bluuebunny/crossref_metadata_2025_split huggingface dataset:
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
Authors: Al‐Thihli Khalid , Al Hashmi Nadia , Al Balushi Aaisha , Al‐Habsi Asila , Al‐Ajmi Eiman , Al‐Jasmi Fatma , Al‐Murshedi Fathiya 
Published: May 2024

AbstractCarbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA‐VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.(Trp20*) in CA5A. The reported patients show significant intrafamilial and interfamilial variability, and display atypical clinical features. Two adult patients were asymptomatic, 7/18 patients had recurrent hyperammonemia, 7/18 patients developed variable degree of developmental delay, 9/11 patients had hyperCKemia, and 7/18 patients had failure to thrive. Microcephaly was seen in three patients and one patient developed a metabolic stroke. The same variant had been reported already in a single South Asian patient presenting with neonatal hyperammonemic encephalopathy and subsequent development of seizures and developmental delay. This report highlights the limitations of current understanding of the pathomechanisms involved in this disorder, and calls for further evaluation of the possible role of genetic modifiers in this condition.
Tradeoffs between bite force and gape in Eulemur and Varecia
Authors: Laird Myra F. , Polvadore Taylor A. , Hirschkorn Gabrielle A. , McKinney Julie C. , Ross Callum F. , Taylor Andrea B. , Terhune Claire E. , Iriarte‐Diaz Jose 
Published: May 2024

AbstractIn 1974, Sue Herring described the relationship between two important performance variables in the feeding system, bite force and gape. These variables are inversely related, such that, without specific muscular adaptations, most animals cannot produce high bite forces at large gapes for a given sized muscle. Despite the importance of these variables for feeding biomechanics and functional ecology, the paucity of in vivo bite force data in primates has led to bite forces largely being estimated through ex vivo methods. Here, we quantify and compare in vivo bite forces and gapes with output from simulated musculoskeletal models in two craniofacially distinct strepsirrhines: Eulemur, which has a shorter jaw and slower chewing cycle durations relative to jaw length and body mass compared to Varecia. Bite forces were collected across a range of linear gapes from 16 adult lemurs (suborder Strepsirrhini) at the Duke Lemur Center in Durham, North Carolina representing three species: Eulemur flavifrons (n = 6; 3F, 3M), Varecia variegata (n = 5; 3F, 2M), and Varecia rubra (n = 5; 5F). Maximum linear and angular gapes were significantly higher for Varecia compared to Eulemur (p = .01) but there were no significant differences in recorded maximum in vivo bite forces (p = .88). Simulated muscle models using architectural data for these taxa suggest this approach is an accurate method of estimating bite force‐gape tradeoffs in addition to variables such as fiber length, fiber operating range, and gapes associated with maximum force. Our in vivo and modeling data suggest Varecia has reduced bite force capacities in favor of absolutely wider gapes compared to Eulemur in relation to their longer jaws. Importantly, our comparisons validate the simulated muscle approach for estimating bite force as a function of gape in extant and fossil primates.
Photo‐Deactivation Strategy for Switchable ATRP with the Assistance of Molecular Switches
Authors: Zhang Weidong , Chen Zhuan , Zhang Zhengbiao 
Published: May 2024

AbstractLight irradiation is an external stimulus, rapidly developed in switchable atom transfer radical polymerization (ATRP) via photo‐activation methods in recent years. Herein, a photo‐deactivation strategy is introduced to regulate ATRP with the assistance of photoswitchable hexaarylbiimidozole (HABI). Under visible light irradiation and in the presence of HABI, ATRP is greatly decelerated or quenched depending on the concentration of HABI. Interestingly, with visible light off, ATRP can proceed smoothly and follow a first‐order kinetics. Moreover, photo‐switchable ATRP alternatively with light off and on is demonstrated. Besides, the mechanism of photo‐deactivation ATRP involving radical quenching is proposed in the presence of HABI.
Detection of α‐Synuclein in Oral Mucosa by Seed Amplification Assay in Synucleinopathies and Isolated REM Sleep Behavior Disorder
Authors: Zheng Yuanchu , Yu Zhenwei , Cai Huihui , Kou Wenyi , Yang Chen , Li Siming , Zhang Ning , Feng Tao 
Published: May 2024

