43 research outputs found

    Familian Hypercholesterolemia in the Faroe Islands

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    Lipids, lipoproteins and prevalence of familial hypercholesterolemia in the Faroe Islands – Results from a nationwide laboratory database

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    BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is one of the most common hereditary disorders. The population of the Faroe Islands was established by few founders, and genetic drift may have influenced lipid levels. The aim of this study was to describe the lipid distribution by providing age and sex-specific lipid values and to investigate the prevalence of FH in the Faroe Islands. METHODS: We used an electronic nationwide laboratory database that included lipid measurements obtained in the Faroe Islands between January 2006 and September 2020. Percentiles of lipid levels were calculated using quantile regression. The prevalence of FH was estimated according to the Make Early Diagnosis Prevent Early Death (MEDPED) diagnostic criteria and according to the LDL-C cut-off levels included in the Dutch Lipid Clinic Network (DLCN) criteria using generalized linear models with robust variance. RESULTS: According to the MEDPED age-specific cut-offs for LDL-C, a total of 216 subjects met the criteria for definite FH among 30,711 individuals corresponding to a prevalence of 0.70% (1:142). According to the LDL-C cut-offs included in the DLCN criteria, a total of 3,823 (1:8) subjects could be classified as having possible FH, and 10 (1:3,071) subjects could be classified as probable FH corresponding to a prevalence of 12.4% and 0.03%, respectively. Also, we found significant differences in lipid levels according to sex and age groups. CONCLUSION: The Faroe Islands might represent a founder population with a prevalence of possible FH as high as 1 in 8. Further investigation of genetic and clinical characteristics of FH in the Faroe Islands is needed

    Familial hypercholesterolaemia:a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands

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    INTRODUCTION: Familial hypercholesterolaemia (FH) is the most common monogenic autosomal dominant genetic disorder and is associated with a high risk of premature atherosclerotic cardiovascular disease. The prevalence of FH has been reported to be particularly high in certain founder populations. The population of the Faroe Islands is a founder population, but the prevalence of FH has never been investigated here. We aim to assess the prevalence of FH and to describe the genetic and clinical characteristics and potential causes of FH in the Faroe Islands. Furthermore, we aim to investigate whether indicators of subclinical coronary artery disease are associated with FH. METHODS AND ANALYSIS: The prevalence of FH will be estimated based on an electronic nationwide laboratory database that includes all measurements of plasma lipid levels in the Faroe Islands since 2006. Subsequently, we will identify and invite subjects aged between 18 and 75 years registered with a plasma low-density lipoprotein cholesterol above 6.7 mmol/L for diagnostic evaluation. Eligible FH cases will be matched to controls on age and sex. We aim to include 120 FH cases and 120 controls. Detailed information will be collected using questionnaires and interviews, and a physical examination will be undertaken. An adipose tissue biopsy and blood samples for genetic testing, detailed lipid analyses and samples for storage in a biobank for future research will be collected. Furthermore, FH cases and controls will be invited to have a transthoracic echocardiography and a cardiac CT performed. ETHICS AND DISSEMINATION: The project has been approved by the Ethical Committee and the Data Protection Agency of the Faroe Islands. The project is expected to provide important information, which will be published in international peer-reviewed journals

    Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia

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    BACKGROUND AND AIMS: Limited knowledge exists regarding the association between coronary artery calcium (CAC) deposition in patients with clinical familial hypercholesterolemia (FH) and FH subtypes such as polygenic causes. We studied CAC score in patients with clinical FH and subtypes including polygenic causes of FH compared to healthy controls. METHODS: In a case-control study, we identified potential clinical FH cases registered with an LDL-C >6.7 mmol/l within a nationwide clinical laboratory database on the Faroe Islands and invited them for diagnostic evaluation according to clinical FH scoring systems. Controls were identified in the background population. All subjects were aged 18–75 years and without a history of cardiovascular disease. FH mutation testing and genotypes of twelve LDL-C associated single nucleotide polymorphisms were determined using conventional methods in selected individuals. CAC scores were assessed by cardiac CT. Odds ratios obtained using multivariate logistic regression were used as measures of association. RESULTS: A total of 120 clinical FH patients and 117 age- and sex-matched controls were recruited. We found a very low frequency of monogenic FH (3%), but a high level of polygenic FH (60%) in those genetically tested (54%). There was a statistically significant association between the CAC score and a diagnosis of clinical FH with the highest observed odds ratio of 5.59 (95% CI 1.65; 18.94, p = 0.006) in those with a CAC score ≥300 compared to those with a CAC of zero. In supplemental analyses, there was a strong association between CAC scores and clinical FH of a polygenic cause. CONCLUSION: We found a statistically significant association between CAC levels and clinical FH with the highest observed risk estimates among clinical FH cases of a presumed polygenic cause

    Narcissism and the strategic pursuit of short-term mating : universal links across 11 world regions of the International Sexuality Description Project-2.

