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This systematic review examines case reports on azygous vein trauma, focusing on the diagnostic techniques utilized, the frequency of surgical intervention, and the mortality rates associated with these cases.

Background: To date, 22 different genes have been associated to autosomal dominant retinitis pigmentosa (ADRP), but they account for only 50% of cases worldwide. Methods: We analyzed by DHPLC and sequencing the major ADRP genes, namely, rhodopsin (RHO), peripherin 2 (PRPH2), retinitis pigmentosa 1 (RP1) and con-rod homeobox containing gene (CRX), in 130 Italian families affected by ADRP. To expand our data, we analyzed by DNA sequence capture and next-generation sequencing 260 genes associated to inherited eye diseases in three ADRP patients without mutations in RHO, RP1, RDS and CRX. Results: In 17 of the studied ADRP families (13%), we identified eleven different potentially pathogenic mutations. In our ADRP patients, the relative involvement of RHO (

In celiac disease (CD), gluten, the disease-inducing toxic component in wheat, induces the secretion of IgA-class autoantibodies which target tissue transglutaminase (tTG). These autoantibodies are produced in the small-intestinal mucosa, and, during gluten consumption, they can also be detected in patients' serum but disappear slowly from the circulation on a gluten-free diet. Interestingly, after adoption of a gluten-free diet the serum autoantibodies disappear from the circulation more rapidly than the small-intestinal mucosal autoantibody deposits. The finding of IgA deposits on extracellular tTG in the liver, kidney, lymph nodes and muscles of patients with CD indicates that tTG is accessible to the gut-derived autoantibodies. Although the specific autoantibody response directed against tTG is very characteristic in celiac patients, their role in the immunopathology of the celiac mucosal lesion is a matter of debate. Here we report a brief summary of anti-tTG antibody effects demonstrating that these antibodies are functional and not mere bystanders in the disease pathogenesis. In fact, they inhibit intestinal epithelial cell differentiation, induce intestinal epithelial cell proliferation, increase epithelial permeability and activate monocytes and disturb angiogenesis.

Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiovascular disease worldwide and is an important cause of heart failure-related disability in young people. To date, more than 20 different genes have been identified and the number is increasing. We evaluted a novel approach to identify causative mutations in a large number of HCM-related and candidate genes. Four HCM patients previously analysed by DHPLC/Sanger sequencing for causative mutations in 8 sarcomeric genes were enrolled in this study. Overall, 234 genes were selected for array on the chip, and a custom sequence capture array was designed for target enrichment of all coding regions. The size of our target was 3,908,196 bp. Each DNA sample was enriched using one custom array, and then sequenced in two runs by the GS FLX System. We obtained an average of 164 Mb/sample, which is equivalent to 503,775 sequencing reads/sample with an average read length of 325.6 bp. Sequence and data analysis were performed using the Roche/454 gsMapper software. High confidence variants were blasted against the SNP database to distinguish between known and unknown variants. We found 7864 different variants, of which 6725 were intronic, 424 intergenic and 715 exonic. About 31% of these variants were novel and 56 novel variants were in 35 HCM related genes. In all patients, we confirmed the mutations and polymorphisms previously identified in them with the DHPLC/Sanger approach. The simultaneous analysis of a vocabulary of genes so to increase sensitivity for the molecular diagnosis may in turn increase the information for those patients in whom traditional screening was not adequate. With this new technology it may be possible to identify mutations in genes that, also acting as phenotype modifiers, could be responsible for clinical variability thereby explaining the pathogenetic mechanism underlying HCM development. Consequently, by reducing time and costs and increasing the sensitivity of molecular testing, routine HCM molecular diagnostics could be implemented also to obtain a model readily applicable to other genetic diseases.

Background: Gliadins, a family of wheat proteins, are central to the pathogenesis of celiac disease (CD). In addition to 'immunogenic' effects, gliadin directly affects cultured cells and intestine preparations, and produces damage in vivo, via a separate 'toxic' peptide, such as A-gliadin p31-43 (P31-43). Aims: Understanding the molecular mechanisms underlying direct non T-cell mediated effects of gliadin peptides, and assessing their potential role in promoting CD. Method: Gliadin effects were tested on a number of cell lines and on cultured mucosa samples by evaluating cytoskeleton rearrangements, endocytosis, proliferation and apoptosis. Standard biochemical methods were used to assess prolonged epidermal growth factor receptor (EGFR) activation. Results: Crude gliadin peptic-tryptic peptides [PTG], or P31-43 alone, fully reproduce the effects of epidermal growth factor [EGF] on actin cytosketon, cell cycle and cell proliferation of various cell lines. Inhibitor studies demonstrate the role of EGFR in the early response to gliadin exposure, pointing to activation of the EGFR pathway. Peptide P31-43 is not similar to any EGFR ligand, but can delay inactivation of the EGFR interfering with its endocytosis. Gliadin-induced delay of EGFR endocytosis in cultured intestinal biopsies, together with S-phase entry of epithelial intestinal cells, confirm a role for EGFR activation in CD. Conclusion: The ability of gliadin peptides to delay EGFR inactivation through interference with the endocytic pathway suggests a model where gliadin fragments amplify the effects of trace amounts of EGF, and possibly of other growth factors, by prolonging receptor activation. The results, using cultures of coeliac intestinal biopsies, highlight the role of the EGF pathway in establishing and maintaining the typical atrophic and proliferative alterations of the small intestine in CD.

We present some additional results obtained with the BETAview system [1], a digital system for real time beta-imaging based on semiconductor pixel detectors and on a single photon counting read-out chip. In this paper, we describe the system assembled with a Si detector, 300-mum thick, segmented into 64 x 64 square pixels with 170-mum pitch. The solid-state pixel array detector is bump-bonded pixel by pixel to a low threshold, single particle counting electronics, the photon counting chip (PCC) developed by the Medipix1 Collaboration for biomedical applications. Each cell (corresponding to a detector pixel) of the front-end chip has a maximum count rate of 2 MHz, a minimum nominal threshold of 1400 e(-) (corresponding about 5 keV in Si), and contains a 15-bit counter. The detector sensitive area is about 1 cm(2), but several detectors could be assembled in arrays. The measured background counts were about 3.5 x 10(-2) cps/cm(2), which implies a very high sensitivity of the device. The detection threshold used in this experiment was similar to15 keV. In this paper, we show the results obtained in the real-time monitoring of two biological dynamic processes: an amino acid uptake by living cells and the thermal denaturation process of oligonucleotides. Specifically, we have followed over time the accumulation of a marked amino acid ([C-14]L-Leucine) into Octopus vulgaris eggs cells. The results, described in Section III-B, show that after about 20 min from the beginning of the uptake process, the radioactively marked eggs become clearly visible over the background culture radioactive medium. In Sections III-C and III-D, we also describe the successful performance of the beta-imaging system in genetic studies involving the real time reconstruction of denaturation and kinetics curves for two different P-32-radiolabeled nucleotides.