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1.
  • Allentoft, Morten E., et al. (författare)
  • Population genomics of post-glacial western Eurasia
  • 2024
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625:7994, s. 301-311
  • Tidskriftsartikel (refereegranskat)abstract
    • Western Eurasia witnessed several large-scale human migrations during the Holocene1–5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a ‘great divide’ genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 bp, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 bp, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a ‘Neolithic steppe’ cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations.
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3.
  • Barrie, William, et al. (författare)
  • Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations
  • 2024
  • Ingår i: NATURE. - 0028-0836 .- 1476-4687. ; 625:7994
  • Tidskriftsartikel (refereegranskat)abstract
    • Multiple sclerosis (MS) is a neuro-inflammatory and neurodegenerative disease that is most prevalent in Northern Europe. Although it is known that inherited risk for MS is located within or in close proximity to immune-related genes, it is unknown when, where and how this genetic risk originated1. Here, by using a large ancient genome dataset from the Mesolithic period to the Bronze Age2, along with new Medieval and post-Medieval genomes, we show that the genetic risk for MS rose among pastoralists from the Pontic steppe and was brought into Europe by the Yamnaya-related migration approximately 5,000 years ago. We further show that these MS-associated immunogenetic variants underwent positive selection both within the steppe population and later in Europe, probably driven by pathogenic challenges coinciding with changes in diet, lifestyle and population density. This study highlights the critical importance of the Neolithic period and Bronze Age as determinants of modern immune responses and their subsequent effect on the risk of developing MS in a changing environment. Analysis of a large ancient genome dataset shows that genetic risk for multiple sclerosis rose in steppe pastoralists, providing insight into how genetic ancestry from the Neolithic and Bronze Age has shaped modern immune responses.
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4.
  • Bjermo, Helena, et al. (författare)
  • Lead, mercury, and cadmium in blood and their relation to diet among Swedish adults
  • 2013
  • Ingår i: Food and Chemical Toxicology. - : Elsevier BV. - 0278-6915. ; 57, s. 161-9
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of the present study was to examine the body burden of lead (Pb), mercury (Hg), and cadmium (Cd) in blood among Swedish adults and the association between blood levels, diet and other lifestyle factors. The study was based on a subgroup (n = 273) of the national survey Riksmaten 2010-2011 (4-day food records and questionnaire). Lead, Hg, and Cd were measured in whole blood, and Cd additionally in urine, by mass or fluorescence spectrometry methods. The median values (5-95th percentiles) of the metals in blood were as follows: Pb: 13.4 (5.8-28.6) mu g/L, Hg: 1.13 (0.31-3.45) mu g/L, and Cd: 0.19 (0.09-1.08) mu g/L. All three metals increased with increasing age. Lead levels in blood were positively associated with intakes of game and alcohol, Hg was related to fish intake, and blood Cd related to smoking and low iron stores and to a low meat intake. Body burdens of the studied metals were generally below health based reference values, but several individuals had blood Pb levels above the reference point for possible nephrotoxic and developmental neurotoxic effects. As health effects cannot be excluded, individuals with high Pb exposure should aim at decreasing their body burden, both from food and from other exposure routes. (c) 2013 Elsevier Ltd. All rights reserved.
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5.
  • Blomstrand, Lena, et al. (författare)
  • Telemedicine : a complement to traditional referrals in oral medicine
  • 2012
  • Ingår i: Telemedicine journal and e-health. - : Mary Ann Liebert Inc. - 1530-5627 .- 1556-3669. ; 18:7, s. 549-553
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction:Introducing telemedicine into clinical practice has not been without difficulties. Within the framework of the European Union project "Health Optimum," telemedicine consultations with specialists at the Department of Oral & Maxillofacial Surgery at Uppsala University Hospital (Uppsala, Sweden) have been offered to dentists in the public dental health service. The aim is to streamline the consultation process, improve/develop the skills of the participating dentists and dental hygienists, and save time and money for patients, healthcare authorities, and society.Subjects and Methods:Patient records are collected in a database for demonstration and discussion, and the system is also available for referrals. Both medical and dental photographs and x-rays are digitized in the same system. These can be viewed during telemedicine rounds and by the consultants at the hospital prior to a consultation. Secure, interactive conferencing software is used, which provides a quick, easy, and effective way to share video and data over the Internet. Both parties can demonstrate different parts of an image using a pointer or a drawing system. Conference phones are presently used for verbal communication.Results:Ten patients were discussed during telemedicine rounds (3 males and 7 females), all of whom would normally have been referred to a specialist. As a result of the telemedicine round, 2 were referred to a specialist, whereas diagnoses were made for the other 8, and treatment was suggested. The dental health clinic could thus provide treatment without the need for referral to a consultant.Conclusions:The telemedicine system described here allows patient care to be provided rapidly and more economically. Future plans include "live" rounds using a videocamera, providing the possibility to relay real-time information about the intraoral situation. A camera is being developed and should preferably be permanently installed chair side.
