bluuebunny/crossref_metadata_2025 huggingface dataset:
A novel compound heterozygous mutation in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree
Authors: Li Lingyi , Qu Xiaowei , Cui Chenchen , Feng Ke , Xia Yanqing , Wan Feng , Fang Yinghong , Zhang Cuilian , Guo Haibin
Published: May 2023

Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (CFTR) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed. In this study, whole-exome sequencing and co-segregation analysis were performed in a Chinese pedigree involving two siblings with CBAVD. Moreover, in vitro functional assays were used to analyze the pathogenicity of a novel CFTR mutation. We identified a novel compound heterozygous mutation of CFTR comprising the known disease-causing variant c.1210-11T > G (also known as IVS9‐5T) and c.2144delA;p.q715fs in two siblings with CBAVD. To verify the effects in vitro, we transfected vectors expressing wild-type and mutated CFTR into 293T cells. The results showed that the CFTR protein containing the frameshift mutation (c.2144delA) was 60 kD smaller. With testicular sperm aspiration/intracytoplasmic sperm injection-embryo transfer (TESA/ICSI-ET), both CBAVD patients fathered healthy offspring. Our study revealed that this novel compound heterozygous mutation is involved in CBAVD, expanding the known CFTR gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD.
Identification of the shared gene signatures and biological mechanism in Atrial Fibrillation and Ischemic cardiomyopathy
Authors: Naman Tuersunjiang , Mahemuti Ailiman , Abudouwayiti Aihaidan , Sun Juan , Abuduhalike Refukaiti
Published: May 2023

Objective the relationship between Atrial fibrillation(AF) and Ischemic cardiomyopathy(ICM) has long been widely recognized, but no previous study explore the interaction mechanisms and method to confirm the casual relation ship of them. this study was aimed to investigate the shared gene signatures and molecular process between AF and ICM.Methods The Gene expression Omnibus(GEO) database was used to retrieve the data of AF and ICM used in this syudy. Weighted gene co-expression network analysis(WGCNA) was performed to discover associated genes with AF and ICM. Than intersecting the correlated genes by venn and filtered out the co-expression gene both AF and ICM, than performed GO enrichmen analysis and PPI network analysis, than usig the cytoscape software screened out the most significant hub genes correlated with AF and ICM, finally validated by other dataset.Result using WGCNA the most correlated module with AF and ICM respectively were identified. By venn the most correlated genes with AF and ICM filtered out 188 genes as the co-expressed genes with AF and ICM. than performed GO enrichmen analysis and PPI network analysis, than usig the cytoscape software screened out the three most significant hub genes(CHD1,MSH2, NIBPL) correlated with AF and ICM, finally validated using other dataset by ROC, all of thre genes has the good discrimination ability both in AF and ICM.Conclusion This work firstly revealed the three co-expression genes correlated with AF and ICM, maybe the expression level of these genes have diagnostic value of AF and ICM and have diagnostic value to confirm the cause of AF is ICM.
Screening EFL Teachers’ and Learners’ Perceptions of Emergency Remote Teaching During COVID-19 Pandemic: A Comparative Analysis
Authors: Isaee Hossein , Barjesteh Hamed
Published: May 2023

Virtual, distant and blended learning are not unheard of and have been practiced in ELT context for quite a while; however, the abrupt shift to online education during COVID-19 was entirely different from the actual online education (Hodges et al., 2020), and it should rather be named as Emergency Remote Teaching (ERT). In effect, the present mixed-methods study aimed to screen EFL teachers’ and learners’ perceptions of ERT classes as well as discovering the probable (non)alignment between their attitudes. Hence, 20 EFL teachers and 30 learners were invited for the qualitative phase of the study who underwent semi-structured interviews. Moreover, 34 EFL teachers and 70 learners participated in the quantitative phase by responding a self-report questionnaire on their experiences with ERT classes. The data from the questionnaire helped researchers gain a general profile of the participants’ attitudes as both groups expressed satisfaction with ERT which indicated relative alignment between their perceptions. The qualitative analysis of teachers’ data manifested two thematic categories: 1) engaging online EFL learners, and 2) enhancing receptive and productive skills via online instruction. Besides, EFL learners’ data revealed their belief in: 1) enhancing digital competence and technological knowledge, and 2) improving communicative language learning through online instruction. The findings contributed to ELT teachers’ awareness of applying online instruction to elevate EFL learners’ technological knowledge, to improve teaching receptive and productive skills, and to create an interactive learning atmosphere through meticulous selection of tasks and activities in order for the learners to be passionately engaged in classroom communication.
Identifying ferroptosis-related genes associated with coronary heart disease based on bioinformatics analysis
Authors: Chai Zhongyi , Hu Rong , Du Xin , Dong Jianzeng , Ma Changsheng
Published: May 2023

