bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis
Authors: Nguyen Lee S. , Prifti Edi , Ichou Farid , Leban Monique , Funck-Brentano Christian , Touraine Philippe , Salem Joe-Elie , Bachelot Anne 
Published: June 2020

AbstractBackground. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to impaired cortisol biosynthesis. Treatment includes glucocorticoid supplementation. We studied the specific metabolomics signatures in CAH patients using two different algorithms. Methods. In a case-control study of CAH patients matched on sex and age with healthy control subjects, two metabolomic analyses were performed: one using MetaboDiff, a validated differential metabolomic analysis tool and the other, using Predomics, a novel machine-learning algorithm. Results. 168 participants were included (84 CAH patients). There was no correlation between plasma cortisol levels during glucocorticoid supplementation and metabolites in CAH patients. Indoleamine 2,3-dioxygenase enzyme activity was correlated with ACTH (rho coefficient = −0.25, p-value = 0.02), in CAH patients but not in controls subjects. Overall, 33 metabolites were significantly altered in CAH patients. Main changes came from: purine and pyrimidine metabolites, branched aminoacids, tricarboxylic acid cycle metabolites and associated pathways (urea, glucose, pentose phosphates). MetaboDiff identified 2 modules that were significantly different between both groups: aminosugar metabolism and purine metabolism. Predomics found several interpretable models which accurately discriminated the two groups (accuracy of 0.86 and AUROC of 0.9). Conclusion. CAH patients and healthy control subjects exhibit significant differences in plasma metabolomes, which may be explained by glucocorticoid supplementation.
Influence of the detection of parent-of-origin on the pregnancy outcomes of fetuses with copy number variation of unknown significance
Authors: Chen Lin , Wang Li , Yin Daishu , Zeng Yang , Tang Feng , Wang Jing 
Published: June 2020

AbstractThe widespread application of high-resolution chromosome detection technology in clinical practice has identified many variants of unknown significance (VOUS) in prenatal diagnosis. The purpose of this study was to prospectively analyze the chromosomal results of parents and the follow-up information of pregnancy outcomes of prenatal samples with VOUS, so as to determine the influence of the detection of parent-of-origin on the pregnancy outcomes of fetuses with VOUS. The present study analyzed amniotic fluid samples obtained from women with different risk indications between February 2017 and December 2018. The samples were subjected to copy number variation sequencing, and detection of parent-of-origin was suggested in cases of samples with VOUS. The pregnancy outcome was followed up. In a total of 14073 amniotic fluid samples, 729 cases of VOUS were detected (5.2%, 729/14073) and 721 cases were followed up successfully. Among the 721 cases, 525 patients agreed to detect the parent-of-origin (72.8%, 525/721). It was revealed that the VOUS in 460 of the fetuses were hereditary (87.6%, 460/525). The percentages of abnormal pregnancy outcomes (included pregnancy loss, fetal pathological abnormality, preterm delivery, neonatal death, birth defects) in the inherited, de novo, and refusal to detect the parent-of-origin (i.e. unknown origin) groups were 4.3% (20/460), 6.2% (4/65), and 6.6% (13/196), respectively. There was no significant difference among the three groups (P > 0.05). The rate of voluntary termination of pregnancy (TOP) in the unknown origin group was significantly higher than that in the group that had determined the parent-of-origin (14.3% vs 7.4%, P = 0.005). There is currently no evidence that suggests that the proportion of abnormal pregnancy outcomes is higher in fetuses with VOUS than in other fetuses. However, the present study revealed that determining the parent-of-origin affects the decision to undergo voluntary TOP, as the rate of voluntary TOP in the group that refused detection was higher than that in the group that consented.
Alterations of transcriptome signatures in head trauma-related neurodegenerative disorders
Authors: Cho Hyesun , Hyeon Seung Jae , Shin Jong-Yeon , Alvarez Victor E. , Stein Thor D. , Lee Junghee , Kowall Neil W. , McKee Ann C. , Ryu Hoon , Seo Jeong-Sun 
Published: June 2020

