Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load.

OBJECTIVE: To determine the frequency and character of arthropathy in hereditary hemochromatosis (HH) and to investigate the relationship between this arthropathy, nodal interphalangeal osteoarthritis, and iron load. METHODS: Participants were recruited from the community by newspaper advertisement and assigned to diagnostic confidence categories for HH (definite/probable or possible/unlikely). Arthropathy was determined by use of a predetermined clinical protocol, radiographs of the hands of all participants, and radiographs of other joints in which clinical criteria were met. RESULTS: An arthropathy considered typical for HH, involving metacarpophalangeal joints 2-5 and bilateral specified large joints, was observed in 10 of 41 patients with definite or probable HH (24%), all of whom were homozygous for the C282Y mutation in the HFE gene, while only 2 of 62 patients with possible/unlikely HH had such an arthropathy (P=0.0024). Arthropathy in definite/probable HH was more common with increasing age and was associated with ferritin concentrations>1,000 µg/liter at the time of diagnosis (odds ratio 14.0 [95% confidence interval 1.30-150.89], P=0.03). A trend toward more episodes requiring phlebotomy was also observed among those with arthropathy, but this was not statistically significant (odds ratio 1.03 [95% confidence interval 0.99-1.06], P=0.097). There was no significant association between arthropathy in definite/probable HH and a history of intensive physical labor (P=0.12). CONCLUSION: An arthropathy consistent with that commonly attributed to HH was found to occur in 24% of patients with definite/probable HH. The association observed between this arthropathy, homozygosity for C282Y, and serum ferritin concentrations at the time of diagnosis suggests that iron load is likely to be a major determinant of arthropathy in HH and to be more important than occupational factors.

Confirmation of two major polyarticular osteoarthritis (POA) phenotypes--differentiation on the basis of joint topography.

OBJECTIVES: Previous studies of patients with primary hand and ankle osteoarthritis (OA) have suggested the presence of two major polyarticular OA (POA) phenotypes, designated Type 1 and Type 2. The former, characterised by sentinel distal interphalangeal (IP) (DIP) or proximal IP (PIP) joint OA resembles generalised OA (GOA), whereas the latter characterised by sentinel metacarpophalangeal (MCP)2,3 OA, resembles the arthropathy associated with hereditary haemochromatosis (HH). The aim of this study was to validate these putative phenotypes and to further investigate their clinical and genetic characteristics. METHODS: Newly referred patients had X-rays if pre-determined clinical criteria for OA in hand and other joints were met. Subjects were assigned to the putative Type 1 POA (T1POA) or Type 2 POA (T2POA) phenotypes if radiological criteria were satisfied. Human haemochromatosis (HFE) gene mutations were determined in buffy-coat DNA by polymerase chain reaction amplification, followed by restriction enzyme cleavage and analysis on a 3% agarose gel. The significance of differences was determined by Chi-square test or by Fisher's exact test. RESULTS: Sixty-seven patients fulfilled criteria for inclusion in this study; 39 (6M, 33F) for T1POA and 28 (18M, 10F) for T2POA. A statistically significant difference in gender was observed (64% male in the T2POA subset, P<0.0001). Heberden's nodes (HNs) were found in 34 of the 39 Type 1 subjects, but in only nine of the 28 Type 2 subjects (P<0.0001). HFE gene mutations were found in nine of the 39 Type 1 subjects (23%), whereas 21 of the 28 Type 2 subjects had a single HFE gene mutation (75%, P<0.0001). CONCLUSIONS: These findings confirm the hitherto hypothetical proposition of a T1POA phenotype conforming to nodal GOA (NGOA) and a T2POA phenotype closely resembling the arthropathy described in haemochromatosis (HH).

Diagnostic accuracy of shoulder ultrasound performed by a single operator.

Both diagnostic ultrasound and magnetic resonance imaging (MRI) are used for investigation of the presence and severity of rotator cuff lesions. There is no consensus as to which is the more accurate and cost-effective study. We sought to examine the sensitivity of ultrasound, when used by one experienced radiologist with modern equipment. We compared the ultrasound and surgical results obtained from 68 patients. Ultrasound showed a sensitivity of 89% and specificity of 100% (Positive Predictive Value 100%) for full-thickness tears, and a sensitivity of 79% and specificity of 94% (Positive Predictive Value 87%) for partial-thickness tears. We found that shoulder ultrasound, in the hands of an experienced radiologist with the use of modern high-resolution equipment, is highly sensitive in differentiating complete tears and partial-thickness tears. Our results are similar to the best published results for MRI and given that ultrasound is significantly cheaper and more available, ultrasound by an experienced radiologist should be considered as a primary diagnostic tool for imaging the rotator cuff.

Critical differences in lateral X-rays with and without a diagnosis of plantar fasciitis.

