bluuebunny/crossref_metadata_2025_split huggingface dataset:
Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video
Authors: Tai Geneieve , Corben Louise A. , Woodcock Ian R. , Yiu Eppie M. , Delatycki Martin B. 
Published: April 2021

ABSTRACTBackgroundThe Friedreich Ataxia Rating Scale (FARS) and the Scale for the Assessment and Rating of Ataxia (SARA) are commonly used neurological rating scales in Friedreich ataxia (FRDA). The modified Friedreich Ataxia Rating Scale (mFARS) has been accepted as an appropriate outcome measure for clinical trials in FRDA.ObjectivesThe COVID‐19 pandemic has resulted in limited face‐to‐face interactions with individuals involved in natural history studies and clinical trials. The aim of this study was to determine the validity of conducting the mFARS and SARA through video.MethodsIndividuals who had the mFARS administered face‐to‐face in the previous 6 months were invited to participate. Participants were sent instructions and asked to have a carer present to assist. The mFARS and SARA were then administered by video. Differences between face‐to‐face and video scores and the reliability between scores obtained face‐to‐face and by video were examined.ResultsThe mFARS and SARA were conducted by video with 19 individuals. Excellent test–retest reliability was seen in the mFARS lower limb coordination (ICC = 0.96, 95% CI 0.90–0.98) and upright stability sections (ICC = 0.97, 95% CI 0.93–0.99), total mFARS (ICC = 0.97, 95% CI 0.92–0.99) and SARA scores (ICC = 0.98, 95% CI 0.95–0.99).ConclusionsExcellent test–retest reliability was demonstrated in the majority of the mFARS sections, and in the total mFARS and SARA scores, suggesting that video is a valid method of conducting these scales. This method enables inclusion of participants who are unable to travel to study sites. A larger cohort will be required to further validate the use of video mFARS and SARA for future studies.
Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3‐Related Dystonia
Authors: Carvalho Vanessa , Martins Joana , Correia Filipe , Costa Manuela , Massano João , Temudo Teresa 
Published: April 2021

ABSTRACTBackgroundMutations in the anoctamin 3 (ANO3) gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid‐life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24.CasesThe index case presented with myoclonic dystonia at age 10. His family history was remarkable for cervical dystonia with myoclonus in his grandfather, cervical and upper limb dystonia along with dopa‐responsive parkinsonism in his father and lower‐limb dystonia in his teenage sister. Magnetic resonance imaging and blood work‐ups of all the affected family members were normal. The genetic panel for inherited forms of dystonia disclosed a point mutation c.1787C > A (p.Ser596Tyr) segregated in all affected family members.ConclusionsANO3 mutations usually present with craniocervical dystonia and rarely generalized or leg dystonia. This family exemplifies the heterogeneous presentation of this disorder as well as a wide phenotypic variability within the same family.
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl
Authors: Sun Hao , Cao Zhijian , Gao Ruixi , Li Yulei , Chen Rui , Du Shiyue , Ma Tingbin , Wang Junhan , Xu Xuan , Liu Jing Yu 
Published: April 2021

AbstractBackgroundPrimary familial brain calcification (PFBC) is a rare inheritable neurodegenerative disease characterized by bilateral calcification in different brain regions and by a range of neuropsychiatric symptoms. Six causative genes of PFBC (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified.MethodsSanger sequencing was used to identify the causative genes associated with PFBC in this study.ResultsWe describe the first PFBC case with both SLC20A2 and PDGFRB heterozygous mutations. Notably, this patient with the digenic mutation (who was only 5 years old) showed severe brain calcification and migraine, whereas the patient's parents, who each carried a heterozygous mutation in SLC20A2 or PDGFRB, exhibited varying degrees of brain calcification but were clinically asymptomatic.ConclusionThis case highlights the digenic influences on the characteristics of PFBC patients.
Wettbewerb: Wer am besten stoppt
Authors: Tratter Anna 
Published: April 2021

AbstractChemcar – der Wettbewerb des Vereins Deutscher Ingenieure – fordert Studierende dazu auf, ein mit (bio)chemischen Reaktionen betriebenes Minifahrzeug zu entwickeln. Dieses selbstgebaute Gefährt muss eine kurz vor dem Start ausgeloste Distanz möglichst genau zurücklegen.
Angebote zu Stellensuche und Berufsorientierung
Authors: Schmitz Karin J. 
Published: April 2021

