| 1. |
|
|
| 2. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 3. |
- Bravo, L, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 4. |
|
|
| 5. |
- Glasbey, JC, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 6. |
- Pfaller, M.A., et al.
(författare)
-
Twelve years of fluconazole in clinical practice : Global-trends in species distribution and fluconazole susceptibility of bloodstream isolates of Candida
- 2004
-
Ingår i: Clinical Microbiology and Infection. - : Elsevier BV. - 1198-743X .- 1469-0691. ; 10:SUPPL. 1, s. 11-23
-
Tidskriftsartikel (refereegranskat)abstract
- We determined the species distribution and in-vitro susceptibility of 6082 bloodstream infection (BSI) isolates of Candida spp. collected from 250 medical centres in 32 nations over a 10-year period from 1992 through 2001. The species included 3401 C. albicans, 984 C. glabrata, 796 C. parapsilosis, 585 C. tropicalis, 153 C. krusei, 67 C. lusitaniae, 48 C. guilliermondii, 10 C. famata, 10 C. kefyr, six C. pelliculosa, five C. rugosa, four C. lipolytica, three C. dubliniensis, three C. inconspicua, two C. sake and one isolate each of C. lambica, C. norvegensis and C. zeylanoides. Minimum inhibitory concentration determinations were made using the National Committee for Clinical Laboratory Standards reference broth microdilution method. Variation in the rank order and frequency of the different species of Candida was observed over time and by geographic area. The proportion of BSI due to C. albicans and C. glabrata increased and C. parapsilosis decreased over time in Canada, the USA and Europe. C. glabrata was an infrequent cause of BSI in Latin America and the Asia-Pacific region. Very little variation in fluconazole susceptibility was observed among isolates of C. albicans, C. tropicalis and C. parapsilosis. These species accounted for 78% of all BSI and remained highly susceptible (91-100% susceptible) to fluconazole from 1992 to 2001 irrespective of geographic origin. The prevalence of fluconazole resistance among C. glabrata isolates was variable both over time and among the various countries and regions. Resistance to fluconazole among C. glabrata isolates was greatest in the USA and varied by US census region (range 0-23%). These observations are generally encouraging relative to the sustained usefulness of fluconazole as a systemically active antifungal agent for the treatment of candida BSI. © 2004 Copyright by the European Society of Clinical Microbiology and Infectious Diseases.
|
|
| 7. |
- Ericsson, H., et al.
(författare)
-
Division into five groups by REA of the most frequently isolated phagovar of Listeria monocytogenes in Sweden 1976–1985
- 1996
-
Ingår i: Medical Microbiology Letters. - : Birkhäuser Verlag. - 1018-4627. ; 5:3, s. 145-155
-
Tidskriftsartikel (refereegranskat)abstract
- One hundred and seven strains of Listeria monocytogenes isolated from human cases of listeriosis in Sweden during 1976-1985 were investigated. Sero- and phagetyping showed that 74 strains (69%) belonged to serovar 4b and that 47 of these strains also shared phagovar 2389:2425:3274:2671:47:108:340. Strains sharing this phagovar were further analyzed by REA, and could accordingly be arranged into five REA groups. However, the majority of the 47 strains were distributed in two of the groups. This indicates that two clones of L. monocytogenes were responsible for a major part of the human cases of listeriosis in Sweden during the ten-year period studied.
|
|
| 8. |
|
|
| 9. |
- De Leo, D, et al.
(författare)
-
Attempted and completed suicide in older subjects : results from the WHO/EURO Multicentre Study of Suicidal Behaviour.
- 2001
-
Ingår i: International Journal of Geriatric Psychiatry. - : Wiley. - 0885-6230 .- 1099-1166. ; 16:3, s. 300-10
-
Tidskriftsartikel (refereegranskat)abstract
- Stockholm (Sweden), Pontoise (France) and Oxford (UK) had the highest suicide attempts rates. In most centres, the majority of elderly who attempted suicide were widow(er)s, often living alone, who used predominantly voluntary drug ingestion. Non-fatal suicidal behaviour decreased with increasing age, whereas suicide rates rose. The ratio between fatal and non-fatal behaviours was 1:2, that for males/females almost 1:1. In the years considered, substantial stability in suicide and attempted suicide rates was observed. As their age increased, suicidal subjects displayed only a limited tendency to repeat self-destructive acts. Moreover, there was little correlation between attempted suicide and suicide rates, which carries different clinical implications for non-fatal suicidal behaviour in the elderly compared with younger subjects in the same WHO/EURO study.
|
|
| 10. |
|
|
| 11. |
- De Leo, D, et al.