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6.
  • Hillbertz, Nicolette Salmon, et al. (författare)
  • Viral and Molecular Aspects of Oral Cancer
  • 2012
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 32:10, s. 4201-4212
  • Forskningsöversikt (refereegranskat)abstract
    • Squamous cell carcinoma (SCC) is the most common epithelial malignancy in the oral cavity. SCCs and their variants constitute over 90% of oral malignancies, and the disease is associated with poor prognosis. OSCC is a complex malignancy where environmental factors, virus infections, and genetic alterations most likely interact, and thus give rise to the malignant condition. Herein, we review the available literature regarding high-risk factors such as alcohol and tobacco usage; discuss the roles of human papillomaviruses (HPV), the Epstein-Barr virus, and the human herpes simplex virus (HSV); and evaluate several candidate genes associated with the condition: p53, p16(INK4) and p21(WAF1/CIP1) survivin, B-cell lymphoma-2 (BCL-2), keratins, Fibroblast growth factor 3 (FGF3), FGF4, FGF19, Oral cancer overexpressed gene 1 (ORAOV1), and Cyclin D1 (CCND1).
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7.
  • Hirsch, Jan-Michael, et al. (författare)
  • Oral Cancer in Swedish Snuff Dippers
  • 2012
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 32:8, s. 3327-3330
  • Tidskriftsartikel (refereegranskat)abstract
    • Over recent decades there has been debate over whether or not Swedish snuff is carcinogenic in humans. Animal studies and molecular biological and experimental studies have shown the carcinogenic potential of Swedish snuff, but this has not been proved in prospective randomized studies. We present a case series of patients with oral squamous cell carcinomas diagnosed at the sites where the patients had used Swedish snuff for several years. Sixteen male patients were referred to and treated at Oral and Maxillofacial Surgery Departments and Ear, Nose and Throat clinics at seven different hospitals in Sweden. The mean age of the patients at the time of diagnosis was 72.9 years and the mean time of snuff use prior to cancer diagnosis was 42.9 years. This case series shows that Swedish snuff may not be a harmless alternative to smoking.
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9.
  • Hirsch, JM, et al. (författare)
  • Screening kan minska insjuknade i munhålecancer
  • 2017
  • Ingår i: Tandläkartidningen. - 0039-6982. ; 2017:9, s. 50-53
  • Forskningsöversikt (refereegranskat)abstract
    • Oral cancer har hög morbiditet och mortalitet om den inte upptäcks i tid och antalet sjukdomsfall ökar. Ett nationellt program för screening av munhålan skulle kunna minska antalet cancerfall betydligt, eftersom en stor del av cancerfallen orsakas av miljö- och livsstilsfaktorer. Tobak, alkohol och dålig tandhälsa är några av riskfaktorerna.
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10.
  • Iversen, Lars Lönnsman, et al. (författare)
  • Sexual conflict and intrasexual polymorphism promote assortative mating and halt population differentiation
  • 2019
  • Ingår i: Proceedings of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8452 .- 1471-2954. ; 286, s. 1-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Sexual conflict is thought to be an important evolutionary force in drivingphenotypic diversification, population divergence, and speciation. However,empirical evidence is inconsistent with the generality that sexual conflictenhances population divergence. Here, we demonstrate an alternativeevolutionary outcome in which sexual conflict plays a conservative role inmaintaining male and female polymorphisms locally, rather than promotingpopulation divergence. In diving beetles, female polymorphisms haveevolved in response to male mating harassment and sexual conflict. We presentthe first empirical evidence that this female polymorphism is associatedwith (i) two distinct and sympatric male morphological mating clusters(morphs) and (ii) assortative mating between male and female morphs.Changes in mating traits in one sex led to a predictable change in the othersex which leads to predictable within-population evolutionary dynamics inmale and female morph frequencies. Our results reveal that sexual conflictcan lead to assortative mating between male offence and female defencetraits, if a stable male and female mating polymorphisms are maintained.Stable male and female mating polymorphisms are an alternative outcometo an accelerating coevolutionary arms race driven by sexual conflict. Suchstable polymorphisms challenge the common view of sexual conflict as anengine of rapid speciation via exaggerated coevolution between sexes.
