bluuebunny/crossref_metadata_2025 huggingface dataset:
Optimized screening of DNA methylation sites combined with gene expression analysis to identify diagnostic markers of colorectal cancer
Authors: Ye Zhen , Song Guangle , Liang Jianwei , Yi Shuying , Gao Yuqi , Jiang Hanming
Published: March 2023

Background
The prognosis of patients with colorectal cancer is related to early detection. However, commonly used screening markers lack sensitivity and specificity. In this study, we identified diagnostic methylation sites for colorectal cancer.
Methods
After screening the colorectal cancer methylation dataset, diagnostic sites were identified via survival analysis, difference analysis, and ridge regression dimensionality reduction. The correlation between the selected methylation sites and the estimation of immune cell infiltration was analyzed. The accuracy of the diagnosis was verified using different datasets and the 10-fold crossover method.
Results
According to Gene Ontology, the main enrichment pathways of genes with hypermethylation sites are axon development, axonogenesis, and pattern specification processes. However, the Kyoto Encyclopedia of Genes and Genomes (KEGG) suggests the following main enrichment pathways: neuroactive ligand–receptor interaction, calcium signaling, and cAMP signaling. In The Cancer Genome Atlas (TCGA) and GSE131013 datasets, the area under the curve of cg07628404 was >0.95. For the NaiveBayes machine model of cg02604524, cg07628404, and cg27364741, the accuracies of 10-fold cross-validation in the GSE131013 and TCGA datasets were 95% and 99.4%, respectively. The survival prognosis of the hypomethylated group (cg02604524, cg07628404, and cg27364741) was better than that of the hypermethylated group. The mutation risk did not differ between the hypermethylated and hypomethylated groups. A weak negative correlation was observed between cg27364741 and hematopoietic stem cell infiltration estimation (r = -0.33, p <0.05).
Conclusion
In cases of colorectal cancer, the main enrichment pathway of genes with hypermethylated sites was axon and nerve development. In the biopsy tissues, the hypermethylation sites were diagnostic for colorectal cancer, and the NaiveBayes machine model of the three loci showed good diagnostic performance. Site (cg02604524, cg07628404, and cg27364741) hypermethylation predicts poor survival for colorectal cancer. Three methylation sites were weakly correlated with individual immune cell infiltration. Hypermethylation sites may be a useful repository for diagnosing colorectal cancer.
P53 expression, Genome-wide transcriptome profiling and LGS test (a blood test to detect cancer): comparison of UVA exposed lymphocytes from malignant melanoma patients and healthy controls.
Authors: Najafzadeh Mojgan , Naeem Parisa , Ghaderi Nader , Jafarinejad Shohreh , Karimi Zahra , Ghaderi Mehran , Akhbari Pouria , Ghaderi Rojan , Farsi Pedram , Wright Andrew , Anderson Diana
Published: March 2023

This study aimed to evaluate the expression of the P53 gene following exposure to varying doses of UVA radiation, using lymphocytes as surrogates. Lymphocytes from malignant melanoma (MM) patients (n = 20) with positive sentinel nodes were compared to healthy controls (HC)(volunteers) (n = 20). These samples were processed by Comet assay following the Lymphocyte Genome Sensitivity (LGS) test, quantitative real-time Polymerase Chain Reaction (qPCR), western blotting and whole genome transcriptome profiling. LGS test evaluates the level of alterations in lymphocytes resulting from continuous exposure to various physical and chemical insults in the blood, promoting DNA damage, ultimately leading to oxidative stress. It is believed that in cancer, the circulatory tumour cells, exosomes and cytokines impact peripheral lymphocytes. The Comet assay performed within the LGS test indicated a significant difference between the lymphocytes from two groups of HC and MM patients. The qPCR data demonstrated an overall 43.8-fold increase in TP53 gene expression in lymphocytes from MM patients after treatment with 0.2mW/cm2 UVA intensity radiation, compared to healthy and untreated controls. Western blotting was used to confirm gene expression. The p53 protein expression was significantly increased in MM lymphocytes after UVA exposure compared to healthy individuals (p-value < 0.05). The genome transcriptome profiling data also displayed differences in gene expression between the UV-treated lymphocytes from healthy groups as compared to melanoma samples. Nine out of the 23 (~ 40%) genes displaying differences in gene expression were mitochondrial genes, which were increased in lymphocytes from MM compared to HCs. The genes that play an important role in oxidative phosphorylation, such as MT-CYB, MT-CO2, MT-ND2, MT-ND6 and MTRNR2L12, were upregulated in lymphocytes from MM patients compared to HCs. The down-regulated genes in lymphocytes from MM, such as MYH9, RN7SL2, ACTB, AHNAK and FLNA, are related to cell structure, migration and tumour metastasis. Peripheral lymphocytes from MM patients are more sensitive and susceptible to the genotoxic effects of UVA compared to healthy individuals. Our previous studies showed that UVA exposure in various intensities distinguishes differences in the level of DNA damage between lymphocytes from cancer patients compared to HCs through the LGS test. The current results provide further credibility to the LGS assay as a screening test for detecting cancer. This feature could be a promising blood biopsy biomarker for staging and preventing carcinomas at early stages.
Prevalence of hepatitis B and C viral co-infection and associated factors with HIV infection in children in South Kivu, Democratic Republic of the Congo
Authors: Miyanga Serge Ahuka , Shindano Tony Akilimali , Shindano Etienne Mwamba , Kyambikwa Célestin Bisangamo , Kabinda Jeff Maotela
Published: March 2023