(författare)
-
Repetition of suicidal behaviour in elderly Europeans : a prospective longitudinal study.
- 2002
-
Ingår i: Journal of Affective Disorders. - 0165-0327 .- 1573-2517. ; 72:3, s. 291-5
-
Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to assess any predictive factors for repeated attempted suicide and completed suicide in a 1-year follow-up on a sample of elderly European suicide attempters (60 years and over). From 1990 to 1993, 63 subjects completed the first interview and were recontacted after 1 year. At follow-up, eight subjects (12.7%) had taken their lives and seven (11.1%) had repeated at least one suicide attempt. On comparison of repeaters and non-repeaters, differences emerged in terms of death of the father in childhood and for mean Suicidal Intent Score. At the end of follow-up period, repeaters reported a more frequent desire to repeat suicidal behaviour and judged their mental health and social assistance received to be worse. Suicides and non-repeaters differed especially in relation to death of father during childhood and number of contacts with General Practitioner. Interpretation of the results must take into account the smallness of the test sample, the difficulties in obtaining complete data for the follow-up interview, the lack of a control group and a diagnosis formulated in a hospital consultation setting. The study confirms, however, the high risk of repetition of suicidal behaviour in the elderly. In old age suicidal ideation is often sustained over long periods of time and requests for help are addressed to relatives and GPs. An interesting finding is the more frequent death of the father during childhood among repeaters.
|
|
| 12. |
- Hendrickx, Jan-Jaap, et al.
(författare)
-
Familial aggregation of pure tone hearing thresholds in an aging European population
- 2013
-
Ingår i: Otology and Neurotology. - : Lippincott Williams & Wilkins. - 1531-7129 .- 1537-4505. ; 34:5, s. 838-844
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated.STUDY DESIGN: Multicenter survey in 8 European centers.SUBJECTS: One hundred ninety-eight families consisting of 952 family members, screened by otologic examination and structured interviews. Subjects with general conditions, known to affect hearing thresholds or known otologic cause were excluded from the study.RESULTS: We detected familial correlation coefficients of 0.36, 0.37, 0.36, and 0.30 for 0.25, 0.5, 1, and 2 kHz, respectively, and correlation coefficients of 0.20 and 0.18 for 4 and 8 kHz, respectively. Variance components analyses showed that the proportion of the total variance attributable to family differences was between 0.32 and 0.40 for 0.25, 0.5, 1, and 2 kHz and below 0.20 for 4 and 8 kHz. When testing for homogeneity between sib pair types, we observed a larger familial correlation between female than male subjects. Heritability estimates ranged between 0.79 and 0.36 across the frequencies.DISCUSSION: Our results indicate that there is a substantial shared familial effect in ARHI. We found that familial aggregation of ARHI is markedly higher in the low frequencies and that there is a trend toward higher familial aggregation in female compared with male subjects.
|
|
| 13. |
|
|
| 14. |
- Kumar Maroju, Praveen, et al.
(författare)
-
Attosecond pulse shaping using a seeded free-electron laser
- 2020
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 578, s. 386-391
-
Tidskriftsartikel (refereegranskat)abstract
- Attosecond pulses are central to the investigation of valence- and core-electron dynamics on their natural timescales. The reproducible generation and characterization of attosecond waveforms has been demonstrated so far only through the process of high-order harmonic generation. Several methods for shaping attosecond waveforms have been proposed, including the use of metallic filters, multilayer mirrors and manipulation of the driving field. However, none of these approaches allows the flexible manipulation of the temporal characteristics of the attosecond waveforms, and they suffer from the low conversion efficiency of the high-order harmonic generation process. Free-electron lasers, by contrast, deliver femtosecond, extreme-ultraviolet and X-ray pulses with energies ranging from tens of microjoules to a few millijoules. Recent experiments have shown that they can generate subfemtosecond spikes, but with temporal characteristics that change shot-to-shot. Here we report reproducible generation of high-energy (microjoule level) attosecond waveforms using a seeded free-electron laser. We demonstrate amplitude and phase manipulation of the harmonic components of an attosecond pulse train in combination with an approach for its temporal reconstruction. The results presented here open the way to performing attosecond time-resolved experiments with free-electron lasers.
|
|
| 15. |
- Maroju, Praveen K., et al.