AbstractObjectiveEvidence of abnormal α‐synuclein (α‐Syn) deposition in the brain is required for definitive diagnosis of synucleinopathies, which remains challenging. The seed amplification assay (SAA) is an innovative technique that can detect the seeding activity of misfolded α‐Syn, enabling the amplification and detection of minute quantities of pathogenic α‐Syn aggregates. This study aimed to evaluate oral mucosa α‐Syn SAA as possible diagnostic and prodromal biomarkers for synucleinopathies.MethodsA total of 107 Parkinson's disease (PD) patients, 99 multiple system atrophy (MSA) patients, 33 patients with isolated rapid eye movement sleep behavior disorder (iRBD) and 103 healthy controls (HC) were included. The SAA was applied to detect the seeding activity of α‐Syn from oral mucosa. A combination of morphological, biochemical, and biophysical methods was also used to analyze the fibrils generated from the oral mucosa α‐Syn SAA.ResultsStructured illumination microscopy images revealed the increased α‐Syn species in oral mucosa of PD, MSA, and iRBD patients than in HCs. Oral mucosa α‐Syn SAA distinguished patients with PD from HC with 67.3% sensitivity and 90.3% specificity. Oral mucosa was α‐Syn SAA positive in 53.5% MSA patients and 63.6% iRBD patients. Furthermore, the α‐Syn fibrils generated from MSA demonstrated greater resistance to proteinase K digestion and exhibited stronger cytotoxicity compared to those from PD patients.ConclusionOral mucosa α‐Syn seeding activity may serve as novel non‐invasive diagnostic and prodromal biomarkers for synucleinopathies. The α‐Syn aggregates amplified from the oral mucosa of PD and MSA exhibited distinct biochemical and biophysical properties. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Gut instinct: Navigating the landscape of parenteral support in short bowel syndrome
Authors: Bering Jamie , Tarleton Sherry , DiBaise John K. 
Published: May 2024

AbstractDepending on the remaining bowel anatomy and the degree of bowel adaptation, patients with short bowel syndrome (SBS) may require parenteral nutrition (PN) and/or intravenous fluid support, sometimes temporarily and sometimes permanently. Although the use of parenteral support in SBS is often lifesaving, it is not without its limitations. Herein, we undertake a focused review of several issues related to use of parenteral support in patients with SBS, including initiation of parenteral support, considerations when formulating PN, select complications, short‐term and long‐term nutrition monitoring, and weaning strategies.
Evaluation of the effect of Modafinil in the improvement of the level of consciousness in patients with COVID‐19 encephalopathy: A randomized controlled trial
Authors: Talebi Kiasari Fatemeh , Naghshbandi Mobin , Emamikhah Maziar , Moradi Moghaddam Omid , Niakan Lahiji Mohammad , Rohani Mohammad , Yazdi Narges , Movahedi Hamidreza , Amanollahi Alireza , Irandoost Pardis , Ghafoury Roya 
Published: May 2024

AbstractAimCOVID‐19 can lead to encephalopathy and loss of consciousness. This double‐blinded randomized clinical trial conducted in Tehran, Iran, aimed to assess the potential effectiveness of modafinil in patients with COVID‐19‐related encephalopathy.MethodsNineteen non‐intubated COVID‐19 patients with encephalopathy were randomized into two groups: a treatment group receiving crushed modafinil tablets and a placebo group receiving starch powder. Modafinil was administered at a dose of 100 mg every 2 h, reaching a peak dosage of 400 mg. The level of consciousness was assessed using the Glasgow Coma Score (GCS) at multiple time points on the day of medication administration. The trial was registered under IRCT20170903036041N3 on 23/5/2021.ResultsThe average age in the modafinil and placebo groups was 75.33 and 70 years, respectively. No significant differences were observed between the two groups in terms of chronic conditions, clinical symptoms, or laboratory data. GCS scores were similar between the groups at baseline (p‐value = 0.699). After four doses of modafinil, GCS scores were slightly higher in the treatment group, but this difference was not statistically significant (p‐value = 0.581). GCS scores after each round of drug administration didn't significantly differ between the treatment and placebo groups (p‐value = 0.908).ConclusionModafinil exhibited a slight improvement in the level of consciousness among COVID‐19 patients with encephalopathy, although this improvement did not reach statistical significance when compared to the control group. Further research with larger sample sizes and longer treatment durations is recommended to explore modafinil's potential benefits in managing altered consciousness in COVID‐19 patients.
Societal drivers for the integration of hydrogeomorphology and human benefits in river restoration projects
Authors: Gariépy‐Girouard Étienne , Buffin‐Bélanger Thomas , Biron Pascale M. 
Published: May 2024

