bluuebunny/crossref_metadata_2025 huggingface dataset:
Karyotype and LTR-RTs analysis provide insights into oak genomic evolution
Authors: Cao Rui-Bin , Chen Ran , Liao Ke-Xin , Li He , Xu Gang-Biao , Jiang Xiao-Long
Published: April 2024

Background

Whole-genome duplication and long terminal repeat retrotransposons (LTR-RTs) amplification in organisms are essential factors that affect speciation, local adaptation, and diversification of organisms. Understanding the karyotype projection and LTR-RTs amplification could contribute to untangling evolutionary history. This study compared the karyotype and LTR-RTs evolution in the genomes of eight oaks, a dominant lineage in Northern Hemisphere forests.

Results

Karyotype projections showed that chromosomal evolution was relatively conservative in oaks, especially on chromosomes 1 and 7. Modern oak chromosomes formed through multiple fusions, fissions, and rearrangements after an ancestral triplication event. Species-specific chromosomal rearrangements revealed fragments preserved through natural selection and adaptive evolution. A total of 441,449 full-length LTR-RTs were identified from eight oak genomes, and the number of LTR-RTs for oaks from section Cyclobalanopsis was larger than in other sections. Recent amplification of the species-specific LTR-RTs lineages resulted in significant variation in the abundance and composition of LTR-RTs among oaks. The LTR-RTs insertion suppresses gene expression, and the suppressed intensity in gene regions was larger than in promoter regions. Some centromere and rearrangement regions indicated high-density peaks of LTR/Copia and LTR/Gypsy. Different centromeric regional repeat units (32, 78, 79 bp) were detected on different Q. glauca chromosomes.

Conclusion

Chromosome fusions and arm exchanges contribute to the formation of oak karyotypes. The composition and abundance of LTR-RTs are affected by its recent amplification. LTR-RTs random retrotransposition suppresses gene expression and is enriched in centromere and chromosomal rearrangement regions. This study provides novel insights into the evolutionary history of oak karyotypes and the organization, amplification, and function of LTR-RTs.
Joint application of A-InDels and miniSTRs for forensic personal, full and half sibling identifications, and genetic differentiation analyses in two populations from China
Authors: Cai Meiming , Lei Fanzhang , Liu Yanfang , Wang Xi , Wang Hongdan , Xie Weibing , Yang Zi , Yang Shangwu , Zhu Bofeng
Published: April 2024

Background

Previously, a novel multiplex system of 64 loci was constructed based on capillary electrophoresis platform, including 59 autosomal insertion/deletions (A-InDels), two Y-chromosome InDels, two mini short tandem repeats (miniSTRs), and an Amelogenin gene. The aim of this study is to evaluate the efficiencies of this multiplex system for individual identification, paternity testing and biogeographic ancestry inference in Chinese Hezhou Han (CHH) and Hubei Tujia (CTH) groups, providing valuable insights for forensic anthropology and population genetics research.

Results

The cumulative values of power of discrimination (CDP) and probability of exclusion (CPE) for the 59 A-InDels and two miniSTRs were 0.99999999999999999999999999754, 0.99999905; and 0.99999999999999999999999999998, 0.99999898 in CTH and CHH groups, respectively. When the likelihood ratio thresholds were set to 1 or 10, more than 95% of the full sibling pairs could be identified from unrelated individual pairs, and the false positive rates were less than 1.2% in both CTH and CHH groups. Biogeographic ancestry inference models based on 35 populations were constructed with three algorithms: random forest, adaptive boosting and extreme gradient boosting, and then 10-fold cross-validation analyses were applied to test these three models with the average accuracies of 86.59%, 84.22% and 87.80%, respectively. In addition, we also investigated the genetic relationships between the two studied groups with 33 reference populations using population statistical methods of FST, DA, phylogenetic tree, PCA, STRUCTURE and TreeMix analyses. The present results showed that compared to other continental populations, the CTH and CHH groups had closer genetic affinities to East Asian populations.

Conclusions

This novel multiplex system has high CDP and CPE in CTH and CHH groups, which can be used as a powerful tool for individual identification and paternity testing. According to various genetic analysis methods, the genetic structures of CTH and CHH groups are relatively similar to the reference East Asian populations.
Genomic evidence for human-mediated introgressive hybridization and selection in the developed breed
Authors: Du Heng , Liu Zhen , Lu Shi-Yu , Jiang Li , Zhou Lei , Liu Jian-Feng
Published: April 2024

Background

The pig (Sus Scrofa) is one of the oldest domesticated livestock species that has undergone extensive improvement through modern breeding. European breeds have advantages in lean meat development and highly-productive body type, whereas Asian breeds possess extraordinary fat deposition and reproductive performance. Consequently, Eurasian breeds have been extensively used to develop modern commercial breeds for fast-growing and high prolificacy. However, limited by the sequencing technology, the genome architecture of some nascent developed breeds and the human-mediated impact on their genomes are still unknown.

Results

Through whole-genome analysis of 178 individuals from an Asian locally developed pig breed, Beijing Black pig, and its two ancestors from two different continents, we found the pervasive inconsistent gene trees and species trees across the genome of Beijing Black pig, which suggests its introgressive hybrid origin. Interestingly, we discovered that this developed breed has more genetic relationships with European pigs and an unexpected introgression from Asian pigs to this breed, which indicated that human-mediated introgression could form the porcine genome architecture in a completely different type compared to native introgression. We identified 554 genomic regions occupied 63.30 Mb with signals of introgression from the Asian ancestry to Beijing Black pig, and the genes in these regions enriched in pathways associated with meat quality, fertility, and disease-resistant. Additionally, a proportion of 7.77% of genomic regions were recognized as regions that have been under selection. Moreover, combined with the results of a genome-wide association study for meat quality traits in the 1537 Beijing Black pig population, two important candidate genes related to meat quality traits were identified. DNAJC6 is related to intramuscular fat content and fat deposition, and RUFY4 is related to meat pH and tenderness.

