bluuebunny/crossref_metadata_2025 huggingface dataset:
Acid functionalized polypropylene derivatives to adsorb Mn (II) from aqueous solutions: equilibrium, kinetics, and thermodynamic modeling
Authors: Bakry Ahmed , Elmesallamy Salwa M. , Fekry Mohamed
Published: June 2023

Polypropylene wastes were used to prepare carboxylated (CPP) and sulfonated (SPP) microparticles for the adsorption of Mn (II) from aqueous media. The microparticles derivatized with nitric or sulfuric acid were characterized in terms of their physico-chemical properties. The generated functional groups on CPP (–COOH and –NO2) and SPP (–COOH, –SO3H, and C = C) enhanced the adsorption of metal ions. The adsorption behavior of Mn (II) ions on the derivatized microparticles was studied under different conditions: Solution pH, polymer dose, contact time, initial concentration of Mn (II) ions, and temperature. Application of kinetics and equilibrium models to the data revealed that the adsorption processes followed pseudo-second order reactions and the Langmuir isotherm. SPP achieved a higher maximum adsorption capacity (9.15 mg g−1) than CPPs (5.51 mg g−1). Therefore, sulfonation was considered the most efficient approach to produce a suitable surface functionality for the removal of metal ions from aqueous solutions. However, thermodynamic studies showed that all adsorption processes are spontaneous and feasible (ΔG = − 1.32 and − 1.46 kJ mol−1 at 20 °C for CPP and SPP, respectively), which ensure the possibility of employing acid-derivatized PP microparticles for metal removal.

Graphical abstract
Genotype–phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta
Authors: Lin X. , Hu J. , Zhou B. , Zhang Q. , Jiang Y. , Wang O. , Xia W. , Xing X. , Li M.
Published: June 2023

Purpose

To evaluate the genotypic and phenotypic relationship in a large cohort of OI patients and to compare the differences between eastern and western OI cohorts.

Methods

A total of 671 OI patients were included. Pathogenic mutations were identified, phenotypic information was collected, and relationships between genotypes and phenotypes were analyzed. Literature about western OI cohorts was searched, and differences were compared between eastern and western OI cohorts.

Results

A total of 560 OI patients were identified as carrying OI pathogenic mutations, and the positive detection rate of disease-causing gene mutations was 83.5%. Mutations in 15 OI candidate genes were identified, with COL1A1 (n = 308, 55%) and COL1A2 (n = 164, 29%) being the most common mutations, and SERPINF1 and WNT1 being the most common biallelic variants. Of the 414 probands, 48.8, 16.9, 29.2 and 5.1% had OI types I, III, IV and V, respectively. Peripheral fracture was the most common phenotype (96.6%), and femurs (34.7%) were most commonly affected. Vertebral compression fracture was observed in 43.5% of OI patients. Biallelic or COL1A2 mutation led to more bone deformities and poorer mobility than COL1A1 mutation (all P < 0.05). Glycine substitution of COL1A1 or COL1A2 or biallelic variants led to more severe phenotypes than haploinsufficiency of collagen type I α chains, which induced the mildest phenotypes. Although the gene mutation spectrum varied among countries, the fracture incidence was similar between eastern and western OI cohorts.

Conclusion

The findings are valuable for accurate diagnosis and treatment of OI, mechanism exploration and prognosis judgment. Genetic profiles of OI may vary among races, but the mechanism needs to be explored.
Artificial intelligence, text generation tools and ChatGPT – does digital watermarking offer a solution?
Authors: Lancaster Thomas
Published: June 2023

Text generation tools, often presented as a form of generative artificial intelligence, have the potential to pose a threat to the integrity of the educational system. They can be misused to afford students marks and qualifications that they do not deserve. The emergence of recent tools, such as ChatGPT, appear to have left the educational community unprepared, despite the fact that the computer science community has been working to develop and improve such tools for years. This paper provides an introduction to text generation tools intended for a non-specialist audience, discussing the types of assessments that students can outsource, showing the type of prompts that can be used to generate text, and illustrating one possible watermarking technique that may allow generated text to be detected. A small-scale study into watermarking suggests that this technique is feasible and show technical promise but should not be relied on as a solution to widespread use of artificial intelligence based tools by students. Alternative solutions are needed, including encouraging the educational community to work with artificial intelligence rather than against it. As such, the paper concludes by discussing seven potential areas for further exploration.
AMST2: aggregated multi-level spatial and temporal context-based transformer for robust aerial tracking
Authors: Park Hasil , Lee Injae , Jeong Dasol , Paik Joonki
Published: June 2023