(författare)
-
A Novel Attosecond Timing Tool for Free-Electron Laser Experiment
- 2020
-
Ingår i: High Intensity Lasers and High Field Phenomena 2020. - 9781943580736
-
Konferensbidrag (refereegranskat)abstract
- We demonstrate a novel timing tool for Free-Electron Lasers to determine the delay between an attosecond pulse train and infrared pulse with sub-optical-cycle resolu-. tion.
|
|
| 16. |
- Schmidtke, A, et al.
(författare)
-
Attempted suicide in Europe : rates, trends and sociodemographic characteristics of suicide attempters during the period 1989-1992. Results of the WHO/EURO Multicentre Study on Parasuicide.
- 1996
-
Ingår i: Acta Psychiatrica Scandinavica. - : Wiley. - 0001-690X .- 1600-0447. ; 93:5, s. 327-38
-
Tidskriftsartikel (refereegranskat)abstract
- The World Health Organization/EURO Multicentre Project on Parasuicide is part of the action to implement target 12 of the WHO programme, "Health for All by the Year 2000', for the European region. Sixteen centres in 13 European countries are participating in the monitoring aspect of the project, in which trends in the epidemiology of suicide attempts are assessed. The highest average male age-standardized rate of suicide attempts was found for Helsinki, Finland (314/100,000), and the lowest rate (45/100,000) was for Guipuzcoa, Spain, representing a sevenfold difference. The highest average female age-standardized rate was found for Cergy-Pontoise, France (462/100,000), and the lowest (69/100,000) again for Guipuzcoa, Spain. With only one exception (Helsinki), the person-based suicide attempt rates were higher among women than among men. In the majority of centres, the highest person-based rates were found in the younger age groups. The rates among people aged 55 years or over were generally the lowest. For the majority of the centres, the rates for individuals aged 15 years or over decreased between 1989 and 1992. The methods used were primarily "soft' (poisoning) or cutting. More than 50% of the suicide attempters made more than one attempt, and nearly 20% of the second attempts were made within 12 months after the first attempt. Compared with the general population, suicide attempters more often belong to the social categories associated with social destabilization and poverty.
|
|
| 17. |
|
|
| 18. |
- Bille-Brahe, U, et al.
(författare)
-
A repetition-prediction study of European parasuicide populations : a summary of the first report from part II of the WHO/EURO Multicentre Study on Parasuicide in co-operation with the EC concerted action on attempted suicide.
- 1997
-
Ingår i: Acta Psychiatrica Scandinavica. - : Wiley. - 0001-690X .- 1600-0447. ; 95:2, s. 81-6
-
Tidskriftsartikel (refereegranskat)abstract
- One of the aims of the European Study on Parasuicide, which was initiated by the Regional Office for the European Region of the World Health Organization in the mid-1980s, was to try to identify social and personal characteristics that are predictive of future suicidal behaviour. A follow-up interview study (the Repetition-Prediction Study) was designed, and to date 1145 first-wave interviews have been conducted at nine research centres, representing seven European countries. The present paper provides an abridged version of the first report from the study. The design and the instrument used (The European Parasuicide Study Interview Schedules, EPSIS I and II) are described. Some basic characteristics of the samples from the various centres, such as sex, age, method of suicide attempt, and history of previous attempts, are presented and compared. The male/female sex ratio ranged from 0.41 to 0.85; the mean age range for men was 33-45 years and that for women was 29-45 years. At all of the centres, self-poisoning was the most frequently employed method. On average, more than 50% of all respondents had attempted suicide at least once previously. The representativeness of the samples is discussed. There were differences between the centres in several respects, and also in some cases the representativeness of the different samples varied. Results obtained from analyses based on pooled data should therefore be treated with caution.
|
|
| 19. |
- Bille-Brahe, U, et al.
