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JOURNAL ARTICLE
Emeline Gernez, Estelle Roland, Claire-Marie Dhaenens, Gilles Renom, Karine Mention
Newborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias (isovaleric and glutaric type I acidurias), and disorders of fatty acid metabolism (MCADD, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and primary carnitine deficiency)...
April 19, 2024: Annales de Biologie Clinique
#2
JOURNAL ARTICLE
Caroline M Nievergelt, Adam X Maihofer, Elizabeth G Atkinson, Chia-Yen Chen, Karmel W Choi, Jonathan R I Coleman, Nikolaos P Daskalakis, Laramie E Duncan, Renato Polimanti, Cindy Aaronson, Ananda B Amstadter, Soren B Andersen, Ole A Andreassen, Paul A Arbisi, Allison E Ashley-Koch, S Bryn Austin, Esmina Avdibegoviç, Dragan Babić, Silviu-Alin Bacanu, Dewleen G Baker, Anthony Batzler, Jean C Beckham, Sintia Belangero, Corina Benjet, Carisa Bergner, Linda M Bierer, Joanna M Biernacka, Laura J Bierut, Jonathan I Bisson, Marco P Boks, Elizabeth A Bolger, Amber Brandolino, Gerome Breen, Rodrigo Affonseca Bressan, Richard A Bryant, Angela C Bustamante, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, Anders D Børglum, Sigrid Børte, Leah Cahn, Joseph R Calabrese, Jose Miguel Caldas-de-Almeida, Chris Chatzinakos, Sheraz Cheema, Sean A P Clouston, Lucía Colodro-Conde, Brandon J Coombes, Carlos S Cruz-Fuentes, Anders M Dale, Shareefa Dalvie, Lea K Davis, Jürgen Deckert, Douglas L Delahanty, Michelle F Dennis, Frank Desarnaud, Christopher P DiPietro, Seth G Disner, Anna R Docherty, Katharina Domschke, Grete Dyb, Alma Džubur Kulenović, Howard J Edenberg, Alexandra Evans, Chiara Fabbri, Negar Fani, Lindsay A Farrer, Adriana Feder, Norah C Feeny, Janine D Flory, David Forbes, Carol E Franz, Sandro Galea, Melanie E Garrett, Bizu Gelaye, Joel Gelernter, Elbert Geuze, Charles F Gillespie, Slavina B Goleva, Scott D Gordon, Aferdita Goçi, Lana Ruvolo Grasser, Camila Guindalini, Magali Haas, Saskia Hagenaars, Michael A Hauser, Andrew C Heath, Sian M J Hemmings, Victor Hesselbrock, Ian B Hickie, Kelleigh Hogan, David Michael Hougaard, Hailiang Huang, Laura M Huckins, Kristian Hveem, Miro Jakovljević, Arash Javanbakht, Gregory D Jenkins, Jessica Johnson, Ian Jones, Tanja Jovanovic, Karen-Inge Karstoft, Milissa L Kaufman, James L Kennedy, Ronald C Kessler, Alaptagin Khan, Nathan A Kimbrel, Anthony P King, Nastassja Koen, Roman Kotov, Henry R Kranzler, Kristi Krebs, William S Kremen, Pei-Fen Kuan, Bruce R Lawford, Lauren A M Lebois, Kelli Lehto, Daniel F Levey, Catrin Lewis, Israel Liberzon, Sarah D Linnstaedt, Mark W Logue, Adriana Lori, Yi Lu, Benjamin J Luft, Michelle K Lupton, Jurjen J Luykx, Iouri Makotkine, Jessica L Maples-Keller, Shelby Marchese, Charles Marmar, Nicholas G Martin, Gabriela A Martínez-Levy, Kerrie McAloney, Alexander McFarlane, Katie A McLaughlin, Samuel A McLean, Sarah E Medland, Divya Mehta, Jacquelyn Meyers, Vasiliki Michopoulos, Elizabeth A Mikita, Lili Milani, William Milberg, Mark W Miller, Rajendra A Morey, Charles Phillip Morris, Ole Mors, Preben Bo Mortensen, Mary S Mufford, Elliot C Nelson, Merete Nordentoft, Sonya B Norman, Nicole R Nugent, Meaghan O'Donnell, Holly K Orcutt, Pedro M Pan, Matthew S Panizzon, Gita A Pathak, Edward S Peters, Alan L Peterson, Matthew Peverill, Robert H Pietrzak, Melissa A Polusny, Bernice Porjesz, Abigail Powers, Xue-Jun Qin, Andrew Ratanatharathorn, Victoria B Risbrough, Andrea L Roberts, Alex O Rothbaum, Barbara O Rothbaum, Peter Roy-Byrne, Kenneth J Ruggiero, Ariane Rung, Heiko Runz, Bart P F Rutten, Stacey Saenz de Viteri, Giovanni Abrahão Salum, Laura Sampson, Sixto E Sanchez, Marcos Santoro, Carina Seah, Soraya Seedat, Julia S Seng, Andrey Shabalin, Christina M Sheerin, Derrick Silove, Alicia K Smith, Jordan W Smoller, Scott R Sponheim, Dan J Stein, Synne Stensland, Jennifer S Stevens, Jennifer A Sumner, Martin H Teicher, Wesley K Thompson, Arun K Tiwari, Edward Trapido, Monica Uddin, Robert J Ursano, Unnur Valdimarsdóttir, Miranda Van Hooff, Eric Vermetten, Christiaan H Vinkers, Joanne Voisey, Yunpeng Wang, Zhewu Wang, Monika Waszczuk, Heike Weber, Frank R Wendt, Thomas Werge, Michelle A Williams, Douglas E Williamson, Bendik S Winsvold, Sherry Winternitz, Christiane Wolf, Erika J Wolf, Yan Xia, Ying Xiong, Rachel Yehuda, Keith A Young, Ross McD Young, Clement C Zai, Gwyneth C Zai, Mark Zervas, Hongyu Zhao, Lori A Zoellner, John-Anker Zwart, Terri deRoon-Cassini, Sanne J H van Rooij, Leigh L van den Heuvel, Murray B Stein, Kerry J Ressler, Karestan C Koenen
Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association studies across 1,222,882 individuals of European ancestry (137,136 cases) and 58,051 admixed individuals with African and Native American ancestry (13,624 cases). We identified 95 genome-wide significant loci (80 new)...
April 18, 2024: Nature Genetics
#3
JOURNAL ARTICLE
Susan L McEvoy, Patrick G S Grady, Nicole Pauloski, Rachel J O'Neill, Jill L Wegrzyn
DNA methylation is critical to the regulation of transposable elements and gene expression and can play an important role in the adaptation of stress response mechanisms in plants. Traditional methods of methylation quantification rely on bisulfite conversion that can compromise accuracy. Recent advances in long-read sequencing technologies allow for methylation detection in real time. The associated algorithms that interpret these modifications have evolved from strictly statistical approaches to Hidden Markov Models and, recently, deep learning approaches...
April 2024: Evolutionary Applications
#4
JOURNAL ARTICLE
Hybrid bio-nanoporous peptide loaded-polymer platforms with anticancer and antibacterial activities.
Madalina Icriverzi, Paula Ecaterina Florian, Anca Bonciu, Luminita Nicoleta Dumitrescu, Antoniu Moldovan, Diana Pelinescu, Robertina Ionescu, Ionela Avram, Cristian V A Munteanu, Livia Elena Sima, Valentina Dinca, Laurentiu Rusen, Anca Roseanu
In this study, hybrid bio-nanoporous peptides loaded onto poly( N -isopropylacrylamide- co -butylacrylate) (pNIPAM- co -BA) coatings were designed and obtained via matrix-assisted pulsed laser evaporation (MAPLE) technique. The incorporation of cationic peptides magainin (MG) and melittin (Mel) and their combination was tailored to target synergistic anticancer and antibacterial activities with low toxicity on normal mammalian cells. Atomic force microscopy, scanning electron microscopy, X-ray photoelectron spectroscopy, Fourier transform infrared spectroscopy as well as contact angle and surface energy measurements revealed the successful and functional incorporation of both the peptides within porous polymeric nanolayers as well as surface modifications ( i...
April 16, 2024: Nanoscale advances
#5
REVIEW
Simona Ferraro, Anilkumar Dave, Cristina Cereda, Elvira Verduci, Santica Marcovina, Gianvincenzo Zuccotti
Travel to space has overcome unprecedent technological challenges and this has resulted in transfer of these technological results on Earth to better our lives. Health technology, medical devices, and research advancements in human biology are the first beneficiaries of this transfer. The real breakthrough came with the International Space Station, which endorsed multidisciplinary international scientific collaborations and boosted the research on pathophysiological adaptation of astronauts to life on space...
April 13, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
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JOURNAL ARTICLE
Heta Mattila, Sergey Khorobrykh, Esa Tyystjärvi
Autumn senescence is characterised by spatial and temporal heterogeneity. We show that senescing birch (Betula spp.) leaves had lower PSII activity (probed by the F V /F M chlorophyll a fluorescence parameter) in late autumn than in early autumn. We confirmed that PSII repair slows down with decreasing temperature, while rates of photodamage and recovery, measured under laboratory conditions at 20°C, were similar in these leaves. We propose that low temperatures during late autumn hinder repair and lead to accumulation of non-functional PSII units in senescing leaves...
