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)

Ninety-two individuals with myotonic dystrophy (MD) were evaluated prospectively over a 10-yr period and separated into two types, 75 noncongenital (NC-MD) and 17 congenital (C-MD) MD. Muscle weakness was relatively mild and similar in both types, 4.0 +/- 0.7 manual muscle test (MMT) scores for NC-MD and 3.8 +/- 0.7 in C-MD. However, weakness was progressive in the former, -0.36 MMT units per decade, and nonprogressive in C-MD. Weakness was usually generalized in both types, with no significant differences between upper and lower extremities or the proximal and distal muscles. Flexor and extensor differences were variable. Quantitative strength measurements showed a similar pattern but were more sensitive showing marked strength losses of 40-50% in muscle groups with MMT scores of four or more. There was a high frequency (47%) of relatively mild, nonprogressive scoliosis in C-MD, whereas spine deformity was unusual in NC-MD. Contractures, usually at the ankles, were also more common in C-MD. In NC-MD and C-MD, respectively, there was a low frequency of severe restrictive lung disease (14 and 20%) but a high percentage of significant electrocardiographic (ECG) abnormalities (75 and 81%), including conduction defects. There was a marked difference between the two types of MD in intellectual and cognitive function. Seventy-five percent of C-MD subjects showed impairment, frequently severe, compared with 35% impairment, usually mild, for NC-MD individuals. Functional evaluation was not markedly affected, but timed motor performance showed significant disability especially for individuals with C-MD.
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PMID:Profiles of neuromuscular diseases. Myotonic dystrophy. 757 18

Sixty-seven children (40 girls and 27 boys) suffering from primary mitral valve prolapse (MVP) were studied. The age of these subjects was 5 to 18 years with the mean 12.8 +/- 3.3 years. MVP was diagnosed on the basis of physical and echocardiographic examination. In every case following studies were performed: routine and 24-hours ECG (according to Holter method), echocardiography, and physical performance test (according to Bruce protocol). The cause of referring the child to cardiologist were: cardiac murmur with/or midsystolic click in 85%, chest pain in 31%, feeling of cardiac palpitations in 40%, loss of consciousness in 40%, increased fatigability in 22%, feeling of dyspnoea in 10.5% (there were often more than one symptom in the same subject). Familial inheritance of MVP was suggested in over 20% of our patients. Asthenic constitution with orthopedic disorders (e.g. important scoliosis, pectus excavatum etc.) was found in about 20% of studied children. In 15% so called silent MVP was recognized. In 19% of subjects mitral valve leaflets inspection indicated their thickening and redundancy. In 67% routine ECG showed abnormalities of cardiac rhythm, conduction or repolarization. During Holter monitoring rhythm disturbances were detected in 22% of patients. Physical performance test results were normal in every case.
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PMID:Clinical characteristics of primary mitral valve prolapse syndrome in children. 761 Jul 38

Minicore myopathy is a congenital myopathy characterized by multifocal areas of degeneration in muscle fibres. Genetic heterogeneity expected on the basis of clinical variability awaits further resolution. We reviewed 19 cases in order to further delineate the phenotype. Marked hypotonia was the predominant presenting feature, with evidence of antenatal onset in 30% of cases. Weakness was most pronounced axially and proximally, often more severely affecting the shoulder girdle. Mild facial involvement was frequent. Varying degrees of scoliosis were obvious in all patients older than 10 years. In addition, two patients who were also the most severely affected had complete external ophthalmoplegia. One patient showed marked distal involvement. Respiratory failure developed in half of all patients after 10 years of age and correlated strongly with the degree of scoliosis. Cardiac involvement occurred mainly secondary to respiratory impairment. The course appeared static in most cases. Loss of independent walking was observed only in one case at the age of 10 years. On ultrasound scan, differential involvement within the quadriceps was documented in several patients. Variability in fibre size, type 1 predominance and atrophy with occasional type 2 hypertrophy were prominent but nonspecific histological changes. Apart from typical minicores, a marked increase in internal nuclei was the most prominent histological feature. With the exception of one family in which two generations were affected, inheritance appeared autosomal-recessive or sporadic in all cases.
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PMID:Minicore myopathy in children: a clinical and histopathological study of 19 cases. 1083 53