Recently, many existing visual trackers have made significant progress by incorporating either spatial information from multi-level convolution layers or temporal information for tracking. However, the complementary advantages of both spatial and temporal information cannot be leveraged when these two types of information are used separately. In this paper, we present a new approach for robust visual tracking using a transformer-based model that incorporates both spatial and temporal context information at multiple levels. To integrate the refined similarity maps through multi-level spatial and temporal encoders, we propose an aggregation encoder. Consequently, the output of the proposed aggregation encoder contains useful features that integrate the global contexts of multi-level spatial and the temporal contexts. The feature we propose offers a contrasting yet complementary representation of multi-level spatial and temporal contexts. This characteristic is particularly beneficial in complex aerial scenarios, where tracking failures can occur due to occlusion, motion blur, small objects, and scale variations. Also, our tracker utilizes a light-weight network backbone, ensuring fast and effective object tracking in aerial datasets. Additionally, the proposed architecture can achieve more robust object tracking against significant variations by updating the features of the latest object while retaining the initial template information. Extensive experiments on seven challenging short-term and long-term aerial tracking benchmarks have demonstrated that the proposed tracker outperforms state-of-the-art tracking methods in terms of both real-time processing speed and performance.
A method for modelling polymer electrolyte decomposition during the Li-nucleation process in Li-metal batteries
Authors: Wu Liang-Ting , Andersson Edvin K. W. , Hahlin Maria , Mindemark Jonas , Brandell Daniel , Jiang Jyh-Chiang
Published: June 2023

Elucidating the complex degradation pathways and formed decomposition products of the electrolytes in Li-metal batteries remains challenging. So far, computational studies have been dominated by studying the reactions at inert Li-metal surfaces. In contrast, this study combines DFT and AIMD calculations to explore the Li-nucleation process for studying interfacial reactions during Li-plating by introducing Li-atoms close to the metal surface. These Li-atoms were added into the PEO polymer electrolytes in three stages to simulate the spontaneous reactions. It is found that the highly reactive Li-atoms added during the simulated nucleation contribute to PEO decomposition, and the resulting SEI components in this calculation include lithium alkoxide, ethylene, and lithium ethylene complexes. Meanwhile, the analysis of atomic charge provides a reliable guideline for XPS spectrum fitting in these complicated multicomponent systems. This work gives new insights into the Li-nucleation process, and experimental XPS data supporting this computational strategy. The AIMD/DFT approach combined with surface XPS spectra can thus help efficiently screen potential polymer materials for solid-state battery polymer electrolytes.
Rolling bearing fault diagnosis based on generalized multiscale mean permutation entropy and GWO‐LSSVM
Authors: Liu Li , Liu Zijin , Qian Xuefei
Published: June 2023

Faults in rolling bearings are usually observed through pulses in the vibration signals. However, due to the influence of complex background noise and interference from other machine components present in measurement equipment, vibration signals are typically non‐stationary and often contaminated by noise. Therefore, in order to effectively extract the random variation and non‐linear dynamic variation characteristics of vibration signals, a new method of rolling bearing fault diagnosis based on generalized multiscale mean permutation entropy (GMMPE) and grey wolf optimized least squares support vector machine (GWO‐LSSVM) is put forward in this paper. Based on the multiscale permutation entropy (MPE), the multiscale equalization is firstly used to replace the coarse grained process, and the value of mean is extended to variance to avoid the dynamic mutation of the original signal. Finally, the parameters of LSSVM are optimized by the grey wolf optimization algorithm to achieve accurate identification of fault modes. The results of simulation and experiment show that applying the proposed GMMPE to rolling bearing fault feature extraction is feasible and superior, and the method based on GMMPE and GWO‐LSSVM has better noise robustness, which can effectively achieve rolling bearing fault diagnosis.
Pension fund investments in infrastructure
Authors: Carlo Alexander , Eichholtz Piet , Kok Nils , Wijnands Ruud
Published: June 2023

Infrastructure investment is increasingly important for institutional investors. This paper focuses on pension fund allocations to infrastructure, using the CEM Benchmarking database. We document that larger pension funds, public pension funds, and pension funds with a higher allocation to other alternative assets are more likely to invest in infrastructure. Pension funds across the globe face infrastructure investment costs that are comparable, but we observe significant scale advantages in infrastructure investments, with larger pension funds exhibiting lower investment costs, and higher net returns. Importantly, infrastructure has been among the best-performing asset classes, as measured by net returns, and we document persistence in pension fund infrastructure investment performance over a one-year horizon.
Automated Tasmanian devil segmentation and devil facial tumour disease classification
Authors: Nurçin Fatih Veysel , Şentürk Niyazi , Imanov Elbrus , Thalmann Sam , Fagg Karen
Published: June 2023

Context Artificial intelligence algorithms are beneficial for automating the monitoring of threatened species. Devil facial tumour disease (DFTD) is an endemic disease threatening Australia’s Tasmanian devil. The disease is a cancer that can be transmitted from one devil to another during social interactions. Cameras and trapping techniques have been employed to monitor the spread of the disease in the wild. The use of cameras allows for more frequent monitoring of devils than does trapping, but differentiating wounds from tumours in images is challenging, and this requires time and expertise. Aim The purpose of this work is to develop a computer vision system to assist in the monitoring of DFTD spread. Method We propose a system that involves image segmentation, feature extraction, and classification steps. U-net architecture, global average pooling layer of pre-trained Resnet-18, and support vector machine (SVM) classifiers were employed for these purposes, respectively. In total, 1250 images of 961 healthy and 289 diseased (DFTD) devils were separated into training, validation, and testing sets. Results The proposed algorithm achieved 92.4% classification accuracy for the differentiation of healthy devils from those with DFTD. Conclusion The high classification accuracy means that our method can help field workers with monitoring devils. Implications The proposed approach will allow for more frequent analysis of devils while reducing the workload of field staff. Ultimately, this automation could be expanded to other species for simultaneous monitoring at shorter intervals to facilitate broadened ecological assessments.
γ-enolase (ENO2) is methylated at the Nτ position of His-190 among enolase isozymes
Authors: Kasai Fumiya , Kako Koichiro , Maruhashi Syunsuke , Uetake Toru , Yao Yuan , Daitoku Hiroaki , Fukamizu Akiyoshi
Published: June 2023

