bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering
Authors: Gunasekaran Nandhini Devi , Jayasankaran Chandru , Justin Margret Jeffrey , Krishnamoorthy Mathuravalli , Srisailapathy C. R. Srikumari 
Published: May 2021

AbstractStuttering is a childhood‐onset fluency disorder, intertwined with physiological, emotional, and anxiety factors. The present study was designed to evaluate the recurrence of the reported mutations among three previously implicated (GNPTAB, GNPTG, NAGPA) candidate genes, in persons with stuttering from south India. Mutation screening was performed among 64 probands on 12 specific exons, by Sanger sequencing. A total of 12 variants were identified, which included five nonsynonymous, five synonymous, and two noncoding variants. Three unrelated probands harbored heterozygous missense variants at conserved coding positions across species (p. Glu1200Lys in GNPTAB, p. Ile268Leu in GNPTG and p. Arg44Pro in NAGPA). Of these, only one variant (p. Glu1200Lys in GNPTAB) cosegregated with the affected status while p. Ile268Leu in GNPTG gene was found to be a rare de novo variant. Although this study identified some previously reported variants that have been claimed to have a role in stuttering, we confirmed only one of these to be a likely causal de novo variant (p.Ile268Leu) in the GNPTG gene at an allele frequency of 0.8% (1/128) in the families with stuttering.
Lenalidomide abrogates the survival effect of bone marrow stromal cells in chronic lymphocytic leukemia
Authors: Kriston Csilla , Hernádfői Márk , Plander Márk , Márk Ágnes , Takács Ferenc , Czeti Ágnes , Szalóki Gábor , Szabó Orsolya , Matolcsy András , Barna Gábor 
Published: May 2021

AbstractIn the pathogenesis of chronic lymphocytic leukemia (CLL) the microenvironment plays an important role, as it produces survival signals and mediates drug resistance. Lenalidomide, which has immunomodulatory effect, can enhance the activation of T‐, NK‐cells and endothelial cells, however there are no data available whether it can modulate bone marrow stromal cells (BMSCs). In our study, we investigated the effects of lenalidomide on BMSCs and CLL cells. CLL cells were cultured alone or with BMSCs and were treated with lenalidomide. Apoptosis, immunophenotype, and cytokine secretion of BMSCs and CLL cells were determined by flow cytometry. Lenalidomide slightly increased the apoptosis of CLL cells and abrogated the anti‐apoptotic effect of BMSCs on CLL cells. Lenalidomide treatment decreased the expression of antigens on CLL cells, which mediate the interactions with the microenvironment. Interestingly, lenalidomide enhanced the expression of IRF4 and the co‐stimulatory molecule CD86. The secretion of several cytokines was not changed significantly by lenalidomide. CD49d‐negative CLL cases were more sensitive to lenalidomide treatment. Our results suggest that lenalidomide has a limited effect on BMSCs, but it renders CLL cells more immunogenic and unresponsive to survival signals provided by BMSCs.
Comparing the properties of the EQ‐5D‐5L and EQ‐5D‐3L in general population in Iran
Authors: Rezaei Satar , Woldemichael Abraha , Ahmadi Sina , Mohamadi Bolbanabad Amjad , Zahir Abdullah Farman , Piroozi Bakhtiar 
Published: May 2021

