bluuebunny/crossref_metadata_2025_split huggingface dataset:
Understanding the terrain
Authors: Humphreys Keith 
Published: February 2023

Abstract
This chapter introduces the concept of addiction. It clarifies that not all drugs are considered addictive. However, addictive drugs produce short-term and intense effects such as increased happiness and lessened pain. The chapter lists swallowing, snorting, inhalation, and injection as the common methods of consuming drugs, while ethanol, nicotine, and cannabis are regarded as the most widely consumed addictive drugs. Meanwhile, tolerance refers to a drug losing its potency to induce an effect at a familiar dose. As a person regularly uses an addictive drug, they could shift between seeking positive to negative reinforcements. The chapter then highlights the presence of harm in addiction.
179 WHAT MATTERS TO THE FRAIL OLDER PERSON CHANGES DURING COVID-19 AND SHOULD INFORM PATIENT CENTRED CHANGE
Authors: Murphy R , Sayers K , Ryan S , Maher J , Pillay I 
Published: February 2023

Abstract

Background
‘What Matters to You’(WMTY) is a routine question in the comprehensive geriatric assessment (CGA) of the frail older person. The aim was to categorise WMTY and investigate changes during COVID-19.

Methods
WMTY, clinical frailty score (CFS), age, gender, vision and hearing impairment, malnutrition risk, modified Barthel Index (mBI), living alone status, 4AT and dementia screening results were prospectively entered onto MS Excel. Answers were retrospectively categorised and compared, pre-COVID-19 (April to June 2019) and during COVID-19 (April to June 2020). Descriptive statistics and MS Excel T-test were used for data analysis.

Results
The mean CFS (5), age (82 years), male: female ratio (1:1.3), prevalence of visual and hearing impairment (20–30%) and malnutrition risk were similar (23%) in both groups mBI was non-significantly reduced by a 1 point average during COVID-19.
Less patients lived alone during COVID-19 (p = 0.05). Positive delirium screen doubled (12% vs 26%) during COVID-19. Positive dementia screen doubled (10% vs 20%) during COVID-19.
Themes in decreasing order were family, health, home, functional independence, pets, discharge plan, religion, work, social activities and other pre-COVID-19. Family and health accounted for 49% of responses.
During COVID-19, the order changed to health, family and home, functional independence, work and discharge planning, pets, religion and social activities.
There was a 50% increase in functional independence as a response, a 40% increase in home and a 58% decrease in family as a response.

Conclusion
Cognitive vulnerability doubled during COVID-19. Nine themes were identified. WMTY themes shifted during COVID-19. Health become the most frequent response. Family became a less frequent response with less people living alone. Functional independence was more frequent reflecting the need for self-reliance during COVID-19. Home, where all COVID-19 life was lived, was expressed as WMTY by a greater number of respondents. Promotion of functional independence has been identified as a key driver for practice change.
Jekyll and Hyde: Day–night personality differences in the water scorpionNepa hoffmanni
Authors: Hyun Hyoseul , Han Chang S 
Published: February 2023

AbstractDifferences between daytime and night-time behaviors are common in insects due to potential trade-offs between predator avoidance and foraging. While diel effects on average behavior are well documented, it remains unclear whether individuals differ in how they adjust their behavior between daytime and night-time. In this study, we focused on two light dependent behaviors, activity and tonic immobility, in the water scorpion (Nepa hoffmanni). Each individual was assayed for each behavior six times during the day and six times at night. Then, we explored diel differences in (1) average behavior, (2) among-individual variation in behavior, (3) individual rank order of behavioral expression, and (4) the sign and magnitude of behavioral syndromes (among-individual correlations between behaviors). At night, N. hoffmanni was more active and exhibited shorter periods of tonic immobility. Among-individual variation in activity was greater at night than during the day, but among-individual variation in tonic immobility did not differ between day and night. Individuals also differed in their diel plasticity in activity but not in tonic immobility. Thus, both (1) day–night differences in among-individual variation and (2) individual variation in diel plasticity contributed to the light-dependent sign of the behavioral syndromes. Our findings highlight the need for individual-level studies to fully elucidate diel influences on animal behavior. We suggest that day–night differences in behavioral syndromes as well as in selection might be key to behavioral evolution, especially in animals active during both day and night.
scSTAR reveals hidden heterogeneity with a real-virtual cell pair structure across conditions in single-cell RNA sequencing data
Authors: Hao Jie , Zou Jiawei , Zhang Jiaqiang , Chen Ke , Wu Duojiao , Cao Wei , Shang Guoguo , Yang Jean Y H , Wong-Lin KongFatt , Sun Hourong , Zhang Zhen , Wang Xiangdong , Chen Wantao , Zou Xin 
Published: February 2023