Protein methylation is mainly observed in lysine, arginine and histidine residues. Histidine methylation occurs at one of two different nitrogen atoms of the imidazole ring, producing Nτ-methylhistidine and Nπ-methylhistidine, and it has recently attracted attention with the identification of SETD3, METTL18 and METTL9 as catalytic enzymes in mammals. Although accumulating evidence had suggested the presence of more than 100 proteins containing methylated histidine residues in cells, much less information has been known regarding histidine-methylated proteins than lysine- and arginine-methylated ones, because no method has been developed to identify substrates for histidine methylation. Here, we established a method to screen novel target proteins for histidine methylation, using biochemical protein fractionation combined with the quantification of methylhistidine by LC-MS/MS. Interestingly, the differential distribution pattern of Nτ-methylated proteins was found between the brain and skeletal muscle, and identified γ-enolase where the His-190 at the Nτ position is methylated in mouse brain. Finally, in silico structural prediction and biochemical analysis showed that the His-190 in γ-enolase is involved in the intermolecular homodimeric formation and enzymatic activity. In the present study, we provide a new methodology to find histidine-methylated proteins in vivo and suggest an insight into the importance of histidine methylation.
Atrophy of bilateral nucleus accumbens in melancholic depression
Authors: Chu Zhaosong , Yuan Lijin , He Mengxin , Cheng Yuqi , Lu Yi , Xu Xiufeng , Shen Zonglin
Published: June 2023

Evidence from previous literature suggests that the nucleus accumbens (NAc), hippocampus, and amygdala play critical roles in the reward circuit. Meanwhile, it was also suggested that abnormalities in the reward circuit might be closely associated with the symptom of anhedonia of depression. However, few studies have investigated the structural alterations of the NAc, hippocampus, and amygdala in depression with anhedonia as the main clinical manifestation. Thus, the current study aimed to explore the structural changes of the subcortical regions among melancholic depression (MD) patients, especially in the NAc, hippocampus, and amygdala, to provide a theoretical basis for understanding the pathological mechanisms of MD. Seventy-two MD patients, 74 nonmelancholic depression (NMD) patients, and 81 healthy controls (HCs) matched for sex, age, and years of education were included in the study. All participants underwent T1-weighted MRI scans. Subcortical structure segmentation was performed using the FreeSurfer software. MD and NMD patients had reduced left hippocampal volume compared with HCs. Meanwhile, only MD patients had reduced bilateral NAc volumes. Moreover, correlation analyses showed correlations between left NAc volume and late insomnia and lassitude in MD patients. The reduced hippocampal volume may be related to the pathogenesis of major depressive disorder (MDD), and the reduced volume of the NAc may be the unique neural mechanism of MD. The findings of the current study suggest that future studies should investigate the different pathogenic mechanisms of different subtypes of MDD further to contribute to the development of individualized diagnostic and treatment protocols.
Investigating app icon recognition with event-related potentials
Authors: Hu Axu , Liu Shu , Yang Hong , Hu Yirong , Gu Feng
Published: June 2023

In modern society, visual symbols such as logos, icons, and letters have become essential for communication and cognition, playing a crucial role in daily life. This study focuses on app icons, a frequently encountered type of symbol, and aims to investigate the neural mechanisms involved in their recognition. Specifically, our objective is to identify the timing and location of brain activity associated with this process. We presented participants with familiar and unfamiliar app icons and asked them to perform a repetition detection task while recording the event-related potentials (ERPs) elicited by these stimuli. Statistical analysis revealed a significant difference in the ERPs between familiar and unfamiliar icons, occurring around 220 ms in the parietooccipital scalp region. The source analysis indicated that this ERP difference originated in the ventral occipitotemporal cortex, specifically the fusiform gyrus. These findings suggest that the recognition of familiar app icons results in the activation of the ventral occipitotemporal cortex approximately 220 ms after exposure. Additionally, our findings, in conjunction with previous research on visual word recognition, suggest that the lexical orthographic processing of visual words is dependent on general visual processing mechanisms that are also involved in the recognition of familiar app icons. In essence, the ventral occipitotemporal cortex likely plays a crucial role in memorizing and recognizing visual symbols and objects, including familiar visual words.
An inhibitor of claudin-5 interactions, M01, alleviates neuroinflammation and vasogenic edema after blood–spinal cord barrier dysfunction
Authors: Huang Jin , Cao Yang , Chang Sheng
Published: June 2023

