bluuebunny/crossref_metadata_2025_split huggingface dataset:
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review
Authors: Baban Anwar , Olivini Nicole , Lepri Francesca Romana , Calì Federica , Mucciolo Mafalda , Digilio Maria C. , Calcagni Giulio , di Mambro Corrado , Dallapiccola Bruno , Adorisio Rachele , Novelli Antonio , Drago Fabrizio 
Published: August 2019

AbstractNoonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11, SOS1, RAF1, and RIT1. Congenital heart defects and cardiomyopathy (CMP) are associated with significant morbidity and mortality in NS. Although hypertrophic CMP has “classically” been reported in association to RAF1, RIT1, and PTPN11 variants, SOS1 appears to be poorly related to CMP. Patients with NS attending our Center from January 2013 to June 2018 were eligible for inclusion if they carried SOS1 variants and presented with—or developed—CMP. Literature review describing the co‐existence of SOS1 mutation and CMP was also performed. We identified six patients with SOS1 variants and CMP (male to female ratio 2:1) including two novel variants. CMP spectrum encompassed: (a) dilated CMP, (b) nonobstructive hypertrophic CMPs, and (c) obstructive hypertrophic CMPs. Survival is 100%. Literature review included 16 SOS1 mutated in CMP. CMP, mainly hypertrophic, has been often reported in association to RAF1, RIT1, and PTPN11 variants. Differently from previous reports, due to the frequent association of SOS1 variants and CMP in our single center experience, we suggest potential underestimated proportion of SOS1 in pediatric CMPs.
Gene ontology analysis of arthrogryposis (multiple congenital contractures)
Authors: Kiefer Jeff , Hall Judith G. 
Published: August 2019

AbstractIn 2016, we published an article applying Gene Ontology Analysis to the genes that had been reported to be associated with arthrogryposis (multiple congenital contractures) (Hall & Kiefer, 2016). At that time, 320 genes had been reported to have mutations associated with arthrogryposis. All were associated with decreased fetal movement. These 320 genes were analyzed by biological process and cellular component categories, and yielded 22 distinct groupings. Since that time, another 82 additional genes have been reported, now totaling 402 genes, which when mutated, are associated with arthrogryposis (arthrogryposis multiplex congenita). So, we decided to update the analysis in order to stimulate further research and possible treatment. Now, 29 groupings can be identified, but only 19 groups have more than one gene.
Individual, social, and environmental factors affecting salivary and fecal cortisol levels in captive pied tamarins (Saguinus bicolor)
Authors: Price Eluned , Coleman Rob , Ahsmann Judith , Glendewar Gale , Hunt Jenna , Smith Tessa , Wormell Dominic 
Published: August 2019

AbstractPied tamarins (Saguinus bicolor) are endangered New World primates, and in captivity appear to be very susceptible to stress. We measured cortisol in 214 saliva samples from 36 tamarins and in 227 fecal samples from 27 tamarins, and investigated the effects of age, sex, pregnancy, rearing history, social status, weight, group composition, and enclosure type using generalized linear mixed models. There was no effect of age on either fecal or salivary cortisol levels. Female pied tamarins in late pregnancy had higher fecal cortisol levels than those in early pregnancy, or nonpregnant females, but there was no effect of pregnancy on salivary cortisol. Females had higher salivary cortisol levels than males, but there was no effect of rearing history. However, for fecal cortisol, there was an interaction between sex and rearing history. Hand‐reared tamarins overall had higher fecal cortisol levels, but while male parent‐reared tamarins had higher levels than females who were parent‐reared, the reverse was true for hand‐reared individuals. There was a trend towards lower fecal cortisol levels in subordinate individuals, but no effect of status on salivary cortisol. Fecal but not salivary cortisol levels declined with increasing weight. We found little effect of group composition on cortisol levels in either saliva or feces, suggesting that as long as tamarins are housed socially, the nature of the group is of less importance. However, animals in off‐show enclosures had higher salivary and fecal cortisol levels than individuals housed on‐show. We suggest that large on‐show enclosures with permanent access to off‐exhibit areas may compensate for the effects of visitor disturbance, and a larger number of tamarins of the same species housed close together may explain the higher cortisol levels found in tamarins living in off‐show accommodation, but further research is needed.
Visible Light Induced Rhodium(I)‐Catalyzed C−H Borylation
Authors: Thongpaen Jompol , Manguin Romane , Dorcet Vincent , Vives Thomas , Duhayon Carine , Mauduit Marc , Baslé Olivier 
Published: August 2019

