Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome

The ectrodactyly-ectodermal dysplasiaclefting syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene, a transcription factor belonging to the p53 family. The majority of cases of ectrodactyly-ectodermal dysplasia syndrome are caused by de novo mutations and are therefore sporadic in approximately 60% of patients. The substitution of arginine to histidine (R279H), due to a c.836G>A mutation in exon 7 of the p63 gene, represents 55% of the identified mutations and is considered a mutational hot spot. A quantitative and sensitive real-time PCR was performed to quantify both wild-type and R279H alleles in DNA extracted from peripheral blood and RNA from cultured epithelial cells. Standard curves were constructed for both wild-type and mutant probes. The sensitivity of the assay was determined by generating serial dilutions of the DNA isolated from heterozygous patients (50% of alleles mutated) with wild-type DNA, thus obtaining decreasing percentages of p63 R279H mutant allele (50%, 37.5%, 25%, 12.5%, 10%, 7.5%, 5%, 2.5%, and 0.0%). The assay detected up to 1% of the mutant p63. The high sensitivity of the assay is of particular relevance to prenatal diagnosis and counseling and to detect therapeutic effects of drug treatment or gene therapy aimed at reducing the amount of mutated p63. © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Using location-aware technology for learning Geography in a real digital space outside the classroom

The use of new mobile technologies is still in its infancy in many secondary schools and there is limited evidence of the educational and pedagogical benefits on pupils’ learning in the formal school context. This qualitative study focuses on the use of handheld devices to teach a topic in geography to an examination class. Action research combined with pupil observations and focus group interviews are used to capture the pupils’ experiences of using mediascapes. Activity Theory is used as a lens to structure the analysis of the data and to report on the cognitive and affective impact of m-learning on pupils’ academic performance in the topic. Increased attainment and the development of wider skills for lifelong learning were identified in the study. The adaptability of the majority of pupils to the technology resulted in increased levels of willingness to learn in this novel context.

The Effect of Real Time Phase Conjugation Within a Reverberant Environment

In this study, the authors provide experimental characterisation of the field location effects that occur within a reverberant environment. This is achieved using a single active analogue phase conjugating unit positioned within a reverberant chamber. The authors demonstrate significant spatial focusing of ON-OFF-keyed 2.4 GHz signals. Furthermore, the effect of polarisation randomisation within such environments is discussed and it is shown that the system is highly tolerant of antenna orientation and does not require line of sight for its operation. © 2012 The Institution of Engineering and Technology.

Interlaboratory comparison of real-time polymerase chain reaction methods to detect Coxiella burnetii, the causative agent of Q fever

The bacterium Coxiella burnetii, which has a wide host range, causes Q fever. Infection with C burnetii can cause abortions, stillbirth, and the delivery of weak offspring in ruminants. Coxiella burnetii infection is zoonotic, and in human beings it can cause chronic, potentially fatal disease. Real-time polymerase chain reaction (PCR) is increasingly being used to detect the organism and to aid in diagnosis both in human and animal cases. Many different real-time PCR methods, which target different genes, have been described. To assess the comparability of the C. burnetii real-time PCR assays in use in different European laboratories, a panel of nucleic acid extracts was dispatched to 7 separate testing centers. The testing centers included laboratories from both human and animal health agencies. Each laboratory tested the samples using their in-house real-time PCR methods. The results of this comparison show that the most common target gene for real-time PCR assays is the IS1111 repeat element that is present in multiple copies in the C. burnetii genome. Many laboratories also use additional real-time PCR tests that target single-copy genes. The results of the current study demonstrate that the assays in use in the different laboratories are comparable, with general agreement of results for the panel of samples.

Applying an XC6200 to real-time image processing

This implementation of a two-dimensional discrete cosine transform demonstrates the development of a suitable architectural style for a specific technology-in this case, the Xilinx XC6200 FPGA series. The design exploits distributed arithmetic, parallelism, and pipelining to achieve a high-performance custom-computing implementation.

A Low Complexity Real-time MIMO-Preprocessing For Fixed Complexity Sphere Decoder

Modern Multiple-Input Multiple-Output (MIMO) communication systems place huge demands on embedded processing resources in terms of throughput, latency and resource utilization. State-of-the-art MIMO detector algorithms, such as Fixed-Complexity Sphere Decoding (FSD), rely on efficient channel preprocessing involving numerous calculations of the pseudo-inverse of the channel matrix by QR Decomposition (QRD) and ordering. These highly complicated operations can quickly become the critical prerequisite for real-time MIMO detection, exaggerated as the number of antennas in a MIMO detector increases. This paper describes a sorted QR decomposition (SQRD) algorithm extended for FSD, which significantly reduces the complexity and latency
of this preprocessing step and increases the throughput of MIMO detection. It merges the calculations of the QRD and ordering operations to avoid multiple iterations of QRD. Specifically, it shows that SQRD reduces the computational complexity by over 60-70% when compared to conventional
MIMO preprocessing algorithms. In 4x4 to 7x7 MIMO cases, the approach suffers merely 0.16-0.2 dB reduction in Bit Error Rate (BER) performance.