| 41. |
- Tajsharghi, Homa, 1968, et al.
(författare)
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Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
- 2003
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Ingår i: Annals of neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 54:4, s. 494-500
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Tidskriftsartikel (refereegranskat)abstract
- Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles. Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. The myopathy was characterized by muscle weakness and wasting with onset in childhood and slow progression, but no overt cardiomyopathy. Slow, oxidative, type 1 muscle fibers showed large inclusions consisting of slow/beta-cardiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease.
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| 42. |
- Graham, J, et al.
(författare)
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Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes
- 2002
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Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 51:5, s. 1346-1355
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Tidskriftsartikel (refereegranskat)abstract
- Age-dependent associations between type 1 diabetes risk genes HLA, INS VNTR, and CTLA-4 and autoantibodies to GAD65 (GADAs), ICA512/IA-2, insulin, and islet cells were determined by logistic regression analysis in 971 incident patients with type 1 diabetes and 702 control subjects aged 0–34 years. GADAs were associated with HLA-DQ2 in young but not in older patients (P = 0.009). Autoantibodies to insulin were negatively associated with age (P < 0.0001) but positively associated with DQ8 (P = 0.03) and with INS VNTR (P = 0.04), supporting possible immune tolerance induction. ICA512/IA-2 were negatively associated with age (P < 0.0001) and with DQ2 (P < 0.0001) but positively associated with DQ8 (P = 0.04). Males were more likely than females to be negative for GADA (P < 0.0001), autoantibodies to islet cells (P = 0.04), and all four autoantibody markers (P = 0.004). The CTLA-4 3′ end microsatellite marker was not associated with any of the autoantibodies. We conclude that age and genetic factors such as HLA-DQ and INS VNTR need to be combined with islet autoantibody markers when evaluating the risk for type 1 diabetes development.
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| 43. |
- Aberg, P., et al.
(författare)
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Skin cancer identification using multifrequency electrical impedance - A potential screening tool
- 2004
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Ingår i: IEEE Transactions on Biomedical Engineering. - 0018-9294 .- 1558-2531. ; 51:12, s. 2097-2102
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Tidskriftsartikel (refereegranskat)abstract
- Electrical bio-impedance can be used to assess skin cancers and other cutaneous lesions. The aim of this study was to distinguish skin cancer from benign nevi using multifrequency impedance spectra. Electrical impedance spectra of about 100 skin cancers and 511 benign nevi were measured. Impedance of reference skin was measured ipsi-laterally to the lesions. The impedance relation between lesion and reference skin was used to distinguish the cancers from the nevi. It was found that it is possible to separate malignant melanoma from benign nevi with 75% specificity at 100% sensitivity, and to distinguish nonmelanoma skin cancer from benign nevi with 87% specificity at 100% sensitivity. The power of skin cancer detection using electrical impedance is as good as, or better than, conventional visual screening made by general practitioners.
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| 44. |
- Aberg, P., et al.
(författare)
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Variation of skin properties within human forearms demonstrated by non-invasive detection and multi-way analysis
- 2002
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Ingår i: Skin research and technology. - : Wiley. - 0909-752X .- 1600-0846. ; 8:3, s. 194-201
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Tidskriftsartikel (refereegranskat)abstract
- Background: It is known that the properties of human skin vary locally. The purpose of this study was to investigate the properties of human volar forearms even further using advanced non-invasive techniques and numerical methods. Methods: The skin properties of human volar forearms were investigated using measurements of trans epidermal water loss and multifrequency electrical impedance. Eight sites on the forearms of 27 healthy volunteers were measured. The sites were oriented as squares, four sites on both left and right forearm, approximately 40-50 mm apart. Results: Analysis of variance showed significant differences for epidermal water loss (P < 0.01) and the skin impedance (P < 0.001) between the inner and outer sides of the arms. Additionally, parallel factor analysis of the full skin impedance spectra also showed that there are systematic differences between right and left arm (P < 0.01). Conclusions: It is crucial to design skin studies carefully in order to minimise the effects of the local skin properties of human skin.
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| 45. |
- Annus, T, et al.
