bluuebunny/crossref_metadata_2025_split huggingface dataset:
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome
Authors: Gana Simone , Plumari Massimo , Rossi Elena , Saracino Annalisa , Iorio Melanie , Zanaboni Martina Paola , Orcesi Simona , Valente Enza Maria 
Published: September 2020

AbstractBiallelic mutations in the LARP7 gene have been recently shown to cause Alazami syndrome, a rare condition characterized by short stature, intellectual disability, and peculiar facial dysmorphisms. To date, only 24 cases have been reported. Here, we describe two brothers initially suspected to have Smith–Lemli–Opitz syndrome, in whom clinical exome sequencing detected a novel homozygous truncating variant in LARP7. These cases expand the phenotypic spectrum of Alazami syndrome to include toes syndactyly and adaptive behavior, and confirm the power of “genotype first” approach in patients with syndromic presentations overlapping distinct rare conditions.
Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form
Authors: Shayota Brian J. , Zhang Chaofan , Shypailo Roman J. , Mazzeu Juliana F. , Carvalho Claudia M. B. , Sutton V. Reid 
Published: September 2020

ABSTRACTRobinow syndrome (RS) is a genetically heterogeneous skeletal dysplasia with recent reports suggesting an osteosclerotic form of the disease. We endeavored to investigate the full spectrum of skeletal anomalies in a genetically diverse cohort of RS patients with a focus on the bone micro‐architecture. Seven individuals with molecularly confirmed RS, including four with DVL1 variants and single individuals with variants in WNT5A, ROR2, and GPC4 underwent a musculoskeletal focused physical examination, dual‐energy X‐ray absorptiometry (DEXA) scan, and high‐resolution peripheral quantitative computed tomography (HR‐pQCT). Skeletal examination revealed variability in limb shortening anomalies consistent with recent reports. DEXA scan measures revealed increased total body bone mineral density (BMD) (3/7), cranial BMD (5/7), and non‐cranial BMD (1/7). Cranial osteosclerosis was only observed in DVL1‐RS (4/4) and GPC4‐RS (1/1) subjects and in one case was complicated by choanal atresia, bilateral conductive hearing loss, and cranial nerve III, VI, and VII palsy. HR‐pQCT revealed a unique pattern of low cortical BMD, increased trabecular BMD, decreased number of trabeculations, and increased thickness of the trabeculations for the DVL1‐RS subjects. The spectrum of skeletal anomalies including the micro‐architecture of the bones observed in RS has considerable variability with some osteosclerosis genotype–phenotype correlations more frequent with DVL1 variants.
Regioselective C−H Functionalization of HeteroareneN‐Oxides Enabled by a Traceless Nucleophile
Authors: Mathi Gangadhar Rao , Kweon Byeongseok , Moon Yonghoon , Jeong Yujin , Hong Sungwoo 
Published: September 2020

AbstractAlthough N‐alkenoxyheteroarenium salts have been widely used as umpoled synthons with nucleophilic (hetero)arenes, the use of electron‐poor heteroarenes has remained unexplored. To overcome the inherent electron deficiency of quinolinium salts, a traceless nucleophile‐triggered strategy was designed, wherein the quinolinium segment is converted into a dearomatized intermediate, thereby allowing simultaneous C8‐functionalization of quinolines at room temperature. Experimental and computational studies support the traceless operation of a nucleophile, which enables the previously inaccessible transformation of N‐alkenoxyheteroarenium salts. Remarkably, the generality of this strategy has been further demonstrated by broad applications in the regioselective C−H functionalization of other electron‐deficient heteroarenes such as phenanthridine, isoquinoline, and pyridine N‐oxides, offering a practical tool for the late‐stage functionalization of complex biorelevant molecules.
Stable Cocatalyst‐Free BiVO4 Photoanodes with Passivated Surface States for Photocorrosion Inhibition
Authors: Gao Rui‐Ting , Wang Lei 
Published: September 2020

