Prospective study of histomorphometry, biochemical bone markers and bone densitometric response to pamidronate in ß-thalassaemia presenting with osteopenia-osteoporosis syndrome.

This study aimed to evaluate bone remodelling disorders in thalassaemia by using pamidronate (PD) infusion with or without hormone replacement therapy (HRT) as a diagnostic-therapeutic tool. In this prospective study, 24 adult thalassaemia major (TM) and 10 thalassaemia intermedia (TI) patients received either PD and HRT or HRT only (controls) for 3 years. Eugonadal patients with TI had PD only. Bone remodelling was assessed by dual energy X ray absorptiometry (DXA scan), type 1-collagen biochemical bone markers (BBM) and histomorphometry of iliac crest biopsy before and after PD. As a group, thalassaemics had a significant improvement in spinal and femoral bone mineral density Z scores following PD (P < 0·01) compared to the controls. Although BBM were comparable pre-therapy, they were significantly lower in the PD cohort (P < 0·001) compared to the control group. All patients had osteopenia, diminished osteoid formation and bone volume on histomorphometry pre-therapy with high turnover bone disease (HTO) in TM and low-turnover disease (LTO) in TI. In TM, bone volume improved significantly, whereas TI patients showed little or no response to PD. In conclusion, histomorphometry data suggest that TM patients have a distinct pathology of high turnover bone disease compared to TI patients, who have low-turnover disease.

Osteosarcoma associated with diamond-blackfan anaemia: a case of a child receiving growth hormone therapy.

PURPOSE: Diamond-Blackfan anaemia (DBA) is a rare pure congenital red cell aplasia, usually presenting in infancy or early childhood. The literature suggests a predisposition to haemopoietic malignancy but in addition solid tumours have been reported, with five cases of osteosarcoma described. PATIENT: A sixth case of a 12-year-old girl with DBA who developed an osteosarcoma of the distal femur is presented. RESULTS: She was treated with methotrexate followed by tumour excision and distal femoral replacement. The patient is currently alive with multiple pulmonary metastases. DISCUSSION: We discuss the association between the administration of growth hormone and future development of malignancy in patients with DBA.

Rheumatoid arthritis of the cervical spine: current techniques for management.

The incidence of rheumatoid arthritis in the European and North American population is significant. Rheumatoid arthritis can result in serious damage to the cervical spine and the central neuraxis, ranging from mild instability to myelopathy and death. Aggressive conservative care should be established early. The treating physician should not be lulled into a false sense of security by reports suggesting that cervical subluxations are typically asymptomatic [76-78]. Gradual spinal cord compression can result in severe neurologic deficits that may be irreversible despite appropriate surgical intervention when applied too late. [figure: see text] The treatment of rheumatoid disease in the cervical spine is challenging. Many details must be considered when diagnosing and attempting to institute a treatment plan, particularly surgical treatment. The pathomechanics may result in either instability or ankylosis. The superimposed deformities may be either fixed or mobile. The algorithm suggested by the authors can be used to navigate through the numerous details that must be considered to formulate a reasonable surgical plan. Although these patients are [figure: see text] frail, an "aggressive" surgical solution applied in a timely fashion yields better results than an incomplete or inappropriate surgical solution applied too late. When surgical intervention is anticipated, it should be performed before the development of severe myelopathy. Patients who progress to a Ranawat III-B status have a much higher morbidity and mortality rate associated with surgical intervention than do patients who ambulate. Although considered aggressive by some, "prophylactic" stabilization and fusion of a [figure: see text] relatively flexible, moderately deformed spine before the onset of severe neurologic symptoms may be reasonable. This approach ultimately may serve the patient better than "observation" if the patient is slowly drifting into a severe spinal deformity or shows signs of early myelopathy or paraparesis.

Histology of the craniocervical junction in chronic rheumatoid arthritis: a clinicopathologic analysis of 33 operative cases.

STUDY DESIGN: A histologic review of surgical specimens with clinical and radiographic correlations. OBJECTIVE: To analyze the histopathology at the craniocervical junction in chronic rheumatoid arthritis (RA). SUMMARY OF BACKGROUND DATA: It has been assumed that the tissue identified on radiography at the craniocervical junction causing anterior spinal cord compression in patients with chronic RA is hypertrophic rheumatoid synovium. To date, no study has positively identified the histology of this tissue. METHODS: Transoral resection of the dens and spinal cord decompression were performed in 33 myelopathic rheumatoid patients with craniocervical instability. The resected specimens were examined histologically. RESULTS: Two unique histologic patterns were identified. Type I synovium has a recognizable synovial structure but without a hyperplastic synovial layer, significant inflammatory cell population, or lymphocytic infiltration typical of early active rheumatoid synovium. Type II synovium is a bland, fibrous, hypercellular tissue that is hypovascular, with little synovium and few inflammatory cells. Clinically and radiologically the two groups are distinct. Patients with Type II synovium are older ( = 0.008) and present with more advanced neurologic involvement caused by spinal cord compression ( = 0.0001). The mean difference in the spinal cord area between the two groups was 20.6 mm (95% confidence interval, 10.0-31.2 mm; = 0.004). CONCLUSIONS: The histologic specimens suggest that ligamentous destruction is followed by replacement of the rheumatoid synovium with fibrous tissue, whereas the osseous structures reveal severe destruction secondary to mechanical instability, rather than to an acute inflammatory process. Early, preemptive surgical intervention may prevent the development of spinal cord injury caused by instability.