AbstractDer Übergang von Studium, Ausbildung oder Promotion in den ersten „richtigen“ Job ist ebenso wie ein späterer Stellenwechsel eine wichtige Phase im Berufsleben. Die GDCh unterstützt Mitglieder und Nichtmitglieder mit einer Reihe von Angeboten für diejenigen, die sich beruflich orientieren wollen oder müssen.
On fair designs of cross‐chain exchange for cryptocurrencies via Monte Carlo simulation
Authors: Wang Zini , Jiang Guangxin , Ye Qiang 
Published: April 2021

AbstractCryptocurrency is one of the earliest and the most successful applications of blockchain, and it utilizes the distributed ledger, which is a commonly used technique in blockchain, to make a decentralized transaction within the blockchain of a cryptocurrency. However, how to make a decentralized transaction of cryptocurrencies between parties on different blockchains, that is, the cross‐chain exchange, is not well‐studied. In this paper, we develop a new method to make cross‐chain exchanges based on the classical atomic swap. We first study the optionality embedded into the atomic swap and propose to add a premium into the atomic swap, and then design a new procedure with the premium to guarantee the fairness of the cross‐chain exchange. We also provide an algorithm based on the least‐squares Monte Carlo method to estimate the premium and analyze the convergence of the algorithm. Moreover, we study the cross‐chain exchange with margin trading. We propose an adapted exchange procedure to make a fair cross‐chain exchange and an algorithm to estimate the fair premium under the margin trading. Numerical experiments are provided to show the effectiveness of the algorithms.
Shape optimization for the strong directional scattering of dielectric nanorods
Authors: Araújo Juan C. , Wadbro Eddie 
Published: April 2021

AbstractIn this project, we consider the shape optimization of a dielectric scatterer aiming at efficient directional routing of light. In the studied setting, light interacts with a penetrable scatterer with dimension comparable to the wavelength of an incoming planar wave. The design objective is to maximize the scattering efficiency inside a target angle window. For this, a Helmholtz problem with a piecewise constant refractive index medium models the wave propagation, and an accurate Dirichlet‐to‐Neumann map models an exterior domain. The strategy consists of using a high‐order finite element (FE) discretization combined with gradient‐based numerical optimization. The latter consists of a quasi‐Newton (BFGS) with backtracking line search. A discrete adjoint method is used to compute the sensitivities with respect to the design variables. Particularly, for the FE representation of the curved shape, we use a bilinear transfinite interpolation formula, which admits explicit differentiation with respect to the design variables. We exploit this fact and show in detail how sensitivities are obtained in the discrete setting. We test our strategy for a variety of target angles, different wave frequencies, and refractive indexes. In all cases, we efficiently reach designs featuring high scattering efficiencies that satisfy the required criteria.
The impact of organo‐montmorillonite on rheology and crystalline structure of uncured and cured acrylonitrile‐butadiene rubber/poly(ethylene‐co‐vinyl acetate) nanocomposites
Authors: Razavi‐Nouri Mohammad , Sabet Alireza , Mohebbi Maryam 
Published: April 2021

AbstractThe aim of this study was to evaluate the influence of organo‐montmorillonite (OMMT) content on rheology, crystalline structure, and also hardness and tensile properties of uncured and lightly cured acrylonitrile‐butadiene rubber (NBR)/poly(ethylene‐co‐vinyl acetate) (EVA)/OMMT nanocomposites. The nanocomposites containing 0 to 7 wt% OMMT was prepared and then cured with 0.3 wt% dicumyl peroxide. The low‐angle X‐ray diffraction results revealed that curing clearly improved the degree of exfoliation in the materials having high OMMT content. It was found from the hardness and tensile tests that the values of hardness, tensile strength, modulus, and energy at break were higher for the cured nanocomposites than those of the uncured materials in the range of OMMT examined. The results obtained from the Casson plot revealed that the nanofiller played a more effective role in increasing the yield stress of the uncured materials than that of the cured counterparts at a constant OMMT content. The characteristic relaxation time was also progressively increased with OMMT content for the uncured materials; however, the value was higher for the cured materials and it was much less sensitive to the nanofiller content. The I110/I200 peak intensity ratio of EVA calculated from the wide‐angle X‐ray diffraction patterns decreased with increasing in OMMT content for the uncured and cured materials; however, the value was always higher for the cured counterparts.
Fetoscopic urethral meatotomy in fetuses with lower urinary tract obstruction by congenital megalourethra
Authors: Cruz‐Martínez Rogelio , Martínez‐Rodríguez Miguel , Gámez‐Varela Alma , Luna‐García Jonahtan , López‐Briones Hugo , Chávez‐González Erendira , Villalobos‐Gómez Rosa , Juárez‐Martínez Israel 
Published: April 2021

