bluuebunny/crossref_metadata_2025 huggingface dataset:
Human endogenous retroviruses and exogenous viral infections
Authors: Bao Chenxuan , Gao Qing , Xiang Huayuan , Shen Yuxuan , Chen Qiaoqiao , Gao Qianqian , Cao Yuanfei , Zhang Mengyu , He Wenyuan , Mao Lingxiang
Published: September 2024

The human genome harbors many endogenous retroviral elements, known as human endogenous retroviruses (HERVs), which have been integrated into the genome during evolution due to infections by exogenous retroviruses. Accounting for up to 8% of the human genome, HERVs are tightly regulated by the host and are implicated in various physiological and pathological processes. Aberrant expression of HERVs has been observed in numerous studies on exogenous viral infections. In this review, we focus on elucidating the potential roles of HERVs during various exogenous viral infections and further discuss their implications in antiviral immunity.
Heterogeneity of the diurnal cycle of precipitation in the Amazon Basin
Authors: Ramírez-Nina Ronald G. , Silva Dias Maria A. F.
Published: September 2024

The diurnal cycle of precipitation in the Amazon Basin (AB) is not homogeneous, varying in its intensity, time of occurrence of precipitation peaks and in the shape of its diurnal distribution. This study presents a seasonal characterization of the mean diurnal cycle of precipitation in the AB from IMERG Final Run (∆x = 0.1° and ∆t = 30 min) database from 2001 to 2020. Diurnal and semi-diurnal oscillations were studied by harmonics analysis, i.e., using the first and second harmonics, respectively. Harmonic metrics of normalized amplitude (AN), phase and mean hourly precipitation rate were analyzed. The AN showed pixels within the AB with bimodal/uniform or unimodal distribution associated with the occurrence of two peaks (or none) or a single peak during the day. The phase of the first harmonic shows the time of occurrence of the precipitation rates peaks, as well as the displacement of the precipitation systems. The regionalization of the diurnal cycle was performed using the K-Means technique, showing that AB presents six clusters along its domain based mainly on the phase of the first harmonic. The spatial configuration of clusters showed seasonal variation, being modulated by the South American Monsoon System and the large-scale mechanisms responsible for triggering convection. However, their intensity, the shape of the diurnal distribution and the timing of precipitation peaks are modulated by local factors.
Integrating cultural perspectives in online ablution water usage monitoring: a design for sustainability
Authors: Ghazali Ihwan , Tanjung Tia , Irianto Irianto , Muhida Riza , Herawan Safarudin Gazali , Asih Hayati Mukti
Published: September 2024

Water is an important resource for performing ablution before prayer. However, lack of communication and information between prayer congregations regarding the amount of water used during ablution, the absence of environmental protection consciousness, and the impact of cultural behavior can be the factors causing wasteful water use during ablution. This study aims to design and implement an internet-based monitoring system that integrates cultural values in evaluating ablution water consumption. The correlation between cultural dimensions and preferences for an online monitoring system of ablution practices was examined using confirmatory factor analysis and structural equation modeling. The results showed that uncertainty avoidance, power distance, and long-term orientation were identified to significantly influence online monitoring preferences for ablution activities. The preferences of sensor accuracy, safety case to cover from water, and durable material were determined as the most important design specifications for online monitoring systems. The real-time evaluation of online monitoring was performed through smartphone applications and web-based interfaces. Considering cultural preferences when developing a water monitoring system strategy can increase awareness regarding environmental sustainability, advocate for conscientious water management, and control water usage. The inclusion of cultural value in the design process is expected to provide valuable insights for product designers when establishing design specifications. Additionally, it expands the usefulness of Hofstede’s cultural theory in the context of the creation and development of products.
Dialect inheritance and youth identity: an online ethnography study on dialect enthusiasts community on the new media platforms
Authors: Mei Zhixing
Published: September 2024

Faced with the decline of dialects, the rise of new media platforms has made young dialect enthusiasts an emerging force in maintaining language diversity. By sharing dialect content online, they enhance the dialect visibility and form a new way of communication, thereby highlighting the link between dialect inheritance and youth identity. To explore multilingual and multicultural dynamics in China amidst globalization, this study adopts the method of online ethnography, conducting interviews and participatory observation within dialect communities on platforms of WeChat and Bilibili. By analyzing the formation, register, and significance of the community, the study reveals that enthusiasts not only directly use and experience dialects online, but also create a special variety of “Internet dialect”. With the leading of pioneers and interrelationship among members, they break the identity barriers and negotiate to construct dialect knowledge, actively promoting the dialect culture within the “virtual acquaintances society”. The discussion underscores the necessity of youth engagement and new media in dialect living inheritance, aligning with but extending current understanding of dialect protection strategies, and points to the potential for the construction of a community with a shared future in cyberspace.
Occlusion of functional high-volume intra-atrial shunts in older patients after embolic stroke of undetermined source
Authors: Schrader Helene , Boldt Leif-Hendrik , Parwani Abdul S. , Blaschke Florian , Wiedenhofer Julia M. , Trippel Tobias D. , Hindricks Gerhard , Starck Christoph , Dreger Henryk , Sherif Mohammad , Primessnig Uwe
Published: September 2024

Background

Intra-atrial shunts are associated with an elevated risk of embolic stroke of undetermined source (ESUS). Percutaneous occluder implantation is recommended as secondary prevention in younger patients. This study aims to compare the outcome after shunt occlusion between younger and older patients with a history of presumed paradox embolism and to evaluate the impact of high-volume shunting in an elderly population.

