1/286. 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.- - - - - - - - - - ranking = 1keywords = fracture, compression (Clic here for more details about this article) |
2/286. Eighteen fractures in a man with profound mental retardation.A 39-year-old man with generalized tonic clonic epilepsy and profound mental retardation sustained 18 fractures (15 in appendicular and 3 in axial bones) during 19 years. Both femoral necks were fractured, requiring surgical repair. Although he had been on antiepileptic drugs for 35 years, he had no radiographic or biochemical sign of osteomalacia. He had a very low bone mineral density, suggesting osteoporosis. This case illustrates an important medical problem affecting people with developmental disability and a management challenge for their caretakers.- - - - - - - - - - ranking = 2.9389784183839keywords = fracture (Clic here for more details about this article) |
3/286. 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.- - - - - - - - - - ranking = 0.48982973639732keywords = fracture (Clic here for more details about this article) |
4/286. Insufficiency fractures, an often unrecognized diagnosis.diagnosis of sacral insufficiency fractures is difficult since the onset is mild, and usually discomfort is attributed to degeneration of the lumbar spine. Computed tomography and radionuclide bone scans are helpful in making the diagnosis, as regular X-ray and magnetic resonance imaging usually fail to demonstrate the fracture.- - - - - - - - - - ranking = 2.9389784183839keywords = fracture (Clic here for more details about this article) |
5/286. Transient osteoporosis during pregnancy: the perioperative nurse's role.Perioperative nurses are confronted with ever changing demands in their daily practice. Perhaps the greatest challenge, however, is in the care of patients with multi-faceted health problems. These patients require the coordination of many multi-disciplinary team members in attempting to achieve optimum health. This paper will describe the case study of a 28 year old, 26 week primip, who presented to a tertiary care centre with spontaneous bilateral hip fractures of unknown origin. It will further discuss the disease process known as Transient osteoporosis during pregnancy, the surgical approach, and finally, the role of the perioperative nurse in coordinating the patient's perioperative care.- - - - - - - - - - ranking = 0.48982973639732keywords = fracture (Clic here for more details about this article) |
6/286. Severe anorexia nervosa associated with osteoporotic-linked femural neck fracture and pulmonary tuberculosis: a case report.We report a case study of a 38-year-old woman who had been suffering from anorexia nervosa (AN) since the age of 26. Before admittance to our clinic, she weighed 23.8 kg (at a height of 164 cm, 8.8 body mass index [BMI]) but still carried out strenuous physical activities. After good psychotherapeutic response and weight gain (34.4 kg), she accidentally fell and broke her femoral neck-favored as it was by osteoporosis. The X-ray taken before dynamic hip screw implantation coincidentally showed signs of pulmonary tuberculosis (TB), which could then be proven by computed tomography (CT) scans and cultures from a bronchoscopy. Other than lack of appetite and loss of weight, which we attributed to AN, there were no other clinical or biochemical indicators which could have pointed to an earlier TB diagnosis. As a result, the need for screening procedures is discussed. The manifestation of TB during the first weight gain after 12 years of severe malnutrition, during which there were no serious infections, seems to endorse former observations that AN patients appear to be "resistant" to some extent against infectious diseases, a "protection" which may be lost with convalescence and weight gain.- - - - - - - - - - ranking = 1.9593189455893keywords = fracture (Clic here for more details about this article) |
7/286. Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures.We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. electrophoresis of fibroblast collagens detected defects in type III and type V collagen. CONCLUSION: Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.- - - - - - - - - - ranking = 2.4491486819866keywords = fracture (Clic here for more details about this article) |
8/286. A fractured hip during electro-convulsive therapy.Bone injury while undergoing electro-convulsive therapy is thought to be rare. We report a case of hip fracture during treatment which was associated with osteoporosis. patients at increased risk could be identified.- - - - - - - - - - ranking = 2.4491486819866keywords = fracture (Clic here for more details about this article) |
9/286. blindness from bad bones.Progressive visual loss is the most common neurologic finding in osteopetrosis. Several mechanisms may explain this phenomenon, including compression of the optic nerves caused by bony overgrowth of the optic canals and retinal degeneration. We report a child with osteopetrosis and progressive visual loss, even though patent optic canals were demonstrated by computed tomography and digital holography. This patient's visual loss was caused by increased intracranial pressure secondary, to obstruction of cerebral venous outflow at the jugular foramen. This case points to the importance of a full evaluation of the skull base foramina in the diagnostic workup of visual loss in patients with osteopetrosis.- - - - - - - - - - ranking = 0.020340527205352keywords = compression (Clic here for more details about this article) |
10/286. Bilateral acetabular fracture without trauma.In the absence of trauma fracture of the acetabulum is an extremely rare injury. We describe a 70 year old man who spontaneously developed fractures in both acetabulae due to bony insufficiency. It was successfully treated by bilateral total hip replacement.- - - - - - - - - - ranking = 2.9389784183839keywords = fracture (Clic here for more details about this article) |
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