Background:Coronary heart disease (CHD) is a prevalent type of organ disease, caused by atherosclerosis, and is the leading cause of global human mortality. Ferroptosis, a recently discovered form of programmed cell death, is known to be involved in the pathogenesis of various diseases. In this study, we aimed to investigate the differential expression of ferroptosis-related genes (FRGs) and their potential relationship with CHD.
Methods: The CHD datasets were obtained from the Gene Expression Omnibus (GEO) database and microarray data was normalized and analyzed for differential expression genes (DEGs) using R software. FRGs were retrieved from the FerrDb and GeneCards databases, and their intersection with DEGs was determined using Venn diagrams. The differential expression FRGs were subjected to further analyses, including GO, KEGG, GSEA, transcription factor analysis, and PPI network analysis. Immune infiltration analysis was performed on both control and CHD groups, and diagnostic biomarkers for CHD were identified by constructing ROC curves. Finally, the expression of the diagnostic biomarkers at the gene level in mice was validated using qRT-PCR assay.
Results: Our study identified 25 DEGs associated with ferroptosis, which were enriched in various biological processes, including response to extracellular stimulus, regulation of protein ubiquitination, DNA-templated, and autophagy of mitochondrion. The KEGG pathway and GSEA indicated that these DEGs were mainly involved in cytokine-cytokine receptor interaction and the NF-kappa B signaling pathway. The PPI network analysis identified 6 key genes in the network. The correlation analysis between the expression of these key genes and immune cells showed a significant relationship. Diagnostic biomarkers for CHD, including ICTSB, GABARAPL1, and VDR, were identified using ROC analysis. The expression trends of these biomarkers were further validated using qRT-PCR, which confirmed the consistency with the bioinformatics analysis.
Conclusions: Our study identified CTSB, GABARAPL1, and VDR as potential diagnostic biomarkers for CHD. In the future, in-vivo studies are necessary to validate our findings and confirm their clinical utility.
Effect of kinesophobia on postoperative rehabilitation outcomes of patients with cervical spondylotic myelopathy: a cross-sectional study
Authors: Chen Yaqiong , Zhong Guiqin , Zhong Shichai , Lin Jingjing , Lin Yanjuan
Published: May 2023

Objective There are no studies on postoperative exercise fear in patients with cervical spondylotic myelopathy (CSM). In this cross-sectional survey, we examined the occurrence of exercise fear in early postoperative patients with CSM, along with exploring the influence of related variables on exercise fear.Methods From November 2020 to November 2022, 150 patients diagnosed with CSM underwent surgical treatment in the neurosurgery wards of two Grade-III Class A general public hospitals in Fujian Province. The Tampa Scale of Kinesophobia (TSK) was used to assess the level of exercise fear in these patients and those with > 37 points were considered to have exercise fear. Univariate analysis, Spearman correlation analysis, and multiple logistic regression analysis were used to determine the influence of related factors on kinesophobia in CSM patients.Results A total of 122 patients were included in this study. The average score of fear of movement after surgery was 41.2 ± 4.5, with an incidence of 75.4%. Multivariate logistic regression analysis showed that age (odds ratio [OR] = 1.105, 95% confidence interval [CI] = 1.014–1.204), neck disability index (NDI) (OR = 1.268, 95% CI = 1.108–1.451), diabetes mellitus (OR = 0.026, 95% CI = 0.001–0.477), and Japanese Orthopaedic Association (JOA) score (OR = 0.698, 95% CI = 0.526–0.927) were associated with the occurrence of kinesophobia after CSM surgery (P < 0.05).Conclusion The incidence of postoperative exercise fear in CSM patients is high, which may affect their postoperative outcomes and lead to poor postoperative limb function. During postoperative rehabilitation, medical staff must pay attention to the potential occurrence of kinesophobia, and postoperative rehabilitation exercises should be conducted for patients with kinesophobia.
Clinical characteristics of infantile haemangioma in twins: A retrospective study
Authors: Sun Zhengwei , Li Miaomiao , Dong Changxian , Mei Shiwei
Published: May 2023

Background: Infantile hemangioma is one of the most common benign soft tissue tumors in infants. The pathogenesis of infantile hemangioma remains unclear and twin studies regarding its incidence may help clarify disease pathogenesis. Thus, this study aimed to analyze the clinical characteristics of infantile hemangioma in twin patients and discuss its clinical incidence.
Methods: We retrospectively analyzed the data of 83 pairs of twins with infantile hemangioma admitted to the Guangdong Provincial Women and Children Hospital and Henan Provincial People's Hospital between May 2016 and May 2022. Thirty-one pairs of twins among whom both developed infantile hemangioma and 52 pairs of twins among whom only one twin was affected were included. Analysis was performed using the Spearman correlation. Additionally, we analyzed the influence of factors such as sex, twin zygosity, preterm birth, birth weight, and assisted reproduction on the clinical characteristics of twins.
Results: We observed that disease occurrence in both twins correlated with assisted reproduction (χ2= 13. 102, P<0.05) and preterm birth (χ2=36.523, P<0.05). Twin zygosity (χ2=0.716, P>0.05) and total birth weight of twins (t=-3.369, P>0.05) were not correlated with infantile hemangioma. However, among twins, the ones with lesser birth weight were more likely to develop infantile hemangioma.
Conclusions: The clinical characteristics of infantile hemangioma in twins were consistent with their epidemiological characteristics. Female sex, preterm birth, less birth weight, and assisted reproduction increased the probability of morbidity in twins. Analysis of the characteristics of infantile hemangioma in twins may assist further research and clinical treatment.
Statistical study of the diarrhea factor using the Shotgun Metagenomic Sequencing technique of intestinal microbiome samples of Iberian pigs from 0 days of life to 90 days of age
Authors: Rafael Vazquez Caldito , Pedro Rodriguez Medina , Angela Lacombe Antonelli , Javier Gomez Roman , Alicia Gallego Aguilera
Published: May 2023

