bluuebunny/crossref_metadata_2025 huggingface dataset:
Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience
Authors: Barnoy Sivia , Dagan Efrat , Kim Sue , Caiata-Zufferey Maria , Katapodi Maria C. ,   the CASCADE,   the K-CASCADE Consortia
Published: May 2023

Background:Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel.

Methods:A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort.

Results:Analyses focused on models of accessing genetic services (clinic-based versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing.

Conclusion:The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage.
Identifying genetic variants associated with amphotericin B (AMB) resistance in Aspergillus fumigatus via k-mer-based GWAS
Authors: Chen Meng-Meng , Shi Guo-Hui , Dai Yi , Fang Wen-Xia , Wu Qi
Published: May 2023

Aspergillus fumigatus is one of the most common pathogenic fungi, which results in high morbidity and mortality in immunocompromised patients. Amphotericin B (AMB) is used as the core drug for the treatment of triazole-resistant A. fumigatus. Following the usage of amphotericin B drugs, the number of amphotericin B-resistant A. fumigatus isolates showed an increasing trend over the years, but the mechanism and mutations associated with amphotericin B sensitivity are not fully understood. In this study, we performed a k-mer-based genome-wide association study (GWAS) in 98 A. fumigatus isolates from public databases. Associations identified with k-mers not only recapitulate those with SNPs but also discover new associations with insertion/deletion (indel). Compared to SNP sites, the indel showed a stronger association with amphotericin B resistance, and a significant correlated indel is present in the exon region of AFUA_7G05160, encoding a fumarylacetoacetate hydrolase (FAH) family protein. Enrichment analysis revealed sphingolipid synthesis and transmembrane transport may be related to the resistance of A. fumigatus to amphotericin B. The expansion of variant types detected by the k-mer method increases opportunities to identify and exploit complex genetic variants that drive amphotericin B resistance, and these candidate variants help accelerate the selection of prospective gene markers for amphotericin B resistance screening in A. fumigatus.
A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
Authors: Ding Leilei , Zhang Duoduo , Yao Fengxia , Luo Min , Deng Shan , Tian Qinjie
Published: May 2023

Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario.

Methods: This study is a retrospective analysis of CAIS cases in a three-generation pedigree. The patients’ genomes were determined by sequencing the androgen receptor (AR) gene. The clinical data of the patients, including manifestations, hormone levels, and AR variants, were analyzed.

Results: Sixteen people in this family were involved. A deletion variant (c.1847_1849del; p. Arg616del) was identified in exon 3 of AR, which encodes the DNA binding domain. Until now, four patients and four carriers have been identified in three generations of this family. All the patients live as female, and one has developed gonadal malignancy.

Conclusion: The present study identified a deletion variant in three generations of a family with CAIS, including four carriers and four patients. This study verified the genetic pattern and the corresponding clinical characteristics of CAIS. Furthermore, a case with gonadal malignancy was discovered. The information on diagnosis and treatment in this pedigree is useful for prenatal diagnosis and genetic counseling of similar families.
iTCep: a deep learning framework for identification of T cell epitopes by harnessing fusion features
Authors: Zhang Yu , Jian Xingxing , Xu Linfeng , Zhao Jingjing , Lu Manman , Lin Yong , Xie Lu
Published: May 2023

Neoantigens recognized by cytotoxic T cells are effective targets for tumor-specific immune responses for personalized cancer immunotherapy. Quite a few neoantigen identification pipelines and computational strategies have been developed to improve the accuracy of the peptide selection process. However, these methods mainly consider the neoantigen end and ignore the interaction between peptide-TCR and the preference of each residue in TCRs, resulting in the filtered peptides often fail to truly elicit an immune response. Here, we propose a novel encoding approach for peptide-TCR representation. Subsequently, a deep learning framework, namely iTCep, was developed to predict the interactions between peptides and TCRs using fusion features derived from a feature-level fusion strategy. The iTCep achieved high predictive performance with AUC up to 0.96 on the testing dataset and above 0.86 on independent datasets, presenting better prediction performance compared with other predictors. Our results provided strong evidence that model iTCep can be a reliable and robust method for predicting TCR binding specificities of given antigen peptides. One can access the iTCep through a user-friendly web server at http://biostatistics.online/iTCep/, which supports prediction modes of peptide-TCR pairs and peptide-only. A stand-alone software program for T cell epitope prediction is also available for convenient installing at https://github.com/kbvstmd/iTCep/.
Genome-wide association study for carcass weight in pasture-finished beef cattle in Hawai’i
Authors: Adhikari Mandeep , Kantar Michael B. , Longman Ryan J. , Lee C. N. , Oshiro Melelani , Caires Kyle , He Yanghua
Published: May 2023

Introduction: Genome-wide association studies (GWAS) have identified genetic markers for cattle production and reproduction traits. Several publications have reported Single Nucleotide Polymorphisms (SNPs) for carcass-related traits in cattle, but these studies were rarely conducted in pasture-finished beef cattle. Hawai’i, however, has a diverse climate, and 100% of its beef cattle are pasture-fed.

