bluuebunny/crossref_metadata_2025 huggingface dataset:
Large and fast human pyramidal neurons associate with intelligence
Authors: Goriounova Natalia A , Heyer Djai B , Wilbers René , Verhoog Matthijs B , Giugliano Michele , Verbist Christophe , Obermayer Joshua , Kerkhofs Amber , Smeding Harriët , Verberne Maaike , Idema Sander , Baayen Johannes C , Pieneman Anton W , de Kock Christiaan PJ , Klein Martin , Mansvelder Huibert D
Published: December 2018

It is generally assumed that human intelligence relies on efficient processing by neurons in our brain. Although grey matter thickness and activity of temporal and frontal cortical areas correlate with IQ scores, no direct evidence exists that links structural and physiological properties of neurons to human intelligence. Here, we find that high IQ scores and large temporal cortical thickness associate with larger, more complex dendrites of human pyramidal neurons. We show in silico that larger dendritic trees enable pyramidal neurons to track activity of synaptic inputs with higher temporal precision, due to fast action potential kinetics. Indeed, we find that human pyramidal neurons of individuals with higher IQ scores sustain fast action potential kinetics during repeated firing. These findings provide the first evidence that human intelligence is associated with neuronal complexity, action potential kinetics and efficient information transfer from inputs to output within cortical neurons.
Let’s replay
Authors: Rasch Björn
Published: December 2018

Reactivating brain activity patterns during sleep enhances memory performance the next day.
PERCEPÇÕES DE DOCENTES SOBRE O ENSINO MÉDIO POLITÉCNICO: DESAFIOS PARA A FORMAÇÃO PELA PESQUISA
Authors: De Almeida Cristiane , De Oliveira Boff Eva Teresinha
Published: December 2018

Este artigo é um recorte de pesquisa de Mestrado e tem como objetivo discutir as percepções de docentes de educação básica sobre a introdução do Ensino Médio Politécnico (EMP) em uma escola estadual do Rio Grande do Sul (RS), bem como suas dificuldades/desafios para articular os conteúdos disciplinares com as pesquisas dos estudantes realizadas no Seminário Integrado (SI). A proposta visou qualificar o ensino por meio de processos de formação pela pesquisa, com a integração das áreas do conhecimento e o mundo do trabalho. Os dados foram obtidos por meio de diálogos e questionário respondido pelos docentes; estes compartilharam seus limites e desafios enfrentados para articular a pesquisa com suas práticas pedagógicas e discutiram alternativas para viabilizar a proposta a partir da formação continuada no coletivo na escola.
Genetic diversity at the Major Histocompatibility Complex class II DZB gene, and geographical distribution of alleles, in platypuses in a Tasmanian river catchment.
Authors: Macgregor J.W. , Holyoake C. , Munks S. , Connolly J.H. , Robertson I.D. , Fleming P.A. , Warren K.
Published: December 2018

Genetic diversity at loci concerned with fitness is an important part of the ability of a wild population to adapt to changes in its environment, including climatic events, disease and pollution. Research into the effects of genetic diversity on the impacts of disease on wildlife populations has focussed on genes of the major histocompatibility complex (MHC). This study investigated the genetic diversity at the MHC class II DZB gene, as well as the distribution of alleles of the same gene, for platypuses Ornithorhynchus anatinus in the Seabrook Creek Catchment in northwest Tasmania. This study detected 10 previously identified alleles and two previously unreported alleles at the MHC Class II DZB locus in 18 platypuses from the Seabrook Creek Catchment. An additional sequence isolated from two individuals was consistent with a pseudogene. Alleles were reasonably well distributed geographically through the catchment, but there was evidence of a degree of isolation at one site. Consistent with evidence that smaller wildlife populations have relatively low genetic diversity, and that there is relatively slow gene flow between river catchments, the observed genetic diversity at the MHC Class II locus was lower than those in larger previously studied river catchments but higher than those in two island populations. Consequently, this population of platypuses may have a limited capacity to respond to new infectious challenges, such as the fungal disease mucormycosis.
Perfil clínico e nutricional de pacientes hospitalizados acometidos por acidente vascular cerebral
Authors: De Freitas Jordana Nayara Zandonai , Schiessel Dalton Luiz , Macedo Darla Silvério , Mazur Caryna Eurich
Published: December 2018

O objetivo desse trabalho foi traçar o perfil clínico e nutricional de pacientes acometidos por acidente vascular cerebral (AVC). Trata-se de estudo retrospectivo realizado em prontuários de pacientes internados em Hospitais de Guarapuava, Paraná no período de maio a setembro de 2016.  Foram aferidos peso e estatura, e posteriormente calculado o índice de massa corporal (IMC). Ainda foi avaliada circunferência do braço (CB), aceitação da dieta e dieta prescrita pelo nutricionista. Para análise dos dados obtidos foi realizada estatística descritiva e também inferência estatística. Foram avaliados 28 pacientes que sofreram AVC, com média de idade 66,2±16,3 anos, 75% da amostra constituída por idosos e 50% do sexo feminino. A dieta oferecida com maior frequência nesses pacientes foi a dieta via terapia nutricional por meio de sonda (35,7%); 42,9% (N=12) foram classificados como eutróficos e 39,3% (n=11) como desnutridos. Assim, foi possível observar que desnutrição foi significativa nessa amostra, mas em sua maioria prevaleceu a eutrofia, a rejeição da dieta hospitalar foi marcante principalmente em pacientes com desnutrição, percebe-se que pacientes acometidos de AVC são vulneráveis a presença de risco nutricional.
Sensibilidade in vitro a antimicrobianos de Corynebacterium pseudotuberculosis isolados de pequenos ruminantes da região Centro-Norte do Estado da Bahia
Authors: Mattos Maiana Maria , Santos Laerte Marlon , Portela Ricardo Wagner , Araújo Roberto Paulo Correia de
Published: December 2018

