A comparative study between conventional and liquid-based cytology in screening for anal intraepithelial lesions in HIV-positive patients.

Anal intraepithelial neoplasia (AIN) is associated with HPV infection and can be detected by cytological screening. While conventional exfoliative cytology (CC) is a low-cost and nonaggressive method, liquid-based cytology (LBC) tends to give clearer readings. Although studies of the efficacy of anal cancer screening methods would be of great importance for groups at high risk for AIN, few such studies have been conducted. The aim of the present study was to assess the concordance of CC and LBC in diagnosing anal pre-neoplastic lesions, and to compare cytological results with anoscopy, histopathological, and molecular biology findings. Comparative study involving 33 HIV-positive patients, who underwent anoscopy and biopsy of suspected lesions. Concordance between the two cytology methods was calculated, as were the associations between cytology results and findings from other screening methods. A total of 54.5% of cases were considered AIN-negative by CC and LBC, and concordance between the two methods was statistically significant (P < 0.05). Anoscopy was negative in 15 of the 18 CC- and LBC-negative cases. CC identified 75% of patients with positive biopsy, while LBC identified 85.71% of these patients. Molecular biology results showed that patients with LSIL tested positive for the highest number of HPV subtypes. The associations between positive biopsy and high grade HPV, HPV 16, and multiple HPV infections were not statistically significant. Conventional and liquid-based cytology are equally effective in screening for anal preneoplastic lesions.

Selenoprotein-related disease in a young girl caused by nonsense mutations in the SBP2 gene.

CONTEXT: Selenoproteins are essential for life, and their biosynthesis requires the incorporation of the rare amino acid selenocysteine (Sec) in a process mediated by the Sec insertion sequence-binding protein 2 (SBP2). Although SBP2 is considered a rate-limiting factor mediating Sec incorporation, there has been little evidence so far linking SBP2 dysfunction to widespread selenoprotein-related disease. OBJECTIVE: The objective of the study was to report the discovery of novel truncation mutations in the SBP2 gene (R120X/R770X) in a female adolescent and the clinical consequences of the combined deficiency of selenoproteins. SUBJECTS AND METHODS: A 12-yr-old girl who presented with a syndrome of abnormal thyroid hormone metabolism, delayed bone maturation, congenital myopathy, and impaired mental and motor coordination development and her family were studied. The coding region of the SBP2 gene was analyzed by sequencing, and gel shift assays were performed to address the in vitro binding properties of the mutant SBP2 protein. RESULTS: Serum levels of selenium and glutathione peroxidase in the proband were reduced, and selenoprotein P levels were undetectable. DNA sequencing of the SBP2 gene revealed a compound heterozygous mutation (R120X/R770X). The R120X mutation disrupted all functional motifs and the R770X inhibited the binding of SBP2 to Sec insertion sequence elements. Interestingly, selenium supplementation normalized serum selenium and glutathione peroxidase but not selenoprotein P levels and did not restore thyroid hormone metabolism dysfunction. CONCLUSIONS: This distinctive phenotype can only be explained by the combined deficiency of functionally important selenoproteins and pinpoints the clinical relevance of selenoproteins and selenium economy in human development.

Hepatitis C is less aggressive in hemodialysis patients than in nonuremic patients.

BACKGROUND AND OBJECTIVES: The severity of liver disease among hepatitis C patients on hemodialysis is controversial. The aim of this study was to compare the clinical, biochemical, and liver histologic characteristics of hepatitis C virus (HCV) in hemodialysis patients and in those with normal renal function. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A case-control study was carried out with 36 HCV patients on hemodialysis and 37 HCV patients with normal renal function matched for gender, age at infection, and estimated time of infection. RESULTS: HCV patients on hemodialysis had lower levels of alanine aminotransferase and lower viral load. Hepatic fibrosis was significantly higher in the patients with normal renal function (73%) than in hemodialysis patients (47.2%, P < 0.025); the same was observed for inflammatory activity (control group 59.5% versus hemodialysis patients 27.7%, P = 0.003). In addition, the risk of tissue inflammation was four times lower in hemodialysis patients (odds ratio = 0.23, P < 0.004), and severe inflammatory activity on biopsy was the only independent risk factor for fibrosis (P < 0.001). CONCLUSIONS: The lower biochemical and inflammatory activities observed in hemodialysis patients suggest that hemodialysis and uremia may have a protective role against progression of the disease caused by HCV.