AbstractAn efficient visible light induced rhodium(I)‐catalyzed regioselective borylation of aromatic C−H bonds is reported. The photocatalytic system is based on a single NHC−RhIcomplex capable of both harvesting visible light and enabling the bond breaking/forming at room temperature. The chelating nature of the NHC‐carboxylate ligand was critical to ensure the stability of the RhIcomplex and to provide excellent photocatalytic activities. Experimental mechanistic studies evidenced a photooxidativeorthoC−H bond addition upon irradiation with blue LEDs, leading to a cyclometalated RhIII‐hydride intermediate.
Why Do Five Ga+ Cations Form a Ligand‐Stabilized [Ga5]5+ Pentagon and How Does a 5:1 Salt Pack in the Solid State?
Authors: Glootz Kim , Himmel Daniel , Kratzert Daniel , Butschke Burkhard , Scherer Harald , Krossing Ingo 
Published: August 2019

AbstractThe reaction of the Ga+ source [Ga(PhF)2]+[Al(ORF)4]− with the neutral σ‐donor ligand dmap (4‐Me2N‐C6H4N) produces the unexpectedly large and fivefold positively charged cluster cation salt [Ga5(dmap)10]5+([Al(ORF)4]−)5. It includes a regular and planar Ga5 pentagon with strong metal–metal bonding. Additionally, the compound represents the first salt in which an ionic 1:5 packing is realized. We discuss the nature of this structure which results from the conversion of the non‐bonding 4s2 lone‐pair orbitals into fully Ga‐Ga‐bonding orbitals and the solid‐state arrangement of the ions constituting the lattice as an almost orthohexagonal AX5 lattice, possibly the aristotype of any 5:1 salt.
Strain‐Promoted 1,3‐Dithiolium‐4‐olates–Alkyne Cycloaddition
Authors: Kumar Ramar Arun , Pattanayak Manas R. , Yen‐Pon Expédite , Eliyan Jijy , Porte Karine , Bernard Sabrina , Riomet Margaux , Thuéry Pierre , Audisio Davide , Taran Frédéric 
Published: August 2019

AbstractReported here is the reactivity of mesoionic 1,3‐dithiolium‐4‐olates towards strained alkynes, leading to thiophene cycloaddition products. In the process, the potential of these dipoles towards orthogonal reaction with azides, allowing efficient double ligation reactions, was discovered. A versatile process to access benzo[c]thiophenes, in an unprecedented divergent fashion, was developed and provides a new entry to unconventional polyaromatic thiophenes.
Preferred Formation of Minority Concomitant Polymorphs in 2D Self‐Assembly under Lateral Nanoconfinement
Authors: Seibel Johannes , Amabilino David B. , De Feyter Steven 
Published: August 2019

AbstractControl over polymorph formation in the crystallization of organic molecules remains a huge scientific challenge. Now, preferential formation is presented of one polymorph, formed by chiral molecules, in controlled two‐dimensional (2D) nanoconfinement conditions at a liquid–solid interface. So‐called nanocorrals to control concomitant polymorph formation were created in situ via a nanoshaving protocol at the interface between 1‐phenyloctane and covalently modified highly‐oriented pyrolytic graphite (HOPG). The preferentially formed polymorphs, which were less stable in the large‐scale monolayers, could be selected simply by varying the orientation of the square nanocorrals with respect to the HOPG lattice.
Synthesis of photo‐crosslinked hybrid fluoropolymer and its application as releasing coating for silicone pressure‐sensitive adhesives
Authors: Wang Yu , Bai Yongping , Yue Lipeng , Zheng Xiaoqiang 
Published: August 2019