Introdução: Corynebacterium pseudotuberculosis é uma bactéria com importância em medicina veterinária por ser o agente etiológico da Linfadenite Caseosa (LC) em pequenos ruminantes. A doença leva a perdas econômicas devido a condenação de carcaças, diminuição de produtividade e redução do valor comercial do couro dos animais acometidos. O tratamento da doença é pouco eficaz, pois os agentes antimicrobianos não conseguem atravessar a barreira dos granulomas, mas tem sido proposta a inoculação intracapsular de antibióticos como tratamento e como medida de prevenção de contaminação ambiental. Objetivo: Devido a esse fato, o presente estudo teve como objetivo avaliar a sensibilidade in vitro de isolados clínicos de Corynebacterium pseudotuberculosis isolados de animais da região Centro-Norte do estado da Bahia. Metodologia: Foram retirados material de granulomas de 11 animais de uma fazenda na região acima mencionada, e as bactérias foram isoladas a partir desse material. Esses isolados então foram submetidos a metodologia de difusão em disco de ágar utilizando-se discos impregnados com doze antibióticos diferentes. Resultados: 90,9% (10/11) dos isolados foram resistentes a oxacilina. Com relação à sensibilidade, 100% dos isolados foram sensíveis a ampicilina, amicacina, amoxicilina, cefalotina, ceftriaxona, ciprofloxacina, enrofloxacina, neomicina e penicilina, enquanto 90,9% destes apresentaram sensibilidade a bactericina e doxiciclina. Conclusão: Pode-se concluir que os isolados de C. pseudotuberculosis da região estudada apresentam sensibilidade a diversos antibióticos, o que pode facilitar na escolha de um antimicrobiano com menor toxicidade para fins de tratamento com inoculação intracapsular do medicamento.
Avaliação in vitro do potencial cariogênico e erosivo de corticosteroide de uso tópico
Authors: Freire Tila Fortuna Costa , Campos Elisângela De Jesus , Martins Gabriela Botelho
Published: December 2018

Introdução: o tratamento com bochechos de dexametasona elixir é bastante descrito na literatura para casos de lesões erosivas e ulceradas em mucosa bucal. Excipientes acrescentados aos medicamentos os tornam mais palatáveis e estáveis, embora possam resultar em efeitos adversos que comprometem a saúde bucal. Objetivo: este estudo propôs-se a avaliar, in vitro, o pH, a acidez total titulável (ATT) e o teor de sólidos solúveis totais (SST) de diferentes marcas de dexametasona elixir disponíveis no mercado da cidade de Salvador, correlacionando-os ao potencial erosivo e cariogênico do medicamento para os dentes. Metodologia: seis marcas (A, B, C, D, E e F)  de laboratórios distintos foram incluídas neste estudo. O valor do pH foi aferido utilizando-se pHmetro e agitador magnético; a ATT foi determinada adicionando-se hidróxido de sódio (NaOH) 0,1 N e a aferição do SST foi através de refratômetro. Os dados foram expressos em valores médios e desvios padrão. Resultados: o pH de todas as marcas investigadas apresentou medidas abaixo de 5,5, logo, todas apresentaram potencial erosivo. Na avaliação da ATT, maior volume de NaOH 0,1N foi necessário pela marca D para alcançar pH 5,5 e 7,0. Dentre as marcas investigadas, a marca B foi a que apresentou maior teor de SST em sua composição. Conclusão:  soluções para uso local de dexametasona elixir possuem potencial erosivo e alto teor de SST, tornando-se, então, importante a orientação de instrução de higiene oral dos pacientes que possuem maior risco de desenvolver alterações dentárias.
Highly Efficient Sn/Pb Binary Perovskite Solar Cell via Precursor Engineering: A Two‐Step Fabrication Process
Authors: Lian Xiaomei , Chen Jiehuan , Zhang Yingzhu , Qin Minchao , Li Jun , Tian Shuoxun , Yang Weitao , Lu Xinhui , Wu Gang , Chen Hongzheng
Published: December 2018

Regulation of the crystallization of perovskite films and avoiding the oxidation of Sn2+ during the deposition process are very important for achieving Sn/Pb binary perovskite solar cells (PVSCs) with high power conversion efficiency (PCE) and producibility. In this work, a high‐quality HC(NH2)2Pb0.7Sn0.3I3 (FAPb0.7Sn0.3I3) film deposited from the two‐step solution process by introducing methylammonium thiocyanate (MASCN) as a bifunctional additive into the precursor solution containing PbI2 and SnI2 is reported. MASCN can not only tune the morphology of the perovskite film but also stabilize the precursor solution via retarding the oxidation of Sn2+ through a strong coordination between SCN− and Sn2+. The Sn/Pb binary inverted PVSCs based on FAPb0.7Sn0.3I3 present a high fill factor of 0.79 and the best PCE of 16.26% in the case of 0.25 MASCN addition. The device fabrication producibility is also greatly improved due to the stabilized precursor solution with the aid of MASCN. The PCE of the device is almost independent of the storage time of the precursor solution within 124 d in the N2‐filled glove box. These results indicate that the precursor engineering with multifunctionality additive is an effective approach toward highly efficient and producible PVSCs for future commercialization.
Control of Crystal Growth toward Scalable Fabrication of Perovskite Solar Cells
Authors: Lee Jin‐Wook , Lee Do‐Kyoung , Jeong Dong‐Nyuk , Park Nam‐Gyu
Published: December 2018