AbstractBackgroundLittle information exists on properties of EQ‐5D‐5L (the 5L hereafter) compared to the EQ‐5D‐3L (the 3L hereafter) measures in the context of Iran. This study aims to compare the measurement properties of the two versions of the EQ‐5D (the 3L vs. the 5L) using data obtained from general population in Iran.MethodsA total of 886 adults aged 18 years and above from September to November 2020 participated in this cross‐sectional analysis. The required data collected using self‐administered and—standard questionnaire and multistage sampling method was used to select the samples. The 3L and 5L measures compared in terms of celling effect, distribution and redistribution pattern, feasibility, convergent validity, know‐groups validity and informativity.ResultsFrom September to November 2020, 886 adults (mean aged = 44.6 years; 55% male and 87.1% married) included in the study. The study indicated that the 5L had lower celling effects compared to the 3L (45% vs. 46%). A better convergent validity and known‐groups validity was found for the 5L version compared to the 3L and significantly stronger association found between the 5L measure with both the Visual Analogue Scale and the 5‐point health status scale. The 5L index score showed higher relative efficiency (RE) in 9 of 11 condition (mean RE = 1.36). Compared to the 3L, the 5L classification system had higher Shannon index (H′) in all dimensions: mobility (0.52 vs. 0.40), self‐care (0.23 vs. 0.20), usual activities (0.61 vs. 0.47), pain/discomfort (1.19 vs. 0.89) and anxiety/depression (1.22 vs. 0.47).ConclusionThe study demonstrated that the measurement properties of 5L version in terms of celling effects, convergent validity, known‐groups validity, RE and informativity similar or better than the 3L among general population; suggesting the use of 5L in the context of Iran. Hence, we suggested the use of the 5L in economic evaluation, clinical and public health studies in Iran.
Oligometastatic breast cancer: Are we there yet?
Authors: AlSendi Maha , O'Reilly David , Zeidan Youssef H. , Kelly Catherine M. 
Published: May 2021

AbstractPatients with metastatic breast cancer are usually considered incurable. Recent advances have resulted in significant improvements in survival for patients with metastatic breast cancer. Due to the lack of randomised trials and heterogeneous disease biology, treatment decisions for patients with oligometastatic breast cancer vary widely. Some patients are treated similar to those with widespread disease while others are treated more aggressively. We conducted a review of the evidence for treatment options in oligometastatic breast cancer and consulted ClinicalTrials.gov to explore currently accruing or studies in development aimed at investigating oligometastatic disease in breast cancer. Surgery to the primary tumour in patients with metastatic breast cancer has failed to show any advantage over systemic therapy. However, there may be a benefit in women with controlled systemic disease who are hormone receptor positive with bone‐predominant metastasis. Stereotactic radiotherapy has gained increased interest in this setting due to its excellent efficacy and lower rates of associated toxicity. A significant challenge remains in identifying the patient population who would benefit from such an approach, and to do so, we need to understand the distinct biology of oligometastatic breast cancer. Unique miRNA expression and low levels of tumour infiltrating lymphocytes in the immune micro‐environment have been described in tumour tissues in patients with oligometastatic breast cancer. There is ongoing research aimed to better characterise these tumours, thus, allowing the selection of patients who would truly benefit from multi‐modality treatment in an attempt for long‐term survival and cure.
A ROR1 small molecule inhibitor (KAN0441571C) induced significant apoptosis of ibrutinib‐resistant ROR1+ CLL cells
Authors: Ghaderi Amineh , Okhovat Mohammad‐Ali , Wikanthi Layung Sekar Sih , Svensson Ann , Palma Marzia , Schultz Johan , Olin Thomas , Österborg Anders , Mellstedt Håkan , Hojjat‐Farsangi Mohammad 
Published: May 2021

AbstractROR1 – a receptor tyrosine kinase – is overexpressed in CLL. Ibrutinib, a Bruton's tyrosine kinase inhibitor, is clinically effective in CLL but patients may develop resistance. We evaluated the effect of an ROR1 inhibitor, KAN0441571C, in CLL cells from six patients obtained before and after developing resistance to ibrutinib. The ROR1 inhibitor induced apoptosis in ibrutinib‐resistant CLL cells to the same degree as in ibrutinib‐sensitive cells and dephosphorylated ROR1. This was also noted in one patient who became resistant to both ibrutinib and the Bcl‐2 inhibitor venetoclax. The combination of ROR1 inhibitor and venetoclax had a synergistic apoptotic effect on ibrutinib‐resistant cells.
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Authors: Toquet Ségolène , Spodenkiewicz Marta , Douillard Claire , Maillot François , Arnoux Jean‐Baptiste , Damaj Lena , Odent Sylvie , Moreau Caroline , Redonnet‐Vernhet Isabelle , Mesli Samir , Servais Aude , Noel Esther , Charriere Sybill , Rigalleau Vincent , Lavigne Christian , Kaphan Elsa , Roubertie Agathe , Besson Gérard , Bigot Adrien , Servettaz Amélie , Mochel Fanny , Garnotel Roselyne 
Published: May 2021

