bluuebunny/crossref_metadata_2025_split huggingface dataset:
Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
Authors: Casas‐Alba Dídac , López‐Sala Laura , Pérez‐Ordóñez Marta , Mari‐Vico Rosanna , Bolasell Mercè , Martínez‐Monseny Antonio F. , Muchart Jordi , Fernández‐Fernández José M. , Martorell Loreto , Serrano Mercedes 
Published: October 2020

AbstractEarly‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de novo CACNA1G gain‐of‐function pathogenic variants. All patients with SCA42ND show cerebellar atrophy and/or hypoplasia on neuroimaging and share common features such as dysmorphic features, global developmental delay, and axial hypotonia, all manifesting within the first year of life. To date, only 10 patients with SCA42ND have been reported with functionally confirmed gain‐of‐function variants, bearing either of two recurrent pathogenic variants. We describe a girl with congenital ataxia, without epilepsy, and a de novo p.Ala961Thr pathogenic variant in CACNA1G. We review the published subjects with the aim of better characterizing the dysmorphic features that may be crucial for clinical recognition of SCA42ND. Cerebellar atrophy, together with digital anomalies, particularly broad thumbs and/or halluces, should lead to clinical suspicion of this disease. We describe the first pharmacological attempt to treat a patient with SCA42ND using zonisamide, an antiepileptic drug with T‐type channel blocker activity, in an off‐label indication using an itemized study protocol. No efficacy was observed at the dose tested. However, without pharmacological treatment, she showed a positive evolution in neurodevelopment during the follow‐up.
Biomarkers of fetal conditions: Finger ridge‐counts, facial fluctuating asymmetry, and digit ratio (2D:4D)—are they correlated in women?
Authors: Klimek Magdalena , Galbarczyk Andrzej , Nenko Ilona , Jasienska Grazyna 
Published: October 2020

AbstractObjectivesFetal environmental conditions are crucial for life‐long health. Direct measurements of developmental conditions are limited in humans; thus, several biomarkers of those conditions have been proposed: that is, finger ridge‐counts, level of facial fluctuating asymmetry (FA), and digit ratio (2D:4D). Since all of these biomarkers share a similar gestational time of formation, we hypothesize that their values are significantly correlated.Materials and methodsData were collected at the Mogielica Human Ecology Study Site in southern Poland among 234 women. Finger ridge‐counts, level of facial FA, and 2D:4D have been measured. The two‐step analyses included Pearson's correlations of simple values of the biomarkers and correlations of composite variables calculated based on principal component analysis.ResultsWe did not find any statistically significant correlations between finger ridge‐counts, FA, and 2D:4D in women. Similarly, we did not observe any correlations between three composites created from the biomarkers.DiscussionOur results indicate that there are no relationships between the biomarkers, suggested as proxies of the quality of prenatal conditions, in a single population. This is the first study analyzing three different markers simultaneously. The lack of correlations may indicate that the tested biomarkers reflect, in fact, different environmental conditions, occurring in separate “critical windows” of development, or that the biomarkers are not valid as proxies of developmental conditions.
A targeted sequence capture array for phylogenetics and population genomics in the Salicaceae
Authors: Sanderson Brian J. , DiFazio Stephen P. , Cronk Quentin C. B. , Ma Tao , Olson Matthew S. 
Published: October 2020

PremiseThe family Salicaceae has proved taxonomically challenging, especially in the genus Salix, which is speciose and features frequent hybridization and polyploidy. Past efforts to reconstruct the phylogeny with molecular barcodes have failed to resolve the species relationships of many sections of the genus.MethodsWe used the wealth of sequence data in the family to design sequence capture probes to target regions of 300–1200 bp of exonic regions of 972 genes.ResultsWe recovered sequence data for nearly all of the targeted genes in three species of Populus and three species of Salix. We present a species tree, discuss concordance among gene trees, and present population genomic summary statistics for these loci.ConclusionsOur sequence capture array has extremely high capture efficiency within the genera Populus and Salix, resulting in abundant phylogenetic information. Additionally, these loci show promise for population genomic studies.
Osteohistology and microanatomy of a new specimen of Cearachelys placidoi (Testudines: Pleurodira) a side‐necked turtle from the lower Cretaceous of Brazil
Authors: Sena Mariana Valéria de Araújo , Bantim Renan Alfredo Machado , Saraiva Antônio Álamo Feitosa , Sayão Juliana Manso , Oliveira Gustavo Ribeiro 
Published: October 2020