Methods

We conducted a single-center, retrospective, observational study, involving 187 patients who underwent interventional percutaneous PFO or ASD occlusion at our center between 2013 and 2023.

Results

The mean age of participants was 51.8 ± 11.8 years, with 76 patients aged ≤50 years and 111 patients aged >50 years. Older patients presented more cardiovascular risk factors. The presence of atrial septum aneurysm or large shunting was evenly distributed (ASA 26.3% vs. 28.8%, p = 0.833, mean shunt defect size 6.67 vs. 7.23 mm, p = 0.151). There were no significant differences in procedural or intrahospital complications. The event rate during the 6-month follow-up was low. Recurrence of arterial embolism occurred in 1.6% of the younger and 3.8% of the older patients (p = 0.817). Comparison of high-volume shunts (defect size ≥10 mm or passage ≥20 bubbles during bubble study) with low-volume shunts in this elderly cohort with a mean age ≥50 years showed no significant difference in outcomes. There was a statistically non-significant trend toward a higher rate of residual shunt at the end of the procedure in the high-volume shunt group (2.9% vs. 9.8%, p = 0.0894). This difference was not observed at the 6-month follow-up anymore (14.5 vs. 12.1%, p = 0.628). Two unsuccessful implantation attempts were reported in the high-volume shunt group, while none were observed in the low-volume shunt group (p = 0.372). No intervention-related deaths occurred in this patient cohort during follow-up.

Conclusion

Occlusion of relevant, intra-atrial shunting is a safe and effective option for secondary prevention of cryptogenic embolism in patients over 50 years of age. The beneficial outcome was irrespective of a high-volume shunting before implantation.
Temperature management in acute type A aortic dissection treatment: deep vs. moderate hypothermic circulatory arrest. Is colder better?
Authors: Abdulwahab Hend Abdulwahab Muftah , Kolashov Alish , Haneya Assad , Klump Hannes , Moza Ajay , Arab Mohamad Fateh , Shoaib Mohammed , Zayat Rashad , Khattab Mohammad Amen
Published: September 2024

Introduction

The impact of different degrees of hypothermia in patients undergoing type A aortic dissection (TAAD) repair remains controversial. The purpose of this study was to compare the clinical outcomes of patients who received deep hypothermic circulatory arrest (DHCA) (<20°C) and those of patients who received moderate hypothermic circulatory arrest (MHCA) (20–28°C).

Methods

Between January 2011 and December 2020, 143 patients underwent surgical treatment for TAAD with CA and unilateral antegrade selective cerebral perfusion (uSCP). In this retrospective analysis, we evaluated the clinical outcomes of 143 individuals (103 who received DHCA vs. 40 who received MHCA). The primary outcome was the composite of major events (CMEs) including delirium, acute kidney injury (AKI), and in-hospital mortality. The secondary outcomes were overall mortality, bleeding, rethoracotomy, and length of intensive care unit (ICU) stay, among other things.

Results

Compared with the MHCA group, the DHCA group presented a greater incidence of postoperative complications, as follows: AKI (26 (25.2%) vs. 3 (7.5%), p = 0.020), delirium (23 (22.3%) vs. 2 (5%), p = 0.014), re-exploration rate (21 (20.4%) vs. 2 (5.0%), p = 0.024), and prolonged intensive care unit (ICU) stay (7.8 (4.4, 14.1) vs. 5.7 (2.4, 10) days, p = 0.019). The median cardiopulmonary bypass time (255 (210, 280) vs. 210 (190, 251) min, p = 0.010) and median cross-clamp time (140 (110, 180) vs. 125 (100, 160) min, p = 0.023) were significantly longer in the DHCA group. The German Registry for Acute Aortic Dissection Type A (GERAADA) score was significantly higher in the MHCA group (22.7 ± 9.1 vs. 19 ± 7.2, p = 0.012). The adjusted odds ratio for CME in the MHCA group was 0.78 (95% CI: 0.52–1.17, p = 0.001). The use of MHCA demonstrated a protective effect on reducing postoperative delirium (OR: 0.28, 95% CI: 0.14–0.46, p < 0.01) and postoperative AKI (OR: 0.29, 95% CI: 0.14–0.49, p < 0.01). Overall survival after two years did not differ between the two groups (log-rank, p = 0.16).

Conclusion

The principal findings of our study indicate that DHCA elevates the risk of postoperative AKI and delirium. As a result, the duration of hospitalization and intensive care unit stay was markedly extended. Consequently, MHCA should be favored over DHCA when the clinical circumstances permit, since DHCA remains a secure alternative in intricate dissection instances.
The impact of successful chronic total occlusion percutaneous coronary intervention on clinical outcomes: a tertiary single-center analysis
Authors: Will Maximilian , Schwarz Konstantin , Aufhauser Simone , Leibundgut Gregor , Schmidt Elisabeth , Mayer David , Vock Paul , Borovac Josip A. , Kwok Chun Shing , Lamm Gudrun , Mascherbauer Julia , Weiss Thomas
Published: September 2024

Background

The benefit of chronic total occlusion (CTO)-percutaneous coronary intervention (PCI) is controversial because of a lack of high-quality evidence. We aim to evaluate the impact of CTO-PCI on symptoms, quality of life and mortality.

