Search results for "musculo"
showing 10 items of 1726 documents
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Ski jumping boots limit effective take-off in ski jumping
2002
In this study, we measured the vertical and horizontal take-off forces, plantar pressures and activation patterns of four muscles (vastus lateralis, gluteus maximus, tibialis anterior, gastrocnemius) in 10 ski jumpers in simulated laboratory conditions when wearing either training shoes or ski jumping boots. We found significant differences in vertical (P < 0.001), horizontal (P < 0.05) and resultant (P < 0.001) take-off velocities and vertical force impulse (P < 0.01). We found no significant differences in the jumpers' initial take-off positions; however, the jumping boots condition resulted in a smaller displacement in the final position of the following joint angles: ankle angle (P < 0.…
Functional evaluation of patients with anterior cruciate ligament injury. A transversal analytical study.
2018
Abstract Objective To evaluate, by means of biomechanical analysis, functional alterations of gait and balance of patients with anterior cruciate ligament (ACL) injury. Material and methods Transversal analytical study on 64 people, 27 health subjects and 37 patients with ACL injury. Biomechanical analysis of gait in all individuals was performed by means of four tests: (1) kinematic test, to characterize gait pattern; (2) kinetic test, to characterize forces against the floor, duration of treads, symmetry of both legs, and the reproducibility of the gait; (3) pivot-shift test, to analyze the rotational stability of the knee on the sagittal axis; and (4) equilibrium test. Results Alteration…
Lumbar spine mobility in Marfan syndrome
1993
Low back pain symptoms and lumbar spine mobility were assessed by questionnaires and by clinical and radiological measurements in 32 patients with Marfan syndrome. Frequently occurring low back pain was reported by 19% of the patients, but the disability was slight in all of them. Flexion and extension mobility of the lumbar spine (L1-S1) assessed from radiographs was 59.9 degrees and 13.2 degrees, respectively. Mean lumbar angular mobility between flexion and extension radiographs was 7.4 degrees at L1-2, 13.2 degrees at L2-3, 16.0 degrees at L3-4, 19.3 degrees at L4-5 and 18.3 degrees at L5-S1. No correlation was found between the manual assessment of lumbar segmental instability and radi…
The value of MRI in the evaluation of the ACL deficient knee and in the post-operative evaluation after ACL reconstruction
1993
To evaluate the usefulness of magnetic resonance imaging (MRI) in the exploration of the anterior cruciate ligament (ACL) deficient-knee, a total of twenty-five patients with chronic instability of the knee joint and who underwent both MRI and arthroscopy were studied prospectively. Twenty-three of these patients underwent an intra-articular reconstruction of the ACL with bone-patellar tendon-bone autografts. For the ACL lesions MRI had a sensitivity of 95.8%, a specificity of 100% and a diagnostic accuracy of 97.7%. Associated bowing of the PCL was seen in 20 cases of the study group. For the associated meniscal lesions MRI had a sensitivity of 77.7%, a specificity of 94.7% and a diagnosti…
Retrospective review of L3 myelomeningocele in three age groups: should posterolateral iliopsoas transfer still be indicated to stabilize the hip?
2005
The data from 58 hips in 29 myelodysplastic children with L3 paralysis has been reviewed retrospectively. Posterolateral transfer of the iliopsoas (Sharrard technique) was performed on all hips to correct muscle imbalance between 1975 and 1992. The average length of follow-up was 21 years. Preoperatively, 58.6% of the hips were either subluxated or dislocated (these were surgically reduced at the same stage). Radiological assessment revealed that 91.4% of the hips were stable at preschool age and 84.5% in adolescence. Of the patients 86% were functional walkers at preschool age and 75.8% in adolescence. Downward transitions in seven patients were related to the presence of scoliosis, spasti…
Reduced secretion of proinflammatory cytokines of monosodium urate crystal‐stimulated monocytes in chronic renal failure: an explanation for infreque…
2000
In gouty arthritis, monosodium urate (MSU) crystals interact with monocytes and neutrophils to produce inflammatory reactions associated with acute synovitis. In patients with end-stage renal disease (ESRD), gouty arthritis is a rare condition despite often severe hyperuricaemia. We wondered whether differences in the secretion of proinflammatory cytokines by MSU crystal-stimulated monocytes might be one explanation for the low incidence of gouty arthritis in patients with ESRD compared with healthy controls.Thirteen patients with ESRD on intermittent haemodialysis treatment, six patients with chronic renal failure not yet on dialysis, and 15 age- and sex-matched healthy controls were exami…
Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.
2021
Objective To study whether vitamin D (VitD) inhibits cell proliferation and Wnt/β-catenin and transforming growth factor−β (TGFβ) signaling pathways in uterine leiomyomas independent of mediator complex subunit 12 (MED12) mutation status. Design Prospective study comparing leiomyoma vs. myometrial tissues and human uterine leiomyoma primary (HULP) cells treated with or without VitD and analyzed by MED12 mutation status. Setting Hospital and university laboratories. Patient(s) Women with uterine leiomyoma without any treatment (n = 37). Intervention(s) Uterine leiomyoma and myometrium samples were collected from women undergoing surgery because of symptomatic leiomyoma pathology. Main Outcom…
Double Retrotransverse Foramen of Atlas (C1)
2018
Background The retrotransverse foramen is a nonmetric variant of C1 that consists of an abnormal accessory foramen on the posterior root of the transverse process. Case Description During a study on the prevalence of the retrotransverse foramen in 150 dry C1 vertebrae, we observed an exceptional C1 (0.67%) with a right double retrotransverse foramen of the 14 C1 vertebrae (9.3%). This has not been reported previously in the literature. No osteogenic reaction and no degenerative signs were observed in this C1 with the double retrotransverse foramen. Conclusions Neurosurgeons should be aware of the possible presence of the “conventional” retrotransverse foramen and the “exceptional” double re…
A manual therapy and home stretching program in patients with primary frozen shoulder contracture syndrome : a case series
2019
Abstract: Background Manual therapy has been demonstrated to reduce pain and improve function in patients with frozen shoulder contracture syndrome (FSCS), but no evidence exists to support one form of manual therapy over another. The purpose of this case series was to describe both short and long-term outcomes after a manual therapy program and home stretching exercises based on specific impairments in shoulder mobility and level of tissue irritability in patients with FSCS. Case Description Eleven patients with primary FSCS were treated with an individually tailored multimodal manual therapy approach once weekly for 12 visits coupled with home stretching exercises once a day, five days pe…