bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and genetic spectrum in Chinese families with Fabry disease: a single‐centre case series
Authors: Chen Xin , Li Hezhi , Liao Hongtao , Zhan Xianzhang , Zhong Zhian , Zhang Qianhuan , Liu Lie , Liang Yuanhong , Deng Hai , Fang Xianhong , Xue Yumei , Wu Shulin , Liu Yang 
Published: October 2021

AbstractAimsFabry disease (FD) is an X‐linked genetic disease caused by mutations in the GLA gene that leads to deficient activity of lysosomal enzymes, accumulation of globotriaosylceramide in multi‐organ systems, and variant clinical manifestations. We aimed to detail the clinical and genetic spectrum of FD in Chinese families.Methods and resultsFive male probands with unexplained left ventricular hypertrophy and their family members were investigated. Genetic screening was available in 11 subjects of the 5 families, 10 of whom proved to be carriers of either GLA gene mutation, including 3 previous reported missense mutations (c.128G > A, c.811G > A, c.950T > C), 1 novel missense mutation (c.37G > C), and 1 novel deletion mutation (c.1241delT). A total of 17 patients were definitely or possibly diagnosed of FD, given their clinical manifestations and hereditary nature of FD. Echocardiography demonstrated normal cardiac structure and function in six female patients. Electrocardiographic pre‐excitation occurred in 80% (4/5) of men and 16.7% (1/6) of women. Six patients (6/14, 42.9%) had chronic kidney disease with decreased renal function and all were male (6/7, 85.7%). Six patients presented with acroparesthesia, hypohidrosis, or both. Three female patients and two male patients experienced sudden death, and one male patient with the mutation (c.128G > A) died of progressive heart failure, between 41 and 66 years of age.ConclusionsWe reported five unrelated families of FD with different GLA mutations. Clinical manifestations were highly heterogeneous between male and female patients even within the same family. Female patients showed relatively low risks of structural heart disease and renal insufficiency. However, the long‐term outcomes might be adverse in both sexes. Our study underlines the importance of molecular screening of the GLA gene for early identification and clinical decision making in patients with FD.
Rationale and Design of the Efficacy of a Standardized Diuretic Protocol in Acute Heart Failure Study
Authors: Dauw Jeroen , Lelonek Malgorzata , Zegri‐Reiriz Isabel , Paredes‐Paucar Cynthia P. , Zara Cornelia , George Varghese , Cobo‐Marcos Marta , Knappe Dorit , Shchekochikhin Dmitry , Lekhakul Annop , Klincheva Milka , Frea Simone , Miró Òscar , Barker Diane , Borbély Attila , Nasr Samer , Doghmi Nawal , de la Espriella Rafael , Singh Jagdeep S. , Bovolo Virginia , Fialho Inês , Ross Noel T. , van den Heuvel Mieke , Benkouar Riad , Findeisen Hajo , Alhaddad Imad A. , Al Balbissi Kais , Barge‐Caballero Gonzalo , Ghazi Azmee M. , Bruckers Liesbeth , Martens Pieter , Mullens Wilfried 
Published: October 2021

AbstractAimsAlthough acute heart failure (AHF) with volume overload is treated with loop diuretics, their dosing and type of administration are mainly based upon expert opinion. A recent position paper from the Heart Failure Association (HFA) proposed a step‐wise pharmacologic diuretic strategy to increase the diuretic response and to achieve rapid decongestion. However, no study has evaluated this protocol prospectively.Methods and resultsThe Efficacy of a Standardized Diuretic Protocol in Acute Heart Failure (ENACT‐HF) study is an international, multicentre, non‐randomized, open‐label, pragmatic study in AHF patients on chronic loop diuretic therapy, admitted to the hospital for intravenous loop diuretic therapy, aiming to enrol 500 patients. Inclusion criteria are as follows: at least one sign of volume overload (oedema, ascites, or pleural effusion), use ≥ 40 mg of furosemide or equivalent for >1 month, and a BNP > 250 ng/L or an N‐terminal pro‐B‐type natriuretic peptide > 1000 pg/L. The study is designed in two sequential phases. During Phase 1, all centres will treat consecutive patients according to the local standard of care. In the Phase 2 of the study, all centres will implement a standardized diuretic protocol in the next cohort of consecutive patients. The protocol is based upon the recently published HFA algorithm on diuretic use and starts with intravenous administration of two times the oral home dose. It includes early assessment of diuretic response with a spot urinary sodium measurement after 2 h and urine output after 6 h. Diuretics will be tailored further based upon these measurements. The study is powered for its primary endpoint of natriuresis after 1 day and will be able to detect a 15% difference with 80% power. Secondary endpoints are natriuresis and diuresis after 2 days, change in congestion score, change in weight, in‐hospital mortality, and length of hospitalization.ConclusionsThe ENACT‐HF study will investigate whether a step‐wise diuretic approach, based upon early assessment of urinary sodium and urine output as proposed by the HFA, is feasible and able to improve decongestion in AHF with volume overload.
Cardiovascular magnetic resonance findings in non‐hospitalized paediatric patients after recovery from COVID‐19
Authors: Seidel Franziska , Kuehne Titus , Kelle Sebastian , Doeblin Patrick , Zieschang Victoria , Tschoepe Carsten , Al‐Wakeel‐Marquard Nadya , Nordmeyer Sarah 
Published: October 2021