AbstractBackgroundTo describe the perinatal outcomes of fetoscopic urethral meatotomy (FUM) in fetuses with lower urinary tract obstruction (LUTO) by congenital megalourethra.Study designBetween 2012 and 2020, 226 cases with LUTO were referred to our fetal surgery center in Queretaro, Mexico. We report the perinatal outcome of cases with LUTO by congenital megalourethra that were selected for FUM in an attempt to release the penile urethral obstruction.ResultsCongenital megalourethra was diagnosed in 10 cases (4.4%) but only 3 cases (30%) with obstructive megalourethra and megacystis were selected for fetal surgery. Fetoscopic urethral metatotomy was successfully performed in all three cases at a median gestational age (GA) of 21.4 (18.0–26.7) weeks and with a median surgical time of 27 (12–43) min. A resolution of urethral dilatation and subsequent reduction of the penile length and normalization of both the bladder size and amniotic fluid were observed in all cases. The median GA at delivery was 35.2 (range: 30.6–38.0) weeks. There were no fetal deaths but one neonatal death (33%) secondary to renal failure and preterm delivery.ConclusionIn fetuses with LUTO by congenital obstructive megalourethra, FUM is feasible and is associated with good perinatal outcomes.
Hodgkin's lymphoma‐associated vanishing bile duct syndrome successfully treated with radiation as a bridge to chemotherapy
Authors: Ebadi Maryam , Olson Jeffrey , Bateman Justin , Mathew Damien , Yuan Jianling , Rashidi Armin 
Published: April 2021

AbstractVanishing bile duct syndrome is a paraneoplastic manifestation of Hodgkin's lymphoma that often proves fatal. Treatment of the underlying lymphoma with chemotherapy is a priority, and liver dysfunction is frequently prohibitive. A 27‐year‐old woman presented with severe cholestatic hepatitis that was diagnosed as vanishing bile duct syndrome on liver biopsy. Chest imaging showed mediastinal and supraclavicular lymphadenopathy that was diagnosed as Hodgkin's lymphoma. She was administered involved‐site radiation (3960 cGy), yielding partial lymphoma remission and marked improvement in liver function. Subsequently, standard chemotherapy achieved complete remission. A total of 19 months thereafter, the patient was in complete remission with normal liver function. We conclude that tumor‐directed radiotherapy can be used as a bridge to curative chemotherapy in Hodgkin's lymphoma‐associated vanishing bile duct syndrome.
Vanishing bile duct syndrome (VBDS) is a rare and fatal paraneoplastic presentation of Hodgkin lymphoma (HL)
In a patient with HL above the diaphragm and paraneoplastic VBDS, involved‐site radiation to the tumor resulted in cytoreduction and improved liver function
Curative‐intent chemotherapy was subsequently initiated and led to a complete remission of HL and resolution of liver injury
In HL‐associated paraneoplastic VBDS, RT to the tumor can be used as a bridge to curative chemotherapy
Network of Entamoeba histolytica HSP18.5 dimers formed by two overlapping [IV]‐X‐[IV] motifs
Authors: Kurre Devanshu , Suguna Kaza 
Published: April 2021