Plantar fasciitis is a clinical diagnosis and is often combined with some form of imaging to validate the diagnosis. The clinical utility of lateral X-rays lies in the fact that they are relatively inexpensive and may contribute to ruling out other osseous causes of pain. In this study 106 (27 plantar fasciitis (PF) and 79 controls) plain non-weight bearing lateral X-rays were examined by a blind examiner to document the key features of the lateral X-ray between images of individuals with and without plantar fasciitis. As expected calcaneal spurs were observed in both groups (85% PF and 46% controls). However, plantar fascia thickness and fat pad abnormalities resulted in the best group differentiation (p<0.0001) with sensitivity of 85% and specificity of 95% for plantar fasciitis. It was concluded that the key radiological features that differentiate the groups were not spurs but rather changes in the soft tissues. If it is deemed necessary to confirm the diagnosis of typical plantar fasciitis with imaging, a lateral non-weight bearing X-ray should be the first choice investigation especially if these key features are noted.

Recurrent synovial chondromatosis of the knee after radical synovectomy and arthrodesis.

We describe a case of highly refractory synovial chondromatosis, which recurred despite four arthroscopic synovectomies, a chemical synovectomy, two open synovectomies and an arthrodesis. A review of the literature revealed one similar case. Both presented with marked joint stiffness suggesting a poor prognosis. Although arthrodesis may relieve short-term symptoms it does not prevent further recurrence of disease.

Severe toxic osteoblastoma of the humerus associated with diffuse periostitis of multiple bones.

Toxic osteoblastoma is a rare variant of an uncommon primary bone tumour that has been described only once before in the world medical literature. It is characterised by systemic features including fever, weight loss and a striking diffuse periostitis in association with an osteoblastoma, resulting in delayed diagnosis. Early recognition of this condition could prevent inappropriate therapies and reduce morbidity.

Intramuscular fluid collections and their association with longitudinal rotator cuff tears.

This study draws attention to the association between intramuscular fluid collections occurring at the myo-tendinous junction of the rotator cuff secondary to longitudinal tears of their tendons.

Power Doppler sonography in tenosynovitis: significance of the peritendinous hypoechoic rim.

The aim of this study was to evaluate the ability of power Doppler sonography to distinguish between hypoechoic fluid and synovium in patients with suspected tenosynovitis. Gray scale sonography and power Doppler sonography were performed on 26 tendons in 24 patients with tenosynovitis and 30 tendons in five asymptomatic volunteers. Peritendinous blood flow was graded on a scale of 0 to 3 and the percentage of the hypoechoic rim that contained blood flow was also noted. In the symptomatic group, flow was demonstrated in more than 50% of the peritendinous hypoechoic rim in 17 of 26 tendons. A positive correlation was found between the power Doppler sonographic grade and the percentage of the rim that had flow. These results suggest that a significant proportion of the hypoechoic rim probably represents vascularized synovium rather than complex fluid.

Ultrasound-guided injection of ganglia with coricosteroids.

OBJECTIVE: The aim of this study was to demonstrate the use of ultrasound guidance in confirming intralesional injection of corticosteroids and local anesthetic into symptomatic ganglia, and to propose potential advantages of this technique. DESIGN AND PATIENTS: Ten patients (five men, five women) underwent ultrasound-guided injection of a ganglion. Seven ganglia were near the wrist, one was adjacent to a finger interphalangeal joint and two were adjacent to the talus. All were injected with a 1:1 mixture of long-acting corticosteroid and local anesthetic, the actual volume being dependent on the size of the ganglion. Three patients had a second injection 9-18 months following the initial injection. RESULTS: In four patients the ganglia resolved completely. In five patients there was significant improvement, with a reduction in size of the ganglion and symptomatic relief. CONCLUSION: Ultrasound-guided injection insures intralesional deposition of corticosteroids and may provide an alternative to surgery in the management of ganglia.

Power Doppler sonography in the assessment of musculoskeletal fluid collections.

OBJECTIVE: Power Doppler sonography is a relatively new technique that has been shown to depict hyperemia associated with musculoskeletal inflammatory disease. We performed this study to evaluate the ability of power Doppler sonography to differentiate musculoskeletal fluid collections of varying etiologies. SUBJECTS AND METHODS: Gray-scale and power Doppler sonography were performed on 39 patients with joint effusions or appendicular fluid collections. Blood flow (hyperemia) in the soft tissues adjacent to the fluid collections was subjectively analyzed and graded on a scale of 1 to 4 (1, normal flow; 2-4, increasing degrees of hyperemia). All fluid collections were aspirated within 24 hr of the sonographic examination. We found 31 joint effusions and 12 periarticular collections with appropriate imaging and pathologic correlation. RESULTS: Adjacent to 36 effusions and fluid collections, we saw moderate or marked hyperemia. Thirty-five of the 36 had an inflammatory or neoplastic cause, including 15 infected collections. One fluid collection had a degenerative etiology (subdeltoid bursitis secondary to supraspinatus tendon tear). Adjacent to the seven remaining effusions and fluid collections, we saw normal or mildly increased hyperemia; none of these collections had an inflammatory etiology. CONCLUSION: Power Doppler sonography helps distinguish inflammatory and infectious musculoskeletal fluid collections from those that are noninflammatory, and it may help guide the decision to perform diagnostic aspiration. Power Doppler sonography does not reliably differentiate between inflammatory collections of infectious and noninfectious origin because collections of either origin may significantly increase adjacent soft-tissue perfusion.