AbstractChronic traumatic encephalopathy (CTE) is a neurodegenerative disease that is associated with repetitive traumatic brain injury (TBI). CTE is known to share similar neuropathological features with Alzheimer’s disease (AD), but little is known about the molecular properties in CTE. To better understand the neuropathological mechanism of TBI-related disorders, we conducted transcriptome sequencing analysis of CTE including AD and CTE with AD (CTE/AD) post-mortem human brain samples. Through weighted gene co-expression network analysis (WGCNA) and principal component analysis (PCA), we characterized common and unique transcriptome signatures among CTE, CTE/AD, and AD. Interestingly, synapse signaling-associated gene signatures (such as synaptotagmins) were commonly down-regulated in CTE, CTE/AD, and AD. Quantitative real-time PCR (qPCR) and Western blot analyses confirmed that the levels of synaptotagmin 1 (SYT1) were markedly decreased in CTE and AD compared to normal. In addition, calcium/calmodulin-dependent protein kinase II (CaMKII), protein kinase A (PKA), protein kinase C (PKC), and AMPA receptor genes that play a pivotal role in memory function, were down-regulated in head trauma-related disorders. On the other hand, up-regulation of cell adhesion molecules (CAMs) associated genes was only found in CTE. Our results indicate that dysregulation of synaptic transmission- and memory function-related genes are closely linked to the pathology of head injury-related disorder and AD. Alteration of CAMs-related genes may be specific pathological markers for the CTE pathology.
Successful selection of mouse sperm with high viability and fertility using microfluidics chip cell sorter
Authors: Nakao Satohiro , Takeo Toru , Watanabe Hitomi , Kondoh Gen , Nakagata Naomi 
Published: June 2020

AbstractCell sorting via flow cytometry is a powerful tool to select subpopulations of cells in many biological fields. Selection of fertilisation-prone sperm is a critical step to ensure a stable and high fertilisation rate inin vitrofertilisation (IVF). However, a combination of conventional cell sorting and IVF system has not been established because of severe mechanical damages to the sperm during the sorting process. A cell sorter with microfluidics chip technology that lessens cell damage during cell sorting may address this problem. We evaluated the effects of microfluidics chip cell sorting on the sperm using the parameters, such as motility and fertility, and found this cell sorting method had minimal harmful effect on the sperm. Then, sperm were selected by a marker for acrosome reaction and showed higher fertilisation rate than that of the population of acrosome-intact sperm. Embryo derived from these sperm developed normally. These results indicated that microfluidics chip cell sorting can select fertile sperm to improve IVF technique.
SrNbO3 as a transparent conductor in the visible and ultraviolet spectra
Authors: Park Yoonsang , Roth Joseph , Oka Daichi , Hirose Yasushi , Hasegawa Tetsuya , Paul Arpita , Pogrebnyakov Alexej , Gopalan Venkatraman , Birol Turan , Engel-Herbert Roman 
Published: June 2020

AbstractFew materials have been identified as high-performance transparent conductors in the visible regime (400–700 nm). Even fewer conductors are known to be transparent in ultraviolet (UV) spectrum, especially at wavelengths below 320 nm. Doped wide-bandgap semiconductors employed currently as UV transparent conductors have insufficient electrical conductivities, posing a significant challenge for achieving low resistance electrodes. Here, we propose SrNbO3 as an alternative transparent conductor material with excellent performance not only in the visible, but also in the UV spectrum. The high transparency to UV light originates from energetic isolation of the conduction band, which shifts the absorption edge into the UV regime. The standard figure of merit measured for SrNbO3 in the UV spectral range of 260–320 nm is on par with indium tin oxide in the visible, making SrNbO3 an ideal electrode material in high-performance UV light emitting diodes relevant in sanitation application, food packaging, UV photochemotherapy, and biomolecule sensing.
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
Authors: Yuan Zhuang-Zhuang , Yu Fang , Jin Jie-Yuan , Jiao Zi-Jun , Tang Ju-Yu , Xiang Rong 
Published: June 2020

