bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical manifestation and genetic analysis in Chinese early onset X‐linked retinoschisis
Authors: Huang Li , Sun Limei , Wang Zhirong , Chen Chonglin , Wang Panfeng , Sun Wenmin , Luo Xiaoling , Ding Xiaoyan 
Published: July 2020

AbstractBackgroundX‐linked retinoschisis (XLRS) is one type of retinal dystrophy leading to the schisis of the neural retina and causing reduced visual acuity. The study aimed to investigate the clinical manifestations and retinoschisin 1 (RS1) mutations in Chinese patients with early onset XLRS.MethodsThirty‐eight probands with early onset XLRS were recruited, comprehensive ophthalmic examination was performed. A targeted gene panel was used to test the RS1 mutations.ResultsAll probands had RS1 hemizygous mutations including 16 known and 14 novel mutations. The median onset age was 2 years old (range 0.1–6 years). Probands with onset age ≤1 years. had more complications (retinal detachment and vitreous hemorrhage, p < 0.001), more mutations outside the discoidin domain and more non‐frameshift mutations than probands with onset age >1 years. Macular and peripheral involvement was present in 77.27% of probands, and inner and outer nuclear layer splitting were present in 53.57% of probands. Electroretinography showed an electronegative waveform. The relatively rare phenotypes of lamellar macular hole and macular hole were present in a unilateral eye in three probands.ConclusionIn conclusion, the early onset XLRS developed more severe complications which need close monitoring and clinical manifestations illustrated here may facilitate the early diagnosis of retinoschisis.
Novel artifact‐robust and highly visible zinc solid fiducial marker for kilovoltage x‐ray image‐guided radiation therapy
Authors: Wang Tianyuan , Inubushi Sachiko , Ikeo Naoko , Mukai Toshiji , Okumura Keisuke , Akasaka Hiroaki , Yada Ryuichi , Yoshida Kenji , Miyawaki Daisuke , Ishihara Takeaki , Nakaoka Ai , Sasaki Ryohei 
Published: July 2020

PurposeTo develop a novel biocompatible solid fiducial marker that prevents radiopaque imaging artifacts and also maintains high imaging contrast for kilovoltage x‐ray image‐guided radiation therapy.MethodsThe fiducial marker was made of pure zinc. An in‐house water‐equivalent phantom was designed to evaluate artifacts and visibility under various simulated treatment scenarios. Image artifacts were quantitatively assessed in terms of the metal artifact index (MAI) on kilovoltage computed tomography (CT) and cone‐beam CT (CBCT) scans. Marker visibility was evaluated on two types of kilovoltage planar x‐ray images in terms of the contrast‐to‐background ratio (CBR). Comparisons with a conventional gold fiducial marker were conducted.ResultsThe use of zinc rather than a gold marker mitigates imaging artifacts. The MAI near the zinc marker decreased by 76, 79, and 77 % in CT, and by 77 (81), 74 (80), and 79 (85) % in CBCT full‐fan (half‐fan) scans, when using one‐, two‐, and three‐marker phantom settings, respectively. The high‐contrast part of the zinc marker exhibited CBRs above 2.00 for 28/32 exposures under four (lung, tissue, low‐density bone, and high‐density bone) different simulation scenarios, making its visibility comparable to that of the gold marker (30/32 exposures with CBRs > 2.00).ConclusionsWe developed a biocompatible, artifact‐robust, and highly visible solid zinc fiducial marker. Although further evaluation is needed in clinical settings, our findings suggest its feasibility and benefits for kilovoltage x‐ray image‐guided radiation therapy.
3D free‐breathing cardiac magnetic resonance fingerprinting
Authors: Cruz Gastão , Jaubert Olivier , Qi Haikun , Bustin Aurélien , Milotta Giorgia , Schneider Torben , Koken Peter , Doneva Mariya , Botnar René M. , Prieto Claudia 
Published: July 2020