Background: Due to the increasing tendency to decrease the use of antimicrobials in piglets to mitigate intestinal dysbiosis problems, new alternatives are being sought for the control and prevention of these important pathologies in animals. Among these alternatives is the study of the intestinal microbiota of pigs. It is crucial to rule out or ensure that diarrhea is an influential factor in the composition of the piglet microbiome. The Next Generation (Shotgun) Whole Genome Sequencing technology has not been used for this purpose so far in Iberian pigs.
Methods: The study aims to demonstrate statistically that the diarrhea of the piglets does or does not provide significant differences in relation to the relative abundance of the different taxa between samples, their alpha diversity, their beta diversity and in relation to the beta dispersion of their beta diversity. Studies on the relative abundances of different taxa and comparative studies of abundance of different taxa are carried out. The study also aims to discover which are the species that generate the greatest differences or contrast between the different samples according to the intestinal dysbiosis of the piglets studied.
Results: Statistical inference tests determined that the diarrhea-related compositions of the samples are different according to the Phylums, that the beta diversities of the samples are also different in relation to the diarrhea factor and the age factor, while the beta dispersions of these two factors, diarrhea and age, are not different. The alpha diversities of the samples were not different in relation to the diarrhea factor. It is determined that there are species in the Microbiota of pigs that have also been found in humans and non-human primates, thus highlighting the importance of the One Health concept between the two species.
Conclusions: The diarrhea factor and age generate evident differences in the composition of the microbiome of pigs. This porcine microbiome is closely related to the human microbiome in relation to the species that generate the greatest differences between piglets suffering intestinal dysbiosis and healthy pigs.
RETRACTED: SC912 inhibits AR-V7 activity in castration-resistant prostate cancer by targeting the androgen receptor N-terminal domain
Authors: Wu Jian Hui , Yi Qianhui , Han Xiaojun , Yu Henry , Chen Huei-Yu , Qiu Dinghong , Su Jie , Lin Rongtuan , Batist Gerald
Published: May 2023

The authors have requested that this preprint be removed from Research Square.
Comparison of Three Nutritional Assessment Methods Associated with the Prognostic Impact of Laryngeal Cancer
Authors: Yi Hanxiao , Chen Changlong , Zhou Song , Wang Yang , Zhou Yitong , Cheng Jie , Liang Qunying
Published: May 2023

Background: Several studies have found that the prognostic nutritional index (PNI), controlling nutritional status (CONUT), and Glasgow Prognostic Scores (GPS) of patients with laryngeal cancer accurately predicts their prognosis. However, there is no consensus on the best assessment tool. Therefore, the purpose of this study was to confirm the predictive value of the three nutritional scoring systems for the prognosis of patients with laryngeal cancer.
Methods: In this study, a cohort of 427 patients with laryngeal cancer visiting our hospital was analyzed respectively.PNI, CONUT, and GPS were calculated, and the relationship between these indicators and prognosis was examined.
Results: The optimal cut-off levels for overall survival (OS) of laryngeal cancer patients determined by PNI, CONUT, and GPS were 45, 3, and 0, respectively. When patients were stratified based on these thresholds, OS and disease-free survival (DFS) were significantly decreased in the malnutrition group (all three p＜0.05).Laryngeal cancer patients' OS rates were significantly affected by the three scores, according to multivariate analysis.
Conclusions: The three scoring methods had a high predictive value for the prognosis of patients with laryngeal cancer, with GPS having the strongest correlation with the prognosis of laryngeal cancer patients.
Highly accurate peak detection for low-molecular compounds using NHA with truncation of 1H-13C HMBC spectral data
Authors: Kimoto Takato , Hasegawa Masaya , Okada Takuya , Toyooka Naoki , Hirobayashi Shigeki
Published: May 2023

Two-dimensional nuclear magnetic resonance (NMR) spectroscopy provides more chemical structural information than is provided by 1D NMR spectroscopy. However, the efficient reconstruction of high-resolution spectra is difficult because of the long measurement time and low resolution, which depend on the number of increments in the indirect dimension. We address these problems by applying truncation and non-harmonic analysis (NHA) to the spectra recorded in 2D NMR experiments. The truncation method can improve the signal-to-noise ratio (SNR) and shorten the measurement time, and NHA can reconstruct a high-resolution spectrum irrespective of the window length of the analysis. In this study, the performance of the NHA was verified from both phantom 2D NMR data and experimental data. The data are analyzed by applying NHA and the results compared with those analyzed using Fast Fourier Transform (FFT), a method commonly used for NMR analysis. By truncating the data uniformly, the amount of data required to maintain the spectral peaks is determined. Consequently, we demonstrate that our proposed method can yield accurate spectral information for reductions of up to 6.3% of the original data volume, except for the denser parts. This is expected to improve the efficiency of 2D NMR experiments.
Tolvaptan and urea in paediatric hyponatraemia.
Authors: Veligratli Faidra , Alexandrou Demitra , Shah Sarit , Amin Rakesh , Dattani Mehul , Gan Hoong-Wei , Famuboni Adeola , Garcia Camilo Lopez , Trompeter Richard , Bockenhauer Detlef
Published: May 2023