Molecular docking modeling has confirmed that M01 (C30H28N4O5) acts as a potent inhibitor of claudin-5. Our prior data indicated that claudin-5 is essential to the structural integrity of the blood–spinal cord barrier (BSCB). The aim of this study was to investigate the effect of M01 on the integrity of the BSCB and its effect on neuroinflammation and vasogenic edema after blood–spinal cord barrier dysfunction in in-vitro and in-vivo models. Transwell chambers were used to construct an in-vitro model of the BSCB. Fluorescein isothiocyanate (FITC)-dextran permeability and leakage assays were performed to validate the reliability of the BSCB model. Semiquantitative analysis of inflammatory factor expression and nuclear factor-κB signaling pathway protein levels was performed using western blotting. The transendothelial electrical resistance of each group was measured, and the expression of a tight junction protein ZO-1 was determined via immunofluorescence confocal microscopy. Rat models of spinal cord injury were established by the modified Allen’s weight-drop method. Histological analysis was carried out by hematoxylin and eosin staining. Locomotor activity was evaluated with Footprint analysis and the Basso–Beattie–Bresnahan scoring system. The M01 (10 μM) reduced the release of inflammatory factors and degradation of ZO-1 and improved the integrity of the BSCB by reversing vasogenic edema and leakage. M01 may represent a new strategy for the treatment of diseases related to BSCB destruction.
Symbols and grounding in large language models
Authors: Pavlick Ellie
Published: June 2023

Large language models (LLMs) are one of the most impressive achievements of artificial intelligence in recent years. However, their relevance to the study of language more broadly remains unclear. This article considers the potential of LLMs to serve as models of language understanding in humans. While debate on this question typically centres around models’ performance on challenging language understanding tasks, this article argues that the answer depends on models’ underlying competence, and thus that the focus of the debate should be on empirical work which seeks to characterize the representations and processing algorithms that underlie model behaviour. From this perspective, the article offers counterarguments to two commonly cited reasons why LLMs cannot serve as plausible models of language in humans: their lack of symbolic structure and their lack of grounding. For each, a case is made that recent empirical trends undermine the common assumptions about LLMs, and thus that it is premature to draw conclusions about LLMs’ ability (or lack thereof) to offer insights on human language representation and understanding.

This article is part of a discussion meeting issue ‘Cognitive artificial intelligence’.
Shared and unique deficits of social functioning in multiple affected families with major psychiatric illness
Authors: Muthukumaran Moorthy , Selvaraj Sowmya , Balachander Srinivas , Nadella Ravi Kumar , Sreeraj Vanteemar S. , Mullappagari Sreenivasulu , Narayan Shruthi , Kumar Pramod , Kannampuzha Anand Jose , Alexander Alen Chandy , Dayalamurthy Pavithra , Bhattacharya Mahashweta , Susan Joseph Mino , Sheth Sweta , Puzhakkal Joan C , Thatikonda Navya Spurthi , Ithal Dhruva , Viswanath Biju , Moirangthem Sydney , Venkatasubramanian Ganesan , John John P , Thirthalli Jagadisha , Janardhan Reddy YC , Benegal Vivek , Varghese Mathew , Jain Sanjeev ,   ADBS Consortium
Published: June 2023

Background

Mental illnesses often cluster in families, and their impact on affected and unaffected members within families need to be understood from a social perspective.

Methods

Data was derived from 202 families with multiple affected individuals, identified under Accelerator program for Discovery in Brain disorders using Stem cells (ADBS) study. Affected individuals (N=259) had a diagnosis of schizophrenia, bipolar disorder, obsessive-compulsive disorder or substance use disorder. For comparison, we used the unaffected siblings from the same families (N=229), and a matched random subset of healthy control (HC) data (N=229) from the National Mental Health Survey (NMHS). We compared educational attainment, functional marital status and occupational status between the groups.

Results

The groups were matched across age, gender and place of residence. The highest educational attainment was significantly different between the groups. The affected (9.9 years) and unaffected siblings (10.4 years) had poor educational attainment compared to HC (11.6 years), (F=8.97, p<0.001). Similarly, the affected (43%) and unaffected siblings (33%) remained more often single, in contrast to HC (23%), (χ2=40.98.17, p<0.001). However, employment rates were significantly higher in the unaffected siblings, especially female siblings. Females had overall lesser educational attainment, were largely married, and were majority homemakers across the three groups when compared to males.

Discussion

Our study findings reveal the socio-demographic characteristics of affected and unaffected siblings from multiple affected families with major psychiatric illness in India. Affected and unaffected siblings had lower educational attainment and rates of marriage when compared to HC. The unaffected siblings were more likely to be in employment compared to HC. Whether the poor educational attainment and lower marriage rates in unaffected siblings is a biological marker of shared endophenotype or the effect of social burden of having an affected family member requires further systematic evaluation.
Effectiveness of mRNA-1273 bivalent (Original and Omicron BA.4/BA.5) COVID-19 vaccine in preventing hospitalizations for COVID-19, medically attended SARS-CoV-2 infections, and hospital death in the United States
Authors: Tseng Hung Fu , Ackerson Bradley K. , Sy Lina S. , Tubert Julia E. , Luo Yi , Qiu Sijia , Lee Gina S. , Bruxvoort Katia J. , Ku Jennifer H. , Florea Ana , Takhar Harpreet S. , Bathala Radha , Zhou Cindy Ke , Esposito Daina , Marks Morgan A. , Anderson Evan J. , Talarico Carla A. , Qian Lei
Published: June 2023