Conclusions

Our research provides insight for analyzing the origins of nascent developed breeds and genome-wide selection remaining in the developed breeds mediated by humans during modern breeding.
Influence of PhoPQ and PmrAB two component system alternations on colistin resistance from non-mcr colistin resistant clinical E. Coli strains
Authors: Wang Ching-Hsun , Siu L. Kristopher , Chang Feng-Yee , Tsai Yu-Kuo , Huang Li-Yueh , Lin Jung-Chung
Published: April 2024

Background

The current understanding of acquired chromosomal colistin resistance mechanisms in Enterobacterales primarily involves the disruption of the upstream PmrAB and PhoPQ two-component system (TCS) control caused by mutations in the regulatory genes. Interestingly, previous studies have yielded conflicting results regarding the interaction of regulatory genes related to colistin resistance in Escherichia coli, specifically those surrounding PhoPQ and PmrAB TCS.

Results

In our study, we focused on two clinical non-mcr colistin-resistant strains of E. coli, TSAREC02 and TSAREC03, to gain a better understanding of their resistance mechanisms. Upon analysis, we discovered that TSAREC02 had a deletion (Δ27–45) in MgrB, as well as substitutions (G206R, Y222H) in PmrB. On the other hand, TSAREC03 exhibited a long deletion (Δ84–224) in PhoP, along with substitutions (M1I, L14P, P178S, T235N) in PmrB. We employed recombinant DNA techniques to explore the interaction between the PhoPQ and PmrAB two-component systems (TCSs) and examine the impact of the mutated phoPQ and pmrB genes on the minimum inhibitory concentrations (MICs) of colistin. We observed significant changes in the expression of the pmrD gene, which encodes a connector protein regulated by the PhoPQ TCS, in the TSAREC02 wild-type (WT)-mgrB replacement mutant and the TSAREC03 WT-phoP replacement mutant, compared to their respective parental strains. However, the expressions of pmrB/pmrA, which reflect PmrAB TCS activity, and the colistin MICs remained unchanged. In contrast, the colistin MICs and pmrB/pmrA expression levels were significantly reduced in the pmrB deletion mutants from both TSAREC02 and TSAREC03, compared to their parental strains. Moreover, we were able to restore colistin resistance and the expressions of pmrB/pmrA by transforming a plasmid containing the parental mutated pmrB back into the TSAREC02 and TSAREC03 mutants, respectively.

Conclusion

While additional data from clinical E. coli isolates are necessary to validate whether our findings could be broadly applied to the E. coli population, our study illuminates distinct regulatory pathway interactions involving colistin resistance in E. coli compared to other species of Enterobacterales. The added information provided by our study contribute to a deeper understanding of the complex pathway interactions within Enterobacterales.
Leaf functional traits and resource use strategies facilitate the spread of invasive plant Parthenium hysterophorus across an elevational gradient in western Himalayas
Authors: Sharma Padma , Rathee Sonia , Ahmad Mustaqeem , Siddiqui Manzer H. , Alamri Saud , Kaur Shalinder , Kohli Ravinder K. , Singh Harminder Pal , Batish Daizy R.
Published: April 2024

Parthenium hysterophorus L. (Asteraceae) is a highly prevalent invasive species in subtropical regions across the world. It has recently been seen to shift from low (subtropical) to high (sub-temperate) elevations. Nevertheless, there is a dearth of research investigating the adaptive responses and the significance of leaf functional traits in promoting the expansion to high elevations. The current study investigated the variations and trade-offs among 14 leaf traits (structural, photosynthetic, and nutrient content) of P. hysterophorus across different elevations in the western Himalayas, India. Plots measuring 20 × 40 m were established at different elevations (700 m, 1100 m, 1400 m, and 1800 m) to collect leaf trait data for P. hysterophorus. Along the elevational gradient, significant variations were noticed in leaf morphological parameters, leaf nutrient content, and leaf photosynthetic parameters. Significant increases were observed in the specific leaf area, leaf thickness, and chlorophyll a, total chlorophyll and carotenoid content, as well as leaf nitrogen and phosphorus content with elevation. On the other hand, there were reductions in the amount of chlorophyll b, photosynthetic efficiency, leaf dry matter content, leaf mass per area, and leaf water content. The trait-trait relationships between leaf water content and dry weight and between leaf area and dry weight were stronger at higher elevations. The results show that leaf trait variability and trait-trait correlations are very important for sustaining plant fitness and growth rates in low-temperature, high-irradiance, resource-limited environments at relatively high elevations. To summarise, the findings suggest that P. hysterophorus can expand its range to higher elevations by broadening its functional niche through changes in leaf traits and resource utilisation strategies.
The effects of social support and self-efficacy on hopefulness in low-income older adults during COVID-19 pandemic
Authors: Kwon Soonhyung , Benoit Ellen , Windsor Liliane
Published: April 2024

Background

Social support and self-efficacy play a significant role in improving positive psychological well-being in marginalized older adults. However, to date, there are few studies identifying the relationships during the COVID-19 pandemic. We examined the effect of social support and self-efficacy on hopefulness in a majority Black sample of marginalized low-income older adults during the COVID-19 pandemic.

