Cases reported "Osteoporosis"

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1/54. Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

    Mutations in the type I collagen genes have been identified as the cause of all four types of osteogenesis imperfecta (OI). We now report a mutation that extends the phenotype associated with structural abnormalities in type I collagen. Two siblings presented with a history of back pain and were diagnosed with juvenile osteoporosis, based on clinical and radiological examination. Radiographs showed decreased lumbar bone density and multiple compression fractures throughout the thoracic and lumbar spines of both patients. One child has moderate short stature and mild neurosensory hearing loss. However, neither child has incurred the long bone fractures characteristic of OI. Protein studies demonstrated electrophoretically abnormal type I collagen in samples from both children. Enzymatic cleavage of rna:rna hybrids identified a mismatch in type I collagen alpha2 (COL1A2) mRNA. dna sequencing of COL1A2 cDNA subclones defined the mismatch as a single-base mutation (1715G --> A) in both children. This mutation predicts the substitution of arginine for glycine at position 436 (G436R) in the helical domain of the alpha2(I) chain. Analysis of genomic dna identified the mutation in the asymptomatic father, who is presumably a germ-line mosaic carrier. The presence of the same heterozygous mutation in two siblings strongly suggests that the probands display the full phenotype. Taken together, the clinical, biochemical, and molecular findings of this study extend the phenotype associated with type I collagen mutations to cases with only spine manifestations and variable short stature into adolescence.
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keywords = back pain
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2/54. pregnancy-associated osteoporosis with elevated levels of circulating parathyroid hormone-related protein: a report of two cases.

    Two lactating women who had complained of back pain developed spontaneous vertebral fractures with low bone mineral density (BMD) several months postpartum. The back pain and biochemical abnormalities presented as hypercalcemia and elevated plasma levels of the parathyroid hormone-related protein (PTH-rP) that returned to normal indices with increasing BMD after weaning. The increased circulating PTH-rP might contribute to the pregnancy-associated osteoporosis in women who probably are already osteopenic.
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3/54. Mitochondrial dna deletion associated oxidative stress and severe male osteoporosis.

    We have screened the mitochondrial genome of 15 men with symptomatic vertebral fractures (median age 62 years, range 27-72 years) and 17 male control subjects (median age 61 years, range 40-73 years) for the presence of mitochondrial dna (mtDNA) deletions in peripheral monocyte dna. polymerase chain reaction analysis provided evidence of a common age-related (4.9 kb) mtDNA deletion situated between nucleotides 8470 and 13.460 of the genomic sequence in 5 of the 17 controls (29%) and 9 of the 15 patients (60%) investigated. Southern blotting and polymerase chain reaction revealed a novel 3.7 kb deletion in 2 patients. One of the affected patients, a 27-year-old man with severe osteoporosis (lumbar spine bone mineral density (BMD) 0.381 g/cm(2); Z-score -6.45) was found to harbor deletion in almost 50% of the mitochondria. The patient had a blood lactic acid level (4.6 nM) that was over 3 times the upper reference range (0-1.3 mM), thus confirming the presence of systemic oxidative stress. Further analysis by modified primer shift polymerase chain reaction showed the 5' breakpoint to be between the nucleotides 10.63 kb and 10.80 kb of the mtDNA. The second patient harboring the 3.7 kb deletion was older (62 years) with less severe osteoporosis (lumbar spine BMD 0.727/cm(2); Z-score -2.58) and the proportion of affected mitochondria was lower (25%). The significance of these findings is discussed and the possible relation between oxidative stress and accelerated bone loss is examined.
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keywords = upper
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4/54. Vertebral rarefaction in acute lymphoblastic leukaemia.

    A 16-year-old boy is reported in whom back pain, due to localised osteoporosis and partial collapse of a lumbar vertebra, drew attention to unsuspected acute lymphoblastic leukaemia. The patient responded promptly to induction therapy, his symptoms disappeared, and he is presently in the maintenance programme. The skeletal lesion continues to heal slowly. attention is drawn to this unusual presentation of acute lymphoblastic leukaemia, and the importance of bone-marrow examination in the study of unexplained cases of osteoporosis is emphasised.
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keywords = back pain
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5/54. A case of postpregnancy osteoporosis.

    A puerperant woman, who was previously healthy and had no disease known to affect bone metabolism, experienced lower back pain and lumbar vertebral fractures during lactation. Both bone formation markers and resorption markers were markedly elevated. Bone mineral density of the lumbar spine as measured by dual energy X-ray absorptiometry was extremely low. She stopped lactation through the use of bromocriptine because of the large volume of milk secretion. After treatment with calcitonin injections and the use of a corset, her back pain gradually disappeared. This case appears to be postpregnancy osteoporosis.
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6/54. Posterior spinal shortening for paraplegia after vertebral collapse caused by osteoporosis.