AbstractCell-state transition can reveal additional information from single-cell ribonucleic acid (RNA)-sequencing data in time-resolved biological phenomena. However, most of the current methods are based on the time derivative of the gene expression state, which restricts them to the short-term evolution of cell states. Here, we present single-cell State Transition Across-samples of RNA-seq data (scSTAR), which overcomes this limitation by constructing a paired-cell projection between biological conditions with an arbitrary time span by maximizing the covariance between two feature spaces using partial least square and minimum squared error methods. In mouse ageing data, the response to stress in CD4+ memory T cell subtypes was found to be associated with ageing. A novel Treg subtype characterized by mTORC activation was identified to be associated with antitumour immune suppression, which was confirmed by immunofluorescence microscopy and survival analysis in 11 cancers from The Cancer Genome Atlas Program. On melanoma data, scSTAR improved immunotherapy-response prediction accuracy from 0.8 to 0.96.
Insights into risk factors for basal cell carcinoma: a Mendelian randomization study
Authors: Li Wenjie , Wang Wei 
Published: February 2023

Abstract
Basal cell carcinoma (BCC) is one of the most common skin cancers. However, risk factors for BCC, especially nonenvironmental features, have not been wholly identified. Consequently, we conducted a Mendelian randomization (MR) analysis to explore possible causal risk factors in a cohort of millions of Europeans. We used data on genetic variants for risk factors from publicly available genome-wide association studies. This resulted in the present MR study that analysed 43 risk factors and demonstrates that telomere length [odds ratio (OR) 1.53, 95% confidence interval (CI) 1.35–1.74, P &lt; 0.001], birthweight (OR 1.13, 95% CI 1.01–1.26, P = 0.03) and height (OR 1.07, 95% CI 1.01–1.13, P = 0.02) may casually be related to an increased risk of BCC. However, no genetic liability between BCC risk and other potential risk factors was noted. These findings may help contribute to identifying high-risk populations susceptible to BCC.
Repetitive transcranial magnetic stimulation rescues simulated space complex environment–induced emotional and social impairments by enhancing neuronal excitability in the medial prefrontal cortex
Authors: Liang Rong , Wang Ling , Li Xinyao , Liu Xiaohui , Chang Haonan , Xu Qing , Wang Yue , Xu Dong , Liu Dong , Yang Jiajia , Zheng Chenguang , Ming Dong 
Published: February 2023

Abstract
Studies have shown that spaceflight affects the emotional and social performance of astronauts. Identifying the neural mechanisms underlying the emotional and social effects of spacefaring-specific environments is essential to specify targeted treatment and prevention interventions. Repetitive transcranial magnetic stimulation (rTMS) has been shown to improve the neuronal excitability and is used to treat psychiatric disorders such as depression. To study the changes of excitatory neuron activity in medial prefrontal cortex (mPFC) in simulated space complex environment (SSCE), and to explore the role of rTMS in behavioral disorders caused by SSCE and the neural mechanism. We found that rTMS effectively ameliorated the emotional and social impairments of mice in SSCE, and acute rTMS could instantaneously enhance the excitability of mPFC neurons. During depression-like and social novelty behaviors, chronic rTMS enhanced the mPFC excitatory neuronal activity that was inhibited by SSCE. Above results suggested that rTMS can completely reverse the SSCE-induced mood and social impairment by enhancing the suppressed mPFC excitatory neuronal activity. It was further found that rTMS suppressed the SSCE-induced excessive dopamine D2 receptor expression, which may be the cellular mechanism by which rTMS potentiates the SSCE-evoked hypoactive mPFC excitatory neurons. Our current results raise the possibility of rTMS being applied as a novel neuromodulation for mental health protection in spaceflight.
Genetic overlap between cortical brain morphometry and frontotemporal dementia risk
Authors: Diaz-Torres Santiago , Ogonowski Natalia , García-Marín Luis M , Bonham Luke W , Duran-Aniotz Claudia , Yokoyama Jennifer S , Rentería Miguel E 
Published: February 2023