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    Previous studies have documented links between sub-clinical narcissism and the active pursuit of short-term mating strategies (e.g., unrestricted sociosexuality, marital infidelity, mate poaching). Nearly all of these investigations have relied solely on samples from Western cultures. In the current study, responses from a cross-cultural survey of 30,470 people across 53 nations spanning 11 world regions (North America, Central/South America, Northern Europe, Western Europe, Eastern Europe, Southern Europe, Middle East, Africa, Oceania, Southeast Asia, and East Asia) were used to evaluate whether narcissism (as measured by the Narcissistic Personality Inventory; NPI) was universally associated with short-term mating. Results revealed narcissism scores (including two broad factors and seven traditional facets as measured by the NPI) were functionally equivalent across cultures, reliably associating with key sexual outcomes (e.g., more active pursuit of short-term mating, intimate partner violence, and sexual aggression) and sex-related personality traits (e.g., higher extraversion and openness to experience). Whereas some features of personality (e.g., subjective well-being) were universally associated with socially adaptive facets of Narcissism (e.g., self-sufficiency), most indicators of short-term mating (e.g., unrestricted sociosexuality and marital infidelity) were universally associated with the socially maladaptive facets of narcissism (e.g., exploitativeness). Discussion addresses limitations of these cross-culturally universal findings and presents suggestions for future research into revealing the precise psychological features of narcissism that facilitate the strategic pursuit of short-term mating

    ICAR: endoscopic skull‐base surgery

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    Narcisismo y búsqueda estratégica del emparejamiento a corto plazo a través de las culturas: Enlaces omnipresentes a través de 11 regiones mundiales del Proyecto de la descripción de la sexualidad internacional 2

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    Previous studies have documented links between sub-clinical narcissism and the active pursuit of short-term mating strategies (e.g., unrestricted sociosexuality, marital infidelity, mate poaching). Nearly all of these investigations have relied solely on samples from Western cultures. In the current study, responses from a cross-cultural survey of 30,470 people across 53 nations spanning 11 world regions (North America, Central/South America, Northern Europe, Western Europe, Eastern Europe, Southern Europe, Middle East, Africa, Oceania, Southeast Asia, and East Asia) were used to evaluate whether narcissism (as measured by the Narcissistic Personality Inventory; NPI) was universally associated with short-term mating. Results revealed narcissism scores (including two broad factors and seven traditional facets as measured by the NPI) were functionally equivalent across cultures, reliably associating with key sexual outcomes (e.g., more active pursuit of short-term mating, intimate partner violence, and sexual aggression) and sex-related personality traits (e.g., higher extraversion and openness to experience). Whereas some features of personality (e.g., subjective well-being) were universally associated with socially adaptive facets of Narcissism (e.g., self-sufficiency), most indicators of short-term mating (e.g., unrestricted sociosexuality and marital infidelity) were universally associated with the socially maladaptive facets of narcissism (e.g., exploitativeness). Discussion addresses limitations of these cross-culturally universal findings and presents suggestions for future research into revealing the precise psychological features of narcissism that facilitate the strategic pursuit of short-term mating.Estudios previos, en primer lugar a través de las muestras de culturas occidentales, han documentado asociaciones sistemáticas del narcisismo subclínico con múltiples indicadores de estrategias del emparejamiento a corto plazo (p. ej. sociosexualidad ilimitada, infidelidad, caza de pareja). En este estudio se han usado respuestas de la encuesta transcultural de 30.470 personas de 53 naciones de 11 regiones mundiales (América del Norte, América del Sur/América Central, Europa del Norte, Europa del Oeste, Europa del Este, Europa del Sur, Oriente Próximo, África, Asia del Sur/Sudoeste de Asia, Asia del Este y Oceanía) para evaluar si el narcisismo (medido por el Inventario de Personalidad Narcisista; NPI) se asocia panuniversalmente con los indicadores del emparejamiento a corto plazo, tanto en la dirección, como en la intensidad. Los resultados sugieren que el narcisismo (incluidos muchos aspectos suyos medidos por el NPI) tiene las mismas asociaciones básicas con los rasgos de personalidad relacionados con el sexo (p. ej. extraversión alta) y con los resultados sexuales claves (p. ej. búsqueda más activa de las estrategias del emparejamiento a corto plazo) a través de las 11 mayores regiones mundiales del PDSI 2. La discusión se enfoca en las implicaciones y limitaciones del estudio actual

    Evaluation of appendicitis risk prediction models in adults with suspected appendicitis