AbstractUrea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not treated rapidly. The aim was to describe a cohort of patients with adult onset of UCDs in a multicentric, retrospective and descriptive study of French adult patients with a diagnosis after 16 years of age of UCDs due to a deficiency in one of the 6 enzymes (arginase, ASL, ASS, CPS1, NAGS, OTC) or the two transporters (ORNT1 or citrin). Seventy‐one patients were included (68% female, 32% male). The diagnosis was made in the context of (a) a metabolic decompensation (42%), (b) family history (55%), or (c) chronic symptoms (3%). The median age at diagnosis was 33 years (range 16‐86). Eighty‐nine percent of patients were diagnosed with OTC deficiency, 7% CPS1 deficiency, 3% HHH syndrome and 1% argininosuccinic aciduria. For those diagnosed during decompensations (including 23 OTC cases, mostly female), 89% required an admission in intensive care units. Seven deaths were attributed to UCD—6 decompensations and 1 epilepsy secondary to inaugural decompensation. This is the largest cohort of UCDs diagnosed in adulthood, which confirms the triad of neurological, gastrointestinal and psychiatric symptoms during hyperammonemic decompensations. We stress that females with OTC deficiency can be symptomatic. With 10% of deaths in this cohort, UCDs in adults remain a life‐threatening condition. Physicians working in adult care must be aware of late‐onset presentations given the implications for patients and their families.
Koppen–Trewartha climate classification as a diagnostic tool to identify pronounced changes in the projected climate by the General Circulation Models over India
Authors: Bindhu Vijayalekshmi Muraleedharan , Smitha Prema Somanathan , Narasimhan Balaji , Annamalai Hariharasubramanian , Srinivasan Govindarajalu 
Published: May 2021

AbstractEarth's changing climate will pose a major threat to terrestrial ecosystems in their present state of equilibrium that support human habitats. Understanding the underlying aspects of climate change that influence ecosystems is crucial to devise adaptation strategies and conservation efforts. To this end, climate classification schemes can be employed as an effective means for both validation of climate models and identify areas that may experience a pronounced shift in climate in the future. In this context, the current study focuses on the impact of climate change on shift in climatic regimes over the Indian sub‐continent for the mid and late 21st century with respect to the reference period (1975–2005). Koppen–Trewartha climate (KTC) classification was applied to climate projections resulting from four downscaled General Circulation Models from the NASA Earth Exchange Global Daily Downscaled Climate Projections, under two RCPs (4.5 and 8.5) along with global Climate Research Unit TS‐3.23 dataset which is treated as observed. Analysis of the future 21st century climate projections revealed noticeable shifts in climate types, of which expansion of arid and savannah class is the most prominent. Results indicate that the sub‐continental scale analysis done at a grid cell‐by‐grid cell basis was able to locate potentially static and dynamic climate regions across the country with projected shifts from warmer/wetter to drier climate regime. This in turn is expected to pose serious threat to various sectors, especially agriculture, owing to its heavy dependence on water resources. The observations from the study provide information on the magnitude and pattern of change in climate types across the country and thus can serve as prospective reference to develop adequate and effective climate adaptation strategies.
Improving picture‐reproducing quality by a new color gamut mapping method
Authors: Xia Daxue , Chen Lin , Xie Renli 
Published: May 2021

AbstractThe color gamut of input source and the display set usually are disparate; therefore, a mapping mechanism between them is necessary and makes significant impact on the picture‐reproducing quality. In this paper, a new gamut mapping algorithm is proposed, which reduces color difference significantly between the source and target, compared with that without adopting such mapping process. The gamma behavior of luminance dependence on gray scale has been little affected. Artifacts like saturation inversion and hue inconsistency are avoided.
Target profiling of beer styles by their iso‐α‐acid and phenolic content using liquid chromatography–quadrupole time‐of‐flight–mass spectrometry
Authors: Anderson Hailee E. , Liden Tiffany , Berger Blair K. , Schug Kevin A. 
Published: May 2021

