Autosomal dominant lateral temporal epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the LGI1 gene have been reported in up to 50% of ADLTE ...pedigrees. We report a family with temporal lobe epilepsy characterized by psychic symptoms associated with a novel LGI1 mutation.
All participants were personally interviewed and underwent neurologic examination and video-EEG recordings. LGI1 exons were sequenced by standard methods. Mutant cDNA was transfected into human embryonic kidney 293 cells; both cell lysates and media were analyzed by Western blot. In silico modeling of the Lgi1 protein EPTP domain was carried out using the structure of WD repeat protein and manually refined.
Three affected family members were ascertained, 2 of whom had temporal epilepsy with psychic symptoms (déjà vu, fear) but no auditory or aphasic phenomena, while the third had complex partial seizures without any aura. In all patients, we found a novel LGI1 mutation, Arg407Cys, which did not hamper protein secretion in vitro. Mapping of the mutation on a 3-dimensional protein model showed that this mutation does not induce large structural rearrangements but could destabilize interactions of Lgi1 with target proteins.
The Arg407Cys is the first mutation with no effect on Lgi1 protein secretion. The uncommon, isolated psychic symptoms associated with it suggests that ADLTE encompasses a wider range of auras of temporal origin than hitherto reported.
Recently, new imaging modalities based on the detection of weak phase perturbations effects, among which are phase contrast and diffraction imaging, have been developed by several researchers. Due to ...their high sensitivity to weakly absorbing details, these techniques seem to be very promising for applications in the medical field. On the other hand, digital radiology is undergoing a wide diffusion, and its benefits are presently very well understood. Up to now, however, the strong pixel size constraints associated with phase contrast pattern detection limited the possibility of exploiting the advantages of phase contrast in digital radiology applications. In this paper, an innovative setup capable of removing the pixel size constraints, and thus opening the way to low dose digital phase contrast imaging, is described. Furthermore, we introduce an imaging technique based on the detection of radiation scattered at small angles: the information extracted from the sample is increased at no dose expense. We believe that several radiological fields, mammography being the first important example, may benefit from the herein described innovative imaging techniques.
To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE) negative to LGI1 exon sequencing test.
All participants were personally interviewed and ...underwent neurologic examination. Most affected subjects underwent EEG and neuroradiologic examinations (CT/MRI). Available family members were genotyped with the HumanOmni1-Quad v1.0 single nucleotide polymorphism (SNP) array beadchip and copy number variations (CNVs) were analyzed in each subject. LGI1 gene dosage was performed by real-time quantitative PCR (qPCR).
The family had 8 affected members (2 deceased) over 3 generations. All of them showed GTC seizures, with focal onset in 6 and unknown onset in 2. Four patients had focal seizures with auditory features. EEG showed only minor sharp abnormalities in 3 patients and MRI was unremarkable in all the patients examined. Three family members presented major depression and anxiety symptoms. Routine LGI1 exon sequencing revealed no point mutation. High-density SNP array CNV analysis identified a genomic microdeletion about 81 kb in size encompassing the first 4 exons of LGI1 in all available affected members and in 2 nonaffected carriers, which was confirmed by qPCR analysis.
This is the first microdeletion affecting LGI1 identified in ADLTE. Families with ADLTE in which no point mutations are revealed by direct exon sequencing should be screened for possible genomic deletion mutations by CNV analysis or other appropriate methods. Overall, CNV analysis of multiplex families may be useful for identifying microdeletions in novel disease genes.