ABSTRACTIn this study, a novel photo‐crosslinked polymer composite was made from NCO‐terminated fluoropolymers by the incorporation of functionalized graphene through thein situpolymerization method. This polymer composite can be photoinduced to form a network under UV radiation without photoinitiators, displaying an excellent transmittance (T% > 90% at 550 nm), a high thermostability with a glass transition temperature (Tg< −15 °C), and a 10% weight loss temperature (410 °C). With UV radiation, the hybrid coating exhibited a controlled releasing force between 100 and 500 g/25 mm for silicone PSAs, which was an important breakthrough in the heavy‐releasing industry. Their aging releasing performance and residual adhesion force were satisfactory. More importantly, antistatic agents are not needed any more before the coating of this novel releasing agent. In addition, the coating possessed good hydrophobicity with a contact angle of 110° and great resistance to solvents. These metrics indicate that incorporating functionalized graphene as curable points into composites can greatly improve the performance of fluoropolymer properties. The obtained polymers have potential applications in the releasing and protective industry. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci.2019,136, 48322.
Gestational exposure to nicotine and/or benzo[a]pyrene causes long‐lasting neurobehavioral consequences
Authors: Hawkey Andrew , Junaid Shaqif , Yao Leah , Spiera Zachary , White Hannah , Cauley Marty , Levin Edward D. 
Published: August 2019

AbstractTobacco smoke is a complex mixture that includes thousands of compounds. Previously, we have found that gestational exposure to the complex mixture of tobacco smoke extract caused long‐term neurobehavioral impairments. In this study, we examined the interaction of two of the most biologically active, nicotine and benzo[a]pyrene (BaP). Developmental effects were determined in Sprague–Dawley rats prenatally exposed to low doses of BaP and nicotine (0.03 mg/kg/day of BaP and 2 mg/kg/day of nicotine) via maternal osmotic minipumps throughout gestation. Behavioral function was assessed in the offspring via a battery of tests through adolescence into adulthood. There were sex‐selective effects in four of the behavioral tests. In the elevated plus maze, there was a significant interaction of BaP and sex, where BaP‐treated males showed a trend for increased activity. In the novelty suppressed feeding test, there were significant sex selective effects in males such that the normal sex difference in the behavior in this test was eliminated. Male offspring with prenatal exposure to either nicotine or BaP showed significant reductions in fear response. In the Figure‐8 locomotor activity test, BAP‐exposed male offspring were significantly hyperactive. This also eliminated the sex difference typically seen in this test. This effect persisted into adulthood. In the attention task, males exposed to nicotine during gestation showed a significant percent hit impairment. BaP reversed this effect. No significant effects were seen with percent correct rejection. These data show that both nicotine and BaP cause persisting sex‐selective behavioral effects that persist into adulthood.
Validation of discrete time‐to‐event prediction models in the presence of competing risks
Authors: Heyard Rachel , Timsit Jean‐François , Held Leonhard ,   COMBACTE‐MAGNET consortium
Published: August 2019

AbstractClinical prediction models play a key role in risk stratification, therapy assignment and many other fields of medical decision making. Before they can enter clinical practice, their usefulness has to be demonstrated using systematic validation. Methods to assess their predictive performance have been proposed for continuous, binary, and time‐to‐event outcomes, but the literature on validation methods for discrete time‐to‐event models with competing risks is sparse. The present paper tries to fill this gap and proposes new methodology to quantify discrimination, calibration, and prediction error (PE) for discrete time‐to‐event outcomes in the presence of competing risks. In our case study, the goal was to predict the risk of ventilator‐associated pneumonia (VAP) attributed to Pseudomonas aeruginosa in intensive care units (ICUs). Competing events are extubation, death, and VAP due to other bacteria. The aim of this application is to validate complex prediction models developed in previous work on more recently available validation data.
A new approach to ion exchange chromatography with conductivity detection for adulterants investigation in dietary supplements
Authors: Dal Molin Thaís Ramos , da Silveira Géssica Domingos , Leal Gabriela Camera , Müller Larissa Sabo , Muratt Diana Tomazi , de Carvalho Leandro Machado , Viana Carine 
Published: August 2019