The act of breathing depends on coordinated activity of the respiratory muscles to generate subatmospheric pressure. This action is compromised by disease states affecting anatomical sites ranging from the cerebral cortex to the alveolar sac. Weakness of the respiratory muscles can dominate the clinical manifestations in the later stages of several primary neurologic and neuromuscular disorders in a manner unique to each disease state. Structural abnormalities of the thoracic cage, such as scoliosis or flail chest, interfere with the action of the respiratory muscles-again in a manner unique to each disease state. The hyperinflation that accompanies diseases of the airways interferes with the ability of the respiratory muscles to generate subatmospheric pressure and it increases the load on the respiratory muscles. Impaired respiratory muscle function is the most severe consequence of several newly described syndromes affecting critically ill patients. Research on the respiratory muscles embraces techniques of molecular biology, integrative physiology, and controlled clinical trials. A detailed understanding of disease states affecting the respiratory muscles is necessary for every physician who practices pulmonary medicine or critical care medicine.
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PMID:Disorders of the respiratory muscles. 1282 94

A retrospective analysis of charts identified cases of superior mesenteric artery (SMA) syndrome occurring after scoliosis surgery over a 23-year period. Despite numerous reports on this potentially fatal complication of scoliosis surgery, no method exists to stratify patients for risk of developing disease after spine surgery. A study of charts was performed to identify all cases of SMA syndrome occurring after scoliosis surgery from 1972 to 1995. An upper gastrointestinal study with findings specific for the syndrome was requisite for inclusion. Patients' weight and height at the time of diagnosis of SMA syndrome were recorded. Based on standard national data tables, a percentile for weight, percentile for height, and a weight percentile for height were derived for each patient. The syndrome occurred after posterior spinal fusion in six patients (three boys, three girls). The average weight percentile for height, available in five of the six patients, was 3%, significantly different from both age-matched controls in the general population and from age-matched controls undergoing posterior spinal fusion for adolescent idiopathic scoliosis. This study, the largest reported from a single institution, suggests that a weight percentile for height of 5% is the degree of asthenia that allows compromise of the duodenum. The percentile identifies patients at risk for SMA syndrome for the purposes of increasing postoperative vigilance for gastrointestinal complaints, decreasing the threshold for diagnostic workup, and guiding perioperative dietary supplementation.
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PMID:Superior mesenteric artery syndrome in scoliosis surgery: weight percentile for height as an indicator of risk. 1296 Jun 34

The entity of an occult tight filum terminale syndrome, characterized by clinical findings consistent with a tethered cord syndrome, but with the conus ending in a normal position, has been recognized recently. The indications for sectioning the filum terminale in this situation are not well characterized and are controversial. We report a retrospective review of a consecutive series of 60 children (ages 3-18 years) with a diagnosis of occult tight filum terminale syndrome who underwent section of the filum and were followed for more than 6 months (mean 13.9 months). The criteria for surgical intervention were (1) spina bifida occulta, (2) progressive bladder instability unresponsive to conservative measures, (3) urological/nephrological evaluation to confirm or rule out nonneurogenic etiology, and (4) two or more of the following: (a) bowel involvement (fecal incontinence or chronic constipation), (b) lower extremity weakness, (c) gait changes, (d) reflex/tone abnormalities, (e) sensory disturbances, (f) back/leg pain, (g) orthopedic abnormalities/limb length discrepancy, (h) scoliosis/lordosis, (i) recurrent urinary tract infections, (j) abnormal voiding cystourethrogram/ultrasound, (k) syringomyelia, and (l) neurocutaneous stigmata. Postoperatively, urinary incontinence/retention showed complete resolution in 52%, marked improvement (>95% resolution) in 35%, moderate improvement (>75%) in 6%, minimal improvement (> 50%) in 6%, and no improvement (<50%) in 2%. Fecal incontinence completely resolved in 56%, improved in 41%, and was unchanged in 3%. Weakness, sensory abnormalities, and pain improved or resolved in all patients.
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PMID:Occult tight filum terminale syndrome: results of surgical untethering. 1588 17