Methods: Blood samples were collected from 400 cattle raised in Hawai’i islands at the commercial harvest facility. Genomic DNA was isolated, and 352 high-quality samples were genotyped using the Neogen GGP Bovine 100 K BeadChip. SNPs that did not meet the quality control standards were removed using PLINK 1.9, and 85 k high-quality SNPs from 351 cattle were used for association mapping with carcass weight using GAPIT (Version 3.0) in R 4.2. Four models were used for the GWAS analysis: General Linear Model (GLM), the Mixed Linear Model (MLM), the Fixed and Random Model Circulating Probability Unification (FarmCPU), the Bayesian-Information and Linkage-Disequilibrium Iteratively Nested Keyway (BLINK).

Results and Discussion: Our results indicated that the two multi-locus models, FarmCPU and BLINK, outperformed single-locus models, GLM and MLM, in beef herds in this study. Specifically, five significant SNPs were identified using FarmCPU, while BLINK and GLM each identified the other three. Also, three of these eleven SNPs (“BTA-40510-no-rs”, “BovineHD1400006853”, and “BovineHD2100020346”) were shared by multiple models. The significant SNPs were mapped to genes such as EIF5, RGS20, TCEA1, LYPLA1, and MRPL15, which were previously reported to be associated with carcass-related traits, growth, and feed intake in several tropical cattle breeds. This confirms that the genes identified in this study could be candidate genes for carcass weight in pasture-fed beef cattle and can be selected for further breeding programs to improve the carcass yield and productivity of pasture-finished beef cattle in Hawai’i and beyond.
CircRNAs in osteoarthritis: research status and prospect
Authors: Li Zhuang , Lu Jun
Published: May 2023

Osteoarthritis (OA) is the most common joint disease globally, and its progression is irreversible. The mechanism of osteoarthritis is not fully understood. Research on the molecular biological mechanism of OA is deepening, among which epigenetics, especially noncoding RNA, is an emerging hotspot. CircRNA is a unique circular noncoding RNA not degraded by RNase R, so it is a possible clinical target and biomarker. Many studies have found that circRNAs play an essential role in the progression of OA, including extracellular matrix metabolism, autophagy, apoptosis, the proliferation of chondrocytes, inflammation, oxidative stress, cartilage development, and chondrogenic differentiation. Differential expression of circRNAs was also observed in the synovium and subchondral bone in the OA joint. In terms of mechanism, existing studies have mainly found that circRNA adsorbs miRNA through the ceRNA mechanism, and a few studies have found that circRNA can serve as a scaffold for protein reactions. In terms of clinical transformation, circRNAs are considered promising biomarkers, but no large cohort has tested their diagnostic value. Meanwhile, some studies have used circRNAs loaded in extracellular vesicles for OA precision medicine. However, there are still many problems to be solved in the research, such as the role of circRNA in different OA stages or OA subtypes, the construction of animal models of circRNA knockout, and more research on the mechanism of circRNA. In general, circRNAs have a regulatory role in OA and have particular clinical potential, but further studies are needed in the future.
Comparative transcriptome analysis provides insights into molecular pathway and genes associated with head-type formation and phenotypic divergence in Chinese cabbage
Authors: Meng Chuan , Liu Xiaodong , Wu Fang , Ma Lei , Wang Yuhai , Mu Jingui , Wang Mingqiu
Published: May 2023

Background: The heading type of Chinese cabbage is a significant commercial trait with high economic value. At present, research on the phenotypic divergence and formation mechanism of heading type is limited.

Results: Through comparative-transcriptome analysis, the formation and phenotypic divergence mechanism of the leafy head of diploid overlapping type cabbage, diploid outward-curling type cabbage, tetraploid overlapping type cabbage, and tetraploid outward-curling type cabbage were systematically and comprehensively investigated, and the phenotype-specific genes of four varieties were revealed. These phenotype-specific differentially expressed genes (DEGs) were considered crucial for cabbage heading type through WGCNA. Some transcription factors have been predicted as significant genes for phenotypic divergence, including the members of the bHLH, AP2/ERF-ERF, WRKY, MYB, NAC, and C2CH2 families. Phytohormone-related genes, including abscisic acid/auxin hormone, may play an important role in the phenotypic divergence of head type in cabbage.

Conclusion: Comparative-transcriptome analysis supports a role for phytohormone-related genes and some transcription factors in head-type formation and divergence for four cultivars. These findings increase our understanding of the molecular basis for pattern formation and divergence of the leafy heads of Chinese cabbage and will contribute to developing more desirable leafy head patterns.
Identification and characterization of circular RNA in the model of autism spectrum disorder from PM2.5 exposure
Authors: Xie Xiaoqian , Li Kang , Liang Xiaotian , Tian Lei , Lin Bencheng , Yan Jun , Shi Yue , Liu Xiaohua , Xi Zhuge
Published: May 2023