April 2024: Functional Plant Biology: FPB
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JOURNAL ARTICLE
Bethanie Maples, Merve Cerit, Aditya Vishwanath, Roy Pea
Mental health is a crisis for learners globally, and digital support is increasingly seen as a critical resource. Concurrently, Intelligent Social Agents receive exponentially more engagement than other conversational systems, but their use in digital therapy provision is nascent. A survey of 1006 student users of the Intelligent Social Agent, Replika, investigated participants' loneliness, perceived social support, use patterns, and beliefs about Replika. We found participants were more lonely than typical student populations but still perceived high social support...
January 22, 2024: Npj Ment Health Res
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JOURNAL ARTICLE
Kayla Warner, Nancy Falxa Sonti, Elizabeth M Cook, Richard A Hallett, Lucy R Hutyra, Andrew B Reinmann
Tree growth is a key mechanism driving carbon sequestration in forest ecosystems. Environmental conditions are important regulators of tree growth that can vary considerably between nearby urban and rural forests. For example, trees growing in cities often experience hotter and drier conditions than their rural counterparts while also being exposed to higher levels of light, pollution, and nutrient inputs. However, the extent to which these intrinsic differences in the growing conditions of trees in urban versus rural forests influence tree growth response to climate is not well known...
April 11, 2024: Ecological Applications
#9
JOURNAL ARTICLE
Marcin Kamiński, Michał Strąkowski
The main issue in this work is to study the limit functions necessary for the reliability assessment of structural steel with the use of the relative entropy apparatus. This will be done using a few different mathematical theories relevant to this relative entropy, namely those proposed by Bhattacharyya, Kullback-Leibler, Jeffreys, and Hellinger. Probabilistic analysis in the presence of uncertainty in material characteristics will be delivered using three different numerical strategies-Monte Carlo simulation, the stochastic perturbation method, as well as the semi-analytical approach...
February 3, 2024: Materials
#10
JOURNAL ARTICLE
Milica Veljković, Katarina Banjanac, Ana Milivojević, Marija Ćorović, Milica Simović, Dejan Bezbradica
Maple syrup, a popular natural sweetener has a high content of sucrose, whose consumption is linked to different health issues such as obesity and diabetes. Hence, within this paper, the conversion of sucrose to prebiotics (fructo-oligosaccharides, FOS) was proposed as a promising approach to obtaining a healthier, value-added product. Enzymatic conversion was optimized with respect to key experimental factors, and thereafter derived immobilized preparation of fructosyltransferase (FTase) from Pectinex® Ultra SP-L (FTase-epoxy Purolite, 255 IU/g support) was successfully utilized to produce novel functional product in ten consecutive reaction cycles...
April 2, 2024: Food Chemistry
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JOURNAL ARTICLE
Claude Bragard, Paula Baptista, Elisavet Chatzivassiliou, Francesco Di Serio, Paolo Gonthier, Josep Anton Jaques Miret, Annemarie Fejer Justesen, Christer Sven Magnusson, Panagiotis Milonas, Juan A Navas-Cortes, Stephen Parnell, Roel Potting, Philippe Lucien Reignault, Emilio Stefani, Hans-Hermann Thulke, Wopke Van der Werf, Antonio Vicent Civera, Jonathan Yuen, Lucia Zappalà, Jean-Claude Grégoire, Chris Malumphy, Antigoni Akrivou, Virag Kertesz, Dimitrios Papachristos, Oresteia Sfyra, Alan MacLeod
The EFSA Panel on Plant Health performed a pest categorisation of Eulecanium giganteum (Hemiptera: Coccidae), the giant eulecanium scale, for the territory of the European Union, following the commodity risk assessment of Acer palmatum plants from China, in which E. giganteum came to attention as a pest of possible concern. The pest is only known to be present in Asia, where it has been reported from China, India, Iran, Japan and eastern Russia (Primorsky Krai). The pest has not been reported within the EU...
April 2024: EFSA journal
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REVIEW
Alayna Carrandi, Yanan Hu, Katherine McGill, Sarah Wayland, Shae Karger, Myfanwy Maple
BACKGROUND: The involvement of people with lived experience (LEX) workers in the development, design, and delivery of integrated health services seeks to improve service user engagement and health outcomes and reduce healthcare gaps. Yet, LEX workers report feeling undervalued and having limited influence on service delivery. There is a need for systematic improvements in how LEX workforces are engaged and supported to ensure the LEX workforce can fully contribute to integrated systems of care...
April 2024: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
#13
Drashya Sharma, Kira A Kohlbach, Robert Maples, J David Farrar
UNLABELLED: Adaptive immune cells are regulated by circadian rhythms (CR) under both steady state conditions and during responses to infection. Cytolytic CD8 + T cells display variable responses to infection depending upon the time of day of exposure. However, the neuronal signals that entrain these cyclic behaviors remain unknown. Immune cells express a variety of neurotransmitter receptors including nicotinic, glucocorticoid, and adrenergic receptors. Here, we demonstrate that the β2-adrenergic receptor (ADRB2) regulates the periodic oscillation of select core clock genes, such as Per2 and Bmal1 , and selective loss of the Adrb2 gene dramatically perturbs the normal diurnal oscillation of clock gene expression in CD8 + T cells...