Methods

This study used baseline data from a clinical trial designed to increase COVID-19 testing in Essex County, NJ, United States. The dataset involved participants 50 years old or older. We conducted: 1) cross-sectional descriptive/frequency statistics to understand the sociodemographic characteristics, 2) multivariate linear regression to investigate the direct relationships between social support subscales or self-efficacy and hopefulness, and 3) mediation analyses to examine the mediating role of self-efficacy in the relationship between social support and hopefulness.

Results

Our findings showed that self-efficacy had a partial mediating effect on the relationship between social support and hopefulness. After adjusting for covariate variables, social support subscales (i.e., emotional/informational, tangible, affectionate, positive social interaction social support) and self-efficacy were significantly associated with hopefulness. The indirect effect of social support via self-efficacy was positive and statistically significant.

Conclusion

Self-efficacy mediated the relationship between social support and hopefulness in marginalized older adults aged 50 and over. Further research is needed to identify the various facets of positive psychological well-being using longitudinal data and a larger sample size.
Trends in immunological markers of transfusion transmissible infections among blood donors in Mamfe District Hospital, Southwest Cameroon
Authors: Ngomtcho Sen Claudine Henriette , Njike Ngo Biyong Olive , Ekwere Timothy Amos , Wandji Takemegni Jonas Merlin , Mbah Henrietta , Makamdoum Bogne Sandra Maella , Nkengkanna Omer Aurelle , Fouamno Kamga Henri Lucien
Published: April 2024

Background

Blood transfusion is associated with exposure to blood Transfusion Transmissible Infection (TTIs). The threat posed by the blood-borne pathogens is disproportionately distributed in different healthcare facilities in Cameroon. Thus, there is a need for continuous surveillance of TTIs in the country. This study aimed to assess the screening procedure for blood transfusion and determine the trend in immunological markers of TTIs among blood donors at the Mamfe District Hospital.

Methods

A prospective descriptive, cross-sectional and analytical study was conducted at Mamfe District Hospital from March to May 2022. A total of 165 blood donors were recruited by the consecutive sampling method. Donors were screened using both Rapid diagnostic tests,T. pallidum haemagglutination test and indirect enzyme-linked immunosorbent assay (ELISA) for the detection of TTIs. Data generated was entered into an Excel spreadsheet and analysed using the statistical software R, version 4.2.0. Statistical analysis included descriptive statistics of percentages, means ± standard deviation, and student t-test was used to compare both diagnostic techniques, and was considered significant when p < 0.05.

Results

A hundred and sixty-five donors were enrolled in the study with a male preponderance giving a male-female sex ratio of 22.5 and a mean age of 32.23 ± 8.60 years. The majority (75.2%) of the donors were of the O-positive blood type, repeat donors (69.1%) and were mainly family replacement and paid donors as against the voluntary blood donors (39.4% and 37.0% vs. 23.6% respectively). overall TTIs prevalence was 18.78% (31/165) (), with HBsAg being the most predominant marker at 12.12% (20/165) followed by Treponema pallidum, HCV and HIV antibodies at 4.85 (8/165), 1.21%(2/165), 0.60% (1/165) respectively. Except for the HBV, The prevalence of TTIs was higher when using a single RDT than the ELISA test, and the difference was significant (p < 0.05).

Conclusion

Bloodborne pathogens remain a major menace to safe blood transfusion practice in Mamfe district hospital and their detection could be easily missed if the RDT method alone is used for donor screening. Therefore, the donor screening protocol in Mamfe District Hospital should systematically incorporate a confirmation diagnostic test such as ELISA.
Clinical characteristics and antimicrobial therapy of healthcare-associated carbapenem-non-susceptible gram-negative bacterial meningitis: a 16-year retrospective cohort study
Authors: Xu Jiyan , Du Xiaoling , Li Dan , Li Pei , Guo Qinglan , Xu Xiaogang , Hu Fupin , Wang Minggui
Published: April 2024

Objective

Healthcare-associated Gram-negative bacterial meningitis is a substantial clinical issue with poor outcomes, especially for neurosurgical patients. Here, we aimed to study the characteristics and treatment options of patients with healthcare-associated carbapenem-non-susceptible (Carba-NS) Gram-negative bacterial meningitis.

Methods

This observational cohort study was conducted at a teaching hospital from 2004 to 2019. The clinical characteristics of patients with meningitis with Carba-NS and carbapenem-susceptible (Carba-S) bacilli were compared, and the antimicrobial chemotherapy regimens and outcomes for Carba-NS Gram-negative bacterial meningitis were analyzed.

Results

A total of 505 patients were included, of whom 83.8% were post-neurosurgical patients. The most common isolates were Acinetobacter spp. and Klebsiella spp., which had meropenem-resistance rates of 50.6% and 42.5%, respectively, and showed a markedly growing carbapenem-resistance trend. Kaplan–Meier curve analysis revealed that Carba-NS Gram-negative bacilli were associated with a significantly higher in-hospital mortality rate (18.8%, 35/186) compared to the Carba-S group (7.4%, 9/122; P = 0.001). For Carba-NS Enterobacterales meningitis, aminoglycoside-based and trimethoprim-sulfamethoxazole-based regimens yielded significantly higher clinical efficacy rates than non-aminoglycoside-based and non-trimethoprim-sulfamethoxazole-based regimens (69.0% vs. 38.7%, P = 0.019 and 81.8% vs. 46.9%, P = 0.036, respectively). For Carba-NS A. baumannii complex meningitis, tetracycline-based (including doxycycline, minocycline, or tigecycline) therapy achieved a significantly higher clinical efficacy rate (62.9%, 22/35) than the non-tetracycline-based therapy group (40.4%, 19/47; P = 0.044).

