Search results for "AMPLIFICATION"
showing 10 items of 258 documents
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
2012
Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…
Experimental generation of parabolic pulses via Raman amplification in optical fiber
2003
Parabolic pulse generation via Raman amplification is experimentally demonstrated in 5.3 km of non-zero dispersion shifted fiber presenting normal group velocity dispersion at the injected signal pulse wavelength of 1550 nm. The fiber is pumped by a commercially-available continuous wave source at 1455 nm, and the intensity and chirp of the amplifier output are characterized using frequency-resolved optical gating. For 2.4 pJ input pulses of 10 ps duration, the output pulse characteristics are studied as a function of amplifier gain over the range 11-24 dB, allowing the evolution of the input pulse to a parabolic pulse to be clearly seen for amplifier gains exceeding 15 dB. Numerical compre…
Experimental properties of parabolic pulses generated via Raman amplification in standard optical fibers
2004
Parabolic pulses at 1550 nm have been generated in a standard telecommunications fiber using Raman amplification. The parabolic output pulse characteristics are studied as a function of input pulse energy and duration.
Efficient protocol for qubit initialization with a tunable environment
2017
We propose an efficient qubit initialization protocol based on a dissipative environment that can be dynamically adjusted. Here the qubit is coupled to a thermal bath through a tunable harmonic oscillator. On-demand initialization is achieved by sweeping the oscillator rapidly into resonance with the qubit. This resonant coupling with the engineered environment induces fast relaxation to the ground state of the system, and a consecutive rapid sweep back to off resonance guarantees weak excess dissipation during quantum computations. We solve the corresponding quantum dynamics using a Markovian master equation for the reduced density operator of the qubit-bath system. This allows us to optim…
A Linguistic Analysis of the Online Debate on Vaccines and Use of Fora as Information Stations and Confirmation Niche
2017
This study looks at the communication between users concerning health risks, with the aim of exploring their use of fora and assessing whether participants establish a niche with like-minded users during these exchanges. By integrating a corpus linguistic approach with content analysis and multiple studies on computer mediated health discourse, this study analyses the intense attention paid to the correlation between the Measles Mumps Rubella (MMR) vaccine and autism, as an example of elaboration of the message and risk of emotive amplification, with fora working as echo chambers. Results include: a) a qualitative analysis of the content of posts and their qualification, b) a focus on the t…
Rapid PCR-based test for identifying Candida albicans by using primers derived from the pH-regulated KER1 gene.
2006
A PCR-based method in combination with a simple, reliable and inexpensive DNA extraction procedure for rapid detection of Candida albicans clinical isolates is described here. The extraction protocol is based on a combination of chemical (NaOH and detergents) and physical (boiling) treatments, thus avoiding many of the problems inherent in the currently available DNA extraction protocols (basically the use of expensive and/or toxic chemical reagents), and may be useful for daily clinical routine. The PCR-based system described here uses a single pair of primers (SC1F and SC1R) deduced from the C. albicans-specific KER1 gene sequence. These primers amplify a 670-bp fragment of the KER1 gene.…
Lack of SCN1A Mutations in Familial Febrile Seizures
2002
Summary: Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…
Galectin-3 Impairment of MYCN-Dependent Apoptosis-Sensitive Phenotype Is Antagonized by Nutlin-3 in Neuroblastoma Cells
2012
MYCN amplification occurs in about 20-25% of human neuroblastomas and characterizes the majority of the high-risk cases, which display less than 50% prolonged survival rate despite intense multimodal treatment. Somehow paradoxically, MYCN also sensitizes neuroblastoma cells to apoptosis, understanding the molecular mechanisms of which might be relevant for the therapy of MYCN amplified neuroblastoma. We recently reported that the apoptosis-sensitive phenotype induced by MYCN is linked to stabilization of p53 and its proapoptotic kinase HIPK2. In MYCN primed neuroblastoma cells, further activation of both HIPK2 and p53 by Nutlin-3 leads to massive apoptosis in vitro and to tumor shrinkage an…
Amplification, contraction and genomic spread of a satellite DNA family (E180) in Medicago (Fabaceae) and allied genera
2011
†Background and Aims Satellite DNA is a genomic component present in virtually all eukaryotic organisms. The turnover of highly repetitive satellite DNA is an important element in genome organization and evolution in plants. Here we assess the presence and physical distribution of the repetitive DNA E180 family in Medicago and allied genera. Our goals were to gain insight into the karyotype evolution of Medicago using satellite DNA markers, and to evaluate the taxonomic and phylogenetic signal of a satellite DNA family in a genus hypothesized to have a complex evolutionary history. †Methods Seventy accessions from Medicago, Trigonella, Melilotus and Trifolium were analysed by PCR to assess …
High-Performance PCR for Alleles Discrimination of Chromo-Helicase-DNA Binding Protein (CHD1) Gene in Bird Sexing
2023
Genetic analyses aiming at assessing the presence of specific sequences or alleles are often carried out by PCR. Sexing of most birds is nowadays based on PCR with “universal” primers and relies on the assessment of the presence of the sex-linked CHD1-Z and -W alleles. The entire workflow is relatively time-consuming, especially for batch analyses, whereas methods that allow carrying out the entire procedure in a short time are highly desirable. The only method for outdoor analyses reported so far relies on LAMP; however; it fails to work properly in Procellariiformes. Besides improving the LAMP test; we have developed a PCR-based DNA amplification procedure (named high-performance PCR); wh…