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11.
  • Jalouli, Jamshid, et al. (författare)
  • Human Papilloma Virus, Herpes Simplex Virus and Epstein Barr Virus in Oral Squamous Cell Carcinoma from Eight Different Countries
  • 2012
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 32:2, s. 571-580
  • Tidskriftsartikel (refereegranskat)abstract
    • Oral squamous cell carcinoma (OSCC) is a major health problem in many parts of the world, and the major causative agents are thought to he the use of alcohol and tobacco. Oncogenic viruses have also been suggested to be involved in OSCC development. This study investigated the prevalence of human papillomaviruses (HPV), herpes simplex virus (HSV) and Epstein-Barr virus (EBV) in 155 OSCC from eight different countries from different ethnic groups, continents and with different socioeconomic backgrounds. 41 A total of OSCCs were diagnosed in the tongue (26%) and 23 in the floor of the mouth (15%); the other 91 OSCCs were diagnosed in other locations (59%). The patients were also investigated regarding the use of alcohol and smoking and smokeless tobacco habits. Tissue samples were obtained from formalin-fixed, paraffin-embedded samples of the OSCC. DNA was extracted and the viral genome was examined by single, nested and seminested PCR assays. Sequencing of double-stranded DNA from the PCR product was carried out. Following sequencing of the HPV-, HSV- and EBV-positive PCR products, 100% homology between the sampels was found. Of all the 155 OSCCs examined, 85 (55%) were positive for EBV, 54 (35%) for HPV and 24 (15%) for HSV. The highest prevalence of HPV was seen in Sudan (65%), while HSV (55%) and EBV (80%) were most prevalent in the UK. In 34% (52/155) of all the samples examined, co-infection by two (46/155=30%) or three (6/155=4%) virus specimens was detected. The most frequent double infection was HPV with EBV in 21% (32/155) of all OSCCs. There was a statistically significant higher proportion of samples with HSV (p=0.026) and EBV (p=0.015) in industrialized countries (Sweden, Norway, UK and USA) as compared to developing countries (Sudan, India, Sri Lanka and Yemen). Furthermore, there was a statistically significant higher co-infection of HSV and EBV in samples from industrialized countries (p=0.00031). No firm conclusions could be drawn regarding the relationship between alcohol, tobacco and virus infections. The significance of our findings must be put in relation to other risk factors and these observations warrant further studies to determine the possible role of viral infections and co-infections with HPV, EBV and HSV as risk markers for the development of OSCC.
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12.
  • Jalouli, Miranda, et al. (författare)
  • Comparison Between Single PCR and Nested PCR in Detection of Human Papilloma Viruses in Paraffin-embedded OSCC and Fresh Oral Mucosa
  • 2015
  • Ingår i: In Vivo. - 0258-851X .- 1791-7549. ; 29:1, s. 65-70
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Infection with human papilloma virus (HPV) has been implicated as one of the risk factors for the development of oropharyngeal cancer. Many different HPV tests exist, and information regarding their specific technical, analytical, and clinical properties is increasing. Aim: This study aimed to compare the level of detection of HPV using two reliable polymerase chain reaction (PCR) methods, nested PCR (NPCR) and single PCR (SPCR), in archival paraffin-embedded oral squamous cell carcinoma (OSCC) samples and fresh oral mucosa specimens. Materials and Methods: The presence of HPV genome in two groups of tissue samples was analyzed: (i) 57 paraffin-embedded OSCC samples from Sudan and (ii) eight healthy fresh oral mucosal samples from Swedish volunteers. The specimens were tested by SPCR with primer pair MY9/MY11 and NPCR using GP5+/GP6+ primer sets. Results: Eighteen (32%) out of the 57 paraffin-embedded OSCC samples, and five (62%) out of the eight fresh clinically healthy samples were found to be HPV-positive with NPCR. With SPCR, four (7%) out of the paraffin-embedded OSCC samples were HPV-positive. A statistically significant difference between HPV-positive and -negative samples was found when comparing NPCR and SPCR in OSCC and fresh oral mucosa (p<0.0001). The comparative test between SPCR and NPCR showed 100% sensitivity and 69% specificity for OSCC. Conclusion: The use of the GP5+/GP6+ nested PCR increased the positivity rate, efficiency rate and sensitivity of HPV detection in oral samples significantly and should be considered as the method of choice.
