bluuebunny/crossref_metadata_2025_split huggingface dataset:
Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29
Authors: In Lee Jae , Choi Ja Young , Yang Shin‐Seung 
Published: June 2024

AbstractBackgroundSpinocerebellar ataxia 29 (SCA29) is a rare genetic disorder characterized by early‐onset ataxia, gross motor delay, and infantile hypotonia, and is primarily associated with variants in the ITPR1 gene. Cases of SCA29 in Asia are rarely reported, limiting our understanding of this disease.MethodsA female Korean infant, demonstrating clinical features of SCA29, underwent evaluation and rehabilitation at our outpatient clinic from the age of 3 months to the current age of 4 years. Trio‐based genome sequencing tests were performed on the patient and her biological parents.ResultsThe infant initially presented with macrocephaly, hypotonia, and nystagmus, with nonspecific findings on initial neuroimaging. Subsequent follow‐up revealed gross motor delay, early onset ataxia, strabismus, and cognitive impairment. Further neuroimaging revealed atrophy of the cerebellum and vermis, and genetic analysis revealed a de novo pathogenic heterozygous c.800C>T, p.Thr267Met missense mutation in the ITPR1 gene (NM_001378452.1).ConclusionThis is the first reported case of SCA29 in a Korean patient, expanding the genetic and phenotypic spectrum of ITPR1‐related ataxias. Our case highlights the importance of recognizing early‐onset ataxic symptoms, central hypotonia, and gross motor delays with poor ocular fixation, cognitive deficits, and isolated cerebellar atrophy as crucial clinical indicators of SCA29.
A monoallelic UXS1 variant associated with short‐limbed short stature
Authors: Rustad Cecilie F. , Backe Paul Hoff , Jin Chunsheng , Merckoll Else , Tveten Kristian , Maciej‐Hulme Marissa Lucy , Karlsson Niclas , Prescott Trine , Sand Elise Sandås , Woldseth Berit , Elgstøen Katja Benedikte Prestø , Holla Øystein L. 
Published: June 2024

AbstractBackgroundSerine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP‐glucuronate decarboxylase 1, which catalyzes synthesis of UDP‐xylose, the donor of the first building block in the linker. Defects in other enzymes involved in formation of the tetrasaccharide linker cause so‐called linkeropathies, characterized by short stature, radio‐ulnar synostosis, decreased bone density, congenital contractures, dislocations, and more.MethodsWhole exome sequencing was performed in a father and son who presented with a mild skeletal dysplasia, as well as the father's unaffected parents. Wild‐type and mutant UXS1 were recombinantly expressed in Escherichia coli and purified. Enzyme activity was evaluated by LC–MS/MS. In vivo effects were studied using HeparinRed assay and metabolomics.ResultsThe son had short long bones, normal epiphysis, and subtle metaphyseal changes especially in his legs. The likely pathogenic heterozygous variant NM_001253875.1(UXS1):c.557T>A p.(Ile186Asn) detected in the son was de novo in the father. Purified Ile186Asn‐UXS1, in contrast to the wild‐type, was not able to convert UDP‐glucuronic acid to UDP‐xylose. Plasma glycosaminoglycan levels were decreased in both son and father.ConclusionThis is the first report linking UXS1 to short‐limbed short stature in humans.
Residual strength and failure mechanism of CF/PPS composites with delamination damage
Authors: Yu Mingming , Liu Hongxiang , Xiao Rongbin , Liu Xueqiang , Xie Wang , Ge Lili , Fang Lin , Ren Musu , Sun Jinliang 
Published: June 2024

AbstractDelamination is one form of damage in composite laminates. The effects of delamination damage locations (thickness direction of laminates) on the residual compressive strength and failure mechanism of carbon fiber/polyphenylene sulfide (CF/PPS) composites are studied by damage morphology, full‐field strain and finite element simulation. The closer the delamination is to the center of the composite, the lower the residual compressive strength. The failure mode of composites is dominated by 0° fiber fracture, which is divided into bulging, delamination propagation, and fracture. The delamination locations significantly affect the first two stages.Highlights
Constructing delamination damage in composites by interlayer preset defects.
Simulation and damage analysis to reveal the mechanism of compression failure.
The relationship between delamination depth and damage stage is revealed.
Exploration of the anthocyanin and proanthocyanidin profile of Greek red grape skins belonging to Vradiano, Limnio, and Kotsifali cultivars, analyzed by a novel LC‐QTOF‐MS/MS method
Authors: Karadimou Christina , Petsa Elissavet , Ouroumi Niki‐Athina , Papadakis Emmanouil‐Nikolaos , Kontoudakis Nikolaos , Theocharis Serafeim , Mourtzinos Ioannis , Menkissoglu‐Spiroudi Urania , Kalogiouri Natasa P. , Koundouras Stefanos 
Published: June 2024