AbstractIntegrating hydrogeomorphological (HGM) principles into the restoration of degraded rivers can achieve sustainable results and provide various human benefits. HGM principles mainly involve understanding the context and processes that shape a fluvial system before any intervention, in order to support its dynamism and to align with its potential functioning and uses. Despite recent management approaches inspired by HGM principles, most restoration projects carried out in Quebec (Canada) are not process‐based and target specific one‐dimensional objectives. Although there is an overall lack of post‐project monitoring, several projects appear to have failed or had mixed success. This research aims to shed light on the diversity of societal drivers behind river restoration projects and to examine how they influence the integration of HGM principles and human benefits. Four restoration projects were characterized through participant observation and interviews with the organizations running them. Representatives of two ministries involved in river restoration and management were also interviewed. The results show that projects were mainly shaped by public acceptance disregarding HGM principles, which can lead to poorly‐informed action. Project funding and stakeholders' expertise have also challenged project implementation and played a key role in defining their objectives. The addition of these components improve the current analytical frameworks for identifying river restoration objectives. Depending on specific sociocultural, political and legislative contexts, funding programs and stakeholders' expertise may either facilitate or restrict the integration of HGM principles and human benefits in the projects. Recognizing these key drivers reframes river restoration as a fundamentally social activity and enlightens how they could impel innovative approaches towards more sustainable results.
Adsorption Properties of the Alkalized Accordion‐Like Ti3CN MXene for Pb(II) Ion
Authors: Qian XuKun , Zhao ZeFeng , Zhang RuiHua , Yu ChangBai 
Published: May 2024

AbstractThe presence of poisonous Pb(II) ions in water resources has raised global health concerns. Herein, the adsorption performance of accordion‐like Ti3CN MXene for Pb(II) ions was investigated for the first time. Batch experiments were carried out by varying modifications, pH values, initial Pb(II) concentrations, adsorption time and temperatures. The results prove that the alkalized‐Ti3CN shows enhanced adsorption performance. Although the temperature effect is insignificant, the Pb(II) adsorption is strongly pH‐dependent. The maximum Pb(II) adsorption capacity of alkalized −Ti3CN is about 2.5 times higher than that of activated carbon. The adsorption ratio of Pb(II) is up to 96.6 %. The adsorption capacity increases with increasing the initial concentration of Pb(II). The alkalized‐Ti3CN adsorbs Pb(II) very quickly and the adsorption equilibrium is nearly achieved within 70 minutes. The adsorption follows the quasi‐second‐order kinetic model as well as the Langmuir model, and is mainly controlled by chemical adsorption. It is preliminarily concluded that Pb(II) replaces Na(I) of the −ONa functional groups on the alkalized‐Ti3CN surfaces. This study proves the alkalized‐Ti3CN MXene has potential application for the purification treatment of wastewater contaminated with Pb(II) ions.
Electrochemical and Theoretical Modelled Reduction of β‐Diketone Inspired Chalcones
Authors: Izuchukwu Ugwu David , Conradie Jeanet 
Published: May 2024

AbstractThe growing interest in synthesizing electrochemically active organic ligands stems from extensive reports highlighting the applications of redox‐active organic molecules. These molecules play a crucial role in capturing and converting CO2 into valuable organic compounds, including carbonates used as solvents in lithium batteries. In this study, we present an electrochemical investigation of two chalcone derivatives, referred to as (1) and (2). We explored the influence of different solvent systems, specifically acetonitrile and dimethyl sulfoxide, on the reduction potential of these chalcones. The reported chalcone derivatives were characterized using various analytical techniques, including UV/Visible spectroscopy, Fourier Transform Infrared spectroscopy, Proton and Carbon‐13 nuclear magnetic resonance, as well as mass spectrometry. The characterization of the reported chalcones, exhibiting properties of both β‐diketones and 2‐hydroxyphenones, is underscored by a density functional theory (DFT) study of chalcones (1) and (2). This research establishes a correlation between the energies calculated through DFT and the experimental reduction potentials of chalcones (1) and (2), in comparing them with a series of β‐diketones and 2‐hydroxyphenones.
Ultrasound evaluation of stiffness and vascularity of renal parenchymal damage secondary to hydronephrosis in pediatric patients using shear wave elastography and superb microvascular imaging
Authors: Günay Burak , Solak Serdar , Ustabaşıoğlu Fethi Emre , Kula Osman , Karabulut Derya , Tunçbilek Nermin 
Published: May 2024