Background: The syndrome of inappropriate antidiuretic hormone (SIADH) is usually treated with fluid restriction. This can be challenging in patients with obligate fluid intake for nutrition or medication. Pharmaceutical treatment with tolvaptan and urea is available but minimal paediatric data are available. We review the efficacy and safety of tolvaptan and urea in paediatric patients diagnosed with SIADH.
Methods: Retrospective review of paediatric inpatients with clinical diagnosis of SIADH. Patients were identified from pharmacy records, based on tolvaptan and urea prescriptions. Relevant information was extracted from patient electronic records.
The main outcome measures included: number of days to sodium normalisation, daily change in plasma sodium concentration and maximum increase of plasma sodium concentration in 24hrs . Reported side effects were also captured.
Results: Tolvaptan use led to plasma sodium normalisation in 10/13 (77%) within six days (median 2.5 days, range [1,6]) with a median change of sodium concentration of 7 mmol/L
(-1,14) within the first 24 hours of treatment. Three patients experienced a change in plasma sodium >10 mmol/l/day but had no apparent side effects.
Urea use led to sodium normalisation in 5/6 (83%) patients. Median number of days to normalisation with urea was 2 (1,10) with a median change of plasma sodium concentration of 2 mmol/L (-1,6) within the first 24hours. All patients tolerated tolvaptan and/or urea without unexpected side effects.
Conclusions: Tolvaptan and urea appear to be safe and effective when fluid restriction is challenging in paediatric SIADH.
Symbolic Access: Medical students’ awareness of institutional culture and its influence on learning, a phenomenographic study.
Authors: Lulua Dina-Ruth , Moch Shirra
Published: May 2023

Background: The discussion of access in medical education has its focus largely on physical and epistemological access, leaving a qualitative gap regarding sociocultural factors which enable access in this context. This study introduces and defines symbolic access, a concept with a specific lens on sociocultural enculturation, and the influence it has on student learning within the South African medical education landscape.
Methods: A phenomenographic design was used to explore students’ conceptions of symbolic access and its impact on learning. One-on-one exploratory interviews were conducted with fifteen final year medical students at the University of Witwatersrand in Johannesburg. Interviews were analysed using Sjöström and Dahlgren‘s seven-step phenomenography model.
Results: Four categories of description were induced, which described students’ understanding of symbolic access, these were rejection, disregard, invalidation and actualization. Five dimensions of variation were discovered, these dimensions expressed the different ways the categories were experienced. These dimensions were; interactions with educators, peer relationships, educational environment, race and hierarchy. Categories of description and dimensions of variation formed the Outcome Space, a visual representation of the student experience of symbolic access. The outcome space had a double narrative related to symbolic access; exclusion (major) and actualization (minor). Medical student’s chief experience within the medical community was exclusion, however experiences of peer-relationships, clinical skills lessons and participation within the clinical setting facilitated community inclusion, enculturation, and impacted learning.
Conclusion: Despite deeply exclusionary experiences throughout their programme, medical students articulated attaining symbolic access into the community, which is predominantly influenced by clinical experiences during the pre-clinical and clinical years of study. Furthermore descriptions of valuable learning experiences were connected to clinical events and the involvement with patient care. This study suggests that the actualization of symbolic access and description of meaningful learning experiences are linked. Medical educationalists should design undergraduate curricula with early clinical immersion at the fore and explore symbolic concepts pertaining to access, as they are linked to transformative learning experiences for the medical student.
Determinants of Infant and Young Child Feeding Practices and their association with childhood illnesses among 0-23 months old in Rwanda: A nationwide study
Authors: Kawuki Joseph , Nuwabaine Lilian , Amwiine Earnest , Asiimwe John Baptist , Sserwanja Quraish , Gatasi Ghislaine , Donkor Elorm , Mutisya Linet M , Patience Nakalega Annet
Published: May 2023

Introduction: Optimal Infant and young child feeding (IYCF) practices such as exclusive breastfeeding and complementary feeding are essential for childhood development, and prevention of nutritional deficiency disorders and infectious diseases. Therefore, this study aimed to assess the association of IYCF practices with common childhood illnesses like diarrhea, cough, and fever, and the determinants of IYCF practices.
Methods: Secondary data from the Rwanda Demographic and Health Survey, 2020 of 3,142 participants was used. Multistage stratified sampling was used to select the participants. Multivariable logistic regression was conducted to explore the determinants of Infant and young child feeding practices and their association with common childhood illnesses, using SPSS (version 25).
Results: Of the 3,142 women with children below 24 months, 781 and 2,360 had children below 6 months and 6-23 months respectively. Among the 781 children below 6 months, 80.9% (95%CI: 78.2-83.7) were exclusively breastfed, and 7%, 24%, and 14% had suffered from diarrhea, cough, and fever in the last two weeks, respectively. Of the 2,360 children aged 6-23 months, 97.9% (95%CI: 97.3-98.5) were on complementary feeding, and 24%, 35%, and 26% had suffered from diarrhea, cough, and fever, in the last two weeks respectively. Compared to exclusively breastfed children, those not on exclusive breastfeeding had higher odds of suffering from diarrhea (AOR=4.19, 95%CI: 3.01-5.83), cough (AOR=1.63, 95%CI: 1.33-2.00) and fever (AOR=2.00, 95%CI: 1.55-2.58). However, children not on complementary feeding had less odds of suffering from diarrhea (AOR=0.24, 95%CI: 0.17-0.33), cough (AOR=0.61, 95%CI: 0.50-0.74), and fever (AOR=0.50, 95%CI: 0.39-0.64). Women with no health insurance, no media access, residing in the western, and southern regions of Rwanda had higher odds of practicing exclusive breastfeeding compared to their respective counterparts. Older age, primary education, and being in the richest wealth quintile were associated with higher odds of practicing complementary breastfeeding.
Conclusion: The study highlighted a significant association between IYCF practices and childhood illnesses. More efforts are needed to improve and promote IYCF practices, as this could also be a vital strategy in the prevention of childhood illnesses. IYCF promotion strategies should focus on the younger, less educated, and poor women residing in urban areas.
Ultrasound Evaluation of Brain Parenchyma in Preterm Infants With Prenatal Opioid Exposure
Authors: Wachman Elisha , Tivnan Patrick , Setty Bindu , Howard Eileen , Agarwal Joel , Farris Chad , Castro-Aragon Ilse
Published: May 2023