AbstractIntroductionWinegrape varieties Kotsifali, Limnio, and VradianoObjectiveThe aim of this study was to develop a liquid chromatographic quadrupole time‐of‐flight tandem mass spectrometric (LC‐QTOF‐MS/MS) method for the investigation of the anthocyanin and proanthocyanidin content of Greek grape varieties employing target and suspect screening strategies.MethodologyA novel LC‐QTOF‐MS/MS method was developed and validated to assess the anthocyanin content of Kotsifali, Limnio, and Vradiano grape varieties. Sixteen grape samples were collected from the main growing areas of each variety in Greece. The influence of the grape variety on the anthocyanin and proanthocyanidin composition of three Greek winegrapes was investigated using chemometrics.ResultsExcellent linearity (R2 > 0.99) was achieved for all the target analytes, and recoveries ranged between 90.1% and 119.1%. The limits of quantification (LOQs) and limits of detection (LODs) were calculated over the range of 0.020–0.40 mg/g and 0.010–0.13 mg/g, respectively. The RSD% was lower than 9.1% and 7.3% for intra‐day and inter‐day studies, respectively, indicating satisfactory trueness and precision. Target and suspect screening resulted in the identification of 5 and 26 anthocyanins, respectively.ConclusionsKotsifali variety exhibited a higher concentration of anthocyanins compared with Vradiano and Limnio. Higher levels of mean degree of polymerization (mDp) and different percentage levels of prodelphinidins (%P) were established among the varieties.
Hoarding medication and suicide attempts with 1180 tablets of mirtazapine overdose: A case report
Authors: Kageyama Yuki , Sukigara Ayaka , Goto Ayako , Inoue Koki 
Published: June 2024

AbstractBackgroundConfirming a patient's consistent adherence to prescribed medication remains a persistent challenge for healthcare professionals. One reason for nonadherence is that patients accumulate their prescribed medicines with the intent of taking large quantities as a suicidal attempt. We present a case involving hoarding and overdosing on the highest quantity of mirtazapine ever reported.Case PresentationOur patient, a 44‐year‐old man suffering from depression, was admitted to our emergency department due to an overdose of 1180 mirtazapine tablets, equivalent to 17,700 mg. He exhibited a prolonged disturbance of consciousness, liver enzyme abnormalities, and serotonin syndrome. After 7 weeks in the intensive care unit, he was transferred to a psychiatric ward. Over time, his depressive symptoms improved, as did his suicidal ideation. On the 73rd day of his illness, he was discharged without any lasting effects, although he experienced retrograde amnesia.ConclusionsIn this case, ensuring the patient's medication adherence is paramount. Implementing electronic prescription technologies may offer the potential to enhance healthcare by avoiding medication duplication, preventing stockpiling of duplicated medicine, and preventing overdosing.
Poly(Sitosterol)‐Based Hydrophobic Blocks in Amphiphilic Block Copolymers for the Assembly of Hybrid Vesicles
Authors: Brodszkij Edit , Ryberg Cecilie , Lyons Joseph A. , Juhl Dennis Wilkens , Nielsen Niels Chr. , Sigalas Nikolaos I. , Lyulin Alexey V. , Pedersen Jan Skov , Städler Brigitte 
Published: June 2024

AbstractAmphiphilic block copolymer and lipids can be assembled into hybrid vesicles (HVs), which are an alternative to liposomes and polymersomes. Block copolymers that have either poly(sitostryl methacrylate) or statistical copolymers of sitosteryl methacrylate and butyl methacrylate as the hydrophobic part and a poly(carboxyethyl acrylate) hydrophilic segment are synthesized and characterized. These block copolymers assemble into small HVs with soybean L‐α‐phosphatidylcholine (soyPC), confirmed by electron microscopy and small‐angle X‐ray scattering. The membrane's hybrid nature is illustrated by fluorescence resonance energy transfer between labeled building blocks. The membrane packing, derived from spectra when using Laurdan as an environmentally sensitive fluorescent probe, is comparable between small HVs and the corresponding liposomes with molecular sitosterol, although the former show indications of transmembrane asymmetry. Giant HVs with homogenous distribution of the block copolymers and soyPC in their membranes are assembled using the electroformation method. The lateral diffusion of both building blocks is slowed down in giant HVs with higher block copolymer content, but their permeability toward (6)‐carboxy‐X‐rhodamine is higher compared to giant vesicles made of soyPC and molecular sitosterol. This fundamental effort contributes to the rapidly expanding understanding of the integration of natural membrane constituents with designed synthetic compounds to form hybrid membranes.
Enhancing P2/O3 Biphasic Cathode Performance for Sodium‐Ion Batteries: A Metaheuristic Approach to Multi‐Element Doping Design
Authors: Paidi Anil K , Park Woon Bae , Paidi Vinod K , Lee Jinhyeok , Lee Kug‐Seung , Ahn Hyungju , Avdeev Maxim , Chae Keun Hwa , Pyo Myoungho , Wu Junxiu , Sohn Kee‐Sun , Ahn Docheon , Lu Jun 
Published: June 2024