AbstractBeer styles show wide variation in color, flavor, and clarity, due to differences in their chemical content. Some of the major flavor compounds in beer are isomerized alpha acids and phenolic compounds. These were investigated as potentially discerning features between beer styles. A selection of 32 American beers covering five styles was analyzed using liquid chromatography quadrupole time‐of‐flight mass spectrometry, which resulted in high mass accuracy chromatograms of the studied analytes. Distinctions between the presence or relative concentrations of certain compounds were observed and related back to brewing ingredients and procedures. For example, vanillin was only observed in stout beers due to the use of roasted barley malts for brewing, while chlorogenic acid isomers were found in two sours at relatively high concentrations (189 and 34 mg/L) because of the fruits used to flavor the beers. Distinctions were further confirmed using multivariate analysis techniques, which separated three of the five beer styles (India pale ales, stouts, and sours).
Detection of land degradation caused by historical Zn‐Pb mining using electrical resistivity tomography
Authors: Kondracka Marta , Cabała Jerzy , Idziak Adam , Ignatiuk Dariusz , Bielicka‐Giełdoń Aleksandra , Stan‐Kłeczek Iwona 
Published: May 2021

AbstractSoil contamination with trace elements in mining areas still remains an urgent research problem due to their negative environmental impact that needs to be assessed. Despite the wide application of the electrical resistivity tomography (ERT) method to different environmental problems, it continually remains methodologically challenging in soil contamination near waste dumps of post‐metal historical mining. The aims of our study were: (1) to validate ERT measurements for detecting soil contamination by trace elements in the vicinity of a waste dump containing post‐processing spoil from Zn‐Pb ore smelting, (2) to determine the extent of soil contamination, and (3) to analyze the mineralogical, physical, and chemical properties of the soils affected. ERT enabled us to study the variability of electrical properties of soils, to locate the area of contamination, and to evaluate its spatial diversity in both. The impact of soil pollution is reflected on ERT cross‐sections in the form of electrical resistivities that decrease with increasing depth and distance from the waste dump. The respective maximum contents of Zn, Pb and Cd in the soils were 28,903, 12,407, and 136 mg kg−1. The total concentration of trace elements in soils was the highest down to a depth of 0.25 m and decreased in the order: Zn > Pb > Cu > Cd > Tl > As > Cr > Ni. The electrical resistivities of the soil samples were negatively correlated with the silty and clayey fraction content (−0.78), specific electrical conductivity (−0.75), total trace element content (−0.67), organic matter content (−0.57), and gravimetric water content (−0.53). The results also indicate that the electrical properties of the topsoil depend directly on the type of mineral components. Hydrated iron sulphates, lead sulphates, water‐bound in aluminosilicates, Fe oxides/hydroxides, and hydrated Fe, Zn, and Pb sulphates present in the soil all decrease its electrical resistivity. Our results show the impact of the mineralogical, physical, and chemical properties of the soils on the measured electrical resistivity and that including this information in the interpretation of ERT results enables non‐invasive detailed determination of soil contamination by trace elements.
Ten years of monitoring recruitment of the edible stalked barnacle Pollicipes pollicipes: linking to oceanographic variability
Authors: Fernandes Joana Nascimento , Jacinto David , Penteado Nélia , Sousa Alina , Mateus David , Seabra Maria Inês , Silva Teresa , Castellanos Paola , Castro João José , Cruz Teresa 
Published: May 2021