X-ray phase contrast imaging arises from changes of the propagation direction of the radiant wave field when traversing the object and it can yield higher contrast for soft tissues than conventional ...x-ray radiology based on attenuation. Commonly intermediate steps are required to transform wave front modulations into intensity modulations measurable by the detection system. One of these phase contrast techniques is analyzer-based imaging (ABI), which utilizes an analyzer crystal as angular filter with a bandwidth in the micro-radian regime placed between the sample and the detector. Furthermore employing appropriate algorithms, attenuation, refraction and scattering/dark field images can be extracted providing complementary information. The implementation of ABI requires X-ray optics with very high stability and micro-radian resolution. In return, this method possesses an extremely high sensitivity among the phase contrast techniques. At the medical beamline of the Italian synchrotron ELETTRA, a patient room has been implemented in order to perform clinical mammography with free-space propagation phase contrast. In this work we have tested the feasibility of ABI in a preclinical set-up implementing the system in the patient room. High quality images of breast tissues samples are presented and compared to images acquired at a conventional mammography unit. The system has shown excellent stability and imaging performances.
A theoretical analysis of the x-ray phase contrast imaging and its validation via synchrotron radiation imaging is here presented. Two different mathematical models have been followed: the simpler ...ray-optical approach and the more rigorous Fresnel-Kirchoff diffraction theory. Subsequently, the conditions upon which the x-ray optical approximation can be used to describe the image formation mechanism have been analyzed, taking into account also the effects due to the finite source size and detector resolution. It is possible to demonstrate that the ray-optics results can also be obtained by opportunely developing the diffraction formalism only with some restrictions on the spatial frequencies present in the final image, without any limitation on the maximum phase shift. The conditions allowing the use of the simplified ray-optical approach to describe the phase contrast images have been here defined and their validation has been proved by means of computer simulations and phantom experiments.
Introduction Iterative tomographic reconstruction techniques are particularly interesting when the number of acquired projections is not enough to match the Nyquist criteria. These techniques differ ...in computational time and image quality. Purpose SIRT, SART and CGLS algorithms have been studied in order to evaluate the application of iterative reconstruction methods to low-dose phase-contrast breast tomography, in the framework of the SYRMA-CT project. The number of iterations has been optimized while reducing the number of projections used during the reconstruction. Materials and methods The tomographic data set of two large breast tissue samples (9 cm) has been acquired using a monochromatic X-ray beam at 38 keV. Images were acquired in propagation-based phase-contrast mode and a single-material single-distance phase-retrieval algorithm was applied to the projections before reconstruction. The codes applied are part of the ASTRA Tomography Toolbox. The quality of the images was evaluated using the CNR and few full-reference quality indexes. The reconstruction performed with the filter back-projection including all the acquired projections was considered as gold standard. Results According to full-reference indexes the best quality is achieved when the CNR is similar to the one of the gold standard. The number of iterations can be used to optimize the noise preserving the visibility of the details. Conclusion Full reference indexes require a gold standard acquired at higher statistics, due to their strong dependence on the noise. The evaluation of a team of radiologists is required to compare full-references quality indexes and diagnostic quality of the reconstructed images. Disclosure Nothing to declare.
The mammography project at the SYRMEP beamline Dreossi, D; Abrami, A; Arfelli, F ...
European journal of radiology,
12/2008, Letnik:
68, Številka:
3
Journal Article, Conference Proceeding
Recenzirano
Abstract A clinical program for X-ray phase contrast (PhC) mammography with synchrotron radiation (SR) has been started in March 2006 at the SYRMEP beamline of Elettra, the SR facility in Trieste, ...Italy. The original beamline layout has been modified substantially and a clinical facility has been realized. In order to fulfill all security requirements, dedicated systems have been designed and implemented, following redundancy criteria and “fail safe” philosophy. Planar radiographic images are obtained by scanning simultaneously the patient and the detector through the stationary and laminar SR beam. In this first phase of the project a commercial screen-film system has been used as image receptor. Upon approval by the respective authorities, the mammography program is about half way to conclusion. Up to now about 50 patients have been examined. The patients are volunteers recruited by the radiologist after conventional examinations at the hospital resulted in an uncertain diagnosis. As an example one case of PhC SR mammography is shown and compared to conventional digital mammography. Preliminary analysis shows the high diagnostic quality of the PhC SR images that were acquired with equal or less delivered dose compared to the conventional ones.
