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

Progressive structural scoliosis in growing rabbits has been produced. Tethering the thoracic spine into the form of an asymmetric lordosis produces a slowly progressive structural scoliosis by purely mechanical means. The addition of a contralateral release of the paraspinal muscles leads to a very progressive deformity with early cardiorespiratory failure. This release, however, was performed with an electric soldering iron and subsequent study showed that in those animals with severe progressive deformity there was localised spinal cord damage. We suggest that it is this neural damage and not the muscle release which leads to rapid progression. The clinical implications are important in that neurological dysfunction seems to render the spinal column less able to resist mechanical buckling and may be the crucial factor differentiating severely progressive from more benign curves.
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PMID:Experimental structural scoliosis. 361 Nov 61

In a preliminary study the spinal processes of the curve and the parietal bone in idiopathic scoliosis were analyzed in 10 patients by atom absorption spectrophotometry during dorsal fusion operations using the Harrington instrumentarium. In addition to calcium and magnesium, the trace elements iron, copper, manganese and zinc were determined. For comparison, bone samples were taken from the pelvic ridges of the patients, as well as control biopsies from the pelvic ridges of 21 healthy patients in the clinic who were of the same age. The bone samples had been taken from the latter during surgery for pseudarthrosis. The statistical analysis of the mineral and trace elements showed that there is no local disturbance of mineral and trace element metabolism in idiopathic scoliosis; a comparison of the bone samples from the scoliosis patients with the normal values also largely ruled out a generalized disturbance of mineral and trace element metabolism in bone tissue in idiopathic scoliosis.
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PMID:[Determination of minerals and trace elements in idiopathic scoliosis]. 670 66

Hair samples were collected from 74 patients with idiopathic adolescent scoliosis and from 25 control children and were analyzed for content of the following minerals: copper, sodium, iron, zinc, potassium, magnesium, cadmium, calcium, and manganese. The hair copper level of the scoliotic children was significantly higher than that of the controls. The scoliosis mean was 6.5 micrograms/dl and the control mean was 3.6 micrograms/dl, P less than 0.025. There was no correlation between the amount of hair copper and the severity of the scoliosis. The authors suggest that copper may be a factor in the development of scoliosis since it is part of the lysyl oxidase enzymes that are required for cross-linking of collagen and elastin. Another connection is that postpubertal girls have higher copper levels than boys and also have a greater severity of scoliosis.
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PMID:Elevated hair copper level in idiopathic scoliosis: preliminary observations. 739 62

Four patients whose religious beliefs prohibited accepting blood during surgery for scoliosis were anesthetized and managed successfully using plateletpheresis and plasmapheresis. Blood losses were replaced with crystalloid and hetastarch solutions. In addition, a moderate hypotensive technique was used to minimize surgical blood loss. Postoperatively, the patients received iron therapy and/or erythropoietin. Three of these patients had an uncomplicated postoperative course, however, the fourth patient had some postoperative bleeding with initial hemodynamic instability. We believe that patients who refuse to receive blood transfusion during surgery because of religious beliefs or health issues can be managed safely using other alternatives and techniques such as plateletpheresis and plasmapheresis, which conserve and minimize blood loss. Each case should be assessed on an individual basis.
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PMID:Management of Jehovah's Witness patients for scoliosis surgery: the use of platelet and plasmapheresis. 927 43

As thalassemia patients age, bone disease becomes a serious cause of morbidity. The frequency and type of bone disease is affected by the underlying type of thalassemia and its treatment. Problems include rickets, scoliosis, spinal deformities, nerve compression, fractures and severe osteoporosis. In early stages, patients may be asymptomatic but can present with back pain, a limp, dyspnea, neurological emergencies, or sudden fractures. The etiologies are often multifactorial, culminating with increased bone resorption and remodeling. They include hormonal deficiency, bone marrow expansion, nutritional deficiency, or desferal toxicity. Particular risk factors include older patients, low baseline hemoglobin, delayed puberty, hormonal failure, and high iron stores. Nutritional deficiencies may further compound the patient's risk for bone disease. Increasing evidence suggests that these complications and their associated long-term morbidity can be prevented if an annual screening is done, followed by long-term intervention. Patients treated with amino biphosphonates inhibit bone resorption and may demonstrate rapid healing. Intra-nasal calcitonin has also been successful in treating osteopenia. Early use of estrogen and testosterone appears to markedly lower the risk for selective patients. Both transfused and non-transfused patients should be educated about risk factors and early symptoms. All patients should be screened annually for bone disease. Once adolescence occurs, annual testing in selected cases should include bone density studies with X-ray absorptiometry.
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PMID:The morbidity of bone disease in thalassemia. 966 56

Recessive N-ethyl-N-nitrosourea (ENU)-induced mutations recovered at the fitness-1 (fit1) locus in mouse chromosome 7 cause hematopoietic abnormalities, growth retardation, and shortened life span, with varying severity of the defects in different alleles. Abnormal iron distribution and metabolism and frequent scoliosis have also been associated with an allele of intermediate severity (fit14R). We report that fit14R, as well as the most severe fit15R allele, are nonsense point mutations in the mouse ortholog of the human phosphatidylinositol-binding clathrin assembly protein (PICALM) gene, whose product is involved in clathrin-mediated endocytosis. A variety of leukemias and lymphomas have been associated with translocations that fuse human PICALM with the putative transcription factor gene AF10. The Picalmfit1-5R and Picalmfit1-4R mutations are splice-donor alterations resulting in transcripts that are less abundant than normal and missing exons 4 and 17, respectively. These exon deletions introduce premature termination codons predicted to truncate the proteins near the N and C termini, respectively. No mutations in the genes encoding Picalm, clathrin, or components of the adaptor protein complex 2 (AP2) have been previously described in which the suite of disorders present in the Picalmfit1 mutant mice is apparent. These mutants thus provide unique models for exploring how the endocytic function of mouse Picalm and the transport processes mediated by clathrin and the AP2 complex contribute to normal hematopoiesis, iron metabolism, and growth.
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PMID:Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice. 1283 20