AbstractUnderstanding recruitment patterns of an exploited species is essential to predict changes in population dynamics and to improve its management and conservation. Temporal variability in recruitment of the edible stalked barnacle Pollicipes pollicipes was analyzed over a decade (consecutive annual recruitment seasons from 2007 to 2016) at a cape area located in the Canary‐Iberia Current Upwelling System (Cape of Sines, Southwestern Portugal), in terms of (1) the timing and length of the main recruitment season and (2) the variation in monthly and annual recruitment intensity and its relationship with several oceanographic variables. A longer recruitment season was detected, corresponding to approximately 9–10 months (June through either March or April of the following year, as in 2012, 2015, and 2016) in recent years, while a shorter recruitment season was detected between 2007 and 2010 (< 5 months, September–January in 2007 and July–December in 2010). Mean annual recruitment from 2012 to 2016 was about four times higher (ca. 43 recruits adult−1) than in the first 5 yr of the 10‐yr period (ca. 12 recruits adult−1). Correlation analyses between monthly recruitment and oceanographic variables revealed a significant positive correlation with sea surface temperature and a negative correlation with upwelling index. Results indicate a trend toward a longer recruitment season and a higher recruitment intensity in recent years (2012–2016), and a clear association between recruitment of P. pollicipes and both relaxation of upwelling and seawater warming.
Gratitude and sustainable consumer behavior: A moderated mediation model of time discounting and connectedness to the future self
Authors: Liang Jianping , Guo Leilei 
Published: May 2021

AbstractPrevious studies have explored the relationship between positive emotions and individuals’ sustainable consumer behavior, but the results are inconsistent. Emotions with the same valence but different cognitive appraisals may have different effects on such behavior. Therefore, it is necessary to examine the effects of specific positive emotions on sustainable consumer behavior. Using a longitudinal survey and three experimental studies, this study tests the effect of gratitude on sustainable product choice and examines the underlying psychological mechanism. The results indicate that both trait and state gratitude increase individuals’ sustainable product choice. Furthermore, time discounting mediates the relationship between gratitude and sustainable product choice. Connectedness to the future self moderates the mediation process in the path from gratitude to sustainable product choice and in that from gratitude to time discounting. The findings enrich our understanding of the relationship between gratitude and sustainable product choice and provide marketers with tools to increase consumers’ sustainable product choice by incorporating a gratitude appeal into their marketing communications.
Tracking Huntingtonʼs Disease Progression Using Motor, Functional, Cognitive, and Imaging Markers
Authors: Abeyasinghe Pubu M. , Long Jeffrey D. , Razi Adeel , Pustina Dorian , Paulsen Jane S. , Tabrizi Sarah J. , Poudel Govinda R. , Georgiou‐Karistianis Nellie 
Published: May 2021

ABSTRACTBackgroundPotential therapeutic targets and clinical trials for Huntingtonʼs disease have grown immensely in the last decade. However, to improve clinical trial outcomes, there is a need to better characterize profiles of signs and symptoms across different epochs of the disease to improve selection of participants.ObjectiveThe objective of the present study was to best distinguish longitudinal trajectories across different Huntingtonʼs disease progression groups.MethodsClinical and morphometric imaging data from 1082 participants across IMAGE‐HD, TRACK‐HD, and PREDICT‐HD studies were combined, with longitudinal times ranging between 1 and 10 years. Participants were classified into 4 groups using CAG and age product. Using multivariate linear mixed modeling, 63 combinations of markers were tested for their sensitivity in differentiating CAG and age product groups. Next, multivariate linear mixed modeling was applied to define the best combination of markers to track progression across individual CAG and age product groups.ResultsPutamen and caudate volumes, individually and/or combined, were identified as the best variables to both differentiate CAG and age product groups and track progression within them. The model using only caudate volume best described advanced disease progression in the combined data set. Contrary to expectations, combining clinical markers and volumetric measures did not improve tracking longitudinal progression.ConclusionsMonitoring volumetric changes throughout a trial (alongside primary and secondary clinical end points) may provide a more comprehensive understanding of improvements in functional outcomes and help to improve the design of clinical trials. Alternatively, our results suggest that imaging deserves consideration as an end point in clinical trials because of the prospect of greater sensitivity. © 2021 International Parkinson and Movement Disorder Society