Objective
To evaluate whether preterm infants with prenatal opioid exposure had differences in brain size on head ultrasounds (HUS) in comparison to non-exposed infants.
Study Design
Preterm infants ≤ 34 weeks with prenatal opioid exposure (n = 94) and matched non-exposed infants (n = 124) with early HUSs were examined. Fifteen brain measurements were made and linear regression models performed to evaluate differences.
Results
Brain measurements were smaller in the right ventricular index [β=-0.18 mm (95% CI -0.28, -0.07], left ventricular index [β=-0.04 mm (95% CI -0.08, -0.01)], left basal ganglia insula [β=-0.08 mm (95% CI -0.13, -0.04)], right basal ganglia insula [β=-0.10 mm (95% CI -0.14, -0.06)], corpus callosum fastigium length [β=-0.16 mm (95% CI -0.23, -0.08)], intracranial height index [β=-0.31 mm (95% CI -0.42, -0.21)], and transcerebellar measurements [β=-0.13 (95% CI -0.22, -0.04)] in the opioid-exposed group.
Conclusions
Preterm infants with prenatal opioid exposure have smaller brain sizes compared to non-exposed infants.
Outcomes of Systemic Bevacizumab in Radiation-Induced Optic Neuropathy, Case Series
Authors: AlAmeer Ahmad Mohammed , Davis James Brian , Carey Andrew Rising , Henderson Amanda Dean
Published: May 2023

Purpose:Optic neuropathy is a rare, delayed complication after radiation with no universally accepted treatment modality. We report the outcomes of 6 patients with radiation-induced optic neuropathy (RION) who were treated with systemic bevacizumab.
Methods: This is a retrospective series of 6 cases of RION, treated with intravenous (IV) bevacizumab. “Improved” or “worse” visual outcomes were defined as a change in best corrected visual acuity of ≥3 Snellen lines. Otherwise, the visual outcome was noted as “stable”.
Results: In our series, RION was diagnosed 8 to 36 months after radiotherapy. IV bevacizumab was initiated as treatment within 6 weeks of the onset of visual symptoms in 3 cases and after 3 months in the other cases. Although no improvement in visual function was observed, stabilization of vision was noted in 4 of the 6 cases. In the other 2 cases, the level of vision declined from counting fingers to no light perception. In 2 cases, bevacizumab treatment was discontinued prior to completion of the planned course due to renal stone formation or worsening of renal disease. One patient developed ischemic stroke 4 months after bevacizumab completion.
Conclusion: Systemic bevacizumab may stabilize vision in some patients with RION; however, the risks and potential benefits of using IV bevacizumab should be considered in each individual case.
Angle calibration method of missile shell combined detection platform under loading condition
Authors: Nan Guo , Chuan ZHANG
Published: May 2023

This study addresses the issue of decreased installation accuracy of platform components due to repeated loading on a missile shell testing platform. A proposed method to address this issue involves the development of a specialized fixture for platform inspection and transfer, as well as testing the angular accuracy of the platform's headstock and tailstock. The study also analyzes the various factors that affect the accuracy error of the inspection platform after loading products and investigates the impact of repeated loading on the geometric accuracy between platform components. The results indicate that a calibration method utilizing the transfer fixture and inspection mandrel can effectively eliminate the loss of corner accuracy of the testing platform after loading products. This method ensures the parallelism between the centerline of the head and tail seat and the working surface of the testing platform, with a deviation of 0.003 mm/100 mm, and maintains a corner accuracy of 30" after loading. This approach offers advantages in terms of convenience, accuracy, and reliability.
Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families
Authors: Semjid Dejidnorov , Ahn Hyunsoo , Bayarsaikhan Sapaar , Gantumur Munkhjargal , Kim Sanguk , Lee Jae Hoon
Published: May 2023

