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Permafrost environments, which store large quantities of soil organic carbon, are threatened by climate change-induced thaw that would render frozen organic matter bioavailable for microorganisms leading to an increase in greenhouse gases emissions. Hence understanding the response of permafrost microbial communities to thawing is necessary to evaluate the permafrost carbon feedback to global change. Microbial diversity and activity were studied across two thaw stages (intact and degrading permafrost) at different depths in a palsa found in Northern Norway. This study investigated soil microbial community composition by Illumina Miseq sequencing of the 16S rRNA gene while bacterial, archaeal, methanogens and methanotrophs abundance was assessed by qPCR. Microbial heterotrophic activity was evaluated using enzymatic and functional metabolic assays. Microbial communities’ composition and activity were found to differ between the two thaw stages. The intact palsa (IP) presented high richness that decreased with depth while the degrading palsa (DP) exhibited less species-rich communities across depth. Relative abundance of members of the phylum Proteobacteria known to thrive in higher carbon and nutrient availability increased in the DP while members of the phylum AD3, which dominated the deepest part of the IP, almost disappeared in the DP. Bacterial, archaeal, methanogens and methanotrophs were more abundant in the thawing permafrost than in the intact palsa. The DP exhibited high and similar microbial biomass across depths while the IP showed high microbial abundance only in the topsoil layer. In addition, populations of methane-producing microorganisms were found to be strongly positively correlated to methane oxidizers abundance, suggesting a close spatial relationship between these two communities. Heterotrophic prokaryotes found in the DP displayed higher enzymatic and functional metabolic activity across depth than in the IP. Collectively, these results suggest a shift in microbial prokaryotic communities as a result of permafrost thaw characterized by less species-rich populations, by an increasing biomass of greenhouse gases-related microorganisms as well as a higher microbial activity across depth, potentially leading to greater greenhouse gases emissions that would exacerbate the positive feedbacks from permafrost carbon to climate.

permafrost thaw --- microbial diversity --- microbial activity --- palsa --- 16s rRNA --- qPCR --- mcrA --- pmoA --- Biolog --- beta-glucosidase --- climate change --- Norway --- Sciences du vivant > Microbiologie

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Technology: general issues --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Technology: general issues --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- n/a --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- n/a --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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The close relationship between food intake and health promotion is not new; it dates back to Hippocrates’s famous “let food be your medicine and medicine be your food”, which is still as timely as ever. In recent years, some scientific evidence has supported this statement, showing that dietary plant extracts, or bioactive compounds isolated therefrom, are able to prevent or slow down the progression of chronic and degenerative diseases, making them particularly interesting from a nutraceutical point of view. On the other hand, extensive chemical investigations of functional plant extracts’ constituents are needed to rationalize certain bioactivity, in terms of efficacy and safety.

Technology: general issues --- antioxidant effect --- lectins --- nanoliposomes --- purity grade --- quercetin --- trans-aconitic acid --- anthocyanins --- antioxidant activity --- bioactive compounds --- colorants --- fruit juices --- polyphenols --- wild blueberry --- antidiabetic --- cardioprotective --- functional foods --- nutraceuticals --- okra --- phytotherapy --- Jamaican cherry --- fermentation --- Lactobacillus plantarum --- antioxidant --- food nutrition improvement --- okra mucilage --- okra polysaccharides --- biopolymer --- α-amylase activity --- α-glucosidase activity --- antidiabetic activity --- biodegradable --- edible film --- release --- pectin --- sodium caseinate --- oil oxidation --- waste biomass --- coffee --- Coffea arabica --- phenolic --- free-radical scavenging --- iron chelating --- cytotoxic --- plant secondary metabolites --- antiviral activity --- food --- noroviruses --- MNV --- FCV --- yogurt --- betalains --- encapsulation --- lyophilization --- ionizing radiation --- radioprotection --- flavonoids --- plant extracts --- oxidative stress --- zebrafish embryo --- carotenoids --- Trapa bispinosa Roxb. --- polyphenol --- ellagitannin --- gallotannin --- α-glucosidase inhibitor --- advanced glycation end products (AGEs) --- antiglycation effect --- LC/UV/ESIMS analysis --- anti-diabetic --- abscisic acid --- Diabetes mellitus --- molecular docking --- phytohormones --- spray drying --- vegetable powders --- beetroot --- natural colorants --- violet betalain pigments --- bioactivity --- medicinal plants --- wild fruits --- industrial crops --- PCA --- HCA --- phenols --- TEAC --- roasting --- GAE