118,248 research outputs found
Identification of Novel FBN1 Mutations in Patients with Marfan Syndrome using DHPLC Analysis.
No full textIdentification of Novel FBN1 Mutations in Patients with Marfan Syndrome using DHPLC Analysis.
M. Grasso 1, S. Ansaldi 1, A. Mori 1, A. Pisani 1, L. Lanzarini 2, A. Pilotto 1,
C. Lucchelli 1, L. Tavazzi 2, E. Arbustini 1;
1 Cardiovascular Pathology and Molecular Diagnostic Lab, Transplant
Research Area, IRCCS Policlinico San Matteont, Pavia, Italy, 2
Cardiology Division, IRCCS Policlinico San Matteo, Pavia, Italy.
Marfan Syndrome (MFS, MIM#154700) is an autosomal dominant
inherited connective tissue disorder (prevalence:1/5000) caused
by mutations in the fibrillin-1 gene (FBN1, 15q21). The disorder is
characterised by highly variable phenotypic manifestations, mainly in
cardiovascular, ocular and skeletal systems. The FBN1 (230 Kb, 65
exons, 2871 amino acids) has revealed more than 500 mutations.
We describe 11 novel mutations that were identified in 12 probands
(one with sporadic and ten with familial disease). The MFS diagnosis
was evaluated following the revised diagnostic criteria of the Ghent
nosology. The FBN1 gene was analysed using DHPLC technology
(Transgenomic) and automated sequencing (ABI 3100).All family members were tested for the mutations found. These mutations were absent in 50 controls. Our results suggest that DHPLC is a reliable and cost-effective
technique for the screening of such a large gene and that FBN1 screening could be a helpful tool to confirm and possibly anticipate the clinical diagnosis in familial cases
High sensivity and specificity of denaturing high performance liquid chromatography (DHPLC) for mutation analysis of the FBN1 gene in patients with Marfan syndrome.
No full textHigh sensivity and specificity of denaturing high performance liquid chromatography (DHPLC) for mutation analysis of the FBN1 gene in patients with Marfan syndrome.
A. Mori 1 , S. Ansaldi 1 , M. Grasso 1 , A. Pilotto 1 , C. Lucchelli 1 , L.
Lanzarini 2 , M. Diegoli 3 , L. Tavazzi 2 , E. Arbustini 1 ;
1 Cardiovascular Pathol. and Molec. Diagn. - Res.Transplantation
Lab. , IRCCS Policlinico S.Matteo, Pavia, Italy, 2 Cardiology Division,
IRCCS Policlinico S.Matteo, Pavia, Italy, 3 Department of Pathology
- University of Pavia, Pavia, Italy.
Marfan syndrome is an autosomal dominant inherited disorder of the
connective tissue that principally involves the cardiovascular,ocular
and skeletal systems. The incidence is estimated to be 1:5000, with
25% sporadic cases. The leading cause of death is related to the
cardiovascular involvement, in particular aortic root dilatation and
rupture.
The disease is caused by alteration in FBN1 gene (65 exons, located
at 15q15-q21.1). Causal mutations are scattered throughout the gene
and are largely unique to individual families.
The FBN1 gene was analyzed in 29 unrelated patients suspected
to be affected by Marfan syndrome. To develop an efficient and
faster method capable of identify all possible mutations in this gene,
we introduced DHPLC technology in the analysis of 25 exons in
which mutations recur. We first analysed the FBN1 exons and exon-
flanking non coding regions gene coding regions with automated
sequencing of all 65 exons (ABI PE- 373 DNA Sequencer) to
identify mutations and polymorphisms. Then, DHPLC analysis
was carried out on the WaveTM DNA Fragment Analysis System
(Transgenomic, Cheshire, UK). DNA fragment elution profiles were
displayed using the Transgenomic WAVEMAKER-TM software.
Chromatograms were analysed and amplified fragments showing
alterations were re-confirmed by automated sequencing. Overall, by
direct sequencing we indentify 19 variants (14 in coding regions and
5 in intronic sequences). A corresponding number of heteroduplex
297 profiles was detected with DHPLC with 100% correspondence to the
variant-containing regions previously identified by direct sequencing.