PM2.5 induces a series of effects on neurological disorders, including autism spectrum disorder (ASD), however, the mechanism is not completely clear yet. Circular RNAs (circRNAs) are a class of closed-loop structures that can be stably expressed in vivo. In our experiments, rats exposed to PM2.5 exhibited autism-like phenotypes, such as anxiety, and memory loss. To explore the etiology, we performed transcriptome sequencing and found significant differences in the expression of circRNA. A total of 7770 circRNAs were identified between the control and experimental groups, 18 of which were differentially expressed, we selected ten circRNAs and performed qRT-PCR and Sanger sequencing to validate them. By GO and KEGG enrichment analysis, we found differentially expressed circRNAs that were mainly enriched in processes related to placental development and reproduction. Finally, using bioinformatics, we predicted miRNAs and mRNAs that circ-Mbd5 and circ-Ash1l might regulate and constructed circRNA-miRNA-mRNA networks involving genes associated with ASD, suggesting that circRNAs might regulate the occurrence of ASD.
Impact of moisture content, closing speed, and pressurizing speed on the performance of medium density fiberboard (MDF)
Authors: Gul Waheed , Ahmad Naveed , Mohammad Shoaib , Salah Bashir , Sajid Ullah Syed , Khurram Muhammad , Khan Razaullah
Published: May 2023

The purpose of this research is to investigate the impact of moisture content, closing speed, and pressurizing speed of hot press on the density, uniformity of density distribution, and properties of Medium Density Fiberboard (MDF) products. Moisture content affects the plasticity, heat conductivity, and hydrolysis reaction of the fiber and appropriate moisture content ensures the quality of the board. Excessive moisture content can lead to defects such as pollution and bubbles on the surface of the board. Closing time and pressurizing speed affect the nature, quality, and section structure of the MDF. The section density of the board varies with the closing time, and the product properties, especially the strength differs largely. The pressurizing speed influences the density distribution and board properties. Fast pressurizing speed results in high Modulus of Rupture (MoR) and low Internal Bonding (IB), while slow pressurizing speed leads to low MoR and high IB. Pre-plasticizing layer can improve the quality of MDF by increasing the density and hardness of the board surface. The findings provide guidance for optimizing the MDF production process and improving the quality of MDF products. Applying a fast pressurizing speed during the manufacturing process of MDF has resulted in a 15.7% increase in the MoR, which is a measure of the material’s ability to withstand stress before breaking as compared to using a slow pressurizing speed. Additionally, using a fast pressurizing speed has led to a reduction of 17.4% in the IB, which is a measure of the ability of the board to resist internal separation or delamination. Therefore, a fast pressurizing speed is more effective in improving the mechanical properties of MDF.
Developing a machine-learning model for real-time prediction of successful extubation in mechanically ventilated patients using time-series ventilator-derived parameters
Authors: Huang Kuo-Yang , Hsu Ying-Lin , Chen Huang-Chi , Horng Ming-Hwarng , Chung Che-Liang , Lin Ching-Hsiung , Xu Jia-Lang , Hou Ming-Hon
Published: May 2023

Background

Successful weaning from mechanical ventilation is important for patients admitted to intensive care units. However, models for predicting real-time weaning outcomes remain inadequate. Therefore, this study aimed to develop a machine-learning model for predicting successful extubation only using time-series ventilator-derived parameters with good accuracy.

Methods

Patients with mechanical ventilation admitted to the Yuanlin Christian Hospital in Taiwan between August 2015 and November 2020 were retrospectively included. A dataset with ventilator-derived parameters was obtained before extubation. Recursive feature elimination was applied to select the most important features. Machine-learning models of logistic regression, random forest (RF), and support vector machine were adopted to predict extubation outcomes. In addition, the synthetic minority oversampling technique (SMOTE) was employed to address the data imbalance problem. The area under the receiver operating characteristic (AUC), F1 score, and accuracy, along with the 10-fold cross-validation, were used to evaluate prediction performance.

Results

In this study, 233 patients were included, of whom 28 (12.0%) failed extubation. The six ventilatory variables per 180 s dataset had optimal feature importance. RF exhibited better performance than the others, with an AUC value of 0.976 (95% confidence interval [CI], 0.975–0.976), accuracy of 94.0% (95% CI, 93.8–94.3%), and an F1 score of 95.8% (95% CI, 95.7–96.0%). The difference in performance between the RF and the original and SMOTE datasets was small.

Conclusion

The RF model demonstrated a good performance in predicting successful extubation in mechanically ventilated patients. This algorithm made a precise real-time extubation outcome prediction for patients at different time points.
Percutaneous vertebroplasty for SAPHO syndrome with vertebral destruction: a case report and literature review
Authors: Cheng Yuanpei , Feng Hao , Mu Junhan , Chen Jialin , Wu Han
Published: May 2023

