Detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis

Introduction: Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persistent scales resulting from abnormal epidermal differentiation or metabolism. Ichthyosiform dermatoses are classified into four major types, ichthyosis vulgaris, X-Linked ichthyosis, congenital recessive ichthyosis and lastly epidermolytic hypekeratosis which was previously called bullous ichthyosiform erythroderma. The identification of steroid sulfatase as the cause of X-Linked ichthyosis points to the importance of this enzyme in skin desquamation. Fluorescent in situ hybridization (FISH) analysis is a good diagnostic technique to detect a common deletion of the STS gene. Most patients with X-Linked ichthyosis have large deletions of the STS locus. Aim of the work: In this study, we aimed to detect the X-Linked type of ichthyosis, diagnosed by detection of STS gene deletions among Egyptian males. Patients and Methods: We performed this study on Egyptian males complaining of X-linked ichthyosis who were subjected to clinical examination, pedigree analysis of the family, cytogenetic studies using G-banding technique and fluorescent in situ hybridization (FISH) using locus specific probe for stereoid sulfatase (STS) gene which is located at chromosome Xp22.3. Our results showed that 11.11% of patients had nocturnal enuresis and 33.33% showed STS gene deletion by FISH study. Conclusion: The current study underlines the difficulty of diagnosis of X-Linked ichthyosis on the clinical features or pedigree analysis of the family in Egypt and the importance of cytogenetic and molecular cytogenetic studies for diagnosis. Fluorescent in situ hybridization (FISH) technique is a good, reliable, and rapid diagnostic tool to detect STS gene deletion. Since FISH will not detect partial deletion or point mutations, we recommended further molecular studies to reach the proper diagnosis of X-linked ichthyosis. Keywords: Ichthyosis- X-Linked, gene deletion, fluorescence in situ hybridizationyword Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 209-21

17P. Building ICT Success Using PBL Based Practices

Increasingly, nowadays students must learn more advanced technical skills in order to secure jobs in a competitive 21st century workforce. This is true even in the Gulf Countries, including the UAE, where less IT work opportunities are available and where competition to find a good IT job is becoming harder. Yet the curriculum that was available to teach them these cutting-edge skills was often textbook-based, uninspiring, and limited in its appeal. Therefore, it was essential to address these issues at the curriculum of developmental program of United Arab Emirates University (UAEU) before students move on to their specific discipline. Considering the earlier mentioned flaws in IT, UGRU curriculum, leadership team in spring 2005 decided to introduce critical and creative thinking and cognition based ICT literacy program along with PBL (Problem Based Learning). The basic objectives of the PBL projects are to promote (i) Research, (ii) Critical Thinking, and (iii) Application of ICT knowledge. The themes of the projects are based on geo-social, scientific or general awareness. In this paper the IT UGRU developmental program will be compared to those counterparts that exist in leading Universities such as UAE, Kingdom of Saudi Arabia, Qatar, Australia, New Zealand, Norway, UK, Canada, and USA. This paper describes the PBL based teaching strategies and their overall effectiveness. It also discusses the impact of these projects on student learning and achieving educational goals. Results are very encouraging. The outcome of this research indicates that using PBL in ICT classrooms can help students become self learners, able to search out, understand, analyze, and synthesize information in a better way. It also helps them to understand the real value of ICT in their lives

Angiogenic output in viral hepatitis, C and B, and HCV-associated hepatocellular carcinoma