With the impressive record power conversion efficiency (PCE) of perovskite solar cells exceeding 23%, research focus now shifts onto issues closely related to commercialization. One of the critical hurdles is to minimize the cell‐to‐module PCE loss while the device is being developed on a large scale. Since a solution‐based spin‐coating process is limited to scalability, establishment of a scalable deposition process of perovskite layers is a prerequisite for large‐area perovskite solar modules. Herein, this paper reports on the recent progress of large‐area perovskite solar cells. A deeper understanding of the crystallization of perovskite films is indeed essential for large‐area perovskite film formation. Various large‐area coating methods are proposed including blade, slot‐die, evaporation, and post‐treatment, where blade‐coating and gas post‐treatment have so far demonstrated better PCEs for an area larger than 10 cm2. However, PCE loss rate is estimated to be 1.4 × 10−2% cm−2, which is 82 and 3.5 times higher than crystalline Si (1.7 × 10−4% cm−2) and thin film technologies (≈4 × 10−3% cm−2) respectively. Therefore, minimizing PCE loss upon scaling‐up is expected to lead to PCE over 20% in case of cell efficiency of >23%.
Nanoscale Structure Design for High‐Performance Pt‐Based ORR Catalysts
Authors: Liu Meiling , Zhao Zipeng , Duan Xiangfeng , Huang Yu
Published: December 2018

Proton‐exchange‐membrane fuel cells (PEMFCs) are of considerable interest for direct chemical‐to‐electrical energy conversion and may represent an ultimate solution for mobile power supply. However, PEMFCs today are primarily limited by the sluggish kinetics of the cathodic oxygen reduction reaction (ORR), which requires a significant amount of Pt‐based catalyst with a substantial contribution to the overall cost. Hence, promoting the activity and stability of the needed catalyst and minimizing the amount of Pt loaded are central to reducing the cost of PEMFCs for commercial deployment. Considerable efforts have been devoted to improving the catalytic performance of Pt‐based ORR catalysts, including the development of various Pt nanostructures with tunable sizes and chemical compositions, controlled shapes with selectively displayed crystallographic surfaces, tailored surface strains, surface doping, geometry engineering, and interface engineering. Herein, a brief introduction of some fundamentals of fuel cells and ORR catalysts with performance metrics is provided, followed by a detailed description of a series of strategies for pushing the limit of high‐performance Pt‐based catalysts. A brief perspective and new insights on the remaining challenges and future directions of Pt‐based ORR catalysts for fuel cells are also presented.
Nanocellulose for Energy Storage Systems: Beyond the Limits of Synthetic Materials
Authors: Kim Jung‐Hwan , Lee Donggue , Lee Yong‐Hyeok , Chen Wenshuai , Lee Sang‐Young
Published: December 2018

The ongoing surge in demand for high‐performance energy storage systems inspires the relentless pursuit of advanced materials and structures. Components of energy storage systems are generally based on inorganic/metal compounds, carbonaceous substances, and petroleum‐derived hydrocarbon chemicals. These traditional materials, however, may have difficulties fulfilling the ever‐increasing requirements of energy storage systems. Recently, nanocellulose has garnered considerable attention as an exceptional 1D element due to its natural abundance, environmental friendliness, recyclability, structural uniqueness, facile modification, and dimensional stability. Recent advances and future outlooks of nanocellulose as a green material for energy storage systems are described, with a focus on its application in supercapacitors, lithium‐ion batteries (LIBs), and post‐LIBs. Nanocellulose is typically classified as cellulose nanofibril (CNF), cellulose nanocrystal (CNC), and bacterial cellulose (BC). The unusual 1D structure and chemical functionalities of nanocellulose bring unprecedented benefits to the fabrication and performance of energy storage materials and systems, which lie far beyond those achievable with conventional synthetic materials. It is believed that this progress report can stimulate research interests in nanocellulose as a promising material, eventually widening material horizons for the development of next‐generation energy storage systems, that will lead us closer to so‐called Battery‐of‐Things (BoT) era.
Exciton‐Induced Degradation of Hole Transport Layers and Its Effect on the Efficiency and Stability of Phosphorescent Organic Light‐Emitting Devices
Authors: Yu Hyeonghwa , Aziz Hany
Published: December 2018

The effect of exciton‐induced degradation of hole transport layers (HTLs) and its influence on efficiency and stability of phosphorescent organic light emitting devices (PhOLEDs) are investigated. In order to be able to isolate and study the effect of excitons on HTLs, UV illumination as a means to expose them to exciton stress is used. Results reveal that exciton stress of only the HTLs can lead to a significant deterioration in the electroluminescence external quantum efficiency and stability of PhOLEDs, revealing the detrimental role of exciton‐induced degradation of HTLs in limiting the device performance. The creation of quenchers in HTLs and the diffusion of excitons from the HTL to the EML appear to play roles in this degradation mechanism. Observations reveal that exciton‐induced degradation of HTLs more strongly impacts PhOLEDs than their fluorescent counterparts, revealing the more critical role that HTLs play in influencing their stability and pointing to the role of triplet excitons in this phenomenon. Observations also suggest that increasing the exciton stability of HTLs or reducing exciton lifetime in them can help increase device stability. The findings uncover a new degradation mode in PhOLEDs and provide key insights for device design for realizing better performance and stability.
Photonic Nanostructures from Hexagonal Boron Nitride
Authors: Fröch Johannes E. , Hwang Yongsop , Kim Sejeong , Aharonovich Igor , Toth Milos
Published: December 2018