AbstractThe extent of adulteration of dietary supplements has significantly increased in recent years. This situation worries health authorities and requires auxiliary analytical tools for the investigation of illegal substances purposely added. Ion exchange chromatography with conductivity detection is a consolidated analytical technique for the determination of inorganic compounds in various matrices. This technique has been applied to the pharmaceutical characterization of mainly impurities and degradation products. This work presents a new approach to ion exchange chromatography as a screening method to investigate the presence of amfepramone, femproporex, sibutramine, bisacodyl and amiloride in dietary supplements advertised for weight loss. The method was optimized and validated using a Metrosep C4 100/4.0 cation exchange column. The mobile phase consisted of 1.8 mm HNO3 containing 2% acetonitrile (v/v), with a flow rate of 0.9 ml min−1, and nonsuppressed conductivity detection was applied. The limits of detection and quantification varied from 1.01 to 3.62 mg L−1 and from 1.48 to 8.72 mg L−1, respectively. The proposed method was successful applied to 78 solid dietary supplement samples, in two of which adulterations were found. Moreover, ion exchange chromatography with conductivity detection could be easily used for quality control without prior complex sample pre‐treatment.
How words impact on pain
Authors: Ritter Alexander , Franz Marcel , Miltner Wolfgang H. R. , Weiss Thomas 
Published: August 2019

AbstractIntroductionThe wording used before and during painful medical procedures might significantly affect the painfulness and discomfort of the procedures. Two theories might account for these effects: the motivational priming theory (Lang, 1995, American Psychologist, 50, 372) and the theory of neural networks (Hebb, 1949, The organization of behavior. New York, NY: Wiley; Pulvermuller, 1999, Behavioral and Brain Sciences, 22, 253; Pulvermüller and Fadiga, 2010, Nature Reviews Neuroscience, 11, 351).MethodsUsing fMRI, we investigated how negative, pain‐related, and neutral words that preceded the application of noxious stimuli as priming stimuli affect the cortical processing and pain ratings of following noxious stimuli.ResultsHere, we show that both theories are applicable: Stronger pain and stronger activation were observed in several brain areas in response to noxious stimuli preceded by both, negative and pain‐related words, respectively, as compared to preceding neutral words, thus supporting motivational priming theory. Furthermore, pain ratings and activation in somatosensory cortices, primary motor cortex, premotor cortex, thalamus, putamen, and precuneus were even stronger for preceding pain‐related than for negative words supporting the theory of neural networks.ConclusionOur results explain the influence of wording on pain perception and might have important consequences for clinical work.
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma
Authors: Liao Yuwei , Ma Zhaokui , Zhang Yu , Li Dan , Lv Dekang , Chen Zhisheng , Li Peiying , AI‐Dherasi Aisha , Zheng Feng , Tian Jichao , Zou Kun , Wang Yue , Wang Dongxia , Cordova Miguel , Zhou Huan , Li Xiuhua , Liu Dan , Yu Ruofei , Zhang Qingzheng , Zhang Xiaolong , Zhang Jian , Zhang Xuehong , Zhang Xia , Li Yulong , Shao Yanyan , Song Luyao , Liu Ruimei , Wang Yichen , Sufiyan Sufiyan , Liu Quentin , Owen Gareth I. , Li Zhiguang , Chen Jun 
Published: August 2019

AbstractIntroductionTargeted therapies are based on specific gene alterations. Various specimen types have been used to determine gene alterations, however, no systemic comparisons have yet been made. Herein, we assessed alterations in selected cancer‐associated genes across varying sample sites in lung cancer patients.Materials and MethodsTargeted deep sequencing for 48 tumor‐related genes was applied to 153 samples from 55 lung cancer patients obtained from six sources: Formalin‐fixed paraffin‐embedded (FFPE) tumor tissues, pleural effusion supernatant (PES) and pleural effusion cell sediments (PEC), white blood cells (WBCs), oral epithelial cells (OECs), and plasma.ResultsMutations were detected in 96% (53/55) of the patients and in 83% (40/48) of the selected genes. Each sample type exhibited a characteristic mutational pattern. As anticipated, TP53 was the most affected sequence (54.5% patients), however this was followed by NOTCH1 (36%, across all sample types). EGFR was altered in patient samples at a frequency of 32.7% and KRAS 10.9%. This high EGFR/ low KRAS frequency is in accordance with other TCGA cohorts of Asian origin but differs from the Caucasian population where KRAS is the more dominant mutation. Additionally, 66% (31/47) of PEC samples had copy number variants (CNVs) in at least one gene. Unlike the concurrent loss and gain in most genes, herein NOTCH1 loss was identified in 21% patients, with no gain observed. Based on the relative prevalence of mutations and CNVs, we divided lung cancer patients into SNV‐dominated, CNV‐dominated, and codominated groups.ConclusionsOur results confirm previous reports that EGFR mutations are more prevalent than KRAS in Chinese lung cancer patients. NOTCH1 gene alterations are more common than previously reported and reveals a role of NOTCH1 modifications in tumor metastasis. Furthermore, genetic material from malignant pleural effusion cell sediments may be a noninvasive manner to identify CNV and participate in treatment decisions.
Ultrathin Two‐Dimensional Metal‐Organic‐Framework‐Derived CoO/Nitrogen and Sulfur Co‐doped Ultrathin Porous Carbon Nanoplates for Highly Efficient Water Electrolysis
Authors: Chao Shujun , Wu Hongwei , Xia Qingyun , Wang Ge 
Published: August 2019

