bluuebunny/crossref_metadata_2025_split huggingface dataset:
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Authors: Van de Vondel Liedewei , De Winter Jonathan , Beijer Danique , Coarelli Giulia , Wayand Melanie , Palvadeau Robin , Pauly Martje G. , Klein Katrin , Rautenberg Maren , Guillot‐Noël Léna , Deconinck Tine , Vural Atay , Ertan Sibel , Dogu Okan , Uysal Hilmi , Brankovic Vesna , Herzog Rebecca , Brice Alexis , Durr Alexandra , Klebe Stephan , Stock Friedrich , Bischoff Almut Turid , Rattay Tim W. , Sobrido María‐Jesús , De Michele Giovanna , De Jonghe Peter , Klopstock Thomas , Lohmann Katja , Zanni Ginevra , Santorelli Filippo M. , Timmerman Vincent , Haack Tobias B. , Züchner Stephan ,   PREPARE Consortium, Schüle Rebecca , Stevanin Giovanni , Synofzik Matthis , Basak A. Nazli , Baets Jonathan 
Published: February 2022

ABSTRACTBackgroundPathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy.ObjectivesWe investigated the role of SPTAN1 variants in rare neurological disorders such as ataxia and spastic paraplegia.MethodsWe screened 10,000 NGS datasets across two international consortia and one local database, indicative of the level of international collaboration currently required to identify genes causative for rare disease. We performed in silico modeling of the identified SPTAN1 variants.ResultsWe describe 22 patients from 14 families with five novel SPTAN1 variants. Of six patients with cerebellar ataxia, four carry a de novo SPTAN1 variant and two show a sporadic inheritance. In this group, one variant (p.Lys2083del) is recurrent in four patients. Two patients have novel de novo missense mutations (p.Arg1098Cys, p.Arg1624Cys) associated with cerebellar ataxia, in one patient accompanied by intellectual disability and epilepsy. We furthermore report a recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia from seven families with a dominant inheritance pattern in four and a de novo origin in one case. One further patient carrying a de novo missense mutation (p.Gln2205Pro) has a complex spastic ataxic phenotype. Through protein modeling we show that mutated amino acids are located at crucial interlinking positions, interconnecting the three‐helix bundle of a spectrin repeat.ConclusionsWe show that SPTAN1 is a relevant candidate gene for ataxia and spastic paraplegia. We suggest that for the mutations identified in this study, disruption of the interlinking of spectrin helices could be a key feature of the pathomechanism. © 2022 International Parkinson and Movement Disorder Society
Buyback and price postponement in a decentralized supply chain with additive and price‐dependent demand
Authors: Zhang Kairen , Shang Weixin , Zhou Weihua 
Published: February 2022

AbstractWe examine buyback contracts in a dyadic supply chain where a retailer orders from a supplier before observing the random demand and sets a retail price after observing it (a.k.a. price postponement). We focus on the case with linear additive demand, which is well known to be less tractable than the case with linear multiplicative demand. With mild conditions on the distribution of demand uncertainty, we derive the supplier's optimal buyback contract and show the following results. The supplier strictly prefers buyback contracts to wholesale price‐only contracts if and only if the unit production cost is lower than a threshold that depends on the dispersion of demand uncertainty; the optimal buyback rate is decreasing in the unit production cost; the profit allocation within the supply chain and channel efficiency depend on the dispersion of demand uncertainty. These results are in stark contrast to those in the case with linear multiplicative demand. Nevertheless, the relation between the operational decisions under the optimal buyback contract and those under the optimal wholesale price‐only contract is consistent with the case of multiplicative demand. We further extend the analysis to two related scenarios. On one hand, our results continue to hold in a supply chain where one supplier sells to two competing retailers. On the other hand, when the retailer does not postpone retail pricing decisions, we establish three distinctive properties of the optimal buyback contract: the supplier strictly prefers buyback contracts to wholesale price‐only contracts if and only if the unit production cost is intermediate; the optimal buyback rate is increasing in the unit production cost in the region where the supplier strictly prefers buyback contracts to wholesale price‐only contracts; price postponement benefits both the retailer and the supply chain but does not always benefit the supplier. The above analysis shows that the supplier's preference between buyback and wholesale price‐only contracts can swing either way when the retailer starts to practice price postponement.
A level‐set‐based shape optimization method for thermoelectric materials
Authors: Furuta Kozo , Sato Ayami , Izui Kazuhiro , Nishiwaki Shinji 
Published: February 2022

