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- Einarsdottir, Elisabet, et al.
(författare)
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A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
- 2004
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 13:8, s. 799-805
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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.
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| 5. |
- Tidermark, Jan, et al.
(författare)
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Femoral neck fractures in the elderly : Functional outcome and quality of life according to EuroQol
- 2002
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Ingår i: Quality of life research. - : Springer Nature B.V. - 1573-2649 .- 0962-9343. ; 11:5, s. 473-481
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Tidskriftsartikel (refereegranskat)abstract
- The main purpose of this prospective study was to investigate the functional outcome and health-related quality of life according to EuroQol (EQ-5D) after a femoral neck fracture treated with internal fixation in relatively healthy elderly patients. We also aimed to validate the use of the EQ-5D in routine clinical follow-ups of this group of patients. The inclusion criteria were more than 65 years of age, absence of severe cognitive dysfunction, living independently, and unhindered walking ability preoperatively. The mean follow-up period was 17 months. The rated prefracture EQ-5D^sub index^ scores showed good correspondence with the scores of an age-matched Swedish reference population. The EQ-5D^sub index^ scores decreased from 0.78 before the fracture (based on recall) to 0.59 at 4 months and 0.51 at 17 months after surgery. The decrease was significantly larger among patients with fracture healing complications. There was a good correlation between the EQ-5D^sub index^ scores and other outcome measures such as pain, mobility, independence in ADL and independent living status. The questionnaire response rate (EQ-5D) was 89-100% on different follow-up occasions. The EQ-5D appears to be an easy-to-use instrument even for elderly patients with femoral neck fractures. Changes in the quality of life may be useful to identify patients who might benefit from reoperation, i.e. arthroplasty. The EQ-5D also appears to be a relevant clinical end-point in outcome studies.[PUBLICATION ABSTRACT]
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