Search results for "Olio"
showing 10 items of 630 documents
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…
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Reorganization of cortical motor area in prior polio patients
1999
Focal transcranial magnetic stimulation (TMS) was used to study the motor maps of upper limb muscles in 7 adult patients with a history of paralytic poliomyelitis. The aim of the study was to verify the potential for long-term cortical reorganization of a selective peripheral motor neuron lesion suffered early in life.Patient selection was based on the prevalent involvement of proximal muscles in only one of the upper limbs. Motor evoked potentials (MEPs) were recorded from deltoid and abductor pollicis brevis (APB) muscles. Each muscle map was characterized by area (no. of excitable positions), volume (the sum of MEP amplitudes at all scalp positions), maximal amplitude (the highest MEP re…
Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Syndrome: A Mixed Congenital Myopathy
2001
At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had d…
HETEROGENEITY OF METATROPIC DYSPLASIA
1983
Metatropic dysplasia is a neonatally manifest entity that is characterized clinically by a rapidly progressing kyphoscoliosis leading to severe shortening of the originally long trunk ("metatropism"). Major radiographic features include flattening and defective ossification of the vertebral bodies, a narrow thorax and a marked hypoplasia of the basilar portions of the ilia with crescent-shaped iliac crests. There is some evidence of genetic heterogeneity. From five personal observations and from a review of the literature we conclude that metatropic dysplasia comprises at least three genetic entities: (1) a nonlethal type with autosomal recessive transmission; (2) a nonlethal dominant type …
Operative Treatment of Scoliosis With Cotrel-Dubousset-Hopf Instrumentation
1997
Study design This study analyzes the effects of a new anterior spinal instrumentation system and the results of use in 50 patients with scoliosis. Objectives Anterior spine systems are reviewed. The principles of a new anterior spinal instrumentation system allowing for postoperative care without external support are discussed. Summary of background data Numerous different implants have been presented in the literature for anterior spinal surgery. Nevertheless a primary stable anterior instrumentation was not available for multisegmental procedures until now, and the restoration of lordosis in the lumbar spine was very difficult with the common devices. The development of more stable device…
Development of scoliosis in myelomeningocele. Differences in the history caused by idiopathic pattern.
1993
The natural history of scoliosis in the literature concerning the idiopathic and neuromuscular scoliosis in myelomeningocele patients (MMC) are compared to our own results in 12 patients with MMC and 89 patients operated because of an idiopathic scoliosis. According to known experiences the natural history of scoliosis in MMC is progression even after the end of growth. The chance of developing a scoliosis increases with the patients, age and the level of the lesion. The higher the level of paralysis the more common is a spinal deformity. In literature the progression rate of MMC scoliosis is 2.5-3.5 degrees per year, with the idiopathic pattern 0.5-0.65 degrees per year after end of growth…
Assessment of Construct Validity of the Oswestry Disability Index and the Scoliosis Research Society–30 Questionnaire (SRS-30) in Patients With Degen…
2019
Observational cohort study.To measure and compare the structural validity of the Oswestry Disability Index (ODI) and the Scoliosis Research Society-30 (SRS-30) questionnaire in an adult population with prolonged degenerative thoracolumbar disease.The ODI and the SRS-30 are commonly used patient-reported outcome instruments to assess back-specific disability and symptoms related to scoliosis. Still, these instruments have not been validated for degenerative spinal disease with different stages of deformity.Altogether, 637 consecutive adult patients with degenerative spinal pathologies were included. The patients completed the ODI (version 2.0), the 23 preoperative items of the SRS-30, a gene…
Gait analysis in idiopathic scoliosis before and after surgery: a comparison of the pre- and postoperative muscle activation pattern
1998
In a prospective experimental study the level gait activity scores of the iliocostalis lumborum, glutaeus medius, tensor fasciae latae, vastus lateralis and peronaeus longus muscles of both body sides were examined by computerized electromyography in 23 patients with idiopathic scoliosis before and after CD instrumentation. The pre- and postoperative findings were examined as to asymmetric patterns in muscle requisition during gait and the respective changes induced by the spinal correction. These results were compared with the corresponding results obtained in healthy subjects in two independent sessions with identical experimental conditions. A muscle activity asymmetry coefficient was de…
Kyphoscoliosis ventilatory insufficiency: noninvasive management outcomes.
2000
Objective: To determine the effects on symptoms, pulmonary function, sleep, and other clinical variables of treating kyphoscoliosis-associated chronic alveolar hypoventilation with nocturnal nasal ventilation. Design: Sixteen patients with kyphoscoliosis were treated with nocturnal nasal ventilation delivered by volume-cycled (seven patients) and pressure-cycled (nine patients) ventilators. Dyspnea, morning headaches, fatigue, hypersomnolence, and perceived sleep quality were assessed. Results: All pretreatment symptoms improved significantly with nasal ventilation. Likewise, Pao 2 (mm Hg), Pao 2 /Fio 2 , Paco 2 (mm Hg), pH, and forced vital capacity (in milliliters and as a percentage of p…