Abstract
Frontotemporal dementia (FTD) has a complex genetic etiology, where the precise mechanisms underlying the selective vulnerability of brain regions remain unknown. We leveraged summary-based data from genome-wide association studies (GWAS) and performed LD score regression to estimate pairwise genetic correlations between FTD risk and cortical brain imaging. Then, we isolated specific genomic loci with a shared etiology between FTD and brain structure. We also performed functional annotation, summary-data-based Mendelian randomization for eQTL using human peripheral blood and brain tissue data, and evaluated the gene expression in mice targeted brain regions to better understand the dynamics of the FTD candidate genes.
Pairwise genetic correlation estimates between FTD and brain morphology measures were high but not statistically significant. We identified 5 brain regions with a strong genetic correlation (rg &gt; 0.45) with FTD risk. Functional annotation identified 8 protein-coding genes. Building upon these findings, we show in a mouse model of FTD that cortical N-ethylmaleimide sensitive factor (NSF) expression decreases with age. Our results highlight the molecular and genetic overlap between brain morphology and higher risk for FTD, specifically for the right inferior parietal surface area and right medial orbitofrontal cortical thickness. In addition, our findings implicate NSF gene expression in the etiology of FTD.
Mortality in heart failure with and without autoimmune disease
Authors: Sun Guoli , Faurschou Mikkel , Vinding Naja E , Yafasova Adelina , Kristensen Søren L , Ahlehoff Ole , Schou Morten , Fosbøl Emil L , Køber Lars , Butt Jawad H 
Published: February 2023

Abstract

Aims
Autoimmune diseases (AIDs) are associated with a higher risk of heart failure (HF). However, data on the prognosis of HF patients with a history of AID are limited. The aim was to investigate the rates of all-cause mortality and HF hospitalization in a large, nationwide cohort of patient with HF according to a history of 29 AIDs

Methods and results
Using Danish nationwide registries, each HF patient (diagnosed 2000–18) with a history of AID was matched with four HF patients without AID by age, sex, and year of HF diagnosis. Rates of outcomes were compared by Cox regression models. The prevalence of AID in patients with HF was 10.7%. In total, 21 256 HF patients with a history of AID were matched with 85 024 HF patients without AID (median age 77 years; 58.9% female). During a median follow-up of 3.2 years, the incidence rates per 100 person-years for all-cause mortality were 17.1 (95% confidence interval, 16.9–17.4) and 14.4 (14.3–14.6) in patients with and without AID, respectively. The corresponding rates for HF hospitalization were 5.0 (4.9–5.1) and 5.2 (5.1–5.4), respectively. A history of AID was associated with higher rate of all-cause mortality [hazard ratio (HR) 1.14 (1.12–1.17)], but not HF hospitalization [HR 1.00 (0.96–1.04)] compared with no AID.