AbstractImproving charge transport and reducing bulk/surface recombination can increase the activity and stability of BiVO4 for water oxidation. Herein we demonstrate that the photoelectrochemical (PEC) performance of BiVO4 can be significantly improved by potentiostatic photopolarization. The resulting cocatalyst‐free BiVO4 photoanode exhibited a record‐high photocurrent of 4.60 mA cm−2 at 1.23 VRHE with an outstanding onset potential of 0.23 VRHE in borate buffer without a sacrificial agent under AM 1.5G illumination. The most striking characteristic was a strong “self‐healing” property of the photoanode, with photostability observed over 100 h under intermittent testing. The synergistic effects of the generated oxygen vacancies and the passivated surface states at the semiconductor–electrolyte interface as a result of potentiostatic photopolarization reduced the substantial carrier recombination and enhanced the water oxidation kinetics, further inhibiting photocorrosion.
Electrospun nanofibrous alginate sulfate scaffolds promote mesenchymal stem cells differentiation to chondrocytes
Authors: Irani Shiva , Tavakkoli Sajjad , Pezeshki‐Modaress Mohamad , Taghavifar Elham , Mohammadali Marjan , Daemi Hamed 
Published: September 2020

AbstractCartilage tissue engineering is one of the interesting approaches used for repairing cartilage injuries. This study reports the fabrication of polyvinyl alcohol/alginate sulfate (PVA/ALG‐S) nanofibrous mats as a functional support for chondrogenic differentiation of human bone marrow mesenchymal stem cells (hBM‐MSCs). The PVA/ALG‐S nanofibers were obtained through electrospinning of PVA solutions containing 10, 20, and 30 wt% of ALG‐S. The appearance of a band at 833 cm−1 assigned to the symmetrical COS vibration associated to a COSO3 group confirmed the presence of ALG‐S in nanofibrous mat. The SEM images illustrated the bead‐free and smooth morphology of PVA/ALG‐S nanofibers with a mean diameter of 185 ± 0.06 nm. The MTT assay of the hBM‐MSCs seeded on scaffolds indicated the appropriate cytocompatibility of nanofibrous PVA/ALG‐S scaffolds. Furthermore, the appropriate attachment and spreading of the hBM‐MSCs based on SEM images, and their differentiation to the chondrocyte‐like cells accompanied by a decrease in cell growth on MTT analysis and more color absorption in alician blue staining indicated the effective role of alginate sulfate on cell differentiation. Finally, the expression of Type II collagen by RT‐PCR and immunocytochemistry analyses revealed the chondrogenic differentiation of hBM‐MSCs on alginate sulfate nanofibers.
Family History of Eating Disorder and the Broad Autism Phenotype in Autism
Authors: Barrionuevo Bianca A. , Chowdhury Aneesa R. , Lee Joycelyn M. , Dueker Nicole D. , Martin Eden R. , Pericak‐Vance Margaret A. , Cuccaro Michael 
Published: September 2020

AbstractAutism features occur frequently among individuals with eating disorders (ED). This co‐occurrence is not well understood but there is speculation that select traits (e.g., rigidity) are common to both autism and ED. To explore the co‐occurrence of autistic traits and ED features, we used the Simons Simplex Collection (SSC; N = 2,623 families) to test whether first‐degree relatives of individuals with autism with a history of ED features had more autism traits, as measured by the Broad Autism Phenotype Questionnaire (BAP‐Q), compared to relatives with no history of ED. The frequency of individuals with ED features was 2.2% (N = 57) among mothers, <1% in siblings, and not present in fathers. We restricted our analyses to mothers. Compared to mothers with no history of ED, those with a history of ED had significantly higher scores on the BAP‐Q Total Score and each of the three BAP‐Q domains. More importantly, when the BAP‐Q was used as a classification tool, we found that when compared to mothers with no history of ED, those with a history of ED were most likely to fall into the clinically significant range on the BAP‐Q Rigid domain. Our results suggest that a history of ED features among mothers of individuals with autism is associated with the presence of autistic traits. This extends previous work showing a relationship between autism and ED and expands the range of neuropsychiatric traits that have relevance to the BAP among family members of individuals with autism.Lay SummaryUsing information from the Simons Simplex Collection we tested whether mothers of individuals with autism with a history of eating disorder had more autism traits (i.e., similar to those in autism but milder) compared to mothers with no history of eating disorder. The most striking difference between the groups was the presence of rigidity in mothers with a history of eating disorder. This extends previous work showing a relationship between autism and eating disorders and suggests the utility of studying eating disorders in future family studies of autism. Autism Res 2020, 13: 1573–1581. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.
On the production cost of lignocellulose‐degrading enzymes
Authors: Ferreira Rafael G , Azzoni Adriano R , Freitas Sindelia 
Published: September 2020