AbstractAimsOur study aimed to investigate the cardiac involvement with sensitive tissue characterization in non‐hospitalized children with coronavirus disease 2019 (COVID‐19) infection using cardiovascular magnetic resonance (CMR) imaging.Methods and resultsWe prospectively enrolled children who recovered from mildly symptomatic COVID‐19 infection between November 2020 and January 2021. Patients underwent CMR at 1.5 T (Achieva, Philips Healthcare, Best, the Netherlands) including cine images, native T1 and T2 mapping. Healthy children and paediatric patients with biopsy‐proven myocarditis served as control groups. We performed CMR in 18 children with a median (25th–75th percentile) age of 12 (10–15) years, 38 (24–47) days after positive PCR test, and compared them with 7 healthy controls [15 (10–19) years] and 9 patients with myocarditis [10 (4–16) years]. The COVID‐19 patients reported no cardiac symptoms. None of the COVID‐19 patients showed CMR findings consistent with a myocarditis. Three patients (17%) from the COVID‐19 cohort presented with minimal pericardial effusion. CMR parameters of COVID‐19 patients, including volumetric and strain values as well as T1 and T2 times, were not significantly different from healthy controls, but from myocarditis patients. These had significantly reduced left ventricular (LV) ejection fraction (P = 0.035), LV global longitudinal strain, and left atrial strain values as well as elevated native T1 values compared with COVID‐19 patients (P < 0.001, respectively).ConclusionsThere was no evidence of myocardial inflammation, fibrosis, or functional cardiac impairment in the studied cohort of children recently. CMR findings were comparable with those of healthy controls. Pericardial effusion suggests a mild pericarditis in a small subgroup. This is pointing to a minor clinical relevance of myocardial involvement in children after mildly symptomatic COVID‐19 infections.
Mechanism of ammonia oxidation to dinitrogen, nitrite, and nitrate on β‐Ni(OH)2 from first‐principles simulations
Authors: Choueiri Rachelle M. , Tatarchuk Stephen W. , Klinkova Anna , Chen Leanne D. 
Published: October 2021

AbstractThe electrocatalyzed ammonia oxidation reaction (AOR) is a potential pathway toward waste ammonia remediation, energy generation, and the synthesis of value‐added products. To date, mechanistic studies have focused on elucidating the progress of AOR on Pt‐based catalysts with an established pathway for only. In this work, density functional theory was applied to determine the lowest energy intermediates toward nitrogen gas, nitrite, and nitrate formation on ‐, a promising electrocatalyst material for AOR. It was found that dinitrogen formation progresses via NH‐NH coupling, whereas nitrite and nitrate formation occurs via deprotonation of ammonia to form adsorbed N and subsequent hydroxylation to form oxygenated intermediates. This work is the first to report a mechanism for nitrite and nitrate formation and will also serve as a benchmark for future studies on Ni‐based materials.
Scalable downstream method for the cyclic lipopetide jagaricin
Authors: Stein Jakob , Schlosser Nicolas , Bardl Bettina , Peschel Gundela , Meyer Florian , Kloss Florian , Rosenbaum Miriam A. , Regestein Lars 
Published: October 2021