    STUDY DESIGN: Case report of a patient who underwent a new surgical procedure for paraplegia after vertebral collapse due to osteoporosis. OBJECTIVES: To propose a new approach to posterior spinal fusion surgery for osteoporotic patients. SUMMARY OF BACKGROUND DATA: Surgical treatment was performed on a paraplegic patient after vertebral collapse due to osteoporosis. However, the surgery was difficult because implants such as hooks and screws often dislodged during the treatment. The poor holding power of these implants to the osteoporotic spine is a challenging problem in this treatment. methods: When a fractured vertebra is shortened by resecting the posterior part of the spine and the application of a compression force, a short vertebra is produced. As a result, the thoracic kyphosis decreases and the force pushing the upper thoracic spine inferio-ventrally also decreases. RESULTS: A 74-year-old woman with T12 vertebral collapse was treated with this new method. Lateral Cobb angle (T10-L2) was reduced from 26 to 4 degrees after surgery. The shortened vertebral body united, and after 33 months, the implant had not dislodged and no loss of correction was seen. CONCLUSION: The posterior spinal shortening can be a choice for treating delayed paraplegia after osteoporotic vertebral fracture.
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keywords = upper
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7/54. male osteoporosis associated with longterm cyproterone treatment.

    A 58-year-old man with previous dorsal vertebral fractures was referred for continuing management of osteoporosis. He was treated in the past with cyproterone acetate for hypersexuality. There were no other risk factors for osteoporosis. A dual energy radiographic absorptiometry scan confirmed osteoporosis. Treatment with alendronate 10 mg/day improved bone density and back pain. patients receiving longterm treatment with cyproterone might be at risk for developing osteoporosis and would benefit from regular bone density monitoring.
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8/54. Changes in biochemical parameters of bone turnover and bone mineral density in post-pregnancy osteoporosis.

    A lactating 32-year-old woman in whom severe back pain developed 5 months after delivery is described. Cross-linked carboxyterminal telopeptide of type I collagen and pyridinoline, which are parameters of bone resorption, was markedly elevated with low bone mineral density. A high level of bone resorption was associated with post-pregnancy osteoporosis.
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9/54. Recovery from severe glucocorticoid-induced osteoporosis in an adolescent boy.

    An 18-yr-old boy presented with extreme back pain as the result of multiple vertebral fractures. At age 16 he had developed a tumor of the mesencephalon. A ventriculoperitoneal shunt was established surgically. One year later, he developed progressive neurologic deficits in his upper and lower limbs with an increase in the size of the tumor. He was treated by irradiation and high doses of glucocorticoids. Although the neurologic deficits progressively improved, he developed severe back pain resulting in complete immobilization for 3 mo in spite of neurologic recovery. Multiple vertebral fractures were diagnosed by X-ray. bone density was extremely low (Z-score of -5.5 in the spine and -3.1 in the femoral neck). The patient was treated with calcium and vitamin d, calcitonin, bisphosphonates, physiotherapy, and progressive mobilization. glucocorticoids were decreased and could be stopped as the neurologic deficits fully recovered. After 1 yr of treatment with intermittent i.v. pamidronate, bone density had increased by 40% in the spine and by 25% in the femoral neck despite growth arrest. He progressively recovered from back pain and is now, at age 20, fully ambulant, studying mechanical engineering, without neurologic sequelaes and free of glucocorticoids. magnetic resonance imaging revealed that the tumor had disappeared. This case proves that treatment of symptomatic glucocorticoid-induced osteoporosis during puberty can be rewarding, even when multiple and invalidating vertebral fractures already exist.
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ranking = 3.0006031453474
keywords = back pain, upper
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10/54. Vertebral compression and eosinophilia in a child with acute lymphatic leukemia.

    A 10-year-old girl, presenting with fever, eosinophilia, and back pain, was diagnosed with pre-B CD10-positive acute lymphoblastic leukemia. eosinophilia resolved rapidly during remission induction treatment, but diffuse spinal osteopenia with multiple compression fractures became manifest after 4 weeks. During subsequent treatment the spine remineralized slowly, and after 26 months vertebral bone regeneration was apparent. eosinophilia and osteopenia are separately known as early manifestations of acute lymphoblastic leukemia, but their simultaneous occurrence is particularly interesting. A late bone marrow relapse was not accompanied by bone changes or eosinophilia.
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