AbstractLignocellulose is the most abundant renewable material on Earth and the primary component of agricultural wastes such as sugarcane bagasse and wheat straw. It consists of a composite material made of cellulose, hemicellulose, and lignin. Cellulose and hemicellulose can be broken down into monomers by a set of appropriate enzymes, and the resulting monomers may be used to produce a variety of fuels or chemicals through either biological or chemical routes. However, the high production cost of these lignocellulose‐degrading enzymes remains a major challenge for the use of lignocellulosic biomass as raw material. In this context, this article reviews techno‐economic analyses concerning the production of cellulases and other lignocellulose‐degrading enzymes published over the last two decades. The major characteristics of each enzyme production process are described, underscoring the similarities and differences across the various process designs. Moreover, the enzyme production costs derived from these process designs and their composition in terms of raw materials, capital‐related factors, utilities, labor costs, etc., are compared. First, this analysis reveals that most techno‐economic evaluations in the literature address either cellulase production by submerged culture with Trichoderma reesei or enzyme production by solid‐state culture with filamentous fungi. Second, this analysis shows wide cost variations across process designs but it indicates that raw materials and capital‐related costs are generally the main drivers of the enzyme production cost. Furthermore, this assessment corroborates the importance of process parameters, such as product yield, production titer, and volumetric productivity, in the process economics of enzyme production. © 2020 Society of Chemical Industry and John Wiley & Sons, Ltd
Back Cover Image, Volume 14, Issue 5
Authors: Tumuluru Jaya Shankar , Fillerup Eric 
Published: September 2020

The back cover image is based on the Case Report Briquetting characteristics of woody and herbaceous biomass blends: Impact on physical properties, chemical composition, and calorific value by Jaya Shankar Tumuluru et al., https://doi.org/10.1002/bbb.2121.
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Prognostic value of automated bone scan index for predicting overall survival among bone metastatic castration resistant prostate cancer patients treated with radium‐223
Authors: Miyoshi Yasuhide , Tsutsumi Sohgo , Kawahara Takashi , Yasui Masato , Uemura Koichi , Yoneyama Shuko , Yokomizo Yumiko , Hayashi Narihiko , Yao Masahiro , Uemura Hiroji 
Published: September 2020

AbstractIntroductionThe objective of this study was to evaluate automated bone scan index (aBSI) as a prognostic biomarker for overall survival (OS) in bone‐metastatic, castration‐resistant prostate cancer (mCRPC) patients treated with radium‐223 (Ra‐223).Materials and methodsWe identified 42 men treated with Ra‐223 for mCRPC. We investigated aBSI as an independent prognostic factor by multivariate analysis. Moreover, we evaluated the prognostic value of the aBSI after 12 weeks after the first cycle of Ra‐223 administration and aBSI change from baseline to after 12 weeks (ΔBSI).ResultsMedian baseline PSA and aBSI were 42.8 ng/mL and 1.5%, respectively. Median OS was 20.7 months. Multivariate analysis showed that baseline aBSI was a significant prognostic factor for OS. The aBSI at 12 weeks after first Ra‐223 administration also exhibited significant prognostic value for OS, while we found no evidence of prognostic value for ΔBSI.ConclusionsBaseline aBSI may be a significant prognostic factor for OS in bone‐metastatic CRPC patients treated with Ra‐223.
Tracking medical student emotionality in relation to whole body dissection and donation
Authors: Greene Sarah J. , Rosen Lee 
Published: September 2020

AbstractIntroductionFor students studying anatomy, dissection of the human body can elicit a wide range of intellectual and emotional responses that are subject to change over the duration of a course. The purpose of this study was to determine how overall emotional responses change over time, if there are differences in responses by gender and previous laboratory exposure, and if these responses impact course performance.MethodsFirst‐year medical students enrolled in the Human Structure and Function course at the University of Vermont, and in the Organ Systems 1, 2, and 3 courses at Morehouse School of Medicine were given a series of four surveys across the first‐year curriculum. Data were gathered regarding age, gender, and previous laboratory exposure. Students were asked to rate their level of 15 positive and negative emotions, and their desire to avoid or approach the laboratory and donors. These responses were translated to three measures: (a) a positive response index (PRI), (b) a negative response index (NRI), and (c) an avoid‐approach index (AAI). Responses were followed longitudinally and matched with anatomy practical examination grades.ResultsGender and previous laboratory exposure status were both significantly related to emotional responses at different points throughout the year, and unique patterns of responses across the year emerged within each group. Higher PRI and AAI were positively correlated with some practical examination scores.ConclusionsData suggest that gender and previous laboratory exposure status influence emotional responses to dissection, and that these responses may have an effect on course performance.
Local ablation vs partial nephrectomy in T1N0M0 renal cell carcinoma: An inverse probability of treatment weighting analysis
Authors: Shi Lei , He Yan , Liu Chang , Qian Xiaoyuan , Wang Zhixian 
Published: September 2020

