An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome by Tess Levy, J. Lloyd Holder, Jr., Joseph P. Horrigan, Michael F. Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M. Siper, Alexander Kolevzon

“…AMO-01 was well tolerated, with no serious adverse events (AEs) reported. All AEs were mild or moderate in severity. Seizures were reduced by at least 25% compared to baseline at each follow-up (weeks 1, 2, and 4). …”
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The dilemma of X-linked agammaglobulinemia carriers by Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD

“…Results: Data on 53 adults with XLA, 52 mothers, and 33 sisters were collected. All XLA sisters received genetic counseling. Forty percent of the sisters chose to undergo carrier status determination, and 60% of them chose invasive prenatal testing. …”
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Functional heterogeneity of mesenchymal stem cells and their therapeutic potential in the K18-hACE2 mouse model of SARS-CoV-2 infection by Kátia Nunes da Silva, Fernanda Martins Marim, Gisele Vieira Rocha, Zaquer Suzana Munhoz Costa-Ferro, Luciana Souza de Aragão França, Carolina Kymie Vasques Nonaka, Bruno Diaz Paredes, Erik Aranha Rossi, Erick Correia Loiola, Corynne Stephanie Ahouefa Adanho, Rachel Santana Cunha, Mayck Medeiros Amaral da Silva, Fernanda Ferreira Cruz, Vivian Vasconcelos Costa, Dalila Lucíola Zanette, Clarissa Araújo Gurgel Rocha, Renato Santana Aguiar, Patricia Rieken Macedo Rocco, Bruno Solano de Freitas Souza

“…In co-culture assays with lymphocytes activated with anti-CD3/CD28 beads, all MSC lines demonstrated the ability to inhibit TNF-α, to induce TGF-β and Indoleamine 2,3-dioxygenase (IDO), with varying degrees of inhibition observed for IFN-γ and IL-6, or induction of IL-10 expression. …”
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Bisphenol S exposure interrupted human embryonic stem cell derived cardiomyocytes differentiation through ER-NF-κB/ERK signaling pathway by Yongru Zhou, Lin Tian, Liang Wang, Wenjing Wu, Baofang Liang, Wei Xiong, Lishi Zhang, Xiaomeng Li, Jinyao Chen

“…The benchmark dose lower confidence limit (BMDL) of the relative expression of cTnT mRNA exposed by BPS during DP3 was the lowest among all the BMDLs of a good fit, with BMDL5 of 1.96 × 10−2 µg/mL, which is lower than the current reported exposure levels of BPS in maternal serum (0.03–0.07 ng/mL) and maternal umbilical cord serum (0.03–0.12 ng/mL).…”
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Features of expression of immunohistochemical markers in local and generalized clear cell kidney cancer by E. M. Frantsiyants, A. N. Shevchenko, E. A. Dzhenkova, N. S. Karnaukhov, T. A. Gudtskova, A. A. Breus, E. V. Filatova, D. A. Shvyrev

“…The results were expressed as a percentage-the proportion of stained cells in relation to all tumor cells in the field of vision. Parametric methods of statistics were used for statistical processing of the results. …”
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Effect of gender on the ocular surface after trabeculectomy by A.V. Antonova, V.P. Nikolaenko, V.V. Brzheskiy, A.Ya. Vuks

“…Despite clear postoperative improvement, women are significantly inferior to men in this parameter at all study control points. TBUT in both men and women increases significantly during the first 6 months postoperatively, and over the next 1.5 years TBUT stabilizes at the achieved level. …”
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A non-randomised open-label exploratory ‘window of opportunity’ study of TG02 treatment in patients with locally advanced primary and recurrent RAS mutant colorectal cancer by Sara Roth, Kasmira Claire Wilson, Robert George Ramsay, Catherine Mitchell, Shienny Sampurno, Toan Duc Pham, Joseph Cherng Huei Kong, Stephen Q. Wong, Alexander Graham Heriot, Sanjeev Deva, Matthew Burge, Cecilie Sverdrup, Anne-Sophie Moller, Lukasz Kuryk, Jon Amund Eriksen, Magnus Jaderberg, John Raymond Zalcberg, Michael Michael

“…Three patients experienced a total of 16 treatment-related adverse events; all grade 1. Four of the 6 patients (66.7 %) had at least one vaccine-induced TG02 immune response. …”
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Polimorfisme Gen Apolipoprotein E Pada Penderita Sindrom Down Trisomi 21 by Malinda Meinapuri

