A SspI PCR-RFLP detecting a silent allele at the goat CSN2 locus

The comparison between the cDNA sequence obtained and the published sequences of the goat CSN2 alleles showed a new single nucleotide polymorphism (SNP) (transition C-T) at the 180th nucleotide of the ninth exon. This mutation, which took place at 124 nt from the polyadenylation site, identifies a silent allele at the CSN2 locus named CSN2 A1. Since the 9th exon C-T transition creates a SspI endonuclease restriction site, the SspI digestion of a PCR product of 360 bp spanning the 9th exon and flanking regions, would allow carriers for the presence of thymine to be identified. The allelic frequency of the CSN2 A1 allele, determined in 170 goats belonging to an undefined genetic type reared in the province of Naples (Italy), was 0.23 It has been observed that the sequences in the 3’ untranslated regions (UTR), proximal to the polyadenylation site, can affect the mechanism of mRNA deadenylation and degradation. Therefore, it is reasonable to hypothesize that the C-T transition might, directly or indirectly, influence the stability of the mRNA and, consequently, the amount of protein produced

Begleitung schwer kranker und sterbender Kinder: Empfehlungen für die Praxis

Zusammenfassung: Der Tod eines Kindes ist bei uns ein seltenes, aber umso erschütternderes Ereignis. Die Begleitung sterbender Kinder ist nur mit Einbezug ihres sozialen Umfeldes möglich und erfordert entwicklungspsychologische Kenntnisse. Der Text fasst Aspekte der Entstehung des kindlichen Todeskonzeptes zusammen und beschreibt die psychischen Reaktionen schwer kranker Kinder und Jugendlicher. Abschließend geben die Autoren, ausgehend von ihren praktischen Erfahrungen, Empfehlungen und Orientierungshilfen für die Sterbebegleitun

Three–way compositional data: a multi–stage trilinear decomposition algorithm

The CANDECOMP/PARAFAC model is an extension of bilinear PCA and has been designed to model three-way data by preserving their multidimensional configuration. The Alternating Least Squares (ALS) procedure is the preferred estimating algorithm for this model because it guarantees stable results. It can, however, be slow at converging and sensitive to collinearity and over-factoring. Dealing with these issues is even more pressing when data are compositional and thus collinear by definition. In this talk the solution proposed is based on a multistage approach. Here parameters are optimized with procedures that work better for collinearity and over-factoring, namely ATLD and SWATLD, and then results are refined with ALS

Characterization of two new alleles at the goat CSN1S2 locus.

Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F) and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is characterized by a G --> A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of the mature protein from Val to Ile. The CSN1S2(D) allele, apparently associated with a decreased synthesis of alpha s2-casein, is characterized by a 106-bp deletion, involving the last 11 bp of the exon 11 and the first 95 bp of the following intron. Methods (PCR-RFLP and PCR) for identification of carriers of these alleles have been developed

Technical and health governance aspects of the External Quality Assessment Scheme for the SARS-CoV-2 molecular tests: Institutional experience performed in all clinical laboratories of a Regional Health Service

Objectives: Since December 2019, the worldwide public health has been threatened by a severe acute respiratory syndrome caused by Coronavirus-2. From the beginning, a turning point has been the identification of new cases of infection, in order to minimize the virus spreading among the population. For this reason, it was necessary introducing a panel of tests able to identify positive cases, which became crucial for all countries. Methods: As a Regional Reference Centre, the CRQ Laboratory (Regional Laboratory for the Quality Control) developed and conducted an External Quality Assessment (EQA) panel of assay, so as to evaluate the quality of real-time reverse transcription polymerase chain reaction (PCR), which were used by 62 Sicilian laboratories, previously authorized to issue certificates for the COVID-19 diagnosis, on behalf of the Public Health Service. Results: The qualitative performance test was based on pooled samples with different viral loads of SARS-CoV-2 or human Coronavirus OC43. 75% of the participating laboratories tested all core samples correctly, while the remaining 25% interpreted incorrectly the EQA exercise samples matching negatively the standards required. Conclusions: Subsequent inspection visits confirmed the issue of incorrect positive and negative certifications for COVID-19 by private and public laboratories, despite the possession of the authorization requirements currently provided for by current regulations, with a significant impact on the SSR

Development of a surrogate model of an amine scrubbing digital twin using machine learning methods

Advancements in the process industry require building more complex simulations and performing computationally intensive operations like optimization. To overcome the numerical limit of conventional process simulations a surrogate model is a viable strategy. In this work, a surrogate model of an industrial amine scrubbing digital twin has been developed. The surrogate model has been built based on the process simulation created in Aspen HYSYS and validated as a digital twin against real process data collected during a steady-state operation. The surrogate relies on an accurate Design of Experiments procedure. In this case, the Latin-Hypercube method has been chosen and several nested domains have been defined in ranges around the nominal steady state operative condition. Several machine learning models have been trained using cross-validation, and the most accurate has been selected to predict each target. The resulting surrogate model showed a satisfactory performance, given the data available