(författare)
-
A repetition-prediction study on European parasuicide populations. Part II of the WHO/Euro Multicentre Study on Parasuicide in cooperation with the EC Concerted Action on Attempted Suicide.
- 1996
-
Ingår i: Crisis. - 0227-5910 .- 2151-2396. ; 17:1, s. 22-31
-
Tidskriftsartikel (refereegranskat)abstract
- One of the aims of the inter-European study on parasuicide, which was initiated by WHO/Euro in the mid-1980s, was to try and identify social and personal characteristics predictive of future suicidal behavior. A follow-up interview study (the Repetition-Prediction Study) was designed, and so far 1145 interviews have been carried out at nine research centers, representing seven European countries. The study and the instrument used (the European Parasuicide Study Interview Schedules, EPSIS I and II) are described here. Some basic characteristics of the material from the various centers are presented and compared, and the representativeness of the samples are discussed. There were differences between the centers in several respects. Results from analyses based on pooled data have to be treated with some caution because of the possible lack of representativeness.
|
|
| 20. |
- Bille-Brahe, U, et al.
(författare)
-
Social support among European suicide attempters
- 1999
-
Ingår i: ARCHIVES OF SUICIDE RESEARCH. - : Informa UK Limited. - 1381-1118 .- 1543-6136. ; 5:3, s. 215-231
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 21. |
- Bille-Brahe, U, et al.
(författare)
-
The WHO-EURO Multicentre Study : risk of parasuicide and the comparability of the areas under study.
- 1996
-
Ingår i: Crisis. - 0227-5910 .- 2151-2396. ; 17:1, s. 32-42
-
Tidskriftsartikel (refereegranskat)abstract
- The 15 areas under study in the WHO/Euro Multicentre Study on Parasuicide vary considerably with regard to socio-economic factors, culture, life-styles, etc. In this paper, the authors discuss whether the traditional high risk factors for suicidal behavior (such as unemployment, abuse, divorce, etc.) take on different weights depending on local societal and cultural settings. Results from analyzing covariations between various background factors characteristic of the different areas under study and the frequency of attempted suicide showed weak or insignificant correlations, indicating that high-risk factors can only be identified from international pooled data with great care.
|
|
| 22. |
|
|
| 23. |
|
|
| 24. |
|
|
| 25. |
- Huyghe, Jeroen R., et al.
(författare)
-
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
- 2008
-
Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 83:3, s. 401-407
-
Tidskriftsartikel (refereegranskat)abstract
- Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-sectional family-based genetic study employing audiometric data. By using principal component analysis, we were able to reduce the dimensionality of this multivariate phenotype while capturing most of the variation and retaining biologically important features of the audiograms. We conducted a genome-wide association as well as a linkage scan with high-density SNP microarrays. Because of the presence of genetic population substructure, association testing was stratified after which evidence was combined by meta-analysis. No association signals reaching genome-wide significance were detected. Linkage analysis identified a linkage peak on 8q24.13-q24.22 for a trait correlated to audiogram shape. The signal reached genome-wide significance, as assessed by simulations. This finding represents the first locus for an ARHI trait.
|
|
| 26. |
|
|
| 27. |
- Lizatovic, Robert, et al.
(författare)
-
A Protein-Based Encapsulation System with Calcium-Controlled Cargo Loading and Detachment
- 2018
-
Ingår i: Angewandte Chemie International Edition. - : Wiley-VCH Verlagsgesellschaft. - 1433-7851 .- 1521-3773. ; 57:35, s. 11334-11338
-
Tidskriftsartikel (refereegranskat)abstract
- Protein-based encapsulation systems have a wide spectrum of applications in targeted delivery of cargo molecules and for chemical transformations in confined spaces. By engineering affinity between cargo and container proteins it has been possible to enable the efficient and specific encapsulation of target molecules. Missing in current approaches is the ability to turn off the interaction after encapsulation to enable the cargo to freely diffuse in the lumen of the container. Separation between cargo and container is desirable in drug delivery applications and in the use of capsids as catalytic nanoparticles. We describe an encapsulation system based on the hepatitisB virus capsid in which an engineered high-affinity interaction between cargo and capsid proteins can be modulated by Ca2+. Cargo proteins are loaded into capsids in the presence of Ca2+, while ligand removal triggers unbinding inside the container. We observe that confinement leads to hindered rotation of cargo inside the capsid. Application of the designed container for catalysis was also demonstrated by encapsulation of an enzyme with beta-glucosidase activity.
|
|
| 28. |
- Madsen, O D, et al.