AbstractSmall heat shock proteins (sHSPs) are ATP‐independent molecular chaperones with low molecular weight that prevent the aggregation of proteins during stress conditions and maintain protein homeostasis in the cell. sHSPs exist in dynamic equilibrium as a mixture of oligomers of various sizes with a constant exchange of subunits between them. Many sHSPs form cage‐like assemblies that may dissociate into smaller oligomers during stress conditions. We carried out the functional and structural characterization of a small heat shock protein, HSP18.5, from Entamoeba histolytica (EhHSP18.5). It showed a pH‐dependent change in its oligomeric state, which varied from a tetramer to larger than 48‐mer. EhHSP18.5 protected Nde I and lysozyme substrates from temperature and chemical stresses, respectively. The crystal structure of EhHSP18.5 was determined at a resolution of 3.28 Å in C2221 cell with four subunits in the asymmetric unit forming two non‐metazoan sHSP‐type dimers. Unlike the reported cage‐like structures, EhHSP18.5 formed a network of linear chains of molecules in the crystal. Instead of a single [IV]‐X‐[IV] motif, EhHSP18.5 has two overlapping I/V‐X‐I/V sequences at the C‐terminus giving rise to novel interactions between the dimers. Negative staining Electron Microscopy images of EhHSP18.5 showed the presence of multiple oligomers: closed structures of various sizes and long tube‐like structures.
Conditional distribution modeling as an alternative method for covariates simulation: Comparison with joint multivariate normal and bootstrap techniques
Authors: Smania Giovanni , Jonsson E. Niclas 
Published: April 2021

AbstractClinical trial simulation (CTS) is a valuable tool in drug development. To obtain realistic scenarios, the subjects included in the CTS must be representative of the target population. Common ways of generating virtual subjects are based upon bootstrap (BS) procedures or multivariate normal distributions (MVNDs). Here, we investigated the performance of an alternative method based on conditional distributions (CDs). Covariate data from a hypertension drug development program were used. The methods were evaluated based on the original data set (internal evaluation) and on their ability to reproduce an older, unobserved population (extrapolation). Similar results were obtained in the internal evaluation for summary statistics, yet BS was able to preserve the correlation structure of the empirical distribution, which was not adequately reproduced by MVND; CD was in between BS and MVND. BS does not allow to extrapolate to an unobserved population. When the data set used to inform the extrapolation was well approximated by an MVND, the results from CD and MVND were comparable. However, improved extrapolation performance was observed for CD when deviations from normality assumptions occurred. If CTS is used to simulate within the observed distribution, BS is the preferred method. When extrapolating to new populations, a parametric method like CD/MVND is needed. In case the empirical multivariate distribution is characterized by linearly related covariates and unimodal marginal distributions, MVND can be used because of the simpler statistical framework and well‐established use; however, if uncertainty about the MVND assumptions exists, CD will increase the confidence in the simulations compared to MVND.
Pharm‐AutoML: An open‐source, end‐to‐end automated machine learning package for clinical outcome prediction
Authors: Liu Gengbo , Lu Dan , Lu James 
Published: April 2021

AbstractAlthough there is increased interest in utilizing machine learning (ML) to support drug development, technical hurdles associated with complex algorithms have limited widespread adoption. In response, we have developed Pharm‐AutoML, an open‐source Python package that enables users to automate the construction of ML models and predict clinical outcomes, especially in the context of pharmacological interventions. In particular, our approach streamlines tedious steps within the ML workflow, including data preprocessing, model tuning, model selection, results analysis, and model interpretation. Moreover, our open‐source package helps to identify the most predictive ML pipeline among defined search spaces by selecting the best data preprocessing strategy and tuning the ML model hyperparameters. The package currently supports multiclass classification tasks, and additional functions are being developed. Using a set of five publicly available biomedical datasets, we show that our Pharm‐AutoML outperforms other ML frameworks, including H2O with default settings, by demonstrating improved predictive accuracy of classification. We further illustrate how model interpretation methods can be utilized to help explain the fine‐tuned ML pipeline to end users. Pharm‐AutoML provides both novice and expert users improved clinical predictions and scientific insights.
Global prevalence and genotype distribution of norovirus infection in children with gastroenteritis: A meta‐analysis on 6 years of research from 2015 to 2020
Authors: Farahmand Mohammad , Moghoofei Mohsen , Dorost Abolfazl , Shoja Zabihollah , Ghorbani Saied , Kiani Seyed Jalal , Khales Pegah , Esteghamati Abdoulreza , Sayyahfar Shirin , Jafarzadeh Mehrzad , Minaeian Sara , Khanaliha Khadijeh , Naghdalipour Mehri , Tavakoli Ahmad 
Published: April 2021

