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

Nearly drowned children sustaining cardiac or respiratory arrest or altered neurologic status developed anoxic encephalopathy (30%), died in the ensuing days (36%), or were discharged neurologically normal (34%). In encephalopathic children, spasticity was more malignant than in children with other causes of spasticity. The most common musculoskeletal problem was contracture, especially equinus, hip adductor, hamstring, and quadriceps. Hip subluxation or dislocation occurred in 34% as early as 1 month after injury. Scoliosis developed in 18%, with some requiring bracing and surgery. Thirty-one percent ambulated, and the rest were quadriplegic. Independent sitting or better function by discharge was a predictor of ambulation potential. Of the quadriplegics, 66% were dependent sitters.
 ...
PMID:Musculoskeletal consequences of near-drowning in children. 201 May 14

We reviewed nine patients with Rett syndrome, a progressive encephalopathy that is being diagnosed more frequently in the United States. It occurs in females, causing mental deterioration, autistic behavior, and classic hand-wringing motion. The orthopaedic manifestations include scoliosis, lower extremity contracture, and coxa valga. Bracing and surgery are indicated to prevent or correct deformity and maintain ambulation.
 ...
PMID:Orthopaedic manifestations of Rett syndrome. 201 May 22

We evaluated, at our institute, 70 females with Rett syndrome between 2 1/2 to 34 1/2 years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of life, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been established.
 ...
PMID:Rett syndrome--natural history in 70 cases. 308 4

Ten children with neuromuscular scoliosis and pelvic obliquity had revision spinal instrumentations and fusions performed at an average age of 14.7 years. The initial spinal deformity in all children was the result of static encephalopathy with nine children diagnosed as having spastic cerebral palsy without another specific diagnosis and one child diagnosed as also having Noonan syndrome. All 10 children had a revision performed after the first surgery, and two of the 10 children underwent a second revision because of failure of rod cross-links. The indications for revision surgery were symptomatic recurrent deformity, symptomatic pseudoarthrosis, or perforation of one leg of the unit rod through the pelvis. The average time between the first and second surgery was 2.7 years, and from revision to final follow-up was 2.5 years. The goal of providing symptomatic relief and correction of deformity was accomplished in nine of 10 children; however, two of the nine required two revisions. One patient continues to have a residual painful pseudoarthrosis. The two postoperative complications requiring further surgery were related to the failure of rod connectors.
 ...
PMID:Revision spine surgery in children with cerebral palsy. 911 12

Conventional management of gastroesophageal reflux (GER) and hiatus hernia in children affected with encephalopathy can deteriorate their pulmonary function, already compromised by their leaning position and their spine deformations. The results after laparoscopic surgery for GER in 6 encephalopathy children are reviewed; their ages ranged from 9 to 14 years, their accompanying diseases were: spastic tetraparesia, hydrocephalus, scoliosis, epilepsy and Reye's syndrome. The laparoscopy procedures followed the same surgical steps as open surgery; the surgical time was 3 to 5 hours; the average hospital stay was 3 days. Oral intake started 8 hours after surgery. The successful results of these first cases in this group of patients with neurologic anomalies, suggest that laparoscopic Nissen funduplication is the treatment of choice for GER and hiatus hernia.
 ...
PMID:[Laparoscopic Nissen fundoplication in children with encephalopathy]. 937 34

We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described.
 ...
PMID:Infantile and juvenile presentations of Alexander's disease: a report of two cases. 1010 Sep 59

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
 ...
PMID:Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 1261 69

The case of a male infant with neonatal encephalopathy and a de novo MECP2 mutation is reported. The presenting phenotype of decelerating head growth, spasticity, scoliosis, and central respiratory disturbance raised suspicions of the diagnosis. Neonatal encephalopathy in males is part of a spectrum of disorders caused by MECP2 dysfunction.
 ...
PMID:Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. 1271 1

Cerebral palsy is a common static encephalopathy and can present as multiple musculoskeletal problems. Increased peripheral muscle tone causes joint contractures and decreased functional capacity. The risk for scoliosis increases parallel with the severity of musculoskeletal involvement. Scoliosis adversely affects the functional capacity, daily care, and nutrition in disabled children. Conservative treatments including physical therapy, bracing, and botulinum toxin injections do not prevent the progression of scoliosis in most of the patients and surgical treatment becomes mandatory. With the use of pedicle screws, three-plane fixation is possible, making posterior instrumentation and fusion effective in correction of severe curves and obviating anterior surgery.
 ...
PMID:[Cerebral palsy and spinal deformities]. 1944 55

Mitochondrial disorders are frequently encountered inherited diseases characterized by unexplained multisystem involvement with a chronic, intermittent, or progressive nature. The objective of this paper is to describe the profile of patients with mitochondrial disorders in South Africa. Patients with possible mitochondrial disorders were accessed over 10 years. Analyses for respiratory chain and pyruvate dehydrogenase complex enzymes were performed on muscle. A diagnosis of a mitochondrial disorder was accepted only if an enzyme activity was deficient. Sixty-three patients were diagnosed with a mitochondrial disorder, including 40 African, 20 Caucasian, one mixed ancestry, and two Indian patients. The most important findings were the difference between African patients and other ethnicities: respiratory chain enzyme complexes CI+III or CII+III deficiencies were found in 52.5% of African patients, being of statistical significance (p value = 0.0061). They also presented predominantly with myopathy (p value = 0.0018); the male:female ratio was 1:1.2. Twenty-five (62.5%) African patients presented with varying degrees of a myopathy accompanied by a myopathic face, high palate, and scoliosis. Fourteen of these 25 also had ptosis and/or progressive external ophthalmoplegia. No patients of other ethnicities presented with this specific myopathic phenotype. Caucasian patients (16/20) presented predominantly with central nervous system involvement. Of the South African pediatric neurology patients, Africans are more likely to present with myopathy and CII+III deficiency, and Caucasian patients are more likely to present with encephalopathy or encephalomyopathy.
 ...
PMID:An overview of a cohort of South African patients with mitochondrial disorders. 2013 31


1 2 3 Next >>