AbstractA thermoelectric device is a useful device which directly converts thermal energy to electric energy and vice versa. Although this device has such energy conversion functions, the demands in the industries are limited because of the relatively low conversion performance. In order to enhance this performance, the thermal conductivity of thermoelectric material should be low. According to dramatic improvements of nano‐processing accuracy in recent decades, many thermoelectric materials have been developed with low thermal conductivities by utilizing a unique phenomenon of a nanoscale heat conduction which is called “temperature jump.” However, few structural optimization methods have been proposed for nanoscale thermoelectric materials since a conventional analysis method cannot be applied to a heat conduction problem in a nanostructure. On behalf of the Poisson's equation, we need to introduce a Boltzmann transport equation for describing a nanoscale heat conduction problem with a discontinuity effect on a material interface. The level set method has a potential for dealing with such a boundary condition in structural optimization. That is, material interfaces can be expressed by the iso‐surface of the level set function, and the boundary effects are imposed in the boundaries during the optimization procedures. In this paper, we propose a level‐set‐based shape optimization method for thermoelectric materials. First, an analysis method for a nanoscale heat conduction problem based on the Boltzmann transport equation is introduced. An objective functional is defined for obtaining a low thermal conductivity material. Then, based on an adjoint method, we derive the shape sensitivity, which enables us to consider the effects of the temperature jumps on the material interfaces. Next, a level‐set‐based shape optimization is applied to our optimization problem. Finally, as a validation of our proposed method, several numerical examples are computed.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
Authors: Coste Thibault , Vincent‐Delorme Catherine , Stichelbout Morgane , Devisme Louise , Gelot Antoinette , Deryabin Igor , Pelluard Fanny , Aloui Chaker , Leutenegger Anne‐Louise , Jouannic Jean‐Marie , Héron Delphine , Gould Douglas B , Tournier‐Lasserve Elisabeth 
Published: February 2022

AbstractBackgroundVariants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major acquired ICH factor but the prevalence and characteristics of inherited platelet disorder (IPD) gene variants leading to thrombocytopenia are unknown. Herein, we screened COL4A1/COL4A2 and IPD genes in a large series of ICH fetuses.MethodsA cohort of 194 consecutive ICH fetuses were first screened for COL4A1/COL4A2 variants. We manually curated a list of 64 genes involved in IPD and investigated them in COL4A1/COL4A2 negative fetuses, using exome sequencing data from 101 of these fetuses.ResultPathogenic variants of COL4A1/COL4A2 genes were identified in 36 fetuses (19%). They occurred de novo in 70% of the 32 fetuses for whom parental DNA was available. Pathogenic variants in two megakaryopoiesis genes (MPL and MECOM genes) were identified in two families with recurrent and severe fetal ICH, with variable extraneurological pathological features.ConclusionOur study emphasizes the genetic heterogeneity of fetal ICH and the need to screen both COL4A1/COL4A2 and IPD genes in the etiological investigation of fetal ICH to allow proper genetic counseling.
Autism spectrum disorder identification in schools: Impact of criteria, assessments, and student data for identification decisions
Authors: Duesenberg McKinzie D. , Burns Matthew K. 
Published: February 2022

AbstractAutism spectrum disorder (ASD) is\ often diagnosed by clinical practitioners with criteria from the American Psychiatric Association, but an educational diagnosis is usually based on state special education law and is geared towards addressing concerns within schools. The current study aims to examine the extent to which the clinical diagnosis of ASD corresponds to the educational diagnosis of Autism, and what factors and assessments influenced the diagnosis. Data consisted of 32 randomly selected deidentified initial school evaluation reports (autism = 16; non‐autism = 16) from one midwestern state. The reports were coded based on identification methods and student data. Results indicate that the Autism Diagnostic Observation Schedule, Second Edition assessment was the strongest predictor of Autism eligibility within schools, but students with a cognitive ability score that was one standard deviation below the mean (i.e., standard score £84) were more frequently identified with educational eligibility of ASD (AU) by a factor of 14.67 as compared with individuals with a higher cognitive score. Implications for future research and practice are included.
Hamiltonian chemical kinetics for studying roaming in formaldehyde dissociation: Linear and nonlinear models
Authors: Farantos Stavros C. 
Published: February 2022

