bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of mixed linkage β‐glucan quantitative trait loci and evaluation of AsCslF6 homoeologs in hexaploid oat
Authors: Fogarty Melissa C. , Smith Scott M. , Sheridan Jaime L. , Hu Gongshe , Islamovic Emir , Reid Rob , Jackson Eric W. , Maughan Peter J. , Ames Nancy P. , Jellen Eric N. , Hsieh Tzung‐Fu 
Published: February 2020

AbstractHexaploid oat (Avena sativa L.) is a commercially important cereal crop due in part to (1‐3,1‐4)‐β‐D‐glucan (β‐glucan), a hemicellulose important to human health. Cellulose synthase‐like (Csl) genes have been shown to contribute to β‐glucan production, with CslF6 likely being of major importance. Here, we report a genome‐wide association study (GWAS) to identify quantitative trait loci (QTLs) controlling β‐glucan production in oat. Three panels of elite accessions (Spring, Winter, and World Diversity) of oat were grown in multiple North American locations and genotyped using the Oat 6K Custom Infinium iSelect BeadChip. Independent GWAS were performed on each set of accessions and locations, with a meta‐analysis identifying 58 significantly associated markers. Synteny with the barley (Hordeum vulgare L.) genome identified four major regions of interest revealing the CslF and CslH gene families along with UGPase and AGPase as candidate genes. Subgenome‐specific expression of the A, C, and D AsCslF6 homoeologs revealed that AsCslF6_C is the least expressed in all tissue types and time points, with low‐β‐glucan varieties recording the highest proportion of AsCslF6_C expression. Linkage mapping of the homoeologs placed AsCslF6_D on consensus linkage group Mrg02 overlapping with QTL 2.2 and AsCslF6_A on Mrg12 flanked by markers associated with QTL 12.2. Many QTLs identified in this study were homoeologous, representing different gene copies duplicated in ancestral genomes, suggesting that multiple homoeologous copies of β‐glucan biosynthesis genes are contributing to the overall phenotype.
Transcranial sonography imaging of brainstem raphe, substantia nigra and cerebral ventricles in patients with geriatric depression
Authors: Şenel Başak , Özel‐Kızıl Erguvan T. , Sorgun Mine H. , Tezcan‐Aydemir Sabiha , Kırıcı Sevinç 
Published: February 2020

ObjectivesGeriatric depression is a special condition associated with a chronic course, treatment resistance and vascular processes. However, its neurobiology has not been fully elucidated. There is no study in geriatric depression evaluating deep brain structures with transcranial sonography (TCS) which is a low‐cost, non‐invasive and practical tool. The present study aimed to evaluate the changes in the echogenicity of brainstem raphe (BR), substantia nigra (SN) and ventricular diameters by TCS in association with cognitive dysfunctions in patients with geriatric depression.MethodsEchogenicity of BR and SN were assessed and transverse diameters of the third ventricle and frontal horns of the lateral ventricles were measured by TCS in 34 patients with DSM‐5 major depression and 31 healthy volunteers aged 60 and older. Cognitive functions were evaluated by using Mini Mental State Examination, Montreal Cognitive Assessment Tool, Clock Drawing Test and Subjective Memory Complaints Questionnaire.ResultsAlthough depressed patients had more subjective memory complaints than controls, they had similar cognitive performances. Reduced echogenicity (interrupted/invisible echogenic line) of BR was found to be significantly higher and the ventricular diameters were larger in the depressed group. There was no difference between the groups in terms of SN echogenicity. There was no correlation between ventricular diameters and depression severity or cognitive functions.ConclusionsResults of the present study are important in terms of pointing out neurobiological changes related to geriatric depression which are in parallel with the results of the studies in younger patients with depression. However, long‐term follow‐up studies are required for accurate differentiation of neurocognitive disorders.
Oral squamous cell carcinoma involving the maxillae: Factors affecting local recurrence and the value of salvage treatment for overall survival
Authors: Slieker Fons J. B. , de Bree Remco , Van Cann Ellen M. 
Published: February 2020

