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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An isolated case and an outbreak of parelaphostrongylosis in goats are described. Signs included tetraparesis, hemiparesis, tetraplegia, spastic gait, scoliosis, vestibular strabismus, blindness, and death. Five cases were necropsied and nematodes were seen in the brain and spinal cord of four of these. Intact adult nematodes from two cases were identified as Parelaphostrongylus tenuis, the meningeal worm of white-tailed deer. Cerebrospinal fluid analysis from affected goats showed a moderately elevated protein content, evidence of hemorrhage, and mononuclear cell and eosinophil pleocytosis. Recoveries are recorded.
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PMID:Naturally occurring cerebrospinal parelaphostronglylosis. 125 9

The authors screened blind children from a special school to determine whether there is any correlation between idiopathic scoliosis and changes in the postural control system induced by blindness. Children with disabilities in addition to blindness, and children under the age of 8 years were excluded. They selected a homogeneous sample of 46 children of whom 39 were congenitally blind and 7 had become blind after birth. The results in the congenitally blind group were highly significant both quantitatively (59% exhibited structural deviations of the spine) and qualitatively. Apart from 2 cases they all exhibited multiple short scoliotic curves with unique characteristics rarely seen in sighted subjects. Despite this, the authors feel unable to make any categorical assertions regarding the possible role played by functional changes in the exterosensory and proprioceptive organs in the pathogenesis of idiopathic scoliosis. They suggest that the development of such multiple small curves in congenital blindness is simply the response of a congenitally deprived mechanism of body development to achieve stable equilibrium in the spine.
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PMID:Axial deviations of the spine in blind children. 373 26

About 1000 calves with a congenital disease were born in Kagoshima prefecture, Japan, between October 1990 and October 1991, the peaks of the epidemic being in March and July 1991. Of 85 abnormal calves examined pathologically and serologically, 70 appeared to have been suffering from a viral disease. Of these 70 animals, 17 had lesions bearing some resemblance to those of the diseases produced by Akabane, Chuzan, Aino, bluetongue and bovine viral diarrhoea-mucosal disease viruses-diseases known to occur in Kagoshima-but serum samples contained no antibodies to these viruses or to infectious bovine rhinotracheitis virus. This suggested the occurrence of a new type of viral infection in southern Japan. Six of the 17 calves were born dead and the others manifested clinical signs such as weakness, difficulty in sucking, inability to stand, vertigo, opisthotonus, staggering and weak eyesight or blindness. They were of small size and showed domed head, scoliosis, arthrogryposis, maxillary retraction, sunken eye, cataracts, and irregularities and defects of the teeth. At necropsy, almost all cases showed hydranencephaly, and many had cerebral defects and cerebellar hypoplasia or agenesis. Both cerebral and cerebellar lesions were seen in six cases, two of which showed a hypoplastic defect of the brain stem. Histopathological examination of the affected organs revealed gliosis, loss of cerebral parenchyma resulting from dilation of the ventricles, perivascular cuffing with round cells such as lymphocytes and plasma cells, proliferation of blood vessels, thick-walled blood vessels in the brain stem, dilation of mesencephalic aqueducts, cerebellar cortical dysplasia, decreased nerve cells in the ventral horn of the spinal cord, and myodysplasia of skeletal muscle.
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PMID:A congenital abnormality of calves, suggestive of a new type of arthropod-borne virus infection. 788 59

We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.
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PMID:An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 985 54

Analysis of three-dimensional (3D) images of human torsos for torso deformities such as scoliosis requires classifying torso distortion. Assessing torso distortion from 3D images is not trivial as actual torsos are non-symmetric and show an outstanding range of variations leading to high classification errors. As the degree of spinal deformity (and classification of torso shape) influences scoliosis treatment options, the development of more accurate classification procedures is desirable. This paper presents a technique for assessing torso shape and classifying scoliosis into mild, moderate and severe categories using two indices, 'twist' and 'bend', obtained from orthogonally transformed images of the complete torso surface called orthogonal maps. Four transforms (axial line, unfolded cylinder, enclosing cylinder and subtracting cylinder) were used. Blind tests on 361 computer models with known deformation parameter values show 100% classification accuracy. Tests on eight volunteers without scoliosis validated the system and tests on 22 torso images of volunteers with scoliosis showed up to 95.5% classification accuracy. In addition to classifying scoliosis, orthogonal maps present the entire torso in one view and are viable for use in scoliosis clinics for monitoring the progression of scoliosis.
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PMID:Classifying torso deformity in scoliosis using orthogonal maps of the torso. 1753 79

In this report we have described an affected sib in a large Turkish family who appears to have a new distinct dominantly-inherited blindness, scoliosis and arachnodactyly syndrome. The combination of clinical abnormalities in these patients did not initially suggest Marfan syndrome or other connective tissue disorders associated with ectopia lentis. The proband was a 16-year-old boy who was referred to our clinics for scoliosis. He had arachnodactyly of both fingers and toes. He had been suffering from progressive visual loss and strabismus since he was eight-years-old. His 20-year-old brother had severe kyphoscoliosis, and arachnodactyly of fingers and toes. He was 130 cm tall and was bilaterally blind. His 23-year-old sister had only eye findings but no arachnodactyly or scoliosis. His 60-year-old father had mild scoliosis, blindness and arachnodactyly and mother was normal. We performed routine mutation analyses in the genes FBN1, TGFBR1 and TGFBR2, but no mutation has been detected. Our Turkish patients are most likely affected by a hitherto unrecorded condition which is caused by an autosomal dominant gene defect with variable expression but we can not exclude multigenic inheritance. Further studies are needed to assess the contribution of sex influence to the syndrome because the female relative is less affected.
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PMID:Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? 1899 Sep 88

Postoperative vision loss after spinal surgery is a well-known but devastating complication that may result from direct ocular ischemia, embolism to the central retinal artery, ischemic optic neuropathy, or occipital cortical ischemia. The occipital cortex is situated in the posterior border zone of the middle and posterior cerebral arteries and is susceptible to ischemic damage. Transient cortical blindness as a cause of postoperative vision loss has never been reported after spine surgery in a child. We report an 11-year-old female patient with muscular dystrophy who underwent posterior spinal fusion and instrumentation under hypotensive anesthesia for scoliosis who developed transient cortical blindness.
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PMID:Transient cortical blindness as a complication of posterior spinal surgery in a pediatric patient. 2340 29

Whole-exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. Presented here are 14 new patients with IQSEC2 variants. In addition to the established features, we observed: gait ataxia in 7 of 9 (77.8%), drooling in 9 of 14 (64.2%), early feeding difficulties in 7 of 14 (50%), structural brain abnormalities in 6 of 13 (46.2%), brachycephaly in 5 of 14 (35.7%), and scoliosis and paroxysms of laughter each in 4 of 14 (28.6%). We suggest that these are features of the IQSEC2-related disorder. Gastrostomy requirement, plagiocephaly, strabismus and cortical blindness, each seen in 2 of 14 (14.3%), may also be associated. Shared facial features were noted in 8 of 14 patients, and shared hair patterning was identified in 5 of 14 patients. This study further delineates the IQSEC2 phenotypic spectrum and supports the notion of an emerging IQSEC2 syndrome. We draw parallels between the IQSEC2-related disorder and the Angelman-/Rett-/Pitt-Hopkins syndrome group of conditions and recommend the addition of IQSEC2 to epilepsy and developmental delay gene panels. We observed discordant phenotypes in monozygotic twins and apparent gonadal mosaicism, which has implications for recurrence risk counselling in the IQSEC2-related disorder.
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PMID:Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. 3066 32