AbstractSodium‐ion batteries (SIBs) have emerged as a compelling alternative to lithium‐ion batteries (LIBs), exhibiting comparable electrochemical performance while capitalizing on the abundant availability of sodium resources. In SIBs, P2/O3 biphasic cathodes, despite their high energy, require furthur improvements in stability to meet current energy demands. This study introduces a systematic methodology that leverages the meta‐heuristically assisted NSGA‐II algorithm to optimize multi‐element doping in electrode materials, aiming to transcend conventional trial‐and‐error methods and enhance cathode capacity by the synergistic integration of P2 and O3 phases. A comprehensive phase analysis of the meta‐heuristically designed cathode material Na0.76Ni0.20Mn0.42Fe0.30Mg0.04Ti0.015Zr0.025O2 (D‐NFMO) is presented, showcasing its remarkable initial reversible capacity of 175.5 mAh g−1 and exceptional long‐term cyclic stability in sodium cells. The investigation of structural composition and the stabilizing mechanisms is performed through the integration of multiple characterization techniques. Remarkably, the irreversible phase transition of P2→OP4 in D‐NFMO is observed to be dramatically suppressed, leading to a substantial enhancement in cycling stability. The comparison with the pristine cathode (P‐NFMO) offers profound insights into the long‐term electrochemical stability of D‐NFMO, highlighting its potential as a high‐voltage cathode material utilizing abundant earth elements in SIBs. This study opens up new possibilities for future advancements in sodium‐ion battery technology.
Recent progress of Rh‐based three‐way catalysts
Authors: Jiang Ruize , Wang Huilin , Liu Li , Geng Baokang , Chu Xiang , Shi Yi , Wang Xiao , Song Shuyan , Zhang Hongjie 
Published: June 2024

AbstractThree‐way catalysts are widely used to control criterion pollutant emissions from the increasing gasoline engines. With the stringent requirements of automotive pollutant emission standards in various countries, Rh has become an irreplaceable component of three‐way catalysts due to its superior NOx elimination, high N2 selectivity, and simultaneous elimination of CO and hydrocarbons. In this review, we systematically review the recent development of Rh‐based three‐way catalysts in terms of potential supports and effective active center construction strategies. We further summarize the key role of Rh metal in the three‐way catalytic mechanism and reaction kinetics. Finally, we conclude the current challenges and future opportunities facing Rh‐based catalysts. It is believed that based on the deep understanding of Rh‐based three‐way catalysts, the design of Rh‐based catalysts with good low‐temperature catalytic performance and low cost is expected to be realized in the future.
Construction of Ultrathin BiVO4‐Au‐Cu2O Nanosheets with Multiple Charge Transfer Paths for Effective Visible‐Light‐Driven Photocatalytic Degradation of Tetracycline
Authors: Wang Chen , Mirzaei Amir , Wang Yong , Chaker Mohamed , Zhang Qingzhe , Ma Dongling 
Published: June 2024

