bluuebunny/crossref_metadata_2025_split huggingface dataset:
Catel–Manzke syndrome without Manzke dysostosis
Authors: Miller Danny E. , Chow Penny , Gallagher Emily R. , Perkins Jonathan A. , Wenger Tara L. 
Published: December 2019

AbstractCatel–Manzke syndrome is characterized by hand anomalies, Robin sequence, cardiac defects, joint hyperextensibility, and characteristic facial features. Approximately 40 patients with Catel–Manzke have been reported, all with the pathognomonic bilateral or unilateral hyperphalangy caused by an accessory bone between the second metacarpal and proximal phalanx known as Manzke dysostosis. Here we present the first case of molecularly confirmed Catel–Manzke syndrome with Robin sequence but without Manzke dysostosis.
TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome
Authors: Diaz Jullianne , Berger Seth , Leon Eyby 
Published: December 2019

AbstractThe transcription factor for immunoglobulin heavy‐chain enhancer 3 (TFE3) gene encodes a transcription factor that regulates embryonic stem cell (ESC) differentiation. Its phosphorylation by the lysosomal Rag GTPase signaling pathway leads to cytoplasmic sequestration and inactivation promoting ESC differentiation and exit from pluripotency. Somatic translocations of this X‐linked gene cause papillary renal cell carcinoma in which nuclear accumulation of the TFE3 oncoprotein is one of the most significant histopathologic characteristics. Early this year, Villegas et al. identified missense mutations in a TFE3 domain required for cytoplasmic inactivation as potentially causal for a mosaic human developmental disorder. They published five patients with de novo TFE3 nonsynonymous missense variants, four females and one male, with severe intellectual disability (5/5), coarse facial features (4/5), and Blaschkoid pigmentary mosaicism (4/5). The only male described has somatic mosaicism. All patients had normal brain Magnetic Resonance Imagings (MRIs). We present two unrelated females with this distinctive phenotype including the above triad along with other features not previously well described. Both were found to have de novo heterozygous variants in TFE3 on whole exome sequencing, one nonsynonymous missense, and one canonical splice site variant, thereby expanding the phenotypic and mutational spectrum for this disorder. Interestingly, due to significant coarsening of the facial features, both patients were initially thought to have a lysosomal storage disorder but enzyme screening and brain MRIs were negative.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
Authors: Preiksaitiene Egle , Voisin Norine , Gueneau Lucie , Benušienė Eglė , Krasovskaja Natalija , Blažytė Evelina Marija , Ambrozaitytė Laima , Rančelis Tautvydas , Reymond Alexandre , Kučinskas Vaidutis 
Published: December 2019

AbstractBiallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb‐girdle muscular dystrophy‐dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy‐dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). These disorders are very rare and have been previously reported in 10 affected individuals. We present two unrelated Lithuanian families with prenatally detected hydrocephalus due to a homozygous nonsense variant in the POMK. The first signs of hydrocephalus in the affected fetuses became evident at 15 weeks of gestation and rapidly progressed, thus these clinical features are compatible with a diagnosis of MDDGA12. The association between pathogenic POMK variants and macrocephaly and severe hydrocephalus has been previously reported only in two families. Clinical and molecular findings presented in this report highlight congenital hydrocephalus as a distinct feature of POMK related disorders and a differentiator from other dystroglycanopathies. These findings further extend the spectrum of MDDGA12 syndrome.
Socioeconomic differences in diet: An isotopic examination of post‐Medieval Chichester, West Sussex
Authors: Dhaliwal Kirandeep , Rando Carolyn , Reade Hazel , Jourdan Anne‐Lise , Stevens Rhiannon E. 
Published: December 2019