(författare)
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Wheezing in relation to atopy and environmental factors in Estonian and Swedish schoolchildren
- 2001
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Ingår i: Clinical and Experimental Allergy. - : Wiley. - 0954-7894 .- 1365-2222. ; 31:12, s. 1846-1853
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Tidskriftsartikel (refereegranskat)abstract
- Background: The prevalence of asthma and allergic diseases is significantly lower in post socialist Eastern Europe than in Western industrialized countries. The reason for this difference is largely unknown. Different types of childhood wheezing could be related to different risk factors. Objective: To compare the prevalence of respiratory symptoms, asthma and atopic diseases among Estonian and Swedish schoolchildren and to evaluate characteristics for wheezing in the two countries. Methods: In a prevalence study, population-based random samples of 10-11-year-old schoolchildren in Tallinn (n = 979), Estonia and in Link÷ping (n = 911) and ╓stersund (n = 1197), Sweden were studied by a parental questionnaire and skin prick tests (SPT). All 275 children with wheeze in the past 12 months and 710 randomly selected controls within the original cohorts were invited to a case-control study involving a parental questionnaire, examination for flexural dermatitis and bronchial challenge with hypertonic saline. The study adhered to the International Study of Asthma and Allergies in Childhood (ISAAC) Phase II protocol. Results: The prevalence of current wheezing was similar (8-10%) in the three centres, while diagnosed asthma and atopic symptoms were more common in Sweden and cold-related respiratory symptoms were more prevalent in Estonia. Frequent wheezing was more common in Sweden than in Estonia (but significantly so only in ╓stersund). Wheezing children in Sweden had a high rate of positive SPT (49% in Link÷ping and 58% in ╓stersund) bronchial hyper-responsiveness (BHR) (48% in Link÷ping and ╓stersund) and anti-asthmatic treatment (63% in Link÷ping and 81% in ╓stersund). In Estonia, the proportion of wheezing children with positive SPT, BHR and anti-asthmatic treatment was only 26%, 13% and 17%, respectively. Domestic crowding was inversely related to wheezing in one of the study areas (╓stersund). The mean baseline forced expiratory volume in one second (FEV1) was higher in Estonia than in Sweden, both in wheezing and non-wheezing children. Conclusions: Our study suggested that although wheezing symptoms were equally common in Estonia and Sweden, they were less severe in Estonia. More frequent symptoms and a high rate of atopy, BHR and anti-asthmatic medication characterized wheezing children in Sweden. In contrast, BHR, atopy and medication were uncommon among wheezing children in Estonia.
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| 46. |
- Augutis, M, et al.
(författare)
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Pediatric spinal cord injury in Sweden : incidence, etiology and outcome.
- 2003
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Ingår i: Spinal Cord. - : Springer Science and Business Media LLC. - 1362-4393 .- 1476-5624. ; 41:6, s. 328-36
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Tidskriftsartikel (refereegranskat)abstract
- STUDY DESIGN: Retrospective descriptive study.OBJECTIVES: To assess incidence, causes and early outcome of traumatic spinal cord injury (SCI) among children in Sweden, thereby identifying high-risk groups and situations as a basis for preventative measures and improved care.METHODS: Data from population registers, County Habilitation Centers as well as from informal sources were used to estimate the incidence of SCI in Sweden during the years 1985-1996 among children aged 0-15 years. Contacts with the treating hospitals, reviews of medical records and/or personal interviews were used to verify primary data. In total, 92 children were thus identified.RESULTS: The incidence was found to be 4.6/million children/year (95% CI 3.6-5.5). When excluding prehospital fatalities, the incidence was 2.4 (95% CI 1.8-3.1). The main cause of injury among fatalities was traffic accidents. Associated injuries occurred in 41% of the children. Among survivors (10-15 years), sports-related injuries (43%) were as common a cause as traffic accidents (39%). The survivors were treated in 18 different hospitals.CONCLUSION: Pediatric SCI in Sweden is rare, presumably because of effective primary prevention. Preventative measures should be further differentiated for each age group of children in accordance with their differing risk profiles. In contrast to the effective preventative measures that have been implemented in Sweden, care of these patients is still too fractionated and decentralized for sufficient specialization to emerge.
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| 47. |
- Augutis, M, et al.
(författare)
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Pediatric spinal cord injury in Sweden; how to identify a cohort of rare events.