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13.
  • Jalouli, Miranda M, et al. (författare)
  • Association of Human Papilloma Virus infection in healthy oral mucosa, oral dysplasia and oral squamous cell carcinoma
  • 2015
  • Ingår i: Journal of Oral Health and&nbsp;Dental Management. - 1583-5588. ; 14:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Aims: Human papillomavirus (HPV) is an important risk factor for development of oral cancer; however, the integrational status of the virus into the host DNA association between HPV infection and oral squamous cell carcinoma (OSCC) is still uncertain has not been investigated to the same extent. The objective of the present study was to investigate the prevalence of consensus HPV, and HPV-16 and its integration status, in healthy oral mucosa, oral epithelial dysplasia (OED), and OSCC samples.Materials and Methods: The study material consisted of 26 fresh, normal oral mucosa samples, and 53 and 27 paraffin-embedded OED and OSCC samples, respectively. The specimens were DNA extracted and investigated for the presence of HPV, and HPV-16 and its integration status, by polymerase chain reaction (PCR) and DNA sequencing.Results: Thirty-eight (72%) of the 53 paraffin-embedded OED samples, 16 (59%) of the 27 OSCC samples, and 12 (46%) of the 26 control samples were found to be HPV-DNA positive, with nested PCR (NPCR). Further, HPV-16 was detected in 31 (82%), 15 (94%), and 0 (0%) HPV-positive OED cases, HPV-positive OSCC cases, and controls, respectively. Integration was observed in 26/31 (84%) and 13/15 (87%) of the HPV-16-positive OED and OSCC cases, respectively. A statistically significant difference was found comparing prevalence of HPV-16 in controls with that in both OED and OSCC samples (P<0.005). A statistically significant difference was also found comparing prevalence of integrated and episomal viral forms comparing OED and OSCC samples (P<0.005).Conclusion: The high prevalence of HPV and high-risk HPV-16 in OED and OSCC samples suggests a potential aetiologic role for the virus in OSCC.
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14.
  • Jalouli, Miranda M., et al. (författare)
  • Differential Expression of Apoptosis, Cell Cycle Regulation and Intermediate Filament Genes in Oral Squamous Cell Carcinomas Associated with Toombak Use in Sudan
  • 2011
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 31:10, s. 3345-3351
  • Tidskriftsartikel (refereegranskat)abstract
    • Previously we used microarray genomic hybridization technology to explore genome-wide profiles of chromosomal aberrations in samples of oral squamous cell carcinomas (OSCCs) and paired normal controls. Based on these findings, 9 genes related to apoptosis, cell cycle regulation and intermediate filament proteins were selected and their differential expression status was examined by real-time quantitative RT-PCR in 26 samples of Sudanese OSCCs and their matched normal controls. The findings were correlated with the habit of toombak use. The mRNA levels of Bcl2, keratin 1, keratin 13 and p53 were significantly lower and the level of survivin was significantly higher in the OSCC samples of the toombak users compared to their paired control samples. A significant down-regulation in keratin I and keratin 13 expression levels was found in the OSCC samples of the non-toombak users compared to their normal control samples. The differential expression of genes related to apoptosis, cell cycle regulation and types I and II keratin could be useful diagnostic markers and provide valuable information for the understanding of oral malignancy in relation to toombak use.
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15.