Conclusions
In a nationwide cohort study, patients with HF and a history of AID had a higher associated rate of mortality than those without a history of AID.
New insights into trait introgression with the look-ahead intercrossing strategy
Authors: Ni Zheng , Moeinizade Saba , Kusmec Aaron , Hu Guiping , Wang Lizhi , Schnable Patrick S 
Published: February 2023

Abstract
Trait introgression (TI) can be a time-consuming and costly task that typically requires multiple generations of backcrossing (BC). Usually, the aim is to introduce one or more alleles (e.g. QTLs) from a single donor into an elite recipient, both of which are fully inbred. This article studies the potential advantages of incorporating intercrossing (IC) into TI programs when compared with relying solely on the traditional BC framework. We simulate a TI breeding pipeline using 3 previously proposed selection strategies for the traditional BC scheme and 3 modified strategies that allow IC. Our proposed look-ahead intercrossing method (LAS-IC) combines look-ahead Monte Carlo simulations, intercrossing, and additional selection criteria to improve computational efficiency. We compared the efficiency of the 6 strategies across 5 levels of resource availability considering the generation when the major QTLs have been successfully introduced into the recipient and a desired background recovery rate reached. Simulations demonstrate that the inclusion of intercrossing in a TI program can substantially increase efficiency and the probability of success. The proposed LAS-IC provides the highest probability of success across the different scenarios using fewer resources compared with BC-only strategies.
Highly accurate genome assembly of an improved high-yielding silkworm strain, Nichi01
Authors: Waizumi Ryusei , Tsubota Takuya , Jouraku Akiya , Kuwazaki Seigo , Yokoi Kakeru , Iizuka Tetsuya , Yamamoto Kimiko , Sezutsu Hideki 
Published: February 2023

Abstract
The silkworm (Bombyx mori) is an important lepidopteran model insect and an industrial domestic animal traditionally used for silk production. Here, we report the genome assembly of an improved Japanese strain Nichi01, in which the cocoon yield is comparable to that of commercial silkworm strains. The integration of PacBio Sequel II long-read and ddRAD-seq-based high-density genetic linkage map achieved the highest quality genome assembly of silkworms to date; 22 of the 28 pseudomolecules contained telomeric repeats at both ends, and only four gaps were present in the assembly. A total of 452 Mbp of the assembly with an N50 of 16.614 Mbp covered 99.3% of the complete orthologs of the lepidopteran core genes. Although the genome sequence of Nichi01 and that of the previously reported low-yielding tropical strain p50T assured their accuracy in most regions, we corrected several regions, misassembled in p50T, in our assembly. A total of 18,397 proteins were predicted using over 95 Gb of mRNA-seq derived from 10 different organs, covering 96.9% of the complete orthologs of the lepidopteran core genes. The final assembly and annotation files are available in KAIKObase (https://kaikobase.dna.affrc.go.jp/index.html) along with a genome browser and BLAST searching service, which would facilitate further studies and the breeding of silkworms and other insects.
Inferring Balancing Selection From Genome-Scale Data
Authors: Bitarello Bárbara D , Brandt Débora Y C , Meyer Diogo , Andrés Aida M 
Published: February 2023

AbstractThe identification of genomic regions and genes that have evolved under natural selection is a fundamental objective in the field of evolutionary genetics. While various approaches have been established for the detection of targets of positive selection, methods for identifying targets of balancing selection, a form of natural selection that preserves genetic and phenotypic diversity within populations, have yet to be fully developed. Despite this, balancing selection is increasingly acknowledged as a significant driver of diversity within populations, and the identification of its signatures in genomes is essential for understanding its role in evolution. In recent years, a plethora of sophisticated methods has been developed for the detection of patterns of linked variation produced by balancing selection, such as high levels of polymorphism, altered allele-frequency distributions, and polymorphism sharing across divergent populations. In this review, we provide a comprehensive overview of classical and contemporary methods, offer guidance on the choice of appropriate methods, and discuss the importance of avoiding artifacts and of considering alternative evolutionary processes. The increasing availability of genome-scale datasets holds the potential to assist in the identification of new targets and the quantification of the prevalence of balancing selection, thus enhancing our understanding of its role in natural populations.
Geroscience and Public Health’s Plastic “Ecology of Ideas”
Authors: Farrelly Colin 
Published: February 2023

