A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated

High Precision SAR ADC Using CNTFET for Internet of Things

A high precision 10-bit successive approximation register analog to digital converter (ADC) designed and implemented in 32nm CNTFET process technology at the supply of 0.6V, with 73.24 dB SNDR at a sampling rate of 640 MS/s with the average power consumption of 120.2 μW for the Internet of things node. The key components in CNTFET SAR ADCs are binary scaled charge redistribution digital to analog converter using MOS capacitors, CNTFET based dynamic latch comparator and simple SAR digital code error correction logic. These techniques are used to increase the sampling rate and precision while ensuring the linearity, power consumption and noise level are within the limit. The proposed architecture has high scalability to CNTFET technology and also has higher energy efficiency. We compared the results of CNTFET based SAR ADC with other known architectures and confirm that this proposed SAR ADC can provide higher precision, power efficiency to the Internet of things node

Evidence for transcription attenuation rendering cryptic a sigmaS- dependent promoter of the osmotically regulated proU operon of Salmonella typhimurium

The osmotically regulated proU locus in Escherichia coli has two promoters, P1 and P2, that are recognized, respectively, by the σ S- and σ 70-bearing RNA polymerase holoenzymes. However, the equivalent of the P1 promoter does not appear to exist in Salmonella typhimurium. We demonstrate in this study that wild-type S. typhimurium has a cryptic P1 promoter that is recognized by σ S RNA polymerase in vitro and that a 22-bp deletion from +63 to +84 (relative to the start site of transcription) confers σ S-dependent in vivo expression of a reporter gene fusion to P1. Primer extension analysis of RNA isolated from cells carrying the wild-type and mutant S. typhimurium proU constructs indicated that a primer which hybridizes proximal to +60 is able to detect P1-initiated transcripts from both constructs but a primer which hybridizes distal to +85 is able to do so only from the latter. Our results suggest that the σ S-controlled proU P1 promoter in S. typhimurium may be rendered cryptic because of factor-dependent transcription attenuation within a short distance downstream of the promoter start site

Development of Prototype model for Wireless based Controlled Pick and Place Robotic Vehicle

The main aim of this research work is to develop and design a proto type model for a pick and place robotic vehicle with a soft catching gripper that can be controlled by android OS for remote operation. At the transmitting end using android application device, commands are sent to the receiver to control the movement of the robotic vehicle. Meanwhile at the receiving end four motors are interfaced to the microcontroller where two for them are used for arm movement while the other two are for the body movement. The android application device transmitter will acts as a remote control while the receiver end Bluetooth device is fed to the microcontroller to drive DC motors via motor driver IC for necessary work. Remote operation is achieved by any smart phone with AndroidOS; upon a GUI (Graphical User Interface) based touch screen operation. DOI: http://dx.doi.org/10.11591/telkomnika.v14i1.737

Twenty years of geomagnetic field observations at Mario Zucchelli Station (Antarctica)

During the 1986-87 austral summer a geomagnetic observatory was installed at Terra Nova Bay. During the first years both geomagnetic field time variation monitoring and absolute measurements were carried out only during summer. Since 1991 variometer measurements are automatically performed during the whole year, while absolute measurements are still performed only during summer. In spite of this, interesting observations were obtained during the life (quite long for Antarctica) of the geomagnetic observatory. In particular in this paper some of the most relevant results are briefly presented: studies about secular variation, daily variation (and its dependence from solar cycle and seasons) and geomagnetic higher frequency variations, such as geomagnetic pulsations

Logixpro Based Scada Simlations Model for Packaging System in Dry ICE Plant

Supervisory Control and Data Acquisition (SCADA) systems control and monitor industrial and critical infrastructure functions, such as electricity, gas, water, waste, railway, and traffic. The main objective of this work is to develop SCADA simulation model for packaging system in dry ice plant. Dry ice is an important refrigerant for keeping foods cold and preventing bacterial growth during shipment. Dry ice used for cooling or freezing foods must be very clean and considered food grade to ensure that food it may touch will not be contaminated. Some recent developments for its use include using the pellets in blasting or cleaning and its increasing use in transporting medical specimens, including hearts, limbs, and tissues, for reattachment and transplantation. The manufacturing process of dry ice has not changed significantly in many decades and is a relatively simple process of pressurizing and cooling gaseous carbon dioxide. But because of its growing demand, packaging becomes vital. An attempt has been made to develop and automate LOGIXPRO based SCADA simulations for dry ice plant to improve packaging and extensively reduce operating labor costs