Our results confirms that DHPLC is a highly sensitive and specific
technology for DNA sequence variant detection
Paraffin and other fuels as sources of indoor air pollution in a poor urban settlement in Cape Town, South Africa
No full textR S Bailie, L S Pilotto, R I Ehrlich, S Mbuli, R Truter, P Terblanch
Diabetic macular edema: Correlation between microperimetry and optical coherence tomography findings
Get PDFInvest Ophthalmol Vis Sci. 2006 Jul;47(7):3044-51.
Diabetic macular edema: correlation between microperimetry and optical coherence tomography findings.
Vujosevic S, Midena E, Pilotto E, Radin PP, Chiesa L, Cavarzeran F.
SourceFondazione G. B. Bietti per l'Oftalmologia, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Roma, Italy. [email protected]
Abstract
PURPOSE: To compare the changes in macular sensitivity (microperimetry) and macular thickness with different degrees of diabetic macular edema.
METHODS: Sixty-one eyes of 32 consecutive diabetic patients were included in this cross-sectional study. All included eyes underwent functional and morphologic examination of the macular area. Best corrected visual acuity (ETDRS charts), macular sensitivity, and macular thickness were quantified. Lesion-related macular sensitivity and retinal fixation were investigated with an advanced, automatic microperimeter. Optical coherence tomography (OCT) was used to quantify macular thickness.
RESULTS: The 61 included eyes were graded, by two retinal specialists, for diabetic macular edema as follows: 16 were graded as no macular edema (NE), 30 as non-clinically significant macular edema (NCSME), and 15 as clinically significant macular edema (CSME). Macular thickness significantly increased from the NE to the CSME group (P<0.0001), whereas macular sensitivity significantly decreased from the NE to the CSME group (P<0.0021). A significant correlation coefficient was noted between retinal sensitivity and normalized macular thickness (r=-0.37, P<0.0001). Linear regression analysis showed a decrease of 0.83 dB (P<0.0001) for every 10% of deviation of retinal thickness from normal values. Visual acuity and central macular sensitivity correlated significantly in the NCSME group (r=-0.6, P=0.0008), but not in the NE (r=-0.144, P=0.6) or in the CSME (r=-0.46, P=0.11) groups.
CONCLUSIONS: Macular edema may be better documented by adding macular sensitivity mapping by microperimetry to macular thickness measurement by OCT and visual acuity determination because macular sensitivity seems to be a relevant explanatory variable of visual function, independent of macular thickness data. Moreover, microperimetry may be of value in predicting the outcome of diabetic macular edema, because it incorporates a functional measure that may supplement the predictive value of OCT and visual acuity.
PMID: 16799051 [PubMed - indexed for MEDLINE]
IF 2008: 3.582 - quartile superiore, punti 1
Smart-delivery systems in Nano-Enabled Agriculture. The current state-of-the-art on nanohydroxyapatite
Get PDFThe development of nanotechnologies in the last 25 years has considerably improved, even revolutionized, many technology and industry sectors: information technology, medicine, transportation, energy, environmental science, and everyday products, as well. Nano-enabled agriculture (NEA) describes the application of nanotechnology in agriculture to improve the performance of agrochemicals. NEA mainly focuses on improving the agrochemical uptake efficiency by crops, enhancing plant growth and food safety, and mitigating the environmental impacts of agriculture. However, nanotechnology applications in the agricultural chain are still marginal and have not yet made it to the market in comparison with other industrial sectors. Compared to other productive sectors, the main reason for the slow development of the NAE is due to the specific peculiarities of agriculture.
The use of renewable materials deriving from plant and animal waste biomass to produce nanosized delivery systems in NEA represents a crucial step towards the fulfillment of a circular economy. A paradigmatic example concerns the valorization of hydroxyapatite (nHAP). The paper provides updates on the use of nHAP for sustainable crop phosphorus fertilization and the development of nanohybrids to provide other macro-nutrients loaded on the nHAP structure
Nano-enabled agriculture and circular economy. Nature-derived materials as smart-delivery systems
Get PDFGoing Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Square Dancing with the Stars to Enhance Dynamic Hirschman Linkages?
No full textIn this Presidential Address, the author takes the reader on a reconnaissance of his life and time as a regional scientist. He points out scenery he found scintillating along the way, hoping that some may pick up the banner and chew on a few of the ideas for a while. He suggests a revisit to Albert O. Hirschman’s notion of key sectors and more empirical analysis related to Marcus Berliant’s and Masahisa Fujita’s notion of knowledge creation and transfer.Presidential Address, San Antonio, Texas, March 29, 2014 (53rd Meetings of the Southern Regional Science Association
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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