AbstractA recently developed theory for formulating chemical kinetics with a Hamiltonian theory similar to classical mechanics is applied to study linear and nonlinear kinetic models for the photodissociation of formaldehyde
via roaming pathways. Chemical kinetic equations are proposed by mapping time invariant phase space structures, such as stationary points of the potential energy surface and periodic orbits, to relevant intermediate chemical species. Solving kinetic equations in the Hamiltonian framework, we calculate reaction paths to asymptotically stable equilibria for closed reactions and varying the initial concentration of H2CO at constant temperature and pressure. The reaction paths may be classified by defining a thermodynamic distance between initial and equilibrium states, as well as the entropy production. A brusselator‐type nonlinear model is proposed as the phenomenological equivalent to the periodic orbit description of roaming mechanism given before. Treating the photodissociation of formaldehyde as an open system and properly selecting the rate coefficients of the reactions and the initial concentration of formaldehyde, a periodic orbit emanates as the result of a Hamiltonian Hopf bifurcation. This yields an oscillatory reaction between the two long‐range metastable intermediates,
and
, which lead to radical and molecular products.
Microgels as drug carriers for sonopharmacology
Authors: Zou Miancheng , Zhao Pengkun , Fan Jilin , Göstl Robert , Herrmann Andreas 
Published: February 2022

AbstractThe ultrasound‐induced cleavage of covalent and non‐covalent bonds to activate drugs (sonopharmacology) is a promising concept to gain control over the action of active pharmaceutical ingredients by an external trigger. Previously, linear polymer architectures bearing drug payloads were exploited for drug release by using the principles of polymer mechanochemistry. In this work, the carrier design is altered by the polymer topology to improve the ultrasound‐triggered release of covalently anchored drugs from polymer scaffolds. We use microgels crosslinked by mechanoresponsive disulfides and copolymerized with Diels‐Alder adducts of furylated payload molecules and acetylenedicarboxylate. Force‐induced thiol formation induces a Michael‐type addition liberating the payload from the microgels. The use of microgels significantly reduces sonication times compared to linear polymer chains and shields the cargo efficiently from non‐triggered activation using ultrasound that produces inertial cavitation at a frequency of 20 kHz as model condition.
Warranty data maturity—Effect of observation time on reliability prediction and the warranty management process
Authors: Kleyner Andre , Elmore David 
Published: February 2022

AbstractWarranty data analysis is a form of life data analysis and is part of the engineering and business process of assessing product reliability and predicting the number of parts failing in the field and the associated warranty cost. However, oftentimes the prediction is started early and is based only on a few months of field data, which raises a question of data maturity. As data matures and the product is operating longer in the field the prediction changes, since the failure distribution becomes the function of the observation time. Data maturation has been known as a complicating factor in warranty data analysis affecting the accuracy of prediction, however there were very few attempts to look at how the data maturity affects the failure patterns and the probability of failure as the time in the field and consequently the observation time increases.This paper discusses the causes of data maturity, presents an analytical model to assess the maturation trends and presents several case studies based on the automotive electronics warranty data. The paper analyzes the patterns of how warranty data matures as more field data becomes available and how it affects the accuracy of prediction. It also suggests the criteria of determining the levels of data maturity.
Changing pleural fluid triglyceride levels in cirrhotic chylothorax
Authors: Chan Ka Pang , Yip Wing Ho , Chan Tina Yee Ching , Law Chun‐Yiu 
Published: February 2022