AbstractIn this study, unique BiVO4‐Au‐Cu2O nanosheets (NSs) are well designed and multiple charge transfer paths are consequently constructed. The X‐ray photoelectron spectroscopy measurement during a light off‐on‐off cycle and redox capability tests of the photo‐generated charge carriers confirmed the formation of Z‐scheme heterojunction, which can facilitate the charge carrier separation and transfer and maintain the original strong redox potentials of the respective component in the heterojunction. The ultrathin 2D structure of the BiVO4 NSs provided sufficient surface area for the photocatalytic reaction. The local surface plasmon resonance (LSPR) effect of the electron mediator, Au NPs, enhanced the light absorption and promoted the excitation of hot electrons. The multiple charge transfer paths effectively promoted the separation and transfer of the charge carrier. The synergism of the abovementioned properties endowed the BiVO4‐Au‐Cu2O NSs with satisfactory photocatalytic activity in the degradation of tetracycline (Tc) with a removal rate of ≈80% within 30 min under visible light irradiation. The degradation products during the photocatalysis are confirmed by using ultra‐high performance liquid chromatography‐mass spectrometry and the plausible degradation pathways of Tc are consequently proposed. This work paves a strategy for developing highly efficient visible‐light‐driven photocatalysts with multiple charge transfer paths for removing organic contaminants in water.
Modern machine‐learning for binding affinity estimation of protein–ligand complexes: Progress, opportunities, and challenges
Authors: Harren Tobias , Gutermuth Torben , Grebner Christoph , Hessler Gerhard , Rarey Matthias 
Published: June 2024

AbstractStructure‐based drug design is a widely applied approach in the discovery of new lead compounds for known therapeutic targets. In most structure‐based drug design applications, the docking procedure is considered the crucial step. Here, a potential ligand is fitted into the binding site, and a scoring function assesses its binding capability. With the rise of modern machine‐learning in drug discovery, novel scoring functions using machine‐learning techniques achieved significant performance gains in virtual screening and ligand optimization tasks on retrospective data. However, real‐world applications of these methods are still limited. Missing success stories in prospective applications are one reason for this. Additionally, the fast‐evolving nature of the field makes it challenging to assess the advantages of each individual method. This review will highlight recent strides toward improved real world applicability of machine‐learning based scoring, enabling a better understanding of the potential benefits and pitfalls of these functions on a project. Furthermore, a systematic way of classifying machine‐learning based scoring that facilitates comparisons will be presented.This article is categorized under:
Data Science > Chemoinformatics
Data Science > Artificial Intelligence/Machine Learning
Software > Molecular Modeling
Align Algeria’s Energy Diversification Strategies with Energy and Climate Sustainable Development Goals
Authors: Chabouni Naïma , Barnet Charlène , Assoumou Edi , Maïzi Nadia , Selosse Sandrine 
Published: June 2024

AbstractAlgeria belongs to a set of nations with a model of socio-economic development that has created a high dependence on hydrocarbon exports, leaving them vulnerable to fluctuations in international market prices. Additionally, its economy has a structural imbalance, marked by weaknesses in agricultural and non-hydrocarbon-oriented secondary sectors. To overcome the pitfalls of hydrocarbon-centered development, we develop three alternative energy pathways designed for Algeria to explore the contributions to SDG 7 (energy) and SDG 13 (climate). These scenarios analyze Algeria’s future power system pathways and focus on the country’s national energy policies related to integrating renewable energy and developing hydrogen production. The TIMES-DZA model was used to assess technological configurations of the power and hydrogen sectors by 2070 and demonstrate these strategies’ impact on CO2 emission reduction, aligning with sustainable development goals, specifically SDG 7 and SDG 13. The results emphasize the critical role of renewable energy and hydrogen in achieving decarbonization in the power sector, advocating for a more inclusive approach that incorporates low-carbon technologies to help Algeria reach a resilient and low-carbon energy future.
Quantum entanglement on black hole horizons in string theory and holography
Authors: Dabholkar Atish , Moitra Upamanyu 
Published: June 2024

Abstract
We compute the exact one-loop partition function of ℤN orbifolds of Euclidean BTZ black hole with the aim to compute the entanglement entropy of the black hole horizon in string theory as a function of the mass and spin of the black hole and the AdS3 radius. We analyze the tachyonic contribution to the modular integrand for the partition function known for odd integers N > 1 and show that it admits an analytic continuation resulting in a finite answer for the modular integral in the physical region 0 < N ≤ 1. We discuss the flat space limit and the relevance of this computation for quantum gravity near black hole horizons and holography in relation to the thermal entropy.
G-structures for black hole near-horizon geometries
Authors: Legramandi Andrea , Macpherson Niall T. , Passias Achilleas 
Published: June 2024