Conclusions

Our findings revealed that Carba-NS Gram-negative bacilli are associated with higher in-hospital mortality in patients with healthcare-associated meningitis. The combination therapies involving particular old antibiotics may improve patients’ outcome.

Trial registration

This study was registered on the Chinese Clinical Trial Register under ChiCTR2000036572 (08/2020).
The plasma kynurenine-to-tryptophan ratio as a biomarker of tuberculosis disease in people living with HIV on antiretroviral therapy: an exploratory nested case–control study
Authors: Gatechompol Sivaporn , Lutter René , Vaz Frédéric M. , Ubolyam Sasiwimol , Avihingsanon Anchalee , Kerr Stephen J. , van Leth Frank , Cobelens Frank
Published: April 2024

Background

Non-sputum-based tests are needed to predict or diagnose tuberculosis (TB) disease in people living with HIV (PWH). The enzyme indoleamine 2, 3-dioxygenase-1 (IDO1) is expressed in tuberculoid granuloma and catabolizes tryptophan (Trp) to kynurenine (Kyn). IDO1 activity compromises innate and adaptive immune responses, promoting mycobacterial survival. The plasma Kyn-to-Trp (K/T) ratio is a potential TB diagnostic and/or predictive biomarker in PWH on long-term antiretroviral therapy (ART).

Methods

We compared plasma K/T ratios in samples from PWH, who were followed up prospectively and developed TB disease after ART initiation. Controls were matched for age and duration of ART. Kyn and Trp were measured at 3 timepoints; at TB diagnosis, 6 months before TB diagnosis and 6 months after TB diagnosis, using ultra performance liquid chromatography combined with mass spectrometry.

Results

The K/T ratios were higher for patients with TB disease at time of diagnosis (median, 0.086; IQR, 0.069–0.123) compared to controls (0.055; IQR 0.045–0.064; p = 0.006), but not before or after TB diagnosis. K/T ratios significantly declined after successful TB treatment, but increased upon treatment failure. The K/T ratios showed a parabolic correlation with CD4 cell counts in participants with TB (p = 0.005), but there was no correlation in controls.

Conclusions

The plasma K/T ratio helped identify TB disease and may serve as an adjunctive biomarker for for monitoring TB treatment in PWH. Validation studies to ascertain these findings and evaluate the optimum cut-off for diagnosis of TB disease in PWH should be undertaken in well-designed prospective cohorts.

Trial registration

ClinicalTrials.gov Identifier: NCT00411983.
Measuring job stress of dental workers in China during the COVID-19 pandemic: reliability and validity of the hospital consultants’ job stress questionnaire
Authors: Long Huiqing , Yan Li , Zhong Xiaogang , Yang Lu , Liu Yiyun , Pu Juncai , Lou Fangzhi , Luo Shihong , Zhang Yingying , Liu Yang , Ji Ping , Jin Xin
Published: April 2024

Background

The Hospital Consultants’ Job Stress Questionnaire (HCJSQ) has been widely used to assess sources and levels of job stress. However, its reliability and validity among Chinese dental workers have not been extensively studied. The objective of this study was to assess the reliability and validity of the HCJSQ specifically in Chinese dental workers.

Methods

The HCJSQ was used to explore the sources and the global ratings of job stress among Chinese dental workers. To assess the reliability and validity of the HCJSQ, various statistical measures were employed, including Cronbach’s alpha coefficient, Spearman-Brown coefficient, Spearman correlation coefficient, exploratory factor analysis, confirmatory factor analysis, convergent validity, and discriminant validity.

Results

Of the participants, 526 (17.4%) reported high levels of stress, while 1,246 (41.3%) and 1,248 (41.3%) reported moderate and low levels of stress, respectively. The Cronbach’s alpha coefficient for the modified HCJSQ was 0.903, and the Spearman-Brown coefficient was 0.904. Spearman correlation coefficient between individuals’ items and the total score ranged from 0.438 to 0.785 (p < 0.05). Exploratory factor analysis revealed that three factors accounted for 60.243% of the total variance. Confirmatory factor analysis demonstrated factor loadings between 0.624 and 0.834 on the specified items. The fit indices of the confirmatory factor analysis indicated good model fit, with a Root Mean Square Error of Approximation of 0.064, Normative Fit Index of 0.937, Comparative Fit Index of 0.952, Incremental Fit Index of 0.952, Tucker-Lewis index of 0.941, and Goodness of Fit Index of 0.944. Additionally, the convergent validity and discriminant validity showed a good fit for the three-factor model.

Conclusion

The results of this study confirm that Chinese dental workers experience high levels of stress, and the three-factor model of the HCJSQ proves to be a suitable instrument for evaluating the sources and levels of job stress among Chinese dental workers. Therefore, it is imperative that relevant entities such as hospitals, medical associations, and government take appropriate measures to address the existing situation.
Prescription opioid dispensing patterns among patients with schizophrenia or bipolar disorder
Authors: Roy Brittany D. , Li Jianheng , Lally Cathy , Akerman Sarah C. , Sullivan Maria A. , Fratantonio James , Flanders William Dana , Wenten Madé
Published: April 2024

Background

Patients with schizophrenia (SZ) or bipolar disorder (BD) may have increased risk of complications from prescribed opioids, including opioid-induced respiratory depression. We compared prescription opioid pain medication dispensing for patients with SZ or BD versus controls over 5 years to assess dispensing trends.