The bivalent (original and Omicron BA.4/BA.5) mRNA-1273 COVID-19 vaccine was authorized to offer broader protection against COVID-19. We conducted a matched cohort study to evaluate the effectiveness of the bivalent vaccine in preventing hospitalization for COVID-19 (primary outcome) and medically attended SARS-CoV-2 infection and hospital death (secondary outcomes). Compared to individuals who did not receive bivalent mRNA vaccination but received ≥2 doses of any monovalent mRNA vaccine, the relative vaccine effectiveness (rVE) against hospitalization for COVID-19 was 70.3% (95% confidence interval, 64.0%-75.4%). rVE was consistent across subgroups and not modified by time since last monovalent dose or number of monovalent doses received. Protection was durable ≥3 months after the bivalent booster. rVE against SARS-CoV-2 infection requiring emergency department/urgent care and against COVID-19 hospital death was 55.0% (50.8%-58.8%) and 82.7% (63.7%-91.7%), respectively. The mRNA-1273 bivalent booster provides additional protection against hospitalization for COVID-19, medically attended SARS-CoV-2 infection, and COVID-19 hospital death.
Partnership-focussed Principles-driven Online co-Design (P-POD): a mixed-methods evaluation of a novel online co-design process
Authors: Coulston Ms Free , Spittle Prof Alicia , McDonald Dr Cassie , Toovey Dr Rachel , Cameron Dr Kate L , Attard Kimberley , Binstock Loni , Fletcher Isaac , Delaney Adie , Murphy Tayla , Keating Caroline , Sellick Dr Kath
Published: June 2023

Purpose

Co-design involves stakeholders in designing rehabilitation interventions that impact their health (end-users) or professional lives (clinicians and researchers). Partnership-focussed Principles-driven Online co-Design (P-POD) is proposed and evaluated as an authentic approach to adapting research co-design into an online environment.

Materials and methods

A community-based participatory research approach scaffolded the co-design process and convergent mixed-methods evaluation. P-POD involved 10 stakeholders (parents, clinicians, coaches, and researchers) in eight 90-minute workshops to co-design a circus-based rehabilitation intervention to improve participation for preschool-aged children born preterm (premmies). P-POD was evaluated via anonymous surveys during workshops and semi-structured interviews upon completion of the process. Data were analysed using descriptive statistics and reflexive thematic analysis.

Results

The resulting co-designed intervention is “CirqAll: preschool circus for premmies”. Evaluation of P-POD indicated adherence to guiding principles of stakeholder involvement and co-design. Themes describe participants’ experiences of the supportive online culture, room for healthy debate, power-sharing, and multiple definitions of success.

Conclusions

P-POD appears to provide an authentic transition of research co-design into an online environment. P-POD was successfully used with stakeholders to produce a paediatric rehabilitation intervention, and benefits from the online approach align with, and extend on, those reported in the literature on in-person co-design approaches.
Carotid body dysregulation contributes to the enigma of long COVID
Authors: El-Medany Ahmed , Adams Zoe H , Blythe Hazel C , Hope Katrina A , Kendrick Adrian H , Abdala Sheikh Ana Paula , Paton Julian FR , Nightingale Angus K , Hart Emma C
Published: June 2023

The symptoms of long COVID, which include fatigue, breathlessness, dysregulated breathing, and exercise intolerance, have unknown mechanisms. These symptoms are also observed in heart failure and are partially driven by increased sensitivity of the carotid chemoreflex. As the carotid body has an abundance of ACE2 (the cell entry mechanism for SARS-CoV-2), we investigated whether carotid chemoreflex sensitivity was elevated in participants with long COVID. During cardiopulmonary exercise testing, the VE/VCO2slope (a measure of breathing efficiency) was higher in the long COVID group than in the controls, indicating excessive hyperventilation. The hypoxic ventilatory response, which measures carotid chemoreflex sensitivity, was increased in long COVID participants and correlated with the VE/VCO2slope, suggesting that excessive hyperventilation may be related to carotid body hypersensitivity. Therefore, the carotid chemoreflex is sensitized in long COVID and may explain dysregulated breathing and exercise intolerance in these participants. Tempering carotid body excitability may be a viable treatment option for long COVID patients.
Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants
Authors: Aminbeidokhti Mona , Qu Jia-Hua , Belur Shweta , Cakmak Hakan , Jaswa Eleni , Lathi Ruth B. , Sirota Marina , Snyder Michael P. , Yatsenko Svetlana A. , Rajkovic Aleksandar
Published: June 2023

Purpose

Miscarriage, due to genetically heterogeneous etiology, is a common outcome of pregnancy. Preconception genetic carrier screening (PGCS) identifies at-risk partners for newborn genetic disorders; however, PGCS panels currently lack miscarriage-related genes. Here we assessed the theoretical impact of known and candidate genes on prenatal lethality and the PGCS among diverse populations.

Methods

Human exome sequencing and mouse gene function databases were analyzed to define genes essential for human fetal survival (lethal genes), identify variants that are absent in a homozygous state in healthy human population, and to estimate carrier rates for known and candidate lethal genes.

Results

Among 138 genes, potential lethal variants are present in the general population with a frequency of 0.5% or greater. Preconception screening for these 138 genes would identify from 4.6% (Finnish population) to 39.8% (East Asian population) of couples that are at-risk for miscarriage, explaining a cause for pregnancy loss for ∼1.1-10% of conceptions affected by biallelic lethal variants.