Growing interest in devices based on layered van der Waals (vdW) materials is motivating the development of new nanofabrication methods. Hexagonal boron nitride (hBN) is one of the most promising materials for studies of quantum photonics and phonon polaritonics. A promising nanofabrication process used to fabricate several hBN photonic devices using a hybrid reactive ion etching (RIE) and electron beam‐induced etching (EBIE) technique is reported in detail here. The shortcomings and benefits of RIE and EBIE are highlighted and the utility of the hybrid approach for the fabrication of suspended and supported device structures with nanoscale features and highly vertical sidewalls are demonstrated. Functionality of the fabricated devices is proven by measurements of high‐quality cavity optical modes (Q ≈ 1500). This nanofabrication approach constitutes an advance toward an integrated, monolithic quantum photonics platform based on hBN and other layered vdW materials.
LTBP2‐related “Marfan‐like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
Authors: Morlino Silvia , Alesi Viola , Calì Federica , Lepri Francesca Romana , Secinaro Aurelio , Grammatico Paola , Novelli Antonio , Drago Fabrizio , Castori Marco , Baban Anwar
Published: December 2018

Recessive variants in LTBP2 are associated with eye‐restricted phenotypes including (a) primary congenital glaucoma and (b) microspherophakia/megalocornea and ectopia lentis with/without secondary glaucoma. Nosology of LTBP2 pathology in humans is apparently in contrast with the consolidated evidence of a wide expression of this gene in the developing embryo. Accordingly, in previously published patients with LTBP2‐related eye disease, additional extraocular findings have been occasionally reported and include, among others, high‐arched palate, tall stature, and variable cardiac involvement. Anyway, no emphasis was put on such systemic manifestations. Here, we report two unrelated Roma/Gypsy patients first ascertained for a multisystem disorder mainly characterized by primary congenital glaucoma, complex congenital heart defect, tall stature, long fingers, skin striae and dystrophic scarring, and resembling Marfan syndrome. Heart involvement was severe with polyvalvular heart dysplasia in one, and transposition of great arteries, thoracic arterial tortuosity, polyvalvular heart dysplasia, and neo‐aortic root dilatation in the other. Both patients were homozygous for the recurrent c.895C>T[p.(R299X)] variant, typically found in individuals of Roma/Gypsy descent with an eye‐restricted phenotype. Our findings point out LTBP2 as responsible of a systemic phenotype coherent with the community of syndromes related to anomalies in genes involved in the TGFβ‐pathway. Among these disorders, LTBP2‐related systemic disease emerges as a distinct condition with expanding prognostic implications and autosomal recessive inheritance.
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome
Authors: Alter Svenja , Hotz Alrun , Jahn Arne , Di Donato Nataliya , Schröck Evelin , Smitka Martin , von der Hagen Maja , Schallner Jens , Menschikowski Mario , Gillitzer Claus , Laass Martin W. , Fischer Judith , Tzschach Andreas
Published: December 2018

Autosomal recessive keratoderma‐ichthyosis‐deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in VPS33B; only three patients have been reported to date. ARKID syndrome is allelic to arthrogryposis‐renal dysfunction‐cholestasis (ARC) syndrome (MIM #208085), a severe disorder with early lethality whose phenotypic characteristics also include ichthyosis, hearing loss, severe failure to thrive, platelet dysfunction and osteopenia. We report on an 11‐year‐old male patient with ARKID syndrome and compound heterozygous VPS33B mutations, one of which [c.1440delG; p.(Arg481Glyfs*11)] was novel. Clinical features of this patient included ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, unilateral hip dislocation, microcephaly and short stature. He also had copper hepatopathy and exocrine pancreatic insufficiency, features that have so far been associated with neither ARKID nor ARC syndrome. The patient broadens the clinical and molecular spectrum of ARKID syndrome and contributes to genotype–phenotype associations of this rare disorder.
A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes
Authors: Giorgio Elisa , Sirchia Fabio , Bosco Martino , Sobreira Nara Lygia M. ,   Baylor‐Hopkins Center for Mendelian Genomics, Grosso Enrico , Brussino Alessandro , Brusco Alfredo
Published: December 2018

Greenberg skeletal dysplasia is an autosomal recessive, perinatal lethal disorder associated with biallelic variants affecting the lamin B receptor (LBR) gene. LBR is also associated with the autosomal recessive anadysplasia‐like spondylometaphyseal dysplasia, and the autosomal dominant Pelger–Huët anomaly, a benign laminopathy characterized by anomalies in the nuclear shape of blood granulocytes. The LBR is an inner nuclear membrane protein that binds lamin B proteins (LMNB1 and LMNB2), interacts with chromatin, and exerts a sterol reductase activity. Here, we report on a novel LBR missense variant [c.1379A>G; p.(D460R)], identified by whole exome sequencing and causing Greenberg dysplasia in two fetuses from a consanguineous Moroccan family. We revised published LBR variants to propose a genotype–phenotype correlation in LBR associated diseases. The diverse phenotypes are correlated to the functional domain affected, the heterozygous or homozygous state of the variants, and their different impact on the residual protein function. LBR represents an instructive example of one gene presenting with two different patterns of inheritance and at least three different clinical phenotypes.
Ammonia Synthesis Under Ambient Conditions: Selective Electroreduction of Dinitrogen to Ammonia on Black Phosphorus Nanosheets
Authors: Zhang Lili , Ding Liang‐Xin , Chen Gao‐Feng , Yang Xianfeng , Wang Haihui
Published: December 2018