Abstract
In his 1910 JAMA address, the physician and pathologist Christian Herter (1865–1910) emphasized the importance of plasticity in science. Herter’s insight is significant for understanding how public health’s “ecology of ideas” must evolve and change as the health challenges facing populations alter through the different stages of “epidemiologic transition”. The foundational moral aspiration (ie, disease control) and intellectual suppositions (eg, that public health is “purchasable”) of the early twentieth-century public health pioneers C.-E.A Winslow (1877–1957) and his mentor Hermann Biggs (1859–1923) were shaped by sanitation science and were deployed to mitigate the risks of early-life mortality. But to meet the health challenges of today’s aging world, public health’s “ecology of ideas” must be plastic, and thus open to revision and refinement in terms of both its foundational moral aspirations and the intellectual suppositions concerning how to best improve population health. More medical research is needed in rate (of aging) control versus disease control.
Examining the Impact of Socioeconomic Position Across the Life Course on Cognitive Function and Brain Structure in Healthy Aging
Authors: De Looze Céline , Demnitz Naiara , Knight Silvin , Carey Daniel , Meaney Jim , Kenny Rose Anne , McCrory Cathal 
Published: February 2023

Abstract
This study explores the relationship of life-course intergenerational social mobility with cognitive function and brain structure in older adults using Diagonal Reference Models. Data from the Irish Longitudinal Study on Ageing, a population-based cohort of adults aged 50 years and older (N = 4 620 participants; mean age: 66.1; standard deviation: 9.1; 55% female) was used for analysis. Brain magnetic resonance imaging data were available for 464 participants. Social mobility was characterized as the difference between childhood socioeconomic position (SEP; ie, father’s occupation) and adulthood SEP (ie, own occupation). The Montreal Cognitive Assessment (MoCA), the Mini-Mental State Examination (MMSE), cortical thickness, and total gray matter volume (GMV) served as global cognitive and brain measures. Exploratory analyses included the volumes of the ventromedial prefrontal cortex (vmPFC), anterior cingulate (AC), hippocampus, and amygdala. A social gradient in cognitive function was observed among the intergenerationally stable; brain structure was not as clearly socially patterned. Adulthood SEP was significantly associated with MoCA (weight = 0.76; p &lt; .001), MMSE (weight = 0.91; p &lt; .001), GMV (weight = 0.77; p = .002), and AC volume (weight = 0.76; p &lt; .001), whereas childhood SEP was associated with vmPFC volume (weight = 1.00; p = .003). There was no independent association of social mobility with any of the outcomes. Together our results suggest that both childhood and adulthood SEP are important in shaping later-life brain health, but that adulthood SEP predominates in terms of its influence. This is potentially an important insight as it suggests that brain health may be modifiable if socioeconomic circumstances change.
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure
Authors: Huang Liping , Yang Zhongyue , Kirschke Catherine P , Prouteau Clément , Copin Marie-Christine , Bonneau Dominique , Pellier Isabelle , Coutant Régis , Miot Charline , Ziegler Alban 
Published: February 2023

Abstract
Zinc is an essential trace mineral. Dietary zinc deficiency results in stunted growth, skin lesions, hypogonadism and frequent infections in humans. Mice genetically lacking Slc30a7 suffer from mild zinc deficiency and are prone to development of prostate cancer and insulin resistance. Disease-causing variants or mutations in the human SLC30A7 (ZNT7) gene have not been previously reported. Here, we describe two-boy siblings from a French family with stunted growth, testicular hypoplasia and bone marrow failure. Exome sequencing revealed compound heterozygous variants in ZNT7 consisting of NM_133496.5:c.21dup; p.Asp8ArgfsTer3 and c.842 + 15 T &gt; C inherited from their unaffected mother and father, respectively. The c.21dup variant led to a premature stop codon generated in exon 1 of the ZNT7 coding sequence. RNA-seq analysis demonstrated that the c.842 + 15 T &gt; C variant resulted in a leaky mRNA splicing event generating a premature stop codon right after the splicing donor site of exon 8. Moreover, the expression of ZNT7 protein was remarkably reduced by 80–96% in the affected brothers compared to the control cells. These findings strongly suggest that biallelic variants in SLC30A7 should be considered as a cause of growth retardation, testicular hypoplasia and syndromic bone marrow failure.