Methods

We conducted a retrospective single center study of patients with CTO-PCI in a tertiary center in Austria. The study outcomes were Canadian Cardiovascular Society (CCS) angina score, quality of life measured by Seattle Angina Questionnaire (SAQ), and death at median follow up for patients with successful vs. failed CTO-PCI.

Results

A total of 300 patients underwent CTO-PCI for coronary artery disease, of which 252 (84%) were technically successful with median follow up of 3.4 years. There were no significant differences in in-hospital or all-cause mortality, major adverse cardiovascular event, or stent-related complications between the groups of failed and successful CTO-PCI. Among patients with successful CTO-PCI there was a significant improvement in CCS score, which was not found for the group with failed CTO-PCI. Successful reopening was associated with significant benefits of the SAQ domains of angina with stressful activity [3.7 ± 0.9 vs. 3.1 ± 0.5, p = 0.004, use of nitrates (4.7 ± 0.5 vs. 3.0 ± 1.0) p = 0.005] and satisfaction from angina relief (4.4 ± 1.1 vs. 3.6 ± 1.4 p < 0.001).

Conclusion

While there was no significant difference in mortality, successful CTO-PCI was associated with greater reduction in angina and the use of nitrates compared to unsuccessful CTO-PCI.
The mediating role of meaning in work in promoting teachers’ technology integration
Authors: Pambudi Dholina Inang , Suyatno Suyatno , Wantini Wantini , Patimah Lilis , Mardati Asih , Nurfirdaus Nunu
Published: September 2024

Teachers’ integration of technology has been a critical focus for both teachers and researchers over the past three decades. This emphasis has intensified due to the COVID-19 pandemic, where technology integration has become a key factor in the success of classroom teaching and learning processes. Despite this attention, previous studies have shown limited exploration of the relationship between teachers’ technology integration and meaning in work as an internal variable. Therefore, using AMOS-structural equation modeling (SEM) analysis, this study aimed to develop a conceptual model examining the mediating role of meaning in work in the relationship between digital leadership, self-efficacy, and teachers’ technology integration. The study involved 200 junior high school teachers from Balikpapan City, East Kalimantan Province, a region in eastern Indonesia projected to become the new capital. A total of four variables were analyzed in this study: meaning in work, digital leadership, self-efficacy, and teachers’ technology integration (Z, X, and Y, respectively). The results showed that (1) digital leadership affected meaning in work and teachers’ technology integration, (2) self-efficacy affected meaning in work and teachers’ technology integration, (3) meaning in work affected teachers’ technology integration, and (4) meaning in work could mediate the relationship between digital leadership and self-efficacy in teachers’ technology integration. These findings contribute to a deeper understanding of the relationships among digital leadership, self-efficacy, and meaning in work, and their collective impact on teachers’ technology integration. Furthermore, the study highlights the significant role of meaning in work as a mediator in these relationships, providing a foundation for the development of digital leadership strategies and training programs aimed at improving technology integration in education.
Shared diagnostic genes and potential mechanisms between polycystic ovary syndrome and recurrent miscarriage revealed by integrated transcriptomics analysis and machine learning
Authors: He Juanjuan , Liu Ahui , Shen Haofei , Jiang Yanbiao , Gao Min , Yu Liulin , Du Wenjing , Zhang Xuehong , Fu Fen
Published: September 2024

Objective

More and more studies have found that polycystic ovary syndrome (PCOS) is significantly associated with recurrent spontaneous abortion (RSA), but the specific mechanism is not yet clear.

Methods

Based on the GEO database, we downloaded the PCOS (GSE10946, GSE6798 and GSE137684) and RSA (GSE165004, GSE26787 and GSE22490) datasets and performed differential analysis, weighted gene co-expression network (WGCNA), functional enrichment, and machine learning, respectively, on the datasets of the two diseases, Nomogram and integrated bioinformatics analysis such as immune infiltration analysis. Finally, the reliability of the diagnostic gene was verified by external verification and collection of human specimens.

Results

In this study, PCOS and RSA datasets were obtained from Gene Expression Omnibus (GEO) database, and a total of 23 shared genes were obtained by differential analysis and WGCNA analysis. GO results showed that the shared genes were mainly enriched in the functions of lipid catabolism and cell cycle transition (G1/S). DO enrichment revealed that shared genes are mainly involved in ovarian diseases, lipid metabolism disorders and psychological disorders. KEGG analysis showed significant enrichment of Regulation of lipolysis in adipocytes, Prolactin signaling pathway, FoxO signaling pathway, Hippo signaling pathway and other pathways. A diagnostic gene FAM166 B was obtained by machine learning and Nomogram screening, which mainly played an important role in Cellular component. GSEA analysis revealed that FAM166B may be involved in the development of PCOS and RSA by regulating the cell cycle, amino acid metabolism, lipid metabolism, and carbohydrate metabolism. CIBERSORT analysis showed that the high expression of FAM166 B was closely related to the imbalance of multiple immune cells. Further verification by qPCR suggested that FAM166 B could be used as a common marker of PCOS and RSA.

