Search results for "SCOLIOSIS"
showing 10 items of 64 documents
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…
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…
Mehrsegmentale Fusion der Skoliose bei Duchenne-Muskeldystrophie
2008
Operations in scoliosis in patients suffering from an advanced stage of Duchenne muscular dystrophy are associated with a higher risk due to the extent of the curves, the respiratory insufficiency and frequent cardiomyopathia. Progressive scolioses in 20 wheelchair patients with an age between 10.5-18.3 years (mean 14.6 years) were treated by CDI. The mean preoperative angle in this group was 70.6 degrees, the postoperative angle 31.2 degrees (mean correction 39.4 degrees or 55.8%). The preoperative lordosis of the lumbar spine (mean angle 4.1 degrees) was corrected to 17.8 degrees postoperatively. The average intraoperative blood loss (2300 ccm) was evident more compared with idiopathic sc…
Load Distribution in the Lumbar Spine During Modeled Compression Depends on Lordosis.
2021
Excessive or incorrect loading of lumbar spinal structures is commonly assumed as one of the factors to accelerate degenerative processes, which may lead to lower back pain. Accordingly, the mechanics of the spine under medical conditions, such as scoliosis or spondylolisthesis, is well-investigated. Treatments via both conventional therapy and surgical methods alike aim at restoring a “healthy” (or at least pain-free) load distribution. Yet, surprisingly little is known about the inter-subject variability of load bearings within a “healthy” lumbar spine. Hence, we utilized computer tomography data from 28 trauma-room patients, whose lumbar spines showed no visible sign of degeneration, to …
Dental treatment of Marfan syndrome. With regard to a case.
2010
Marfan syndrome is the most common dominant autosomic genetic disorder of the connective tissue. It has a reported incidence of 1 per each 5000 individuals without any distinction of gender or ethnicity. This pathology?s diagnosis is mainly based on physical characteristics, presenting three main different symptomatic charts: neonatal Marfan, infant Marfan and classical Marfan. The mayor characteristic of these patients consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems and atypical bone overgrowth. The individual implied in the present investigation concerned to a 14 year old male patient presentin…
Correlation of Vertebral Absolute Axial Rotations in CAD 3D Models of Adolescent Idiopathic Scoliosis Non-Invasively Diagnosed
2019
This paper presents preliminary results on non-invasive optical diagnosis of patient with adolescent idiopathic scoliosis (AIS) with recently developed tool ScolioSIM. This tool generates intrinsic and extrinsic indicators of the spinal deformity and 3D CAD (Computer-aided Design) deformity model based only on a digitalized dorsal surface of the examined patient. Our primary focus in this paper are absolute axial rotations (AAR) of each vertebra in AIS patients and their correlations. Clinical relevance of this research is high, as we intend to avoid traditional methods which rely on highly complicated reading and measuring of AARs on planar x-ray films, as these methods involve ionizing ra…
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
2016
Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…
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…
The angle of trunk rotation and symmetry of a lower limb loading in musicians of a symphony orchestra in Poland: a pilot study concerning instrument-…
2022
Background: The study aimed to evaluate the angle of trunk rotation (ATR) and symmetry of lower limb loading in professional musicians. Material and Methods: A total of 60 instrumentalists were examined: cellists, violinists and musicians playing wind instruments. The scoliometer examination was used to assess trunk asymmetry. The angle of trunk rotation was measured at segment: Th1–Th4, Th5–Th12, and Th12–L4. The maximum value (ATR max) and the sum of three rotations (STR) were calculated. Two scales were used to assess the symmetry of lower limb loading. Loading symmetry index (LSI) of the lower limb was calculated. Results: Violinists have the highest mean values of ATR, ATR max, STR and…
From genetics to epigenetics to unravel the etiology of adolescent idiopathic scoliosis.
2020
Scoliosis is defined as the three-dimensional (3D) structural deformity of the spine with a radiological lateral Cobb angle (a measure of spinal curvature) of ≥10° that can be caused by congenital, developmental or degenerative problems. However, those cases whose etiology is still unknown, and affect healthy children and adolescents during growth, are the commonest form of spinal deformity, known as adolescent idiopathic scoliosis (AIS). In AIS management, early diagnosis and the accurate prediction of curve progression are most important because they can decrease negative long-term effects of AIS treatment, such as unnecessary bracing, frequent exposure to radiation, as well as saving the…