Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.     

Detection of potentially pathogenic Aeromonas isolates from ready‐to‐eat seafood products by PCR analysis

This study provides data on the prevalence of potentially pathogenic Aeromonas spp. in ready‐to‐eat (RTE) seafood products by evaluating the occurrence of Aeromonas spp. and the presence of virulence‐associated genes. Aeromonas spp. was detected in 57/81 (70.3%) RTE seafood samples. Specifically, Aeromonas spp. was highlighted in 19/21 (90.5%) sushi, in 18/21 (85.7%) sea salad, 11/12 (91.7%) surimi and 9/12 (75%) peeled shrimp samples. Aeromonas spp. was not observed in marinated anchovies and octopus salad samples. Then, PCRs aimed at the hlyA, aerA, alt and ast genes, encoding, respectively, haemolysin A, aerolysin, aeromonas labile temperature cytotonic enterotoxin and aeromonas stable temperature cytotonic enterotoxin, demonstrated a widespread distribution of these genes among Aeromonas isolates. The results underline the need to implement an adequate control plan performing an intensive and continuous monitoring to guarantee the human health.     

Determination of ochratoxin A in eggs and target tissues of experimentally drugged hens using HPLC–FLD

Ochratoxins are fungal secondary metabolites that may contaminate various foods and beverages. The intake of ochratoxins by humans may result in typical syndromes (nefrotoxicity, carcinogenity, teratogenicity and immunotoxicity) and has been associated with Balkan Endemic Nephropathy (BEN). In this study we evaluated the effects of accumulation of ochratoxin A throughout the chain production of eggs, by investigating the dynamics of OA accumulation in eggs placed by laying hens experimentally exposed to OA.     

Heparin conjugated silica nanoparticle synthesis

We report on a facile method towards a synthesis of novel hybrid heparin silica nanoparticles involving a modification of the Stober method. Tetrapropyl orthosilicate (TPOS) was used instead of the traditional TEOS or TMOS; by this way we could overcome the solubility problems of heparin in ethanol and exploit the good solubility of heparin in proper isopropanol–water mixtures. Aminopropyl triethoxysilane (APTS) was also used to have a good link of heparin to silica particles. SEM, DLS, FTIR and NMR proved that we did find conditions in which heparin conjugated silica particles were produced.Thermogravimetry allowed to evaluate the heparin/silica weight ratio to be 0.61. The efficiency of heparin binding to the particles was appreciated to be 35 wt.%.     

Classification of moroccan olive cultivars by linear discriminant analysis applied to ATR–FTIR spectra of endocarps

The potential of FTIR combined with chemometrics was studied to classify five Moroccan varieties of olives by analysis on the endocarps. Attenuated total reflectance (ATR) enabled the samples to be examined directly in the solid state. The spectral data were subjected to a preliminary derivative elaboration based on the Norris gap algorithm to reduce the noise and extract larger analytical information. Linear discriminant analysis (LDA) was adopted as classification method, and Principle component analysis (PCA) was employed to compress the original data set into a reduced new set of variables before LDA. The calibration set was built by using the IR data from seventy‐five samples scanned in reflectance mode, and the ranges 3000–2400 and 2300–600 cm^?1 were selected because furnishing the most useful analytical information. PCA allowed clustering the samples in five classes by using the first two principal components with an explained variance of 98.16%. Application of LDA on an external test set of twenty‐five samples enabled to classify them into five variety groups with a correct classification of 92.0%.     

Oxidative Inactivation of SARS-CoV-2 on Photoactive AgNPs@TiO2 Ceramic Tiles

The current SARS-CoV-2 pandemic causes serious public health, social, and economic issues all over the globe. Surface transmission has been claimed as a possible SARS-CoV-2 infection route, especially in heavy contaminated environmental surfaces, including hospitals and crowded public places. Herein, we studied the deactivation of SARS-CoV-2 on photoactive AgNPs@TiO₂ coated on industrial ceramic tiles under dark, UVA, and LED light irradiations. SARS-CoV-2 inactivation is effective under any light/dark conditions. The presence of AgNPs has an important key to limit the survival of SARS-CoV-2 in the dark; moreover, there is a synergistic action when TiO₂ is decorated with Ag to enhance the virus photocatalytic inactivation even under LED. The radical oxidation was confirmed as the the central mechanism behind SARS-CoV-2 damage/inactivation by ESR analysis under LED light. Therefore, photoactive AgNPs@TiO₂ ceramic tiles could be exploited to fight surface infections, especially during viral severe pandemics.