PurposeTo develop a novel respiratory motion compensated three‐dimensional (3D) cardiac magnetic resonance fingerprinting (cMRF) approach for whole‐heart myocardial T1 and T2 mapping from a free‐breathing scan.MethodsTwo‐dimensional (2D) cMRF has been recently proposed for simultaneous, co‐registered T1 and T2 mapping from a breath‐hold scan; however, coverage is limited. Here we propose a novel respiratory motion compensated 3D cMRF approach for whole‐heart myocardial T1 and T2 tissue characterization from a free‐breathing scan. Variable inversion recovery and T2 preparation modules are used for parametric encoding, respiratory bellows driven localized autofocus is proposed for beat‐to‐beat translation motion correction and a subspace regularized reconstruction is employed to accelerate the scan. The proposed 3D cMRF approach was evaluated in a standardized T1/T2 phantom in comparison with reference spin echo values and in 10 healthy subjects in comparison with standard 2D MOLLI, SASHA and T2‐GraSE mapping techniques at 1.5 T.Results3D cMRF T1 and T2 measurements were generally in good agreement with reference spin echo values in the phantom experiments, with relative errors of 2.9% and 3.8% for T1 and T2 (T2 < 100 ms), respectively. in vivo left ventricle (LV) myocardial T1 values were 1054 ± 19 ms for MOLLI, 1146 ± 20 ms for SASHA and 1093 ± 24 ms for the proposed 3D cMRF; corresponding T2 values were 51.8 ± 1.6 ms for T2‐GraSE and 44.6 ± 2.0 ms for 3D cMRF. LV coefficients of variation were 7.6 ± 1.6% for MOLLI, 12.1 ± 2.7% for SASHA and 5.8 ± 0.8% for 3D cMRF T1, and 10.5 ± 1.4% for T2‐GraSE and 11.7 ± 1.6% for 3D cMRF T2.ConclusionThe proposed 3D cMRF can provide whole‐heart, simultaneous and co‐registered T1 and T2 maps with accuracy and precision comparable to those of clinical standards in a single free‐breathing scan of about 7 min.
Testing the damage caused by a golden eagle (Aquila chrysaetos) on a primate skull: A taphonomic case study of the bone damage observed after a simulated predatory attack
Authors: Rufà Anna , Alonso Goizane , Blasco Ruth , Cueto Marián , Camarós Edgard 
Published: July 2020

AbstractThe present case study proposes an experimental approach to the taphonomic characterization of modifications that are produced on bone surfaces by eagles during the attack and capture of their prey. Under these circumstances, a golden eagle (Aquila chrysaetos) attack on a Barbary macaque (Macaca sylvanus) skull was simulated. The macaque specimen was analysed from a taphonomic perspective, which allowed for the comparison of traces left on the skull against the data that have already been published on past and present primate attacks by eagles. The results of the experiment confirmed the presence of some modifications that were similar to the damage described in the literature for specific palaeoanthropological specimens. However, the number of alterations observed was much lower because the attack was restricted to a single event, with the aim being to isolate the specific predatory attack damage. This kind of experiment demonstrates how experimental archaeology can be a useful tool for replicating past scenarios by using rigorous scientific methods, testing hypotheses and interpreting archaeological assemblages.
Deposition of modified human remains as evidence for complex mortuary treatment in East Africa during the first millenniumAD
Authors: Watts Rebecca , Mugabowagahunde Maurice , Ntagwabira André , Giblin John 
Published: July 2020

AbstractIn 2019 partial, disarticulated human remains with evidence of perimortem fractures and tool marks were excavated from the site of Kabusanza in southern Rwanda (first millenniumAD). The nature and location of these modifications demonstrate that some elements were subject to intentional dismemberment and defleshing, whereas the arrangement of the remains in the burial feature indicates that natural skeletonization had also occurred before final deposition. Human remains with similar patterns of modification and deposition have previously been recovered from the same site, and here we consider the potential behaviours that may have produced this suite of evidence. By comparing the remains with assemblages that have been produced through violence and through ritual activity, we demonstrate that the evidence from Kabusanza is more consistent with complex, multistage mortuary practices than other forms of processing. This may have involved some initial reduction of the body, followed by the retention or circulation of the disarticulated remains before their eventual deposition.
Lagenaria siceraria and it's bioactive constituents in carbonic anhydrase inhibition: A bioactivity guided LC–MS/MS approach
Authors: Chanda Joydeb , Mukherjee Pulok K. , Biswas Rajarshi , Singha Seha , Kar Amit , Haldar Pallab Kanti 
Published: July 2020