- 2003
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Ingår i: Spinal Cord. - : Springer Science and Business Media LLC. - 1362-4393 .- 1476-5624. ; 41:6, s. 337-46
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Tidskriftsartikel (refereegranskat)abstract
- STUDY DESIGN: Register study enhanced and verified by medical records and personal interviews and examinations.SETTINGS: Sweden.OBJECTIVES: To define a method of identifying a study population of rare events. To point out the relative importance of every step, an example is given of identifying persons who sustained traumatic spinal cord injury (SCI) in childhood.METHODS: Cases were identified in seven steps that all needed to be fulfilled, from definition of selection criteria through combination of several data sources, to the use of several verification methods.RESULTS: Initial screening by registers identified 384 possible cases, which however were found by subsequent analysis to include a large number of incorrect cases. At completion of all analytic steps, 35 living cases could be fully verified and 14 deceased cases could be partially verified.CONCLUSIONS: Registers offer a practical initial source for study population identification. The screening of International Classification of Diseases codes defining SCI only included less than 30% of 'true' SCIs. Subsequently, further refinement and quality control is necessary in order to ensure validity. Such further verification is time-consuming, but nevertheless necessary in order to verify a true cohort.
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| 48. |
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| 49. |
- Bråbäck, Lennart, et al.
(författare)
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Atopy among schoolchildren in northern and southern Sweden in relation to pet ownership and early life events
- 2001
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Ingår i: Pediatric Allergy and Immunology. - : Wiley. - 0905-6157 .- 1399-3038. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Studies have suggested a higher prevalence of asthma and allergies in northern, as compared to southern. Scandinavia. The aim of this study was to evaluate regional differences in atopy in relation to pet ownership and certain early life events among schoolchildren. (n=2108) aged 10-11 years from Link÷ping in southern Sweden and ╓stersund in northern Sweden. The parents completed a questionnaire, comprising questions on home environment, heredity, socio-economic conditions, and the core questions on symptoms from the International Study of Asthma and Allergies in Childhood. The children were skin-prick tested to eight common inhalant allergens. Information on maternal smoking habits, gestational age, and anthropometric measures were obtained from the Swedish Medical Birth Registry. The prevalence of atopic symptoms and sensitization to pollen were similar in ╓stersund and in Link÷ping. A higher prevalence of sensitization to animal dander among children in ╓stersund could be linked to a higher occurrence of pets in the community. Current cat ownership was related to less sensitivity to cat allergen but only in children with an atopic heredity. Ponderal index >30 kg/m3 was related to an increased risk of atopic sensitization, both in Link÷ping (adjusted odds ratio 2.1, 95% confidence interval 1.1-4.0) and in ╓stersund (adjusted odds ratio 2.0, 95% confidence interval 1.1-3.5). Maternal smoking during pregnancy was related to an increased risk of atopic sensitization among children in Link÷ping, whereas current smoking was associated with a decreased risk of sensitization in -stersund. In conclusion, we demonstrated that a high occurrence of pets in the community was associated with sensitization, whereas atopic symptoms were essentially unaffected. This study has also suggested an association between body size at birth and atopic sensitization at 10-11 years of age.
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| 50. |
- Budh Norrbrink, Cecilia, et al.
(författare)
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Pain in a Swedish spinal cord injury population
- 2003
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Ingår i: Clinical Rehabilitation. - : SAGE Publications. - 0269-2155 .- 1477-0873. ; 17:6, s. 685-690
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To describe pain and associated variables in a prevalence group of persons with a sustained spinal cord injury (SCI) in the Swedish capital and its surroundings. Setting: Spinalis SCI Unit (outpatient clinic), Stockholm, Sweden. Design: Assessment over a 12-month period in a yearly health control. Subjects: Four hundred and fifty-six SCI patients. Results: Two hundred and ninety-one out of 456 SCI patients (63.7%) suffered from pain, and in 45.7% of these it was classified as being neurogenic. Aching pain was the most used descriptor (38.5%). The onset of pain was commonly within three months (73.5%). In 70.4% of patients pain occurred below the level of the lesion. Most patients identified pain as coming from one (55.0%) or two (28.2%) body regions. Rating of the general pain intensity on a visual analogue scale (VAS) was 46 out of 100 and rating of the worst pain intensity was 78 out of 100. Ninety-four out of 276 patients (32.3%) considered that their quality of life was significantly affected by pain. Conclusion: Pain was most common in patients with incomplete lesions (ASIA impairment grade D) and there was a correlation between pain and higher mean age at injury and between pain and female gender.
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