AbstractObjectivesHistorical evidence suggests that social hierarchy pervaded all aspects of society in post‐Medieval England. This study uses stable isotope analysis to explore the extent to which socioeconomic status and sex affected the dietary habits of the inhabitants of post‐Medieval Chichester.Materials and MethodsStable carbon and nitrogen isotope ratios were measured on 40 human burials from the post‐Medieval site of St. Michael's Litten (Chichester, West Sussex, England). Samples were selected from three burial types that denoted differing socioeconomic status with roughly equal numbers of males and females: tomb burials (n= 13) for high‐status; single coffin burials (n= 14) for middle‐status; and shroud burials (n= 13) for low‐status individuals.ResultsThe data showed a largely terrestrial diet with the possibility of some inclusion of marine resources. The isotope results indicate significant variation in the consumption of terrestrial meat (and marine protein) between high‐status tomb burials and coffin and shroud burials, showing that socioeconomic status likely played a role in daily dietary patterns. However, the isotope data suggest sex did not influence an individual's diet.DiscussionThese results mirror trends established in status‐based studies from elsewhere in post‐Medieval England. However, notably absent from the data is evidence for significant marine resource consumption, which is a well‐established dietary trend of the late Medieval and early post‐Medieval periods. These results indicate post‐Medieval Chichester was a socially stratified society with clear implications that the diet of higher status individuals differed significantly from lower status.
Sinonasal quality‐of‐life declines in cystic fibrosis patients with pulmonary exacerbations
Authors: Safi Chetan , DiMango Emily , Keating Claire , Zhou Zian , Gudis David A. 
Published: December 2019

BackgroundIn cystic fibrosis (CF), the relationship between chronic rhinosinusitis (CRS) and pulmonary disease is poorly understood. The purpose of this study was to evaluate the relationship between scores on the 22‐item Sino‐Nasal Outcome Test (SNOT‐22) and CF Questionnaire―revised for adolescents and adults over 14 (CFQ‐R 14+), and pulmonary function tests in 2 cohorts of CF patients: those at their baseline health and those with a pulmonary exacerbation.MethodsPatients >18 years old seen in a Cystic Fibrosis Foundation‒accredited clinic completed the SNOT‐22 and CFQ‐R 14+ instruments. Patients presenting for routine care represented the baseline cohort. Patients diagnosed with a pulmonary exacerbation represented the exacerbation cohort. Average SNOT‐22 and CFQ‐R 14+ scores for both groups were compared using a 2‐sample t test, and correlation coefficient was calculated.ResultsOne hundred three patients were enrolled over 3 months (30 exacerbations and 73 baseline). Patients’ mean age was 32 years (56% female and 44% male). Average SNOT‐22 and CFQ‐R 14+ scores were significantly worse for exacerbation patients (p = 0.001 and p = 0.0003, respectively). Percent predicted forced expiratory volume in 1 second and forced vital capacity were both higher for baseline patients (p = 0.002 and p = 0.001, respectively). Average SNOT‐22 score for all patients was worse than the average score for non‐CF, non‐CRS patients.ConclusionCF patients with pulmonary exacerbations have worse SNOT‐22 and CFQ‐R 14+ scores than CF patients at their baseline health. This finding suggests a temporal relationship between sinonasal and pulmonary quality of life, and that worsening of both is associated with reduced pulmonary function.
Combined Intrinsic and Extrinsic Proton Conduction in Robust Covalent Organic Frameworks for Hydrogen Fuel Cell Applications
Authors: Yang Yi , He Xueyi , Zhang Penghui , Andaloussi Yassin H. , Zhang Hailu , Jiang Zhongyi , Chen Yao , Ma Shengqian , Cheng Peng , Zhang Zhenjie 
Published: December 2019

AbstractDeveloping new materials for the fabrication of proton exchange membranes (PEMs) for fuel cells is of great significance. Herein, a series of highly crystalline, porous, and stable new covalent organic frameworks (COFs) have been developed by a stepwise synthesis strategy. The synthesized COFs exhibit high hydrophilicity and excellent stability in strong acid or base (e.g., 12 m NaOH or HCl) and boiling water. These features make them ideal platforms for proton conduction applications. Upon loading with H3PO4, the COFs (H3PO4@COFs) realize an ultrahigh proton conductivity of 1.13×10−1 S cm−1, the highest among all COF materials, and maintain high proton conductivity across a wide relative humidity (40–100 %) and temperature range (20–80 °C). Furthermore, membrane electrode assemblies were fabricated using H3PO4@COFs as the solid electrolyte membrane for proton exchange resulting in a maximum power density of 81 mW cm−2 and a maximum current density of 456 mA cm−2, which exceeds all previously reported COF materials.
The 9H‐9‐Borafluorene Dianion: A Surrogate for Elusive Diarylboryl Anion Nucleophiles
Authors: Gilmer Jannik , Budy Hendrik , Kaese Thomas , Bolte Michael , Lerner Hans‐Wolfram , Wagner Matthias 
Published: December 2019