Intracranial plasma cell granuloma.

We present a case of plasma cell granuloma involving the dura mater with infiltration of the adjacent brain parenchyma. The radiological and pathological features of this entity are described.

Bizarre parosteal osteochondromatous proliferation of the hands and feet.

Two adults with bizarre parosteal osteochondromatous proliferation of the hands and feet are presented. The preoperative diagnosis may be difficult to make and the correct diagnosis was not made in either case until pathological examination of recurrent tumour masses occurred. The radiological and pathological features of this lesion are discussed. The diagnostic features which differentiate this condition from other causes of new bone formation in the peripheries are described.

Retroperitoneal lymphangioma.

Five cases of retroperitoneal lymphangioma are presented. In three patients the lesions were symptomatic, with resolution of the symptoms following resection. In two elderly patients the lesions were asymptomatic. Ultrasound demonstrated masses that ranged from 4 to 15 cm in maximal extent, and which were predominantly anechoic. Two contained septations and two echogenic debris. Computed tomography demonstrated the masses to be of water density, and allowed better delineation of the lesions to adjacent structures within the anterior pararenal space. Fine needle aspiration (FNA) produces a characteristic cytology of abundant lymphocytes, which may be intermingled with macrophages. It is considered that retroperitoneal lymphangioma has characteristic imaging features that allows a presumptive diagnosis, which can be confirmed by FNA.

Segmental trends in cancellous bone structure in the thoracolumbar spine: histological and radiological comparisons.

Segmental variations in vertebral body cancellous bone architecture throughout the thoracolumbar spine were examined using histomorphometry and microradiography, and compared to bone mass measured using dual energy X-ray absorptiometry. In six human vertebral columns (T1 to L5) bone mineral content (BMC) and bone mineral density (BMD) of each vertebral body was determined in the lateral projection. Sagittal plane cancellous bone architecture was assessed from two-dimensional surface stained images and microradiographs of two 1 mm thick sections at each vertebral level. Computer-assisted image analysis was used to measure the total bone area (TBA), mean trabecular width (MTW) and trabecular number (TbN) from the stained images, and the skeletonized network length (SNL) from the radiographic images. Consistent segmental trends were observed for all structural parameters across the six columns examined. Higher TBA and TbN values were observed in the upper thoracic segments and decreased caudally. The MTW was relatively constant in the thoracic vertebrae before increasing in the lumbar spine. Pooled correlations between TBA and the bone density measurements were poor (BMC: r = 0.17, BMD: r = 0.25), while the TBA and SNL were only moderately correlated (r = 0.42). In conclusion, histomorphometric and radiological measurements appear to provide different information about cancellous bone structure. Bone structure is poorly correlated to integral measurements of bone mass. The consistent segmental variations in bone architecture appear to reflect a skeletal response to the relative extent of habitually applied loads in different regions of the spine.

Hepatic angiomyolipoma.

The imaging and pathological appearances of a hepatic angiomyolipoma are presented. On ultrasound (US), the mass was well-defined and echogenic. On computed tomography (CT), the lesion appeared of soft tissue density with peripheral foci of lower density. The case illustrates the difficulty of detecting the fatty content of a tumor by CT when the fatty content represents only a small portion of the lesion. Fine-needle aspiration (FNA) cytology and needle biopsy did not yield diagnostic material, and the tumor was resected.

Computer-assisted curvature assessment and Cobb angle determination of the thoracic kyphosis. An in vivo and in vitro comparison.

STUDY DESIGN: A retrospective survey of thoracic spinal curvature compared postmortem radiographs with recent clinical films in 22 cases. OBJECTIVES: This study was performed to determine whether spinal curvature measured from postmortem radiographs is a valid measure of curvature in vivo. SUMMARY OF BACKGROUND DATA: Little quantitative data have been cited on whether sagittal plane thoracic spinal curve characteristics change after death. METHODS: Thoracic kyphosis was measured using the Cobb method and the mean radius of curvature from computer-assisted digitizing of the vertebral contour. Thoracic segments visualized on the chest films were referenced to the postmortem radiograph. RESULTS AND CONCLUSIONS: The in vivo and in vitro measurements strongly correlated (Cobb angle r = 0.95, curvature r = 0.78). Trends decreased slightly in Cobb angle (1.3%, -2.6%) and increased slightly in curvature (10.7 mm, 4.1%). Differences were not significant, however, supporting the use of spinal curvature analysis with postmortem radiographs.

Cerebral and brain stem Langerhans cell histiocytosis.

Two patients with central nervous system manifestations of Langerhans cell histiocytosis, both with brain stem involvement, are reported. The onset of symptoms was at an age when the diagnosis might not have been considered.