Conclusion

This study identified a set of genes and variants potentially associated with lethality across different ethnic backgrounds. The diversity of these genes amongst the various ethnic groups highlights the importance of designing a pan-ethnic PGCS panel comprising miscarriage-related genes.
Dose response of running on blood biomarkers of wellness in the generally healthy
Authors: Nogal Bartek , Vinogradova Svetlana , Jorge Milena , Torkamani Ali , Fabian Paul , Blander Gil
Published: June 2023

Exercise is effective toward delaying or preventing chronic disease, with a large body of evidence supporting its effectiveness. However, less is known about the specific healthspan-promoting effects of exercise on blood biomarkers in the disease-free population. In this work, we examine 23,237 generally healthy individuals who self-report varying weekly running volumes and compare them to 4,428 generally healthy sedentary individuals, as well as 82 professional endurance athletes. We estimate the significance of differences among blood biomarkers for groups of increasing running levels using analysis of variance (ANOVA), adjusting for age, gender, and BMI. We attempt and add insight to our observational dataset analysis via two-sample Mendelian randomization (2S-MR) using large independent datasets. We find that self-reported running volume associates with biomarker signatures of improved wellness, with some serum markers apparently being principally modified by BMI, whereas others show a dose-effect with respect to running volume. We further detect hints of sexually dimorphic serum responses in oxygen transport and hormonal traits, and we also observe a tendency toward pronounced modifications in magnesium status in professional endurance athletes. Thus, our results further characterize blood biomarkers of exercise and metabolic health, particularly regarding dose-effect relationships, and better inform personalized advice for training and performance.
Comparison of raw accelerometry data from ActiGraph, Apple Watch, Garmin, and Fitbit using a mechanical shaker table
Authors: White James W. , Finnegan Olivia , Tindall Nick , Nelakuditi Srihari , Brown David E. , Pate Russ , Welk Gregory J. , de Zambotti Massimiliano , Ghosal Rahul , Wang Yuan , Burkart Sarah , Adams Elizabeth L. , Chandrashekhar Mvs , Armstrong Bridget , Beets Michael W. , Weaver R. Glenn
Published: June 2023

The purpose of this study was to evaluate the reliability and validity of the raw accelerometry output from research-grade and consumer wearable devices compared to accelerations produced by a mechanical shaker table. Raw accelerometry data from a total of 40 devices (i.e., n=10 ActiGraph wGT3X-BT, n=10 Apple Watch Series 7, n=10 Garmin Vivoactive 4S, and n=10 Fitbit Sense) were compared to the criterion accelerations produced by an orbital shaker table at speeds ranging from 0.6 Hz (4.4 milligravity-mg) to 3.2 Hz (124.7mg). For reliability testing, identical devices were oscillated at 0.6 and 3.2 Hz for 5 trials that lasted 2 minutes each. For validity testing, devices were oscillated for 1 trial across 7 speeds that lasted 2 minutes each. The intraclass correlation coefficient (ICC) was calculated to test inter-device reliability. Pearson product moment, Lin’s concordance correlation coefficient (CCC), absolute error, and mean bias were calculated to assess the validity between the raw estimates from the devices and the criterion metric. Estimates produced by the raw accelerometry data from Apple and ActiGraph were more reliable ICCs=0.99 and 0.97 than Garmin and Fitbit ICCs=0.88 and 0.88, respectively. Estimates from ActiGraph, Apple, and Fitbit devices exhibited excellent concordance with the criterion CCCs=0.88, 0.83, and 0.85, respectively, while estimates from Garmin exhibited moderate concordance CCC=0.59 based on the mean aggregation method. ActiGraph, Apple, and Fitbit produced similar absolute errors=16.9mg, 21.6mg, and 22.0mg, respectively, while Garmin produced higher absolute error=32.5mg compared to the criterion based on the mean aggregation method. ActiGraph produced the lowest mean bias 0.0mg (95%CI=-40.0, 41.0) based on the mean aggregation method. Raw accelerometry data collected from Apple and Fitbit are comparable to ActiGraph. However, raw accelerometry data from Garmin appears to be different. Future studies may be able to develop algorithms using device-agnostic methods for estimating physical activity from consumer wearables.
Racial differences in atrial fibrillation-related stroke: A patient-level comparative analysis of UK Biobank and Korean nationwide data
Authors: Kang Dong-Seon , Yang Pil-Sung , Kim Daehoon , Jang Eunsun , Yu Hee Tae , Kim Tae-Hoon , Sung Jung-Hoon , Pak Hui-Nam , Lee Moon-Hyoung , Lip Gregory Y.H. , Joung Boyoung
Published: June 2023

Background

This study aimed to evaluate the differences in stroke risk and the impact of atrial fibrillation (AF) among racial groups by conducting a patient-level comparative analysis using two nationwide datasets.