AbstractChylothorax is an uncommon disease entity, but it occasionally poses a diagnostic challenge to physicians. Pleural fluid triglyceride level has been advocated as a screening test to diagnose chylothorax. However, its level can be depressed if there is an additional pathology driving the process of pleural fluid production. We report a case of high‐volume pleural fluid output due to dual pathologies, cirrhotic hydrothorax and chylothorax, causing an initial failure to diagnose chylothorax due to low pleural fluid triglyceride level. The fluid triglyceride levels were unmasked after the treatment for underlying portal hypertension. These findings were further substantiated by positive lipoprotein electrophoresis for chylomicron. In this patient, lipoprotein electrophoresis of his pleural fluid specimen helps distinguish chylothorax as a second pathology amidst the underlying cirrhotic hydrothorax.
Granulation after stenting for tuberculous bronchial stenosis treated with tranilast: A case report
Authors: Ohashi Takuya , Miyasaka Miwako , Kawago Mitsumasa , Hirai Yoshimitsu , Kiyoi Megumi , Yata Yumi , Kawaji Mari , Fusamoto Aya , Iguchi Hideto , Nakanishi Hitomi , Nishimura Yoshiharu 
Published: February 2022

AbstractA 63‐year‐old woman was diagnosed with tuberculous bronchial stenosis of the left main bronchus following recurrent pneumonia. She underwent airway dilatation and stenting for long and severe stenosis. Initially, a Dumon Y‐stent was implanted, but repeated granulation occurred at the distal end of the stent. The granulation reappeared repeatedly despite cauterization and stent replacement. An attempt at stent removal led to worsening of scar stenosis; therefore, it was reinstalled. Finally, two self‐expandable metallic stents were implanted sequentially, and she remained asymptomatic for 14 months. After this, she presented with fever and a computed tomography showed obstructive pneumonia due to associated granulation at the distal end of the stent. She was then started on tranilast to treat the granulation with the stent in situ. Granulation almost completely disappeared after 4 months and no recurrence was noted at 12 months since the start of tranilast.
Carbon‐Encapsulated Ni3Se4/CoSe2 Heterostructured Nanospheres: Sodium/Potassium‐Ion Storage Anode with Prominent Electrochemical Properties
Authors: Zhang Yan , Wei Shuaijie , Zhao Zhipeng , Pei Xiangdong , Zhao Wei , Wang JinBao , Du Xin , Li Dan 
Published: February 2022

AbstractHeterogeneous structures are used as energy storage devices because of their ability to accelerate charge transfer, which greatly contributes to the rate capability of devices. However, the construction of heterostructures with conspicuous electrochemical properties remains a huge challenge. In this study, a design of heterostructured Ni3Se4/CoSe2 nanospheres encapsulated by a carbon shell (Ni3Se4/CoSe2@C) synthesized through facile hydrothermal and annealing methods is presented. The Ni3Se4/CoSe2@C exhibits excellent cyclic performance with a capacity of 420 mA h g−1 at 0.5 A g−1 after 100 cycles for Na‐storage and 330.1 mA h g−1 at 0.1 A g−1 after 200 cycles for K‐storage. The excellent cyclic performance can be attributed to the carbon coating that maintains the structural stability and enhances electrical conductivity, and significantly, the heterostructures that promote ion/electron transport. The sodium storage mechanism of the Ni3Se4/CoSe2@C is revealed by ex situ X‐ray powder diffraction, ex situ high‐resolution transmission electron microscopy, and in situ electrochemical impedance spectra analyses. The first principles density functional theory calculation is performed to prove that the heterostructure on the Ni3Se4/CoSe2 interface can induce an electric field and thus improve the electrochemical reaction kinetics. This study provides an effective approach for constructing heterostructured composites for high‐performance alkaline batteries.
Semantics to the rescue of document‐based XML diff: A JATS case study
Authors: Cuculovic Milos , Fondement Frederic , Devanne Maxime , Weber Jonathan , Hassenforder Michel 
Published: February 2022

ABSTRACTThe writing of digital text documents has become a longer process that usually goes through revision rounds. Document comparison is important for the human reader interested in changes made by the authors. These documents contain structural data using text‐centric XML as one of their main storage systems. Current XML diff algorithms are able to represent differences with a limited number of edit operations: insert, delete, move and update. This approach does not fit the scope of digital text document comparison where the human reader needs to understand actual modifications made by the author. With JATS being a text‐centric XML vocabulary, we propose within this paper a new XML diff algorithm called jats‐diff, able to support bijection between higher‐level modifications made by the authors, such as structural changes and restyling, and the changes detected between XML documents. In addition, jats‐diff provides similarity information between different nodes in order to measure the impact of the text changes on the XML tree.
Reactivity of the stibinidene complex [ClSb{Cr(CO)5}2(thf)]
Authors: Rummel Lena , Seidl Michael , Timoshkin Alexey Y. , Scheer Manfred 
Published: February 2022

