Avoiding the Technological Imperative: Criteria for Genetic Screening Programs
Abstract
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Avoiding the Technological Imperative: Criteria for Genetic Screening Programsby
Abstract
Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...] 2346 11666 |
Carrier Screening for the Haemoglobinopathies: Past, Present and Futureby
Abstract
Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...] 2581 21725 |
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An Introduction to Molecular Anthropology. By Mark Stoneking. Wiley-Blackwell: Hoboken, NJ, USA, 2017; $129.95; ISBN: 978-1-118-06162-6.Abstract
Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology 1920 9104 |
Mechanisms of Origin and Clinical Effects of Multiple Small Supernumerary Marker Chromosomes, Each Derived from a Different ChromosomeAbstract
Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compiled from the literature all 78 cases with multiple sSMCs per cell in which the chromosomal origin of the sSMCs has been identified. The number of sSMCs varies from 2 to 7; 64% have 2 sSMCs, 14% have 3 sSMCs, and the freq [...] 2150 13435 |
Stabilization Strategies of β-glucosidases Produced by Yeasts Rhodotorula oryzicola and Saccharomyces cerevisiaeAbstract
The rising demand for enzymes with improved properties has driven continuous developments in enzyme technology, including enzymatic formulation. Enzyme formulation primarily aims to minimize losses in enzymatic activity during transport, storage and use. One strategy to mitigate enzyme inactivation is to include stabilizing agents or metal ions that preserve enzyme structure and activity. Thus, in this work, we evaluated stabilization strategies for β-glucosidase produced by the yeasts Rhodotorula oryzicola and Sac [...] 98 317 |
Enhanced Degradation of Methylene Blue and Methyl Orange Dyes Using Fe3O4@N-MWCNT as a Peroxymonosulfate ActivatorAbstract
Peroxymonosulfate decomposition is crucial for environmental remediation, especially in degrading organic pollutants. Peroxymonosulfate can be oxidized by transition metals, generating hydroxyl and sulfate radicals that degrade pollutants. In this study, a heterogeneous catalyst (Fe3O4@N-MWCNT, a composite of Fe3O4 with nitrogen-doped multi-walled carbon nanotubes) was prepared, characterized (FT-IR, TEM, XRD, DSC), and used as a peroxymonosulfate activator for the degradation of Methylene Blue and Methyl Orange dy [...] 370 990 |
Pyrolysis of Discarded Chewing Gum for Acetic Acid RecoveryAbstract
Chewing gum, typically discarded indiscriminately, is a significant source of urban solid waste with waste that persist for long period. When in contact with notoriously recyclable materials, it can hinder their recycling processes due to its high post-consumer adhesion, leaving only the non-soluble phase. This gum base is commonly composed of polyvinyl acetate (PVAc). In this context, considering what is done for the recycling of other polymers, the pyrolysis of discarded chewing gum was conducted through a series [...] 672 1550 |
Novel Microporous Iron(III) Oxide and Silver Oxide Chromolaena odorata Leaf Biochar Nanocomposite for the Treatment of Well Waterby
Abstract
In this study, iron(III) oxide-Chromolaena odorata leaf biochar nanocomposite (Fe2O3-COLBN) and silver oxide-Chromolaena odorata leaf biochar nanocomposite (Ag2O-COLBN) were prepared and used for the treatment of well water for household use. The fabricated nanocomposites and the pyrolyzed Chromolena odorata leaf biochar were characterized using UV-Vis spectroscopy, Scanning Electron Microscopy coupled with Energy Dispersive X-ray spectroscopy (SEM/EDX), X-ray Diffraction (XRD), Fourier Transform Infrared Spectrosc [...] 547 1533 |
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