Methods and Results

This study utilized data from the Korean National Health Insurance Service-Health Screening and UK Biobank, which included participants who underwent health examinations between 2005 and 2012. The primary outcome was a composite of ischemic and hemorrhagic stroke. A total of 446,986 East Asians in Korea, 3904 East Asians in the UK, and 403,240 Caucasians in the UK were analyzed. East Asians in Korea had a higher comorbidity burden compared to both UK groups (p<0.001). During the follow-up period, the incidence of AF showed no significant difference between East Asians in Korea and the UK (Log-rankp=0.21), while Caucasians had a higher rate (Log-rankp<0.001). Incidence rates of the primary outcome per 1000 person-years were 3.78 (95% CI 3.72–3.85) for East Asians in Korea, 0.92 (95% CI 0.64–1.20) for East Asians in the UK, and 1.13 (95% CI 1.10–1.16) Caucasians in the UK. Although there was no difference between the two UK groups (p=0.13), the rate was significantly higher among East Asians in Korea (p<0.001). This trend consistently observed regardless of AF status or oral anticoagulant use.

Conclusions

Based on this patient-level analysis, East Asians in Korea, unlike East Asians in the UK, were more susceptible to stroke compared to Caucasians. This increased vulnerability was partly attributed to their higher comorbidity burden.

Key messages

What is new?

This large-scale study utilizes patient-level data from approximately one million individuals to evaluate stroke risk differences and the impact of atrial fibrillation (AF).

While East Asians in the UK demonstrated a similar stroke incidence to Caucasians in the UK, East Asians in Korea, who had the greatest burden of underlying cardiovascular disease such as hypertension, dyslipidemia, and heart failure, showed a stroke incidence rate more than three times that of the two UK race groups.

The impact of AF on stroke was not significantly difference between the East Asians in Korea and Caucasians in the UK.

What are the clinical implications?

In contrast to East Asians in Korea, East Asians in the UK demonstrated a stroke risk similar to that of Caucasians, underscoring the imperative need for rigorous management of cardiovascular risk factors and lifestyle modification in order to prevent stroke.

Future studies should investigate how other risk factors, such as extreme weather, dietary habits, and genetic factors, contribute to the differences in long-term prognosis between East Asians and other racial groups.
Myocarditis in a pediatric emergency department: a 10-year, single-center retrospective study
Authors: Jung Doyoung
Published: June 2023

Background

Pediatric myocarditis is caused by myocardial inflammation that can manifest a wide range of clinical courses, from mild symptoms to death, in the pediatric emergency department. This study aimed to identify risk factors or parameters to predict the clinical course of pediatric myocarditis.

Methods

This retrospective study included 46 patients who visited the pediatric emergency room at Severance Hospital. The patients were classified into spontaneous recovery (n=42) and extracorporeal membrane oxygenation (ECMO, n=4) groups, and their baseline characteristics, laboratory studies, and echocardiography findings were compared.

Results

Factors showing significant differences between the two groups included increased levels of inflammatory markers (delta neutrophil index, erythrocyte sedimentation rate, and C-reactive protein), aspartate aminotransferase (AST), and cardiac enzymes (creatine kinase-MB, N-terminal pro-B-type natriuretic peptide, and troponin-T) (p<0.001).

Conclusions

This study identified risk factors for fulminant myocarditis in pediatric patients with myocarditis who visited the emergency room, including increased levels of inflammatory markers, AST, and cardiac enzymes. Close monitoring and preparation for ECMO may be necessary if these risk factors are observed. These findings will be helpful for the early diagnosis and appropriate treatment of pediatric myocarditis.
Risk Factors for Intracranial Hemorrhage Transformation and Poor Prognosis after Endovascular Treatment for Acute Large Vessel Occlusion Stroke
Authors: Ma Lei , Wang Dongfeng , Li Zhenqiang , Ye Gengfan , Chen Pandi , Chen Maosong
Published: June 2023

Purpose

The purpose of this study was to explore the risk factors for hemorrhagic transformation after endovascular treatment for acute large-vessel occlusion stroke and the risk factors for poor prognosis after endovascular treatment.

Methods

A total of 132 cases of patients with acute large vessel occlusion stroke who underwent endovascular treatment in the Ningbo Medical Center Lihuili Hospital 1, 2021 to December 31, 2022 were included. According to whether there was intracranial hemorrhage within 72 hours after surgery, the patients were divided into hemorrhage transformation(HT) group and non-hemorrhage(no HT) group. The two groups were compared in terms of gender, age, history of hypertension, history of atrial fibrillation, and other factors to determine whether there were statistical differences.

Results

Among the 132 included patients, 30 cases had hemorrhage transformation and 102 cases were in the non-hemorrhage group. Multivariate logistic regression analysis showed that the ASPECTS score on admission and the NLR within 24 hours after surgery were independent risk factors for hemorrhage transformation. The rate of good prognosis (MRS score 0-2) at discharge was 31.2%, and multivariate logistic regression analysis showed that advanced age, history of hypertension, and NIHSS score were independent risk factors for poor prognosis.

Conclusion

The NLR within 24 hours after endovascular treatment is an independent risk factor for hemorrhage transformation in acute large vessel occlusion stroke and can be used as one of the predictive indicators. Advanced age, history of hypertension, and NIHSS score are independent risk factors for poor prognosis after endovascular treatment for acute large vessel occlusion stroke.
Device-Measured Physical Activity in 3,511 Individuals with Knee or Hip Arthroplasty
Authors: Small Scott R. , Khalid Sara , Price Andrew J. , Doherty Aiden
Published: June 2023

Background

Physical activity is a key contributor to overall health, with low activity levels associated with a higher risk of all-cause mortality. Hip and knee arthroplasty aims to reduce joint pain, increasing functional mobility and the ability to be more physically active. However, the degree to which arthroplasty is associated with higher physical activity is unclear. The current study sought to assess the association of hip and knee arthroplasty with objectively measured physical activity.