Constructing efficient catalysts for the N2 reduction reaction (NRR) is a major challenge for artificial nitrogen fixation under ambient conditions. Herein, inspired by the principle of “like dissolves like”, it is demonstrated that a member of the nitrogen family, well‐exfoliated few‐layer black phosphorus nanosheets (FL‐BP NSs), can be used as an efficient nonmetallic catalyst for electrochemical nitrogen reduction. The catalyst can achieve a high ammonia yield of 31.37 μg h−1 mg−1cat. under ambient conditions. Density functional theory calculations reveal that the active orbital and electrons of zigzag and diff‐zigzag type edges of FL‐BP NSs enable selective electrocatalysis of N2 to NH3 via an alternating hydrogenation pathway. This work proves the feasibility of using a nonmetallic simple substance as a nitrogen‐fixing catalyst and thus opening a new avenue towards the development of more efficient metal‐free catalysts.
Structural and Electronic Effects of Stepwise Reduction of a Tetraaryl[3]Cumulene
Authors: Spisak Sarah N. , Bühringer Martina U. , Wei Zheng , Zhou Zheng , Tykwinski Rik R. , Petrukhina Marina A.
Published: December 2018

The chemical reduction of a [3]cumulene ([3]TrTol) has been explored using alkali metals. Mono‐ and doubly reduced forms of [3]TrTol were isolated as solvent‐separated ion pairs with {Na(18‐crown‐6)THF2}+ and {K(18‐crown‐6)THF2}+ counterions and crystallographically characterized. This allowed analysis of structural parameters of the “naked” anions of [3]TrTol without interference from metal binding. The dianion of [3]TrTol was also isolated as a contact‐ion complex with {Cs(18‐crown‐6)}+ cations, thereby adding the effect of metal coordination to the core. Structural comparisons of anions to the neutral molecule, [3]TrTol, outline monotonic increases in bond‐length alternation (BLA) upon stepwise reduction. The greatest BLA value is found for the contact‐ion complex, which shows an alternating sequence of short and long carbon–carbon bonds, consistent with the structure of an alkyne. In contrast to studies on tetraphenyl[3]cumulene, the cumulenic framework of [3]TrTol remains planar in all the derivatives.
Integrative analysis of transcriptome‐wide association study and mRNA expression profiles identifies candidate genes associated with autism spectrum disorders
Authors: Huang Huimei , Cheng Shiqiang , Ding Miao , Wen Yan , Ma Mei , Zhang Lu , Li Ping , Cheng Bolun , Liang Xiao , Liu Li , Du Yanan , Zhao Yan , Kafle Om Prakash , Han Bei , Zhang Feng
Published: December 2018

Autism spectrum disorders (ASD) are a group of highly heritable psychiatric syndromes with high prevalence. The genetic mechanism of ASD remains elusive now. Here we conducted a transcriptome‐wide association study (TWAS) of ASD. The GWAS summary data of ASD was driven from the Psychiatric Genomics Consortium (PGC) portal, totally involving 5,305 ASD cases and 5,305 controls. FUSION software was applied to the GWAS summary data for tissue‐related TWAS of ASD considering brain and blood. The ASD associated genes identified by TWAS were further validated by mRNA expression profiling of ASD and the Simons Foundation for Autism Research (SFARI) Gene tool. DAVID 6.8 was used to perform gene ontology (GO) enrichment analysis of ASD associated genes identified by TWAS. TWAS identified 85 genes with TWAS P value <0.05 for ASD. Further comparing the 85 genes with the differentially expressed genes identified by mRNA expression profiling of ASD patients found 5 overlapped genes, including MUTYH (PTWAS = 0.0460, PmRNA = 0.0040), ARHGAP27 (PTWAS = 0.0100, PmRNA = 0.0016), GCA (PTWAS = 0.0480, PmRNA = 0.0063), CCDC14 (PTWAS = 0.0067, PmRNA = 0.0035), and MED15 (PTWAS = 0.0324, PmRNA = 0.0092). Gene Ontology (GO) enrichment analysis of the genes identified by TWAS detected 10 significant GO terms, such as mitochondrion (P = 0.0051), NAD or NADH binding (P = 0.0169), mitochondrial part (P = 0.0386) and 2‐oxoglutarate metabolic process (P = 0.0399). In conclusion, this study identified multiple ASD associated genes and gene sets, providing novel clues for revealing the pathogenesis of ASD. Autism Research 2019, 12: 33–38. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

Lay Summary

Recent genetic studies of autism spectrum disorders (ASD) have found multiple ASD related genes. However, the results of these studies were hardly replicated with each other, providing limited clues for exploring the genetic mechanism of ASD. This study detected a group of candidate genes showing transcriptome‐wide associations with ASD. These results may provide novel clues for revealing the pathogenesis of ASD.
Accuracy of residential water meters in response to short, intermittent flows
Authors: Chadwick John R. , Barfuss Steven L. , Johnson Michael C.
Published: December 2018