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare musculoskeletal disease characterized by dermatological and osteoarticular lesions. However, SAPHO syndrome is difficult to be diagnosed due to the rarity and complexity. Additionally, there is no standard treatment for SAPHO syndrome based on limited experience. Percutaneous vertebroplasty (PVP) has rarely been reported to treat SAPHO syndrome. We reported a 52-year-old female patient who had a sex-month history of back pain. Palmoplantar pustulosis appeared on the hands and feet. Vertebral destruction was observed on computed tomography (CT) scanning. Laboratory examination showed that erythrocyte sedimentation rate (ESR) and C-reactive protein were elevated. Finally, the patient was diagnosed with SAPHO syndrome and treated with PVP. After the surgery, the back pain was significantly relieved. In this study, we mainly discussed the treatment methods of SAPHO syndrome, and provided a potential treatment for SAPHO syndrome, especially with vertebral destruction, kyphosis, and even pathological fractures.
Comparison of sporulation and germination conditions for Clostridium perfringens type A and G strains
Authors: Liggins Marc , Ramírez Ramírez Norma , Abel-Santos Ernesto
Published: May 2023

Clostridium perfringens is a spore forming, anaerobic, Gram-positive bacterium that causes a range of diseases in humans and animals. C. perfringens forms spores, structures that are derived from the vegetative cell under conditions of nutrient deprivation and that allows survival under harsh environmental conditions. To return to vegetative growth, C. perfringens spores must germinate when conditions are favorable. Previous work in analyzing C. perfringens spore germination has produced strain-specific results. Hence, we analyzed the requirements for spore formation and germination in seven different C. perfringens strains. Our data showed that C. perfringens sporulation conditions are strain-specific, but germination responses are homogenous in all strains tested. C. perfringens spores can germinate using two distinct pathways. The first germination pathway (the amino acid-only pathway or AA) requires L-alanine, L-phenylalanine, and sodium ions (Na+) as co-germinants. L-arginine is not a required germinant but potentiates germination. The AA pathway is inhibited by aromatic amino acids and potassium ions (K+). Bicarbonate (HCO3−), on the other hand, bypasses potassium-mediated inhibition of C. perfringens spore germination through the AA pathway. The second germination pathway (the bile salt / amino acid pathway or BA) is more promiscuous and is activated by several bile salts and amino acids. In contrast to the AA pathway, the BA pathway is insensitive to Na+, although it can be activated by either K+ or HCO3−. We hypothesize that some C. perfringens strains may have evolved these two distinct germination pathways to ensure spore response to different host environments.
Probiotics and vitamins modulate the cecal microbiota of laying hens submitted to induced molting
Authors: Wang Chunyang , Shan Honghu , Chen Hui , Bai Xindong , Ding Jingru , Ye Dongyang , Adam Fathalrhman Eisa Addoma , Yang Yawei , Wang Juan , Yang Zengqi
Published: May 2023

Induced molting enables laying hens to relax, restore energy and prolong the laying hen cycle, resolving problems such as poor egg quality and minimizing economic losses caused by rising global feeding costs. However, traditional molting methods may disrupt gut microflora and promote potential pathogens infections. This study used a customized additive with a mixture of probiotics and vitamins to induce molting and examine the cecal microbiota post molting. A total of two hundred 377 day-of-ISA Brown laying hens were randomly assigned to four groups: non-molt with basal diet (C), 12-day feeding restriction (FR) in earlier-molting (B), feed again to 27.12% egg production in middle-molting (A) and reach second peak of egg production over 81.36% in post-molting (D). Sequencing 16S rRNA to analyze cecal microbial composition revealed that there is no significant change in bacterial community abundance post-molting. In contrast to group C, the number of potentially harmful bacteria such as E. coli and Enterococcus was not found to increase in groups B, A, or D. This additive keeps cecal microbiota diversity and community richness steady. In cecal contents, hens in group B had lower Lactobacillus, Lachnospiraceae and Prevotellaceae (vsC, A, and D), no significant differences were found between post-molting and the non-molting. Furthermore, cecal microbiota and other chemicals (antibodies, hormones, and enzymes, etc.) strongly affect immunological function and health. Most biochemical indicators are significantly positively correlated with Prevotellaceae, Ruminococcaceae and Subdoligranulum, while negatively with Phascolarctobacterium and Desulfovibrio. In conclusion, the additive of probiotics and vitamins improved the cecal microbiota composition, no increase in the associated pathogenic microbial community due to traditional molting methods, and enhances hepatic lipid metabolism and adaptive immunological function, supporting their application and induced molting technology in the poultry breeding industry.
Theoretical model of membrane protrusions driven by curved active proteins
Authors: Ravid Yoav , Penič Samo , Mimori-Kiyosue Yuko , Suetsugu Shiro , Iglič Aleš , Gov Nir S.
Published: May 2023

Eukaryotic cells intrinsically change their shape, by changing the composition of their membrane and by restructuring their underlying cytoskeleton. We present here further studies and extensions of a minimal physical model, describing a closed vesicle with mobile curved membrane protein complexes. The cytoskeletal forces describe the protrusive force due to actin polymerization which is recruited to the membrane by the curved protein complexes. We characterize the phase diagrams of this model, as function of the magnitude of the active forces, nearest-neighbor protein interactions and the proteins’ spontaneous curvature. It was previously shown that this model can explain the formation of lamellipodia-like flat protrusions, and here we explore the regimes where the model can also give rise to filopodia-like tubular protrusions. We extend the simulation with curved components of both convex and concave species, where we find the formation of complex ruffled clusters, as well as internalized invaginations that resemble the process of endocytosis and macropinocytosis. We alter the force model representing the cytoskeleton to simulate the effects of bundled instead of branched structure, resulting in shapes which resemble filopodia.
Overexpression of IκB⍺ modulates NF-κB activation of inflammatory target gene expression
Authors: Downton Polly , Bagnall James S. , England Hazel , Spiller David G. , Humphreys Neil E. , Jackson Dean A. , Paszek Pawel , White Michael R. H. , Adamson Antony D.
Published: May 2023