Chronic muscle pain (myalgia) is a common problem throughout the world. Seemingly simple, it is actually a difficult problem for the clinician interested in determining the aetiology of the pain, as well as in managing the pain. The two common muscle pain conditions are fibromyalgia and myofascial pain syndrome. Fibromyalgia is a chronic, widespread muscle tenderness syndrome, associated with central sensitisation. It is often accompanied by chronic sleep disturbance and fatigue, visceral pain syndromes like irritable bowel syndrome and interstitial cystitis. Myofascial pain syndrome is an overuse or muscle stress syndrome characterised by the presence of trigger points in muscle. The problem these syndromes pose lies not in making the diagnosis of muscle pain. Rather, it is the need to identify the underlying cause(s) of persistent or chronic muscle pain in order to develop a specific treatment plan. Chronic myalgia may not improve until the underlying precipitating or perpetuating factor(s) are themselves managed. Precipitating or perpetuating causes of chronic myalgia include structural or mechanical causes like scoliosis, localised joint hypomobility, or generalised or local joint laxity; and metabolic factors like depleted tissue iron stores, hypothyroidism or Vitamin D deficiency. Sometimes, correction of an underlying cause of myalgia is all that is needed to resolve the condition.
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PMID:A review of myofascial pain and fibromyalgia--factors that promote their persistence. 1625 10

Friedreich's Ataxia (FA) is the commonest genetic cause of ataxia and is associated with the expansion of a GAA repeat in intron 1 of the frataxin gene. Iron accumulation in the mitochondria of patients with FA would result in hypersensitivity to oxidative stress. Mitochondrial DNA (mtDNA) could be considered a candidate modifier factor for FA disease, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of this disease. We studied 25 Iranian patients (16 females and 9 males) from 12 unrelated families. DNA from each patient was extracted and frequency and length of (GAA)(n) repeat was analyzed using a long-range polymerase chain reaction (PCR) test. Also we investigated impact of GAA size on neurological findings, age of onset and disease development. In order to identify polymorphic sites and genetic background, the sequence of two hypervariable regions (HVR-I and HVR-II) of mtDNA was obtained from FA patients harbouring GAA trinucletide expansions. Alignment was made with the revised cambridge reference sequence (rCRS) and any differences recorded as single base substitution (SBS), insertions and deletions. Homozygous GAA expansion was found in 21 (84%) of all cases. In four cases (16%), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, ataxia, scoliosis and pes cavus, cardiac abnormalities and some neurological findings occurred more frequently than in our patients without GAA expansion. Molecular analysis was imperative for diagnosis of Friedreich's ataxia, not only for typical cases, but also for atypical ones. Diagnosis bases only on clinical findings is limited, however, it aids in better screening for suspected cases that should be tested. Our results showed that the rate of D-loop variations was higher in FA patients than control (P<0.05). mtDNA deletions were present in 76% of our patients representing mtDNA damage, which may be due to iron accumulation in mitochondria.
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PMID:Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia. 1658 13

Friedreich's ataxia (FA) is one of the genetic syndromes sometimes associated with diabetes and the most common hereditary ataxia. It is a autosomal recessive neurodegenerative disease, caused by a mutation in the FRDA gene, which originates decreased expression of frataxin, a mitochondrial protein involved in iron metabolism. The disorder is usually manifest in childhood and is characterised by ataxia, dysarthria, scoliosis and feet deformity. About two thirds of patients have hypertrophic cardiomyopathy, 10% have diabetes and 20% have another glucose homeostasis disorder. Both insulin resistance and beta-cell dysfunction are implicated in this patients' diabetes pathophysiology. The mean half-life is 35 years. Cause of death is usually related to cardiomyopathy or diabetes' complications. We report the case study of two twin sisters with 28 years old, in whom FA was diagnosed in the first decade, both of them with diabetes since their early twenties. A third sister with FA is reported, with no glucose homeostasis disorder. They also have two healthy male brothers. Based in this cases, the FA associated diabetes pathophysiology is discussed, concerning the therapeutic approach to these patients and to their diabetic relatives without neurologic symptoms. The role of molecular genetic testing and genetic counselling are also debated.
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PMID:[Friedreich ataxia and diabetes mellitus--family study]. 1668 89

This review concerns the development of small molecule therapeutics for the inherited neurodegenerative disease Friedreich ataxia (FRDA). FRDA is caused by transcriptional repression of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin and accompanying loss of frataxin protein. Frataxin insufficiency leads to mitochrondrial dysfunction and progressive neurodegeneration, along with scoliosis, diabetes and cardiomyopathy. Individuals with FRDA generally die in early adulthood from the associated heart disease, the most common cause of death in FRDA. While antioxidants and iron chelators have shown promise in ameliorating the symptoms of the disease, there is no effective therapy for FRDA that addresses the cause of the disease, the loss of frataxin protein. Gene therapy and protein replacement strategies for FRDA are promising approaches; however, current technology is not sufficiently advanced to envisage treatments for FRDA coming from these approaches in the near future. Since the FXN mutation in FRDA, expanded GAA.TTC triplets in an intron, does not alter the amino acid sequence of frataxin protein, gene reactivation would be of therapeutic benefit. Thus, a number of laboratories have focused on small molecule activators of FXN gene expression as potential therapeutics, and this review summarizes the current status of these efforts, as well as the molecular basis for gene silencing in FRDA.
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PMID:Small molecules affecting transcription in Friedreich ataxia. 1782 40


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