AbstractThe development of highly efficient and stable non‐noble bifunctional catalysts for overall water electrolysis has attracted considerable attention in recent decades. Owing to appealing chemical and structural properties, two‐dimensional (2D) porous nanocomposites have been considered as the first‐class candidates for water electrolysis. Herein, an effective 2D bifunctional catalyst, CoO‐modified nitrogen and sulfur co‐doped ultrathin porous carbon nanoplates, has been synthesized by pyrolysis of ultrathin [CoII(Tdc)(4,4′‐Bpy)]n (Tdc=thiophene‐2,5‐dicarboxylate; Bpy=4,4′‐bipyridine) nanoplates at 600 °C under a nitrogen atmosphere (denoted CoO/N‐S‐UPCNPs‐600). CoO/N‐S‐UPCNPs‐600 possesses favorable properties for oxygen evolution reaction (OER) and hydrogen evolution reaction (HER), such as a thinner thickness in ultrathin porous carbon nanoplates (UPCNPs), more defects, and a larger specific surface area. As a result, CoO/N‐S‐UPCNPs‐600 exhibits high catalytic activity and stability towards both OER and HER in alkaline medium. Its overpotentials and Tafel slopes are as low as 240 and 110 mV at 10 mA cm−2 and as small as 62 and 94 mV dec−1 for OER and HER, respectively. Furthermore, an alkaline water electrolyzer fabricated with CoO/N‐S‐UPCNPs‐600 as both anodic and cathodic catalysts delivers an attractive cell potential of 1.63 V at 10 mA cm−2 and shows no obvious degradation over 20 h. Therefore, the resultant 2D ultrathin porous nanocomposite is expected to be applied for efficient water electrolysis.
Expanded Porphyrin Contraction: From [22]Triphyrin(6.6.0) to [22]Triphyrin(6.5.0)
Authors: Pacholska‐Dudziak Ewa , Hojniak‐Thyssen Sandra , Latos‐Grażyński Lechosław 
Published: August 2019

AbstractAn expanded triphyrin containing a bipyrrole moiety and annulene links, namely tetraphenyl‐[22]triphyrin(6.5.0),2, has been synthesized. The synthesis proceeded by a postsynthetic transformation of tetraphenyl‐[22]triphyrin(6.6.0),1, in a metal‐free unexpected and unprecedented ring contraction during column chromatography on alumina. The observed transformation, located at the hydrocarbon chain linking the pyrrole units, formally corresponds to a subtraction of one carbon atom from an annulene circuit. In contrast to the flexible substrate1, the product2is conformationally rigid, and capable of chloride anion binding in its protonated form.
Disulfide‐Containing Detergents (DCDs) for the Structural Biology of Membrane Proteins
Authors: Xue Dongxiang , Xu Tiandan , Wang Huixia , Wu Meng , Yuan Ya , Wang Wei , Tan Qiwen , Zhao Fei , Zhou Fang , Hu Tao , Jiang Zhongxing , Liu Zhi‐Jie , Zhao Suwen , Liu Dongsheng , Wüthrich Kurt , Tao Houchao 
Published: August 2019

AbstractDisulfide‐containing detergents (DCDs) are introduced, which contain a disulfide bond in the hydrophobic tail. DCDs form smaller micelles than corresponding detergents with linear hydrocarbon chains, while providing good solubilization and reconstitution of membrane proteins. The use of this new class of detergents in structural biology is illustrated with solution NMR spectra of the human G protein‐coupled receptor A2AAR, which is an α‐helical protein, and the β‐barrel protein OmpX from E. coli.