Abstract
Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2–5 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.
BMP9 exhibits dual and coupled roles in inducing osteogenic and angiogenic differentiation of mesenchymal stem cells
Authors: Xiao Haozhuo , Wang Xiaoyu , Wang Claire , Dai Guangming , Zhu Zhenglin , Gao Shengqiang , He Baicheng , Liao Junyi , Huang Wei 
Published: June 2020

AbstractBone morphogenetic protein (BMP) 9 (BMP9) is one of most potent BMPs in inducing osteogenic differentiation of mesenchymal stem cells (MSCs). Recently, evidence has shown that osteogenesis and angiogenesis are coupled, however, it is unclear whether BMP9 induces MSC differentiation into endothelial-like cells and further promotes blood vessel formation. In the present study, we explored the potential of BMP9-induced angiogenic differentiation of MSCs, and the relationship between BMP9-induced osteogenic and angiogenic differentiation of MSCs. Osteogenic activities and angiogenic differentiation markers were analyzed at mRNA and protein levels. In vivo osteogenic and angiogenic differentiation of MSCs were tested by the ectopic bone formation model. We identified that adenoviral vectors effectively transduced in immortalized mouse embryonic fibroblasts (iMEFs) and expressed BMP9 with high efficiency. We found that BMP9 induces early and late osteogenic differentiation, and it up-regulated osteogenic marker expression in MSCs. Meanwhile, BMP9 induces angiogenic differentiation of MSCs via the expression of vascular endothelial growth factor a (VEGFa) and CD31 at both mRNA and protein levels. CD31-positive cells were also increased with the stimulation of BMP9. The ectopic bone formation tests found that BMP9-induced trabecular bone formation was coupled with the expression of blood vessel formation markers and sinusoid capillary formation. These findings suggest that BMP9 exhibits dual and coupled roles in inducing osteogenic and angiogenic differentiation of MSCs.
Spanish Pediatric Picture Identification Test
Authors: Mendel Lisa Lucks , Pousson Monique A. , Bass Johnnie K. , Coffelt Jordan Alyse , Morris Melanie , Lane Kati A. 
Published: June 2020

Purpose
The purpose of this study was to construct and validate a recorded word recognition test for monolingual Spanish-speaking children utilizing a picture board and a picture-pointing task.

Design
The Spanish Pediatric Picture Identification Test was developed and validated in this study. Test construction steps included (a) producing new digital recordings of word lists created by Comstock and Martin (1984) using a bilingual Spanish–English female, (b) obtaining list equivalency, (c) creating digitally illustrated pictures representing the word lists, (d) validating the pictures using monolingual Spanish-speaking and bilingual Spanish–English children, and (e) re-establishing list equivalency and obtaining performance–intensity functions using a picture-pointing task with monolingual Spanish-speaking children and bilingual Spanish–English adults.

Results
Normative data for three Spanish word recognition lists were established. Performance–intensity functions at sensation levels from 0 to 40 dB SL in 8-dB steps were obtained, establishing list equivalency for Lists 1, 2, and 3.

Conclusions
The Spanish Pediatric Picture Identification Test was developed and validated as a picture-pointing task for word recognition with monolingual Spanish-speaking children. The two validated channel recordings include an English translation for ease of testing by clinicians lacking Spanish language skills. Future validation will be conducted with bilingual Spanish–English children with normal hearing and with hearing loss.
Intraoperative Awakening from Endotracheal General Anesthesia for Brain Mapping with Tracheal Tube In Situ
Authors: Bithal Parmod K. , Abdalla Shahenda S. , Jan Ravees , Ward Vandan D. 
Published: June 2020