“…<br />Abstract<br />Backgrounds :Down syndrome is an abnormal chromosomal condition, characterized by the presence of all (trisomy 21) or part (such as due to translocations) of a third copy of chromosome 21. …”
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Integrative analyses of morpho-physiological, biochemical, and transcriptomic reveal the seedling growth response of Pinus yunnanensis to nitrogen and phosphorus fertilization by Junfei Xu, Junfei Xu, Xiyan Li, Shi Chen, Shi Chen, Lin Chen, Lin Chen, Junrong Tang, Junrong Tang, Peizhen Chen, Peizhen Chen, Nianhui Cai, Nianhui Cai, Yulan Xu, Yulan Xu

“…Growth in height and basal diameter increased and showed an approximate tendency in all treatments. The maximum biomass accumulation was observed at 480 d after treatment in roots of T5 (14.714 g) (application N 0.4 g·per−1 and P 3 g·per−1), stems of T5 (12.654 g), leaves of T9 (24.261 g) (application N 0.8 g·per−1 and P 6 g·per−1), aboveground parts of T9 (35.402 g) and individuals of T5 (49 g). …”
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Lesion Location and Possible Etiology of Acute Unilateral Vestibulopathy by Zhang M, Wang J, Xue S, Liu S, Li K, Zhao T, Feng Y, Sui R, Yang B, Yang X

“…About 57.1% (12/21) of the patients showed abnormal vHIT (including reduced gain in horizontal canal (HC) in 14.3%, anterior canal (AC) in 4.8%, both the AC and HC in 19%, both the HC and posterior canal (PC) in 14.3%, and all three canals in 9.5% of cases). Probable entire vestibular nerve damage was found in 38.1% of the patients, only 9.5% of the patients followed the innervation pattern of the entire vestibular nerve, these patients had abnormal vHIT and VEMP results, and were considered to have definite entire vestibular nerve damage. …”
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Effect of different 1-methylcyclopropene formulations and dosing on the ripening profile of Tommy Atkins mango fruits by Geoffrey Chomba, Jane Ambuko, Cecilia Onyango, John Robert Ouko

“…SmartFresh™–SmartTabs™ was applied at 0.5, 1.0, and 2.0 ppm concentrations for 12hrs and 24hrs while SmartFresh™–Inbox Sachet was applied at 0.5, 1.0, 2.0, and 4.0 ppm concentrations for 12hrs only. All treatment combinations were ripened at ambient conditions (25±3°C; 60±5% relative humidity). …”
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Functional Improvement Trajectories After Surgery (FIT After Surgery) study: protocol for a multicentre prospective cohort study to evaluate significant new disability after major... by E Jacobsohn, Duminda N Wijeysundera, Gerald Lebovic, M Davis, Martine T E Puts, Shabbir M H Alibhai, Karim S Ladha, C Wong, Daniel I McIsaac, C Hanley, T Barnes, G Lorello, N Siddiqui, P Serrano, Tyler R Chesney, S Choi, J Van Vlymen, D Sussman, D Macdonald, P Jüni, Emily Hladkowicz, C David Mazer, M Bosch, CD Mazer, A Jerath, J Pazmino-Canizares, E Kennedy, R Spence, V Lyon, Alice C Wei, Julian F Daza, Sahar Ehtesham, Janet M van Vlymen, DN Wijeysundera, KS Ladha, JF Daza, G Mattina, E Hladkowicz, M Tessier, S Ehtesham, S Nnorom, SMH Alibhai, M Puts, G Lebovic, TR Chesney, AC Wei, S Drozdz, M Louridas, RH Breau, M Lalu, S Abdellatif, S Gagne, E Duceppe, K Zarnke, D Dumerton, M Karizhenskaia, H El Beheiry, F Bonazza, A Zahavich, M Thorleifson, S L Russell, H Bagry, SY MacDonell, J Dale-Gandar, L Kaustov, A Fleet, E Al Azazi, M Parotto, S A McCluskey, H Poonawala, D Dillane, Di McIsaac, S Avramescu, S Shabeen

“…We will use multivariable logistic regression models to determine the association of preoperative characteristics and surgery type with outcomes, joint modelling to characterise longitudinal time trends in WHODAS scores over 12 months after surgery, and longitudinal latent class mixture models to identify clusters following similar trajectories of disability.Ethics and dissemination The FIT After Surgery study has received research ethics board approval at all sites. Recruitment began in December 2019 but was placed on hold in March 2020 because of the COVID-19 pandemic. …”
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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil by Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute

“…Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases. …”
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Food insecurity and the risk of HIV acquisition: findings from population-based surveys in six sub-Saharan African countries (2016–2017) by Danielle Barradas, Nicholus Mutenda, Hetal Patel, Avi J Hakim, Lloyd Mulenga, Sally Findley, Andrea Low, George Rutherford, Sarah Ayton, Elizabeth Gummerson, Amee Schwitters, Rogerio Bonifacio, Mekleet Teferi, James Juma, Claudia Ahpoe, Choice Ginindza, Samuel Biraro, Karam Sachathep, Ahmed Saadani Hassani, Willford Kirungi, Keisha Jackson, Leah Goeke, Neena Philips, Jennifer Ward, Steven Hong