Methods

This retrospective, observational study analysed US claims data from the IBM® MarketScan® Commercial and Multi-State Medicaid databases for individuals aged 18–64 years with prevalent SZ or BD for years 2015–2019 compared with age- and sex-matched controls. Baseline characteristics, comorbidities, and medication use were assessed. Proportions of individuals dispensed prescription opioids chronically (ie, ≥70 days over a 90-day period or ≥ 6 prescriptions annually) or nonchronically (≥1 prescription, chronic definition not met) were assessed.

Results

In 2019, the Commercial and Medicaid databases contained records for 4773 and 30,179 patients with SZ and 52,780 and 63,455 patients with BD, respectively. Patients with SZ or BD had a higher prevalence of comorbidities, including pain, versus controls in each analysis year. From 2015 to 2019, among commercially insured patients with SZ, chronic opioid-dispensing proportions decreased from 6.1% (controls: 2.7%) to 2.3% (controls: 1.2%) and, for patients with BD, from 11.4% (controls: 2.7%) to 6.4% (controls: 1.6%). Chronic opioid dispensing declined in Medicaid-covered patients with SZ from 15.0% (controls: 14.7%) to 6.7% (controls: 6.0%) and, for patients with BD, from 27.4% (controls: 12.0%) to 12.4% (controls: 4.7%). Among commercially insured patients with SZ, nonchronic opioid dispensing decreased from 15.5% (controls: 16.4%) to 10.7% (controls: 11.0%) and, for patients with BD, from 26.1% (controls: 17.5%) to 20.0% (controls: 12.2%). In Medicaid-covered patients with SZ, nonchronic opioid dispensing declined from 22.5% (controls: 24.4%) to 15.1% (controls: 12.7%) and, for patients with BD, from 32.3% (controls: 25.9%) to 24.6% (controls: 13.6%).

Conclusions

The proportions of individuals dispensed chronic or nonchronic opioid medications each year were similar between commercially and Medicaid-insured patients with SZ versus controls and were higher for patients with BD versus controls. From 2015 to 2019, the proportions of individuals who were dispensed prescription opioids chronically or nonchronically decreased for patients with SZ or BD and controls.
Psychometric properties of the Chinese version of the Quick Delay Questionnaire (C-QDQ) and ecological characteristics of reward-delay impulsivity of adults with ADHD
Authors: Chen Caili , Zhang Shiyu , Hong Haiheng , Qiu Sunwei , Zhou Yi , Zhao Mengjie , Pan Meirong , Si Feifei , Dong Min , Li Haimei , Wang Yufeng , Liu Lu , Sonuga-Barke Edmund J. S. , Qian Qiujin
Published: April 2024

Background

The Quick Delay Questionnaire (QDQ) is a short questionnaire designed to assess delay-related difficulties in adults. This study aimed to examine the reliability and validity of the Chinese version of the QDQ (C-QDQ) in Chinese adults, and explore the ecological characteristics of delay-related impulsivity in Chinese adults with attention-deficit/hyperactivity disorder (ADHD).

Methods

Data was collected from 302 adults, including ADHD (n = 209) and healthy controls (HCs) (n = 93). All participants completed the C-QDQ. The convergent validity, internal consistency, retest reliability and confirmatory factor analysis (CFA) of the C-QDQ were analyzed. The correlations between C-QDQ and two laboratory measures of delay-related difficulties and Barratt Impulsiveness Scale-11 (BIS-11), the comparison of C-QDQ scores between ADHD subgroups and HCs were also analyzed.

Results

The Cronbach’s α of C-QDQ was between 0.83 and 0.89. The intraclass correlation coefficient of C-QDQ was between 0.80 and 0.83. The results of CFA of C-QDQ favoured the original two-factor model (delay aversion and delay discounting). Significant positive associations were found between C-QDQ scores and BIS-11 total score and performance on the laboratory measure of delay-related difficulties. Participants with ADHD had higher C-QDQ scores than HCs, and female ADHD reported higher scores on delay discounting subscale than male. ADHD-combined type (ADHD-C) reported higher scores on delay aversion subscale than ADHD-inattention type (ADHD-I).

Conclusion

The C-QDQ is a valid and reliable tool to measure delay-related responses that appears to have clinical utility. It can present the delay-related impulsivity of patients with ADHD. Compared to HCs, the level of reward-delay impulsivity was higher in ADHD.
Interaction between HTR2A rs3125 and negative life events in suicide attempts among patients with major depressive disorder: a cross-sectional study
Authors: Pang Jian-Yue , Wang Yi-Ping , Teng Hui-Min , He Jin , Luo Rui , Feng Si-Meng , Yue Wei-Hua , Li Heng-Fen
Published: April 2024

Background

Both genetic and environmental factors play crucial roles in the development of major depressive disorder (MDD) and suicide attempts (SA). However, the interaction between both items remains unknown. This study aims to explore the interactions between the genetic variants of the serotonin 2 A receptor (HTR2A) and the nitric oxide synthase 1 (NOS1) and environmental factors in patients who experience MDD and SA.