AbstractCyclic lipopeptides are substances with a high potential to act as antimicrobial agents. Jagaricin, produced by Janthinobacterium agaricidamnosum DSM 9628 and discovered in 2012, is a new member of this class with promising antifungal properties. However, further experiments to investigate future applications and/or conduct chemical derivatization to change properties and toxicity are impossible due to the limited access to jagaricin. Besides a high jagaricin concentration at the end of the fermentation process, a suitable downstream process is essential to generate appropriate amounts with the desired purity. In contrast to other amphiphilic molecules, jagaricin cannot be separated by foam fractionation since it is mainly attached to the surface of the microbial biomass. This technical report presents an overall process chain consisting of 11 individual steps to generate jagaricin in gram scale with a purity of over 95%.
Physiologic isolation and expansion of human mesenchymal stem/stromal cells for manufacturing of cell‐based therapy products
Authors: Egger Dominik , Lavrentieva Antonina , Kugelmeier Patrick , Kasper Cornelia 
Published: October 2021

AbstractThe utilization of mesenchymal stem/stromal cells raises new hopes in treatment of diseases and pathological conditions, while at the same time bringing immense challenges for researchers, manufacturers and physicians. It is essential to consider all steps along the in vitro fabrication of cell‐based products in order to reach efficient and reproducible treatment outcomes. Here, the optimal protocols for isolation, cultivation and differentiation of mesenchymal stem cells are required. In this review we discuss these aspects and their influence on the final cell‐based product quality. We demonstrate that physiological in vitro cell cultivation conditions play a crucial role in therapeutic functionalities of cultivated cells. We show that three‐dimensional cell culture, dynamic culture conditions and physiologically relevant in vitro oxygen concentrations during isolation and expansion make a decisive contribution towards the improvement of cell‐based products in regenerative medicine.
Resurrecting an Idaho Icon: How Research and Management Reversed Declines of Native Westslope Cutthroat Trout
Authors: Mallet Jerry , Thurow Russell F 
Published: October 2021

Abstract
Westslope Cutthroat Trout Oncorhynchus clarkii lewisi (WCT), the dominant nonanadromous salmonid in central and northern Idaho, historically were extremely abundant and widely distributed. Despite restricted harvest methods and limits since 1899, many WCT populations declined and by the 1960s, populations in several major drainages were on the brink of collapse. In response, fisheries biologists began investigating WCT population dynamics, life histories, and habitat requirements and developed evidence-based regulations and habitat restoration alternatives. Here we describe fluvial WCT case histories that illustrate how research and management collaborated to rebuild populations. The sustained and successful effort to restore fluvial WCT in Idaho offers insights to assist WCT recovery efforts elsewhere. Today, populations in many watersheds have been rehabilitated and WCT currently inhabit about 80% of their historical stream range. Despite continued threats, many Idaho WCT populations are relatively secure, provide unique recreational opportunities, and remain an important ecological, cultural, and economic resource.
Checked Out? Videogame Programming in U.S. Libraries and Implications for Videogame Literacies
Authors: Abrams Sandra Schamroth , Van Eck Richard N. 
Published: October 2021

AbstractVideogames and videogame literacies are an important and growing aspect of education, yet videogaming remains poorly understood and even viewed with suspicion by many who are charged with promoting them. In the case of libraries, such views can lead to insufficient funding and policies that reduce the presence of youth programing that includes videogame play, and, therefore, it is important to understand the factors that support or inhibit videogame programming in libraries. This article presents findings from a national survey of more than 1,000 U.S. librarians in all 50 states to begin to understand the factors that might promote the presence (and absence) of videogame programming; the factors that support and impede the success of such programming; and the literacies that such youth programming might foster. Although this study focuses on videogame programming in libraries, its findings are relevant to anyone who promotes the development of youth literacies.
Social integration in recovery living environments: A dynamic network approach
Authors: Jason Leonard A. , Bobak Ted , Islam Mohammed , Guerrero Mayra , Light John M. 
Published: October 2021

AbstractOxford Houses (OHs) are a large network of self‐run community‐based settings for individuals with substance use disorders. This present study explored a model based on conceptualizing recovery home social systems as dynamic multirelational (multiplex) social networks. The model is developed from data obtained from 42 OH recovery homes in three parts of the US, addressing whole networks of friendship, close friendship, and willingness to loan money. Findings indicated that close friend and loan relationships mutually reinforced each other over time as they coevolved. These types of insights can help community psychologists to better understand complex network dynamics in community‐based settings.
Immersive virtual reality simulated learning environment versus role‐play for empathic clinical communication training
Authors: Sapkaroski Daniel , Mundy Matthew , Dimmock Matthew Richard 
Published: October 2021

