bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic counseling students' and recent graduates' attitudes toward psychiatric illness
Authors: Girod Rebecca , Thompson Patricia , Davis Claire 
Published: November 2021

AbstractDue to the high prevalence of mental illness in the general population, genetic counselors are likely to encounter patients with mental illness in practice, regardless of specialty. However, previous studies have shown that recent graduates of genetic counseling programs do not feel comfortable discussing mental illness in clinical encounters. One possible explanation for this discomfort is stigma toward mental illness, a well‐documented phenomenon both in society and in the healthcare field. Previous studies of this phenomenon in genetic counselors and trainees have relied on self‐report measures and are vulnerable to social desirability bias. We sought to gain a holistic understanding of attitudes toward mental illness held by genetic counseling trainees by measuring implicit and explicit biases. This study assessed 141 responses from genetic counseling students and recent graduates from master's graduate programs across North America. They were asked to complete a survey, which included a demographic questionnaire, a scale that has been validated for use for a variety of healthcare professionals (Nordt et al. 2006, Schizophrenia Bulletin, 32, 709), measuring explicit attitudes toward those with depression and schizophrenia (i.e., social distance and stereotype endorsement), and an implicit association test. Mean scores on the social distance and stereotype endorsement scales were higher for schizophrenia than depression, indicating higher levels of explicit bias toward the former than the latter. Participants held slightly significant implicit bias toward individuals with either physical or mental illness. These data suggest that unconscious or implicit bias may not contribute to unpreparedness to address psychiatric disorders in clinical practice that has been previously reported by new graduates. Therefore, genetic counseling trainees may be receptive to clinically relevant education pertaining to mental illness. These results could inform the curriculum of genetic counseling programs and facilitate provision of services to this population.
Two siblings with galactose mutarotase deficiency: Clinical differences
Authors: Yazici Havva , Canda Ebru , Altınok Yasemin Atik , Ucar Sema Kalkan , Coker Mahmut 
Published: November 2021

AbstractGalactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presenting two siblings with GALM deficiency; one patient presented with cataracts and her brother was asymptomatic. We evaluated the first case due to a cataract at 3 months old. She had elevated galactose and galactose‐1‐phosphate and normal galactose‐1‐phosphate uridylyltransferase (GALT) activity. Genetic analysis and other laboratory and clinical findings excluded galactokinase‐1 (GALK1) and UDP‐galactose 4′‐epimerase (GALE) deficiencies. She had a homozygous mutation p. Gly277Arg (c.829G>A) in the GALM (NM_138801) gene. She was 3 years old at the last visit, and her physical examination was normal, except for cataracts. The same mutation was found to be homozygous in the patient's asymptomatic sibling during family screening. He had normal blood galactose and galactose‐1‐phosphate. This study highlights the importance of evaluating the whole galactose metabolism in terms of GALM deficiency in patients with cataracts.
An autonomous buoy system for observing spring freshet plumes under landfast sea ice
Authors: Laney Samuel R. , Okkonen Stephen 
Published: November 2021

AbstractAn ice buoy system was developed to measure oceanographic properties of freshwater plumes that occur in Arctic coastal oceans under landfast sea ice during the spring freshet. By implanting such systems into sea ice weeks or months in advance of the freshet event, sensors can be located immediately underneath the sea ice layer in situ at depths that riverine freshwater will occupy later when the freshet arrives. This observing approach is modular, can accommodate a wide range of sensors, is designed intentionally for use in remote regions, and can be readily deployed in any nearshore region that can be accessed by snowmachine. The buoy system incorporates an integral floatation collar that allows it to continue sampling as the coastal ocean becomes progressively ice free in the months after the freshet event. Automated sampling and telemetry via a satellite data network provide near‐real‐time observations of the timing and character of under‐ice freshet plumes. An assessment study was done with an array of these ice buoy systems, outfitted with basic hydrographic and optical sensors and deployed in advance of the 2018 and 2019 freshets in landfast sea ice near the mouths of three coastal rivers in Stefansson Sound, Alaska.
Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient
Authors: Wang Yingchen , Chen Qing , Zhang Feng , Yang Xi , Shang Lingyue , Ren Shuting , Pan Yuncheng , Zhou Zixue , Li Guoqing , Fang Yunzheng , Jin Li , Wu Yanhua , Zhang Xiaojin 
Published: November 2021

AbstractBackgroundPremature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of cases can be explained by genetic causes. The transcription factor WT1 has long been reported to play a crucial role in ovary function. Wt1‐mutated female mice exhibited POI‐like phenotypes.Methods and ResultsIn this study, whole exome sequencing (WES) was applied to find the cause of POI in Han Chinese women. A nonsense variant in the WT1 gene: NM_024426.6:c.1387C>T(p.R463*) was identified in a non‐syndromic POI woman. The variant is a heterozygous de novo mutation that is very rare in the human population. The son of the patient inherited the mutation and developed Wilms’ tumor and urethral malformation at the age of 7. According to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines, the novel variant is categorized as pathogenic. Western blot analysis further demonstrated that the WT1 variant could produce a truncated WT1 isoform in vitro.ConclusionsA rare heterozygous nonsense WT1 mutant is associated with non‐syndromic POI and Wilms’ tumor. Our finding characterized another pathogenic WT1 variant, providing insight into genetic counseling.
Optimal operation of a grid‐connected battery energy storage system over its lifetime
Authors: Kordonis Ioannis , Charalampidis Alexandros C. , Haessig Pierre 
Published: November 2021

AbstractThis paper deals with the optimal control of grid‐connected Battery Energy Storage Systems (BESSs) operating for energy arbitrage. An important issue is that BESSs degrade over time, according to their use, and thus they are usable only for a limited number of cycles. Therefore, the time horizon of the optimization depends on the actual operation of the BESS. We focus on Li‐ion batteries and use an empirical model to describe battery degradation. The BESS model includes an equivalent circuit for the battery and a simplified model for the power converter. In order to model the energy price variations, we use a linear stochastic model that includes the effect of the time‐of‐the‐day. The problem of maximizing the revenues obtained over the BESS lifetime is formulated as a stochastic optimal control problem with a long, operation‐dependent time horizon. First, we divide this problem into a finite set of subproblems, such that for each one of them, the State of Health (SoH) of the battery is approximately constant. Next, we reformulate approximately every subproblem into the minimization of the ratio of two long‐time average‐cost criteria and use a value‐iteration‐type algorithm to derive the optimal policy. Finally, we present some numerical results and investigate the effects of the energy loss parameters, degradation parameters, and price dynamics on the optimal policy.
Sensing, feeling, thinking: Relating to nature with the body, heart and mind
Authors: Pramova Emilia , Locatelli Bruno , Valdivia‐Díaz Merelyn , Vallet Améline , Quispe Conde Yésica , Djoudi Houria , Colloff Matthew J. , Bousquet François , Tassin Jacques , Munera Roldan Claudia 
Published: November 2021

Abstract

The cultural ecosystem services (CES) construct has evolved to accommodate multiple worldviews, knowledge systems and conceptualizations of nature and values, including relational and mental health values.

Cultural ecosystem services research and practice has mostly focused on cognitive ways of constructing and expressing intangible values of, and relationships with, nature. But our non‐material relationships with nature are not exclusively cognitive: sensory and affective processes are fundamental to how we build, enact and experience these relationships.

Building on the core ideas of relational values, embodied experiences and connectedness with nature, we present a simple framework to explore the sensory, affective and cognitive dimensions of human–nature interactions, as well as the settings and activities that frame them.

We demonstrate its use in a case study in the Peruvian Andes, where we applied an inductive, exploratory approach to elicit personal imageries and imaginings related to nature, place and recreation. The narratives shared were rich with symbolism and personal sensory experiences, emotions and memories, which the interviewees linked with general assertions about people, place and nature.

We discuss the usefulness of such a perspective for CES research, and for human well‐being, environmental justice and landscape management.
Using thrombocytopenia modeling to investigate the mechanisms underlying platelet depletion induced by pan‐proteasome inhibitors
Authors: Lignet Floriane , Becker Andreas D. , Gimmi Claude , Rohdich Felix , El Bawab Samer 
Published: November 2021

AbstractPan‐proteasome inhibitors (pPIs) significantly improve outcomes in patients with multiple myeloma; however, their indiscriminate inhibition of multiple proteasome and immunoproteasome subunits causes diverse toxicities, including thrombocytopenia. We investigated the mechanisms underlying the platelet depletion induced by the pPIs bortezomib, carfilzomib, and ixazomib. An established thrombocytopenia model was adapted for each compound (bortezomib, ixazomib, and carfilzomib) to compare the following two pharmacodynamic mechanisms: a reversible inhibition of new progenitor cell formation (the myelosuppression model) and a reversible effect on the function of megakaryocytes to bud new platelets (platelet formation model). Bortezomib, ixazomib, and carfilzomib plasma concentration profiles and platelet counts were extracted from the literature. Pharmacokinetic (PK) and thrombocytopenia models were developed to predict the PK of these drugs and to describe their effects on proliferating cells and platelet budding. The PK models reproduced the exposure of the three compounds at steady state well compared with those reported in the literature. Both the platelet formation and myelosuppression models seemed able to describe the platelet depletion caused by bortezomib, ixazomib, and carfilzomib. Estimated structural parameters in the myelosuppression model were in the range of the values reported in the literature, whereas the mean transit time estimated with the platelet formation model was 3‐fold to 10‐fold higher than the highest reported value. The model of drug‐induced myelosuppression yielded estimates of structural parameters in the range of those previously reported. The platelet formation model captured the temporal variation reported in clinical studies.
Alnustone inhibits the growth of hepatocellular carcinoma via ROS‐ mediated PI3K/Akt/mTOR/p70S6K axis
Authors: Wang Linlin , Cheng Li , Ma Li , Ahmad Farooqi Ammad , Qiao Gan , Zhang Yuxi , Ye Hanlin , Liu Minghua , Huang Jianlin , Yang Xiaohui , Lin Xiukun , Cao Shousong 
Published: November 2021

AbstractAlnustone, a diarylheptane compound, exhibits potent growth inhibition against hepatocellular carcinoma (HCC) BEL‐7402 cells. However, the underlying mechanisms associated with its anticancer activity remain unknown. In the present study, we evaluated the anticancer effect of alnustone against several human cancers focused on HCC and the possible associated mechanisms. The results showed that alnustone significantly inhibited the growth of several cancer cells by CCK‐8 assay. Alnustone markedly induced apoptosis and decreased mitochondrial membrane potential in BEL‐7402 and HepG2 cells. Alnustone inhibited the expression of proteins related to apoptosis and PI3K/Akt/mTOR/p70S6K pathways and generated ROS production in BEL‐7402 and HepG2 cells. Moreover, N‐acetyl‐L‐cysteine (NAC, a ROS inhibitor) could significantly reverse the effects of alnustone on the growth inhibition of BEL‐7402 and HepG2 cells and the expression of proteins related to apoptosis and PI3K/Akt/mTOR signaling pathway in HepG2 cells. Furthermore, alnustone significantly inhibited tumor growth of HepG2 xenografts, obviously induced apoptosis in the tumor tissues and improved the pathological condition of liver tissues of mice in vivo. The study provides evidence that alnustone is effective against HCC via ROS‐mediated PI3K/Akt/mTOR/p70S6K pathway and the compound has the potential to be developed as a novel anticancer agent for the treatment of HCC clinically.
Degradation analysis on trend gamma process
Authors: Wang Yi‐Fu , Huang Yufen , Liao Wei‐Chieh 
Published: November 2021

AbstractManufactures always face a big challenge to obtain the sufficient reliability information for high‐quality products when only a relatively short time period is available for an internal life testing. Fortunately, if QCs exists, whose degradation over time can be related to reliability, an approach is suggested to collect sufficient degradation data for estimating the product's lifetime distribution more accurately. In numerical applications, the gamma process (GP) is commonly used when the degradation path is strictly increasing. However, in some circumstances, the GP is not able to successfully capture the degradation path. One resolution to tackle this problem is to consider the random effect into the GP model. In this paper, we propose a trend gamma process (TGP), which integrated the merits of trend function into a GP model, as an alternative approach to overcome this obstacle. The proposed TGP model is a generalized formulation of GP model, and it is attempted to transform a monotonic stochastic process into a GP. The results based on simulation studies and real data examples illustrate that our proposed TGP model is suitable for widely use when the degradation path is monotonically increasing.
Intrinsically Honeycomb‐Patterned Hydrogenated Graphene
Authors: Song Yang , Qian Kai , Tao Lei , Wang Zhenyu , Guo Hui , Chen Hui , Zhang Shuai , Zhang Yu‐Yang , Lin Xiao , Pantelides Sokrates T. , Du Shixuan , Gao Hong‐Jun 
Published: November 2021

AbstractSince the advent of graphene ushered the era of 2D materials, many forms of hydrogenated graphene have been reported, exhibiting diverse properties ranging from a tunable bandgap to ferromagnetic ordering. Patterned hydrogenated graphene with micron‐scale patterns has been fabricated by lithographic means. Here, successful millimeter‐scale synthesis of an intrinsically honeycomb‐patterned form of hydrogenated graphene on Ru(0001) by epitaxial growth followed by hydrogenation is reported. Combining scanning tunneling microscopy observations with density‐functional‐theory (DFT) calculations, it is revealed that an atomic‐hydrogen layer intercalates between graphene and Ru(0001). The result is a hydrogen honeycomb structure that serves as a template for the final hydrogenation, which converts the graphene into graphane only over the template, yielding honeycomb‐patterned hydrogenated graphene (HPHG). In effect, HPHG is a form of patterned graphane. DFT calculations find that the unhydrogenated graphene regions embedded in the patterned graphane exhibit spin‐polarized edge states. This type of growth mechanism provides a new pathway for the fabrication of intrinsically patterned graphene‐based materials.
In Situ Magnetic Alignment of a Slurry of Tandem Semiconductor Microwires Using a Ni Catalyst
Authors: Gulati Saumya , Mulvehill Matthew C. , Pishgar Sahar , Spurgeon Joshua M. 
Published: November 2021

AbstractSlurries of semiconductor particles individually capable of unassisted light‐driven water‐splitting are modeled to have a promising path to low‐cost solar hydrogen generation, but they have had poor efficiencies. Tandem microparticle systems are a clear direction to pursue to increase efficiency. However, light absorption must be carefully managed in a tandem to prevent current mismatch in the subcells, which presents a possible challenge for tandem microwire particles suspended in a liquid. In this work, a Ni‐catalyzed Si/TiO2 tandem microwire slurry is used as a stand‐in for an ideal bandgap combination to demonstrate proof‐of‐concept in situ alignment of unassisted water‐splitting microwires with an external magnetic field. The Ni hydrogen evolution catalyst is selectively photodeposited at the exposed Si microwire core to serve as the cathode site as well as a handle for magnetic orientation. The frequency distribution of the suspended microwire orientation angles is determined as a function of magnetic field strength under dispersion with and without uplifting microbubbles. After magnetizing the Ni bulb, tandem microwires can be highly aligned in water under a magnetic field despite active dispersion from bubbling or convection.
Integrating competency modeling in talent management: Framework for implications in a disruptive environment
Authors: Shet Sateesh V. , Bajpai Ankita 
Published: November 2021

AbstractThis research explores the challenges encountered in integrating competency modeling (CM) in talent management (TM) and proposes a framework for this integration. Using CM practices and TM implementation perspectives, a framework was developed for integrating CM in TM. Furthermore, this research used a multiple cross‐case study design approach involving organizations practicing CM. In‐depth interviews with practicing HR managers helped identify the challenges and issues related to CM integration in TM. To address these challenges, a framework involving multiple alignments with TM was developed. The dimensions of this alignment comprise functionality, information system, capability, governance, and contextual integration. The integration aspects of CM in TM, which have been discussed in detail, will assist researchers and practitioners.
Nasal adenocarcinoma: Diagnosis and treatment in a pet rabbit (Oryctolagus cuniculi)
Authors: Silvetti Sergio 
Published: November 2021

AbstractA 10‐year‐old male Rex rabbit was seen for unilateral epiphora and increased sneezing repeatedly over a 21‐month period. Initial radiographic imaging was unremarkable, but the right tear duct was consistently obstructed preventing flushing. After recurrence of the initial signs and the failure of the medical treatments, a computed tomography scan highlighted the extent of the lesion and enabled the planning of the surgical intervention. The case was managed with a dorsal rhinotomy approach, a technique well described in dogs and rabbits. Following histology, a diagnosis of a low‐grade nasal adenocarcinoma was made. Cases of recurrent rhinitis that are poorly responsive to medical treatments should be approached in a more aggressive diagnostic way to confirm or rule out anatomical abnormalities of the nasal cavities, even without clear signs of purulent or haemorrhagic discharge.
Establishing the functional relevancy of white matter connections in the visual system and beyond
Authors: Grotheer Mareike , Kubota Emily , Grill-Spector Kalanit 
Published: November 2021

AbstractFor over a century, researchers have examined the functional relevancy of white matter bundles. Consequently, many large-scale bundles spanning several centimeters have been associated in their entirety with specific brain functions, such as language or attention. However, these coarse structural–functional relationships are at odds with modern understanding of the fine-grained functional organization of human cortex, such as the mosaic of category-selective regions in ventral temporal cortex. Here, we review a multimodal approach that combines fMRI to define functional regions of interest within individual’s brains with dMRI tractography to identify the white matter bundles of the same individual. Combining these data allows to determine which subsets of streamlines within a white matter bundle connect to specific functional regions in each individual. That is, this approach identifies the functionally defined white matter sub-bundles of the brain. We argue that this approach not only enhances the accuracy of interpreting the functional relevancy of white matter bundles, but also enables segmentation of these large-scale bundles into meaningful functional units, which can then be linked to behavior with enhanced precision. Importantly, this approach has the potential for making new discoveries of the fine-grained functional relevancy of white matter connections in the visual system and the brain more broadly, akin to the flurry of research that has identified functional regions in cortex.