AbstractObjectiveTo compare the survival outcomes of local ablation (LA) and partial nephrectomy (PN) for T1N0M0 renal cell carcinoma (RCC).MethodWe identified 38,155 T1N0M0 RCC patients treated with PN or LA in 2004‐2016 from the retrospective Surveillance, Epidemiology, and End Results databases. Among them, there were 4656 LA and 33,499 PN. A Cox proportional hazards regression model, cause‐specific Cox regression and Fine and Gray sub‐distribution hazard ratio (sHR) with inverse probability of treatment weighting (IPTW) adjusting was utilized to compare the effects of LA vs PN on all‐, RCC‐, and non‐RCC–caused mortality.ResultsWithin the IPTW analysis, patients who underwent PN experienced a better overall survival (OS) (HR, 1.56; 95% CI, 1.40‐1.74; P < .001) and cancer‐specific survival (CSS) (HR, 2.21; 95% CI, 1.62‐2.98; P < .001) than LA patients. In the subgroup of patients >85 years (HR, 1.14; 95% CI, 0.73‐1.79, P = .577), chromophobe RCC (HR, 1.68; 95% CI, 0.94‐3.00, P = .078), and tumor size <2 cm (HR, 1.21; 95% CI, 0.95‐1.53, P = .126), the OS showed no significant difference between LA and PN. No significant difference in CSS between LA and PN was observed in the subgroup of chromophobe RCC (HR, 0.34; 95% CI, 0.03‐3.97, P = .389), and tumor size <2 cm (HR, 1.83; 95% CI, 0.92‐3.64, P = .084). For patients >85 years (sHR, 0.89; 95% CI, 0.52‐1.27, P = .520) and tumor size <2 cm (sHR, 1.14; 95% CI, 0.94‐1.38, P = .200), the non‐RCC–specific mortality was not significantly different in PN and LA cohorts, however, for the chromophobe RCC, the LA showed a worse non‐RCC mortality than PN (HR, 1.72; 95% CI, 1.06‐2.79, P = .028).ConclusionPN showed a better prognosis than LA in T1N0M0 RCC treatment, but LA and PN showed a comparable OS in elderly patients (>85), small RCC (<2 cm) and chromophobe RCC.
The effect of the “segment” of spinal cord injury on the activity of the nucleotide‐binding domain‐like receptor protein 3 inflammasome and response to hormonal therapy
Authors: Majidpoor Jamal , Mortezaee Keywan , Khezri Zahra , Fathi Fardin , Zali Alireza , Derakhshan Homayoon Bana , Bariki Mehdi Ghasemzadeh , Joghataie Mohammad Taghi , Shirazi Reza , Moradi Fatemeh 
Published: September 2020

