Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 27-year-old, non-retarded male with trisomy 8 mosaicism (46,XY/47,XY,+8) had a short head, a short broad-bridged nose, a protruding upper lip, pterygium colli, moderate kypho-scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radiographic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self-confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.
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PMID:Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution. 91 39

A five year old boy is reported with typical signs of Trisomy 8-Syndrome: long, narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic ears, deep palmar and plantar furrows, scoliosis, and only mild retardation. The karyotype in 150 lymphocytes was normal. In fibroblast culture mosaicism was found: 46,XY/47,XY,+8.
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PMID:[Extreme tissue mosaicism in trisomy 8 syndrome. Trisomy 8 in fibroblasts and normal karyotype in lymphocytes]. 663 18

A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.
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PMID:46,XY/48,XXY, +8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome. 729 50

This is a retrospective study of 11 patients, 7 females and 4 males, treated at Our Department for an early onset scoliosis (EOS) associated with rare syndromes with growing spinal implants (Growing Rod or VEPTR-like) from 2006 to 2011. Mean follow-up was 24 months (range, 12 to 36). The mean age at surgery was 7. Patients were affected by Escobar's syndrome (1), scoliosis associated to congenital heart disease (1), Arnold Chiari type 1 (1), syringomyelia (1), NF 1 (2), Prader-Willi syndrome (1), trisomy 8 (1), arthrogryposis (2) and spondylo-rib dysplasia (1). Each patient was studied from the genetic point of view, and were performed: brain-spine MRI, pulmonary function tests, Cardio-US and abdominal US, neuropsychiatric and neurological evaluation, C0-C2 CT scan. After first implant and lengthening procedures (11), the correction of the thoracic curve averaged 50%. Unfortunately, a little loss of correction of the lumbar curve occurred during the follow up. There were 8 post-operative complications, that required revision surgery in 2 cases. Our results confirmed the effectiveness and safety of growing spinal implants in the treatment of early-onset scoliosis in rare syndromes.
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PMID:Surgical treatment for scoliosis associated with rare disease. 2274 21

Early onset scoliosis (EOS) surgery based on growing spinal implants can lead to several complications. Aim of the study was to identify strategies to prevent those complications. A retrospective review was conducted to identify all pediatric patients affected by EOS surgically treated with growing rod or Vertical Expandable Prosthetic Titanium Rib (VEPTR) at our division between 2006 and 2011. Nineteen consecutive patients (8 males, 11 females; mean age 6.8 years) were included. The scoliosis was: idiopathic in 7 cases, congenital in 5, associated with congenital heart disease in 2, with syringomyelia and Arnold Chiari syndrome in 1, with neurofibromatosis type 1 (NF1) in 1, with Prader Willi syndrome in 1, with trisomy 8 in 1, with arthrogryposis in 1. Instrumentation used was: growing rod in 9 patients (dual rod construct in 8 cases, single rod in 1), VEPTR in 10 (always rib to spine construct). At a mean follow-up of 28 months (range, 12 to 55) 12 mechanical complications occurred in 8 of 19 patients treated (42.1%). Among cases treated with growing rod (9) 6 complications occurred in 4 patients (44.4%): revision was performed in 4 cases due to proximal anchors migration, in 2 cases due to a rod breakage. Among cases treated with VEPTR (10) 6 complications occurred in 4 patients (40%): revision was performed in 4 cases due to rib fracture with anchors migration, in 1 case due to vertebral anchor migration and in 1 case due to proximal and distal anchor migration. So, in our series mechanical complications rate was 42.1%. Our strategy to prevent these complications is to use hooks as proximal anchors, to avoid single rod construct and to use a brace as external support until final surgery is performed. If it's possible, is better to substitute VEPTR with a dual Growing Rod implant when patient's age and anatomy permits this.
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PMID:Complications incidence in the treatment of early onset scoliosis with growing spinal implants. 2274 23

We administered general anesthesia for a patient with 8 trisomy mosaic and cerebral palsy. Constitutional 8 trisomy mosaic has been associated with syndromic dysmorphology, corneal opacities, leukemia and trophoblastic disease. In Japan only 4 reports of general anesthesia related with 8 trisomy were found. This patient was a 24-year-old woman (140 cm, 35 kg), with mental retardation, poor body development and severe scoliosis. Since she suffered from repeated serious asthma and pneumonia since childhood, tracheotomy was performed at the age of 9. Epileptic seizures were also seen and antiepileptics were prescribed. This time, general anesthesia was scheduled for the extraction of a maxillary cyst. Anesthesia was induced slowly with sevoflurane from the tracheotomy, followed by rocuronium 25 mg i.v., and maintained with sevoflurane 1.5-2 % and remifentanil 0.05-0.2 microg x kg(-1) x min(-1) Throughout the operation, BIS score fluctuated between 40-60, and stable anesthesia was maintained. We reversed the rocuronium with sugammadex 140 mg promptly. The 8 trisomy mosaic patient is known to have various complications related to circulation and respiration. Careful management is necessary in anesthesia for an 8 trisomy patient.
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PMID:[Anesthetic management of a patient with 8 trisomy mosaic combined with cerebral palsy]. 2478 18