AbstractAwake craniotomy (AC) is indicated to excise a lesion close to an eloquent area of the brain. Success of this procedure depends upon the patient’s active participation during the awake phase of the surgery, especially for brain mapping. Occasionally, a patient may refuse to remain awake during the surgical procedure and demand general anesthesia (GA). A 27-year-old male with uncontrolled seizures from recurrent brain tumor near motor area refused to consent for AC citing his past unpleasant experience; so, the decision to administer GA was taken. To avoid straining/coughing on tracheal tube, his airway was anesthetized with transtracheal xylocaine, bilateral superior laryngeal nerve block, and inflation of tracheal tube cuff with xylocaine. GA was maintained with sevoflurane, infusion of fentanyl, and rocuronium. To awaken him, anesthetics were discontinued and rocuronium antagonized with sugammadex. Intravenous lignocaine and midazolam were administered to supress cough reflex and produce amnesia, respectively. He tolerated the entire duration of 30 minutes of brain mapping with electrocorticography and neurological testing comfortably. Upon completion of brain mapping, GA was reintroduced and the lesion excised. The surgical outcome was good with no neurological deficit. When interviewed postoperatively, the patient had no recall of the awake phase.
Associations between Features of External Ventricular Drain Management, Disposition, and Shunt Dependence
Authors: Engel Corey , Faulkner Amanda L. , Van Wyck David W. , Zomorodi Ali R. , King Nicolas K. Kam , Williamson Taylor Rachel A. , Hailey Claire E. , Umeano Odera A. , McDonagh David L. , Li Yi-Ju , James Michael L. ,   for the Duke Critical Care Outcomes Research Endeavors (C-CORE) group
Published: June 2020

Abstract
Background In the United States, nearly 25,000 patients annually undergo percutaneous ventriculostomy for the management of increased intracranial pressure with little consensus on extraventricular drain management. To characterize relationships between external ventricular drain management, permanent ventriculoperitoneal shunt placement, and hospital disposition, we hypothesized that patients requiring extended drainage would have greater association with ventriculoperitoneal shunt placement and unfavorable disposition.
Methods Adult patients admitted to the Duke University Hospital Neuroscience Intensive Care Unit between 2008 and 2010 with extraventricular drains were analyzed. A total of 115 patient encounters were assessed to determine relative impact of age, sex, days of extraventricular placement, weaning attempts, cerebrospinal fluid drainage volumes, Glasgow Coma Scale, and physician’s experience on disposition at discharge and ventriculoperitoneal shunt placement. Univariate logistic regression was first used to test the effect of each variable on the outcome, followed by backward selection to determine a final multivariable logistic regression. Variables in the final model meeting p < 0.05 were declared as significant factors for the outcome.
Results Increased extraventricular drain duration (odds ratio [OR] = 1.17, confidence interval [CI] = 1.05–1.30, p = 0.0049) was associated with ventriculoperitoneal shunt placement, while older age (OR = 1.05, CI = 1.02–1.08, p = 0.0027) and less physician extraventricular drain management experience (OR = 4.04, CI = 1.67–9.79, p = 0.0020) were associated with unfavorable disposition.
Conclusion In a small cohort, exploratory analyses demonstrate potentially modifiable factors are associated with important clinical outcomes. These findings warrant further study to refine how such factors affect patient outcomes.
Management of Portal and Mesenteric Venous Thrombosis
Authors: Turkeltaub Joshua A. , Kriss Michael 
Published: June 2020

AbstractPortal vein thrombosis is a rare condition seen in the general population, though is more prevalent in certain populations with thrombophilia as well as in patients with cirrhosis. Because morbidity and mortality can be significant with portal vein thrombosis, diagnosis and appropriate management are crucial. In noncirrhotic patients, untreated portal vein thrombosis can result in mesenteric ischemia and complications of portal hypertension. In cirrhosis, portal vein thrombosis is often incidentally found on routine screening imaging, and the treatment outside of transplant candidates is more controversial. In this review, we will outline risk factors for portal vein thrombosis, discuss indications for treatment, and evaluate both pharmacological and endovascular treatment options, highlighting unique clinical considerations dependent on the presence or absence of cirrhosis.
Exposure to Anticholinergic Medications in Pediatric Severe Sepsis and Feasibility of Delirium Screening
Authors: Madden Kate , Callif Charles G. , Tasker Robert C. 
Published: June 2020