Spinal cord injury (SCI) is a common devastating condition that causes neuronal loss and dysfunction. Neuroinflammation takes cardinal roles in the pathogenesis of SCI, and nucleotide‐binding domain‐like receptor protein 3 (NLRP3) inflammasome is a mediator of inflammatory reactions occurring in SCI patients. The present study was designed to survey possible relation between thoracic segments whereby injury occurs with the activity of NLRP3 inflammasome complex, and to find the influence of hormonal therapy on the outcomes. Adult male Wistar rats underwent contusion SCI model at three different thoracic segments T1, T6 and T12, then receiving subcutaneous injection of either 10 mg/kg melatonin or 25 μg/kg 17‐β estradiol (E2) every 12 hours until 72 hours post‐SCI. Inflammasome activity was assessed before and at the end of hormonal therapy. SCI rats showed decreased locomotor activity and myelination, and increased activity of the NLRP3, apoptosis‐associated speck‐like protein (ASC) and caspase‐1 at gene and protein levels. Release of interleukins (ILs) 18 and 1β was also augmented after SCI (P < 0.0.5). Hormonal therapy was most effective for targeting mRNA activity at T6 segment. Treatment with either melatonin or E2 caused a decrease in the protein activity of NLRP3 inflammasome at all segments (P < 0.0.5), except for T6 that NLRP3 protein had no response to melatonin. IL‐1β showed decreased activity in response to hormonal therapy at all segments, whilst IL‐18 protein had no change at T1 segment. It is understood that although no alteration in the activity of NLRP3 was found for SCI at different segments, the response to hormonal therapy was influenced by segment.Significance of the studyFrom our results, the NLRP3 inflammasome activity is not influenced by segment, but there are differences in the effect of hormonal therapy on inflammasome activity at different segments in response to melatonin or E2. These findings also provide the beneficial effects of melatonin or E2 on inflammation caused by spinal cord injury in different thoracic segments. Finally, these data can have therapeutic importance for hormone therapy of spinal cord injury.
Electro‐capillary filling in a microchannel under the influence of magnetic and electric fields
Authors: Gorthi Srinivas R. , Mondal Pranab K. , Biswas Gautam , Sahu Kirti C. 
Published: September 2020

AbstractWe numerically investigate the dynamics of two immiscible conductive fluids in a narrow fluidic channel under the combined influence of electric and magnetic fields using a diffuse interface based phase‐field model. The numerical solver is validated from two different perspectives, viz., with the reported results of microscale multiphase transport as well as the available experimental results in the paradigm of electrically actuated transport. The magnetic field induces the Lorentz force due to its interaction with the electrical forcing, which in turn leads to complex interfacial dynamics and development of a finger‐like interface front of the advancing fluid into the receding fluid. Under certain conditions studied in the present work, the trend reverses, and a finger of receding fluid is formed into the advancing fluid. The effect of contrast in fluid properties is studied and the interface breaking phenomenon is observed beyond a threshold viscosity contrast. It is found that for a given viscosity contrast between the fluids, an increase in the strength of the applied magnetic field prevents wetting failure.
DLIFT: A deep‐learning‐based intelligent fund transaction system for financial Internet of Things
Authors: Hu Gang , Xiang Zhuoyuan , Zhang Yin , Shamim Hossain M. 
Published: September 2020

SummaryAnalyzing the correlation between two funds can help investors control investment risks and optimize investment portfolios, which has a strong guiding significance for fund investment in reality. Constructing an intelligent investment system with fund correlation analysis capabilities can help investors automatically make profits from financial markets. In previous research, many researchers have built intelligent investment systems using Bayesian networks, support vector machines (SVM), and LSTM models. However, the strong historical dependence between fund data and the high‐dimensional and high‐noise characteristics of fund data prevent traditional methods from obtaining excellent performance in fund analysis. This paper designs a deep learning‐based fund intelligent trading system‐DLIFT which has functions such as investment push, income prediction, and risk control. The systems data analysis module is implemented using the Improved RNN model. This model employed encoder‐decoder architecture. The encoder is responsible for analyzing the fund's feature, and the decoder is responsible for analyzing the dependency relationship between the historical correlation and the current correlation. LSTM and an attention mechanism are simultaneously applied to the encoder and decoder, which enabled the discovery of the implicit dependence of time series data. This article places the designed system on a historical dataset containing multiple public funds for verification. In specific experiments, the experimental results of the comparative experiments show the superiority of our model. At the same time, the results of the ablation experiment results show that LSTM and attention mechanism play critical role in the proposed system.
A decision system for computational authors profiling: From machine learning to deep learning
Authors: Mechti Seifeddine , Krichen Moez , Ben Noureddine Dhouha , Belguith Lamia H. 
Published: September 2020

SummaryIn this study, we tackle the problem of author profiling. The aim of the proposed approach is to determine the author's age and gender. Once the user connects to the company website, this company collects the available data about him (which is usually very limited). Then, the user receives a service recommendation according to his gender and age. Thus, a context‐specific decision‐making system based on these limited data is required to produce an efficient classification. Such a decision system allows companies to promote their marketing. To obtain the best categorization, machine learning (ML) and deep learning (DL) techniques have been applied in the literature. In this article, we apply both classical ML techniques and recently developed DL techniques. More precisely, we adopt the gated recurrent unit model. Our experiments show that our findings are positively comparable with the best state‐of‐the‐art methods.