The purpose of this study was to measure the accuracy of residential water meters in response to short, intermittent flows. A gravimetric test bench was used as a standard to test 5/8″ × 3/4″ ultrasonic (US), electromagnetic (EM), nutating disc (ND), and oscillating piston (OP) meters. A programmable solenoid valve was used to create burst flow cycles. Three cycles of defined times were included in the study when the solenoid valve was open and closed and, subsequently, when water was flowing and not flowing—creating short, intermittent flows. Accuracies of water meters were tested at three flow rates: 4, 2, and 0.25 gpm. It was found that some of the US meters were affected by burst flows. EM meters were essentially unaffected by any burst flows. The accuracies of the ND and OP meters at the lowest flow tested were affected by burst flows.
Mid‐region parathyroid hormone‐related protein is a genome‐wide chromatin‐binding factor that promotes growth and differentiation of HB2 epithelial cells from the human breast
Authors: Luparello Claudio , Librizzi Mariangela , Asaro Dalia M. L. , Cruciata Ilenia , Caradonna Fabio
Published: December 2018

Human parathyroid hormone‐related protein (PTHrP) is a polyhormone that undergoes proteolytic cleavage producing smaller peptides which exert diversified biological effects. PTHrP signalization is prominently involved in breast development and physiology, but the studies have been focused onto either N‐terminal species or full‐length protein introduced by gene transfer techniques. Our present work investigates for the first time the effect of the mid‐region PTHrP secretory form, that is, the fragment [38–94], on HB2 non‐tumoral breast epithelial cells. We examined viability/proliferation of cells grown in PTHrP‐containing media supplemented with different serum concentration and on different substrates, extending our investigation to check whether (a) by analogy with MDA‐MB231 cells, also HB2 cell chromatin possesses genome‐wide binding sites for mid‐region PTHrP, and (b) the peptide is endowed with modulating properties toward the expression of proliferation/differentiation signatures by HB2 cells. Our results indicate that mid‐region PTHrP acts as a cell growth/differentiation stimulator in routine and “nutrient stress” culture conditions, accordingly reprogramming gene expression, and is able to bind to cytogenetic preparations from HB2 cells. This supports the concept that the physiological mechanisms involving PTHrP during breast development may include mature processed forms of the protein different from the N‐terminal fragment. © 2018 BioFactors, 45(2):279–288, 2019
Vibrotactile sensitivity of patients with HIV‐related sensory neuropathy: An exploratory study
Authors: Karpul David , McIntyre Sarah , van Schaik André , Breen Paul P. , Heckmann Jeannine M.
Published: December 2018

Background

HIV‐associated distal polyneuropathy (HIV‐PN) affects large and small sensory nerve fibers and can cause tactile insensitivity. This exploratory study forms part of an effort to apply subsensory electrical nerve stimulation (SENS) to improve tactile sensitivity of patients with HIV‐PN. This work presented an opportunity to use a robust protocol to quantitatively describe the vibrotactile sensitivity of individuals with HIV‐PN on effective antiretroviral therapy (ART) and correlate these findings with commonly used clinical vibration testing and scoring grades.

Methods

The vibration perception thresholds (VPTs) of 20 patients with HIV‐PN at three vibration frequencies (25, 50, and 128 Hz) were measured. We compare the vibration perception threshold (VPT) outcomes to an age‐ and gender‐matched control cohort. We further correlated VPT findings with 128 Hz tuning fork (TF) assessments performed on the HIV‐PN participants, accrued as part of a larger study. HIV‐PN was defined as having at least one distal symmetrical neuropathic sign, although 18 of 20 had at least two neuropathic signs.

Conclusions

HIV‐PN participants were found to have lower VPT sensitivity than controls for all three vibration frequencies, and VPT was more sensitive at higher vibration frequencies for both HIV‐PN and controls. VPT sensitivity was reduced with older age. Years on ART was correlated with VPT‐25 Hz but not with VPT in general. Notably, VPT sensitivity did not correlate with the clinically used 128 Hz TF severity grades. Outcomes of tests for interaction with vibration frequency suggest that HIV‐PN pathology does not affect all mechanoreceptors similarly.
Palladium‐Containing and Metal‐Free Supported Dendrons As Catalysts in Multistep Conversion of Oxygenates to Fuels
Authors: Lou Yueyun , Shantz Daniel F.
Published: December 2018

This article reports a three‐step process: 1) the hydrogenation of phenol, 2) aldol condensation between the cyclohexanone produced in reaction 1 and an aldehyde, and 3) hydrogenation of the aldol reaction product. This is achieved using palladium containing supported dendrons for reactions 1 and 3 and non‐metal containing supported dendrons for reaction 2. Palladium/dendron‐OMS catalyzes the phenol hydrogenation with a cyclohexanol yield of 85 %, the parent dendrons (no Pd) catalyze the Aldol reaction with over 80 % yield in some cases, and the Pd‐dendron samples can be used to hydrogenate the aldol coupling product at high yields, not dissimilar from what one observes from aqueous phase reforming (APR). The operating conditions of low temperature and low‐pressure hydrogen in aqueous media are consistent with green chemistry goals.
Electrochemical Water Oxidation in Acidic Solution Using Titanium Diboride (TiB2) Catalyst
Authors: Kirshenbaum Maxine J. , Richter Matthias H. , Dasog Mita
Published: December 2018

Electrochemical water oxidation is an important anodic process necessary to support many cathodic fuel forming processes. Inexpensive materials capable of water oxidation catalysis are necessary to render renewable energy technologies affordable. In this study, titanium diboride (TiB2) microparticles were explored as an oxygen‐evolution reaction (OER) electrocatalyst in 1.0 M HClO4. An overpotential of 560±20 mV was required to generate a current density of 10 mA cm−2 with a Faradaic efficiency >96 %. TiB2 exhibited a dissolution rate of 0.24 μg cm−2 h−1 which is the slowest rate observed to date for an earth‐abundant OER catalyst in acidic electrolyte at pH 0.
Hierarchy of Asymmetry in Chiral Supramolecular Polymers: Toward Functional, Helical Supramolecular Structures
Authors: Dorca Yeray , Greciano Elisa E. , Valera Jorge S. , Gómez Rafael , Sánchez Luis
Published: December 2018

