The association of the PTPN22 620W polymorphism with Behcet's disease

Objectives

A single nucleotide polymorphism (SNP) of the gene encoding protein tyrosine phosphatase type 22 (PTPN22 620W) has recently been described as a strong common genetic risk factor for human autoimmune disease. We have analysed the association of PTPN22 620W in patients with Behçet''s disease (BD).

Methods

Genomic DNA was obtained from 270 patients with BD from the UK and the Middle East. Normal controls (n  =  203) were collected from the same populations. Patients with idiopathic retinal vasculitis from the UK (n  =  136) were used as disease controls. PTPN22 620W was detected by SSP–PCR analysis and agarose gel electrophoresis.

Results

The results showed an inverse correlation between the presence of PTPN22 620W and Behçet''s disease in either patient group tested. There was a greatly reduced prevalence in Middle Eastern compared to UK patients and controls. Finally, there was no association with either UK patients with retinal vasculitis compared with UK controls.

Conclusions

The presence of PTPN22 620W was inversely associated with BD and the distribution of the SNP in the Middle East supports previous findings in the global prevalence.     

A decade of spore-forming bacterial infections among European injecting drug users: pronounced regional variation

The recent anthrax outbreak among injecting drug users (IDUs) in Europe has highlighted an ongoing problem with severe illness resulting from spore-forming bacteria in IDUs. We collated the numbers of cases of 4 bacterial illnesses (botulism, tetanus, Clostridium novyi, and anthrax) in European IDUs for 2000 to 2009 and calculated population rates. Six countries reported 367 cases; rates varied from 0.03 to 7.54 per million people. Most cases (92%) were reported from 3 neighboring countries: Ireland, Norway, and the United Kingdom. This geographic variation needs investigation.     

Management of skin,mucosa and joint involvement of Behçet’s syndrome: A systematic review for update of the EULAR recommendations for the management of Behçet’s syndrome

Objectives

The aim of this systematic review was to inform the update of European League Against Rheumatism (EULAR) Recommendations for the management of Behçet’s syndrome (BS), on the evidence for the treatment of skin, mucosa and joint involvement of BS.

Cardiac hypertrophy, hypertrophic cardiomyopathy, and hyperparathyroidism--an association

Left ventricular hypertrophy (symmetric, asymmetric, or hypertrophic cardiomyopathy) is an almost invariable accompaniment of primary hyperparathyroidism. Five of 18 patients with hypertrophic cardiomyopathy had raised serum concentrations of parathyroid hormone with normal serum calcium concentrations. Left ventricular hypertrophy did not occur in any of the six patients with hypercalcaemia alone. These relations suggest that parathyroid hormone rather than a rise in the extracellular calcium concentration is associated with a spectrum of left ventricular hypertrophy. All patients with increased circulating parathyroid hormone concentrations should have echocardiographic examination of the left ventricle. Conversely, parathyroid hormone concentrations should be measured in all patients with left ventricular hypertrophy from an unknown cause, especially those with hypertrophic cardiomyopathy.     

Late partial failure of a free ALT flap

Late failure of microsurgical flaps is a rare event and it has been reported as a consequence of compression of the vascular pedicle or late infection. We report a case of late partial failure occurring 3 weeks post-operatively which was shown by vascular imaging to be caused by a previously unidentified complete occlusion of the right external iliac artery. After successful vascular bypass surgery, the suffering flap developed granulation tissue and was skin grafted. In patients carrying multiple risk factors for peripheral vascular disease, the risk of proximal vessel occlusion as a cause of flap failure, should be kept in mind.     

Focal liver masses: differential diagnosis with pulsed Doppler US

Duplex Doppler ultrasound (US) was used in 68 consecutive patients with focal liver lesions, including 12 hepatocellular carcinomas, one cholangiocarcinoma, 37 metastases, 15 hemangiomas, one hemangioendothelioma, and two focal nodular hyperplasias. Of the hepatocellular carcinomas, six were diffusely hyperechoic, two were hypoechoic, two were single hyperechoic lesions, and two were multifocal and hyperechoic. All ten tumors with Doppler shifts of 5 kHz or above proved to be hepatocellular carcinomas. The other two hepatocellular carcinomas showed Doppler shifts of 3 kHz. In contrast, no hemangioma showed shifts above 0.7 kHz, and ten of the 15 gave no detectable signal. Of the metastases, 20 gave no signal and 17 had signals of up to 4 kHz. Three-kilohertz signals were also obtained from a cholangiocarcinoma, a hemangioendothelioma, and focal nodular hyperplasia. Correlation with angiographic findings suggested that the high-velocity Doppler signals were associated with large pressure gradients due to arteriovenous shunting. Duplex Doppler US can therefore aid in the differential diagnosis of diffuse and focal liver lesions.     

Primary leiomyoma of the liver

Summary The fourth known case of primary leiomyoma of the liver is described. This diagnosis depends on the exclusion of leiomyoma at other intraabdominal sites and careful histologic review to exclude malignant change. In the presented case, multiple noninvasive imaging modalities failed to allow a tissue specific diagnosis, although magnetic resonance imaging of the liver did add useful information. For this problem, hepatic lobectomy is both diagnostic and curative.