BACKGROUND
Achieving the World Health Organization's (WHO) 2030 goal of eradicating Hepatitis B and C viruses must also include HIV co-infected children. However, data on the prevalence of this condition are lacking in the Democratic Republic of Congo (DRC), which is considered as one of the high-prevalence countries for these viruses. The need to assess the extent of this co-infection in these children is hence important in order to capitalize on efforts to improve prevention and management.
METHODOLOGY
This was a comparative cross-sectional study conducted from February 04, 2015 to September 03, 2019 in a group of Reference General Hospitals with a pediatric HIV management program in South Kivu province. The study compared the frequency of hepatitis B (HBV) and C (HCV) markers and associated factors for these two viruses in two equal groups : HIV-positive and HIV-negative children. The data were analyzed using SPSS version 20.0 software and the significance level was set at p-value less than 0.05.
RESULTS
The study enrolled a total of 594 children, of whom 297 were HIV-positive and 297 negative. HBsAg was found in 8.7% of HIV-positive patients and 0.7% for HCV antibodies. On the other hand, among HIV-negative patients, the proportion of HBsAg was 0.7% but no cases with anti-HCV antibodies were detected. HIV status increases by 14 times the risk of co-occurring of HBV [OR 14.1 (95% CI: 3.33–60.2); p < 0.001] and this risk is not apparent for HCV (p = 0.297). The fact that the presence of jaundice in the family environment of the patient appears to be associated with HIV status (p = 0.028) strongly suggests that the family context could play an important role in this double contamination.
CONCLUSION
This study documents the importance of co-infection with HBV and HCV in HIV-positive children in South Kivu. Particular attention should be paid to prevention and early detection of these co-infections in this population.
Perspectives on Research Priorities for Linked Prescription Drug Monitoring Program Data: A Survey
Authors: Cummins Mollie , Turcotte Catherine , Pan Huaizhong , Staes Catherine
Published: March 2023

Background: In addition to its clinical value in supporting prescribing decisions, Prescription Drug Monitoring Program (PDMP) data is important for surveillance and research. PDMP data has been used to conduct varied research related to prescribed controlled substances, including topics in epidemiology, addiction, and health services research. There is rich potential to gain further insight by linking PDMP data to additional data resources that include biological, social, environmental, and other variables.The focus of this study was to identify priority research topics, along with examples of research questions, that could be addressed using linked prescription drug monitoring program (PDMP) data which we defined as PDMP data linked to other large clinical, public health or administrative data sets.
Methods: We surveyed researchers affiliated with any of three research-engaged Utah universities, using a web-based survey distributed by e-mail. The survey included demographic questions and questions pertaining to research use of linked PDMP data, generating both structured and free text responses.
Results: The response rate was 11.9% (47/395), and the completion rate was 85.1% (40/ 47). Respondents identified research value corresponding to ten themes reflecting specific domains of discovery and cross-cutting value for research. Respondents support routine linkage of multiple data sources, including new, currently unlinked data sources. They identified multiple high-priority research questions corresponding to eight thematic categories.
Conclusions: Respondents readily identified multiple points of research value, including specific research topics across the translational spectrum, and overall value in establishing a complete record of prescription drug use for populations and individuals. High-priority research questions related to varied dimensions of prescription drug misuse, including its relationship to health outcomes, and advancement of prevention and intervention strategies.
A comparative study of hot and cold executive function between children with growth retardation and normal children
Authors: Liang Yi-qun
Published: March 2023