(författare)
-
A two-colour immunofluorescence test with a monoclonal human proinsulin antibody improves the assay for islet cell antibodies
- 1986
-
Ingår i: Diabetologia. - : Springer-Verlag New York. - 0012-186X .- 1432-0428. ; 29:2, s. 8-115
-
Tidskriftsartikel (refereegranskat)abstract
- The conventional indirect immunofluorescence assay for islet cell antibodies was compared with a two-colour immunofluorescent assay to detect both islet cell antibodies with fluorescein isothiocyanate-labeled rabbit anti-human IgG and pancreatic B cells with a monoclonal human proinsulin antibody and Texas red-labeled sheep anti-mouse IgG. Determinations of end-point titres showed a correlation between the new two-colour immunofluorescent assay and the conventional indirect immunofluorescent assay in 1) selected sera positive for islet cell antibodies and insulin autoantibodies rs = 0.93 (p less than 0.01) or for islet cell antibodies alone rs = 0.99 (p less than 0.005) and 2) sera from children or young adults with newly diagnosed Type 1 (insulin-dependent) diabetes rs = 0.95 (p less than 0.0001). No interference between the monoclonal human proinsulin antibodies and islet cell antibodies with or without insulin autoantibodies or between the two second fluorescent antibodies was detected. It is concluded that the two-colour immunofluorescence assay is advantageous since it is possible to mix the reagents to avoid a more time-consuming and technically complicated assay, the presence of B cells can be confirmed in each section to permit detection of B cell cytoplasmic antibodies and microscopic evaluation is easier and more accurate, particularly in islet cell antibody negative samples.
|
|
| 29. |
- McAuliffe, Carmel, et al.
(författare)
-
Problem-solving ability and repetition of deliberate self-harm : a multicentre study.
- 2006
-
Ingår i: Psychological Medicine. - : Cambridge University Press. - 0033-2917 .- 1469-8978. ; 36:1, s. 45-55
-
Tidskriftsartikel (refereegranskat)abstract
- Background. While recent studies have found problem-solving impairments in individuals who engage in deliberate self-harm (DSH), few studies have examined repeaters and non-repeaters separately. The aim of the present study was to investigate whether specific types of problem-solving are associated with repeated DSH. Method. As part of the WHO/EURO Multicentre Study on Suicidal Behaviour, 836 medically treated DSH patients (59% repeaters) from 12 European regions were interviewed using the European Parasuicide Study Interview Schedule (EPSIS II) approximately 1 year after their index episode. The Utrecht Coping List (UCL) assessed habitual responses to problems. Results. Factor analysis identified five dimensions – Active Handling, Passive-Avoidance, Problem Sharing, Palliative Reactions and Negative Expression. Passive-Avoidance – characterized by a pre-occupation with problems, feeling unable to do anything, worrying about the past and taking a gloomy view of the situation, a greater likelihood of giving in so as to avoid difficult situations, the tendency to resign oneself to the situation, and to try to avoid problems – was the problem-solving dimension most strongly associated with repetition, although this association was attenuated by self-esteem. Conclusions. The outcomes of the study indicate that treatments for DSH patients with repeated episodes should include problem-solving interventions. The observed passivity and avoidance of problems (coupled with low self-esteem) associated with repetition suggests that intensive therapeutic input and follow-up are required for those with repeated DSH.
|
|
| 30. |
- Michel, K, et al.
(författare)
-
Methods used for parasuicide : results of the WHO/EURO Multicentre Study on Parasuicide.