AbstractObjectiveTo determine factors associated with local recurrence (LR) of oral squamous cell carcinoma involving the maxillae (MSCC) and overall survival (OS) after salvage treatment.Subjects and MethodsRetrospective study of MSCC operated between 2000 and 2015. Kaplan‐Meier survival and Cox regression were used for analysis of MSCC‐associated clinical and histopathological factors.ResultsNinety‐five patients were included. LR occurred in 24% of patients. Vascular invasion significantly increased the risk of LR (hazard ratio 4.595, P = .003). Local salvage surgery, in the area of the original tumor, significantly prolonged OS, compared to palliative treatment (P = .001) and extensive salvage surgery (P = .013). Extensive salvage surgery, requiring resection of adjacent facial structures, did not prolong OS compared to palliative treatment (P = .186).ConclusionsMSCC with vascular invasion has higher risk of LR. Salvage surgery may prolong OS in small recurrences but might have dubious value for larger recurrences infiltrating adjacent facial structures.
Doxorubicin‐loaded polyphosphate glass microspheres for transarterial chemoembolization
Authors: Nix Hayden P. , Momeni Arash , Chevrier Daniel M. , Whitman Catherine A. , Filiaggi Mark J. 
Published: February 2020

AbstractThe standard of care for intermediate stage hepatocellular carcinoma is transarterial chemoembolization (TACE). Drug‐eluting bead TACE (DEB‐TACE) has emerged as a leading form of TACE, as it uses highly calibrated microspheres to deliver consistent embolization and controlled drug release to the tumor microenvironment. We report here on doxorubicin (DOX)‐loaded polyphosphate glass microspheres (PGM) as a novel resorbable, radiopaque, preloaded DEB‐TACE platform. Coacervate composed of polyphosphate chains complexed with Ba2+, Ca2+, and Cu2+ can be loaded with DOX prior to PGM synthesis, with PGM production achieved using a water‐in‐oil emulsion technique at room temperature yielding highly spherical particles in clinically relevant size fractions. In vitro, DOX release was found to be linear, pH dependent, and in accordance with Type II non‐Fickian transport. PGM degradation was characterized by an initial burst release of degradation products over 7 days, followed by a plateau in mass loss at approximately 75% over a period of several weeks. in vitro studies indicate that PGM degradation products, namely Cu2+, are cytotoxic and may interact with eluted DOX to impair its pharmacological activity. With additional compositional considerations, this approach may prove promising for DEB‐TACE applications.
Hyperparathyroidism in Patients With X-Linked Hypophosphatemia
Authors: Lecoq Anne-Lise , Chaumet-Riffaud Philippe , Blanchard Anne , Dupeux Margot , Rothenbuhler Anya , Lambert Benoit , Durand Emmanuel , Boros Erika , Briot Karine , Silve Caroline , Francou Bruno , Piketty Marie , Chanson Philippe , Brailly-Tabard Sylvie , Linglart Agnès , Kamenický Peter 
Published: February 2020

ABSTRACT
X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25-OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty-eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7–72.7 versus 36.0 ng/L, IQR 27.7–44.0, p &lt; .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early-onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research.
Relationship between pancreatic cancer‐associated diabetes and cachexia
Authors: Liao Wei‐Chih , Chen Peng‐Ruei , Huang Cheng‐Chieh , Chang Yen‐Tzu , Huang Bo‐Shih , Chang Chin‐Chen , Wu Ming‐Shiang , Chow Lu‐Ping 
Published: February 2020