AbstractPelomedusoides had a recognised diverse Early Cretaceous fauna of turtles in Northeast Brazil. Within them, the bothremydid Cearachelys placidoi has a relatively abundant record. This diversity contrasts with the scarcity of osteohistological studies in this group. The relatively well‐preserved shell of C. placidoi (UFRPE 5600), from the Aptian age of Araripe Basin, is studied here for the purpose of filling this gap. We performed the osteohistological description of the plastron of a new specimen of C. placidoi. Also, to conduct a comparative study, we carried out histological sections in bones of the recent chelid Phrynops sp. Our histological findings indicate similarities between the histological pattern of freshwater turtles and the coastal marine C. placidoi. Moreover, osteohistological features imply metaplastic incorporation of dermal interwoven structural fiber bundles. Lastly, the xiphiplastron of C. placidoi shows an increase of bone compactness over its craniocaudal axis. This microanatomical feature is exclusive to Cearachelys so far.
Age‐SpecificTime Trends in Incidence Rates of Autism Spectrum Disorder Following Adaptation ofDSM‐5 and OtherASD‐RelatedRegulatory Changes in Israel
Authors: Davidovitch Michael , Slobodin Ortal , Weisskopf Marc G. , Rotem Ran S. 
Published: October 2020

We analyzed data on 879,029 children born in 1999–2017 from a large Israeli health fund to evaluate time‐trends in incidence of autism spectrum disorder (ASD). This included examining possible effects associated with the adaptation of the DSM‐5 criteria for ASD, and the implementation of regulatory changes affecting eligibility for ASD‐related stipends and services. ASD cases were ascertained based on electronic medical records review, with complete verification of ASD case status. Results indicated a substantial increase in ASD incidence rate (IR) over time that was overall not appreciably affected by the above changes. Cumulative incidence through age 8 rose from 0.46% (boys: 0.73; girls: 0.18) in 2007 to 1.30% (boys: 2.12; girls: 0.45) in 2018. Age‐specific analyzes indicated that the largest increase in IR occurred in toddlers and preschool children, with a more modest increase at older age groups. Results suggest that the rise in early diagnosed ASD does not stem from a downward shift in the distribution of ages at first diagnosis, but rather from early detection of cases not previously diagnosed. Findings highlight the need to expand research aimed at identifying exogenous factors that may underlie the rise in incidence, and to evaluate factors that may contribute to late diagnosis of some cases.Autism Res2020, 13: 1893‐1901. © 2020 International Society for Autism Research and Wiley Periodicals LLCLay SummaryIn an analysis of nearly 900,000 Israeli children born in 1999–2017, we found that the incidence of autism spectrum disorder (ASD) increased significantly over time, especially among toddlers and preschool children but also at older age groups. We additionally observed that changes affecting diagnostic criteria for ASD and eligibility for ASD‐related services did not appreciably affect these trends. Results highlight the need to continue research aimed at identifying factors causing this increase and reasons contributing to late diagnosis of some cases.
Use of correlated scrambling variables in quantitative randomized response technique
Authors: Murtaza Maryam , Singh Sarjinder , Hussain Zawar 
Published: October 2020

AbstractIn this paper, we develop a new methodology that indicates that the use of correlated scrambling variables in the randomized response technique may play an important role in increasing the efficiency of an estimator of the population mean of a sensitive variable. Although it is clear analytically that the proposed estimator is more efficient than its existing competitors, we have investigated the magnitude of the gain in efficiency through simulation studies that involve both real secondary data from the health sciences, as well as artificial data. We also derive an estimator of the variance of the proposed estimator of mean and we study the coverage of 95% confidence intervals based on this variance estimator. An application using real primary data on smoking by university students is also included.
Gene signature based on B cell predicts clinical outcome of radiotherapy and immunotherapy for patients with lung adenocarcinoma
Authors: Han Linzhi , Shi Hongjie , Luo Yuan , Sun Wenjie , Li Shuying , Zhang Nannan , Jiang Xueping , Gong Yan , Xie Conghua 
Published: October 2020