Cells respond to inflammatory stimuli such as cytokines by activation of the nuclear factor-κB (NF-κB) signalling pathway, resulting in oscillatory translocation of the transcription factor p65 between nucleus and cytoplasm in some cell types. We investigate the relationship between p65 and inhibitor-κB⍺ (IκBα) protein levels and dynamic properties of the system, and how this interaction impacts on the expression of key inflammatory genes. Using bacterial artificial chromosomes, we developed new cell models of IκB⍺-eGFP protein overexpression in a pseudo-native genomic context. We find that cells with high levels of the negative regulator IκBα remain responsive to inflammatory stimuli and maintain dynamics for both p65 and IκBα. In contrast, canonical target gene expression is dramatically reduced by overexpression of IκBα, but can be partially rescued by overexpression of p65. Treatment with leptomycin B to promote nuclear accumulation of IκB⍺ also suppresses canonical target gene expression, suggesting a mechanism in which nuclear IκB⍺ accumulation prevents productive p65 interaction with promoter binding sites. This causes reduced target promoter binding and gene transcription, which we validate by chromatin immunoprecipitation and in primary cells. Overall, we show how inflammatory gene transcription is modulated by the expression levels of both IκB⍺ and p65. This results in an anti-inflammatory effect on transcription, demonstrating a broad mechanism to modulate the strength of inflammatory response.
Neural stem cell-derived extracellular vesicles: mini players with key roles in neurogenesis, immunomodulation, neuroprotection and aging
Authors: Bonetto Valentina , Grilli Mariagrazia
Published: May 2023

Neural stem/progenitor cells (NSPCs) are self-renewing and multipotent cells of the central nervous system where they give rise to neurons, astrocytes and oligodendrocytes both during embryogenesis and throughout adulthood, although only in a few discrete niches. NSPC can integrate and send a plethora of signals not only within the local microenvironment but also at distance, including the systemic macroenvironment. Extracellular vesicles (EVs) are currently envisioned as main players in cell-cell communication in basic and translational neuroscience where they are emerging as an acellular alternative in regenerative medicine. At present NSPC-derived EVs represent a largely unexplored area compared to EVs from other neural sources and EVs from other stem cells, i.e., mesenchymal stem cells. On the other hand, available data suggest that NSPC-derived EVs can play key roles on neurodevelopmental and adult neurogenesis, and they are endowed with neuroprotective and immunomodulatory properties, and even endocrine functions. In this review we specifically highlight major neurogenic and “non-neurogenic” properties of NSPC-EVs, the current knowledge on their peculiar cargos and their potential translational value.
Recent advances in Raman and surface enhanced Raman spectroelectrochemistry
Authors: Yue Kang , Weipeng Wang , Tian Ma , Ting Zou , Junxian Chen , Zhengjun Zhang
Published: May 2023

Raman spectroscopy could supply the molecular vibrational process giving the detailed information of molecular structure. At the same time, electrochemistry could provide kinetic and thermodynamic processes. Integration of both technology with the general definition of using spectroscopic approaches for assaying the variations triggered through an electrochemistry-based system within an electrochemical cell induces a novel technique, spectroelectrochemistry (SEC). Raman-spectroelectrochemistry possesses interdisciplinary advantages and can further expand the scopes in the fields of analysis and other applications, emphasizing the cutting-edge issues of analytical chemistry, materials science, biophysics, chemical biology, and so on. This review emphasizes on the recent progress of integrated Raman/Surface enhanced Raman scattering-spectroelectrochemistry and aimed to summarize the spectroelectrochemistry device, electrode materials and applications of Raman/Surface enhanced Raman scattering-spectroelectrochemistry over the past several decades. Finally, the key issues, future perspectives and trends in the development of Raman/Surface enhanced Raman scattering-spectroelectrochemistry are discussed.
Case report: Early carotid stent shortening in patient with radiation-induced carotid stenosis
Authors: Choi Woochan , Hwang Yang-Ha , Kim Yong-Won
Published: May 2023