AbstractBackgroundPancreatic cancer‐associated diabetes mellitus (PCDM) is a paraneoplastic phenomenon characterized by worsening hyperglycaemia and weight loss. Galectin‐3 and S100A9, mediators of PCDM, have pro‐inflammatory functions and might thereby induce systemic inflammation and cachexia. We aimed to examine whether PCDM directly mediates cachexia.MethodsConsecutive pancreatic cancer (PC) patients with and without PCDM (n = 88 each) with complete information were included. Cachexia was defined as weight loss >5% within 6 months or weight loss >2% and body mass index <20 kg/m2 or sarcopenia. Skeletal muscle mass was measured with lumbar skeletal muscle index (SMI) using computed tomography images. Cachexia‐related parameters (prevalence of cachexia, weight loss, and SMI) were compared between patients with and without PCDM. Relations between cachexia‐related parameters and fasting blood glucose or serum levels of galectin‐3 and S100A9 were analysed by Spearman correlation and logistic regression analyses.ResultsOne hundred two (58.0%) patients had cachexia at diagnosis. No significant differences existed between patients with and without PCDM in prevalence of cachexia (64.8% vs. 51.1%, P = 0.093), percentage of weight loss (median 6.8 vs. 4.0, P = 0.085), and SMI (median 45.8 vs. 45.3 cm2/m2 in men, P = 0.119; 34.9 vs. 36.3 cm2/m2 in women, P = 0.418). In patients with cachexia, the percentage of weight loss and SMI were also similar between patients with and without PCDM. In patients with PCDM, fasting blood glucose was comparable between patients with and without cachexia (P = 0.458) and did not correlate with the percentage of weight loss (P = 0.085) or SMI (P = 0.797 in men and 0.679 in women). Serum S100A9 level correlated with fasting blood glucose (correlation coefficient 0.213, P = 0.047) but not with the percentage of weight loss (P = 0.977) or SMI (P = 0.247 in men and 0.458 in women). Serum galectin‐3 level also did not correlate with the percentage of weight loss (P = 0.226) and SMI (P = 0.201 in men and 0.826 in women). Primary tumour size was associated with cachexia (adjusted odds ratio per 1 cm increase 1.28, 95% confidence interval 1.02–1.60, P = 0.034), whereas PCDM, fasting blood glucose, and levels of galectin‐3 and S100A9 were not predictors of cachexia.ConclusionsNeither fasting blood glucose nor levels of galectin‐3 and S100A9 were associated with cachexia‐related parameters. Mediators of PCDM and hyperglycaemia do not directly mediate PC‐induced cachexia.
Detection of TERT promoter mutation in serum cell‐free DNA using wild‐type blocking PCR combined with Sanger sequencing in hepatocellular carcinoma
Authors: Akuta Norio , Suzuki Fumitaka , Kobayashi Mariko , Fujiyama Shunichiro , Kawamura Yusuke , Sezaki Hitomi , Hosaka Tetsuya , Kobayashi Masahiro , Saitoh Satoshi , Arase Yasuji , Ikeda Kenji , Suzuki Yoshiyuki , Kumada Hiromitsu 
Published: February 2020

AbstractTelomerase reverse transcriptase (TERT) promoter mutation is the most frequent genetic alteration in hepatocellular carcinoma (HCC). However, there is currently no suitable highly sensitive method that can detect such mutation using serum cell‐free DNA (cfDNA). We analyzed somatic point mutations that substitute cytosine for thymidine at position 228 (C228T), as one of the hotspots of TERT promoter mutations, in serum cfDNA using a highly sensitive detection method of wild‐type blocking polymerase chain reaction (WTB‐PCR) combined with Sanger sequencing. In TERT promoter mutation sensitivity study, synthetic oligonucleotides were prepared to determine the lowest detection limit of the WTB‐PCR, using serial dilutions of mutant‐type (MT) DNA in the background of wild‐type (WT) DNA. Using this technique, we conducted a longitudinal study in one patient who developed HCC during the follow‐up and determined the relationship between HCC and TERT C228T in serum cfDNA. In the sensitivity study, the mutant peak at position 228 was detected at 0.7% or higher but was not detected at 0.6%. Thus, sequencing analysis of WTB‐PCR product demonstrated the limit of detection in excess of 0.7% MT DNA in the background of WT DNA. One male patient with HCV‐related cirrhosis developed HCC during the follow‐up. TERT C228T was negative before the diagnosis of HCC, positive at the diagnosis of HCC and did not increase with advancement of malignancy. We developed a highly sensitive method for detection of TERT promoter mutation using WTB‐PCR combined with Sanger sequencing and demonstrated its clinical usefulness in the measurement of TERT C228T in serum cfDNA. Larger studies are needed to confirm these results and establish the clinical utility of this new method.
Identification of Icelandic tephras from the last two millennia in the White Sea region (Vodoprovodnoe peat bog, northwestern Russia)
Authors: Vakhrameeva Polina , Portnyagin Maxim , Ponomareva Vera , Abbott Peter M. , Repkina Tatiana , Novikova Anna , Koutsodendris Andreas , Pross Jörg 
Published: February 2020