Methods

This cross-sectional study analysed seven days of wrist-worn accelerometer data collected in 2013-2016 from UK Biobank participants (aged 43-78), with a median 6.8 years of follow-up. From a cohort of 94,794 participants with valid accelerometer wear time and complete self-reported data, electronic health records were used to identify 3,511 participants having undergone primary or revision hip or knee arthroplasty and 68,450 non-arthritic controls. Multivariable linear regression was performed to assess activity in terms of steps, cadence, acceleration, and behavioural classification between end-stage arthritic and >12 month postoperative cohorts, controlling for demographic and behavioural confounders.

Findings

Any combination of one or more hip or knee arthroplasties was associated with participants taking 694 more daily steps [95% CI: 346, 1,041] (p<0.001) than participants with end-stage osteoarthritis, though these participants took 542 fewer daily steps [95% CI: 403, 680] (p<0.001) than non-arthritic controls. Unilateral primary hip and knee arthroplasty were associated with 858 [95% CI: 255, 1,461] (p=0.005) and 879 [95% CI: 209, 1,549] (p=0.010) more steps than end-stage osteoarthritic participants, respectively. Postoperative hip arthroplasty participants demonstrated levels of moderate-to-vigorous physical activity and cadence equivalent to non-arthritic controls.

Interpretation

Hip and knee arthroplasty are associated with higher levels of physical activity compared to participants with end-stage arthritis. Hip arthroplasty patients, in particular, approach equivalence with non-arthritic peers in peak cadence and time spent in moderate-to-vigorous activity. Accelerometer-based activity monitoring of arthroplasty patients may provide an objective means for the assessment of postoperative recovery and interventional effectiveness.
Differing methodological quality but identical recommendations? - Assessment of methodological quality and content analysis of Clinical Practice Guidelines and Food-based Dietary Guidelines in early childhood allergy prevention
Authors: Sieferle Katharina , Bitzer Eva Maria
Published: June 2023

Objective

Recommendations on early childhood allergy prevention (ECAP) are found in clinical practice guidelines (CPG) and food-based dietary guidelines (FBDG). This study aims to compare the methodological quality and the content of recommendations in CPGs and FBDGs for ECAP.

Study Design and Setting

We assessed methodological quality of a sample of 36 guidelines (23 CPGs, 13 FBDGs), retrieved through extensive searching, with the Appraisal of Guidelines for Research and Evaluation tool (AGREE) II. On a subset of recommendations, we performed an in-depth analysis by type of intervention for direction of and strength of recommendation and level of evidence. Descriptive analysis was conducted with SPSS 27.

Results

CPGs scored higher than FBDGs in most AGREE domains (3, 4, 5 and 6). The 36 guidelines contain 280 recommendations on ECAP, with 68 addressing the introduction of complementary foods and allergenic foods. We found only slight differences between those recommendations in CPGs and FBDGs.

Conclusion

FBDGs on ECAP are of lower quality than CPGs. This does not affect their recommendations on the introduction of complementary foods and allergenic foods but may compromise their trustworthiness.

What is new?

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Methodological quality of guidelines on ECAP is low, especially in FBDGs

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Recommendations on introduction of complementary feeding rarely vary

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Recommendations on introduction of potential allergenic foods show slight variation

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More attention is needed on the slight differences and the underlying evidence
Association between food insecurity, ethnicity, and mental health in the UK: An analysis of the Family Resource Survey
Authors: Power Maddy , Yang Tiffany , Pybus Katie
Published: June 2023

Background

Food insecurity is associated with mental ill-health, but there is limited evidence on ethnicity despite indication that minority ethnic groups are at risk of food insecurity and worse mental health. We assess the relationship between UK food insecurity, ethnicity and mental health using a representative household survey.

Methods

Data from the 2019/20 Family Resource Survey provided information on ethnicity, subjective rating of anxiety (10-point scale), presence of long-standing illnesses affecting mental health, and food security assessed using 10-item Adult Food Security module. Linear and logistic regression was used to assess the relationship between food security status and degree of anxiety and presence of long-standing illness affecting mental health. Analyses were adjusted for covariates and stratified by ethnicity.

Results

19,210 participants were included. The majority were food secure (87%), identified as White (90.7%), reported a median and interquartile range of anxiety of 2 (0-5), and 22% reported a long-standing illness affecting mental health. Food insecurity was associated with increased levels of anxiety (adjusted β=1.51, 95% CI:(1.34, 1.68)) among all ethnic groups, with greatest increase among people identifying as Black/African/Caribbean/Black British (β=1.75 (1.05, 2.44)). Food insecurity was associated with longstanding illness affecting mental health (adjusted OR 2.01 (1.70, 2.39)) among all ethnic groups; Asian/Asian British respondents reported the highest odds of having a longstanding illness affecting their mental health (OR=2.63 (1.05, 6.56)).

Conclusion

The impact of UK food insecurity on mental health affects all ethnic groups but is worse for ethnic minorities, necessitating a population-wide response to food insecurity alongside targeted interventions addressing ethnic inequalities.