AbstractDouble reduction of the THF adduct of 9H‐9‐borafluorene (1⋅THF) with excess alkali metal affords the dianion salts M2[1] in essentially quantitative yields (M=Li–K). Even though the added charge is stabilized through π delocalization, [1]2− acts as a formal boron nucleophile toward organoboron (1⋅THF) and tetrel halide electrophiles (MeCl, Et3SiCl, Me3SnCl) to form B−B/C/Si/Sn bonds. The substrate dependence of open‐shell versus closed‐shell pathways has been investigated.
Fabrication of a Hydrogen‐Bonded Organic Framework Membrane through Solution Processing for Pressure‐Regulated Gas Separation
Authors: Feng Shou , Shang Yanxue , Wang Zhikun , Kang Zixi , Wang Rongming , Jiang Jianzhuang , Fan Lili , Fan Weidong , Liu Zhanning , Kong Guodong , Feng Yang , Hu Songqing , Guo Hailing , Sun Daofeng 
Published: December 2019

AbstractOrdered and flexible porous frameworks with solution processability are highly desirable to fabricate continuous and large‐scale membranes for the efficient gas separation. Herein, the first microporous hydrogen‐bonded organic framework (HOF) membrane has been fabricated by an optimized solution‐processing technique. The framework exhibits the superior stability because of the abundant hydrogen bonds and strong π–π interactions. Thanks to the flexible HOF structure, the membrane possesses the unprecedented pressure‐responsive H2/N2 separation performance. Furthermore, the scratched membrane can be healed by the treatment of solvent vapor, achieving the recovery of separation performance.
A Hydrolytically Stable Vanadium(IV) Metal–Organic Framework with Photocatalytic Bacteriostatic Activity for Autonomous Indoor Humidity Control
Authors: Ma Dou , Li Ping , Duan Xiangyu , Li Jiazhen , Shao Pengpeng , Lang Zhongling , Bao Lixia , Zhang Yuanyuan , Lin Zhengguo , Wang Bo 
Published: December 2019

AbstractMetal–organic frameworks (MOFs) with long‐term stability and reversible high water uptake properties can be ideal candidates for water harvesting and indoor humidity control. Now, a mesoporous and highly stable MOF, BIT‐66 is presented that has indoor humidity control capability and a photocatalytic bacteriostatic effect. BIT‐66 (V3(O)3(H2O)(BTB)2), possesses prominent moisture tunability in the range of 45–60 % RH and a water uptake and working capacity of 71 and 55 wt %, respectively, showing good recyclability and excellent performance in water adsorption–desorption cycles. Importantly, this MOF demonstrates a unique photocatalytic bacteriostatic behavior under visible light, which can effectively ameliorate the bacteria and/or mold breeding problem in water adsorbing materials.
Enhanced mechanical toughness of carbon nanofibrous‐coated surface modified Kevlar reinforced polyurethane/epoxy matrix hybrid composites
Authors: Chakraborty Debrup , Saha Sudipta , Dey Soumyajyoti , Pramanik Sumit 
Published: December 2019

ABSTRACTHigh‐performance Kevlar fiber had extensively been explored to upgraded mechanical properties of the advanced composites. Therefore, this study aimed a challenging work to grow carbon nanofibers onto the Kevlar fiber to improve its fiber‐matrix interaction properties. It was successfully done through inexpensive flame deposition as well as modification of matrix with hybrid resin using polyurethane‐epoxy mixture. A hand‐layup method had been adopted to manufacture the composite laminates. The chemical and surface structures of the prepared laminae were examined by scanning electron microscopy, Raman spectroscopy, X‐ray diffraction, and the composite's properties were evaluated tensile test, compact tension (CT) fracture test, fractography, and differential scanning calorimetry. The surface modified Kevlar laminae with CNF were used as reinforcing layer in the epoxy and PU/epoxy hybrid resin matrices. CNF‐coated heated Kevlar reinforced laminated PU/epoxy hybrid composites (CNF‐Kev/PU‐Epoxy) showed highest elongation 47% and fracture toughness (11.7 MPa√m) along with good UTS 139 MPa. Therefore, these hybrid nanocomposites developed by simple inexpensive method would be the potential candidates for several advanced applications particularly in defense, automobile, aerospace, and spacecraft applications. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2020, 137, 48802.
Poly(vinyl alcohol) triggers Au nanoparticles formation for near‐infrared radiation‐responsive gels and nanofibers
Authors: Alvarez‐Lorenzo Carmen , Mayo‐Olveira Fátima , Barbosa Silvia , Taboada Pablo , Concheiro Angel 
Published: December 2019

