Introduction to Medical Genetics

Medical genetics is the key to modern biochemistry and underlying mechanisms of many diseases

STAT3 Genotypic Variant rs744166 and Increased Tyrosine Phosphorylation of STAT3 in IL-23 Responsive Innate Lymphoid Cells during Pathogenesis of Crohn\u27s Disease

Crohn\u27s disease (CD) results from dysregulated immune responses to gut microbiota in genetically susceptible individuals, affecting multiple areas of the gastrointestinal tract. Innate lymphoid cells (ILCs) are tissue-resident innate effector lymphocytes which play crucial roles in mucosal immune defense, tissue repair, and maintenance of homeostasis. The accumulation of IFN-γ-producing ILC1s and increased level of proinflammatory cytokines produced by ILCs has been observed in the inflamed terminal ileum of CD patients. To date, the precise mechanisms of ILC plasticity and gene regulatory pathways in ILCs remain unclear. Signal transducer and activator of transcription 3 (STAT3) regulates gene expression in a cell-specific, cytokine-dependent manner, involving multiple immune responses. This study proposes the positive correlation between the prevalence of STAT3 rs744166 risky allele A with the severity of disease in a cohort of 94 CD patients. In addition, the results suggest an increased STAT3 activity in the inflamed ileum of CD patients, compared to unaffected ileum sections. Notably, IL-23 triggers the differentiation of CD117+NKp44- ILC3s and induces the activation of STAT3 in both CD117+NKp44- and CD117-NKp44- ILC subsets, implying the involvement of STAT3 in the initiation of ILC plasticity. Moreover, carriage of STAT3 A risk allele exhibited a higher basal level of STAT3 tyrosine phosphorylation, and an increased IL-23 triggered the pSTAT3 level. We also demonstrated that there was no delayed dephosphorylation of STAT3 in ILCs of both A/A and G/G donors. Overall, the results of this study suggest that IL-23-induced activation of STAT3 in the CD117-NKp44- ILC1s involves in ILC1-to-ILC3 plasticity and a potential regulatory role of ILC1 function. Those genetically susceptible individuals carried STAT3 rs744166 risky allele appear to have higher basal and cytokine-stimulated activation of STAT3 signal, leading to prolonged inflammation and chronic relapse

With No Deliberate Speed: The Segregation of Roma Children in Europe

In this study, by taking the advantage of both inorganic ZnO nanoparticles and the organic material chitosan as a composite seed layer, we have fabricated well-aligned ZnO nanorods on a gold-coated glass substrate using the hydrothermal growth method. The ZnO nanoparticles were characterized by the Raman spectroscopic techniques, which showed the nanocrystalline phase of the ZnO nanoparticles. Different composites of ZnO nanoparticles and chitosan were prepared and used as a seed layer for the fabrication of well-aligned ZnO nanorods. Field emission scanning electron microscopy, energy dispersive X-ray, high-resolution transmission electron microscopy, X-ray diffraction, and infrared reflection absorption spectroscopic techniques were utilized for the structural characterization of the ZnO nanoparticles/chitosan seed layer-coated ZnO nanorods on a gold-coated glass substrate. This study has shown that the ZnO nanorods are well-aligned, uniform, and dense, exhibit the wurtzite hexagonal structure, and are perpendicularly oriented to the substrate. Moreover, the ZnO nanorods are only composed of Zn and O atoms. An optical study was also carried out for the ZnO nanoparticles/chitosan seed layer-coated ZnO nanorods, and the obtained results have shown that the fabricated ZnO nanorods exhibit good crystal quality. This study has provided a cheap fabrication method for the controlled morphology and good alignment of ZnO nanorods, which is of high demand for enhancing the working performance of optoelectronic devices

Performance evaluation of different transport layer protocols on the IEEE 802.11 and IEEE 802.15.4 MAC/PHY layers for WSN

Wireless Sensor Networks (WSN) has gathered lot of attention from the research community lately. Among other WSN communication protocols, transport layer protocol plays a significant role in maintaining the node?s energy budget. In this context we have carried out extensive testing of various transport protocols using IEEE 802.11, IEEE 802.15.4 MAC/PHY protocol and Ad hoc On-Demand Distance Vector Routing (AODV) routing agent for WSN having multi-hop ad-hoc and WPAN network topology. The main contribution of this paper is to find out the dependency of Transport layer on MAC layer. Simulation results indicate that the underlying MAC/PHY layer protocol along with Transport layer protocol plays a vital role in achieving the high throughput, low latency and packet loss rate in WSN. For IEEE 802.11 with RTS/CTS ON high throughput, low packet drop rate and increased end-to-end packet delay is observed. While for IEEE 802.15.4 similar behavior as for IEEE 802.11 (except for UDP) but with improved power efficiency is observed. This has led the foundation for the future development of the proposed cross layered energy efficient transport protocol for multimedia application