- 2000
-
Ingår i: Social Psychiatry and Psychiatric Epidemiology. - : Springer Science and Business Media LLC. - 0933-7954 .- 1433-9285. ; 35:4, s. 156-63
-
Tidskriftsartikel (refereegranskat)abstract
- There is a need, especially for areas with high frequencies for certain methods, to understand the factors involved and to develop new and specific prevention projects and to monitor their effects. The WHO/EURO Multicentre Study on Parasuicide has proved to be a useful and reliable instrument for continuous monitoring of trends in parasuicide.
|
|
| 31. |
|
|
| 32. |
- Schmidtke, A, et al.
(författare)
-
Suicide rates in the world: Update
- 1999
-
Ingår i: ARCHIVES OF SUICIDE RESEARCH. - : Informa UK Limited. - 1381-1118 .- 1543-6136. ; 5:1, s. 81-89
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 33. |
- Tranebjærg, Lisbeth, et al.
(författare)
-
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
- 2018
-
Ingår i: Human Genetics. - : Springer. - 0340-6717 .- 1432-1203. ; 137:2, s. 111-127
-
Tidskriftsartikel (refereegranskat)abstract
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN). All patients were clinically suspected of CAPOS and had hearing problems. In this retrospective analysis of audiological data, we show for the first time that cochlear outer hair cell activity was preserved as shown by the presence of otoacoustic emissions and cochlear microphonic potentials, but the auditory brainstem responses were grossly abnormal, likely reflecting neural dyssynchrony. Poor speech perception was observed, especially in noise, which was beyond the hearing level obtained in the pure tone audiograms in several of the patients presented here. Molecular modelling and in vitro electrophysiological studies of the specific CAPOS mutation were performed. Heterologous expression studies of α3 with the p.Glu818Lys mutation affects sodium binding to, and release from, the sodium-specific site in the pump, the third ion-binding site. Molecular dynamics simulations confirm that the structure of the C-terminal region is affected. In conclusion, we demonstrate for the first time evidence for auditory neuropathy in CAPOS syndrome, which may reflect impaired propagation of electrical impulses along the spiral ganglion neurons. This has implications for diagnosis and patient management. Auditory neuropathy is difficult to treat with conventional hearing aids, but preliminary improvement in speech perception in some patients suggests that cochlear implantation may be effective in CAPOS patients.
|
|
| 34. |
|
|
| 35. |
- Van Laer, Lut, et al.
(författare)
-
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
- 2008
-
Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 17:2, s. 159-169
-
Tidskriftsartikel (refereegranskat)abstract
- Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.
|
|
| 36. |
- Wasserman, D, et al.
(författare)
-
Parasuicide in the Nordic countries.
- 1994
-
Ingår i: Scandinavian journal of social medicine. - 0300-8037. ; 22:3, s. 170-7
-
Tidskriftsartikel (refereegranskat)abstract
- This article gives an account of some findings of the WHO/EURO multicentre study on parasuicide from the five Nordic centres: Helsinki (Finland), Stockholm (Sweden), and the countries of Funen (Denmark), Sø-Trøndelag (Norway) and Västerbotten (Sweden). For parasuicide patients treated in hospital in these five Nordic centres, the parasuicide rates per 100,000 inhabitants per annum were 222 for women, 213 for men and 224 for both sexes combined. In all the Nordic centres except Helsinki, women had higher parasuicide rates than men. The female/male parasuicide ratio was 1.16 for all Nordic centres. The highest parasuicide rates in the whole material were found in Helsinki, Stockholm and Funen, and the lowest in Sør-Trøndelag and Västerbotten. The highest parasuicide rates lay in the 30-39 age interval, i.e. the peak of parasuicide rates was in older age groups than previously reported. Single people, especially divorcees and those who have never been married, constitute a high-risk group in both sexes. The risk of parasuicide for single men is three times that for married men in all the Nordic centres except Sør-Trøndelag, where the risk is five times higher. The parasuicide risk for single women is twice as high as for married women except for women in Funen, where the risk for single and married women is almost equal. Exceptionally high parasuicide rates are also reported for Finnish citizens in Sweden, compared with Finns from the Helsinki centre. Parasuicide rates appear to be correlated with population density, since the densely populated areas of Helsinki, Stockholm and Funen evince higher parasuicide rates than the sparsely populated areas of Sør-Trøndelag and Västerbotten.
|
|