Introduction: Angiogenesis is known to play a pivotal role in most of malignancy, including HCC, and in chronic inflammation.Aim: To investigate the angiogenic output in HCV and HBV infection and its implication in the development of HCV associated HCC.Materials and methods: Blood samples were collected and grouped as; HS healthy subjects control group; HCC–HCV; chronic HCV infected patient group (HCV+ve) who are positive for serum anti-HCV antibodies and HCV–RNA; anti-HCV antibody positive and HCV–RNA negative patient group (HCVve); patients with positive HBsAg and HBV-DNA group (HBV+ve); and HBsAg positive and HBV-DNA negative patient group (HBVve). Serum levels of vascular endothelial growth factor, angiopoietin-2, endostatin and angiostatin were assessed in different studied groups.Results: The level of sVEGF was insignificantly elevated in both HCV+ve and HCVve groups when compared with controls, while Ang-2, sES and sAS were significantly elevated in both groups as compared with healthy controls. The studied parameters were significantly elevated in HBV-+ve patients when compared with the control. However, HBVve patients showed significantly elevated levels in sAng-2, sES and sAS when compared with the control while the level of sVEGF was equal to that of controls. In patients with HCC, the studied parameters showed a significant elevation when compared with healthy controls and patients either with HBV or HCV infection except for sAS in the case of HCV-+ve patients and VEGF for HBV-+ve patients who were also higher but not significant.Conclusion: The increased hepatic angiogenesis in chronic HCV and HBV could provide the molecular basis for liver carcinogenesis and contribute to the increased risk of HCC in patients with cirrhosis due to HCV and/or HBV.KEYWORDS Angiogenesis; HCC; HCV; HB

Static non-reciprocity in mechanical metamaterials

Reciprocity is a fundamental principle governing various physical systems, which ensures that the transfer function between any two points in space is identical, regardless of geometrical or material asymmetries. Breaking this transmission symmetry offers enhanced control over signal transport, isolation and source protection. So far, devices that break reciprocity have been mostly considered in dynamic systems, for electromagnetic, acoustic and mechanical wave propagation associated with spatio-temporal variations. Here we show that it is possible to strongly break reciprocity in static systems, realizing mechanical metamaterials that, by combining large nonlinearities with suitable geometrical asymmetries, and possibly topological features, exhibit vastly different output displacements under excitation from different sides, as well as one-way displacement amplification. In addition to extending non-reciprocity and isolation to statics, our work sheds new light on the understanding of energy propagation in non-linear materials with asymmetric crystalline structures and topological properties, opening avenues for energy absorption, conversion and harvesting, soft robotics, prosthetics and optomechanics.Comment: 19 pages, 3 figures, Supplementary information (11 pages and 5 figures

Exploratory, Phase II Controlled Trial of Shiunko Ointment Local Application Twice a Day for 4 Weeks in Ethiopian Patients with Localized Cutaneous Leishmaniasis

The clinical efficacy and safety of Shiunko ointment (phase II clinical trial) was investigated in 40 Ethiopian patients with cutaneous leishmaniasis. Patients were randomized to receive treatment with Shiunko ointment or placebo (n=20, each), applied on the lesion twice a day for 4 weeks. Clinicoparasitological assessments were performed before treatment, weekly for 4 weeks, and then 4, 8, and 12 weeks after the end of treatment. A marked reduction in lesion size was observed on week 16 of treatment in the Shiunko compared with placebo group (69% and 22% reduction, resp.). The overall rate of lesion reduction during the four weeks of treatment was significantly faster in the Shiunko group. Shiunko provided significant effect on wound closure in patients with ulcerated lesion. The clinical efficacy and tolerability of Shiunko were comparable to placebo with regard to its clinicoparasitological response (cure rate and parasitological clearance). Results of this preliminary study may suggest that Shiunko could be useful as adjuvant or as complementary treatment, not as alternatives to current treatment. Its attractive action includes fast lesion healing with a significantly smaller lesion at week 16 of treatment compared with placebo. In addition, its action was promoted in ulcerative lesions