Objectives This study aimed to identify genetic variants associated with non-syndromic tooth agenesis (TA) in nine families from Mongolia using whole-exome sequencing (WES) and bioinformatics analysis to TA.Material and methods The study enrolled 41 participants, including three inherited and six non-inherited families. WES analysis was performed on 14 saliva samples from individuals with non-syndromic TA. The potential candidate genes were identified through variant filtering and segregation analysis. The filtered variants were then analyzed in silico mutation impact analysis.Results WES analysis identified 21 variants associated with TA, and 5 of these variants met all filtering criteria. These variants were located in the exome region of MAST4, ITGA6, PITX2, CACNA1S, and CDON genes. The variant in PITX2 was found in eight participants from inherited and non-inherited families, while the MAST4 variant was identified in 6 participants from inherited families.Conclusions The study identified various genetic variant candidates associated with TA in different family groups, with PITX2 being the most commonly identified. Our findings suggest that MAST4 may also be a novel candidate gene for TA due to its association with the Wnt signaling pathway. Additionally, we found that five candidate genes related to focal adhesion and calcium channel complex were significant and essential in tooth development.Clinical relevance: Identifying new pathogenic genes associated with TA can improve our understanding of the molecular mechanisms underlying the disease, leading to better diagnosis, prevention, and treatment. Early detection of TA based on biomarkers can improve dental management and facilitate orthodontic and prosthetic treatment.
Growth, intestinal health, nutritional profile and molecular mechanism of the hydrid grouper, E. lanceolatus♂× E. fuscoguttatus♀juveniles reared with microalgae Chlorella pyrenoidosa
Authors: Zhang W. H. , Lau C. C. , Yeong Y. S. , Zhou W. L. , Gao J. W. , Jiang Z. F. , Mok W. J.
Published: May 2023

The effects of microalgae Chlorella pyrenoidosaon the hybrid groupers’ (Epinephelus lanceolatus♂×E. fuscoguttatus♀) growth, gut microbiome and transcriptome were examined in this study. Feeding trials with duration of 15-days (15d) and 60-days (60d) were conducted on three experimental groups (n=3) as follow; (T1) grouper fed with basal diet and reared in filtered seawater (control treatment), (T2) grouper fed with basal diet and reared in C. pyrenoidosa monoculture water and (T3) grouper fed with basal diet partially replaced with 15% of dried C. pyrenoidosa (CRM) and reared in filtered seawater. The findings revealed that groupers reared 15d in T2 treatment (T2-15d) had a higher fat content, with apparent shift of microbial composition and functional pathways in the gut. Groupers reared 60d in T2 treatment (T2-60d) displayed an increased NADH dehydrogenases and cytochrome c oxidases gene expression, indicating more robust oxidative phosphorylation activity and ATP production crucial for the metabolic homeostasis. The reduction in the total amino acid content was also detected in groupers raised in T2-60d. Gastritis, enteritis and lipid malabsorption syndrome were observed in groupers raised 60d in T3 treatment (T3-60d), with the condition likely due to a higher intake of omega-6 to omega-3 fatty acids ratio in grouper raised 15 days in T3 (T3-15d) and T3-60d. This result indicated that grouper intestinal inflammation could arise from the inclusion of dried C. pyrenoidosa. Overall, the study outcomes demonstrated that introducing live C. pyrenoidosa to the culture water is advantageous in the digestion and enhance the energy metabolism of juvenile groupers.
Evaluation of Sarcopenia and Prognostic Biomarkers in Stage III Non-Small Cell Lung Cancer Turkish Oncology Group and Turkish Society of Radiation Oncology Thoracic Cancer Study Group (08-005)
Authors: Gümüştepe Esra , Yavaş Güler , Kıraklı Esra Korkmaz , Dinçbaş Hidayet Fazilet , Nurlu Dilek , Hürmüz Pervin , Köksoy Elif Berna , Çatal Tuba Kurt , Özler Talar , Aslan Melek Tuğçe Yılmaz , Akyürek Serap
Published: May 2023

Objectives: The aim of this retrospective multicenter study was to evaluate the prognostic significance of sarcopenia, prognostic nutritional index (PNI), and inflammatory markers in patients with stage III non-small cell lung cancer (NSCLC) who received definitive chemoradiotherapy. Furthermore, the study aimed to determine the threshold value of disease-specific sarcopenia.
Methods: A total of 461 patients with stage III NSCLC were evaluated. Sarcopenia, PNI, and biochemical inflammatory markers were assessed. Kaplan-Meier method and Cox regression analysis were used to analyze overall survival (OS) and progression-free survival (PFS).
Results: This study found a disease-specific sarcopenia threshold of LSMI <38.7 cm² / m² for women and <45.1 cm² / m² for men, with 25.2% of patients having disease-specific sarcopenia. The optimal PNI cut-off value was determined to be 34.71, with 75.3% of patients categorized as PNI-high and 24.7% as PNI-low. Multivariate cox regression analysis revealed that low PNI was found to be an independent unfavorable prognostic factor for both PFS (HR =0.67; 95% CI, 0.48-0.92, p= 0.015) and OS (HR =1.49; 95% CI, 1.11-2.01, p= 0.008). Other factors including ECOG PS 3 (HR =7.76; 95% CI, 1.73-34.76, p=0.007), induction CT (HR =0.66; 95% CI, 0.49-0.88, p= 0.004), and disease-specific sarcopenia (HR =1.40; 95% CI, 1.02-1.92, p= 0.038) also had independent effects on prognosis.
Conclusion: The present study provides evidence that the presence of sarcopenia and low PNI significantly impacts the prognosis of patients with stage III NSCLC who undergo definitive CRT. Furthermore, our study is notable for being the first multicenter investigation to identify a disease-specific sarcopenia threshold.
Fast superconvergent solvers for weakly singular Hammerstein equations
Authors: Arrai Mohamed , Allouch Chafik , Aslimani Abderrahim
Published: May 2023