March 14, 2024: bioRxiv
#14
JOURNAL ARTICLE
Aditi Nagardeolekar, Prajakta Dongre, Biljana M Bujanovic
Lignin-poly(ethylene)glycol diglycidyl ether hydrogels were synthesized from lignin fractions readily extracted during the hot-water treatment of angiosperms: hardwoods, sugar maple and energy-crop willow, monocotyledons, grasses, miscanthus and agriculture residues, and wheat straw. These lignins represent a broad range of chemical structures and properties as a comparative analysis of their suitability to produce the hydrogels as a novel carrier of chaga-silver nanoparticles. The formation of hydrogels was assessed via attenuated total reflectance Fourier-transformed infrared spectroscopy...
March 14, 2024: Polymers
#15
JOURNAL ARTICLE
Dagmar Faktorová, Mariana Domnica Stanciu, Michal Krbata, Adriana Savin, Marcel Kohutiar, Milan Chlada, Silviu Marian Năstac
The objective of the study was to analyze the influence of coating treatments on sound propagation speeds in thin boards, along the longitudinal and radial directions of resonance wood. The samples studied were thin boards made of spruce and maple wood with dimensions of 240 mm × 80 mm × 4 mm (length × width × thickness) subjected to different coating treatments (oil-based varnish and alcohol varnish) as well as unvarnished samples, exposed to radiation UV, and specimens treated in the saline fog...
March 9, 2024: Polymers
#16
JOURNAL ARTICLE
Joey Chamard, Maria Faticov, F Guillaume Blanchet, Pierre-Luc Chagnon, Isabelle Laforest-Lapointe
Root-associated microbes can alleviate plant abiotic stresses, thus potentially supporting adaptation to a changing climate or to novel environments during range expansion. While climate change is extending plant species fundamental niches northward, the distribution and colonization of mutualists (e.g., arbuscular mycorrhizal fungi) and pathogens may constrain plant growth and regeneration. Yet, the degree to which biotic and abiotic factors impact plant performance and associated microbial communities at the edge of their distribution remains unclear...
March 22, 2024: Communications Biology
#17
JOURNAL ARTICLE
Nushrat Yeasmen, Valérie Orsat
Sugar maple leaves (SML), usually considered residue plant biomass and discarded accordingly, contain a considerable amount of phenolic antioxidants. In this study, SML phenolics were extracted employing both advanced (homogenization pretreated ultrasound-assisted extraction) and conventional (maceration) methods followed by their encapsulation by freeze drying and spray drying using a combination of maltodextrin and gum arabic as coating agents. Detailed physicochemical analyses revealed that the encapsulated microparticles had high solubility (>90 %) and encapsulation efficiency (>95 %), acceptable thermal stability with good handling properties...
April 2024: Food Research International
#18
JOURNAL ARTICLE
Jin-Tae Kim, Hong-Joon Yoon, Shyuan Cheng, Fei Liu, Soohyeon Kang, Shashwot Paudel, Donghwi Cho, Haiwen Luan, Minkyu Lee, Gooyoon Jeong, Jaehong Park, Yu-Ting Huang, Su Eon Lee, Min Cho, Geonhee Lee, Mengdi Han, Bong Hoon Kim, Jinhui Yan, Yoonseok Park, Sunghwan Jung, Leonardo P Chamorro, John A Rogers
Recent advances in passive flying systems inspired by wind-dispersed seeds contribute to increasing interest in their use for remote sensing applications across large spatial domains in the Lagrangian frame of reference. These concepts create possibilities for developing and studying structures with performance characteristics and operating mechanisms that lie beyond those found in nature. Here, we demonstrate a hybrid flier system, fabricated through a process of controlled buckling, to yield unusual geometries optimized for flight...
March 2024: PNAS Nexus
#19
JOURNAL ARTICLE
Yazan Hassona, Dua'a Alqaisi, Yara Flaifl, Asma Alkilani
BACKGROUND AND OBJECTIVES: The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature. METHOD: A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD...
March 21, 2024: BMC Oral Health
#20
JOURNAL ARTICLE
Emily Maple, Mark Kebbell
A self-report instrument was created to measure stress, attitudes, and performance of domestic and family violence (DFV) first responders in an Australian state. DFV-related stress negatively impacted officers' attitudes and self-assessed performance. Higher DFV stress was predicted by the frequency and severity of DFV incidents, and the absence of lived experience. Negative attitudes were predicted by a shorter length of service and lower severity, and poorer performance by a longer length of service and lower perceived social support...
March 20, 2024: Violence Against Women
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