Nanoinformatics: developing new computing applications for nanomedicine

Nanoinformatics has recently emerged to address the need of computing applications at the nano level. In this regard, the authors have participated in various initiatives to identify its concepts, foundations and challenges. While nanomaterials open up the possibility for developing new devices in many industrial and scientific areas, they also offer breakthrough perspectives for the prevention, diagnosis and treatment of diseases. In this paper, we analyze the different aspects of nanoinformatics and suggest five research topics to help catalyze new research and development in the area, particularly focused on nanomedicine. We also encompass the use of informatics to further the biological and clinical applications of basic research in nanoscience and nanotechnology, and the related concept of an extended ?nanotype? to coalesce information related to nanoparticles. We suggest how nanoinformatics could accelerate developments in nanomedicine, similarly to what happened with the Human Genome and other -omics projects, on issues like exchanging modeling and simulation methods and tools, linking toxicity information to clinical and personal databases or developing new approaches for scientific ontologies, among many others

Exploring the Dynamics and Mutational Landscape of Riboregulation with a Minimal Synthetic Circuit in Living Cells

[EN] The regulation of gene expression, triggered by conformational changes in RNA molecules, is widely observed in cellular systems. Here, we examine this mode of control by means of a model-based design and construction of a fully synthetic riboregulatory device. We present a theoretical framework that rests on a simple energy model to predict the dynamic response of such a system. Following an equilibrium description, our framework integrates thermodynamic properties-anticipated with an RNA physicochemical model-with a detailed description of the intermolecular interaction. The theoretical calculations are confirmed with an experimental characterization of the action of the riboregulatory device within living cells. This illustrates, more broadly, the predictability of genetic robustness on synthetic systems, and the faculty to engineer gene expression programs from a minimal set of first principles.This work was supported by the AXA Research Fund and the CSIC Intramural grant No. 201440I017 to G.R., the Spanish Ministry of Education, Culture and Sports FPU fellowship AP2012-3751 to E.M., the Spanish Ministry of Economy and Competitiveness grants No. AGL2013-49919-EXP and No. BIO2011-26741 to J.-A.D. and No. BFU2011-24691 to J.F.P., and the European Union grant No. FP7-KBBE-613745 (Programming synthetic networks for bio-based production of value chemicals) to A.J.Rodrigo Tarrega, G.; Majer, E.; Prakash, S.; Daros Arnau, JA.; Jaramillo, A.; Poyatos, JF. (2015). Exploring the Dynamics and Mutational Landscape of Riboregulation with a Minimal Synthetic Circuit in Living Cells. Biophysical Journal. 109(5):1070-1076. https://doi.org/10.1016/j.bpj.2015.07.021S10701076109

Effects of tricalcium silicate cements on osteogenic differentiation of human bone marrow-derived mesenchymal stem cells in vitro

Tricalcium silicate cements have been successfully employed in the biomedical field as bioactive bone and dentin substitutes, with widely acclaimed osteoactive properties. This research analyzed the effects of different tricalcium silicate cement formulations on the temporal osteoactivity profile of human bone marrow-derived mesenchymal stem cells (hMW-MSCs). These cells were exposed to four commercially available tricalcium silicate cement formulations in osteogenic differentiation medium. After 1, 3, 7 and 10 days, quantitative real-time polymerase chain reaction and Western blotting were performed to detect expression of the target osteogenic markers ALP, RUNX2, OSX, OPN, MSX2 and OCN. After 3, 7, 14 and 21 days, alkaline phosphatase assay was performed to detect changes in intracellular enzyme level. An Alizarin Red S assay was performed after 28 days to detect extracellular matrix mineralization. In the presence of tricalcium silicate cements, target osteogenic markers were downregulated at the mRNA and protein levels at all time points. Intracellular alkaline phosphatase enzyme levels and extracellular mineralization of the experimental groups were not significantly different from the untreated control. Quantitative polymerase chain reaction results showed increases in downregulation of RUNX2, OSX, MSX2 and OCN with increasing time of exposure to the tricalcium silicate cements, while ALP showed peak downregulation at day 7. For Western blotting, OSX, OPN, MSX2 and OCN showed increased downregulation with increased exposure time to the tested cements. Alkaline phosphatase enzyme levels generally declined after day 7. Based on these results, it is concluded that tricalcium silicate cements do not induce osteogenic differentiation of hBM-MSCs in vitro