The formation of helical structures through the supramolecular polymerization of a variety of self‐assembling units is reviewed. These scaffolds are usually obtained by efficient transfer or amplification of chirality phenomena, in which the starting self‐assembling molecules possess different elements of asymmetry, such as point or axial chirality. Relevant examples of helical supramolecular structures investigated under thermodynamic control are reviewed, and the helical outcome of remarkable examples of chiral entities obtained through kinetic control are also highlighted. Finally, selected examples of flexible macroscopic chirality and catalysis are described to illustrate the applicability of helical aggregates.
(Li6Si5)2–5: The Smallest Cluster‐Assembled Materials Based on Aromatic Si56− Rings
Authors: Yañez Osvaldo , Garcia Victor , Garza Jorge , Orellana Walter , Vásquez‐Espinal Alejandro , Tiznado William
Published: December 2018

Extensive explorations of their potential energy surfaces, combined with high‐level quantum chemical computations, strikingly show that the lowest energy structures of the (Li6Si5)2–5 systems consist of 2–5 Si56− aromatic units, surrounded by Li+ counterions, respectively. These viable gas‐phase compounds are the pioneering reported cases of oligomers made by planar aromatic silicon rings. Based on the key evidence that these oligomers are energetically favored, and that their silicon rings aromaticity is thoroughly preserved, the Li6Si5 cluster is proposed as a potential assembly unit to build silicon‐lithium nanostructures, thus opening new paths to design Zintl compounds at the nanoscale level.
Robust chemical process monitoring based on CDC‐MVT‐PCA eliminating outliers and optimally selecting principal component
Authors: Huang Junping , Yan Shifu , Yan Xuefeng
Published: December 2018

In chemical process monitoring based on principal component analysis (PCA), sampling data with outliers and optimally select principal components are two challenging problems that have a main effect on monitoring performance. Given this situation, firstly, a novel outlier detection method, i.e., a robust CDC‐MVT‐PCA method (CMP), which integrates CDC‐MVT (the closest distance to centre and multivariate trimming) with PCA to identify and eliminate the outliers, is proposed to clean sample data. Secondly, based on the cleaning sample data, PCA is employed to obtain PCs. The cumulative frequency representing the variability of each PC is defined to find the optimal PCs, which are able to represent the current variability information. Finally, selecting optimal PCs online based on the cumulative frequency of each PC (CF‐PCA) is proposed to keep the most responsive components and, thus, to improve the monitoring performance. The effectiveness of the proposed robust fault monitoring algorithm is verified through a simple numerical simulation and the Tennessee Eastman process.
Health care use during cancer survivorship: Review of 5 years of evidence
Authors: Kenzik Kelly M.
Published: December 2018

Improvements in treatment strategies have resulted in increasing survival rates among patients diagnosed with cancer but also result in a growing population of individuals who have greater health care needs. These needs will persist from diagnosis throughout the continuing phase of care, or the survivorship phase. To better define models of survivorship care, there must be a strong evidence base in survivor health care use patterns. The objective of this review, which covers studies from 2012 to January 2018, was to evaluate the available evidence on patterns of health care visits among survivors of adult cancers and to understand what is known about the rate of health care visits, the physician specialties associated with these visits, and/or the types health care settings (eg, outpatient, emergency room). The findings underscore the importance of primary care, with the majority of studies reporting that >90% of survivors visited a primary care provider in the prior year. Visits to oncologists and/or other physician specialties were positively associated with receiving cancer screenings and obtaining quality care for noncancer‐related conditions. High care density/low care fragmentation between physician specialties had lower costs and a lower likelihood of redundant health care utilization. The follow‐up in almost all studies was 3 years, providing short‐term evidence; however, as the survivorship period lengthens with improved treatments, longer follow‐up will be required. The long‐term patterns with which survivors of cancer engage the health care system are critical to designing long‐term follow‐up care plans that are effective in addressing the complex morbidity that survivors experience.
A phase 2 trial of regorafenib as a single agent in patients with chemotherapy‐refractory, advanced, and metastatic biliary tract adenocarcinoma
Authors: Sun Weijing , Patel Anuj , Normolle Daniel , Patel Krishna , Ohr James , Lee James J. , Bahary Nathan , Chu Edward , Streeter Natalie , Drummond Summer
Published: December 2018

Background

Biliary tract cancers are rare, aggressive neoplasms. Most patients present with advanced/unresectable or metastatic disease at diagnosis, and no second‐line regimen has demonstrated clinical benefit. This was a phase 2 study evaluating the efficacy and safety of regorafenib in patients who had advanced/unresectable or metastatic disease after receiving standard therapy.

Methods

In this single arm‐study, patients with advanced/unresectable or metastatic biliary tract cancer who failed at least 1 line of systemic chemotherapy received regorafenib once daily on a schedule of 21‐days on/7‐days off in a 28‐day cycle. Patients initially received a standard 160 mg dose. After toxicity assessments in the first 3 patients, the dose was reduced to 120 mg for subsequent patients, as preplanned. The primary endpoint was progression‐free survival (PFS). Secondary objectives included overall survival (OS), the objective response rate, and the disease control rate.