Because of 10.94% frequency in obese recruits in Rijeka in 2005 occupational medicine decided to study causality of that and other most frequent diagnoses: pedes plani, myopia and astigmatism, kyphosis and scoliosis, asthma, hypertension and branch block. Double monitoring of 1,311 recruits was carried out by a transversal study during 2005, 2000 and 1995 and within each year according to location: city, suburbs, islands. The differences in the three periods in the city were obesity (p < 0.05) with highest frequency in 2005, asthenia (p < 0.05) with lowest frequency 0.99% in 2005, and pedes plani (p < 0.05) with highest frequency in 1995. Suburbs showed (p < 0.05) forpedes plani, p = 0.054 for obesity, and the islands obesity (p < 0.05). Myopia and astigmatism frequency went up to 25%, kyphosis to 14.13% and asthma to 5.43%. Hypertension frequency was negligible. Occupational medicine decided to react by measures increasing recruit fitness cooperating with school medicine, teachers and parents, by check-ups, corrections, dieting and physical activities.
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PMID:Measures for achieving recruits' enhanced fitness--a transversal study. 1705 29

Adolescent idiopathic scoliosis is defined as a lateral curvature of the spine that can occur in any region of the spinal column. For curves that require surgical correction, spinal fusion is the surgical treatment, and superior mesenteric artery syndrome is a possible complication. Risk factors for superior mesenteric artery syndrome include a small aorta-superior mesenteric artery angle, spinal lengthening, and an asthenic habitus. Asthenic habitus may be due to natural build, peptic ulcer disease, or anorexia, especially among adolescent females. Research regarding adolescent idiopathic scoliosis and superior mesenteric artery syndrome is warranted to identify if some adolescents are more likely to develop superior mesenteric artery syndrome. The advanced practice nurse can identify which adolescents may develop superior mesenteric artery syndrome and provide safe care to avoid this complication.
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PMID:Scoliosis, superior mesenteric artery syndrome, and adolescents. 1727 3

We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via the detection of reducing bodies in muscle biopsy sections stained with menadione-NBT followed by clinical, histological, ultrastructural and molecular genetic analysis. A total of 11 patients from nine families were included in this study, including seven sporadic patients with early childhood onset disease and four familial cases with later onset. Weakness in all patients was progressive, sometimes rapidly so. Respiratory failure was common and scoliosis and spinal rigidity were significant in some of the patients. Analysis of muscle biopsies confirmed the presence of aggregates of FHL1 positive material in all biopsies. In two patients in whom sequential biopsies were available the aggregate load in muscle sections appeared to increase over time. Ultrastructural analysis revealed that cytoplasmic bodies were regularly seen in conjunction with the reducing bodies. The mutations detected were exclusive to the second LIM domain of FHL1 and were found in both sporadic as well as familial cases of reducing body myopathy. Six of the nine mutations affected the crucial zinc coordinating residue histidine 123. All mutations in this residue were de novo and were associated with a severe clinical course, in particular in one male patient (H123Q). Mutations in the zinc coordinating residue cysteine 153 were associated with a milder phenotype and were seen in the familial cases in which the boys were still more severely affected compared to their mothers. We expect the mild end of the spectrum to significantly expand in the future. On the severe end of the spectrum we define reducing body myopathy as a progressive disease with early, but not necessarily congenital onset, distinguishing this condition from the classic essentially non-progressive congenital myopathies.
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PMID:Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 1918 72

Scoliosis is a frequent complication in the non-ambulant patient with Duchenne muscular dystrophy (DMD). Weakness of the paraspinal muscles leads to trunk and body positional changes facilitating the development of a progressive collapsing scoliosis which inevitably interferes with comfortable sitting and may exacerbate deteriorating respiratory function. The recommended international standard of care for management of DMD includes strategies to prolong ambulation which may delay the onset of scoliosis. In the non-ambulant child there should be regular monitoring for scoliosis and, when present, surgical treatment should undertaken at an early stage. Careful multi-disciplinary pre-operative assessment and peri-operative care are essential.
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PMID:Scoliosis in Duchenne muscular dystrophy (DMD). 2374 43


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