AbstractIntroductionLagenaria siceraria, is a popular food plant among Indians, contains a large number of phenolic compounds with several medicinal benefits, mentioned in Indian System of Medicine (ISM).ObjectivesTo investigate the carbonic anhydrase inhibitory potential and inhibitory mechanism of the most potent fraction of L. siceraria fruits.Materials and MethodsThe extract and fraction of dried fruit of L. siceraria screened for their in vitro carbonic anhydrase II (bCA II) inhibitory activity. The active fraction was purified by using flash chromatography. The bioactive compounds were identified and quantified through liquid chromatography quadrupole time‐of‐flight tandem mass spectrometry (LC‐QTOF‐MS/MS) and reverse‐phase high‐performance liquid chromatography (RP‐HPLC). Finally, the underlying carbonic anhydrase inhibitory mechanism of the compounds was explained by enzyme kinetics and molecular docking study.ResultsThe LC‐QTOF‐MS based identification of the most active fraction revealed the presence of phenolic compounds. The results of the enzyme inhibition assay revealed that coniferyl alcohol, ferulic acid and p‐Coumaric acid inhibited bCA II activity [half maximal inhibitory concentration (IC50) value range of 80 to 250 μM) in a dose dependent manner. The kinetics study of enzyme inhibition revealed that p‐Coumaric acid binds to the enzyme competitively whereas the non‐competitive type of inhibition was observed for ferulic acid and coniferyl alcohol. The molecular docking study explored the interaction mechanism of phenolic compounds at the active site of bCA II.ConclusionThe present research led us to conclude that, the phenolic compounds from L. siceraria serve as major contributors for carbonic anhydrase inhibition, which could play a useful role in the management of oedema, hypertension, obesity and related metabolic disorders.
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies
Authors: Persico Nicola , Boito Simona , Volpe Paolo , Ischia Benedetta , Gentile Mattia , Ronzoni Luisa , De Robertis Valentina , Fabietti Isabella , Olivieri Claudiana , Periti Enrico , Ficarella Romina , Silipigni Rosamaria , Rembouskos Georgios 
Published: July 2020

AbstractObjectiveTo examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cfDNA test for common trisomies.MethodsIn 486 singleton pregnancies undergoing invasive testing after combined screening, a detailed first trimester ultrasound assessment was carried out and a maternal blood sample was sent for cfDNA analysis. Ultrasound and cfDNA data were analyzed in relation to fetal karyotype.ResultsInvasive testing demonstrated a chromosomal abnormality in 157 (32.3%) of 486 fetuses. In 348 cases with a low‐risk cfDNA test for common trisomies, NT ≥ 3.5 mm and/or a major structural defect were observed in 92 (26.4%) fetuses. A chromosomal abnormality was found in 17 (18.5%; 95%CI 10.55‐26.41) of these pregnancies, including 1 (1.1%) case of trisomy 21 and 16 (17.4%) fetuses with abnormalities different from common trisomies. The respective incidence in the 256 cases with a low‐risk cfDNA test result and no ultrasound anomalies was 2.3% (95% CI 0.49‐4.20; n = 6).ConclusionsIn fetuses with first trimester ultrasound anomalies and a low‐risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies.
Impact of cell‐free DNA screening on parental knowledge of fetal sex and disorders of sex development
Authors: Sofer Laurel , D'Oro Anthony , Rosoklija Ilina , Leeth Elizabeth A. , Goetsch Allison L. , Moses Scott , Chen Diane , Finlayson Courtney , Johnson Emilie K. 
Published: July 2020

AbstractObjectiveDiscrepancies between cfDNA and ultrasound predicted fetal sex occur, possibly indicating disorders/differences of sex development (DSDs). Among expectant/recent parents, this study assessed cfDNA knowledge/use, fetal sex determination attitudes/behaviors, general knowledge of DSD, and possible psychological impact of discrepancy between fetal sex on cfDNA and ultrasound.MethodParents were surveyed about fetal sex determination methods, knowledge of cfDNA and DSD, distress related to possible cfDNA inaccuracy.ResultsOf 916 respondents, 44% were aware of possible discrepancy between cfDNA and ultrasound, 22% were aware of DSD. 78% and 75% would be upset and worried, respectively, with results showing fetal sex discrepancy. Most (67%) revealed predicted fetal sex before delivery. 38% were offered cfDNA. Of those revealing fetal sex, 24% used cfDNA results, 71% ultrasound, and 7% both. cfDNA users were more frequently aware of possible discrepancy between cfDNA and ultrasound (76% vs 41%, P < .0001), but not of DSD (29% vs 23%, P = .29).ConclusionFetal sex determination is favored, and cfDNA is frequently used for predicting fetal chromosomal sex. Many parents are unaware of possible discrepancies between cfDNA and ultrasound, and potential for DSD. Most would be distressed by discordant results. Accurate counseling regarding limitations cfDNA for fetal sex determination is needed.
Solution to the perturbation of LIF measurements via photodissociation, OH measurement in atmospheric‐pressure multihollow DBD
Authors: Dvořák Pavel , Procházka Vojtěch , Krumpolec Richard , Zemánek Miroslav 
Published: July 2020

AbstractThis study solves the problem of the invasivity of laser‐induced fluorescence (LIF) measurements caused by photodissociation. It is shown with the example of OH LIF that the excess signal caused by laser‐induced photodissociation can be distinguished from the true LIF signal of the naturally presented species by its different dependence on the energy of laser pulses. This fact can be further used for the detection of photodissociable species not accessible by the standard LIF. This method is applied to OH radicals in atmospheric‐pressure multihollow dielectric barrier discharge plasma ignited in a number of holes. OH radicals are concentrated at the effluents of these holes, but they are able to spread to a distance of 5 mm, meaning that the discharge is suitable for the treatment of distant and rough surfaces.
High‐resolution structure of a partially folded insulin aggregation intermediate
Authors: Ratha Bhisma N. , Kar Rajiv K. , Brender Jeffrey R. , Pariary Ranit , Sahoo Bankanidhi , Kalita Sujan , Bhunia Anirban 
Published: July 2020

AbstractInsulin has long been served as a model for protein aggregation, both due to the importance of aggregation in the manufacture of insulin and because the structural biology of insulin has been extensively characterized. Despite intensive study, details about the initial triggers for aggregation have remained elusive at the molecular level. We show here that at acidic pH, the aggregation of insulin is likely initiated by a partially folded monomeric intermediate. High‐resolution structures of the partially folded intermediate show that it is coarsely similar to the initial monomeric structure but differs in subtle details—the A chain helices on the receptor interface are more disordered and the B chain helix is displaced from the C‐terminal A chain helix when compared to the stable monomer. The result of these movements is the creation of a hydrophobic cavity in the center of the protein that may serve as nucleation site for oligomer formation. Knowledge of this transition may aid in the engineering of insulin variants that retain the favorable pharamacokinetic properties of monomeric insulin but are more resistant to aggregation.
The smallest eating the largest: the oldest mammalian feeding traces on dinosaur bone from the Late Jurassic of the Junggar Basin (northwestern China)
Authors: Augustin Felix J. , Matzke Andreas T. , Maisch Michael W. , Hinz Juliane K. , Pfretzschner Hans-Ulrich 
Published: July 2020

AbstractReconstructing trophic interactions in ancient ecosystems is an important and fascinating branch of palaeontological research. Here we describe small bioerosional traces that are preserved on sauropod bone from the early Late Jurassic Qigu Formation (Oxfordian) of Liuhuanggou gorge in the southern Junggar Basin (Xinjiang Province, northwestern China). The most likely producers of these traces are tiny Mesozoic mammals as evinced by the small size of the traces as well as by their paired and opposed arrangement. The feeding traces are only superficially preserved on the bone surface and most likely were inflicted unintentionally during feeding. The occurrence of the bite marks along small ridges and the “gnawed” appearance of the bone surface points to selective feeding on the remaining soft tissues of the dinosaur carcass. The traces represent the oldest direct evidence for mammalian feeding behaviour in the fossil record. Additionally, these traces expand the known range of the early mammalian feeding repertoire significantly and shed light on the palaeobiology and palaeoecology of early mammals, a field that has remained evasive for a long time.
Effect of sweeteners and storage on compositional and sensory properties of blackberry jams
Authors: Benedek Csilla , Bodor Zsanett , Merrill Vanda Tímea , Kókai Zoltán , Gere Attila , Kovacs Zoltan , Dalmadi István , Abrankó László 
Published: July 2020

AbstractSweeteners of natural sources, such as sugar alcohols, are in the centre of growing interest. Their impact on the phytochemicals, antioxidant and sensory properties of blackberry jams were investigated during a 9-months storage period. Measurements on jams prepared with different sugars and sugar alcohols (sucrose, fructose, xylitol and erythritol) were performed at the date of preparation and in the 1st, 3rd, 6th, 9th month.Total polyphenol content, individual polyphenols, antioxidant properties, anthocyanin content and CIEL*a*b* colour were determined. Sensory profiles were determined by a trained panel. Sensory attributes were compared by the results of the electronic tongue and nose.Sweeteners had a significant impact on physicochemical properties and sensory attributes. Storage time also affected the sensory and compositional properties of jams. Changes in antioxidant properties did not follow a clear trend during the storage period, and antioxidant capacity was not affected significantly by the sweetening agent, but showed a significant decline from the 6th month. A positive effect of xylitol was observed in terms of a low degradation rate of anthocyanins, while their decomposition was the fastest in the fructose-containing preparation. Jams sweetened with erythritol reached significantly lower values for some sensory attributes (blackberry flavour and general taste intensity), however, they showed more intense red colour. Multiple factor analysis enabled the identification of the effect of sweetener and storage time on the pattern of the sensory data matrix. Classification according to individual sweeteners was performed successfully by the electronic tongue, but not by electronic nose.
A brief bout of exercise in hypoxia reduces ventricular filling rate and stroke volume response during muscle metaboreflex activation
Authors: Mulliri Gabriele , Magnani Sara , Roberto Silvana , Sechi Fabio , Ghiani Giovanna , Sainas Gianmarco , Nughedu Giorgio , Hosseini Kakhak Seyed Alireza , Bassareo Pier Paolo , Crisafulli Antonio 
Published: July 2020