Objective: to explore the characteristics of executive function in children with growth retardation.
Methods: 46 children with growth retardation were evaluated for cold executive function (dimension change card classification task) and hot executive function (delayed gratification task).
Results: the score of dimension change card classification task (6.83±0.05) was lower than that of the control group, P <0.05; the waiting time of delayed gratification task (80.32±0.03) was lower than that of the control group, P<0.05.
Conclusion: the cold executive function and hot executive function of the children with growth retardation were lower than those of the control group, which had statistical significance.
Progressive multifocal leukoencephalopathy in a patient with B-cell chronic lymphocytic leukemia after Covid 19 vaccination, complicated with Covid-19 and mucormycosis: a case report
Authors: Amirifard Hamed , Shahbazi Mojtaba , Ranjbar Zahra , Kaeedi Maryam , Havadaragh Sanaz Heydari , Farahmand Ghasem
Published: March 2023

Background: Progressive multifocal leukoencephalopathy (PML) is an opportunistic viral demyelinating infectious disease of the central nervous system (CNS) which is rare & fetal. There is various clinical presenting symptoms for the disease.
Case presentation: This paper presents a clinical case of PML in a patient with B-CLL in remission, previously treated with Chlorambucil that complicated later in disease course with Covid-19 and mucormycosis.
Conclusion: like many other viruses, the more relevant immune-competent cells in host defense against JCV, appear to be T cells. This issue is recently also suggested in Covid 19 patients which a dissociation between severity and seroconversion has been reported. The case reported due to its rarity and multiple challenges in its diagnosis and treatment.
Impacts of age on the gut microbiota in captive giant pandas
Authors: Li Huixin , Lu Kangning , Li Guo , Li Ti , Zhang Le , Li Chao , Xie Qingyang , Liu Huaiting , Zhang Xinxing , Gong Minghao , Liu Gang , Zhang Guiquan
Published: March 2023

The gut microbiota is the most complex and most abundant symbiotic microbial ecosystem in animals. Aging is one of the main factors that cause gut microbiota structure changes, and the relationship between age and the gut microbiota in the giant panda has been a key focus of attention. The giant panda has a specialized diet of bamboo, and it relies on the microbiota that colonizes its gut to complete digestion. However, there is no in-depth understanding of the changes in the gut microbiota across the lifespan of giant pandas. Here, we identified the differences in the gut microbiota between four age groups (cubs, juveniles, adults, and geriatrics) using 16S rRNA gene high-throughput sequencing on an Illumina MiSeq platform. The results revealed that Firmicutes (mean ± SD: 65.45 ± 30.21%; range: 0.91–99.62%) and Proteobacteria (mean ± SD: 31.49 ± 27.99%; range: 0.26–85.35%) were the dominant phyla. The relative abundance of Escherichia-Shigella was high in both the cubs and juveniles. It is interesting to note that the adults had the highest richness and lowest diversity, while the cubs had the opposite. In summary, our study indicates that the gut microbial community composition, abundance, and functional pathways differ across four age groups of giant pandas. Exploring the influence of age, an endogenous influencing factor, on gut microbes provides basic scientific data for monitoring gut microbial dynamics and formulating gut microbial health management approaches, thereby improving the protection of giant pandas.
Workplace barriers and facilitators to nurses’ healthy eating behaviour: Qualitative Systematic Review
Authors: Sajwani Arsheen , Alomari Albara , Hashi Fatima , Fawzy Eman , alananzeh Ibrahim
Published: March 2023