  • Jalouli, Miranda, et al. (författare)
  • Nested PCR for detection of HSV-1 in oral mucosa
  • 2015
  • Ingår i: Medicina Oral, Patologia Oral y Cirugia Bucal. - : Medicina Oral, S.L.. - 1698-4447 .- 1698-6946. ; 20:6
  • Tidskriftsartikel (refereegranskat)abstract
    • © Medicina Oral S. L. Background: It has been estimated that 15%-20% of human tumours are driven by infection and inflammation, and viral infections play an important role in malignant transformation. The evidence that herpes simplex virus type 1 (HSV-1) could be involved in the aetiology of oral cancer varies from weak to persuasive. This study aimed to investigate by nested PCR (NPCR) the prevalence of HSV-1 in samples from normal oral mucosa, oral leukoplakia, and oral squamous cell carcinoma (OSCC). Material and Methods: We investigated the prevalence of HSV-1 in biopsies obtained from 26 fresh, normal oral mucosa from healthy volunteers as well as 53 oral leukoplakia and 27 OSCC paraffin-embedded samples. DNA was extracted from the specimens and investigated for the presence of HSV-1 by nested polymerase chain reaction (NPCR) and DNA sequencing. Results: HSV-1 was detected in 14 (54%) of the healthy samples, in 19 (36%) of the oral leukoplakia samples, and in 14 (52%) of the OSCC samples. The differences were not statistically significant. Conclusions: We observed a high incidence of HSV-1 in healthy oral mucosa, oral leukoplakia, and OSCC tissues. Thus, no connection between OSCC development and presence of HSV-1 was detected.
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16.
  • Jäwert, Fredrik, et al. (författare)
  • Loss of 5-Hydroxymethylcytosine and TET2 in Oral Squamous Cell Carcinoma.
  • 2013
  • Ingår i: Anticancer research. - 1791-7530 .- 0250-7005. ; 33:10, s. 4325-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: Epigenetic modifications, such as DNA methylation, are considered important in the regulation of target genes in cancer development. 5-Hydroxymethylcytosine (5hmC) was recently discovered to be related to the process of malignant transformation. The influence of DNA methylation in oral squamous cell carcinomas (OSCC) is not fully-understood. Therefore, the aim of the present study was to investigate the DNA methylation pattern in OSCC compared to healthy oral epithelium.
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17.
  • Kljajić, Marizela, et al. (författare)
  • Children Treated for Nonsyndromic Craniosynostosis Exhibit Average Adaptive Behavior Skills with Only Minor Shortcomings
  • 2021
  • Ingår i: Plastic and reconstructive surgery. - 1529-4242. ; 147:2, s. 453-464
  • Tidskriftsartikel (refereegranskat)abstract
    • Copyright © 2021 by the American Society of Plastic Surgeons. BACKGROUND: Adaptive behavior skills are important when assessing cognitive functions related to daily life; however, few studies have assessed these skills in patients treated for nonsyndromic craniosynostosis. In this study, the authors assessed the adaptive behavior skills of children treated for craniosynostosis and examined whether their outcomes are related to surgical technique. METHODS: The Adaptive Behavior Assessment System, 2nd Edition, parent report was used for children (age, 7 to 16 years) treated for sagittal (n = 41), metopic (n = 24), and other rare synostoses (n = 8). Background data, including intelligence quotient, were controlled for confounders. RESULTS: All evaluated children treated for craniosynostosis were estimated as lower in all aspects of adaptive behavior skills (full-scale, conceptual, social, and practical composites; effect size, 0.36 to 0.44) as compared with norms. The sagittal group showed shortcomings in social composite (effect size, 0.48) and subscales measuring self-care and self-direction, although no difference was observed between spring-assisted surgery and pi-plasty regarding outcomes of adaptive behavior skills. In addition, children treated for metopic synostosis showed results indicating shortcomings with adaptive behavior according to the full-scale, conceptual, and social composites (effect size, 0.53 to 0.61) relative to norms. Furthermore, attrition analysis revealed no significant differences between responders (rate, 80.2 percent) and nonresponders. CONCLUSION: These results found that children treated for craniosynostosis display average adaptive behavior skills, and that the two surgical techniques used to treat sagittal synostosis did not differ in their behavioral outcomes. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.
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18.
