High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing

Approximately 85% of patients with Alport syndrome (hereditary nephritis) have been estimated to have mutations in the X chromosomal COL4A5 collagen gene; the remaining cases are autosomal with mutations in the COL4A3 or COL4A4 genes located on chromosome 2. In the present work, the promoter sequence and previously unknown intron sequences flanking exons 2 and 37 of COL4A5 were determined. Furthermore, intron sequences flanking the other 49 exons were expanded from 35 to 190 to facilitate mutation analysis of the gene. Using this information, all 51 exons and the promoter region were PCR-amplified and sequenced from DNA of 50 randomly chosen patients with suspected Alport syndrome. Mutations were found in 41 patients, giving a mutation detection rate of 82%. Retrospective analysis of clinical data revealed that two of the cases might be autosomal. Although it could not be determined whether the remaining seven cases (14%) were autosomal or X chromosome-linked, it is likely that some of them were autosomal. It is concluded that PCR amplification and direct DNA sequencing of the promoter and exons is currently the best procedure to detect mutations in COL4A5 in Alport syndrome.     

Femtosecond nanofocusing with full optical waveform control

The simultaneous nanometer spatial confinement and femtosecond temporal control of an optical excitation has been a long-standing challenge in optics. Previous approaches using surface plasmon polariton (SPP) resonant nanostructures or SPP waveguides have suffered from, for example, mode mismatch, or possible dependence on the phase of the driving laser field to achieve spatial localization. Here we take advantage of the intrinsic phase- and amplitude-independent nanofocusing ability of a conical noble metal tip with weak wavelength dependence over a broad bandwidth to achieve a 10 nm spatially and few-femtosecond temporally confined excitation. In combination with spectral pulse shaping and feedback on the second-harmonic response of the tip apex, we demonstrate deterministic arbitrary optical waveform control. In addition, the high efficiency of the nanofocusing tip provided by the continuous micro- to nanoscale mode transformation opens the door for spectroscopy of elementary optical excitations in matter on their natural length and time scales and enables applications from ultrafast nano-opto-electronics to single molecule quantum coherent control.     

The influence of expanding media menus on audience content selection

When Smith [The Wired Nation. Cable TV: The Electronic Communications Highway. Harper & Row, New York, 1972] described the “wired nation” some three decades ago, he saw an abundance of content and services that eventually would provide audiences with an almost unlimited menu of options. Almost three decades later, that vision has expanded beyond cable television to include satellite and cable systems offering 150 channels or more and an Internet whose “menu” is constantly expanding and literally indeterminate.

This study examines people's diverse interests and Internet use, media use, and interpersonal communication patterns. A survey of a major metropolitan area tapped people's interests across 19 categories ranging from business and music to the environment, cooking, entertainers and other cultures. Also measured were access to communication technologies, Internet use, web diversity, media and interpersonal communication patterns and social categories. Results supported the hypothesis that diversity of interests would be positively associated with diversity of website use. Relationships also were found between diversity of interests and patterns of media use, and specific interest dimensions were linked to frequency of particular media behaviors.     

Prototype Data Concentrator ASIC for Time-Projection Chamber of MPD Experiment

Russian Microelectronics - The results of the prototype development of a data concentrator application-specific integrated circuit (ASIC) for the time-projection chamber of the MPD experiment...     

NISOMI: a computer system for opaque mineral identification

NISOMI (Nottingham Interactive System for Opaque Mineral Identification) consists of a set of versatile computer programs and associated data files that use reflectance and microhardness measurements on opaque minerals in polished mounts for the purpose of mineral identification. The search algorithm is based upon interpolated reflectance measurements at four standard wavelengths (470, 546, 589, and 650 nm), chromaticity and microhardness (VHN). The programs are written in BASIC and structured for use on small computers.     

FutureHome: An integrated construction automation approach

This article presents the results of the FutureHome project, the first global project in the construction industry that introduces the ICA concept. The design, planning, and onsite robotization stages of house-building construction have been presented. The main advantage introduced by FutureHome is the integration of the three stages under common data and concept. The article focuses on the architectural design of residential houses and office buildings by using prefabricated modules. The design takes into account the prefabrication and onsite assembly. For efficient construction, a global planning strategy has been developed that integrates the prefabrication, transportation, and onsite processes. Finally, the robotized crane for the assembly of big 3-D modules with small tolerances is presented. The control strategy for adequate assembly with the reduction of positioning errors, rotation errors, and swinging of the modules, has been developed and tested     

Orthogonal convolutional coding for the PPM optical channel

Several coding alternatives have been analyzed to improve the performance of the ideal optical pulse position modulation (PPM) optical channel, although it has been shown that performance improvements are difficult to obtain for transmission efficiencies over 1 nat/photon. In the present work, an orthogonal convolutional coding scheme is proposed, achieving better performances than previous coding alternative, over a wide range of efficiencies. Furthermore, a concatenated coding scheme using an orthogonal convolution code as an inner code and a Reed-Solomon code as an outer code is proved to be effective, achieving operation points over 3 nat/photon, with performances that cannot be obtained with other coding schemes     

Performance of Haar wavelet based scale-code division multiple access (HW/S-CDMA) using decorrelating multi-user detector

Recently, we have proposed a new multi-rate/multi-media system called wavelet based scale-code division multiple access (W/S-CDMA) that depends on the code, time and scale orthogonality introduced by pseudo-noise (PN) sequences, and wavelets. Wavelets are used as an orthogonal set of symbols for signaling, and their orthogonality is exploited over scale and time. In this system, the channel is divided into different scales, and each scale into time slots. In addition, the PN sequences are used in each scale to accommodate multiple users. In other words, each user encodes its successive information symbols with time-shifted replicas of the same basic wavelet in a specific scale and spreads its scaled and translated wavelets with its PN sequence. The finer the scale used, more symbols are transmitted. In this paper, we analyze the performance of Haar wavelet based S-CDMA (HW/S-CDMA) over a synchronous additive white Gaussian noise (AWGN) channel using a decorrelating multi-user detector. Results reveal that HW/S-CDMA holds promise since the users of HW/S-CDMA can achieve variable and higher data rates than those of direct sequence (DS)-CDMA for a similar bit error rate performance when real-valued PN sequences are used. However, HW/S-CDMA achieves better performance than DS-CDMA when complex-valued PN sequences are used. In addition, for all rates the same performance is achieved in HW/S-CDMA and the multi-user detector has no processing delay for different rates and has the same features as the standard decorrelating detector. Because of the reuse capability introduced by the scales, HW/S-CDMA is also capable of employing many available PN sequences from the optimal PN sequence families with limited number of sequences such as Kasami, Bent, etc.     

An integrated circuit for reading out signals of silicon detectors

An integrated circuit (IC) for recording signals and studying characteristics of silicon detectors is designed and experimentally checked. The basic purpose of the IC is to use it in test setups with sources of ionizing radiation and on accelerators for studying silicon detectors of a new geometry (layout). The IC allows evaluation of the operation of the “silicon detector-readout electronics” system for relativistic particles and nuclei with a charge from Z = 1 to Z > 50. The results of designing the IC and its experimental characteristics are given.