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- Coury, H. J. C. G., et al.
(författare)
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Change in knee kinematics during gait after eccentric isokinetic training for quadriceps in subjects submitted to anterior cruciate ligament reconstruction
- 2006
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Ingår i: Gait & Posture. - : Elsevier BV. - 1879-2219 .- 0966-6362. ; 24:3, s. 370-374
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Tidskriftsartikel (refereegranskat)abstract
- Knee kinematics after anterior cruciate ligament (ACL) reconstruction is of interest in studies evaluating the effect of training programs. Many studies have addressed knee flexion/extension but not valgus/varus movements. Considering that joint stability is a major concern in ACL reconstruction surgery, movements occurring in the frontal plane of the knee also deserve attention. Knee extensor torque was analyzed by an isokinetic dynamometer and the angular amplitudes and velocities of flexion/extension and valgus/varus movements were analyzed by goniometry during gait 9 months after ACL reconstruction. The analysis was repeated after 3 months of eccentric isokinefic training of the quadriceps in five patients. The gait pattern was also recorded for 10 healthy controls. The knee extensor torque and flexion/extension range of movement during gait increased significantly after training. However, an unexpectedly increased valgus, most pronounced during the swing phase, which may imply adverse effects on the knee, was also observed in the ACL reconstructed knee. The recorded valgus angles may however be overestimated due to crosstalk. Thus, the extent of the increased valgus, as well as the mechanisms involved and the functional and clinical implications, need clarification before eccentric training after ACL reconstruction can be generally recommended. (C) 2005 Elsevier B.V. All rights reserved.
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- Liu, Z. G., et al.
(författare)
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
- 2023
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Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 32:20, s. 2981-2995
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Tidskriftsartikel (refereegranskat)abstract
- Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that PPP1R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that PPP1R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function.
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- Poletto, P. R., et al.
(författare)
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Peak torque and knee kinematics during gait after eccentric isokinetic training of quadriceps in healthy subjects
- 2008
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Ingår i: Revista Brasileira de Fisioterapia. - 1809-9246. ; 12:4, s. 331-337
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate the effects of eccentric isokinetic training on knee range of motion (ROM) of healthy subjects. Methods: The knee extensor and flexor isokinetic peak torques and ROM of flexion/extension and varus/valgus knee movements during gait of 18 healthy men (21.7 +/- 2.2 years; 1.73 +/- 0.10m; 68.7 +/- 9.4kg; body mass index: 22.6 +/- 2 kg/m(2)) were analyzed, before and after six weeks of bilateral eccentric isokinetic training of the knee extensors at 30 degrees/s. Results: The knee extensor torque increased in both limbs (right, from 229 +/- 54 to 304 +/- 53Nm; p<0.01; and left, from 228 +/- 59 to 311 +/- 63Nm; p<0.01), without any difference in torque gain between them. The knee flexor peak torque increased (from 114 +/- 30 to 123 +/- 22Nm; p<0.05), but the hamstrings/quadriceps (H/Q) ratio decreased (from 0.5 +/- 0.08 to 0.39 +/- 0.07; p<0.01) after the training. There were no differences in the flexion/extension and varus/valgus movements after the training, except for a small change (4 degrees) in valgus for the left knee, Conclusions: The eccentric isokinetic training of the knee extensors increased the extensor torque and decreased the H/Q ratio, although the effect on the gait pattern seemed negligible in healthy subjects. Associated training for flexors, complementary to the extensor training, seems to be necessary for balance between knee agonists and antagonists.
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