Carotid artery stenting (CAS) for carotid stenosis has been widely used as an alternative treatment in patients not eligible for surgery. The shortening of a carotid stent rarely occurs. We report a case of early shortening of CAS in a patient with radiation-induced carotid stenosis and discuss the potential pathophysiology and strategies for prevention. This case presents a 67-year-old man who underwent radiotherapy for oral cavity squamous cell carcinoma 7 years ago and subsequently developed severe stenosis in the left proximal internal carotid artery. The patient underwent CAS for symptomatic severe carotid stenosis. Follow-up CT angiography revealed shortening of the carotid stent, and additional carotid stenting was performed. We speculate that the possible mechanism of early complication of CAS could be slippage and shortening of the stent due to weak anchoring between the stent strut and the fibrotic arterial wall in radiation-induced carotid stenosis.
Intermittent energy restriction vs. continuous energy restriction on cardiometabolic risk factors in patients with metabolic syndrome: a meta-analysis and systematic review
Authors: Xu Rui , Cao Youxiang , Wang Peng-Ying , Chen Xiao-Lan , Tao Dan
Published: May 2023

Background

This is a systematic review and meta-analysis to compare the efficacy of intermittent energy restriction (IER) vs. continuous energy restriction (CER) on weight loss, body composition, blood pressure, and other cardiometabolic risk factors in patients with metabolic syndrome (MetS) risk factors.

Methods

We searched and screened PubMed, Embase, Cochrane Library, and Web of Science from inception to May 8, 2022 for randomized controlled trials. Two review authors independently selected studies, extracted data, assessed quality and risk of bias and cross-checked extracts to resolve discrepancies when required. We expressed effect size as mean difference (MD) and 95% confidence interval (CI). The major outcome was the improvement of MetS risk factors, including changes in waist circumference (WC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-c), blood pressure (BP), and fasting plasma glucose (FPG) levels. The secondary outcomes were body weight (BW), body mass index (BMI), body fat (BF), fat free mass (FFM), hip circumference (HC), fasting insulin (FINs), total cholesterol (TC), and low-density lipoprotein cholesterol (LDL-c).

Results

The meta-analysis included 16 articles (20 trials) with a total of 1,511 participants. All studies had a low risk of bias for random sequence generation. The IER and CER intervention equally improved MetS risk factors WC (MD = −0.47, 95% CI [−1.19, 0.25]), TG (MD = −0.02 mmol/L, 95% CI [−0.11, 0.07]), FPG (MD = −0.02 mmol/L, 95% CI [−0.10, 0.05]) and BP (systolic blood pressure: MD = 0.93 mmHg, 95% CI [−2.74, 4.61]; diastolic blood pressure: MD =1.15 mmHg, 95% CI [−0.24, 2.55]), but HDL-c (MD = 0.03 mmol/L, 95% CI [0.01, 0.05]) was significant improved in IER when compared with CER. For second outcomes, BW (MD = −0.8 kg, 95% CI [−1.26, −0.33]), BF (MD = −0.75 kg, 95% CI [−1.73, −0.13]) and FFM (MD = −0.49 kg, 95% CI [−0.92, −0.05]) were also significant improved in IER, and not for other outcomes.

Conclusion

Both IER and CER could improve MetS biomarkers, but IER was more effective than CER in the improvement of HDL-c only. For secondary outcomes, IER was also more effective for BW, BF and FFM, but there were no differences in effects for other outcomes.
Assessment of the physicochemical and sensory characteristics of fermented camel milk fortified with Cordia myxa and its biological effects against oxidative stress and hyperlipidemia in rats
Authors: Atwaa El Sayed Hassan , Shahein Magdy Ramadan , Raya-Álvarez Enrique , Abd El-Sattar El Sayed , Hassan Moustafa A. A. , Hashim Madeha Ahmed , Dahran Naief , El-Khadragy Manal F. , Agil Ahmad , Elmahallawy Ehab Kotb
Published: May 2023

Natural feed additives and their potential benefits in production of safe and highly nutritious food have gained the attention of many researchers the last decades. Cordia myxa is a nutrient-dense food with various health benefits. Despite this fact, very limited studied investigated the physicochemical and sensory impacts of incorporation of fermented camel milk with Cordia myxa and its biological effects. The current study aimed to assess the physical, chemical, and sensory characteristics of fermented camel milk (FCM) fortified with 5, 10, and 15% Cordia myxa pulp. The study demonstrated that fortification of camel milk efficiently enhanced protein, total solids, ash, fiber, phenolic substance, and antioxidant activity. When compared to other treatments, FCM supplemented with 10% Cordia myxa pulp had the best sensory features. In addition, FCM fortified with 10% Cordia myxa pulp was investigated as a potential inhibitor of hypercholesterolemia agents in obese rats. Thirty-two male Wistar rats were split into two main groups including normal pellet group (n = 8) served as negative control group (G1) and a group of hyperlipidemic animals (n = 24) were feed on a high-fat diet (HFD). Hyperlipidemic rats group (n = 24) were then divided into three subgroups (8 per each); second group or positive control (G2) which include hyperlipidemic rats received distilled water (1 mL/day), the third group (G3) involved hyperlipidemic rats feed on FCM (10 g/day) and the fourth group (G4) included hyperlipidemic animals feed on 10 g/day FCM fortified with 10% of Cordia myxa pulp by oral treatment via an intestinal tube for another 4 weeks. In contrast to the positive control group, G4 treated with Cordia myxa showed a substantial decrease in malondialdehyde, LDL, cholesterol, triglycerides, AST, ALT, creatinine, and urea levels, while a significant increase in HDL, albumin, and total protein concentrations. The number of large adipocytes decreased while the number of small adipocytes increased after consumption of fortified FCM. The results indicated that fermented milk fortified with Cordia myxa pulp improved the functions of the liver and kidney in hyperlipidemic rats. These results demonstrated the protective effects of camel milk and Cordia myxa pulp against hyperlipidemia in rats.
Association between the prevalence rates of circadian syndrome and testosterone deficiency in US males: data from NHANES (2011–2016)
Authors: Xiao Yunfei , Yin Shan , Cui Jianwei , Bai Yunjin , Yang Zhenzhen , Wang Jiahao , Wang Jia
Published: May 2023