AbstractIntroductionThe use of immersive virtual reality simulated learning environments (VR SLEs) for improving clinical communication can offer desirable qualities including repetition and determinism in a safe environment. The aim of this study was to establish whether the mode of delivery, VR SLE versus clinical role‐play, could have a measurable effect on clinical empathic communication skills for MRI scenarios.MethodsA split‐cohort study was performed with trainee practitioners (n = 70) and qualified practitioners (n = 9). Participants were randomly assigned to four groups: clinician VR (CVR), clinician role‐play (CRP), trainee VR (TVR), and trainee RP (TRP). Clinical communication skills were assessed using two methods: firstly, a self‐reported measure – the SE‐12 communication questionnaire and, secondly, a training and assessment tool developed by a panel of experts.ResultsParticipants in the VR trainee (TVR) and clinician (CVR) groups reported 11% (P < 0.05) and 7.2% (P < 0.05) improvements in communication confidence post training, whereas trainees assigned to the role‐play (TRP) intervention reported a 4.3% (P < 0.05) improvement. Empirical assessment of communication training scores assessing a participant’s ability to select empathic statements showed the TVR group performed 5% better on average than their role‐play counterparts (P < 0.05).ConclusionThe accuracy of participant's selection of appropriate empathic responses was shown to differ significantly following the training intervention designed to improve interactions with patients that present for an MRI scan. The results may demonstrate the capacity for immersion into an emotional narrative in a VR environment to increase the user’s susceptibility for recalling and selecting empathic terminology.
Severe Versus Very Severe Pediatric Obstructive Sleep Apnea Outcomes After Adenotonsillectomy
Authors: Uppalapati Akhil V. , Hubbell Richard D. , Cheung Anthony Y. , Kakarlapudi Sraavya , Cohen Michael B. , Levi Jessica R. 
Published: October 2021

Objectives/HypothesisAdenotonsillectomy (AT) is generally considered the first line treatment for pediatric patients with obstructive sleep apnea (OSA). Pediatric patients with severe OSA have worse outcomes after AT than patients with milder OSA. It is currently unclear if this group of higher morbidity patients should be subdivided further. This study investigates patients with severe pediatric OSA to determine if there are differences in postsurgical outcomes based on initial severity of sleep disordered breathing, medical comorbidities, or demographic factors.Study DesignRetrospective cohort study at a single tertiary referral center.MethodsPatients aged 2–18 who underwent polysomnogram (PSG) from October 2012 to January 2019, had an apnea‐hypopnea index (AHI) >10, and subsequently underwent AT were identified using a filter through electronic medical record. A total of 112 patients underwent both pre‐ and postoperative PSG. Bivariate analysis was conducted via Pearson chi‐square test. Univariate and multivariate analyses via binary logistic and multinomial linear regressions were performed using SPSS.ResultsOf the 112 patients included in this study, 68 patients were identified as having severe OSA (AHI = 10–20) and 44 as having very severe OSA (AHI > 20). Very severe OSA patients were significantly less likely to be cured of sleep disordered breathing or have their OSA reduced to mild OSA. Obese patients were found to have less reduction in AHI after AT.ConclusionsThe postsurgical outcomes of patients with severe and very severe OSA are significantly different indicating that patients traditionally categorized as having severe OSA may need to be further subcategorized.Level of Evidence4 Laryngoscope, 132:1855–1860, 2022
PARP5B is required for nonhomologous end joining during tumorigenesis in vivo
Authors: Wu Jianchun , Crowe David L. 
Published: October 2021