Conclusions

In summary, this study identified FAM166B as a common biomarker for PCOS and RSA, and conducted in-depth research and analysis of this gene, providing new data for basic experimental research and early prognosis, diagnosis and treatment of clinical diseases.
Effects of aquatic and land high-intensity interval trainings on selected bio- and physiological variables among obese adolescents
Authors: Liao Ting , Zheng Chuanbo , Xue Jungang , Wang Yong “Tai”
Published: September 2024

Background

Obesity among adolescents have become a global public health problem. Exercises can effectively improve the bio-physiological factors of obese adolescents. High-intensive interval training (HIIT) has been applied to obese adolescents. Studies have reported that the Aquatic environment may bring the same or more positive exercise effects as the land environment. Therefore, the purpose of this study was to examine the effects of aquatic and land interventions on selected bio-and physiological variables among obese adolescences.

Methods

Twenty-eight obese adolescents who met the requirements participated in and completed this study. The participants were randomly assigned to Aquatic HIIT group (n=17) or Land HIIT group (n=11) for a four-week exercise intervention, 3 time/week. Each Intervention program was one-hour long, including 20 minutes of warm-up, 30 minutes of HIIT and 10 minutes of stretching and relaxation. Bio- and physiological variables including Anthropometry and body composition, Physical Function and blood pressure, and Lipid metabolism indexes were collected before and after the Aquatic and Land interventions.

Results

After four weeks of exercise interventions, the body mass, BMI, body fat rate, waist circumference, hip circumference and body water content were significantly reduced (p<0.05), and the lean body mass were significantly increased (p<0.05) in both groups. Both group exhibited significant effects in decreasing, systolic blood pressure (p<0.05), diastolic blood pressure (p<0.01), and increasing vital capacity and total energy consumption (p<0.05). The Aquatic HIIT group showed significant effects on reducing Rest heart rate (p<0.05), but no significant changes in Rest heart rate in Land HIIT group (p=0.364). The low-density lipoprotein cholesterol in both groups was significantly decreased (p<0.05). Moreover, the Aquatic HIIT group had significant better improvements (p<0.05) in lean body mass, waist circumference, waist-to-hip ratio, vital capacity and total energy consumption than Land HIIT group did.

Conclusions

The results of the present study demonstrated that in a short-term (4 weeks) both Aquatic and Land HIIT interventions may improve the body composition, physical function, blood pressure and low-density lipoprotein cholesterol (LDL-C) of overweight and obese adolescents. Furthermore, the Aquatic HIIT may be superior than the Land HIIT in weight control among the obese adolescents.
Associations between cardiovascular health and low thyroid function among US adults: a population-based study
Authors: Fang Xiaoxiao , Hu Rui , Fei Shani , Ding Zhiguo , Zhao Jiuli , Shang Jianwei
Published: September 2024

Background

Higher thyroid-stimulating hormone (TSH) amidst normal thyroid hormone (TH) levels may contribute to a negative impact on cardiovascular health (CVH). We sought to probe the associations between Life’s Essential 8 (LE8), a newly revised CVH evaluation, and low thyroid function among US adults.

Methods

The datasets from the 2007-2012 National Health and Nutrition Examination Survey (NHANES) were applied to the study. Low-normal thyroid function and subclinical hypothyroidism (SCH) were both regarded to be low thyroid function. Multivariable logistic regressions were utilized to inquire about the relationship between LE8 and low thyroid function.

Results

Among the 6,315 participants (age ≥20 years), 1,375 (21.77%) were ascertained to be low thyroid function. After adjusting possible confounders, a higher LE8 score was linked to a lower probability of experiencing low thyroid function (Odds ratio [OR] for each 10-point increase: 0.923 [95% CI, 0.884-0.964]). A similar correlation was found between the health factors score and low thyroid function (OR for each 10-point increase: 0.905 [95% CI, 0.876-0.935]). Also, scoring better on physical activity (PA), body mass index (BMI), blood lipid, blood glucose (BG), and blood pressure (BP) may be conducive to reducing the rates of low thyroid function. Furthermore, subgroup and sensitivity analyses indicated that the negative correlations were generally robust.

Conclusions

The LE8 score and health factors score were nonlinearly and negatively related to the prevalence concerning low thyroid function. Promoting the regulation of optimum CVH levels could work on mitigating the load of low thyroid function and cardiovascular diseases (CVDs).
The gut microbiota changed by ketogenic diets contribute to glucose intolerance rather than lipid accumulation
Authors: Li Wei , Gong Mengxue , Wang Zhiyi , Pan Han , Li Yue , Zhang Chenhong
Published: September 2024