AbstractStibinidene complexes are rare and highly sensitive low‐valent main group compounds, which have not been studied extensively for their reaction behavior so far. In the reaction with GaCl3, the stibinidene complex [ClSb{Cr(CO)5}2(thf)] (1) shows a dimerization to [ClSb{Cr(CO)5}2]2 (2) and yields the anionic double‐chlorinated compound [Cl2Sb{Cr(CO)5}2]− (3) in the reaction with different ionic nucleophiles. When using neutral nucleophiles (such as amines, isocyanides and phosphines) as reaction partners, tetrahedral complexes of the type [ClSb{Cr(CO)5}2Nu] (4: Nu=NH2Mes; 5: Nu=CN(dmp); 6: Nu=PPh3; 7: Nu=PPh2H) are formed which can be used in subsequent reactions. All of these products are among the first of their type to be synthesized and isolated.
Introduction: Thinking About Seeds
Authors: Pimbert Michel 
Published: February 2022

AbstractSeed diversity is crucial to the sustainability of food and agricultural systems. Yet as Michel Pimbert’s survey of the global ‘state of seeds’ reveals, both wild and domesticated varieties are disappearing under an onslaught of human-driven pressures. Planetary crises—the sixth great extinction and climate change—constitute one. Industrialized agriculture is another: just three crops (maize, rice and wheat) currently supply over 60% of the calories humanity obtains from food. The impacts of this impoverishment on small and Indigenous farmers, ecosystems, food security and human health are manifold, and understanding them demands that we unravel a range of intermeshed social and political factors. Disparities in wealth, gender and ethnicity, for instance, determine the way seeds are cultivated, conserved, collected and exchanged. And the primary domains of seed governance—state, corporate and farm—wield different, often unequal powers. By confronting these complexities, Pimbert asserts, we can map ways of managing seeds equitably, to support human and planetary wellbeing.
The Third Way of Seed Governance: The Potential of the Seed Commoning in Japan
Authors: Tamura Norie 
Published: February 2022

AbstractAs both material entities and “packages” of genetic information, seeds are a common—a co-managed natural resource—in communities and regions all over the world. In this analysis of Japan’s national potential for a commons approach to seed sovereignty, Norie Tamura looks through the lens of institutional change. In 2017, the revocation of the Main Crop Seeds Act, a law upholding the state-run seed system, triggered a major backlash in Japanese civil society. Many in the movement called for a revival of state control without fully recognizing the part it plays, for instance, in agricultural industrialization. Yet simultaneously, a range of seed commons exist in Japan at the village and prefectural level, as well as through the network maintained by the Japan Organic Agriculture Organization. For seed commoning to spread and consolidate in Japan, Tamura asserts a need for reintegrating the producer–user divide and fostering open communication between seed and civil sectors.
Organizations and Functions for Seed Management in East Asia: Korea, Japan and Taiwan
Authors: Tomiyoshi Mitsuyuki 
Published: February 2022

AbstractHow important are informal seed-saving systems in conserving agrobiodiversity? Mitsuyuki Tomiyoshi probes that question in the East Asian context in this survey and analysis examining the prevalence of community seed banks and other non-profits in Japan, South Korea and Taiwan. In Japan, traditional varieties are generally cultivated on the basis of heritage and culture, and an array of non-profits are involved in seed provision, domestic production, collection and networking. In South Korea, where interest in heirloom seeds has been growing since the early 2000s, comparable organizations include a research firm, cooperative and civil society network. Relevant non-profits in Taiwan, meanwhile, are at the formative stage. Informal systems are key to maintaining agrobiodiversity, Tomiyoshi concludes, but to operate sustainably they must better integrate their functions and set strategies for collaboration with public institutions.