Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. So far, 41 single-base-pair (bp) substitutions, one two-bp substitution, and four deletions ranging from 3 to 42 bp have been identified in this gene. These mutations do not appear to be significantly clustered in a specific part of the protein, but occur in all three major domains, namely the intradiscal, transmembrane, and cytoplasmic regions. Different mutations appear to cause differences in the severity of the disease, though there is considerable variability in severity even within the same family, at least in certain of these mutations. Identification of all the mutations involved in rhodopsin-RP should allow accurate and early detection of affected individuals, informed genetic counselling, as well as furthering our knowledge of the disease process involved.     

Improved strained HEMT characteristics using double-heterojunctionIn0.65Ga0.35As/In0.52Al0.48As design

The DC and microwave properties of strained In_0.65Ga _0.35As/In₀₅₂Al_0.48As HEMTs (high electron-mobility transistors) with double-heterojunction design are presented. The high sheet carrier density and good carrier confinement give rise to excellent device performance with very low output conductance. For 1×150-μm² long-gate HEMTs, the measured cutoff frequency f_T and maximum frequency of oscillation f_max are as high as 37 and 66 GHz, respectively     

cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)

Defects in the Drosophila norpA (no receptor potential A) gene encoding a phosphoinositide-specific phospholipase C (PLC) block invertebrate phototransduction and lead to retinal degeneration. The mammalian homolog, PLCB4, is expressed in rat brain, bovine cerebellum, and the bovine retina in several splice variants. To determine a possible role of PLCB4 gene defects in human disease, we isolated several overlapping cDNA clones from a human retina library. The composite cDNA sequence predicts a human PLC beta 4 polypeptide of 1022 amino acid residues (MW 117,000). This PLC beta 4 variant lacks a 165-amino-acid N-terminal domain characteristic for the rat brain isoforms, but has a distinct putative exon 1 unique for human and bovine retina isoforms. A PLC beta 4 monospecific antibody detected a major (130 kDa) and a minor (160 kDa) isoform in retina homogenates. Somatic cell hybrids and deletion panels were used to localize the PCLB4 gene to the short arm of chromosome 20. The gene was further sublocalized to 20p12 by fluorescence in situ hybridization.     

Correction to: “SPOCU”: scaled polynomial constant unit activation function

Neural Computing and Applications - Addendum on SPOCU fitting and Erratum.     

A case of using the Semantic Interoperability Framework for custom orthopedic implants manufacturing

The efficiency and effectiveness of the daily practice in orthopedic surgery depend on the availability, interoperability and unique access to a wide set of information, related to the patient’s medical record and diagnosis, domain knowledge and available resources and staff. The most important of the tangible resources, needed for the therapeutic or preventive actions are orthopedic implants. In some cases, the implants may be highly complex and customized products, which need to be manufactured (assembled) on basis of the above information in a shortest possible timeframe. In this paper, the case of the custom orthopedic implants manufacturing is described from the perspective of the collaborative enterprising, with special consideration of the interoperability issues of the involved enterprise collaboration. It is shown how the previously developed Semantic Interoperability Framework can be used to improve the efficiency of the manufacturing and other relevant processes.     

Bead-based polymerase chain reaction on a microchip

We present a bead-based approach to microfluidic polymerase chain reaction (PCR), enabling fluorescent detection and sample conditioning in a single microchamber. Bead-based PCR, while not extensively investigated in microchip format, has been used in a variety of bioanalytical applications in recent years. We leverage the ability of bead-based PCR to accumulate fluorescent labels following DNA amplification to explore a novel DNA detection scheme on a microchip. The microchip uses an integrated microheater and temperature sensor for rapid control of thermal cycling temperatures, while the sample is held in a microchamber fabricated from (poly)dimethylsiloxane and coated with Parylene. The effects of key bead-based PCR parameters, including annealing temperature and concentration of microbeads in the reaction mixture, are studied to achieve optimized device sensitivity and detection time. The device is capable of detecting a synthetically prepared section of the Bordetella pertussis genome in as few as 10 temperature cycles with times as short as 15?min. We then demonstrate the use of the procedure in an integrated device; capturing, amplifying, detecting, and purifying template DNA in a single microfluidic chamber. These results show that this method is an effective method of DNA detection which is easily integrated in a microfluidic device to perform additional steps such as sample pre-conditioning.     

Prediction of venturi scrubber efficiency used in an updraft gasifier cleaning train

The performance of a venturi scrubber in the removal of tar from gas in updraft gasification has been studied. The gasifier has been operated with a husk feed rate of 1.6 × 10^?4 kg/s. The venturi scrubber has been operated at a superficial gas velocity of 56.4 m/s at the throat. A wide variety of scrubbing liquids having surface tensions ranging from 0.026 to 0.072 N/m have been used. The Q_g/Q_l, has been varied in the range of 1000–8000. The tar separation efficiency η has been found to vary from 51 to 98.5%. A mathematical model, assuming steady-state operation, has been developed considering very high pseudosolubility of tar in the scrubbing liquids. The predicted values of η have been compared with experimental results. The model satisfactorily explains the tar removal efficiency of the venturi for Q_g/Q_l values ranging from 4000 to 8000 for all scrubbing liquids. The following correlation has been developed for predicting venturi scrubber efficiency: .     

Traumatogenic factors affecting the knees of carpet installers

An ergonomics analysis of carpet installation tasks was performed. The purpose was to identify and quality potential sources of biomechanical trauma that may be responsible for the high rates of knee morbidity found by previous researchers among carpet layers. Nine carpet layers were studied either at an apartment building worksite or at a training school. Results from a job analysis indicated that workers spent approximatately 75% of their time in the kneeling position using a tool called a knee-kicker to stretch and install carpet. Awkward body postures were identified from films of workers installing carpets. At the moment of impact the knee is severely flexed, subtended angles were less than 60 degrees. To obtain measures of impact force on the knee, the kicker-tool was instrumented with a load cell. Workers who executed the hardest kicks with the tool produced impact peak forces that averaged 3019 newtons (N), which is equivalent to about four times body weight. Measures from an accelerometer attached to the worker's knee showed values in ecxess of 120 m/s², which are comparable to those found during vigorous running and jumping exercises. The results imply that repetitive impact of the knee joint from the use of the knee-kicker combined with knee flexion, kneeling and squatting may be responsible for the high level of occupational knee-morbidity found among carpet layers.     

The initiation of crack growth in linear polyethylene

The initiation of crack growth was observed in single edge notched tensile specimens under plane strain conditions. The shape of the deformation zone varied from being balloon-like above 12 MPa and nearly planar below but neither shape conformed to that predicted by the conventional shear type yield criteria. The initial damaged zone grew at a constant velocity with a stress dependence ofV=V ₀ ⁿ . The spectrum of damage morphologies that preceed crack growth consists of a leading edge of crack-like pores followed by a region of increasing fibrillation which is terminated by a region of increasing fibril fracture.