Objective

The objective of this study is to explore the association between the prevalence rates of circadian syndrome (CircS) and testosterone deficiency (TD).

Materials and methods

Cross-sectional analysis was conducted on the basis of the National Health and Nutrition Examination Survey 2011–2016. The target population was males aged ≥20 years old. A total of three multivariable logistic regression models were built to elucidate the association between the prevalence rates of CircS and TD. Interactive and stratified analyses were employed to explore whether some variables can modify the above association. Sensitivity analyses were also conducted to verify the stability of the results with extreme values removed.

Results

A total of 3,436 eligible participants were involved. Multivariable logistic regression in the fully adjusted model suggested the CircS group had a significantly higher prevalence rate of TD compared with the non-CircS group (OR = 2.284, 95%CI 1.569 to 3.323). No significant correlation between the number of CircS components and TD was observed in any of the three models. The interactive and stratified analyses showed the association was more obvious in the population with moderate or vigorous activities. The results were robust after extreme data were excluded.

Conclusion

There is a positive association between the prevalence rates of CircS and TD in US men. The association becomes more obvious owing to moderate or vigorous activities.
Bitterness quantification and simulated taste mechanism of theasinensin A from tea
Authors: Zhang Jian-yong , Cui Hong-chun , Feng Zhi-hui , Wang Wei-wei , Zhao Yun , Deng Yu-liang , Jiang He-yuan , Yin Jun-feng , Engelhardt Ulrich H.
Published: May 2023

Theasinensin A is an important quality chemical component in tea, but its taste characteristics and the related mechanism are still unclear. The bitterness quantification and simulated taste mechanism of theasinensin A were researched. The results showed that theasinensin A was significantly correlated with the bitterness of tea. The bitterness threshold of theasinensin A was identified as 65 μmol/L for the first time. The dose-over-threshold (DOT) value of theasinensin A was significantly higher than that of caffeine in black tea soup. The concentration-bitterness curve and time-intensity curve of theasinensin A were constructed. The bitterness contribution of theasinensin A in black tea was higher than in oolong and green tea. Theasinensin A had the highest affinity with bitterness receptor protein TAS2R16, which was compared to TAS2R13 and TAS2R14. Theasinensin A was mainly bound to a half-open cavity at the N-terminal of TAS2R13, TAS2R14, and TAS2R16. The different binding capacity, hydrogen bond, and hydrophobic accumulation effect of theasinensin A and bitterness receptor proteins might be the reason why theasinensin A presented different bitterness senses in human oral cavity.
Uterine serous carcinoma: assessing association between genomics and patterns of metastasis
Authors: Alessandrino Francesco , Goncalves Nicole , Metalonis Sarah Wishnek , Luna Cibele , Mason Matthew M. , Lyu Jiangnan , Huang Marilyn
Published: May 2023

Background

Uterine serous carcinoma (USC) is an aggressive subtype of endometrial carcinoma which has been increasing at alarming rates, particularly among Asian, Hispanic and Black women. USC has not been well characterized in terms of mutational status, pattern of metastases and survival.

Objective

To investigate the association between sites of recurrence and metastases of USC, mutational status, race, and overall survival (OS).

Methods

This single-center retrospective study evaluated patients with biopsy-proven USC that underwent genomic testing between January 2015 and July 2021. Association between genomic profile and sites of metastases or recurrence was performed using χ2 or Fisher’s exact test. Survival curves for ethnicity and race, mutations, sites of metastasis/recurrence were estimated using the Kaplan-Meier method and compared with log-rank test. Cox proportional hazard regression models were used to examine the association between OS with age, race, ethnicity, mutational status, and sites of metastasis/recurrence. Statistical analyses were performed using SAS Software Version 9.4.

Results

The study included 67 women (mean age 65.8 years, range 44-82) with 52 non-Hispanic women (78%) and 33 Black women (49%). The most common mutation was TP53 (55/58 women, 95%). The peritoneum was the most common site of metastasis (29/33, 88%) and recurrence (8/27, 30%). PR expression was more common in women with nodal metastases (p=0.02) and non-Hispanic women (p=0.01). ERBB2 alterations were more common in women with vaginal cuff recurrence (p=0.02), while PIK3CA mutation was more common in women with liver metastases (p=0.048). ARID1A mutation and presence of recurrence or metastases to the liver were associated with lower OS (Hazard Ratio (HR): 31.87; 95%CI: 3.21, 316.9; p<0.001 and HR: 5.66; 95%CI: 1.2, 26.79; p=0.01, respectively). In the bivariable Cox model, the presence of metastasis/recurrence to the liver and/or the peritoneum were both independent significant predictors of OS (HR: 9.8; 95%CI: 1.85-52.7; p=0.007 and HR: 2.7; 95%CI: 1.02-7.1; p=0.04, respectively).