  • Kljajić, Marizela, et al. (författare)
  • Health-related quality of life of children treated for non-syndromic craniosynostosis
  • 2023
  • Ingår i: Journal of Plastic Surgery and Hand Surgery. - 2000-656X. ; 57:1-6
  • Tidskriftsartikel (refereegranskat)abstract
    • Health-related quality of life (HRQoL) allows the acquisition of the subjective perspective of patients regarding their health and function; yet a very few studies have been evaluated HRQoL of patients treated for craniosynostosis (CS). In this retrospective, descriptive cohort study, school-aged children (7–16 years) treated for non-syndromic CS were assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales. Seventy-three patients and their parents responded to the PedsQL (response rate: 80.2%). Patients generally estimated average HRQoL with no difference compared to the normal population sample. Further, no difference in HRQoL was found between treated sagittal (SS) or metopic synostosis. In the SS group, surgical methods involving spring-assisted surgery and pi-plasty were unrelated to HRQoL outcomes. Additionally, HRQoL was highly correlated with intelligence quotient (IQ, r = 0.42; p = 0.0004) and adaptive behavior skills (ABAS, r = 0.57; p = 0.0001). Furthermore, differences were observed in estimated physical function (p = 0.002) and school function (p = 0.012) between self- and proxy reports (i.e. parents estimated child HRQoL as higher than did the children). Children treated for CS have a generally average HRQoL, and neither CS type nor surgical method influenced HRQoL outcomes. Moreover, children and parents estimated HRQoL differently, suggesting the importance of using both self- and proxy reporting in patient-reported measures. HRQoL was strongly related to IQ and ABAS, indicating that the PedsQL can be used as a screening instrument to identify craniofacial patients in need of further psychological assessment.
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19.
  • Kljajić, Marizela, et al. (författare)
  • Sustained attention and vigilance of children treated for sagittal and metopic craniosynostosis.
  • 2020
  • Ingår i: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. - : Informa UK Limited. - 1744-4136. ; 26:4, s. 475-488
  • Tidskriftsartikel (refereegranskat)abstract
    • Attention problems are common in patients with craniosynostosis. Craniosynostosis is a rare condition, studies face challenges of selection bias, small sample sizes, and wide age ranges. The aim of the study was to assess the sustained attention and vigilance of children treated for sagittal and metopic craniosynostosis. To reduce selection bias, we included children that had previously undergone surgery for craniosynostosis, were between 8 and 16years, and lived close to the craniofacial centre. The Connors Continuous Performance Test (3rd edition) was used to measure sustained attention and vigilance (n =61; response rate: 76.3%). Attrition analysis revealed no differences between responding and non-responding groups regarding background variables. One identified difference between the SS (n =28) and MS (n =23) groups involved significantly better performance by the SS group in the hit-reaction time (HRT) test relative to the MS group (p<0.05). Compared with the norms, the SS group showed significantly worse response style, detectability, omissions, commissions, perseverations, HRT response speed (HRT-SD), HRT inter-stimulus interval change (HRT-iC) (p<0.01 for all), and variability (p<0.05). The MS group showed significantly worse detectability, HRT-SD, variability (p<0.01 for all), commissions, perseverations and HRT-iC (p<0.05 for all) as compared with norms. No differences regarding attention was detected for the two different surgical techniques used for correction of sagittal synostosis. There were shortcomings in sustained attention and vigilance as compared with the norms in the SS and MS groups, although the deviations were small.
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20.
  • Kljajić, Marizela, et al. (författare)
  • The Cognitive Profile of Children with Non-syndromic Craniosynostosis
  • 2019
  • Ingår i: Plastic and reconstructive surgery. - 1529-4242. ; 143:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Long-term neuropsychological and cognitive outcomes in patients with non-syndromic craniosynostosis have proven difficult to evaluate objectively due to methodological problems with published studies based on their small and biased samples of patients, wide age ranges, and testing with unacceptable psychometric properties. This study evaluated full-scale intelligence quotient (FSIQ) and its subscales in a cohort with a small selection bias.Patients (aged 7-16 years) born with non-syndromic craniosynostosis and surgically treated were tested using the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV). Ninety-one patients were invited, and 73 patients were tested.There was no difference in FSIQ between patients having undergone operations for sagittal synostosis or metopic synostosis and norms provided by the test. Patients operated on for sagittal synostosis showed a significantly higher perceptual reasoning IQ, but also significantly lower working-memory IQ and processing-speed IQ as compared with the norms. Patients operated on for metopic synostosis showed no differences in any IQ index as compared with the norm. Additionally, attrition analysis showed no differences in background factors between responders and non-responders.These results derived from a group of patients with uniform age range, and tested using an established tool revealed that non-syndromic children having undergone surgery for craniosynostosis exhibited average intellectual ability. However, the analysis indicated possible issues with working memory and processing speed in patients operated on for sagittal synostosis, highlighting impairments potentially associated with neuropsychological problems and that might contribute to learning disabilities.
