| 1. |
- Astuto, Lisa M., et al.
(författare)
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Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
- 2000
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1569-1574
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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| 2. |
- Bojsen-Møller, Jens, et al.
(författare)
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Differential displacement of the human soleus and medial gastrocnemius aponeuroses during isometric plantar flexor contractions in vivo.
- 2004
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Ingår i: Journal of applied physiology (Bethesda, Md. : 1985). - : American Physiological Society. - 8750-7587 .- 1522-1601. ; 97:5, s. 1908-14
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Tidskriftsartikel (refereegranskat)abstract
- The human triceps surae muscle-tendon complex is a unique structure with three separate muscle compartments that merge via their aponeuroses into the Achilles tendon. The mechanical function and properties of these structures during muscular contraction are not well understood. The purpose of the study was to investigate the extent to which differential displacement occurs between the aponeuroses of the medial gastrocnemius (MG) and soleus (Sol) muscles during plantar flexion. Eight subjects (mean +/- SD; age 30 +/- 7 yr, body mass 76.8 +/- 5.5 kg, height 1.83 +/- 0.06 m) performed maximal isometric ramp contractions with the plantar flexor muscles. The experiment was performed in two positions: position 1, in which the knee joint was maximally extended, and position 2, in which the knee joint was maximally flexed (125 degrees ). Plantarflexion moment was assessed with a strain gauge load cell, and the corresponding displacement of the MG and Sol aponeuroses was measured by ultrasonography. Differential shear displacement of the aponeurosis was quantified by subtracting displacement of Sol from that of MG. Maximal plantar flexion moment was 36% greater in position 1 than in position 2 (132 +/- 20 vs. 97 +/- 11 N.m). In position 1, the displacement of the MG aponeurosis at maximal force exceeded that of the Sol (12.6 +/- 1.7 vs. 8.9 +/- 1.5 mm), whereas in position 2 displacement of the Sol was greater than displacement of the MG (9.6 +/- 1.0 vs. 7.9 +/- 1.2 mm). The amount and "direction" of shear between the aponeuroses differed significantly between the two positions across the entire range of contraction, indicating that the Achilles tendon may be exposed to intratendinous shear and stress gradients during human locomotion.
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| 3. |
- Carlsson, U, et al.
(författare)
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Plantar flexor muscle function in open and closed chain.
- 2001
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Ingår i: Clinical physiology (Oxford, England). - 0144-5979. ; 21:1, s. 1-8
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Tidskriftsartikel (refereegranskat)abstract
- In the present study, the torque or work produced during isometric, pure concentric and eccentric-concentric plantar flexions, performed in sitting, standing and prone were measured. The electromyographic (EMG) activity was measured from the soleus, gastrocnemius medialis, tibialis anterior and rectus femoris muscles. The isometric tests showed the highest torques in the standing test. The rectus femoris and gastrocnemius activities were lower in the prone than in the standing test. The sitting test showed lower activities in all muscles of the lower leg compared with the standing test. No differences in work between the prone and sitting tests were found during the concentric phases. Higher rectus femoris activity in the eccentric-concentric test and lower activity in the triceps surae during the concentric phases were seen in the sitting compared with the prone test. We conclude that tests of overall functional ability should be performed in the standing position while specific tests of the plantar flexors should be performed in the prone position.
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| 7. |
- Möller, Michael, 1957, et al.
(författare)
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Acute rupture of tendon Achillis. A prospective randomised study of comparison between surgical and non-surgical treatment.