The ketogenic diet (KD) is a popular option for managing body weight, though its influence on glucose and lipid metabolism was still inconclusive. Gut microbiota is modulated by dietary pattens and has been associated with the changes of metabolic homeostasis induced by KD. Here, we found that two types of KDs, KD1 (8.8% carbohydrate, 73.4% fat, 17.9% protein, 5.7 kcal/g) and KD2 (0.4% carbohydrate, 93.2% fat, 6.4% protein, 6.7 kcal/g), induced changes of gut microbiota and its metabolites, contributing to glucose intolerance but not lipid accumulation in mice. Following a 2-week intervention with KDs, mice fed on KD1 displayed symptoms related to obesity, whereas KD2-fed mice exhibited a decrease in body weight but had severe hepatic lipid accumulation and abnormal fatty acid metabolism, while both KDs led to significant glucose intolerance. Compared to the mice fed on a standard chow diet, the conventional mice fed on both KD1 and KD2 had significant shifted gut microbiota, lower levels of short chain fatty acids (SCFAs) and composition alteration of cecal bile acids. By using an antibiotic cocktail (ABX) to deplete most of the gut microbiota in mice, we found the disturbances induced by KDs in lipid metabolism were similar in the ABX-treated mice to their conventional companions, but the disturbances in glucose metabolism were absent in the ABX-treated mice. In conclusion, these findings suggest that ketogenic diets disrupted glucose and lipid metabolism, at least in mice, and highlight the gut microbial culprits associated with KD induced glucose intolerance rather than lipid accumulation.
Dietary supplements in polycystic ovary syndrome–current evidence
Authors: Han Ya , Hou Ye , Han Qimao , Yuan Xingxing , Chen Lu
Published: September 2024

Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder in women of reproductive age, and presents a significant challenge to the global population. This review provides comprehensive evidence of interventions, including food and dietary supplements, aimed at reversing PCOS and improving fertility outcomes. Various dietary supplements are known to cause metabolic changes and hormonal regulation and have a potential impact on increasing pregnancy rates. Although some biochemical alterations have been observed, these metabolic changes do not directly reverse the disorder. Moreover, the lack of sufficient evidence does not convince clinicians to standardize dietary supplements as alternatives to medical or pharmacological interventions. This calls for a study of women with PCOS taking dietary supplements. In addition, unbiased studies of combinations of treatment options for supplements, including large cohort clinical trials, will lead to evidence-based medicine.
The effect of window proportions in low-rise residential buildings on annual energy consumption in humid temperate climate (case study: Rasht city in Iran)
Authors: Bagheri Sara , Moradinasab Hossien , Yeganeh Mansour
Published: September 2024

The proportions of exterior windows in low-rise residential buildings are crucial for optimizing energy consumption. This study investigates and optimizes these proportions for buildings in the temperate climate of Rasht City, Iran. A building was simulated in DesignBuilder software to explore how different window-to-wall ratios affect energy consumption. Using a parametric algorithm, the percentage of windows on each building facade was varied from 10% to 100%, and heating, cooling, and lighting loads were calculated. The results revealed that optimizing window proportions can significantly reduce annual energy consumption. For the north-facing facade, the optimal window-to-wall ratio is between 26% and 33%. On the south side, the most efficient window proportion is 21%–25%, resulting in the lowest energy consumption of 2,102 kWh/m2 per year. The optimal window proportions for the east and west facades are 54%–57%, and 58%, respectively. The study found a strong correlation between energy consumption and the window-to-wall ratio for the south-facing facade, with a correlation coefficient of 0.97. For the north, east, and west facades, the correlation coefficients are 0.72, 0.17, and 0.33, respectively. These findings can predict energy consumption for residential buildings in Rasht and similar climates. Optimizing window proportions is an effective strategy to reduce energy use and enhance residents’ quality of life, applicable to both new constructions and renovations of existing buildings.
The impact of carbon emission trading policy on regional total factor productivity
Authors: Wen Xin , Meng Fange
Published: September 2024

With the global focus on climate and environmental issues, green and low-carbon development has become an important way to promote efficiency. However, more research is needed on whether the pilot carbon emissions trading policy can promote economic development while reducing emissions. The panel data of 30 regions in China from 2005 to 2020 are used to examine the impact of carbon emission trading policy on regional total factor productivity. The findings demonstrate that, while the carbon emissions trading pilot policy can enhance total factor productivity, its impact varies across regions. Notably, the policy fosters TFP growth in Beijing and Tianjin but hampers it in Hubei and Guangdong provinces, signifying regional heterogeneity in its effects. These results remain robust even after conducting placebo tests and DID model. Furthermore, the mechanism study reveals that the carbon emissions trading pilot policy affects total factor productivity through pure technical efficiency and scale effects. Given the more stringent environmental regulations brought by the “carbon neutrality” goal, understanding the impact of carbon emissions trading policies on total factor productivity lays the groundwork for establishing a national carbon emissions trading market. This promotes sustainable economic development by helping to achieve a win-win situation between environmental protection and economic growth.
Genetic architecture of kernel-related traits in sweet and waxy maize revealed by genome-wide association analysis
Authors: Qu Jingtao , Yu Diansi , Gu Wei , Khalid Muhammad Hayder Bin , Kuang Huiyun , Dang Dongdong , Wang Hui , Prasanna Boddupalli , Zhang Xuecai , Zhang Ao , Zheng Hongjian , Guan Yuan
Published: September 2024

Introduction

Maize (Zea mays L.) is one of the most important crops worldwide, the kernel size-related traits are the major components of maize grain yield.

Methods

To dissect the genetic architecture of four kernel-related traits of 100-kernel weight, kernel length, kernel width, and kernel diameter, a genome-wide association study (GWAS) was conducted in the waxy and sweet maize panel comprising of 447 maize inbred lines re-sequenced at the 5× coverage depth. GWAS analysis was carried out with the mixed linear model using 1,684,029 high-quality SNP markers.