AbstractIn sepsis, anticholinergic dysregulation may result in encephalopathy or delirium during severe illness, either as a result of central inflammation or because of exposure to medications with anticholinergic activity. In this retrospective study, we determined the magnitude of anticholinergic drug exposure in 75 children with severe sepsis. We found that exposure over the first 5 days was high—median (interquartile range) daily anticholinergic drug scale score 4 (2–5)—and associated with higher vasoactive scores and death. We conclude that anticholinergic drug exposure is significant in severe sepsis, which means it may be a modifiable factor that should be studied further.
Management of Refractory Epilepsy
Authors: Singh Rajveer , Chakravarty Kamalesh , Baishya Jitupam , Goyal Manoj K. , Kharbanda Parampreet 
Published: June 2020

AbstractDrug refractory epilepsy, defined as a failure of adequate trials of two (or more) tolerated, appropriately chosen, and appropriately used antiepileptic drug (AED) regimens (whether administered as monotherapies or in combination) to achieve freedom from seizures, affects approximately 30% of patients with new-onset epilepsy. Persistent epileptic seizures in these patients, in addition to having deleterious effects on health, are also associated with psychosocial, behavioral, cognitive, and financial consequences. Despite availability of several new drugs, response to therapy remains poor in most of drug refractory cases. Also despite several ongoing treatment trials, ideal combination of AEDs remains to be identified. Careful attention to ruling out alternative diagnoses, optimal selection of AEDs, rational use of combination therapy, as well as attention to patient-specific factors, such as poor compliance and drug abuse, remain cornerstone of therapy. In view of poor response to polytherapy, if possible, surgical intervention should be contemplated early. In future, development of new drugs with better efficacy and tolerability and minimal drug interactions, as well as better nonpharmacological therapeutic techniques, will help in managing these patients better.
Abiotic hydrogen (H
2
) sources and sinks near the Mid-Ocean Ridge (MOR) with implications for the subseafloor biosphere
Authors: Worman Stacey L. , Pratson Lincoln F. , Karson Jeffrey A. , Schlesinger William H. 
Published: June 2020

Significance
This paper estimates natural hydrogen production by various geological processes and its ultimate fate in young oceanic crust near the Mid-Ocean Ridge (MOR). Hydrogen is an important source of energy for microbes living beneath the seafloor. Knowing how much is available to support these biological communities is therefore key to understanding the size and significance of this biome, one of the potential first environments for life on Earth and a potential environment for life on other planets.
Cognitive-functional principles and Chinese linear order
Authors: Morbiato Anna 
Published: June 2020

AbstractIn Modern Standard Chinese, word order patterns and constructions are motivated by factors and restrictions connected to different levels of linguistic organization, including not only semantics and syntax, but also pragmatics, information-structure, and the conceptual domain. The functional and the cognitive paradigms have offered distinct but complementary perspectives capable of accounting for word order patterns and regularities related to either the topic-prominent nature of Chinese or the iconic dimension of its grammar. This article shows how cognitive and functional aspects are in fact tightly intertwined and display significant and not yet fully explored parallelisms. Specifically, it looks into the notions of ‘frame’, ‘scope’, and ‘part’, features shared by both functional accounts of topic-comment structures and conceptually motivated word order principles. It proposes a qualitative corpus analysis of such notions and shows that first, Chinese topics are better defined in terms of frames; second, a number of word order regularities can be accounted for with a single cognitive-functional schema, which I refer to asframe-part, orframe-participant,which is connected to the image schema ofcontainment. This article hopes to contribute to bridging the gap between functional studies on information structure in Chinese and perspectives offered by the cognitive approach to linguistic structures, and to offer effective tools for Chinese as a second language acquisition.