| 1. |
- Einarsdottir, Elisabet, et al.
(författare)
-
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
- 2004
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 13:8, s. 799-805
-
Tidskriftsartikel (refereegranskat)abstract
- Identification of genes associated with pain insensitivity syndromes can increase the understanding of the pathways involved in pain and contribute to the understanding of how sensory pathways relate to other neurological functions. In this report we describe the mapping and identification of the gene responsible for loss of deep pain perception in a large family from northern Sweden. The loss of pain perception in this family is characterized by impairment in the sensing of deep pain and temperature but with normal mental abilities and with most other neurological responses intact. A severe reduction of unmyelinated nerve fibers and a moderate loss of thin myelinated nerve fibers are observed in the patients. Thus the cases in this study fall into the class of patients with loss of pain perception with underlying peripheral neuropathy. Clinically they best fit into HSAN V. Using a model of recessive inheritance we identified an 8.3 Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of functional candidate genes in the disease critical region revealed a mutation in the coding region of the nerve growth-factor beta (NGFB) gene specific for the disease haplotype. This NGF mutation seems to separate the effects of NGF involved in development of central nervous system functions such as mental abilities, from those involved in peripheral pain pathways. This mutation could therefore potentially provide an important tool to study different roles of NGF, and of pain control.
|
|
| 2. |
- Einarsdottir, Elisabet, et al.
(författare)
-
The CTLA4 region as a general autoimmunity factor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease
- 2003
-
Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 11:1, s. 81-84
-
Tidskriftsartikel (refereegranskat)abstract
- We have identified a large family in the northern part of Sweden with multiple cases of autoimmune diseases, namely type 1 diabetes (T1D), Graves' disease (GD) and Hashimoto's thyroiditis (HT). The family members affected by any of these diseases share a region of 2.4 Mb that comprises among others the CTLA4 gene. We determined that all affected members of the family shared the HLA susceptibility haplotype (DR4-DQA1*0301-DQB1*0302). Analysis of genetic interaction conditioning for HLA haplotype provided strong evidence that the critical region which includes the CTLA4 gene acts together with the HLA locus on the etiology of disease (lodscore 4.20 (theta=0.0). The study of this family allowed us to: (1) reinforce a number of reports on linkage and association of the CTLA4 region to T1D and AITD; (2) demonstrate that a single haplotypic variant in this region constitutes an etiological factor to disease susceptibility in T1D, GD and HT; (3) reveal a strong genetic interaction of the CTLA4 and HLA loci in the genetic architecture of autoimmune disease; (4) emphasise the value of large pedigrees drawn from isolated populations as tools to single out the effect of individual loci in the etiology of complex diseases.
|
|
| 3. |
|
|
| 4. |
- Berntman, Monica, et al.
(författare)
-
Bus travel safety - a travel chain perspective
- 2010
-
Konferensbidrag (refereegranskat)abstract
- The injury risk for bus passengers is low compared to car users. However, bus passengers also run the risk of sustaining injuries as vulnerable road users: as pedestrians or cyclists to and from the bus stop. Among vulnerable road users, seniors are a particularly important group. Hitherto, injury data have mainly been based on police-reported accidents. These accidents reveal bus occupant safety, rarely covering the whole travel chain. The aim of this study is therefore to incorporate all links in the travel chain, in order to better assess the risks in local and regional bus services. Instead of using only police data, both police- and hospital-registered injuries are collected, which will cover not only on-board injuries but also transport to and from the vehicle and during boarding and alighting. Four emergency departments in a southern Swedish county (Skåne) have been collecting data on bus-related injuries between 2006 and 2009. Follow-up studies (postal surveys) are made in order to assess longterm effects and medical costs. In order to assess incidence rates, injury data are complemented by using ongoing extensive travel surveys. The preliminary findings (with data from 2006 to 2008) from this study underscore the need for a holistic perspective when it comes to safety issues. A substantial number of bus-related injuries are sustained to and from the bus stops, and among these injuries older people are over-represented. These injuries are results of so-called single accidents, i.e. not directly involving external violence. Further results will target exposure, risk estimates, and societal costs for the group of elderly passengers as well as all user groups.
|
|
| 5. |
|
|
| 6. |
- Blomstedt, Patric, et al.
(författare)
-
A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation
- 2009
-
Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 24:16, s. 2415-2419
-
Tidskriftsartikel (refereegranskat)abstract
- To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 +/- 24 to 9 +/- 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.
|
|
| 7. |
- Carlsson, Ninni, 1962, et al.