Results

In total, 49 SNPs significantly associated with the four kernel-related traits were identified, including 46 SNPs on chromosome 3, two SNPs on chromosome 4, and one SNP on chromosome 7. Haplotype regression analysis identified 338 haplotypes that significantly affected these four kernel-related traits. Genomic selection (GS) results revealed that a set of 10,000 SNPs and a training population size of 30% are sufficient for the application of GS in waxy and sweet maize breeding for kernel weight and kernel size. Forty candidate genes associated with the four kernel-related traits were identified, including both Zm00001d000707 and Zm00001d044139 expressed in the kernel development tissues and stages with unknown functions.

Discussion

These significant SNPs and important haplotypes provide valuable information for developing functional markers for the implementation of marker-assisted selection in breeding. The molecular mechanism of Zm00001d000707 and Zm00001d044139 regulating these kernel-related traits needs to be investigated further.
Human complex mixture analysis by “FD Multi-SNP Mixture Kit”
Authors: Chen Anqi , Li Lun , Zhou Junfei , Li Tiantian , Yuan Chunyan , Peng Hai , Li Chengtao , Zhang Suhua
Published: September 2024

Introduction

Multiple linked single nucleotide polymorphisms (SNPs) have shown potential in personal identification and mixture detection. However, the limited number of marker and sequencing errors have obstructed accurate DNA typing.

Methods

To develop more candidate loci, the diversity value (D-value) was introduced as a new parameter for screening the novel polymorphic multiple linked-SNP markers, referred to as multi-SNP. In this study, a “FD Multi-SNP Mixture Kit” comprising 567 multi-SNPs was developed for mixture detection. Additionally, a new computational error correction method was applied as a quality control approach for sequencing data.

Results

The results demonstrated higher typing success rates than the conventional CE typing method. For single-source DNA, approximately 70–80 loci were detected with a DNA input of 0.009765625 ng. More than 65% of the minor alleles were distinguishable at 1 ng DNA with a frequency of 0.5% in 2- to 4-person mixtures.

Conclusion

This study offers a polymorphic and high-resolution detection method for DNA genotyping and complex mixture detection, providing an alternative strategy for addressing challenging mixed DNA traces.
Multi-omic analysis of longitudinal acute myeloid leukemia patient samples reveals potential prognostic markers linked to disease progression
Authors: Ahmed Nisar , Cavattoni Irene , Villiers William , Cugno Chiara , Deola Sara , Mifsud Borbala
Published: September 2024

Relapse remains a determinant of treatment failure and contributes significantly to mortality in acute myeloid leukemia (AML) patients. Despite efforts to understand AML progression and relapse mechanisms, findings on acquired gene mutations in relapse vary, suggesting inherent genetic heterogeneity and emphasizing the role of epigenetic modifications. We conducted a multi-omic analysis using Omni-C, ATAC-seq, and RNA-seq on longitudinal samples from two adult AML patients at diagnosis and relapse. Herein, we characterized genetic and epigenetic changes in AML progression to elucidate the underlying mechanisms of relapse. Differential interaction analysis showed significant 3D chromatin landscape reorganization between relapse and diagnosis samples. Comparing global open chromatin profiles revealed that relapse samples had significantly fewer accessible chromatin regions than diagnosis samples. In addition, we discovered that relapse-related upregulation was achieved either by forming new active enhancer contacts or by losing interactions with poised enhancers/potential silencers. Altogether, our study highlights the impact of genetic and epigenetic changes on AML progression, underlining the importance of multi-omic approaches in understanding disease relapse mechanisms and guiding potential therapeutic interventions.
Overhead fisheye cameras for indoor monitoring: challenges and recent progress
Authors: Konrad Janusz , Cokbas Mertcan , Tezcan M. Ozan , Ishwar Prakash
Published: September 2024

Monitoring the number of people in various spaces of a building is important for optimizing space usage, assisting with public safety, and saving energy. Diverse approaches have been developed for different end goals, from ID card readers for space management, to surveillance cameras for security, to CO2 sensing for HVAC control. In the last few years, fisheye cameras mounted overhead have become the sensing modality of choice because they offer large-area coverage and significantly-reduced occlusions but research efforts are still nascent. In this paper, we provide an overview of recent research efforts in this area and propose one new direction. First, we identify benefits and challenges related to inference from top-view fisheye images, and summarize key public datasets. Then, we review efforts in algorithm development for detecting people from a single fisheye frame and from a group of sequential frames. Finally, we focus on counting people indoors. While this is straightforward for a single camera, when multiple cameras are used to monitor a space, person re-identification is needed to avoid overcounting. We describe a framework for people counting using two cameras and demonstrate its effectiveness in a large classroom for location-based person re-identification. To support people counting in even larger spaces, we propose two new person re-identification algorithms using N > 2 overhead fisheye cameras. We provide ample experimental results throughout the paper.
Dietary intakes and nutritional issues in inborn errors of immunity: a systematic review
Authors: Freer Macey , Bhatia Rani , Preece Kahn , Pursey Kirrilly M.
Published: September 2024

Introduction

Inborn errors of immunity (IEI) are characterized by an inherited dysregulation or absence of immune system components that can manifest clinically in complications that predispose an individual to feeding difficulties or impaired swallowing, digestion, and absorption. Treatment side-effects or altered requirements may further impair nutritional status. While adequate nutrition is necessary for optimal growth and immune function, little is known about nutritional intakes in IEI, and best practice nutrition guidelines are limited. This review aimed to synthesize current evidence on the dietary intakes, anthropometry and nutritional biochemistry in individuals with an IEI.