Effects of H-NS and potassium glutamate on &#963;<SUP>S</SUP>- and &#963;<SUP>70</SUP>-directed transcription in vitro from osmotically regulated P1 and P2 promoters of proU in Escherichia coli

We have used supercoiled DNA templates in this study to demonstrate that transcription in vitro from the P1 and P2 promoters of the osmoresponsive proU operon of Escherichia coli is preferentially mediated by the &#963;s and &#963;70-bearing RNA polymerase holoenzymes, respectively. Addition of potassium glutamate resulted in the activation of transcription from both P1 and P2 and also led to a pronounced enhancement of &#963;s selectivity at the P1 promoter. Transcription from P2, and to a lesser extent from P1, was inhibited by the nucleoid protein H-NS but only in the absence of potassium glutamate. This study validates the existence of dual promoters with dual specificities for proU transcription. Our results also support the proposals that potassium, which is known to accumulate in cells grown at high osmolarity, is at least partially responsible for effecting the in vivo induction of proU transcription and that it does so through two mechanisms, directly by the activation of RNA polymerase and indirectly by the relief of repression imposed by H-NS

An Integrated Image Processing Approach for Diagnosis of Groundnut Plant Leaf Disease using ANN and GLCM

372-376The plants are highly significiant for human life and animal life. Plants also suffer from illness (i.e., diseases) like humans and animals. Groundnut plant is more prone to diseases in the agriculture sector. Cercospora is the most common leaf disease in the groundnut. Entire plant gets infected by the diseases which include stem, root, flower and leaves. For controlling and managing the diseases human involvement is necessary as it is time consuming for classification and recognition of groundnut leaf diseases. The process is longer and costlier hence an automatic image processing method is adopted. In this paper, the images of groundnut leaves are collected and preprocessed by median filter. The preprocessed images are segmented by multi threshold based color segmentation. These segmented images are fed to feature extraction by Gray Level Co-ocurrance Matrix (GLCM) and feature selection by rough set approach and the leaf diseases are classified by ANN and SVM classifier. Finally the performance measures are made by comparing the accuracy and sensitivity of ANN and SVM classifiers to prove the effectiveness of ANN

[18F]FDG-6-P as a novel in vivo tool for imaging staphylococcal infections

Background Management of infection is a major clinical problem. Staphylococcus aureus is a Gram-positive bacterium which colonises approximately one third of the adult human population. Staphylococcal infections can be life-threatening and are frequently complicated by multi-antibiotic resistant strains including methicillin-resistant S. aureus (MRSA). Fluorodeoxyglucose ([18F]FDG) imaging has been used to identify infection sites; however, it is unable to distinguish between sterile inflammation and bacterial load. We have modified [18F]FDG by phosphorylation, producing [18F]FDG-6-P to facilitate specific uptake and accumulation by S. aureus through hexose phosphate transporters, which are not present in mammalian cell membranes. This approach leads to the specific uptake of the radiopharmaceutical into the bacteria and not the sites of sterile inflammation. Methods [18F]FDG-6-P was synthesised from [18F]FDG. Yield, purity and stability were confirmed by RP-HPLC and iTLC. The specificity of [18F]FDG-6-P for the bacterial universal hexose phosphate transporter (UHPT) was confirmed with S. aureus and mammalian cell assays in vitro. Whole body biodistribution and accumulation of [18F]FDG-6-P at the sites of bioluminescent staphylococcal infection were established in a murine foreign body infection model. Results In vitro validation assays demonstrated that [18F]FDG-6-P was stable and specifically transported into S. aureus but not mammalian cells. [18F]FDG-6-P was elevated at the sites of S. aureus infection in vivo compared to uninfected controls; however, the increase in signal was not significant and unexpectedly, the whole-body biodistribution of [18F]FDG-6-P was similar to that of [18F]FDG. Conclusions Despite conclusive in vitro validation, [18F]FDG-6-P did not behave as predicted in vivo. However at the site of known infection, [18F]FDG-6-P levels were elevated compared with uninfected controls, providing a higher signal-to-noise ratio. The bacterial UHPT can transport hexose phosphates other than glucose, and therefore alternative sugars may show differential biodistribution and provide a means for specific bacterial detection