“…SFI was also associated with transactional sex (aRR 1.28, 95% CI 1.17 to 1.41), a history of forced sex (aRR 1.36, 95% CI 1.11 to 1.66) and condom-less sex with a partner of unknown or positive HIV status (aRR 1.08, 95% CI 1.02 to 1.14) in all women, and intergenerational sex (partner ≥10 years older) in women aged 15–24 years (aRR 1.23, 95% CI 1.03 to 1.46). …”
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Regional antimicrobial resistance gene flow among the One Health sectors in China by Yuqing Feng, Xin Lu, Jiayong Zhao, Hongmin Li, Jialiang Xu, Zhenpeng Li, Mengyu Wang, Yao Peng, Tian Tian, Gailing Yuan, Yuan Zhang, Jiaqi Liu, Meihong Zhang, A La Teng Zhu La, Geruo Qu, Yujiao Mu, Wanshen Guo, Yongning Wu, Yuyu Zhang, Dexiang Wang, Yongfei Hu, Biao Kan

“…Lifestyle, dietary habits, and occupational exposure are all correlated with ARG dissemination and flies and food are important potential sources of ARGs to humans. …”
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Whole-genome analysis of a ST45-SCCmec IVa (2B)-t116 methicillin-resistant Staphylococcus aureus strain isolated from the sputum of a 5-year-old child with pneumonia by Lin Huang, Rui Guo, Jingxian Lin, Xiaowei Li, Zhicong Li, Limei Zhang, Wenting Li, Rui Xue, Cheng Zhang, Xiaosan Feng, Xiaobin Li, Xiaobin Li

“…Notably, the three prophages harbored by the chromosome of SA2107 all carried virulence genes.ConclusionThus far, only three complete genomes available for ST45-SCCmec IVa (2B)-t116 strain from United States, Germany, and Australia, respectively. …”
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Alimenter la ville de Lyon en eau : les galeries de captage antiques sous les collines de Fourvière et de la Croix-Rousse by Emmanuel Bernot

“…These different arrangements are found without distinction in all periods. Most of the sedimentary formations forming the Fourvière and Croix-Rousse hills are conducive to water circulation and the aquifer levels are therefore concentrated in contact with impermeable or low-permeability formations, such as basalt and clay. …”
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Preindustrial-to-present-day changes in atmospheric carbon monoxide: agreement and gaps between ice archives and global model reconstructions by X. Faïn, S. Szopa, V. Naïk, P. Martinerie, D. M. Etheridge, D. M. Etheridge, R. H. Rhodes, C. M. Trudinger, C. M. Trudinger, V. V. Petrenko, K. Fourteau, P. Place, P. Place

“…Over the 1980–2010 CE period (common era; all subsequent years in the paper are reported in CE), trends in ice archive and firn air observations and AerChemMIP outputs align remarkably well at northern and southern high latitudes, indicating improved quantification of anthropogenic CO emissions and the main CO sink (OH oxidation) compared to ACCMIP. …”
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Protocol of the TransformUs SecondaryTeachers’ perceptions of the program reach, effectiveness,adoption, implementation and maintenance schools program: a type II hybrid implementa... by Harriet Koorts, Anna Timperio, Jo Salmon, David Revalds Lubans, Gavin Abbott, Nicola D Ridgers, Natalie Lander, Ana María Contardo Ayala, Emiliano Mazzoli

“…For the implementation trial, TransformUs Secondary will be disseminated via key organisations nationally (eg, state departments of education) and available to all Australian secondary schools (n=1453). Implementation outcomes will be evaluated using the RE-AIM framework (reach, adoption, implementation and maintenance). …”
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Risk factors affecting polygenic score performance across diverse cohorts by Daniel Hui, Scott Dudek, Krzysztof Kiryluk, Theresa L Walunas, Iftikhar J Kullo, Wei-Qi Wei, Hemant Tiwari, Josh F Peterson, Wendy K Chung, Brittney H Davis, Atlas Khan, Leah C Kottyan, Nita A Limdi, Qiping Feng, Megan J Puckelwartz, Chunhua Weng, Johanna L Smith, Elizabeth W Karlson, Regeneron Genetics Center, Penn Medicine BioBank, Gail P Jarvik, Marylyn D Ritchie

“…We observed overlap between covariates that had significant R2 differences among strata and interaction effects – across all covariates, their main effects on BMI were correlated with their maximum R2 differences and interaction effects (0.56 and 0.58, respectively), suggesting high-PGSBMI individuals have highest R2 and increase in PGS effect. …”
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