In vivo investigation of interactions between replisome components in Escherichia coli: An expanded model for the processivity switch

Background: Protein interactions within the replisome (a highly coordinated protein complex) are crucial to maintain temporal and spatial regulation for high fidelity DNA synthesis in Escherichia coli (E. coli). A key component of these interactions is the processivity switch, ensuring smooth transition of the replicative DNA polymerase III (Pol III) between Okazaki fragments on the lagging strand. Multiple interaction studies between replisome components have been performed to indicate the essential roles of Pol III (DnaE), β-clamp, DnaB helicase, DNA and the t (DnaX) subunit for this switch.Methods: Known interacting regions of both DnaE and various truncated versions of t were chosen for co-expression in E. coli. Differences in the growth pattern of cells co-expressing various truncated versions of DnaX and DnaE, on liquid and solid media were subsequently analyzed. Based on in vivo analyses to explore the interactions between these components, an expanded model for the processivity switch is presented here.Results: The analyses suggest that residues 481-643 of t are sufficient to establish a functional interaction with the DnaB helicase and DnaE during replication, while residues 461-480 of t interact with the C-terminal tail of DnaE to disengage Pol III from the β-clamp during processivity switching. We also propose that residues 430-460 of t are involved in sensing the DNA structure required for the processivity switch.Conclusion: These observations expand the current understanding of processivity switching and help dissect the regions of t utilized for binding to different replisome components such as DnaB helicase, polymerase and DNA.Keywords: Processivity Switch; Clamp Loader; DnaE; DnaX; DnaB Helicas

Prioritizing Information for Achieving QoS Control in WSN

Achieving QoS objective in Wireless Sensor Network (WSN) that deals with multimedia information is of paramount importance in the WSN research community. From the application point of view, meeting application specific QoS constraints is equally important as designing energy efficient embedded circuitry for WSN nodes. Among various WSN communication protocol stack, the transport layer functionality has gain fundamental fame lately in addressing the application specific QoS objectives by supporting Source prioritization besides the reliability and congestion control aspects of the design that helps in gaining high throughput with minimum end-to-end packet latency. This paper present the design of a new transport layer protocol that prioritizes sensed information based on its nature while simultaneously supporting the data reliability and congestion control features.The proposed transport protocol is tested in three possible scenarios i.e. with priority, without and distributed priority features. Simulation results reveal that by prioritizing the Source information and prioritized intermediate storage and forwarding reduces the End-to-End (E-2-E) latency of Source packets having 400 msec which is quite significant. Simulation test has been performed for distributed prioritized intermediate storage and forwarding among which the network distribution with node K as prioritized intermediate storage node (DIST-K) outperformed all of the mentioned cases by having 100% achieved Source priority,0% packet drop rate and 0.28 Mbps achieved bit rate

Priority Enabled Transport Layer Protocol for Wireless Sensor Network

Achieving Quality of Service (QoS) objective in Wireless Sensor Network (WSN) handling the multimedia information has significantly gained the importance lately besides energy efficient hardware designing. Transport layer of the WSN communication protocol stack plays a significant role in meeting the QoS objective of WSN. This paper presents a light weight transport protocol for WSN that can handle packets from a numbers of sources having different sensed information and having different priority levels. The protocol assigned middle motes are intelligent enough to achieve prioritization in transmission based on the priority level and packet's Time-To-Live (TTL) information. Extensive simulation is carried out for the three different modes of the envisaged protocol having no prioritized enabled storage, complete prioritized enabled storage and distributed prioritized enabled storage. The results reveal that the significant improvement is observed in case of distributed prioritized enabled storage, approximately 3% data loss occurred, in comparison to 7% data loss for without prioritized enabled storage mode

What comes after the quota went? Effects of and responses to the ATC expiry

Abstract The global environment after the expiry of the quota system in textiles and clothing (T&C) trade poses formidable challenges to human development in Pakistan. Increased quality and price competition in the post-ATC scenario provides an opportunity for some segments of the T&C sector – but a threat to the most labour-intensive ones. As quality and quantity of employment were largely ignored factors in the preparations for the Agreement on Textiles and Clothing’s (ATC’s) abolition in Pakistan, potential job and wage losses are feared, in garment manufacturing in particular. Unskilled and female workers are most vulnerable

Equitable edge colored Steiner triple systems

A k-edge coloring of G is said to be equitable if the number of edges, at any vertex, colored with a certain color differ by at most one from the number of edges colored with a different color at the same vertex. An STS(v) is said to be polychromatic if the edges in each triple are colored with three different colors. In this paper, we show that every STS(v) admits a 3-edge coloring that is both polychromatic for the STS(v) and equitable for the underlying complete graph. Also, we show that, for v 1 or 3 (mod 6), there exists an equitable k-edge coloring of K which does not admit any polychromatic STS(v), for k = 3 and k = v - 2