ABSTRACTThe capability of poly(vinyl alcohol) (PVA) to reduce noble metal ions and, in turn, to prepare one‐step hybrid systems that exhibit near‐infrared radiation (NIR) light‐responsiveness has been barely explored. The aim of this work was to elucidate whether gold nanoparticles (Au NPs) could be spontaneously formed in PVA gels suitable to be used as syringeable depots or to prepare electrospun nanofibers. To check the hypothesis of that the gold counterion may play a role in the Au NPs formation process, two different gold salts (HAuCl4 and AuAc3) were used. Localized surface plasmon resonance bands were monitored during the incubation of PVA‐gold salt gels, and the photoresponsive capability of the newly formed Au NPs inside gels was investigated during laser irradiation at 808 nm. HET‐CAM assay suggested good biocompatibility. Then, the feasibility of producing electrospun hybrid PVA‐based mats that exhibit light‐responsive photothermal features was explored here for the first time. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2020, 137, 48811.
Simultaneously reinforcing and toughening poly(lactic acid) by incorporating reactive melt‐functionalized silica nanoparticles
Authors: Wang Bo , Zhang Xin , Zhang Lutong , Feng Yuezhan , Liu Chuntai , Shen Changyu 
Published: December 2019

ABSTRACTSimultaneously reinforcing and toughening poly(lactic acid) (PLA) was carried out by adding a small amount of functionalized SiO2 (f‐SiO2) with grafting degraded PLA chains in this work. Typically, the high shear force and high temperature condition of melt blending were employed to accelerate the degradation of PLA and graft the degraded PLA chains onto SiO2.The structure characterizations revealed that large quantity of degraded PLA chains were grafted onto the surface of SiO2 by transesterification, condensation, and esterification reactions during melt blending. Due to the improvement in dispersion and interfacial interaction in PLA matrix, the f‐SiO2 exhibited an effective reinforcing and toughening effect for PLA, where the tensile strength, elongation at break, and impact toughness of PLA/f‐SiO2 nanocomposite increased by 14.9, 47.8, and 30.3% compared to neat PLA. Besides, the degree of crystallinity of PLA was significantly improved by the added f‐SiO2, which also contributed to improving mechanical properties. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2020, 137, 48834.
The Normative Unconscious Of Nations: A critical geopolitical and psychoanalytic perspectives on the United Nations Security Council's counterterrorism strategy
Authors: Khouri Lama Z. 
Published: December 2019

AbstractThis paper argues that the United Nations (UN) Security Council counterterrorism policies have largely failed because they did not address many of the conditions that make certain parts of the world a fertile ground for the emergence of terrorism, including the historical antecedents that lead to violence; the lingering and pervasive influence and hegemony of UN Security Council Members; the UN Security Council members' self‐serving and morally inconsistent exercise of their power of veto or in condemning violent acts perpetrated by Member States; and the double standard in the implementation of its policies (Barnett & Finnemore, 1999; Farer, 2002; Glennon, 2003). Utilizing a critical geopolitical perspective, as well as the conceptualizations of the “normative unconscious” (Layton, 2002, 2006) and the “absent referent” (Adams, 1990) of and Benjamin's framework of witnessing and the “moral third” (Benjamin, 2018). The paper further argues that much of what is taken as the status quo in United Nations Security Council counterterrorism policies is derived from ideological principles that were ultimately created in the service of the state apparatuses (and their signature exploitative practices) that governments unconsciously feel compelled to sustain. By making explicit these proclivities, and exposing terrorists as the absent referent of the United Nations Security Council's discussions, the paper offers a psychoanalytic framework to explain the logic behind such counterterrorism policies. Further, following Benjamin, the paper suggests that by moving away from Eurocentric, zero‐sum, and colonial logic, there may be a way to organically recognize populations that are aggrieved by these state apparatuses in a way that could obviate the use of political violence and, inter alia, terrorism.
Development of efficient RNAi in Nezara viridula for use in insecticide target discovery
Authors: Riga Maria , Denecke Shane , Livadaras Ioannis , Geibel Sven , Nauen Ralf , Vontas John 
Published: December 2019