Methods

A total of 334 patients with MDD and a history of SA (MDD-SA) were recruited alongside 518 patients with MDD with no history of SA (MDD-NSA), and 716 healthy controls (HC). The demographic data and clinical characteristics were collected. Sequenom mass spectrometry was used to detect eight tag-single nucleotide polymorphisms (tagSNPs) in HTR2A (rs1328683, rs17068986, and rs3125) and NOS1 (rs1123425, rs2682826, rs3741476, rs527590, and rs7959232). Generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-environment interactions.

Results

Four tagSNPs (rs17068986, rs3125, rs527590, and rs7959232) exhibited significant differences between the three groups. However, these differences were not significant between the MDD-SA and MDD-NSA groups after Bonferroni correction. A logistic regression analysis revealed that negative life events (OR = 1.495, 95%CI: 1.071–2.087, P = 0.018), self-guilt (OR = 2.263, 95%CI: 1.515–3.379, P < 0.001), and negative cognition (OR = 2.252, 95%CI: 1.264–4.013, P = 0.006) were all independently associated with SA in patients with MDD. Furthermore, GMDR analysis indicated a significant interaction between HTR2A rs3125 and negative life events. Negative life events in conjunction with the HTR2A rs3125 CG + GG genotype were associated with a higher SA risk in patients with MDD when compared to the absence of negative life events in conjunction with the CC genotype (OR = 2.547, 95% CI: 1.264–5.131, P = 0.009).

Conclusion

Several risk factors and a potential interaction between HTR2A rs3125 and negative life events were identified in patients with SA and MDD. The observed interaction likely modulates the risk of MDD and SA, shedding light on the pathogenesis of SA in patients with MDD.
Mid-term results of titanium–titanium modular neck femoral stem in primary total hip arthroplasty
Authors: Han Kye Young , Jang Jinwon , Kim Keong-Hwan
Published: April 2024

Background

Modular neck femoral stems are advantageous because they can accurately restore the ideal hip geometry using various options in terms of offset, length, and version. However, there are concerns regarding junctional problems. Despite several reports on such issues, there is a lack of study on mid- to long-term results of these stems. The current study evaluated the mid-term results of patients who underwent primary total hip arthroplasty using a titanium–titanium (Ti–Ti) modular neck femoral stem.

Methods

In total, data on 47 hips (42 patients) that could be followed-up for ≥ 5 years after primary total hip arthroplasty using the Ti–Ti modular neck femoral stem from 2011 to 2015 were reviewed. There were 22 male and 20 female patients, and their mean age was 56.3 (range: 31–76) years. The mean follow-up period was 8 (range: 5–12) years. Functional and radiological outcomes, complications, and reoperations were investigated. In addition, we conducted a comparative analysis of the outcomes between those who underwent surgery using the Ti–Ti modular neck femoral stem and 41 hips (35 patients, 19 males and 16 females) that underwent primary total hip arthroplasty using nonmodular femoral stems as a control.

Results

In all Ti–Ti cases, the mean Harris Hip Scores were 50.6 (range: 6–59) preoperatively and 92.7 (range: 78–99) at the last follow-up (P < 0.001). Regarding the neck component’s modularity, straight neck components were used in all Ti–Ti cases, and an anteverted or a retroverted neck was not used in any case. Stem revision was performed in one hip due to aseptic loosening. One hip underwent open reduction and internal fixation due to periprosthetic fracture without stem loosening. There were no cases of osteolysis and periprosthetic joint infection and clinically detectable junctional problems. The stem survival rate, with any stem revision as the endpoint, at 12 years was 96.6%. No significant difference was observed in the functional and radiological outcomes beween the Ti–Ti and nonmodular groups.

Conclusions

The Ti–Ti modular neck femoral stem had comparable results with broadly used nonmodular femoral stems; hence, it can be a reliable option in primary total hip arthroplasty. However, in terms of the modularity itself of the modular neck femoral stem, whether the modular neck femoral stem is useful in uncomplicated primary total hip arthroplasty is unclear.
Psychometric properties of the Disability of Arm Shoulder and Hand (DASH) in subjects with frozen shoulder: a reliability and validity study
Authors: Brindisino Fabrizio , Venturin Davide , Bartoli Matteo , Caselli Serena , Pellicciari Leonardo , Poser Antonio
Published: April 2024

Background

Frozen Shoulder (FS) is a painful condition characterized by severe pain and progressive restriction of shoulder movement, leading to functional impairment and reduced quality of life. While different Patient Reported Outcome Measurements (PROMs) tools exist for assessing shoulder diseases, few specific PROMs are validated for FS patients.

Purpose

This study aims to assess the psychometric properties of the Disability of Arm, Shoulder, and Hand (DASH) questionnaire in FS patients.

Methods

One hundred and twenty-four subjects (mean ± SD age = 55.4 ± 7.9 years; 55.6% female) diagnosed with FS were included and completed the DASH questionnaire, the Numerical Pain Rating Scale (NPRS), the Shoulder Pain and Disability Index (SPADI), and the Short-Form Health Survey 36 (SF-36). Floor or ceiling effects were investigated. Structural validity was analysed through a unidimensional Confirmatory Factor Analysis (CFA), internal consistency through Cronbach’s alpha, test-retest reliability through the Intraclass Correlation coefficient (ICC), measurement error through the Standard Error of Measurement (SEM), and the Minimum Detectable Change (MDC), and construct validity through the hypothesis testing with the correlation with the other outcome measures used.