The purpose of this study was to explore the potential of refraction contrast X-ray imaging of biological tissues. Images of dissected mouse lungs, heart, liver and legs were produced using the ...medical beamline at the Elettra Synchrotron at Trieste, Italy. The technique used was diffraction enhanced imaging. This utilizes a silicon crystal positioned between the tissue sample and the detector to separate refracted X-rays from transmitted and scattered radiation by Bragg diffraction. The contrast in the images produced is related to changes in the X-ray refractive index of the tissues, resulting in remarkable clarity compared with conventional X-ray images based on absorption effects. These changes were greatest at the boundaries between different tissues, giving a marked edge enhancement effect and three-dimensional appearance to the images. The technique provides a way of imaging a property of biological tissues not yet exploited, and further studies are planned to identify specific applications in medical imaging.
Purpose:
This study investigates the image quality of tomosynthesis slices obtained from several acquisition sets with synchrotron radiation using a breast phantom incorporating details that mimic ...various breast lesions, in a heterogeneous background.
Methods:
A complex Breast phantom (MAMMAX) with a heterogeneous background and thickness that corresponds to 4.5 cm compressed breast with an average composition of 50% adipose and 50% glandular tissue was assembled using two commercial phantoms. Projection images using acquisition arcs of 24°, 32°, 40°, 48°, and 56° at incident energy of 17 keV were obtained from the phantom with the synchrotron radiation for medical physics beamline at ELETTRA Synchrotron Light Laboratory. The total mean glandular dose was set equal to 2.5 mGy. Tomograms were reconstructed with simple multiple projection algorithm (MPA) and filtered MPA. In the latter case, a median filter, a sinc filter, and a combination of those two filters were applied on the experimental data prior to MPA reconstruction. Visual inspection, contrast to noise ratio, contrast, and artifact spread function were the figures of merit used in the evaluation of the visualisation and detection of low- and high-contrast breast features, as a function of the reconstruction algorithm and acquisition arc. To study the benefits of using monochromatic beams, single projection images at incident energies ranging from 14 to 27 keV were acquired with the same phantom and weighted to synthesize polychromatic images at a typical incident x-ray spectrum with W target.
Results:
Filters were optimised to reconstruct features with different attenuation characteristics and dimensions. In the case of 6 mm low-contrast details, improved visual appearance as well as higher contrast to noise ratio and contrast values were observed for the two filtered MPA algorithms that exploit the sinc filter. These features are better visualized at extended arc length, as the acquisition arc of 56° with 15 projection images demonstrates the highest image reconstruction quality. For microcalcifications, filtered MPA implemented with a combination of median and sinc filters indicates better feature appearance due to efficient suppression of background tissue. The image quality of these features is less sensitive to the acquisition arc. Calcifications with size ranging from 170 to 500 μm, like the ones presently studied, are well identified and visualized for all arcs used. The comparison of single projection images obtained under different beam conditions showed that the use of monochromatic beam can produce an image with higher contrast and contrast to noise ratio compared to an image corresponding to a polychromatic beam even when the latter is acquired with double incident exposure.
Conclusions:
Filter optimization in respect to the type of feature characteristics is important before the reconstruction. The MPA combined with median and sinc filters results in improved reconstruction of microcalcifications and low-contrast features. The latter are better visualized at extended arc length, while microcalcifications are less sensitive to this acquisition parameter. Use of monochromatic beams may result in tomographic images with higher contrast acquired at lower incident exposures.
Detailed optical and near-infrared observations of supernova (SN) 1999E have confirmed early suggestions that this supernova was indeed a twin of the peculiar type II SN 1997cy: it was exceptionally ...luminous and had evolved slowly, and the line profiles had narrow peaks and broad wings, indicating interaction with the circumstellar material. Nevertheless, the most intriguing characteristic was that, in analogy to SN 1997cy, it exploded at a position consistent in time and location with a BATSE event (GRB 980910). The a posteriori probability that the only two SNe with such an optical appearance are associated with two different BATSE gamma-ray bursts (GRBs) is only 0.2 per cent. This raises the possibility that some GRBs are associated with H-rich SNe.
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