- 2001
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Ingår i: The Journal of bone and joint surgery. British volume. - 0301-620X. ; 83:6, s. 843-8
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Tidskriftsartikel (refereegranskat)abstract
- In a prospective, randomised, multicentre study, 112 patients (99 men and 13 women, aged between 21 and 63 years) with acute, complete rupture of tendo Achillis were allocated either to surgical treatment followed by early functional rehabilitation, using a brace, or to non-surgical treatment, with plaster splintage for eight weeks. The period of follow-up was for two years. Evaluation was undertaken by independent observers and comprised interviews, clinical measurements, isokinetic muscle performance tests, heel-raise tests and an overall outcome score. The rate of rerupture was 20.8% after non-surgical and 1.7% after surgical treatment (p < 0.001). Surgical and non-surgical treatment produced equally good functional results if complications were avoided. However, the rate of rerupture after non-surgical treatment was unacceptably high.
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| 8. |
- Möller, Michael, 1957, et al.
(författare)
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Calf muscle function after Achilles tendon rupture. A prospective, randomised study comparing surgical and non-surgical treatment.
- 2002
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Ingår i: Scandinavian journal of medicine & science in sports. - : Wiley. - 0905-7188. ; 12:1, s. 9-16
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Tidskriftsartikel (refereegranskat)abstract
- In a prospective, randomised, multicentre study, 112 patients with Achilles tendon rupture (ATR) were allocated to surgical treatment (n=59), followed by early functional rehabilitation using a brace, and non-surgical treatment (n=53), i.e. eight weeks of plaster treatment. In this study, the results of the isokinetic muscle strength evaluation are presented for contractions in both the concentric and the eccentric mode, plantar flexion and dorsiflexion, two angular velocities and three different positions of the subject. The heel-raise test for endurance, maximum calf circumference and tendon width were also evaluated. The re-rupture rate was 20.8% in the non-surgically-treated group and 1.7% in the surgically-treated group. No significant differences were found between the treatment groups in terms of the isokinetic strength measurements and the endurance test among the patients who did not sustain a re-rupture. If a re-rupture is avoided, both surgical and non-surgical treatment for ATR produce good functional outcome; however, the muscle function was not restored after two years in either group.
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| 9. |
- Möller, Michael, 1957
(författare)
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On the treatment of Achilles tendon rupture. A prospective, randomised study of the results after surgical and non-surgical treatment
- 2001
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Only two prospective, randomised studies have been published on the outcome after treatment for Achilles tendon rupture. The controversy regarding the optimal treatment continues. In the present study, 112 patients with acute Achilles tendon rupture were randomised and all of them were followed up for two years. Fifty-nine patients were treated surgically with end-to-end sutures followed by two weeks of plaster treatment and six weeks of treatment in a brace with increasing range of motion. Fifty-three patients were treated non-surgically with four weeks of plaster in equinus and four weeks in a neutral position. The re-rupture rate was 20.8% in the non-surgical-treatment group and 1.7% in the surgical-treatment group (p=0.001). There were no major surgical complications. A new Achilles Tendon Rupture score including five objective and three subjective parameters did not reveal any significant difference between the treatment groups. The time of return to work and sports did not differ significantly between the treatment groups either. Calf muscle strength was evaluated both for purposes of test-retest reliability in healthy volunteers and for outcome reasons in the clinical study. Isokinetic torque production in concentric and eccentric muscle action in plantar flexion and dorsiflexion at the ankle joint was studied on the right and left sides. Calf muscle endurance was evaluated using a standardised heel-raise test, until fatigue. The reliability test showed acceptable reproducibility for the isokinetic tests and the endurance tests. After treatment for ATR, we found calf muscle hypotrophy, thickening of the Achilles tendon, decreased calf muscle strength and reduced endurance on the injured side throughout the study period. There were, however, no significant differences between the treatment groups. Magnetic resonance imaging and ultrasonography detected the same amount of pathological findings during healing in both treatment groups. The correlation between the radiological findings and the clinical parameters was weak.The non-surgical treatment of ATR, which produced treatment failure in every fifth patient, cannot be regarded as acceptable for healthy, active people under the age of 65 years. Surgical treatment followed by early functional rehabilitation is a safe method for the treatment of ATR with a low risk of complications. However, surgical and non-surgical treatments produced equally good medium-term results in the group of patients in whom no rerupture occurred.
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