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21.
  • Kollander, B., et al. (författare)
  • Inorganic arsenic in food products on the Swedish market and a risk-based intake assessment
  • 2019
  • Ingår i: Science of the Total Environment. - : Elsevier BV. - 0048-9697. ; 672, s. 525-535
  • Tidskriftsartikel (refereegranskat)abstract
    • Inorganic arsenic (iAs) and total arsenic (tAs) were determined in common food from the Swedish market. Special focus was on rice, fish and shellfish products. For the speciation of iAs the European standard EN:16802 based on anion exchange chromatography coupled to ICP-MS was used. The two market basket food groups cereals (including rice), and sweets and condiments (a mixed group of sugar, sweets, tomato ketchup and dressings), contained the highest iAs levels (means 9 and 7 mu g iAs/kg), whereas other food groups, including fish, did not exceed 2 mu g iAs/kg. Varying levels of iAs were found in separate samples of tomato ketchup, 2.4-26 mu g/kg, and is suggested to be one reason of the rather high average level of iAs in the food group sweets and condiments. Some specific food products revealed iAs levels much higher, i.e. lice crackers 152 and Norway lobster 89 mu g iAs/kg. The intake of iAs via food was estimated by data from two national consumption surveys, performed in 2010-11 (1797 adults) and 2003 (2259 children). The estimated median iAs intakes in adults and children were 0.047 and 0.095 mu g/kg body weight and day, respectively. The iAs intake for rice eaters was about 1.4 times higher than for non-rice eaters. Validation of the consumption survey-based iAs intake, using food purchase and market basket data mainly from 2015, resulted in a per capita intake of a similar magnitude, i.e. 0.056 mu g/kg body weight and day. The estimated cancer risk for adults using low-dose linear extrapolation is <1 per 100,000 per year. (C) 2019 Elsevier B.V. All rights reserved.
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22.
  • Lekerud, Ann-Kristin, et al. (författare)
  • Treatment of sleep apnoea using a mandibular advancement splint : an open prospective study
  • 2012
  • Ingår i: In Vivo. - 0258-851X .- 1791-7549. ; 26:5, s. 841-845
  • Tidskriftsartikel (refereegranskat)abstract
    • Obstructive sleep apnoea (OSA) may cause considerable disturbances, including the development of health problems. This study was performed in order to evaluate the results of treating OAS with a mandibular advancement splint (MAS), and to evaluate the effects of this treatment. This was a prospective open longitudinal study. Ninety patients were randomly selected and included in the study. All 90 patients received an MAS. Forty-eight patients concluded the study, whereas 27 dropped-out and 15 were excluded. The sleep pattern was monitored at home with portable equipment. There was a clear tendency towards a reduction in the apnoea/hypopnea index (AHI) and the oxygen desaturation index (ODI) between the two investigations. Furthermore, there was a tendency towards reduced sleep apnoea; ratings on the Epworth sleepiness scale were lower, indicating a reduction in daytime sleepiness. Treatment with MAS in our study reduced sleep apnoea and snoring, and lowered the values of the Epworth sleepiness scale, indicating a reduction in daytime sleepiness in the majority of the patients. Lifestyle factors are not believed to have affected the results.
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23.
  • Lunde, Mai Lill Suhr, et al. (författare)
  • Gene expression analysis by cDNA microarray in oral cancers from two Western populations
  • 2010
  • Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 30:4, s. 1083-1091
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: In this work, gene expression profile was examined in 19 cases of oral cancer (OC) obtained from patients from Sweden (n=8) and UK (n=11) and the findings were tested for correlation to patient's clinicopathological data. MATERIALS AND METHODS: Following total RNA extraction, cDNA synthesis, labeling with fluorescent dyes and hybridization to the 21 k human oligonucleotide microarrays, slides were scanned and images were subjected to Genepix and J-Express analysis. Results for selected genes were validated by quantitative reverse transcriptase polymerase chain reaction (Q-RT-PCR). RESULTS: 42 genes were identified as being differentially expressed. These included 39 genes of known functions (such as fatty acid synthase (FASN), 5' nucleotidase, ecto (NT5E), high mobility group AT-hook (HMGA1), and v-fos FBJ murine osteosarcoma viral oncogene homolog (FOS)) and 3 novel genes; 26 (67%) of the 39 genes with known functions were previously reported in oral/head and neck tumors examined from other populations. Hierarchical clustering of the samples using the 42 genes demonstrated that samples mainly clustered in the same population. CONCLUSION: These results illustrate that microarrays can be used to identify distinct patterns of gene expression in different populations, but with no direct association to clinicopathological parameters. The fact that 67% of the 39 genes with known functions found in this work were previously reported in oral/head and neck tumors from other populations provides clear evidence that development of these tumors follows the same biological pathways irrespective of the source of the samples used.