Background: Workplace environment has greatly impacted the eating practices of nurses that led to them being overweight and obese. Obesity still exists because of the unhealthy eating habits in the workplace – which eventually effects patients’ care, nurses’ health, and one’s capability to work properly. The aim is to conduct a systematic review to find the healthy eating barriers and facilitators among nurses in the clinical workplace.
Methods:This review was conducted using the Joanna Briggs Institute methodology for systematic reviews. Sources searched through eight electronic databases: PROQUEST CENTRAL, SCIENCEDIRECT, MEDLINE, CINAHL, PsycINFO, WEB SCIENCE, PUB MED and SCOPUS were conducted. All articles were imported into JBI SUMARI for screening purpose. Quality appraisal of the included articles were performed through JBI critical appraisal checklist for qualitative studies. All findings of the included articles were extracted through the JBI data extraction tool.
Results: Nine qualitative studies were included in the review. The experiences of488 nurses generated a total of 37 findings. Two synthesized findings were generated from the categories: (i) Barriers to healthy eating; and (ii) Facilitators to healthy eating. Most studies reported facilitators and barriers to healthy eating. Most of the barriers and the facilitator were related to the organization (night shift and long working hours), personal, physical workplace environment and social.
Conclusions: The review results, illustrate clear direction to promote healthy eating on organizational, personal, environmental, and social levels that are attainable in a workplace.
Registration: PROSPERO International prospective register of systematic reviews, ID: CRD42022309259
The effects of hemodialysis on the functional brain connectivity in patients with end–stage renal disease: A functional near–infrared spectroscopy study
Authors: Park Kang Min , Heo Chang Min , Lee Yoo Jin , Park Sihyung , Kim Yang Wook , Lee Dong Ah , Park Bong Soo
Published: March 2023

Background: This study aimed to investigate functional brain connectivity in patients with end–stage renal disease (ESRD) undergoing hemodialysis using functional near–infrared spectroscopy (fNIRS) and to analyze the effect of hemodialysis on functional brain connectivity.
Methods: We prospectively enrolled patients with ESRD undergoing hemodialysis for >six months without any history of neurological or psychiatric disorders. fNIRS data were acquired using a NIRSIT Lite device. Measurements were performed thrice in the resting state for each patient: before the start of hemodialysis (pre–HD), 1 h after the start of hemodialysis (mid–HD), and after the end of hemodialysis (post–HD). We processed and exported all data and created a weighted connectivity matrix using Pearson correlation analysis. We obtained functional connectivity measures from the connectivity matrix by applying a graph theoretical analysis. Then, we compared differences in functional connectivity measures according to hemodialysis in patients with ESRD.
Results: We included 34 patients with ESRD. There were significant changes in the mean clustering coefficient, transitivity, and assortative coefficient between the pre– and post–HD periods (0.353 vs. 0.399, p=0.047; 0.523 vs. 0.600, p=0.042; and 0.043 vs. –0.012, p=0.044, respectively). However, there were no changes in the mean clustering coefficient, transitivity, and assortative coefficient between the pre– and mid–HD periods and between the mid– and post–HD periods. In addition, there were no significant differences in the average strength, global efficiency, and local efficiency among the pre–, mid–, and post–HD periods.
Conclusions: We demonstrated a significant effect of hemodialysis on functional brain connectivity in patients with ESRD. Functional brain connectivity changes more efficiently during hemodialysis.
Altered hippocampal intra-networks in mild cognitive impairment: a structural MRI study in a general elderly Japanese population
Authors: Kasai Sera , Watanabe Keita , Umemura Yoshihito , Ishimoto Yuka , Sasaki Miho , Nagaya Haruka , Tatsuo Soichiro , Mikami Tatsuya , Tamada Yoshinori , Ide Satoru , Tomiyama Masahiko , Kakeda Shingo
Published: March 2023

Although altered networks inside the hippocampus (hippocampal intra-networks) have been observed in dementia, the evaluation of hippocampal intra-networks using magnetic resonance imaging (MRI) is challenging. We employed conventional structural imaging and incident component analysis (ICA) to investigate the structural covariance of the hippocampal intra-networks. We aimed to assess altered hippocampal intra-networks in patients with mild cognitive impairment (MCI). A cross-sectional study of 2122 participants with 3T MRI (median age 69 years, 60.9% female) were divided into 218 patients with MCI and 1904 cognitively normal older adults (CNOA). By employing 3D T1-weighted imaging and ICA, we extracted the structural covariance intra-networks in the hippocampus. The ICA extracted 16 intra-networks from the hippocampal structural images, which were divided into two bilateral networks and 14 ipsilateral networks. Of the 16 intra-networks, four (one bilateral network and three ipsilateral networks) were significant predictors of MCI from the CNOA after adjusting for age, sex, education, disease history, and hippocampal volume/total intracranial volume ratio. In conclusion, we found that the relationship between hippocampal intra-networks and MCI was independent from the hippocampal volume. Our results suggest that altered hippocampal intra-networks may reflect a different pathology in MCI from that of brain atrophy.
Comparative assessment of the biological activity of the green synthesized silver nanoparticles and aqueous leaf extract of Perilla frutescens (L.)
Authors: Tavan Mansoureh , Hanachi Parichehr , Mirjalili Mohammad Hossein , Dashtbani-Roozbehani Abolfazl
Published: March 2023