This article investigates discrete versions of the projection-type and modified projection-type methods for solving Hammerstein integral equations with a weakly singular kernel. The approximating operator utilized is either the orthogonal projection or an interpolatory projection onto a space of piecewise polynomials of degree ≤ r - 1 with respect to a graded partition of [0, 1]. The study reveals that the proposed methods achieve optimal rates of convergence, demonstrating that the numerical quadrature used to estimate the integrals maintainsthe same rates of convergence as the continuous methods. Thetheoretical findings are supported by numerical experiments.
Mathematics Subject Classification (2010). 41A10, 45G10, 47H30, 65R20.
Interaction Between HCN and Slack Channels Regulates mPFC Pyramidal Cell Excitability and Working Memory
Authors: Wu Jing , El-Hassar Lynda , Datta Dibyadeep , Thomas Merrilee , Zhang Yalan , Jenkins David P. , DeLuca Nicholas J. , Chatterjee Manavi , Gribkoff Valentin K. , Arnsten Amy F.T. , Kaczmarek Leonard K.
Published: May 2023

The ability of monkeys and rats to carry out spatial working memory tasks has been shown to depend on the persistent firing of pyramidal cells in the prefrontal cortex (PFC), arising from recurrent excitatory connections on dendritic spines. These spines express hyperpolarization-activated cyclic nucleotide-gated (HCN) channels whose open state is increased by cAMP signaling, and which markedly alter PFC network connectivity and neuronal firing. In traditional neural circuits, activation of these non-selective cation channels leads to neuronal depolarization and increased firing rate. Paradoxically, cAMP activation of HCN channels in PFC pyramidal cells reduces working memory-related neuronal firing. This suggests that activation of HCN channels may hyperpolarize rather than depolarize these neurons. The current study tested the hypothesis that Na+ influx through HCN channels activates Slack Na+-activated K+ (KNa) channels to hyperpolarize the membrane. We have found that HCN and Slack KNa channels co-immunoprecipitate in cortical extracts and that, by immunoelectron microscopy, they colocalize at postsynaptic spines of PFC pyramidal neurons. A specific blocker of HCN channels, ZD7288, reduces KNa current in pyramidal cells that express both HCN and Slack channels, but has no effect on KNa currents in an HEK cell line expressing Slack without HCN channels, indicating that blockade of HCN channels in neurons reduces K+ +current indirectly by lowering Na+ influx. Activation of HCN channels by cAMP in a cell line expressing a Ca2+ reporter results in elevation of cytoplasmic Ca2+, but the effect of cAMP is reversed if the HCN channels are co-expressed with Slack channels. Finally, we used a novel pharmacological blocker of Slack channels to show that inhibition of Slack in rat PFC improves working memory performance, an effect previously demonstrated for blockers of HCN channels. Our results suggest that the regulation of working memory by HCN channels in PFC pyramidal neurons is mediated by an HCN-Slack channel complex that links activation HCN channels to suppression of neuronal excitability.
Study on Geotechnical Characteristics of Expansive Soil With Plastic Waste and E-waste
Authors: JYOTHIRMAYEE S. , REDDY P. RAJAMOHAN , MAMATHA K. LAKSHMI , VEDAVATHI D. , NAGARJUNA U. , KUMAR B. CHARAN
Published: May 2023

Soil stabilization which ameliorates the properties of soil which can be done by adding some suitable alloys like cement, lime and waste materials such as fly ash, phosphogypsum, plastic etc. The price of these alloys has also gone up, which has considerably aided the development of various soil additives like plastics and e-waste in recent years. The cutting-edge soil stabilisation techniques can be actively employed to address societal concerns, reduce waste production, and produce valuable resources from non-useful waste. The use of plastics, including polythene materials, is expanding quickly and contributing to a number of environmental issues. As a result, the waste ejection which did not pose any environmental risks—has evolved into a genuine provocative act. Because there is a dearth of good quality soil for embankments, using trash as a soil stabiliser is therefore an economical solution.
Here, we tried to look into how the strength characteristics of expansive soil are affected due to plastic waste and electronic waste. On expansive soil containing varied amounts of plastic garbage and e-waste, tests for moisture-density relationships, unconfined compression strengths, and California Bearing Ratio (CBR) are performed. Lastly, we draw the conclusion that using plastic trash and e-waste in combination will weaken expanding soil to varying degrees.
Improvement of Expansive Soil Treated With Pond Ash
Authors: JYOTHIRMAYEE S. , NIHARIKA N. , SETHU G. , MAHATHI L. , MUBARAK P. , KUMAR P. ANIL
Published: May 2023

There is a lot of clay in the broad earth. Lime, iron, magnesium, alumina, and potash make up chemically expanding soil, but they are deficient in nitrogen, phosphorus, and organic matter. They are suitable for growing cotton because they can grip water. This project intended to test various expansive soil properties with pond ash at various percentages of 12%, 24%, 36%, and 48%. On expansive soil samples with varying percentages of pond ash, a series of tests such as the Liquid limit test, Plastic limit test, Standard proctor test, Specific gravity of soil, California Bearing test (CBR), and Unconfined compressive strength are performed. After conducting all of the tests, we discovered that adding pond ash increased the strength of expansive soil by a certain percentage, or 36%, and that as the percentage of pond ash was increased further, the strength of the soil gradually decreased.
Solving Nonlinear Stochastic Itô-Volterra Integral Equations by Balancing Polynomial
Authors: beyranvand zahra
Published: May 2023