Methods

A systematic review of literature published from database inception to March 2023 was conducted in accordance with the PRISMA guidelines. Articles eligible for inclusion reported anthropometric, biochemical, or dietary intake-related measures in pediatric or adult patients with a diagnosed IEI. Identified articles were screened for eligibility; data was synthesized descriptively.

Results

A total of 4488 studies were retrieved of which 34 were included. Across studies, 2894 IEI individuals were included (age range 4 weeks to 83y), predominantly focusing on ataxia telangiectasia (AT) and common variable immunodeficiency (CVID). A significant association between inadequate energy intakes and IEI was identified (n=6 studies); however, there was significant variability in adequacy of macro- and micronutrients across studies. Patients with IEI were at risk of malnutrition (range 30% to 70%); although anthropometric assessment measures were not consistent across studies. Biochemical assessments found patients were also at risk of micronutrient deficiencies including vitamin D.

Discussion

This review identified few studies assessing dietary intakes, anthropometry and nutritional biochemistry in patients with IEI, with considerable heterogeneity across studies. Future longitudinal studies using consistent validated dietary assessment tools and anthropometric measures in diverse IEI patient populations are needed. This review reinforces the need for dietetic input in people with an IEI and the development evidence-based clinical practice guidelines for people with an IEI.

Systematic review registration

https://www.crd.york.ac.uk/PROSPERO, identifier CRD42023412365.
Development of human innate immune responses in a humanized mouse model expressing four human myelopoiesis transgenes
Authors: Stocks Hannah , De Leeuw Elisabeth , Lambrecht Bart N. , Vandekerckhove Linos , van Loo Geert , Wullaert Andy
Published: September 2024

Background

Dysregulated innate immune responses underlie multiple inflammatory diseases, but clinical translation of preclinical innate immunity research in mice is hampered by the difficulty of studying human inflammatory reactions in an in vivo context. We therefore sought to establish in vivo human inflammatory responses in NSG-QUAD mice that express four human myelopoiesis transgenes to improve engraftment of a human innate immune system.

Methods

We reconstituted NSG-QUAD mice with human hematopoietic stem and progenitor cells (HSPCs), after which we evaluated human myeloid cell development and subsequent human responses to systemic and local lipopolysaccharide (LPS) challenges.

Results

NSG-QUAD mice already displayed engraftment of human monocytes, dendritic cells and granulocytes in peripheral blood, spleen and liver at 6 weeks after HSPC reconstitution, in which both classical, intermediate and non-classical monocytes were present. These huNSG-QUAD mice responded to intraperitoneal and intranasal LPS challenges with production of NF-κB-dependent human cytokines, a human type I interferon response, as well as inflammasome-mediated production of human IL-1β and IL-18. The latter were specifically abrogated by the NLRP3 inhibitor MCC950, while LPS-induced human monocyte death was not altered. Besides providing proof-of-principle for small molecule testing of human inflammatory reactions in huNSG-QUAD mice, this observation suggests that LPS-induced in vivo release of human NLRP3 inflammasome-generated cytokines occurs in a cell death-independent manner.

Conclusion

HuNSG-QUAD mice are competent for the NF-κB, interferon and inflammasome effectors of human innate immunity, and can thus be utilized to investigate signaling mechanisms and pharmacological targeting of human inflammatory responses in an in vivo setting.
Dysregulated C1q and CD47 in the aging monkey brain: association with myelin damage, microglia reactivity, and cognitive decline
Authors: DeVries Sarah A. , Dimovasili Christina , Medalla Maria , Moore Tara L. , Rosene Douglas L.
Published: September 2024

Normal aging, though lacking widespread neurodegeneration, is nevertheless characterized by cognitive impairment in learning, memory, and executive function. The aged brain is spared from neuron loss, but white matter is lost and damage to myelin sheaths accumulates. This myelin damage is strongly associated with cognitive impairment. Although the cause of the myelin damage is not known, microglia dysregulation is a likely contributor. Immunologic proteins interact with microglial receptors to modulate microglia-mediated phagocytosis, which mediates myelin damage clearance and turn-over. Two such proteins, “eat me” signal C1q and “don’t eat me” signal CD47, act in opposition with microglia. Both C1q and CD47 have been implicated in Multiple Sclerosis, a demyelinating disease, but whether they play a role in age-related myelin pathology is currently unknown. The present study investigates C1q and CD47 in relation to age-related myelin degeneration using multilabel immunofluorescence, RNAscope, and confocal microscopy in the cingulum bundle of male and female rhesus monkeys across the lifespan. Our findings showed significant age-related elevation in C1q localized to myelin basic protein, and this increase is associated with more severe cognitive impairment. In contrast, CD47 localization to myelin decreased in middle age and oligodendrocyte expression of CD47 RNA decreased with age. Lastly, microglia reactivity increased with age in association with the changes in C1q and CD47. Together, these results suggest disruption in the balance of “eat me” and “don’t eat me” signals during normal aging, biasing microglia toward increased reactivity and phagocytosis of myelin, resulting in cognitive deficits.
The influence of CRS and ICANS on the efficacy of anti-CD19 CAR-T treatment for B-cell acute lymphoblastic leukemia
Authors: Ma Yuhan , Zhou Hongyuan , Zhang Jiaoli , Zhang Qing , Li Yujie , Xie Ruiyang , Zhang Bingpei , Shen Ziyuan , Li Ping , Liang Aibin , Zhou Keshu , Han Lu , Hu Yongxian , Xu Kailin , Sang Wei , Wang Xiangmin
Published: September 2024

