HLA markers in familial Lichen Sclerosus

Background: Lichen sclerosus (LS) has been identified with increased frequency in families,often associated with HLA markers, mainly DQ7. A genetic co‐etiology seems likely in this setting. Moreover, there is an association of LS with autoimmune disorders, such as the presence of anti‐thyroid peroxidase autoantibodies (anti‐TPO), a hallmark of autoimmune thyroid diseases. Patients and Methods: In 3 families affected by LS, we verified their HLA markers, and identified previously undiagnosed cases of LS and autoimmune disorders. 30 individuals were examined with history, skin biopsy, HLA class I and II typing by PCR‐SSP, and measurement of anti‐TPO, free thyroxine and thyroidstimulating hormones (TSH) levels. Results: There were 8 cases of LS, 50 % of them anti‐TPO+. Autoimmune disorders were found in 40 % (total) and in 87.5 % of those affected. Most common HLA markers were B*15, B*57, CW*03, CW*07, CW*18, DRB1*04, DRB1*07, DRB4*. The three latter have been previously associated with LS. Conclusion: New cases of LS and autoimmune disorders can be detected in first degree relatives of patients with LS. The presence of anti‐TPO antibodies strongly suggests autoimmune thyroiditis. There is intra‐familial association between the haplotype HLA‐B*15 ‐DRB1*04 ‐DRB4* and anti‐TPO,emphasizing their link with thyroiditis. New familial approaches might help to make clear the pathogenesis of LS and its association with autoimmune diseases.     

Effects of ami-25 on liver vessels and tumors on T1-weighted turbo-field-echo images: Implications for tumor characterization

This study was devoted to tumor differentiation in liver MR T1-weighted imaging with superparamagnetic iron oxide (SPIO). Twenty-one patients with 40 liver lesions were studied at 1.5 T. Before and at least 45 minutes after SPIO administration, turbo-field-echo (TFE) T1-weighted, TFE T1 × T2*-weighted (MXT), and fat-suppressed turbo-spin-echo T2-weighted images were acquired. A quantitative analysis was performed blindly. On TFE T1-weighted images, the signal enhancement was ?33% ± 12 for the liver, ?24% ± 2 for adenomas and focal nodular hyperplasia, +60% ± 33 for the hemangiomas; metastases and cyst enhancement were not significant. After SPIO on TFE T1-weighted images, the hemangioma-to-liver signal ratio (149% ± 18) was definitely higher than the mean metastasis-to-liver signal ratio (90% ± 16). This T1-related differentiation ability lacked dramatically on TFE MXT images and, in one case, was reduced on post-SPIO TFE T1-weighted images by a long imaging delay after SPIO administration (2 hours).     

Gastro-oesophageal reflux disease: Medical or surgical treatment? Report of an interactive workshop

Gastroesophageal reflux disease (GERD) is the most common disease of the upper gastrointestinal tract. With the introduction of proton pump inhibitors medical treatment of GERD has been significantly improved. However, the development of laparoscopic antireflux surgery resulted in an increasing interest of surgeons in this disease. An interactive meeting was organized in order to develop an agreement between gastoenterologists and surgeons regarding therapeutic decisions and this is the main topic of this paper.     

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.