LifeGene

Musculoskel working group

Chair

Associate Professor Karl Michaëlsson

Associate Professor at the Department of Surgical Sciences, Uppsala University.

Telephone

+46-18-611 71 01

Fax

-

E-mail

karl.michaelsson@surgsci.uu.se

Institution

Institutionen för kirurgiska vetenskaper

Visiting address

Uppsala University Hospital, entrance 70

Mailing address

Uppsala University Hospital, SE-751 85 Uppsala, Sweden

 

Injuries and musculo-skeletal conditions

Musculoskeletal problems are commonly related to injuries, degenerative changes or from still unknown causes, and with impaired functioning and pain as the dominant consequences for the individual.

Injuries – a major cause of death

Injuries are worldwide one of the major causes of death, disability and health care consumption in all age categories below the age of 60. Today, close to 16,000 people die from injuries daily worldwide. The number of non-lethal injuries is substantially higher, with many people suffering from long lasting or permanent disability. In Sweden, injuries accounted for 9% of sick-leave exceeding 30 days in 2004. The effects of the global injury epidemic are, however, most predominant in the developing parts of the world.

Osteoporotic fractures – a growing problem

A special and devastating injury in the elderly are osteoporotic fractures. Osteoporosis is a disease resulting from a decreased amount of bone tissue in the body, which leads to a fragile skeleton and increased risk of fractures. From an etiological point of view, the disease is complex, influenced by life style such as food intake, smoking and physical activity, endocrine factors as well as genetic constitution. Bone has a slow turnover rate and it would be of great value to prospectively follow individuals with repeated measurements beginning at a time point long before onset of osteoporosis to better understand why some develop the disease.

Typical osteoporotic fractures are hip, vertebral, proximal upper arm and distal forearm fractures. Osteoporotic fractures constitute a tremendous and growing problem. A total of approximately 70,000 osteoporotic fractures occur each year in Sweden. Together with Norway, Sweden has the highest incidence of osteoporotic fractures in the world.

Besides heavy treatment costs for the society, these fractures have a profound impact on quality of life. There is also a substantial increase in risk of death.

 

Musculoskeletal conditions

We also aim to study chronic musculoskeletal conditions, where related complaints are the second most common reason for consultations in primary care.  These conditions include spinal conditions, where low back pain alone accounts 50% of restricted-activity days and osteoarthritis of the hip, knee and shoulder joints have a prevalence of at least 40% in those over 70.  In addition, shoulder pain due to impingement and cuff arthropathy, paediatric orthopaedic problems such as club foot, Perthe’s disease and scoliosis are all important disease groups with substantial costs for the society besides suffering for the individual.

  

LifeGene would allow a translational research effort to study the genetic and environmental aetiologies of all these disease entities, with the main focus to prevent them. 

 

Short-term aims

  • To describe the type, frequency and direct causes of injuries at different ages from birth to middle age
  • To determine the proportion of subjects with chronic musculo-skeletal pain at different ages
  • To estimate the number of children, adolescents and adults with scoliosis
  • To measure both areal and true volumetric bone density and bone size in small children to middle-aged adults

 

Intermediate aims

  • To find genetic, biochemical and environmental determinants for especially repeated injuries, chronic musculo-skeletal pain, scoliosis and changes in bone density and size
  • To investigate the association between mild traumatic brain injury in children and later cognitive function

 

Distant aims

  • Perform interventions within LifeGene in an effort to reduce the number of injuries
  • To estimate the impact of genes and changes in lifestyle on fracture risk
  • To investigate environmental, social and genetic determinants of musculoskeletal conditions in children to the initial probands in the LifeGene cohort

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Karl Michaelsson

Associate Professor Karl Michaëlsson

Page updated by: LifeGene 2008-06-17
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