AbstractLung adenocarcinoma (LUAD) is the most common and lethal cancer worldwide. Radiotherapy (RT) is widely used at all stages of LUAD, and the development of immunotherapy substantially enhances the survival of LUAD patients. Although the emerging treatments for LUAD have improved prognosis, only a small fraction of patients can benefit from clinical therapies. Thereby, approaches assessing responses to RT and immunotherapy in LUAD patients are essential. After integrating the analysis of RT, immunization, mRNA, and clinical information, we constructed a signature based on 308 tumor‐infiltrating B lymphocyte‐specific genes (TILBSig) using a machine learning method. TILBSig was composed of 6 B cell‐specific genes (PARP15, BIRC3, RUBCNL, SP110, TLE1, and FADS3), which were highly associated with the overall survival as independent factors. TILBSig was able to differentiate better survival compared with worse survival among different patients, and served as an independent factor for clinical characteristics. The low‐risk TILBSig group was correlated with more immune cell infiltration (especially B lineages) and lower cancer stem cell characteristics than the high‐risk group. The patients with lower risk scores were more likely to respond to RT and immunotherapy. TILBSig served as an excellent predicator for prognosis and response to immunotherapy and RT in LUAD patients.
Bioactive Constituents from the Bryophyta Hypnum plumaeforme
Authors: Li Jian‐Lin , Wie Lai‐Lai , Chen Chen , Liu Di , Gu Yu‐Qin , Duan‐Mu Jia‐Xin , Chen Guang‐Tong , Song Yan 
Published: October 2020

AbstractChemical investigation of the secondary metabolites of the whole plant of bryophyte Hypnum plumaeforme Wilson led to the isolation of a new pimarane‐type diterpenoid, momilactone F (1), along with seventeen known compounds. Their chemical structures were elucidated based on massive spectroscopic data. The allelopathic and antifungal properties were evaluated. Among them, momilactone F (1), acrenol (2),[11] momilactones A (3) and B (4) showed significant allelopathic activity against Samolus parviflorus Raf. and Lactuca sativa L. var. angustana Irish, as well as selected antifungal property against crop pathogenic fungi strains. On the other hand, 8(14)‐podocarpen‐13‐on‐18‐oic acid (8) exhibited strong promoting activity on the growth of L. sativa L. var. angustana Irish. The present investigation provided new insights for developing of H. plumaeforme for further application as a potential agricultural tool.
Structural Insights into the Interaction of Heme with Protein Tyrosine Kinase JAK2**
Authors: Schmalohr Benjamin Franz , Mustafa Al‐Hassan M. , Krämer Oliver H. , Imhof Diana 
Published: October 2020

AbstractJanus kinase 2 (JAK2) is the most important signal‐transducing tyrosine kinase in erythropoietic precursor cells. Its malfunction drives several myeloproliferative disorders. Heme is a small metal‐ion‐carrying molecule that is incorporated into hemoglobin in erythroid precursor cells to transport oxygen. In addition, heme is a signaling molecule and regulator of various biochemical processes. Here, we show that heme exposure leads to hyperphosphorylation of JAK2 in a myeloid cancer cell line. Two peptides identified in JAK2 are heme‐regulatory motifs and show low‐micromolar affinities for heme. These peptides map to the kinase domain of JAK2, which is essential for downstream signaling. We suggest these motifs to be the interaction sites of heme with JAK2, which drive the heme‐induced hyperphosphorylation. The results presented herein could facilitate the development of heme‐related pharmacological tools to combat myeloproliferative disorders.
Long‐term follow‐up of percutaneous coronary intervention versus coronary artery bypass grafting in left main coronary artery disease: A systematic review and meta‐analysis
Authors: Garg Aakash , Rout Amit , Raheja Hitesh , Hakeem Hisham , Sharma Samin 
Published: October 2020

