappa 0·70, P < 0·0001). The kappa scores in different countries ranged from 0·65 to 0·77 for individual naevus characteristics, indicative of good agreement. Accurate diagnosis of the atypical mole syndrome phenotype is possible by non-specialists. This has implications for collaborative studies of naevi, for screening and for both primary and secondary prevention of melanoma.
  •  
49.
  • Nodin, Björn, et al. (författare)
  • High MCM3 expression is an independent biomarker of poor prognosis and correlates with reduced RBM3 expression in a prospective cohort of malignant melanoma
  • 2012
  • Ingår i: Diagnostic Pathology. - : Springer Science and Business Media LLC. - 1746-1596. ; 7:1, s. 82-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Malignant melanoma is the most lethal form of skin cancer with a variable clinical course even in patients with thin melanomas and localized disease. Despite increasing insights into melanoma biology, no prognostic biomarkers have yet been incorporated into clinical protocols. Reduced expression of the RNA binding motif protein 3 (RBM3) has been shown to correlate with tumour progression and poor prognosis in melanoma and several other cancer forms. In ovarian cancer, an inverse association was found between expression of RBM3 and the minichromosome maintenance 3 (MCM3) gene and protein. In melanoma, gene expression analysis and immunohistochemical validation has uncovered MCM3 as a putative prognostic biomarker. The aim of the present study was to examine the associations of MCM3 expression with clinical outcome and RBM3 expression in a prospective, population-based cohort of melanoma. Methods: Immunohistochemical MCM3 expression was examined in 224 incident cases of primary melanoma from the Malmo Diet and Cancer Study, previously analysed for RBM3 expression. Spearman's Rho and Chi-Square tests were used to explore correlations between MCM3 expression, clinicopathological factors, and expression of RBM3 and Ki67. Kaplan Meier analysis, the log rank test, and univariable and multivariable Cox proportional hazards modelling were used to assess the impact of MCM3 expression on disease-free survival (DFS) and melanoma-specific survival (MSS). Results: High MCM3 expression was significantly associated with unfavourable clinicopathological features and high Ki67 expression. A significant inverse correlation was seen between expression of MCM3 and RBM3 (p = 0.025). High MCM3 expression was associated with a reduced DFS (HR = 5.62) and MSS (HR = 6.03), and these associations remained significant in multivariable analysis, adjusted for all other factors (HR = 5.01 for DFS and HR = 4.96 for MSS). RBM3 expression remained an independent prognostic factor for MSS but not DFS in the multivariable model. Conclusions: These findings provide validation of the utility of MCM3 expression as an independent biomarker for prognostication of patients with primary melanoma. Moreover, the inverse association and prognostic impact of MCM3 and RBM3 expression indicate a possible interaction of these proteins in melanoma progression, the functional basis for which merits further study.
  •  
50.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-50 av 57
Typ av publikation
tidskriftsartikel (47)
konferensbidrag (5)
annan publikation (2)
doktorsavhandling (2)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (51)
övrigt vetenskapligt/konstnärligt (6)
Författare/redaktör
Bremander, Ann, 1957 ... (9)
Bergman, Stefan, 195 ... (9)
Olsson, Håkan (8)
Pontén, Fredrik (8)
Bishop, D Timothy (7)
Uhlén, Mathias (6)
visa fler...
Barrett, Jennifer H (5)
Mann, Graham J (5)
Bergman, Stefan (4)
Jirström, Karin (4)
Stefansson, Kari (4)
Hansson, Johan (4)
Hayward, Nicholas K (4)
Lyssenko, Valeriya (3)
Tuomi, Tiinamaija (3)
Groop, Leif (3)
Salomaa, Veikko (3)
Lind, Lars (3)
Palli, Domenico (3)
Wareham, Nicholas J. (3)
McCarthy, Mark I (3)
Langenberg, Claudia (3)
Boehnke, Michael (3)
Hamsten, Anders (3)
Le Marchand, Loïc (3)
Tuomilehto, Jaakko (3)
Haglund, Emma, 1970- (3)
Thorleifsson, Gudmar (3)
Abecasis, Goncalo R. (3)
Cust, Anne E (3)
Gieger, Christian (3)
Bergman, Birgitta (3)
Díez, Beatriz (3)
Aleman, Soo (3)
Barroso, Ines (3)
Galan, Pilar (3)
Mahajan, Anubha (3)
Froguel, Philippe (3)
Luan, Jian'an (3)
Almquist-Tangen, Ger ... (3)
Roswall, Josefine (3)
Metspalu, Andres (3)
Bracci, Paige M (3)
Holly, Elizabeth A (3)
Nodin, Björn (3)
Gao, Yu (3)
Ljunggren, Hans-Gust ... (3)
Buggert, Marcus (3)
Kovacs, Peter (3)
Olsson, M. Charlotte ... (3)
visa färre...
Lärosäte
Lunds universitet (25)
Uppsala universitet (16)
Karolinska Institutet (15)
Högskolan i Halmstad (14)
Umeå universitet (10)
Göteborgs universitet (7)
visa fler...
Kungliga Tekniska Högskolan (7)
Stockholms universitet (6)
Linköpings universitet (2)
Linnéuniversitetet (2)
visa färre...
Språk
Engelska (55)
Svenska (1)
Odefinierat språk (1)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (50)
Naturvetenskap (9)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy