bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants
Authors: Brazier François , Courbebaisse Marie , David Amandine , Bergerat David , Leroy Christine , Lindner Marta , Maruani Gérard , Saint Jacques Camille , Letavernier Emmanuel , Hureaux Marguerite , Vargas-Poussou Rosa , Prié Dominique 
Published: January 2023

AbstractBiallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared to humans, without urinary phosphate leakage. The mechanisms by which SLC34A3 variants disrupt phosphate/calcium metabolism are un-completely understood. In this study we explored these mechanisms in vitro using SLC34A3 variants identified in patients with urinary phosphate leakage. We analyzed the consequences of these variants on NPT2c function and the link with the phenotype of the patients. We studied 20 patients with recurrent nephrolithiasis and low serum phosphate concentration harboring variants in the SLC34A3 gene. Half of the patients carried homozygous or composite heterozygous variants. Three patients had in addition variants in SLC34A1 and SLC9A3R1 genes. All these patients benefited from a precise analysis of their phenotype. We generated 13 of these mutants by site-directed mutagenesis. Then we carried out transient transfections of these mutants in HEK cells and measured their phosphate uptake capacity under different conditions. Among the 20 patients included, 3 had not only mutations in NPT2c but also in NPT2a or NHERF1 genes. Phosphate uptake was decreased in 8 NPT2c mutants studied and normal for 5. Four variants were initially categorized as variants of uncertain significance. Expression of the corresponding mutants showed that one did not modify phosphate transport, two reduced it moderately and one abolished it. Co-transfection of the NPT2c mutants with the wild-type plasmid of NPT2c or NPT2a did not reveal dominant negative effect of the mutants on NPT2c-mediated phosphate transport. A detailed analysis of patient phenotypes did not find a link between the severity of the disorder and the level of phosphate transport impairment. NPT2c mutations classified as ACMG3 identified in patients with renal phosphate leak should be characterized by in vitro study to check if they alter NPT2c-mediated phosphate transport since phosphate uptake capacity may not be affected. In addition, research for mutations in NHERF1 and NPT2a genes should always be associated to NPT2c sequencing.
A risk model for prediction of diagnosis of cancer after ischemic stroke
Authors: Seystahl Katharina , Gramatzki Dorothee , Wanner Miriam , Weber Sung Ju , Hug Alessia , Luft Andreas R. , Rohrmann Sabine , Wegener Susanne , Weller Michael 
Published: January 2023

AbstractIt remains controversial which characteristics may predict occult cancer in stroke patients. Characteristics of patients with ischemic stroke registered in the Zurich Swiss Stroke Registry (2014 to 2016) were tested for associations with cancer diagnosis after stroke with consideration of death as competing risk for cancer diagnosis. Among 1157 patients, 34 (3%) and 55 patients (5%) were diagnosed with cancer within 1 and 3 years after stroke. Levels of white blood cells (WBC) > 9,600/µl (subdistribution hazard ratio (SHR) 3.68, p = 0.014), platelets > 400,000/µl (SHR 7.71, p = 0.001), and d-dimers ≥ 3 mg/l (SHR 3.67, p = 0.007) were independently associated with cancer diagnosis within 1 year after stroke. Occurrence of ischemic lesions in ≥ 2 vascular territories not attributed to cardioembolic etiology was associated with cancer diagnosed within 1 year after stroke in univariable analysis (SHR 3.69, p = 0.001). The area under the curve of a score from these parameters (score sum 0–4) was 0.73. A score of ≥ 2 had a sensitivity of 43% and specificity of 92% for prediction of cancer diagnosis within 1 year after stroke. We suggest further validation of a score of WBC, platelets, d-dimers and multiple ischemic lesions without cardioembolic stroke etiology for prediction of cancer diagnosis after stroke.
Fecal microbiota composition affects in vitro fermentation of rye, oat, and wheat bread
Authors: Pirkola Laura , Dicksved Johan , Loponen Jussi , Marklinder Ingela , Andersson Roger 
Published: January 2023

AbstractFermentation of dietary fiber by gut microbes produces short-chain fatty acids (SCFA), but fermentation outcomes are affected by dietary fiber source and microbiota composition. The aim of this study was to investigate the effect of two different fecal microbial compositions on in vitro fermentation of a standardized amount of oat, rye, and wheat breads. Two human fecal donors with different microbial community composition were recruited. Bread samples were digested enzymatically. An in vitro fermentation model was used to study SCFA production, dietary fiber degradation, pH, and changes in microbiota. Feces from donor I had high relative abundance of Bacteroides and Escherichia/Shigella, whereas feces from donor II were high in Prevotella and Subdoligranulum. Shifts in microbiota composition were observed during fermentation. SCFA levels were low in the samples with fecal microbiota from donor I after 8 h of fermentation, but after 24 h acetate and propionate levels were similar in the samples from the different donors. Butyrate levels were higher in the fermentation samples from donor II, especially with rye substrate, where high abundance of Subdoligranulum was observed. Dietary fiber degradation was also higher in the fermentation samples from donor II. In conclusion, fermentation capacity and substrate utilization differed between the two different microbiota compositions.
Estimating excess mortalities due to the COVID-19 pandemic in Malaysia between January 2020 and September 2021
Authors: Jayaraj Vivek Jason , Chong Diane Woei-Quan , Wan Kim-Sui , Hairi Noran Naqiah , Bhoo-Pathy Nirmala , Rampal Sanjay , Ng Chiu-Wan 
Published: January 2023

AbstractExcess mortalities are a more accurate indicator of true COVID-19 disease burden. This study aims to investigate levels of excess all-cause mortality and their geographic, age and sex distributions between January 2020-September 2021. National mortality data between January 2016 and September 2021 from the Department of Statistics Malaysia was utilised. Baseline mortality was estimated using the Farrington algorithm and data between 1 January 2016 and 31 December 2019. The occurrence of excess all-cause mortality by geographic-, age- and sex-stratum was examined from 1 January 2020 to 30 September 2021. A sub-analysis was also conducted for road-traffic accidents, ethnicity and nationality. Malaysia had a 5.5–23.7% reduction in all-cause mortality across 2020. A reversal is observed in 2021, with an excess of 13.0–24.0%. Excess mortality density is highest between July and September 2021. All states and sexes reported excess trends consistent with the national trends. There were reductions in all all-cause mortalities in individuals under the age of 15 (0.4–8.1%) and road traffic accident-related mortalities (36.6–80.5%). These reductions were higher during the first Movement Control Order in 2020. Overall, there appears to be a reduction in all-cause mortality for Malaysia in 2020. This trend is reversed in 2021, with excess mortalities being observed. Surveillance of excess mortalities can allow expedient detection of aberrant events allowing timely health system and public health responses.
Customizing virtual interpersonal skills training applications may not improve trainee performance
Authors: Lucas Gale M. , Mell Johnathan , Boberg Jill , Zenone Forrest , de Visser Ewart J. , Tossell Chad , Seech Todd 
Published: January 2023

AbstractWhile some theoretical perspectives imply that the context of a virtual training should be customized to match the intended context where those skills would ultimately be applied, others suggest this might not be necessary for learning. It is important to determine whether manipulating context matters for performance in training applications because customized virtual training systems made for specific use cases are more costly than generic “off-the-shelf” ones designed for a broader set of users. Accordingly, we report a study where military cadets use a virtual platform to practice their negotiation skills, and are randomly assigned to one of two virtual context conditions: military versus civilian. Out of 28 measures capturing performance in the negotiation, there was only one significant result: cadets in the civilian condition politely ask the agent to make an offer significantly more than those in the military condition. These results imply that—for this interpersonal skills application, and perhaps ones like it—virtual context may matter very little for performance during social skills training, and that commercial systems may yield real benefits to military scenarios with little-to-no modification.
Tube length optimization of titania nanotube array for efficient photoelectrochemical water splitting
Authors: Inoue Kazuki , Matsuda Atsunori , Kawamura Go 
Published: January 2023

AbstractAnodic TiO2 nanotube arrays (TNTAs) have attracted much attention due to their excellent photoelectrochemical (PEC) properties. In this work, the tube length of TNTAs was optimized for efficient PEC water splitting under two different conditions, in which very few or a massive amount of gas bubbles were generated on the electrodes. As a result, relatively longer TNTAs were found to be preferable for higher PEC performance when a larger number of bubbles were generated. This suggests that the mass transport in the electrolyte is assisted by the generated bubbles, so that the electrode surfaces are more easily exposed to the fresh electrolyte, leading to the higher PEC performance.
Mg3Al2Si3O12 jeffbenite inclusion in super-deep diamonds is thermodynamically stable at very shallow Earth’s depths
Authors: Nestola Fabrizio , Prencipe Mauro , Belmonte Donato 
Published: January 2023

AbstractJeffbenite (having the same chemical composition of pyrope, ~ Mg3Al2Si3O12, and also known as TAPP phase) is a mineral inclusion only found in diamonds formed between about 300 and 1000 km depth) and is considered a stable phase in the transition zone (410–660 km depth) and/or in the shallowest regions of the lower mantle (around 660–700 km depth). This rare and enigmatic mineral is considered to be a pressure marker for super-deep diamonds and therefore it has a key role in super-deep diamond research. However, the pressure–temperature stability fields for Mg3Al2Si3O12 jeffbenite is unknown and its actual formation conditions remain unexplored. Here we have determined the thermodynamic pressure–temperature stability field for the jeffbenite Mg-end member and surprisingly discovered that it is stable at low pressure–temperature conditions, i.e., 2–4 GPa at 800 and 500 °C. Thus, Mg3Al2Si3O12 jeffbenite is not the high-pressure polymorph of pyrope and is likely a retrogressed phase formed during the late ascent stages of super-deep diamonds to the surface.
Improving clinical trial design using interpretable machine learning based prediction of early trial termination
Authors: Kavalci Ece , Hartshorn Anthony 
Published: January 2023

AbstractThis study proposes using a machine learning pipeline to optimise clinical trial design. The goal is to predict early termination probability of clinical trials using machine learning modelling, and to understand feature contributions driving early termination. This will inform further suggestions to the study protocol to reduce the risk of wasted resources. A dataset containing 420,268 clinical trial records and 24 fields was extracted from the ct.gov registry. In addition to study characteristics features, 12,864 eligibility criteria search features are used, generated using a public annotated eligibility criteria dataset, CHIA. Furthermore, disease categorization features are used allowing a study to belong more than one category specified by clinicaltrials.gov. Ensemble models including random forest and extreme gradient boosting classifiers were used to train and evaluate predictive performance. We achieved a Receiver Operator Characteristic Area under the Curve score of 0.80, and balanced accuracy of 0.70 on the test set using gradient boosting classification. We used Shapley Additive Explanations to interpret the termination predictions to flag feature contributions. The proposed pipeline will lead to an optimised clinical trial design and consequently help potentially life-saving treatments reach patients faster.
Aβ efflux impairment and inflammation linked to cerebrovascular accumulation of amyloid-forming amylin secreted from pancreas
Authors: Verma Nirmal , Velmurugan Gopal Viswanathan , Winford Edric , Coburn Han , Kotiya Deepak , Leibold Noah , Radulescu Laura , Despa Sanda , Chen Kuey C. , Van Eldik Linda J. , Nelson Peter T. , Wilcock Donna M. , Jicha Gregory A. , Stowe Ann M. , Goldstein Larry B. , Powel David K. , Walton Jeffrey H. , Navedo Manuel F. , Nystoriak Matthew A. , Murray Andrew J. , Biessels Geert Jan , Troakes Claire , Zetterberg Henrik , Hardy John , Lashley Tammaryn , Despa Florin 
Published: January 2023

AbstractImpairment of vascular pathways of cerebral β-amyloid (Aβ) elimination contributes to Alzheimer disease (AD). Vascular damage is commonly associated with diabetes. Here we show in human tissues and AD-model rats that bloodborne islet amyloid polypeptide (amylin) secreted from the pancreas perturbs cerebral Aβ clearance. Blood amylin concentrations are higher in AD than in cognitively unaffected persons. Amyloid-forming amylin accumulates in circulating monocytes and co-deposits with Aβ within the brain microvasculature, possibly involving inflammation. In rats, pancreatic expression of amyloid-forming human amylin indeed induces cerebrovascular inflammation and amylin-Aβ co-deposits. LRP1-mediated Aβ transport across the blood-brain barrier and Aβ clearance through interstitial fluid drainage along vascular walls are impaired, as indicated by Aβ deposition in perivascular spaces. At the molecular level, cerebrovascular amylin deposits alter immune and hypoxia-related brain gene expression. These converging data from humans and laboratory animals suggest that altering bloodborne amylin could potentially reduce cerebrovascular amylin deposits and Aβ pathology.
The importance of placental lipid metabolism across gestation in obese and non-obese pregnancies
Authors: Siemers Kyle M. , Baack Michelle L. 
Published: January 2023

Abstract
In this commentary, we highlight a new study by Bidne and colleagues that identifies changes in placental lipids and lipid metabolic enzymes that happen not only in the context of parental obesity but also from as early as 4 weeks of gestation. Their assessment of lipid and enzyme content demonstrates a feasible approach to untangling the complexities of metabolic pathologies that impact the lifelong health of both parent and child.
A rapid state estimation method for calculating transmission capacity despite cyber security concerns
Authors: Eidiani Mostafa 
Published: January 2023

AbstractThe present paper simulates cyberattacks in DIgSILENT for energy management and state estimation. Assuming hackers have adequate information to alter input data, they can alter the power market and the available transmission capability (ATC). Detection programs may fail if false information is coordinated in the presence of error information. The minimum number of network measurements before the state estimation program converges is 54% of the total measurements. In the new method, weighted least squares improve the state estimation speed. The new method can also improve the speed of ATC. In addition to identifying the cyberattack, the algorithm in the present paper can be used to identify the target of the attack. It also uses complete and correct information and even incorrect measurements to report state estimator errors. The present paper shows that ATC values follow the inverse pattern of load and loss. A real sample network is presented at the end of the paper to test the suggested method.
Distributed energy sharing algorithm for Micro Grid energy system based on cloud computing
Authors: Su Wenwei , Shi Yan 
Published: January 2023

AbstractThe reduction of adverse environmental effects and the socioeconomic advantages of renewable energy systems promote greater integration of distributed energy systems into the traditional electrical networks. A new type of sharing economy is emerging with the sharing of energy resources to reduce transaction costs by using platform services in the cloud. Given the obstacles posed by the legacy system and various forms of renewable energy integration, Distributed Energy and Micro Grids (DE‐MG) are an efficient means of raising the quality of energy services. Rules for microgrid scalability, maintaining a budget, and security can make this difficult. Consumers are better at receiving the best renewable energy allotment price using a cloud‐based Peer‐to‐Peer (P2P) network. The main objective is to lower the daily energy cost of microgrid power in commercial buildings. In the proposed work, cloud‐based P2P for peer‐Multi Agent System (p‐MAS) optimization techniques are used to reduce system peak and integrated Demand Response (DR) with Energy Management System (EMS) in a commercial MG. To fill knowledge gaps about how various power market architectures and individual decision‐making processes impact local interactions and market outcomes, cloud‐based P2P for Modelling Leveraging Agents (MLA) is used for bill calculation. A performance measure is finally created for cost evaluation and reliability to measure the social benefits of cloud‐based P2P models for exchanging energy. For various price environments and resource types, a comparison between the proposed cloud‐based P2P model with an existing P2P model for exchanging energy is provided. The primary use of a distributed P2P model for exchanging power in a microgrid is to reduce electricity costs and increase grid environment reliability.
Favoriser le développement du raisonnement clinique des étudiants en médecine : une démarche d’amélioration
Authors: Cleverley-Leblanc Heidi , Chemin Clara , Sader Julia , Junod Noëlle , Zamberg Ido , Schiffer Eduardo , Nendaz Mathieu , Audétat Marie-Claude 
Published: January 2023

Contexte et problématique : La littérature scientifique récente nous force à constater que les étudiants en médecine rencontrent des difficultés pour développer leurs raisonnement clinique. De plus, il semblerait qu’ils gagnent à être stimulés afin de raisonner. Or, ils manquent d’opportunités et de ressources pédagogiques à cet effet. Comment encourager et rendre accessible l’apprentissage du raisonnement clinique, aux étudiants en médecine ? Buts : Présenter les réflexions qui ont conduit à la création d’un nouvel outil pédagogique numérique, visant à favoriser le développement du raisonnement clinique dans le contexte de soins, chez les étudiants de la faculté de médecine à l’Université de Genève. Description de l’innovation : Nous avons développé une vidéo reprenant une consultation médicale complète, exposant explicitement le raisonnement clinique du médecin durant l’anamnèse et l’examen physique. Nous dévoilons le « pourquoi » qui se cache derrière les questions et les gestes de l’examen clinique, et mettons ainsi du sens sur chaque parole et geste du médecin, lors d’une consultation. Conclusion : La valeur des connaissances des étudiants réside dans leur capacité à se les approprier, les exploiter et les réinvestir avec justesse dans une intervention clinique. Notre outil permet de soutenir l’apprentissage précoce du raisonnement clinique afin de permettre aux étudiants de mettre en valeur leurs connaissances en les exploitants de manière pertinente.
Einklemmungsphänomene als Ursache für eine Parese des
N. abducens
Authors: Engemann Katharina 
Published: January 2023

ZUSAMMENFASSUNGIn osteopathischen Praxen stellen sich immer wieder Patienten mit einer
Lähmung der Augenmuskeln vor. Paresen der Augenmuskulatur können
aufgrund verschiedenster Ursachen entstehen. Sie können traumatisch oder
vaskulär bedingt, Symptom einer Raumforderung oder einer anderen
neurologischen Erkrankung sein. Welche Möglichkeiten bestehen vonseiten
der Osteopathie, den Heilungsprozess zu unterstützen?
‘Building back better’ or sustaining the unsustainable? The climate impacts of Bank of England QE in the Covid-19 pandemic
Authors: Bailey Daniel 
Published: January 2023

AbstractThe environmental impacts of monetary policy received academic attention after the 2008 financial crisis and the ‘market neutral’ quantitative easing policies that followed. This article examines the Bank of England’s Corporate Covid Financing Facility (CCFF) and the Asset Purchasing Facility (APF) between June 2020 and June 2021 to assess whether the Bank’s response to the COVID-19 pandemic was aligned with the transition to sustainability. The data indicates that the Bank of England’s monetary allocation schemes again served as a panacea for businesses with ecologically intensive business models and a Treasury committed to restoring the pre-existing growth model. Indeed, the Bank’s QE schemes now represents an element of the crisis management governance that repeatedly ‘locks in’ the ecologically-calamitous economic trajectory at potential critical junctures. The Bank’s shielding of its technocratic and depoliticised status has thus far inhibited any leadership role in tackling the climate crisis, despite its growing power as an actor of economic governance at times of crisis and purported enthusiasm to ‘build back better’.
Measuring the occupational segregation of males and females in Pakistan in a multigroup context
Authors: Khan Muhammad Zaheer , Said Rusmawati , Mazlan Nur Syazwani , Nor Norashidah Mohamed 
Published: January 2023

AbstractThis study measures the occupational segregation of male and female workers in Pakistan using the microdata obtained from the labour force survey of Pakistan for the period 2013–18. The local segregation method is used to study occupational segregation by gender and for several subgroups based on individual and labour market characteristics. Results show that female segregation explains a substantially large proportion of the overall gender segregation, even though the demographic weight of the female labour force is low compared to the male labour force. The analysis of different age groups shows that occupational segregation is significantly higher among elderly males than males in other age groups. Similarly, for females, occupational segregation is significantly higher among elderly females compared to females in other age groups and males in any age group. Furthermore, it is also found that human capital characteristics such as higher education do not contribute to reducing occupational segregation in the labour market, as both males and females with higher levels of education are more segregated than those with low education. Finally, the study concludes that the devaluation and compensating differentials theories partially explain gender segregation in Pakistan.