AbstractObjectivesWe conducted a systematic review and meta‐analysis to evaluate the long‐term outcomes of PCI compared to CABG in patients with LMCAD.BackgroundRecent data from randomized controlled trials (RCTs) has raised concerns regarding the long‐term efficacy and safety of percutaneous coronary intervention (PCI) compared with coronary artery bypass grafting (CABG) in patients with left main coronary artery disease (LMCAD).MethodsWe searched MEDLINE and EMBASE databases for published RCTs comparing PCI using stenting with CABG in patients with LMCAD. Preferred reporting items for systematic review and meta‐analysis guidelines were used for the present study. End‐points of interest were all‐cause mortality, cardiovascular (CV) mortality, myocardial infarction (MI), stroke, and repeat revascularization at longest available follow‐up. Relevant data were collected and pooled odds ratio (OR) with 95% confidence intervals (CI) was calculated using random‐effects model.ResultsFive RCTs including a total of 4,499 patients were included in the final analysis. Mean duration of follow‐up was 96 months. The risks of all‐cause mortality [OR 1.09 (95% CI 0.88–1.34)] and cardiovascular mortality [1.14 (0.88–1.47)] were comparable between PCI and CABG. There were no statistically significant differences between PCI and CABG for MI [1.52 (0.98–2.37)] and stroke [0.84 (0.48–1.45)]. Conversely, repeat revascularization was significantly higher with PCI as compared with CABG [1.82 (1.49–2.22)].ConclusionAt long‐term follow‐up, PCI is associated with similar risks of mortality but a higher risk of repeat revascularization compared with CABG in LMCAD. Long‐term risk of MI with PCI compared to CABG needs to be further explored in future studies.
A novel technique for postclosure of large‐bore sheaths using two Perclose devices
Authors: Choi Charles H. , Hall James Kevin , Malaver Diego , Applegate Robert J. , Zhao David X. M. 
Published: October 2020

AbstractObjectivesThis study aimed to assess the feasibility, efficacy, and safety of a novel percutaneous postprocedure closure technique for large arterial sheath removal with the use of two Perclose ProGlide (Abbott Vascular Devices, Redwood City, CA) devices.BackgroundPostprocedural closing of large‐bore arteriotomies using the Perclose system can be difficult given the subsequent inability of the device to capture sufficient wall tissue.MethodsOur study was a single‐center retrospective analysis of 22 consecutive patients who underwent large arteriotomy closure via the postclosure technique with a 12–16‐Fr sheath. Efficacy endpoints included successful deployment of the system and hemostasis. Safety endpoints included the incidence of major or minor vascular complications as defined by the Vascular Academic Research Consortium‐2 (VARC‐2) definitions at 30‐day follow‐up.ResultsThe postclosure technique resulted in 100% technical success rate and no postprocedural bleeding or vascular complications.ConclusionPostclosure technique is a safe, highly effective, and feasible percutaneous method to achieve large‐bore arteriotomy hemostasis with low rates of major bleeding or vascular complications and favorable early outcome.
Prone positioning and convalescent plasma therapy in a critically ill pregnant woman with COVID‐19
Authors: Donzelli Massimo , Ippolito Mariachiara , Catalisano Giulia , Renda Baldassare , Tarantino Francesco , Diquattro Orazia , Cortegiani Andrea 
Published: October 2020

AbstractProne positioning is feasible in pregnancy and may have contributed to the positive outcome in this case. Doctors should not be reluctant to move a patient to a prone position just because they are pregnant.
Dual‐Transducer Malaria Aptasensor Combining Electrochemical Impedance and Surface Plasmon Polariton Detection on Gold Nanohole Arrays
Authors: Lenyk Bohdan , Figueroa‐Miranda Gabriela , Pavlushko Ivan , Lo Young , Tanner Julian A. , Offenhäusser Andreas , Mayer Dirk 
Published: October 2020