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24.
  • MacArtney, John, et al. (författare)
  • Patients' initial steps to cancer diagnosis in Denmark, England and Sweden : what can a qualitative, cross-country comparison of narrative interviews tell us about potentially modifiable factors?
  • 2017
  • Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 7:11
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: To illuminate patterns observed in International Cancer Benchmarking Programme studies by extending understanding of the various influences on presentation and referral with cancer symptoms.DESIGN: Cross-country comparison of Denmark, England and Sweden with qualitative analysis of in-depth interview accounts of the prediagnostic process in lung or bowel cancer.PARTICIPANTS: 155 women and men, aged between 35 and 86 years old, diagnosed with lung or bowel cancer in 6 months before interview.SETTING: Participants recruited through primary and secondary care, social media and word of mouth. Interviews collected by social scientists or nurse researchers during 2015, mainly in participants' homes.RESULTS: Participants reported difficulties in interpreting diffuse bodily sensations and symptoms and deciding when to consult. There were examples of swift referrals by primary care professionals in all three countries. In all countries, participants described difficulty deciding if and when to consult, highlighting concerns about access to general practitioner appointments and overstretched primary care services, although this appears less prominent in the Swedish data. It was not unusual for there to be more than one consultation before referral and we noted two distinct patterns of repeated consultation: (1) situations where the participant left the primary care consultation with a plan of action about what should happen next; (2) participants were unclear about under which conditions to return to the doctors. This second pattern sometimes extended over many weeks during which patients described uncertainty, and sometimes frustration, about if and when they should return and whether there were any other feasible investigations. The latter pattern appeared more evident in the interviews in England and Denmark than Sweden.CONCLUSION: We suggest that if clear action plans, as part of safety netting, were routinely used in primary care consultations then uncertainty, false reassurance and the inefficiency and distress of multiple consultations could be reduced.
  •  
25.
  • Malmström, Marlene, et al. (författare)
  • It is important that the process goes quickly, isn't it?” A qualitative multi-country study of colorectal or lung cancer patients’ narratives of the timeliness of diagnosis and quality of care
  • 2018
  • Ingår i: European Journal of Oncology Nursing. - : Elsevier BV. - 1462-3889 .- 1532-2122. ; 34, s. 82-88
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: The emphasis on early diagnosis to improve cancer survival has been a key factor in the development of cancer pathways across Europe. The aim of this analysis was to explore how the emphasis on early diagnosis and timely treatment is reflected in patient's accounts of care, from the first suspicion of colorectal or lung cancer to their treatment in Denmark, England and Sweden. Method: We recruited 155 patients in Denmark, England and Sweden who were within six months of being diagnosed with lung or colorectal cancer. Data were collected via semi-structured narrative interviews and analysed using a thematic approach. Results: Participants’ accounts of quality of care were closely related to how quickly (or not) diagnosis, treatment and/or healthcare processes went. Kinetic metaphors as a description of care (such as treadmill) could be interpreted positively as participants were willing to forgo some degree of control and accept disruption to their lives to ensure more timely care. Drawing on wider cultural expectations of the benefits of diagnosing and treating cancer quickly, some participants were concerned that the waiting times between interventions might allow time for the cancer to grow. Conclusions: Initiatives emphasising the timeliness of diagnosis and treatment are reflected in the ways some patients experience their care. However, these accounts were open to further contextualisation about what speed of healthcare processes meant for evaluating the quality of their care. Healthcare professionals could therefore be an important patient resource in providing reassurance and support about the timeliness of diagnosis or treatment.
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