Background

Chimeric antigen receptor T-cell (CAR-T) therapy has offered new opportunities for patients with relapsed/refractory B-cell lymphoblastic leukemia (r/r B-ALL). However, cytokine release syndrome (CRS) and immune effector cell–associated neurotoxicity syndrome (ICANS) are the two most common toxicities following CAR-T cell therapy. At present, whether the occurrence of CRS and ICANS will impact CAR-T activity remains unknown; this affects the therapeutic efficacy of CAR-T.

Methods

In this multicenter retrospective study, we enrolled 93 patients with r/r B-ALL receiving anti-CD19 CAR-T cell therapy at four medical centers. We evaluated their complete response (CR) rates, minimal residual disease (MRD)-negative CR rates, and survival outcomes.

Results

Among the included patients, 76 (81.7%) developed CRS and 16 (5.3%) developed ICANS. Fifteen patients experienced concurrent CRS and ICANS. However, no significant differences were noted in CR or MRD-negative CR rates between patients with and without CRS/ICANS. Furthermore, no significant difference was noted in leukemia-free survival (LFS) (p = 0.869 for CRS and p = 0.276 for ICANS) or overall survival (OS) (p = 0.677 for CRS and p = 0.326 for ICANS) between patients with and without CRS/ICANS. Similarly, patients with concurrent CRS and ICANS exhibited no differences in OS and LFS when compared with other patients. Multivariate analysis showed that the development of CRS and ICANS was not associated with any difference in OS and LFS.

Conclusion

Patients with CRS/ICANS experience similar clinical outcomes compared with those without CRS/ICANS following anti-CD19 CAR-T therapy.
Seroprevalence of binding and neutralizing antibodies against 18 adeno-associated virus types in patients with neuromuscular disorders
Authors: Wang Xiaoyan , Klann Patrick Julian , Wiedtke Ellen , Sano Yumi , Fischer Nico , Schiller Lisa , Elfert Anna , Güttsches Anne-Katrin , Weyen Ute , Grimm Dirk , Vorgerd Matthias , Bayer Wibke
Published: September 2024

High levels of pre-existing antibodies are a major challenge for the application of viral vectors since they can severely limit their efficacy. To identify promising candidates among adeno-associated virus (AAV) based vectors for future gene therapies for the treatment of hereditary neuromuscular disorders (NMDs), we investigated the antibody levels in sera from patients with NMDs against 18 AAV types, including 11 AAVs with wild-type capsids, 5 AAVs with peptide-modified capsids and 2 AAVs with shuffled capsids. With regard to the wild-type capsid AAVs, the lowest binding antibody levels were detected against AAV6, AAV5, AAV12 and AAV9, whereas the highest binding antibody levels were detected against AAV10, AAV8, AAV1, and AAV2. The lowest neutralizing antibody levels against wild-type AAVs were detected against AAV12, AAV5, AAV9, AAV7, AAV8 and AAV10, and the highest neutralizing antibody levels were detected against AAV13, AAV2 and AAV3. Interestingly, the influence of peptide modifications or shuffling of AAV capsids on antibody binding and AAV neutralization seemed to depend on the parental AAV. While the sex of the serum donors had no significant impact on binding or neutralizing antibody levels, we observed a trend to higher binding antibodies in older serum donors against some AAV types and a clear positive correlation of neutralizing antibody titers with the age of the serum donors. The disease status on the other hand did not have a meaningful impact on antibody levels, with no changes in AAV neutralization. Our data indicate that several wild-type or peptide-modified AAV may be good candidates for therapeutic application due to low pre-existing antibody levels, and that the age of potential recipients rather than their health status with regard to NMDs has the biggest impact on vector applicability.
Biomarkers of lymph node metastasis in esophageal cancer
Authors: Wu Ningzi , Cai Junlan , Jiang Junfei , Lin Ye , Wang Xiaoqing , Zhang Weiguang , Kang Mingqiang , Zhang Peipei
Published: September 2024

Esophageal cancer (EC) is among the most aggressive malignancies, ranking as the seventh most prevalent malignant tumor worldwide. Lymph node metastasis (LNM) indicates localized spread of cancer and often correlates with a poorer prognosis, emphasizing the necessity for neoadjuvant systemic therapy before surgery. However, accurate identification of LNM in EC presents challenges due to the lack of satisfactory diagnostic techniques. Imaging techniques, including ultrasound and computerized tomography scans, have low sensitivity and accuracy in assessing LNM. Additionally, the existing serological detection lacks precise biomarkers. The intricate and not fully understood molecular processes involved in LNM of EC contribute to current detective limitations. Recent research has shown potential in using various molecules, circulating tumor cells (CTCs), and changes in the microbiota to identify LNM in individuals with EC. Through summarizing potential biomarkers associated with LNM in EC and organizing the underlying mechanisms involved, this review aims to provide insights that facilitate biomarker development, enhance our understanding of the underlying mechanisms, and ultimately address the diagnostic challenges of LNM in clinical practice.