Results

No floor or ceiling effects were observed. CFA confirmed a one-factor structure after addressing local item dependency (Root Mean Square Error of Approximation = 0.055; Standardized Root Mean Square Residual = 0.077; Comparative Fit Index = 0.970; Tucker-Lewis Index = 0.968). Cronbach’s alpha was high (= 0.951), and test-retest reliability was excellent (ICC = 0.999; 95% CI: 0.998-1.000). SEM was equal to 0.5 points, and MDC to 1.5 points. Construct validity was considered satisfactory as 80% of the a-priori hypotheses were met.

Conclusion

The DASH questionnaire demonstrated good psychometric properties in FS patients, supporting its use as a valuable tool for assessing the impact of FS in clinical and research settings.
Infection may play an important role in the pathogenesis of alveolar osteonecrosis following facial herpes zoster: a case report and literature review
Authors: Huang Kaikai , Wang Youyuan , Huang Yuhua , Han Shanshan , Yang Yu , Qu Pinghua , Liang Baoying , Zhen Qingyu , Chen Wenting , Lin Ying
Published: April 2024

Background

Herpes zoster (HZ) is one of the most common skin diseases caused by viruses. Facial HZ develops when the varicella-zoster virus affects the trigeminal nerve, and alveolar osteonecrosis is a rare complication. However, the exact pathogenesis of postherpetic alveolar osteonecrosis remains unclear.

Case description

We encountered a patient who presented to the dermatology clinic with facial HZ and tooth exfoliation in the upper right jaw, and panoramic radiography revealed decreased bone density and poor alveolar socket healing in his right maxilla. Biopsy of the alveolar process revealed fragments of nonvital lamellar bone, which were devoid of osteoblasts and osteocytes and were surrounded by numerous neutrophils and bacterial aggregates. Thus, the diagnosis of alveolar osteonecrosis following facial HZ was confirmed. He then underwent resection of the osteonecrotic tissue. The pathological findings of postoperative tissue were similar to those of previous biopsies. Varicella-zoster virus and multiple types of bacteria were detected through next-generation sequencing, and the species of bacteria were consistent with the results of bacterial culture. Antibiotics and valaciclovir were administered during the perioperative period. The patient showed good recovery at the 9-month follow-up.

Conclusions

The coexistence of bacterial and viral infection may play an important role in the pathogenesis of alveolar osteonecrosis following HZ. To our knowledge, we are the first to directly explore microbial pathogens in a case of postherpetic alveolar osteonecrosis through next-generation sequencing and bacterial culture. We recommend that oral examinations be carefully conducted for patients who are diagnosed with facial HZ, even if their facial rashes have faded away. We suggest that a prolonged and full-dose antiviral therapy course may be beneficial for the treatment of facial HZ with intraoral lesions. The implementation of dental preventive measures should be considered for patients with facial HZ. The application of antibiotics and excision of necrotic bone may reduce the abundance of bacteria in lesions and improve wound healing.
Health related quality of life and its predictive factors on cervical cancer patients in two teaching hospitals, Addis Ababa, Ethiopia
Authors: Seyfu Daniel Terefe , Abebe Shiferaw Negash , Haile Sofanit , Ayana Birhanu Abera
Published: April 2024

Background

Cervical cancer is the second most prevalent and the leading cause of cancer related deaths among Ethiopian women; and about three fourth are diagnosed at advanced stages. Cervical cancer can affect the health-related quality of life (HRQOL) in multiple ways. The main aim of this study was to describe the HRQOL of cervical cancer patients and the predictive factors using validated tools.

Methods

Institution based cross-sectional study was conducted among 264 cervical cancer patients using the validated Amharic version of European Organization for Research and Treatment of Cancer (EORTC) modules; QLQ-C30 and QLQ CX24. Descriptive statistics were used to summarize the raw data. One way ANOVA was used to determine the significance of mean differences between the dependent and independent variables. Binary and multivariable regression analysis were used to measure the association between Global Health Status and independent factors. The level of significance was set at p-value < 0.05.

Results

On EORTC QLQ-C30 scales, the mean Global Health Status (GHS) was 42.57 ± 23.31. The least and highest affected functions were physical and social, mean (SD) = 76.39 ± 23.24 and 50.40 ± 32.19, respectively. The financial difficulty was the most affected among the symptom scales, 57.83 ± 35.34. Only physical function and financial difficulty have shown an independent association with GHS, (AOR = 0.21, 95% CI = 0.05–0.84), (AOR = 0.21 95% CI = 0.07–0.59), respectively. Illiterate, can read and write, were among the predictor factors that showed an independent association with the Global Health Status. Among the EORTC QLQ-CX24 symptom scales, the highest affected score was for sexual worry, mean (SD) = 51.81 + 32.197.

Conclusions

In an effort to improve the Global Health Status of cervical cancer patients in Ethiopia; physical function and financial difficulty should be the priority areas. The Illiterate and those who lack formal education need due attention in order to improve the health-related quality-of-life.
Molecular control of cellulosic fin morphogenesis in ascidians
Authors: Lanoizelet Maxence , Elkhoury Youhanna Christel , Roure Agnès , Darras Sébastien
Published: April 2024

Background

The tunicates form a group of filter-feeding marine animals closely related to vertebrates. They share with them a number of features such as a notochord and a dorsal neural tube in the tadpole larvae of ascidians, one of the three groups that make tunicates. However, a number of typical chordate characters have been lost in different branches of tunicates, a diverse and fast-evolving phylum. Consequently, the tunic, a sort of exoskeleton made of extracellular material including cellulose secreted by the epidermis, is the unifying character defining the tunicate phylum. In the larva of ascidians, the tunic differentiates in the tail into a median fin (with dorsal and ventral extended blades) and a caudal fin.