ABSTRACTThe generation of reliable age models for palaeoenvironmental and archaeological records in the Eurasian Arctic is often problematic when using conventional dating techniques. Tephrochronology can potentially improve the chronologies of such records and synchronise disparate sedimentary archives. However, to date, systematic tephra studies are lacking for this region. This paper presents the first cryptotephra data from the White Sea region (northwestern Russia) based on a peat core spanning the past ~1800 years. We identify seven geochemical glass populations that derive from six Icelandic volcanoes and correlate four of them to north European tephra isochrons; these include Askja ad 1875, the basaltic component of the ad 877 Landnám tephra, and tephras BTD‐15 (c. ad 1750–1650) and SL‐2/SB‐2 (ad 803–767) from unknown eruptions of Katla and Snæfellsjökull, respectively. The remaining three populations originate from Grímsvötn, Hekla and Katla; however, their attribution to individual eruptions remains ambiguous. These findings highlight the potential to extend the Late Holocene tephrochronological framework of northern Europe to the west Eurasian Arctic. The detection of at least three basaltic tephras in the core suggests that basaltic shards can be transported over larger distances than previously known and that peatlands are well suited to preserve such components.
Effect of endoscopic endonasal skull base surgery on snoring
Authors: Kim Do Hyun , Lee Min Hyeong , Lee Jaeyoon , Kim Sung Won 
Published: February 2020

AbstractBackgroundAs the number of endoscopic skull base surgeries has increased, postoperative changes in quality of life require attention, including evaluation of whether snoring symptoms change.ObjectiveTo investigate the effect of endoscopic endonasal skull base surgery on snoring and nasal symptom scores.MethodsBetween February 2009 and September 2018, 510 patients underwent skull base tumor resection via an endoscopic endonasal approach and were included in this study. Nasal symptoms were scored using the Nasal Obstruction Symptoms Evaluation (NOSE) scale and snoring symptoms were subjectively scored from 0 to 10 by partners using a visual analog scale (VAS). Computational fluid dynamics (CFD) was employed for pilot patient analysis.ResultsA pituitary adenoma was the most common surgical pathology encountered over the past 10 years (81.6% of all tumors). The NOSE scores increased significantly after surgery (pre‐surgery, 3.28 ± 3.18; post‐surgery, 4.09 ± 3.61; P < .001). The snoring VAS score decreased significantly postoperatively (pre‐surgery, 2.91 ± 2.74; post‐surgery, 2.43 ± 2.45; P < .001). A positive correlation was apparent between the NOSE and snoring score changes (r = 0.374; P < .001).ConclusionsSnoring improved after endoscopic endonasal skull base surgery, associated with changes in nasal symptoms.Level of Evidence4.
Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly
Authors: Meier Nicole , Bruder Elisabeth , Miny Peter , Tercanli Sevgi , Filges Isabel 
Published: February 2020

AbstractBackgroundAgnathia‐otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as skeletal and limb development, were identified to be causal for the anomaly in a few patients.MethodsFamily‐based exome sequencing (ES) on a fetus with severe agnathia‐otocephaly, cheilognathopalatoschisis, laryngeal hypoplasia, fused lung lobes and other organ abnormalities and mRNA expression analysis were performed.ResultsExome sequencing detected a de novo SMAD3 missense variant in exon 6 (c.860G>A) associated with decreased mRNA expression. Variants in SMAD3 cause Loeys–Dietz syndrome 3 presenting with craniofacial anomalies such as mandibular hypoplasia, micro‐ or retro‐gnathia, bifid uvula and cleft palate as well as skeletal anomalies and arterial tortuosity.The SMAD3 protein acts as a transcriptional regulator in the transforming growth factor β (TGFB) and bone morphogenetic (BMP) signaling pathways, which play a key role in the development of craniofacial structures originating from the pharyngeal arches.ConclusionAgnathia‐otocephaly with or without associated anomalies may represent the severe end of a phenotypic spectrum related to variants in genes in the interacting SMAD/TGFB/BMP/SHH/FGF developmental pathways.
Relational Galois connections between transitive fuzzy digraphs
Authors: Cabrera Inma P. , Cordero Pablo , Muñoz‐Velasco Emilio , Ojeda‐Aciego Manuel , De Baets Bernard 
Published: February 2020