AbstractAimsThe purpose of this study is to assess the diagnostic value of SWE (shear wave elastography) and renal parenchymal elasticity and microvascularization with the SMI (super microvascular imaging) technique in diagnosing and predicting the progression of renal parenchymal damage in pediatric patients with hydronephrosis.Patients and MethodsA total of 45 patients were included in the prospective study. To evaluate parenchymal changes, SWE and SMI‐Vacularity Index (VI) measurements were performed in various sections of the affected and normal kidneys. The affected and control renal pelvises' anteroposterior (AP) diameters were also measured.ResultsThe average SWE values were measured as 16.62 kPa for the affected kidneys, whereas the control kidneys showed an average SWE value of 12.70 kPa, indicating a statistically significant difference (p < .01). Furthermore, in the affected kidneys, the average SMI‐VI value was measured as 5.92, whereas the control kidneys exhibited a higher average SMI‐VI value of 6.64, showing a statistically significant difference (p < .01). A reverse correlation was found between renal pelvis AP diameter and SMI‐VI values, while a positive correlation existed between renal pelvis AP diameter and SWE values.ConclusionsWe believe that SWE and SMI may be useful for diagnosing and predicting the progression of renal parenchymal damage in pediatric hydronephrotic patients.
Building pose detection for the characterization of reinforced concrete buildings
Authors: Iturburu Lissette , Liu Xiaoyu , Zhang Xin , Wogen Benjamin E. , Villamizar Juan Nicolas , Dyke Shirley J. , Ramirez Julio , Choi Jongseong Brad , Valencia Gianella , Alcocer Sergio M. 
Published: May 2024

SummaryThe automated identification of building characteristics for seismic vulnerability remains a challenge for governments due to the high number of buildings in cities. The diverse architectural styles of these buildings complicate the automated identification of building information (e.g., number of stories, structural system, and material type). Deep learning techniques lose accuracy as they generalize information, while the visual contents of a building exhibit a considerable range and diversity. This study leverages the pose detection technique to tackle such issues by focusing on a common construction style: reinforced concrete buildings representing columns, beams, or floors on the façade. With an aim to enable the assessment of seismic vulnerability, the technique developed herein is conceived for buildings with up to six stories that are more likely to be moment‐frame buildings. The AI‐enabled proposed framework starts with collecting building images and categorizing those containing this specific building type. A bounding box detector is then used to isolate building facades, for the subsequent identification of the structural frame with the High‐Resolution Network (HR‐Net). For demonstration, we illustrate this technique by identifying the structural frame on concrete buildings with a sample dataset developed based on buildings found in Mexico City in a pre‐earthquake event state.
A revised tribal classification of Papaveraceae (poppy family) based on molecular and morphological data
Authors: Peng Huan‐Wen , Xiang Kun‐Li , Lian Lian , Liu Bing , Erst Andrey S. , Gao Tian‐Gang , Ortiz Rosa Del C. , Jabbour Florian , Chen Zhi‐Duan , Wang Wei 
Published: May 2024