AbstractTwo transducer principles are combined in one aptamer biosensor (aptasensor) by simultaneously performing electrochemical impedance spectroscopy (EIS) and surface plasmon polariton (SPP) detection of a malaria biomarker. A thin gold film perforated with nanohole arrays is modified with small and highly charged aptamer receptors and utilized for the detection of Plasmodium falciparum lactate dehydrogenase (PfLDH), the main biomarker of malaria. Monitoring the same analyte binding events by two independent transduction principles not only corroborates the in situ detection, but also covers a concentration range of six orders of magnitude (1 pM–1 μM). The EIS method is highly sensitive to low concentrations of PfLDH (1 pM–100 nM), whereas SPP is sensitive to higher concentrations of the target (10 nM–1 μM), owing to either high interfacial or more bulk sensitivity, respectively. Thus, we propose the dual‐transducer aptasensor based on gold nanohole arrays as a platform for a broad dynamic concentration range and reliable detection.
The Synthesis of Warfarin Using a Reconfigurable‐Reactor Platform Integrated to a Multiple‐Variable Optimization Tool
Authors: Kwak Jee Seong , Bizarri Nour , Sharif Sepideh , Zhang Wenyao Peter , Mallik Debasis , Organ Michael G. 
Published: October 2020

AbstractOptimization of the asymmetric synthesis of warfarin, an important anticoagulant, has been evaluated using a reconfigurable reaction platform capable of performing batch, continuous flow, and plug‐flow synthesis. Further, this platform has been integrated with a novel, multidimensional, multiple variable analysis tool that can evaluate multiple critical quality attributes (CQA), percent conversion and enantiomeric excess in this case, from a single injection that is repeatedly recycled in a closed loop of chromatography columns, a detector and a heart‐cut valve. Further, the new, integrated analysis system also facilitates validation of each QA, providing a high‐level of confidence in analytical measurements, which are obtained without operator intervention.
Foreign affiliates' knowledge sourcing from parent firms
Authors: Kim Hyun Gon , Cho Se Ho 
Published: October 2020

AbstractThis study investigates the factors that influence the extent to which foreign research and development affiliates source knowledge from their parent firms, by developing theoretical hypotheses that predict patterns of foreign affiliates' knowledge sourcing according to their technological capabilities at multiple levels (firm, industry, and country). We use cross‐border mergers and acquisitions and patent citation data from Fortune Global 500 firms to test our theoretical arguments. The findings suggest that a parent firm's foreign affiliate ownership, industry‐level R&D intensity, and home–host country differences in technological capabilities increase foreign affiliates' knowledge sourcing from their parent firms.
Patients with hepatocellular carcinoma from more rural and lower‐income households have more advanced tumor stage at diagnosis and significantly higher mortality
Authors: Wong Robert J. , Kim Donghee , Ahmed Aijaz , Singal Ashwani K. 
Published: October 2020

BackgroundPatients from rural and low‐income households may have suboptimal access to liver disease care, which may translate into worse HCC outcomes. The authors provide a comprehensive update of HCC incidence and outcomes among US adults, focusing on the effect of rural geography and household income on tumor stage and mortality.MethodsThe authors retrospectively evaluated adults with HCC using Surveillance, Epidemiology, and End Results data from 2004 to 2017. HCC incidence was reported per 100,000 persons and was compared using z‐statistics. Tumor stage at diagnosis used the Surveillance, Epidemiology, and End Results staging system and was evaluated with multivariate logistic regression. HCC mortality was evaluated using Kaplan‐Meier and multivariate Cox proportional hazards methods.ResultsHCC incidence plateaued for most groups, with the exception of American Indians/Alaska Natives (2004‐2017: APC, 4.17%; P < .05) and patients in the lowest household income category (<$40,000; 2006‐2017: APC, 2.80%; P < .05). Compared with patients who had HCC in large metropolitan areas with a population >1 million, patients in more rural regions had higher odds of advanced‐stage HCC at diagnosis (odds ratio, 1.10; 95% CI, 1.00‐1.20; P = .04) and higher mortality (hazard ratio, 1.05; 95% CI, 1.01‐1.08; P = .02). Compared with the highest income group (≥$70,000), patients with HCC who earned <$40,000 annually had higher odds of advanced‐stage HCC (odds ratio, 1.15; 95% CI, 1.01‐1.32; P = .03) and higher mortality (hazard ratio, 1.23; 95% CI, 1.16‐1.31; P < .001).ConclusionsPatients from rural regions and lower‐income households had more advanced tumor stage at diagnosis and significantly higher HCC mortality. These disparities likely reflect suboptimal access to consistent high‐quality liver disease care, including HCC surveillance.