Results

Here we have performed experiments in the ascidian Phallusia mammillata to address the molecular control of tunic 3D morphogenesis. We have demonstrated that the tail epidermis medio-lateral patterning essential for peripheral nervous system specification also controls tunic elongation into fins. More specifically, when tail epidermis midline identity was abolished by BMP signaling inhibition, or CRISPR/Cas9 inactivation of the transcription factor coding genes Msx or Klf1/2/4/17, median fin did not form. We postulated that this genetic program should regulate effectors of tunic secretion. We thus analyzed the expression and regulation in different ascidian species of two genes acquired by horizontal gene transfer (HGT) from bacteria, CesA coding for a cellulose synthase and Gh6 coding for a cellulase. We have uncovered an unexpected dynamic history of these genes in tunicates and high levels of variability in gene expression and regulation among ascidians. Although, in Phallusia, Gh6 has a regionalized expression in the epidermis compatible with an involvement in fin elongation, our functional studies indicate a minor function during caudal fin formation only.

Conclusions

Our study constitutes an important step in the study of the integration of HGT-acquired genes into developmental networks and a cellulose-based morphogenesis of extracellular material in animals.
Real-world performance of indobufen versus aspirin after percutaneous coronary intervention: insights from the ASPIRATION registry
Authors: Dai Chunfeng , Liu Muyin , Yang Zheng , Li Youran , Zhou You , Lu Danbo , Xia Yan , Chen Ao , Li Chenguang , Lu Hao , Dai Yuxiang , Ma Jianying , Chen Zhangwei , Qian Juying , Ge Junbo
Published: April 2024

Background

Indobufen is widely used in patients with aspirin intolerance in East Asia. The OPTION trial launched by our cardiac center examined the performance of indobufen based dual antiplatelet therapy (DAPT) after percutaneous coronary intervention (PCI). However, the vast majority of patients with acute coronary syndrome (ACS) and aspirin intolerance were excluded. We aimed to explore this question in a real-world population.

Methods

Patients enrolled in the ASPIRATION registry were grouped according to the DAPT strategy that they received after PCI. The primary endpoints were major adverse cardiovascular and cerebrovascular events (MACCE) and Bleeding Academic Research Consortium (BARC) type 2, 3, or 5 bleeding. Propensity score matching (PSM) was adopted for confounder adjustment.

Results

A total of 7135 patients were reviewed. After one-year follow-up, the indobufen group was associated with the same risk of MACCE versus the aspirin group after PSM (6.5% vs. 6.5%, hazard ratio [HR] = 0.99, 95% confidence interval [CI] = 0.65 to 1.52, P = 0.978). However, BARC type 2, 3, or 5 bleeding was significantly reduced (3.0% vs. 11.9%, HR = 0.24, 95% CI = 0.15 to 0.40, P < 0.001). These results were generally consistent across different subgroups including aspirin intolerance, except that indobufen appeared to increase the risk of MACCE in patients with ACS.

Conclusions

Indobufen shared the same risk of MACCE but a lower risk of bleeding after PCI versus aspirin from a real-world perspective. Due to the observational nature of the current analysis, future studies are still warranted to further evaluate the efficacy of indobufen based DAPT, especially in patients with ACS.

Trial registration

Chinese Clinical Trial Register (https://www.chictr.org.cn); Number: ChiCTR2300067274.
GLUT4 localisation with the plasma membrane is unaffected by an increase in plasma free fatty acid availability
Authors: Barrett J. S. , Strauss J. A. , Chow L. S. , Shepherd S. O. , Wagenmakers A. J. M. , Wang Y.
Published: April 2024

Background

Insulin-stimulated glucose uptake into skeletal muscle occurs via translocation of GLUT4 from intracellular storage vesicles to the plasma membrane. Elevated free fatty acid (FFA) availability via a lipid infusion reduces glucose disposal, but this occurs in the absence of impaired proximal insulin signalling. Whether GLUT4 localisation to the plasma membrane is subsequently affected by elevated FFA availability is not known.

Methods

Trained (n = 11) and sedentary (n = 10) individuals, matched for age, sex and body mass index, received either a 6 h lipid or glycerol infusion in the setting of a concurrent hyperinsulinaemic-euglycaemic clamp. Sequential muscle biopsies (0, 2 and 6 h) were analysed for GLUT4 membrane localisation and microvesicle size and distribution using immunofluorescence microscopy.

Results

At baseline, trained individuals had more small GLUT4 spots at the plasma membrane, whereas sedentary individuals had larger GLUT4 spots. GLUT4 localisation with the plasma membrane increased at 2 h (P = 0.04) of the hyperinsulinemic-euglycemic clamp, and remained elevated until 6 h, with no differences between groups or infusion type. The number of GLUT4 spots was unchanged at 2 h of infusion. However, from 2 to 6 h there was a decrease in the number of small GLUT4 spots at the plasma membrane (P = 0.047), with no differences between groups or infusion type.

Conclusion

GLUT4 localisation with the plasma membrane increases during a hyperinsulinemic-euglycemic clamp, but this is not altered by elevated FFA availability. GLUT4 appears to disperse from small GLUT4 clusters located at the plasma membrane to support glucose uptake during a hyperinsulinaemic-euglycaemic clamp.