AbstractPapaveraceae, commonly known as the poppy family, contains many species with horticultural and/or pharmaceutical importance and has been the subject of various molecular studies. However, a widely accepted tribal classification for Papaveraceae remains lacking. In this study, we used a sampling covering all 48 of the currently recognized genera of Papaveraceae. Our study is to employ broad morphological data in combination with sequence data from two nuclear and seven plastid DNA regions to reconstruct phylogenetic relationships within the family. Our analyses indicate that Pteridophylloideae is sister to the clade containing Hypecooideae and Fumarioideae, and these three lineages are in turn sister to Papaveroideae. The alternative topologies constraining Pteridophylloideae as sister to the other poppy species, to Papaveroideae or to Hypecooideae, as recovered in previous studies, are all rejected. Fumarioideae contains nine main clades, and Fumarieae is nested in traditional Corydaleae. Within Papaveroideae, three main clades are recovered and Platystemoneae is embedded within traditional Papavereae. Both topologies constraining traditional Corydaleae or Papavereae as monophyletic are significantly rejected. Within this phylogenetic framework, the evolution of selected characters is inferred and diagnostic morphological characters at different taxonomic levels are identified and discussed. Based on morphological and molecular evidence, a new tribal classification of Papaveraceae is presented, in which 4 subfamilies, 14 tribes (including 7 newly described tribes), and 43 genera are recognized.
Influence of administration timing of San‐Huang‐Xie‐Xin‐Tang treatment on attenuating Salmonella enterica serovar Typhimurium infection
Authors: Chang Chiung‐Hung , Wang Shu‐Chiu , Lee Chia‐Ying , Su Chiu‐Hsian , Lai Yen‐Ju , Lin Wei‐De , Hsu Yuan‐Man 
Published: May 2024

AbstractSalmonella infections are a serious global health concern, particularly in developing countries, and are further exacerbated by the emergence of antibiotic resistance. San‐Huang‐Xie‐Xin‐Tang (SHXXT), a traditional herbal medicine with potent anti‐inflammatory properties, has recently gained attention as an alternative treatment. Our study emphasizes on the importance of precise timing in accordance with traditional Chinese medicine principles. A mouse infection model was established while different administration times of SHXXT were recorded for the body weight, clinical scores, bacterial counts in blood, and organs. Additionally, cytokine levels, fatty acids, and amino acids in the serum were also monitored. We found that administering SHXXT 1 day after Salmonella enterica subsp. enterica serovar Typhimurium (S. Typhimurium) infection (T1 group) leads to positive outcomes. This includes restoration of body weight, improved clinical scores, and reduced bacterial counts in blood and vital organs. Interferon‐gamma levels remained consistently high across all treatment groups 6 days post‐infection. However, the T1 group showed exclusive suppression of serum levels of tumor necrosis factor‐alpha (TNF‐α) and interleukin‐1 beta (IL‐1β). The timing of administration significantly influenced serum fatty acid concentrations, countering Salmonella‐induced disruptions, aligning with TNF‐α and IL‐1β levels. SHXXT had also restored amino acid profiles disrupted by the infection, with notable effects when administered at the correct timing. Our research highlights SHXXT's potential in treating S. Typhimurium infection, emphasizing the importance of precise timing in line with traditional Chinese medicine principles for effective treatment at different disease stages.
Construction of [P4442]2[IDA]/Zirconium Metal‐Organic Framework (UiO‐66) for Curing with Epoxy Resin
Authors: Zhang Zhiwei , Ma Yilin , Liu Encheng , Cheng Junjie , Chen Fengfeng , Ling Bin , Di Ningyu , Gao Junkuo 
Published: May 2024

AbstractCuring agents for epoxy resin (EP) are one of the most important branches in the polymer materials field due to their enormous potential in many fields, but constructing them in a well‐controlled curing temperature remains challenging. Herein, a novel curing agent is constructed by the zirconium metal‐organic framework (UiO‐66) and [P4442]2[IDA] through an impregnation method. [P4442]2[IDA]@UiO‐66 is utilized as a functional nanofiller and curing agent to construct the [P4442]2[IDA]@UiO‐66/EP nanocomposites. The chemical structures of [P4442]2[IDA]@UiO‐66 were investigated by XRD, SEM, DSC, and TG characterizations. The various [P4442]2[IDA]@UiO‐66 with different loading amounts of [P4442]2[IDA] were used to investigate the curing behaviors of the EP‐51. The DSC results confirm that the curing temperature of the [P4442]2[IDA]@UiO‐66/EP is higher than that of [P4442]2[IDA]/EP. In addition, the kinetic parameters and the activation energy of the curing reaction were acquired according to the fitting of Kissinger equation and Ozawa equation. The drying time of [P4442]2[IDA]@UiO‐66/EP system at 40 °C was enhanced 17 times compare to that of [P4442]2[IDA]/EP system. This study opens new avenues for the rational design of EP nanocomposites by employing ionic liquids@MOFs composite materials as curing agent for wide engineering applications.