Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

Rare variants are thought to contribute to the genetics of inflammatory bowel disease (IBD), which is more common amongst the Ashkenazi Jewish (AJ) population. A family-based approach using exome sequencing of AJ individuals with IBD was employed with a view to identify novel rare genetic variants for this disease. Exome sequencing was performed on 960 Jewish individuals including 513 from 199 multiplex families with up to eight cases. Rare, damaging variants in loci prioritized by linkage analysis and those shared by multiple affected individuals within the same family were identified. Independent evidence of association of each variant with disease was assessed. A number of candidate variants were identified, including in genes involved in the immune system. The ability to achieve statistical significance in independent case/control replication data was limited by power and was only achieved for variants in the well-established Crohn's disease gene, NOD2. This work demonstrates the challenges of identifying disease-associated rare damaging variants from exome data, even amongst a favorable cohort of familial cases from a genetic isolate. Further research of the prioritized rare candidate variants is required to confirm their association with the disease.

Short UV luminescence for forensic applications: design of a real-time observation system for detection of latent fingerprints and body fluids.

An assembly that allows a pseudo real-time (one second delay) observation of latent fingerprints by their short ultraviolet luminescence was designed. It is composed of a mercury-xenon lamp and a CCD camera, both water-cooled and computer-controlled. The system is used to study the behaviour of latent fingerprints and stains of body fluids such as blood, semen and saliva under short-UV illumination.

Use of the Hartman sensor to measure the unisoplanatic wavefront tilt.

It is shown that the Hartman wavefront sensor can be used to measure the degree of unisoplanatism under atmospheric wavefront degradations. The measurements conform with theory and show the size of the isoplanatic patch in the object space and the coherent distance at the entrance of the pupil plane. These two measurements are unequal because of inhomogeneous turbulence. This inhomogeneity can be accounted for by using known theory and the height of the line of sight above the ground.

Platelet parameters and aggregation in essential and reactive thrombocytosis.

Platelet characteristics were assessed in 15 patients with essential thrombocytosis (ET), 89 patients with reactive thrombocytosis (RT), and 23 normal controls. A platelet volume distribution width (PDW) greater than or equal to 10.5 was found in 50%, 21%, and 14% of the three groups, respectively (P = 0.01 between patients with ET and patients with RT; P = 0.02 between patients with RT and controls), reflecting an excess of extreme values at both ends of the distribution. Compared with controls, the increase in platelet number in patients with RT was about twofold throughout the platelet volume range, whereas ET was characterized by a fivefold increase in small platelets less than 7.5 fL and threefold increase in larger size platelets. Mean platelet volume (MPV) was significantly lower in patients with ET versus patients with RT and in patients with RT versus controls (mean +/- SD 7.5 +/- 1.2 vs. 8.8 +/- 0.1 and 10.2 +/- 1.8 fL, respectively, P less than 0.01). Rate of in vitro platelet aggregation greater than or equal to 50% was significantly lower in patients with ET versus patients with RT and in patients with RT versus controls (0%, 23%, and 45%, respectively, P less than 0.01). Aggregation rate was positively correlated with MPV (r = 0.54; P less than 0.0001). Aggregation rate in patients with ET was significantly lower (P = 0.01) than expected from their reduced MPV alone. Despite these group differences, the overlap of individual platelet characteristics between the three groups precludes their usefulness for diagnostic purposes.

Aperture averaging effects on the two-color correlation of scintillations.

The scintillation two-color correlation coefficient was measured using a variable aperture. The correlation, at constant aperture, vs turbulence strength and the aperture averaging effects at constant turbulence strength were obtained. The results show a strong decrease or correlation with increasing turbulence strength and a moderate increase with increasing aperture. These results cannot be accounted for by a constant shape turbulence spectrum. It is shown that a turbulence strength-dependent inner scale can explain most of the results using the Rytov approximation.

Sample size influence on optical scintillation analysis. Analytical treatment of the higher-order irradiance moments.

The statistical distribution of the experimentally obtained higher-order moments of optical scintillation probability density is studied. It is shown that this distribution is strongly dependent on the size of the data sample. At reasonable sample sizes the correct estimation of the theoretical value is improbable. At practically available sample sizes the region of the most probable values of the estimated higher-order moment is almost independent of the scintillation probability density function (PDF). The distinction between the candidate PDFs is almost impossible at reasonable sample sizes.

Sample size influence on optical scintillation analysis.2: Simulation approach.

This paper is the second part of the sample size influence analysis. We estimate this influence on different methods of irradiance probability density function (PDF) diagnostics. The estimation is achieved by a Monte Carlo-based simulation. The problem of the fastest effective sampling rate is also considered. The results indicate the low resolving power of conventional irradiance PDF integrating methods.

Temporal prediction of infrared images of ground terrain.

By measuring the IR image of a ground terrain at two different points of time, it is possible to calculate all the local scene invariants. Utilizing the heat balance equation, these scene invariants are used to calculate the IR image of the scene at another point of time. A good agreement with experimental results is obtained.

Simulation of IR images of natural backgrounds.

Two schemes for the simulation of IR images of ground terrain are presented. Both preserve the statistics and power spectra of the temperature variation over the scene according to the experimental findings. The first scheme generates the scene directly in the spatial domain, while the second generates it in the spatial-frequency domain. Each is advantageous according to the simulation task needed.

Television system for the measurement of atmospheric OTF degradation.

A television system utilizing videotape recorder storage is used to store a large number of images degraded by the atmosphere. By using a large number of samples one can obtain an accurate value for the system-atmosphere MTF. The measured transfer functions are in agreement with Fried's analysis, and the values for the index of refraction structure constant are comparable with those obtained from scintillation measurements.

Spectral response of the human eye.

A thermal activation energy of 1.5 eV for the activation of rhodopsin is needed to reduce the rate of thermal activations below the rate of optical activation at the luminance of the absolute threshold. The thermal energy of 1.5 eV is not inconsistent with the optical threshold energy of about 1.8 eV.

A static model for the nanolight discharge.

A stationary model for a spark light source at high current densities and gas pressures is developed. The model assumes that the plasma is in local thermodynamic equilibrium and radiates like a blackbody. The equations employed are the energy balance equation and the circuit equation. The energy balance includes ohmic heating, radiation loss, loss to the boundaries, and ionization. The maximum temperature (radiance) of the source is calculated as a function of gas pressure and initial voltage. A good agreement is found with the previously published experimental results of the nanolight discharge light source. This model is general and can be extended to any high pressure discharge which can be considered stationary.