This paper describes a technique that uses Balancing polynomials and the corresponding operational matrices. Secondly, the operational matrix is used to transform the nonlinear stochastic Itô-Volterra integral equations into a nonlinear system of algebraic equations amenable to solution using the Newton method. The proposed method is also subjected to an error analysis, and two numerical examples are provided to demonstrate its viability and effectiveness. Numerical outcomes indicate that the suggested method is more accurate than the operation matrix method of Block pulse functions.
Annotated dataset for deep-learning-based bacterial colony detection
Authors: Makrai László , Fodróczy Bettina , Nagy Sára Ágnes , Czeiszing Péter , Csabai István , Szita Géza , Solymosi Norbert
Published: May 2023

Quantifying bacteria per unit mass or volume is a common task in various fields of microbiology (e.g., infectiology, and food hygiene). Most bacteria can be grown on culture media. The unicellular bacteria reproduce by dividing into two cells, which increases the number of bacteria in the population. Methodologically, this can be followed by culture procedures, which mostly involve determining the number of bacterial colonies on the solid culture media that are visible to the naked eye. However, it is a time-consuming and laborious professional activity. Addressing the automation of colony counting by convolutional neural networks in our work, we have cultured 24 bacteria species of veterinary importance with different concentrations on solid media. A total of 57,028 colonies were annotated manually by bounding boxes on the 373 digital images of bacterial cultures.
The published database will help developments that use artificial intelligence to automate the counting of bacterial colonies.
Anterior knee pain and sit-up tests predicts patients’ satisfaction and improvement in quality of life after anterior stabilized total knee replacement without patellar resurfacing
Authors: Barahona Maximiliano , Barrientos Cristian , Alegria Anselmo , Barahona Macarena , Navarro Tomas , Hinzpeter Jaime , Palet Miguel , Zamorano Alvaro , Catalan Jaime , Infante Carlos
Published: May 2023

Purpose
The purpose of this study was to assess patient satisfaction and identify risk factors for dissatisfaction after anterior stabilised conventional total knee arthroplasty (TKA) without patellar resurfacing, using the Goodman score.
Methods
We conducted a cross-sectional study using data from our institutional database from 1 January 2018 to 1 March 2021. Patients who underwent TKA with the Vanguard® Cruciate Retaining Anterior Stabilized Knee System (Zimmer Biomet, Warsaw, Indiana, USA) without patellar replacement were invited to participate. Patients with other bearing surfaces (posterior stabilised or medial congruent) or diagnosed with infection or instability were excluded. Patients' reported outcomes, body mass index (BMI), passive range of motion, the timed up-and-go test, sit-up test, and algometry were assessed. Patients were also asked if they had anterior knee pain. Satisfaction was assessed using the Goodman scale, and logistic multivariate regression was used to identify variables associated with dissatisfaction and a worse perceived improvement in quality of life.
Results
A total of 131 TKA patients were included in the study. The median satisfaction score was 100 (interquartile range [IQR], 87.5 to 100), with the 75-point threshold at the 90th percentile according to Section A of Goodman. Section B of Goodman showed that 113 TKA patients (86.26%) reported "great improvement" or "more than I ever dreamed." Multivariate logistic regression revealed that anterior knee pain (OR 5.16, 95% CI 1.24 to 21.39), the sit-up test (OR 0.63, 95% CI 0.49 to 0.81), and BMI (OR 0.84, 95% CI 0.70 to 0.99) were significantly associated with patient dissatisfaction and a worse perceived improvement in quality of life. The receiver operating characteristics curve for the models had areas under the curve of 0.83 (95% CI 0.69 to 0.97) and 0.82 (95% CI 0.70 to 0.94), respectively.
Conclusion
Anterior stabilised TKA without patellar resurfacing can achieve 90% satisfaction and 86% improvement in quality of life. To improve these results, it is essential to prevent and treat anterior knee pain and enhance quadriceps strength.
Level of evidence: Therapeutic, Level III (retrospective cohort study).
Improved Functionnectome by dissociating the contributions of white matter fiber classes to functional activation
Authors: Nozais Victor , Theaud Guillaume , Descoteaux Maxime , Schotten Michel Thiebaut , Petit Laurent
Published: May 2023

Integrating the underlying brain circuit's structural and functional architecture is required to explore the functional organization of cognitive networks properly. In that regard, we recently introduced the Functionnectome. This structural-functional method combines an fMRI acquisition with tractography-derived white matter connectivity data to map cognitive processes onto the white matter. However, this multimodal integration faces three significant challenges: 1) the definition of the interface between grey and white matter, as the tractography streamlines may fail to reach the grey matter properly; 2) the scrambling effect of crossing fibers on functional signal, as a single voxel in such regions can be structurally connected to several cognitive networks with heterogeneous functional signals; and 3) the difficulty of interpretation of the resulting cognitive maps, as crossing and overlapping white matter tracts can obscure the organization of the studied network. In the present study, we tackled these problems by developing a streamline-extension procedure and dividing the white matter anatomical priors between association, commissural, and projection fibers. This approach significantly improved the characterization of the white matter involvement in the studied cognitive processes. The new Functionnectome priors produced are now readily available, and the analysis workflow highlighted here should also be generalizable to other structural-functional approaches.