Abstract
We derive necessary and sufficient conditions for warped AdS2 solutions of Type II supergravity to preserve $$ \mathcal{N} $$
N
= 1 supersymmetry, in terms of bispinors. Such solutions generically support an SU(3)-structure on their internal manifold M8, which can experience an enhancement to a G2-structure. We perform an SU(3)-structure torsion classes analysis and express the fluxes and other physical fields in terms of these, in general. We use our results to derive two new classes of AdS2 solutions. In (massive) Type IIA supergravity we derive an $$ \mathcal{N} $$
N
= 1 supersymmetric class for which M8 decomposes as a weak G2-manifold foliated over an interval and which is locally defined in terms of a degree three polynomial. In Type IIB supergravity we find a class of AdS2 × S2 × CY2 × Σ2 solutions preserving small $$ \mathcal{N} $$
N
= 4 supersymmetry, governed by a harmonic function on Σ2 and partial differential equations reminiscent of D3-D7-brane configurations.
Sicherstellung der hausärztlichen Versorgung in Deutschland – Befunde einer quantitativen Befragung von Allgemeinmediziner*innen
Authors: Wangler Julian , Jansky Michael 
Published: June 2024

Zusammenfassung
Hintergrund
Angesichts der Gefahr einer Verknappung niedergelassener Allgemeinmediziner*innen stellt sich die Frage, welche Konzepte wirksame Beiträge leisten können, um eine drohende Mangelversorgung abzuwenden. Bis dato fehlt es an Studien, die beleuchten, wie Hausärzt*innen aus ihrer beruflichen Erfahrung zu verschiedenen Ansätzen zur langfristigen Sicherstellung der Primärversorgung stehen.

Ziel der Arbeit
Ziel der Studie war es, Positionen, Haltungen und Erfahrungswerte von Hausärzt*innen mit Blick auf eine Sicherstellung der allgemeinmedizinischen Breitenversorgung zu ermitteln.

Methoden
Im Zuge einer Online-Befragung wurden zwischen Februar und Juni 2023 insgesamt 4176 Hausärzt*innen befragt. Über die deskriptive Analyse hinaus erfolgte zur Ermittlung von signifikanten Unterschieden zwischen 2 Gruppen ein t‑Test bei unabhängigen Stichproben.

Ergebnisse
42 % beobachten im Umfeld einen merklichen Schwund allgemeinärztlicher Praxen. 53 % bescheinigen der Hausarztmedizin eine sinkende Attraktivität für den ärztlichen Nachwuchs, was 3 Problembereichen zugeordnet wird: 1) Stellung der hausärztlichen Versorgung im Gesundheitswesen, 2) Voraussetzungen in Aus- und Weiterbildung, 3) Arbeitsbedingungen. Zur Sicherung der Hausarztmedizin sprechen sich die Befragten v. a. für folgende Ansatzpunkte aus: Einrichtung eines Primärarztsystems (85 %), vermehrte Förderung von Interesse und Berührungspunkten in Aus- und Weiterbildung (80 %), Stärkung multiprofessioneller ambulanter Versorgungszentren (64 %), Restrukturierung von Curricula (56 %) und Zulassungskriterien zum Medizinstudium (50 %), Reform der allgemeinmedizinischen Weiterbildung (53 %).

Diskussion
Hausärzt*innen haben eigene Vorschläge und Präferenzen, die Expertisen und Sachverständige ergänzen. Bei der Planung, Implementierung und Evaluation von Maßnahmen zur Stabilisierung der hausärztlichen Versorgung sollten Allgemeinmediziner*innen konsequenter als bislang involviert werden.
Persistent eschar-like wound healing after Q-switched 1064 nm hybrid nanosecond-picosecond laser monochromatic tattoo removal: management and evolution
Authors: Mitrofanoff Lasarus , Marini Susanna , Marini Leonardo 
Published: June 2024

Abstract
Q-switched (QS) Nd: YAG lasers are frequently utilised light sources for tattoo removal due to their precise micro-confined photo-acoustic interaction with exogenous and endogenous pigments. In order to achieve optimal results, several treatment sessions are usually required. However, the number of sessions depend on tattoo size, design complexity, pigment quantity within dermal layers, and anatomical location. Higher energy settings have often been used to reduce treatment sessions to a minimum however, this approach may lead to possible post-laser skin complications such as pathological wound healing. This case report highlights the importance of recognizing early stages of pathological wound healing encountered after high fluence 1064 nm QS laser tattoo removal. Early implementation of a proportional wound care strategy with anti-neoangiogenic and anti-inflammatory properties through the unconventional use of potent topical steroids applied in a pulsed fashion resulted in positive control of the tissue repair processes. This approach led to effective wound healing re-modulation achieving near normal skin remodelling and optimal tissue healing which in turn, permitted the completion of necessary QS tattoo removal sessions to accomplish successful and safe tattoo fading whilst maintaining overall patient satisfaction.