AbstractPoly(ADP‐ribose) polymerases (PARP) act as DNA damage sensors that produce poly(ADP‐ribose) (PAR) chains at double‐strand breaks, facilitating the recruitment of repair factors. Cancers with homologous recombination defects are sensitive to small molecule PARP inhibitors. Despite PARP5B gene copy number changes in many cancers, the effects of this genetic alteration on tumor phenotype are largely unknown. To better understand this clinical finding, we characterized a PARP5B null mutation in a carcinogen‐induced in vivo head and neck squamous cell carcinoma (SCC) model. Reduced PARP5B expression inhibited tumor growth, induced primary tumor differentiation and apoptosis, and inhibited cell proliferation and metastasis. Loss of PARP5B expression‐induced ataxia telangiectasia and Rad3 related (ATR) activation and depleted the cancer stem cell fraction. PARP5B null tumor cells lacked 53BP1+ double‐strand break foci, ATM activation, and p53 induction compared to PARP5B+/+ cancers. PARP5B null SCC expresses a multiprotein complex containing PML, pRPA, Rad50, Rad51, XRCC1, proliferating cell nuclear antigen (PCNA), and Mcm2, suggesting an HR‐mediated repair mechanism at DNA replication foci. Low doses of etoposide combined with the PARP5B inhibitor XAV939 induced senescence and apoptosis in human SCC lines. NBS1 overexpression in these cells inhibited the effects of low‐dose etoposide/XAV939 treatment. Our results indicate that PARP5B inhibition is new targeted cancer therapy.
THN 102 for Excessive Daytime Sleepiness Associated with Parkinson's Disease: A Phase 2a Trial
Authors: Corvol Jean‐Christophe , Azulay Jean‐Philippe , Bosse Björn , Dauvilliers Yves , Defebvre Luc , Klostermann Fabian , Kovacs Norbert , Maltête David , Ondo William G. , Pahwa Rajesh , Rein Werner , Thobois Stéphane , Valis Martin , Videnovic Aleksandar , Rascol Olivier ,   for the THN102‐202 Study Investigators
Published: October 2021

AbstractBackgroundExcessive daytime sleepiness (EDS) is a frequent and disabling symptom of Parkinson's disease (PD) without approved treatment. THN102 is a novel combination drug of modafinil and low‐dose flecainide.ObjectiveThe aim of this study is to evaluate the safety and efficacy of THN102 in PD patients with EDS.MethodsThe method involved a randomized, double‐blind, placebo‐controlled, crossover trial testing two doses of THN102 (200 mg/d modafinil with 2 mg/d [200/2] or 18 mg/d flecainide [200/18]) versus placebo; 75 patients were exposed to treatment. The primary endpoint was safety. The primary efficacy outcome was the change in Epworth Sleepiness Scale (ESS) score.ResultsBoth doses of THN102 were well tolerated. ESS significantly improved with THN102 200/2 (least square means vs. placebo [95% confidence interval, CI]: −1.4 [−2.49; −0.31], P = 0.012) but did not change significantly with the 200/18 dosage.ConclusionsTHN102 was well tolerated and showed a signal of efficacy at the 200/2 dose, supporting further development for the treatment of EDS in PD. © 2021 International Parkinson and Movement Disorder Society
Forces Driving the Development of Particle Morphology of Waterborne Polymer Dispersions
Authors: Abdeldaim Hesham , Asua José M. 
Published: October 2021

AbstractParticle morphology is a key characteristic of the waterborne polymer dispersions and plenty of effort has been dedicated to understand the mechanisms controlling the development of the morphology during polymerization. The availability of new characterization techniques that provide unprecedented quantitative details of the particle morphology have questioned the ideas about the driving forces ruling the development of the morphology. In this article, the case is considered of a seeded emulsion polymerization in which the second stage polymer (Polymer 2) is more hydrophobic than the seed polymer and a water‐soluble initiator is used. Simulations of the effect of the different forces involved in the formation of the particle morphology carried by integrating the Navier–Stokes are compared with available experimental results. If is found that the interfacial tensions are responsible for the penetration of clusters of polymer 2 within the seed polymer and the spread of these clusters over the surface of the particle. On the other hand, van der Waals forces control coalescence of the clusters both at the surface and in the interior of the particle.
Grandparent Inference from Genetic Data: The Potential for Parentage-Based Tagging Programs to Identify Offspring of Hatchery Strays
Authors: Delomas Thomas A. , Campbell Matthew R. 
Published: October 2021

Abstract
Fisheries managers routinely use hatcheries to increase angling opportunity. Many hatcheries operate as segregated programs where hatchery-origin fish are not intended to spawn with natural-origin conspecifics in order to prevent potential negative effects on the natural-origin population. Currently available techniques to monitor the frequency with which hatchery-origin strays successfully spawn in the wild rely on either genetic differentiation between the hatchery- and natural-origin fish or extensive sampling of fish on the spawning grounds. We present a method to infer grandparent–grandchild trios by using only genotypes from two putative grandparents and one putative grandchild. We developed estimators of false-positive and false-negative error rates and showed that genetic panels containing 500–700 single-nucleotide polymorphisms or 200–300 microhaplotypes are expected to allow application of this technique for monitoring segregated hatchery programs. We discuss the ease with which this technique can be implemented by pre-existing parentage-based tagging programs and provide an R package that applies the method.