Results

Forty‐three patients received at least 1 dose of regorafenib, and 34 patients who received at least 1 cycle of treatment were evaluable for tumor response. The median PFS was 15.6 weeks (90% confidence interval, 12.9‐24.7 weeks), and the median OS was 31.8 weeks (90% confidence interval, 13.3‐74.3 weeks), with survival rates 40% at 12 months and 32% at 18 months. A partial response was achieved in 5 patients (11%), and 19 had stable disease (44%), for a disease control rate of 56%. The toxicity profile was as expected, with grade 3 and 4 adverse events reported in 40% of patients. The most common toxicities were hypophosphatemia (40%), hyperbilirubinemia (26%), hypertension (23%), and hand‐foot skin reaction (7%).

Conclusions

The current results suggest promising efficacy of regorafenib in patients with chemotherapy‐refractory, advanced/metastatic biliary tract cancer, warranting further studies to confirm its clinical efficacy. There is a clear unmet need for effective therapies in patients who have advanced and metastatic biliary tract cancer.
High prevalence of advanced colorectal neoplasia and serrated polyposis syndrome in Hodgkin lymphoma survivors
Authors: Rigter Lisanne S. , Spaander Manon C. W. , Aleman Berthe M. P. , Bisseling Tanya M. , Moons Leon M. , Cats Annemieke , Lugtenburg Pieternella J. , Janus Cecile P. M. , Petersen Eefke J. , Roesink Judith M. , van der Maazen Richard W. M. , Snaebjornsson Petur , Kuipers Ernst J. , Bruno Marco J. , Dekker Evelien , Meijer Gerrit A. , de Boer Jan Paul , van Leeuwen Flora E. , van Leerdam Monique E.
Published: December 2018

Background

Hodgkin lymphoma (HL) survivors treated with abdominal radiotherapy and/or alkylating chemotherapy have an increased risk of colorectal cancer (CRC). This study was aimed at evaluating the prevalence of colorectal neoplasia in HL survivors.

Methods

This multicenter cohort study assessed the diagnostic yield of advanced colorectal neoplasia detected by a first surveillance colonoscopy among HL survivors treated with abdominal radiotherapy and/or procarbazine. Advanced colorectal neoplasia included advanced adenomas (high‐grade dysplasia, ≥25% villous component, or ≥10‐mm diameter), advanced serrated lesions (dysplasia or ≥10‐mm diameter), and CRC. The results were compared with those for a Dutch general population cohort that underwent a primary screening colonoscopy (1426 asymptomatic individuals 50‐75 years old). This study demonstrated the results of a predefined interim analysis.

Results

A colonoscopy was performed in 101 HL survivors, who were significantly younger (median, 51 years; interquartile range [IQR], 45‐57 years) than the general population controls (median, 60 years; IQR, 55‐65 years; P < .001). The prevalence of advanced neoplasia was higher in HL survivors than controls (25 of 101 [25%] vs 171 of 1426 [12%]; P < .001). Advanced adenomas were detected in 14 of 101 HL survivors (14%) and in 124 of 1426 controls (9%; P = .08). The prevalence of advanced serrated lesions was higher in HL survivors than controls (12 of 101 [12%] vs 55 of 1426 [4%]; P < .001). Serrated polyposis syndrome was present in 6% of HL survivors and absent in controls (P < .001).

Conclusions

HL survivors treated with abdominal radiotherapy and/or procarbazine have a high prevalence of advanced colorectal neoplasia. The implementation of a colonoscopy surveillance program should be considered.
Visualizing uncertainty in habitat suitability models with the hyper‐envelope modeling interface, version 2
Authors: Graham James , Kimble Melissa
Published: December 2018

Habitat suitability models (HSMs) are popular and used for a wide variety of applications but most do not include analysis of the uncertainty of the model outputs. Additionally, some overfit the data and few allow the ability to fill data gaps with expert opinion. HEMI 1 addressed issues with overfitting data and allowed models to incorporate both occurrence data and expert opinion. HEMI 2 improves on HEMI 1 with a simplified interface and the ability to inject random noise into occurrence locations and environmental variable values to generate uncertainty maps. HEMI 2 uses Monte Carlo methods to perform uncertainty, validation, and sensitivity testing and generates mean and standard deviation habitat suitability maps.
Potential of a no‐take marine reserve to protect home ranges of anadromous brown trout (Salmo trutta)
Authors: Thorbjørnsen Susanna Huneide , Moland Even , Simpfendorfer Colin , Heupel Michelle , Knutsen Halvor , Olsen Esben Moland
Published: December 2018

The extent to which no‐take marine reserves can benefit anadromous species requires examination. Here, we used acoustic telemetry to investigate the spatial behavior of anadromous brown trout (sea trout, Salmo trutta) in relation to a small marine reserve (~1.5 km2) located inside a fjord on the Norwegian Skagerrak coast. On average, sea trout spent 42.3 % (±5.0% SE) of their time in the fjord within the reserve, a proportion similar to the area of the reserve relative to that of the fjord. On average, sea trout tagged inside the reserve received the most protection, although the level of protection decreased marginally with increasing home range size. Furthermore, individuals tagged outside the reserve received more protection with increasing home range size, potentially opposing selection toward smaller home range sizes inflicted on fish residing within reserves, or through selective fishing methods like angling. Monthly sea trout home ranges in the marine environment were on average smaller than the reserve, with a mean of 0.430 (±0.0265 SE) km2. Hence, the reserve is large enough to protect the full home range of some individuals residing in the reserve. Synthesis and applications: In general, the reserve protects sea trout to a varying degree depending on their individual behavior. These findings highlight evolutionary implications of spatial protection and can guide managers in the design of marine reserves and networks that preserve variation in target species' home range size and movement behavior.