Abstract
Purpose
The hemodynamic consequences of exercise in hypoxia have not been completely investigated. The present investigation aimed at studying the hemodynamic effects of contemporary normobaric hypoxia and metaboreflex activation.

Methods
Eleven physically active, healthy males (age 32.7 ± 7.2 years) completed a cardiopulmonary test on an electromagnetically braked cycle-ergometer to determine their maximum workload (Wmax). On separate days, participants performed two randomly assigned exercise sessions (3 minutes pedalling at 30% of Wmax): (1) one in normoxia (NORMO), and (2) one in normobaric hypoxia with FiO2 set to 13.5% (HYPO). After each session, the following protocol was randomly assigned: either (1) post-exercise muscle ischemia (PEMI) to study the metaboreflex, or (2) a control exercise recovery session, i.e., without metaboreflex activation. Hemodynamics were assessed with impedance cardiography.

Results
The main result was that the HYPO session impaired the ventricular filling rate (measured as stroke volume/diastolic time) response during PEMI versus control condition in comparison to the NORMO test (31.33 ± 68.03 vs. 81.52 ± 49.23 ml·s−1,respectively, p = 0.003). This caused a reduction in the stroke volume response (1.45 ± 9.49 vs. 10.68 ± 8.21 ml, p = 0.020). As a consequence, cardiac output response was impaired during the HYPO test.

Conclusions
The present investigation suggests that a brief exercise bout in hypoxia is capable of impairing cardiac filling rate as well as stroke volume during the metaboreflex. These results are in good accordance with recent findings showing that among hemodynamic modulators, ventricular filling is the most sensible variable to hypoxic stimuli.
Aberrant DNA methylation results in altered gene expression in non-alcoholic steatohepatitis-related hepatocellular carcinomas
Authors: Tian Ying , Arai Eri , Makiuchi Satomi , Tsuda Noboru , Kuramoto Junko , Ohara Kentaro , Takahashi Yoriko , Ito Nanako , Ojima Hidenori , Hiraoka Nobuyoshi , Gotoh Masahiro , Yoshida Teruhiko , Kanai Yae 
Published: July 2020

Abstract
Purpose
The aim of this study was to investigate DNA methylation alterations in non-alcoholic steatohepatitis (NASH)-related hepatocellular carcinomas (HCCs).

Methods
Genome-wide DNA methylation analysis was performed using the Infinium Human Methylation 450 K BeadChip, and levels of mRNA expression were analyzed by quantitative reverse transcription-PCR.

Results
Compared to 36 samples of normal control liver tissue (C), DNA methylation alterations were observed on 19,281 probes in 22 samples of cancerous tissue (T) obtained from patients showing histological features compatible with NASH in their non-cancerous liver tissue (N). Among those probes, 1396 were located within CpG islands or their shores and shelves, designed around the transcription start sites of 726 genes. In representative genes, such as DCAF4L2, CKLF, TRIM4, PRC1, UBE2C and TUBA1B, both DNA hypomethylation and mRNA overexpression were observed in T samples relative to C samples, and the levels of DNA methylation and mRNA expression were inversely correlated with each other. DNA hypomethylation occurred even in N samples at the precancerous NASH stage, and this was inherited by or further strengthened in T samples. DNA hypomethylation of DCAF4L2, CKLF and UBE2C was observed in both NASH-related and viral hepatitis-related HCCs, whereas that of TRIM4, PRC1 and TUBA1B occurred in a NASH-related HCC-specific manner. DNA hypomethylation and/or mRNA overexpression of these genes was frequently associated with the necroinflammatory grade of NASH and was correlated with poorer tumor differentiation.

Conclusion
DNA methylation alterations may occur under the necroinflammatory conditions characteristic of NASH and participate in NASH-related hepatocarcinogenesis through aberrant expression of tumor-related genes.