Conclusions

TP53 is often mutated in USC, which most commonly metastasize and recur in the peritoneum. OS was shorter in women with ARID1A mutations and with metastasis/recurrence to the liver. The presence of metastasis/recurrence to liver and/or peritoneum were independently associated with shorter OS.
Prediction of clinical response to neoadjuvant therapy in advanced breast cancer by baseline B-mode ultrasound, shear-wave elastography, and pathological information
Authors: Wang Siyu , Wen Wen , Zhao Haina , Liu Jingyan , Wan Xue , Lan Zihan , Peng Yulan
Published: May 2023

Background

Neoadjuvant therapy (NAT) is the preferred treatment for advanced breast cancer nowadays. The early prediction of its responses is important for personalized treatment. This study aimed at using baseline shear wave elastography (SWE) ultrasound combined with clinical and pathological information to predict the clinical response to therapy in advanced breast cancer.

Methods

This retrospective study included 217 patients with advanced breast cancer who were treated in West China Hospital of Sichuan University from April 2020 to June 2022. The features of ultrasonic images were collected according to the Breast imaging reporting and data system (BI-RADS), and the stiffness value was measured at the same time. The changes were measured according to the Response evaluation criteria in solid tumors (RECIST1.1) by MRI and clinical situation. The relevant indicators of clinical response were obtained through univariate analysis and incorporated into a logistic regression analysis to establish the prediction model. The receiver operating characteristic (ROC) curve was used to evaluate the performance of the prediction models.

Results

All patients were divided into a test set and a validation set in a 7:3 ratio. A total of 152 patients in the test set, with 41 patients (27.00%) in the non-responders group and 111 patients (73.00%) in the responders group, were finally included in this study. Among all unitary and combined mode models, the Pathology + B-mode + SWE model performed best, with the highest AUC of 0.808 (accuracy 72.37%, sensitivity 68.47%, specificity 82.93%, P<0.001). HER2+, Skin invasion, Post mammary space invasion, Myometrial invasion and Emax were the factors with a significant predictive value (P<0.05). 65 patients were used as an external validation set. There was no statistical difference in ROC between the test set and the validation set (P>0.05).

Conclusion

As the non-invasive imaging biomarkers, baseline SWE ultrasound combined with clinical and pathological information can be used to predict the clinical response to therapy in advanced breast cancer.
Mandibular reconstructions with free fibula flap using standardized partially adjustable cutting guides or CAD/CAM technique: a three- and two-dimensional comparison
Authors: Weitz Jochen , Grabenhorst Alex , Singer Hannes , Niu Minli , Grill Florian D. , Kamreh Daniel , Claßen Carolina A. S. , Wolff Klaus-Dietrich , Ritschl Lucas M.
Published: May 2023

Background

Mandibular reconstruction with the fibula free flap (FFF) is performed freehand, CAD/CAM-assisted, or by using partially adjustable resection/reconstruction aids. The two latter options represent the contemporary reconstructive solutions of the recent decade. The purpose of this study was to compare both auxiliary techniques with regard to feasibility, accuracy, and operative parameters.

Methods and materials

The first twenty consecutively operated patients requiring a mandibular reconstruction (within angle-to-angle) with the FFF using the partially adjustable resection aids between January 2017 and December 2019 at our department were included. Additionally, matching CAD/CAM FFF cases were used as control group in this cross-sectional study. Medical records and general information (sex, age, indication for surgery, extent of resection, number of segments, duration of surgery, and ischemia time) were analyzed. In addition, the pre- and postoperative Digital Imaging and Communications in Medicine data of the mandibles were converted to standard tessellation language (.stl) files. Conventional measurements – six horizontal distances (A–F) and temporo-mandibular joint (TMJ) spaces – and the root mean square error (RMSE) for three-dimensional analysis were measured and calculated.

Results

In total, 40 patients were enrolled (20:20). Overall operation time, ischemia time, and the interval between ischemia time start until end of operation showed no significant differences. No significant difference between the two groups were revealed in conventional measurements of distances (A–D) and TMJ spaces. The Δ differences for the distance F (between the mandibular foramina) and the right medial joint space were significantly lower in the ReconGuide group. The RMSE analysis of the two groups showed no significant difference (p=0.925), with an overall median RMSE of 3.1 mm (2.2–3.7) in the CAD/CAM and 2.9 mm (2.2–3.8) in the ReconGuide groups.

Conclusions

The reconstructive surgeon can achieve comparable postoperative results regardless of technique, which may favor the ReconGuide use in mandibular angle-to-angle reconstruction over the CAD/CAM technique because of less preoperative planning time and lower costs per case.