Fuzzy‐directed graphs are often chosen as the data structure to model and implement solutions to several problems in the applied sciences. Galois connections have also shown to be useful both in theoretical and in practical problems.In this paper, the notion of relational Galois connection is extended to be applied between transitive fuzzy directed graphs. In this framework, the components of the connection are crisp relations satisfying certain reasonable properties given in terms of the so‐called full powering.
Objective measurement of attention deficit hyperactivity disorder symptoms outside the clinic using the QbCheck: Reliability and validity
Authors: Ulberstad Fredrik , Boström Hans , Chavanon Mira‐Lynn , Knollmann Martin , Wiley James , Christiansen Hanna , Thorell Lisa B. 
Published: February 2020

AbstractObjective measurements of ADHD symptom levels can be a highly valuable complement to ratings. However, sometimes it is not feasible to bring patients into the clinic/lab for assessment. The aim of the present study was therefore to evaluate the psychometric properties of the QbCheck, an online computerized test that measures errors and reaction time as well as activity during testing using the computer's built‐in web camera. Study I (n = 27 adolescents/adults) investigated test–retest reliability and concurrent validity of the QbCheck. Study II included 142 adolescents/adults (69 with ADHD/73 controls) and investigated convergent and diagnostic validity, as well as usability, of the QbCheck. In Study I, the QbCheck showed high test–retest reliability and high concurrent validity. In Study II, high convergent validity was observed when studying associations between the QbCheck performed in the home and the QbTest performed at the clinic. In addition, the QbCheck discriminated well between patients with ADHD and controls, with a sensitivity of 82.6 and a specificity of 79.5. The QbCheck appears to be a valuable test with good psychometric properties and will thereby enable assessment of ADHD symptom levels in adolescents and adults outside the clinic in the home setting.
Solubilization of silica nanoparticles in alkanes and poly(α‐olefin)s by functionalized polyisobutylene oligomers
Authors: Rosenfeld Neil , Chao Chih‐Gang , Watson Christopher B. , Kumar Manyam P. , Madrahimov Sherzod T. , Bergbreiter David E. 
Published: February 2020

AbstractCovalent and noncovalent chemical methods that use oligomeric lipophilic agents to solubilize silica nanoparticles in heptane and poly(α‐olefin) (EPAO) solvents are described. While only modest solubilization efficiencies are seen with an octadecyl group, a variety of terminally functionalized polyisobutylene (PIB) derivatives are more efficient. Both covalent and noncovalent chemistry was found to be effective. Covalent modification solubilized up to 34 wt% of silica nanoparticles (SiNPs) as stable solutions in heptane or PAOs. Noncovalent modification was however more effective, solubilizing up to 70% of SiNPs in heptane or PAOs. The most successful covalent approach used PIB oligomers containing terminal triethoxysilane groups to covalently modify SiNPs. Alternatively, SiNPs that were first functionalized with amine groups could be solubilized in heptane or PAOs with polyisobutylene containing sulfonic acid groups using acid–base chemistry. Studies of these and other solubilization chemistry was also carried out using fluorescent labels, studies that confirmed the gravimetric analyses of the heptane‐solubilized SiNPs. Transmission electron microscopy of a PAO solution of these solutions showed that these SiNPs were present as small aggregates dispersed in the PAOs.
Synthesis of partially bio‐based triepoxides from naturally occurring myo‐inositol and their polyadditions
Authors: Shimokawaji Tomohiro , Sudo Atsushi 
Published: February 2020

AbstractPartially bio‐based triepoxides, 1,3,5‐tri‐O‐methyl‐2,4,6‐tri‐O‐(oxiran‐2‐yl‐methyl)‐myo‐inositol (4) and 2,4,6‐tri‐O‐(oxiran‐2‐yl‐methyl)‐myo‐inositol 1,3,5‐orthoacetate (5), were synthesized from naturally occurring myo‐inositol. These two triepoxides differ from each other in terms of rigidity of the core structure; while the former triepoxide has a more flexible cyclohexane core, the latter has a highly rigid adamantane‐like orthoester core. Triepoxide 5 readily reacted with nucleophilic monomers such as diamines, dithiol, and trithiol to yield networked polymers. The glass transition temperatures (Tgs) of these polymers were higher than those of comparable networked polymers obtained by the polyaddition of triepoxide 4 with the same nucleophilic monomers, implying that the rigidity of the orthoester moiety contributed to the efficient restriction of the polymer chain in the synthesized networked polymers.