Communicated by Stylianos E. AntonarakisHbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by a multi-center academic effort to provide timely information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology, and ethnic occurrence, accompanied by mutation frequencies and references. In addition to the regular updates to entries, we report significant advances and updates, which can be useful not only for HbVar users but also for other LSDB development and curation in general. The query page provides more functionality but in a simpler, more user-friendly format and known single nucleotide polymorphisms in the human α-and β-globin loci are provided automatically. Populationspecific β-thalassemia mutation frequencies for 31 population groups have been added and/or modified and the previously reported δ-and α-thalassemia mutation frequency data from 10 population groups have also been incorporated. In addition, an independent flat-file database, named XPRbase (http://www.goldenhelix.org/xprbase), has been developed and linked to the main HbVar web page to provide a succinct listing of 51 experimental protocols available for globin gene mutation screening. These updates significantly augment the database profile and quality of information provided, which should increase the already high impact of the HbVar database, while its combination with the UCSC powerful genome browser and the ITHANET web portal paves the way for drawing connections of clinical importance, that is from genome to function to phenotype.
Current evidence suggests that implants in augmented sinuses have high survival rates, with smoking playing a potentially important negative role in their prognosis. Both indirect and direct maxillary sinus floor augmentation seem to have a low frequency of manageable complications.
Hepatitis C virus (HCV) infection is a global health problem that affects more than 170 million people worldwide. It is a major cause of cirrhosis and hepatocellular carcinoma, making the virus the most common cause of liver failure and transplantation. The standard-of-care treatment for chronic hepatitis C (CHC) has been changed during the last decade and direct acting antiviral drugs have already been used. Besides, understanding of the pathogenesis of CHC has evolved rapidly during the last years and now several host factors are known to affect the natural history and response to treatment. Recent genome-wide association studies have shown the important role of interleukin-28B and inosine triphosphatase in HCV infection. The present review article attempts to summarize the current knowledge on the role of host factors towards individualization of HCV treatment.
Epithelial-mesenchymal transition (EMT) plays an important role in cancer metastasis. During EMT, tumor cells acquire the capacity to migrate and invade the stroma. Activation of the transforming growth factor-b (TGF-b) signaling pathway is of major importance for the initiation of EMT. Smad4, an essential protein of this pathway, is known to complex with multiple transcription factors (e.g. Snail-1, Slug, Twist-1), in various types of cancer, promoting the repression or activation of target genes. The role of Smad4 in colorectal cancer (CRC) is not straightforward so far. In the present study forty eight resected CRC tumor specimens were immunohistochemically examined in order to assess the expression of Smad4 and its association with E-cadherin, Snail-1, Slug, Twist-1 protein expression and with various pathological parameters. Smad4 was found to be positively correlated with Snail-1, Slug and Twist-1 expression (p < 0.001). On the other hand it was negatively correlated with the expression of E-cadherin (p < 0.001). Furthermore, lymphatic invasion could be clearly associated with Smad4 expression, a finding complying with the metastatic ability of EMT cells. In conclusion, Smad4 could be considered as a central component of EMT transition in human colorectal cancer that combines with transcriptional factors to reduce E-cadherin and alter the expression of the epithelial phenotype.
Objective To determine whether an electroacupuncture (EA) technique that was developed for a surgical population under general anaesthesia reduces pain after mesh inguinal hernia open repair. Methods A total of 54 patients with right or left inguinal hernia were randomised to group I (preoperative, intraoperative, postoperative EA), group II (preoperative, postoperative EA), or a sham control group (group III; preoperative and postoperative placement of needles, but without skin penetration). The Visual Analogue Scale (VAS) (primary outcome) and the State-Trait Anxiety Spielberger Inventory were evaluated preoperatively and at 30 min, 90 min, 10 h and 24 h after surgery. Pain threshold and tolerance were evaluated using an algometer at these same time points and preoperatively before and after EA. Levels of the stress hormones cortisol, corticotrophin and prolactin were determined at 30 min, 90 min and 10 h after surgery and preoperatively before and after EA. Results The results showed significant differences between the true EA and control groups. The true EA groups (I and II) showed statistically significantly greater improvements in the primary (VAS pain, p<0.05) and secondary outcome measures (Anxiety scale; algometer measurements, p<0.05 and stress hormones, p<0.01) compared to the control group. There were no statistically significant differences between groups I and II. Conclusions Electroacupuncture reduces postoperative pain after mesh inguinal hernia repair and decreases stress hormone levels and anxiety during the postoperative period. Trial Registration Number ClinicalTrials.gov identifier NCT01722253.
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