(författare)
-
”Visa i handling vad arbetet mot mäns våld är värt”
- 2019
-
Ingår i: Svenska Dagbladet. ; 2019:4 april
-
Tidskriftsartikel (populärvet., debatt m.m.)abstract
- Mitt i debatten om Josefin Nilsson och det våld mot henne som närstående berättar om i SVT-dokumentären ”Älska mig för den jag är”, tillkännager regeringen, C och L att de föreslår 45 miljoner i vårbudget för att bekämpa mäns våld mot kvinnor. Flera medier kallar det en storsatsning men är det verkligen det, frågar våldsforskare, #metoo-upprop och organisationer. Med hjälp av aktuell forskning argumenterar de för att detta är långt ifrån tillräckligt, kräver större vårbudget mot mäns våld mot kvinnor och bjuder in riksdag och regering till dialog.
|
|
| 8. |
- Colleoni, Marco, et al.
(författare)
-
Site of primary tumor has a prognostic role in operable breast cancer: the international breast cancer study group experience.
- 2005
-
Ingår i: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. - 0732-183X. ; 23:7, s. 1390-400
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Cancer presenting at the medial site of the breast may have a worse prognosis compared with tumors located in external quadrants. For medial tumors, axillary lymph node staging may not accurately reflect the metastatic potential of the disease. PATIENTS AND METHODS: Eight-thousand four-hundred twenty-two patients randomly assigned to International Breast Cancer Study Group clinical trials between 1978 and 1999 were classified as medial site (1,622; 19%) or lateral, central, and other sites (6,800; 81%). Median follow-up was 11 years. RESULTS: A statistically significant difference was observed for patients with medial tumors versus those with nonmedial tumors in disease-free survival (DFS; 10-year DFS, 46% v 48%; HR, 1.10; 95% CI, 1.02 to 1.18; P = .01) and overall survival (10-year OS 59% v 61%; HR, 1.09; 1.01 to 1.19; P = .04). This difference increased after adjustment for other prognostic factors (HR, 1.22; 95% CI, 1.13 to 1.32 for DFS; and HR, 1.24; 95% CI, 1.14 to 1.35 for OS; both P = .0001). The risk of relapse for patients with medial presentation was largest for the node-negative cohort and for patients with tumors larger than 2 cm. In the subgroup of 2,931 patients with negative axillary lymph nodes, 10-year DFS was 61% v 67%, and OS was 73% v 80% for medial versus nonmedial sites, respectively (HR 1.33; 95% CI, 1.15 to 1.54; P = .0001 for DFS; and HR 1.40; 95% CI, 1.17 to 1.67; P = .0003 for OS). CONCLUSION: Tumor site has a significant prognostic utility, especially for axillary lymph node-negative disease, that should be considered in therapeutic algorithms. New staging procedures such as biopsy of the sentinel internal mammary nodes or novel imaging methods should be further studied in patients with medial tumors.
|
|
| 9. |
|
|
| 10. |
- Gruber, Günther, et al.
(författare)
-
Prognostic value of extracapsular tumor spread for locoregional control in premenopausal patients with node-positive breast cancer treated with classical cyclophosphamide, methotrexate, and fluorouracil: long-term observations from International Breast Cancer Study Group Trial VI.
- 2005
-
Ingår i: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. - 0732-183X. ; 23:28, s. 7089-97
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: We sought to determine retrospectively whether extracapsular spread (ECS) might identify a subgroup that could benefit from radiotherapy after mastectomy, especially patients with 1 to 3 positive lymph nodes (LN1-3+). PATIENTS AND METHODS: We randomized 1,475 premenopausal women with node-positive breast cancer to three, six, or nine courses of "classical" CMF (cyclophosphamide, methotrexate, and fluorouracil). After a review of all pathology forms, 933 patients (63%) had information on the presence or absence of ECS. ECS was present in 49.5%. The median follow-up was 10 years. RESULTS: In univariate analyses, ECS was associated with worse disease-free survival (DFS) and overall survival (OS). In multivariate analyses adjusting for tumor size, vessel invasion, surgery type, and age group, ECS remained significant (DFS: hazard ratio, 1.61; 95% CI, 1.34 to 1.93; P < .0001; OS: 1.67; 95% CI, 1.34 to 2.08; P < .0001). However, ECS was not significant when the number of positive nodes was added. The locoregional failure rate +/- distant failure (LRF +/- distant failure) within 10 years was estimated at 19% (+/- 2%) without ECS, versus 27% (+/- 2%) with ECS. The difference was statistically significant in univariate analyses, but not after adjusting for the number of positive nodes. No independent effect of ECS on DFS, OS, or LRF could be confirmed within the subgroup of 382 patients with LN1-3+ treated with mastectomy without radiotherapy. CONCLUSION: Our results do not support an independent prognostic value of ECS, nor its use as an indication for irradiation in premenopausal patients with LN1-3+ treated with classical CMF. However, we could not examine whether extensive ECS is of prognostic importance.
|
|