AbstractStink bugs are an emerging pest in many regions of the world but their molecular biology is still poorly understood. While several transcriptomes are available, the lack of validated gene manipulation tools like RNA interference (RNAi) in species such as the southern green stinkbug Nezara viridula precludes the characterization of individual genes in vivo. Such tools are particularly useful in performing high‐throughput screens to search for essential genes that can be prioritized as potential insecticide targets. Here, we developed and optimized an efficient RNAi in N. viridula for use in insecticide target discovery and beyond. The visible marker Sex combs reduced and the essential gene Actin were used to verify the usability and efficiency of RNAi by microinjection at both the adult and nymphal stages, respectively, with nymphal approach presenting significant advantages. Following validation, RNAi was then used to measure lethality following the knockdown (KD) of two genes that are known insecticide targets, Chitin synthase, and Acetyl‐CoA carboxylase. The KD of each gene resulted in >75% corrected mortality. These results indicate that RNAi is an effective tool in N. viridula and set a benchmark to evaluate potential targets in future RNAi screens aimed at insecticide target discovery.
Facile Fabrication of Ce/V‐Modified Multi‐Channel TiO2 Nanotubes and Their Enhanced Selective Catalytic Reduction Performance
Authors: Huang Xiaosheng , Zhang Guodong , Tang Zhicheng 
Published: December 2019

AbstractTo optimize one‐dimensional (1D) TiO2 nanofibers, tailor‐made multi‐channel TiO2 nanotubes have been successfully fabricated by electrospinning technology. After loading with Ce and V, the CeVTi‐tube catalyst exhibited a broad working temperature window and acceptable resistance to H2O and SO2 for elimination of NOx. The corresponding analysis revealed that the multi‐channel structure provided more surface adsorbed oxygen species and that the wall of nanotubes anchored active components efficiently, which was beneficial to improve the stability as well as dispersion of the active components. Besides, a synergistic effect between Ce and V easily occurred at the CeVTi‐tube catalyst, and its reducibility was significantly improved since the electron transformation between Ce and V was dramatically enhanced. Consequently, the tailor‐made multi‐channel CeVTi‐tube catalyst exhibited satisfied de‐NOx efficiency at the temperature range of 220–460 °C. It seemed that the multi‐channel TiO2 nanotubes hold great potential as an excellent carrier for SCR catalysts.
Laparoscopic proximal gastrectomy with double-flap technique versus laparoscopic subtotal gastrectomy for proximal early gastric cancer
Authors: Kano Y , Ohashi M , Ida S , Kumagai K , Sano T , Hiki N , Nunobe S 
Published: December 2019

Abstract

Background
Laparoscopic proximal gastrectomy with double-flap technique (LPG-DFT) and laparoscopic subtotal gastrectomy (LSTG) may replace laparoscopic total gastrectomy (LTG) for proximal early gastric cancer. The aim of this study was to evaluate short- and long-term outcomes after LPG-DFT and LSTG.

Methods
Patients who underwent LPG-DFT or LSTG at the Cancer Institute Hospital in Tokyo between January 2006 and April 2015 were included in this retrospective study. Operative procedures were selected based on the distance from the cardia to the proximal boundary of the tumour, tumour location and predicted remnant stomach volume. Patient characteristics, surgical data, markers of postoperative nutritional status, such as blood chemistry and bodyweight loss, and endoscopic findings were compared between procedures. The main study outcome was nutritional status.

Results
A total of 161 patients (LPG-DFT 51, LSTG 110) were included. Types of postoperative complication occurring more than 30 days after surgery differed between the two procedures. Remnant stomach ulcers, including anastomotic ulcers, were observed only after LPG-DFT, whereas complications involving the small intestine, such as internal hernia or small bowel obstruction, occurred more frequently after LSTG. Values for total protein, albumin, prealbumin and bodyweight loss were comparable between the two procedures at 36 months after surgery. Haemoglobin concentrations were higher after LPG-DFT than after LSTG at 24 months (13·4 versus 12·8 g/dl respectively; P = 0·045) and 36 months (13·5 versus 12·8 g/dl; P = 0·007) after surgery. The rate of Los Angeles grade B or more severe reflux oesophagitis was comparable.

Conclusion
LPG-DFT and LSTG for proximal early gastric cancer have similar outcomes, but different types of complication.