1,721,041 research outputs found
One4two®: An integrated molecular approach to optimize infertile couples’ journey
No full textThe current diagnostic path of infertile couples is long lasting and often ineffective. Genetic tests, in particular, appear as a limiting step due to their jeopardized use on one side, and to the limited number of genes evaluated on the other. In this context, the development and diffusion, also in routine diagnostic settings, of next generation sequencing (NGS)-based methods for the analyses of several genes in multiple subjects at a time is improving the diagnostic sensitivity of molecular analyses. Thus, we developed One4Two®, a custom NGS panel to optimize the diagnostic journey of infertile couples. The panel validation was carried out in three steps analyzing a total of 83 subjects. Interestingly, all the previously identified variants were confirmed, assessing the analytic sensitivity of the method. Moreover, additional pathogenic variants have been identified underlying the diagnostic efficacy of the proposed method. One4Two® allows the simultaneous analysis of infertility-related genes, disease-genes of common inherited diseases, and of polymorphisms related to therapy outcome. Thus, One4Two® is able to improve the diagnostic journey of infertile couples by simplifying the whole process not only for patients, but also for laboratories and reproduction specialists moving toward an even more personalized medicine. View Full-Text
Characterisation of wall painting in the Sos Furrighesos necropolis (Anela, Italy)
No full textThe Sos Furrighesos necropolis (Anela) is considered to be one of the most important funerary monuments in Sardinia. The hypogeum consists of various graves, called Domus de Janas, which are decorated with Neolithic mural paintings and sculptures. This work was undertaken in order to clarify which techniques were used in the past, through the identification of pigments and binding media. The samples, scraped off from the paint surface, were studied by using various analytical techniques in order to characterise both the pigments and the binding media. The main problems concerning the characterisation were due to the small sizes (1–5 mg) of the samples and their complex nature. As regards pigments, X-ray diffraction and scanning electron microscopy-energy dispersive X-ray spectrometry analyses were performed on the samples. These techniques are well suited to the characterisation of inorganic pigments and have led to the identification of the red pigment as haematite. In order to characterise the organic binders, the samples were analysed by a procedure based on a gas chromatography–mass spectrometry technique, which allows proteinaceous and lipidic media determination in the same sample. In most of the samples, the presence of egg was suggested.The Sos Furrighesos necropolis (Anela) is considered to be one of the most important funerary monuments in Sardinia. The hypogeum consists of various graves, called Domus de Janas, which are decorated with Neolithic mural paintings and sculptures. This work was undertaken in order to clarify which techniques were used in the past, through the identification of pigments and binding media. The samples, scraped off from the paint surface, were studied by using various analytical techniques in order to characterise both the pigments and the binding media. The main problems concerning the characterisation were due to the small sizes (1-5 mg) of the samples and their complex nature. As regards pigments, X-ray diffraction and scanning electron microscopy-energy dispersive X-ray spectrometry analyses were performed on the samples. These techniques are well suited to the characterisation of inorganic pigments and have led to the identification of the red pigment as haematite. In order to characterise the organic binders, the samples were analysed by a procedure based on a gas chromatography-mass spectrometry technique, which allows proteinaceous and lipidic media determination in the same sample. In most of the samples, the presence of egg was suggested. © 2002 Éditions scientifiques et médicales Elsevier SAS. All rights reserved
INTERACTION OF METAL-IONS WITH HUMIC-LIKE MODELS .2. ADDUCTS OF CU(II)-2,6-DIMETHOXYBENZOATES WITH HETEROCYCLIC BASES
No full textSPECTROSCOPIC EVALUATION OF INTERACTIONS AMONG TRACE-ELEMENTS AND BIOGENIC CARBONATES IN THE MARINE-ENVIRONMENT
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SUBSTITUENT EFFECT ON C-13 CHEMICAL-SHIFTS OF 3-(PARA-SUBSTITUTED BENZOYL)-5-AMINO-1,2,4-OXADIAZOLES
No full textThe SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.
No full textBackground: The development of technologies that detect monogenic diseases in embryonic and fetal samples are opening novel diagnostic possibilities for preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) thereby changing laboratory practice. Molecular diagnos- tic laboratories use different workflows for PND depend- ing on the disease, type of biological sample, the presence of one or more known mutations, and the availability of the proband. Paternity verification and contamination analysis are also performed. The aim of this study was to test the efficacy of a single workflow designed to optimize the molecular diagnosis of monogenic disease in families at-risk of transmitting a genetic alteration.
Methods: We used this strategy, which we designated “SEeMORE strategy” (Single-tube Electrophoresis analysis- based genotyping to detect MOnogenic diseases Rapidly and Effectively from conception to birth). It consists of a mul- tiplex PCR that simultaneously carries out linkage analysis, direct analysis, maternal contamination and parenthood testing. We analyzed samples from previously diagnosed families for PND (cystic fibrosis or Duchenne muscular dys- trophy) without, however, knowing the results.
Results: The results obtained with the SEeMORE strategy concurred with those obtained with traditional PND. In addition, this strategy has several advantages: (i) use of one or a few cells; (ii) reduction of the procedure to 1 day; and (iii) a reduction of at least 2–3-fold of the analytic cost. Conclusions: The SEeMORE strategy is effective for the molecular diagnosis of monogenic diseases, irrespec- tive of the amount of starting material and of the disease mutation, and can be used for PND and PGD
Substituent effect on carbon-13 chemical shifts of 3-(para substituted benzoyl)-5-amino-1,2,4-oxadiazoles
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