SummaryIn the post rotavirus vaccine era, norovirus (NoV) plays an increasingly important role in epidemic and sporadic gastroenteritis among children. This study was designed to provide an updated meta‐analytic review of the prevalence of NoV among paediatric patients with gastroenteritis and to clarify the relationship between NoV infection and gastroenteritis. Systematic searches of the literature for potentially relevant studies were carried out from 1 January 2015 to 29 May 2020. The inverse variance method was chosen for weighting of the studies, and the random‐effects model was used to analyse data. To determine the association between NoV infection and gastroenteritis in children, pooled odds ratio (OR) and its 95% confidence interval (CI) were computed for case–control studies. The pooled prevalence of NoV infection among 12,0531 children with gastroenteritis from 45 countries across the world was 17.7% (95% CI: 16.3%–19.2%). There were 28 studies with a case–control design, and the pooled prevalence of NoV infection among 11,954 control subjects was 6.7% (95% CI: 5.1%–8.8%). The pooled OR of the association of NoV infection and gastroenteritis was 2.7 (95% CI: 2.2–3.4). The most common NoV genotypes were GII.4 (59.3%) and GII.3 (14.9%). The highest frequency of NoV was found in the age group below 1 year. Our findings indicated a substantial burden of gastroenteritis caused by NoV globally, with GII.4 and GII.3 the major genotypes responsible for the majority of NoV‐associated gastroenteritis cases among children. Younger age and male sex can be considered risk factors for NoV‐associated gastroenteritis among children.
Examining Teacher Preparation for Code‐Related Reading Instruction: An Integrated Literature Review
Authors: Tortorelli Laura S. , Lupo Sarah M. , Wheatley Barbara C. 
Published: April 2021

ABSTRACTAdvocates of the science of reading have argued that (a) teacher preparation programs do not provide adequate preparation to teach code‐related reading skills; (b) as a result, teachers lack knowledge of this area of literacy development; and (c) without that knowledge, teachers are unable to effectively teach students to read. In this integrative literature review, we assessed the research evidence for the first claim. We identified 27 studies examining preservice general elementary preparation in code‐related instruction, including phonological/phonemic awareness, phonics/decoding, spelling/orthography, and morphology, published between 2001 and 2020. We analyzed the studies to determine (a) how preservice knowledge of code‐related instruction has been studied, (b) how preservice teachers’ literacy knowledge was defined and assessed in these studies, and (c) primary findings across studies and implications for teacher preparation and future research. We found that the research base largely relied on quantitative multiple‐choice assessments that privileged linguistic content knowledge over pedagogical and situated knowledge. The body of research was constrained by narrow definitions of science and knowledge, repetition across studies in methods and data sources, limited samples that overlooked diversity in preservice teachers and elementary contexts, and methodological problems. Thus, we caution against considering the issue of teacher preparation settled, and we offer recommendations for teacher preparation programs and directions for future research.
Fabrication and Evaluation of Flexible Micro‐Supercapacitor from MWCNTs‐Ag Nanohybrid‐Sulfonated PANI Nanocomposite Embedded PVA‐TEOS Membrane
Authors: Naik Satishkumar R. , Torvi Anand I. , Munavalli Balappa B. , Achari Divya D. , Kariduraganavar Mahadevappa Y. 
Published: April 2021

AbstractThe flexible nanocomposite membranes were developed by incorporating the multiwalled carbon nanotubes‐silver nanoparticle‐sulfonated polyaniline (MWCNTs−Ag‐SPANI) nanocomposite in TEOS crosslinked PVA matrix. The physicochemical properties of the resulting ternary nanocomposite membranes were investigated systematically by different techniques. The electrochemical performance of all the nanocomposites was evaluated by cyclic voltammetry, galvanostatic charge‐discharge and electrochemical impedance spectroscopy. The nanocomposite containing 1 : 1 weight ratios exhibited a maximum specific capacitance of 572.8 F g−1 with energy density of 79.5 Wh kg−1 and power density of 9.9 kW kg−1. A remarkable electrochemical performance of ternary nanocomposite was associated due to the synergistic effect of MWCNTs, SPANI and Ag nanoparticles. Around 83.5 % capacitance retention was found even after 2500 cycles, revealing that nanocomposite exhibited an excellent stability. Considering these superior performances, a micro‐supercapacitor device was fabricated from the developed nanocomposite membrane and evaluated its electrochemical performance. The fabricated micro‐supercapacitor device showed specific capacitance of 60.95 F g−1, energy density of 7.46 Wh kg−1 and power density of 67.81 W kg−1 at a current density of 5.0 mA g−1. Furthermore, the fabrication method adopted here could be easily applied to large‐scale fabrication of flexible light‐weight micro‐supercapacitor devices.