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    Background Appendicitis is the most common general surgical emergency worldwide, but its diagnosis remains challenging. The aim of this study was to determine whether existing risk prediction models can reliably identify patients presenting to hospital in the UK with acute right iliac fossa (RIF) pain who are at low risk of appendicitis. Methods A systematic search was completed to identify all existing appendicitis risk prediction models. Models were validated using UK data from an international prospective cohort study that captured consecutive patients aged 16–45 years presenting to hospital with acute RIF in March to June 2017. The main outcome was best achievable model specificity (proportion of patients who did not have appendicitis correctly classified as low risk) whilst maintaining a failure rate below 5 per cent (proportion of patients identified as low risk who actually had appendicitis). Results Some 5345 patients across 154 UK hospitals were identified, of which two‐thirds (3613 of 5345, 67·6 per cent) were women. Women were more than twice as likely to undergo surgery with removal of a histologically normal appendix (272 of 964, 28·2 per cent) than men (120 of 993, 12·1 per cent) (relative risk 2·33, 95 per cent c.i. 1·92 to 2·84; P < 0·001). Of 15 validated risk prediction models, the Adult Appendicitis Score performed best (cut‐off score 8 or less, specificity 63·1 per cent, failure rate 3·7 per cent). The Appendicitis Inflammatory Response Score performed best for men (cut‐off score 2 or less, specificity 24·7 per cent, failure rate 2·4 per cent). Conclusion Women in the UK had a disproportionate risk of admission without surgical intervention and had high rates of normal appendicectomy. Risk prediction models to support shared decision‐making by identifying adults in the UK at low risk of appendicitis were identified

    Design av Tjänster : Komplex affärsutveckling över tid och rum

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    Service Design is a relatively new, unexplored and exciting phenomenon that through an interdisciplinary work methodology designs services. A discussion has been going on for a long time regarding whether there is a difference between products and services. Services are often classified as immaterial, heterogeneous, non-storable and inseparable in relation to products. A question that arises is if something specific characterises the work methodology used regarding service design. The aim with this paper is thus to explain the work methodology when working with service design. To find out the differential and describe the work methodology regarding service design a method is used which includes a case of product design. The work methodology regarding three design cases developed by two different design firms is studied, one of which is a product design case and the other two are service design cases. After that parallels are drawn to chosen theories from the fields Service Management, Design Management and Rational/ Irrational work processes. Some of the conclusions that this paper has generated are that there is a strong user focus in both service design and product design. Another conclusion that has been made is that when working with service design it is important to be conscious about the time- and space aspect to gain a total perspective and a thorough user focus.Tjänstedesign är ett relativt nytt, outforskat och spännande fenomen som genom en tvärvetenskaplig arbetsmetodik designar tjänster. Det har länge pågått en diskussion huruvida det är skillnad på tjänster och produkter. Tjänster klassificeras ofta som immateriella, heterogena, icke-lagringsbara och oskiljaktiga i relation till produkter. En fråga som då kan ställas är huruvida arbetmetodiken som används vid tjänstedesign utmärker sig på något sätt. Syftet med denna uppsats är således att beskriva och förklara arbetsmetodiker inom tjänstedesign. Arbetsmetodiken vid tre fall utförda av två olika designbyråer studeras, varav ett är produktdesign och två är tjänstedesign. Sedan dras paralleller mot valda teorier från områdena Service Management, Design Management och Rationella/ Irrationella arbetsprocesser. Några slutsatser som uppsatsen har genererat är att det finns ett starkt användarfokus i såväl produktdesign som tjänstedesign. En annan slutsats som dragits är att inom tjänstedesign är det viktigt att ta hänsyn till tid-och rumsaspekten för att få ett helhetsperspektiv och ett ingående användarfokus

    Design av Tjänster : Komplex affärsutveckling över tid och rum

    No full text
    Service Design is a relatively new, unexplored and exciting phenomenon that through an interdisciplinary work methodology designs services. A discussion has been going on for a long time regarding whether there is a difference between products and services. Services are often classified as immaterial, heterogeneous, non-storable and inseparable in relation to products. A question that arises is if something specific characterises the work methodology used regarding service design. The aim with this paper is thus to explain the work methodology when working with service design. To find out the differential and describe the work methodology regarding service design a method is used which includes a case of product design. The work methodology regarding three design cases developed by two different design firms is studied, one of which is a product design case and the other two are service design cases. After that parallels are drawn to chosen theories from the fields Service Management, Design Management and Rational/ Irrational work processes. Some of the conclusions that this paper has generated are that there is a strong user focus in both service design and product design. Another conclusion that has been made is that when working with service design it is important to be conscious about the time- and space aspect to gain a total perspective and a thorough user focus.Tjänstedesign är ett relativt nytt, outforskat och spännande fenomen som genom en tvärvetenskaplig arbetsmetodik designar tjänster. Det har länge pågått en diskussion huruvida det är skillnad på tjänster och produkter. Tjänster klassificeras ofta som immateriella, heterogena, icke-lagringsbara och oskiljaktiga i relation till produkter. En fråga som då kan ställas är huruvida arbetmetodiken som används vid tjänstedesign utmärker sig på något sätt. Syftet med denna uppsats är således att beskriva och förklara arbetsmetodiker inom tjänstedesign. Arbetsmetodiken vid tre fall utförda av två olika designbyråer studeras, varav ett är produktdesign och två är tjänstedesign. Sedan dras paralleller mot valda teorier från områdena Service Management, Design Management och Rationella/ Irrationella arbetsprocesser. Några slutsatser som uppsatsen har genererat är att det finns ett starkt användarfokus i såväl produktdesign som tjänstedesign. En annan slutsats som dragits är att inom tjänstedesign är det viktigt att ta hänsyn till tid-och rumsaspekten för att få ett helhetsperspektiv och ett ingående användarfokus
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