Green synthesized‎ nanoparticles (GSNPs) display fascinating properties compared to physical and chemical synthesized ones. GSNPs‎ are currently used in numerous applications such as food packaging, surface ‎coating agents, environmental remediation, antimicrobial, and medicine. In the present ‎study, the aqueous leaf extract of Perilla frutescens L. having suitable capping, reducing, and stabilizing compounds was used for green synthesis of silver nanoparticles (Pf-AgNPs).‎‏ ‏The ‎bioreductant capacity of aqueous leaf extract of P. frutescens for Pf-AgNPs was determined by ‎different confirmatory techniques including‎ UV-Visible spectroscopy, XRD, FESEM, EDX‎, zeta potential, DLS, SERS, and FTIR‎ analysis. The results exhibited that Pf-AgNPs had optimal size (< 61nm), shape (spherical), and ‎stability (-18.1 mV). The antioxidant activity of Pf-AgNPs with both DPPH and FRAP assays ‎was significantly higher compared to P. frutescens ‎extract. Furthermore, Pf-AgNPs had high antimicrobial activity against ‎Escherichia coli and Staphylococcus aureus (MIC=‎ ‎‎0.78 mg/mL), and Candida albicans (MIC=‎ ‎‎8 ‎mg/mL)‎ while the plant ‎extract showed ‎low antimicrobial activity‎ against both bacterial strains and the fungus tested. Pf-AgNPs ‎and P. frutescens ‎extract also ‎exhibited moderate toxicity on MCF-7‎ cancer cells‎ with IC50 values ‎of ‎346.2‎ and ‎467.4 µg/mL‎, respectively. The results provide insights into using the biosynthesized Pf-AgNPs as an eco-friendly material for a wide range of biomedical applications.
Nurse- and self-collected dried blood spots for the assessment of cardiovascular risk factors: A randomised study of the Understanding Society Innovation Panel
Authors: Kumari Meena , Andrayas Alexandria , Baghal Tarek Al , Burton Jonathon , Crossley Thomas F. , Jones Kerry S. , Parkington Damon A. , Koulman Albert , Benzeval Michaela
Published: March 2023

Background
Dried blood spot (DBS) sample collection has been suggested as a less invasive, cheaper and more convenient alternative to venepuncture, which requires trained personnel, making it a potentially viable approach for self-collection of blood on a large scale. We examine whether participants in a longitudinal survey were willing to provide a DBS sample in different interview settings, and how resulting cardiovascular risk biomarkers compared with those from venous blood to calculate clinical risk.
Methods
Participants of the Understanding Society Innovation Panel, a representative sample of UK households, were randomly assigned to three modes of interview. Most participants (84%) were interviewed in their allocated mode. Participants (n = 2162) were interviewed by a nurse who collected both a blood sample by venepuncture and a DBS card (‘nurse collection’) or participants were seen by an interviewer or took part in the survey online to self-collect a DBS card (‘self-collection’). All DBS cards were returned in the post after the sample had dried. Lipids (total cholesterol, HDL-cholesterol, triglycerides), HbA1c and C-reactive protein were measured in venous and DBS samples and equivalence calculated. The resultant values were used to confirm equivalent prevalence of risk of cardiovascular disease in each type of blood sample by mode of participation.
Results
Of participants interviewed by a nurse 69% consented to venous blood sample and 74% to a DBS sample, while in the self-collection modes, 35% consented to DBS collection. Demographic characteristics of participants in self-collection mode was not different to those in nurse collection mode. The percentage of participants with clinically raised biomarkers did not significantly differ between type of blood collection (for example, 62% had high cholesterol (> 5 mmol/l) measured by venepuncture and 67% had high cholesterol within the self-collected DBS sample (p = 0.13)).
Conclusion
While self-collected DBS sampling had a lower response rate to DBS collected by a nurse, participation did not vary by key demographic characteristics. This study demonstrates that DBS collection is a feasible method of sample collection that can provide acceptable measures of clinically relevant biomarkers, enabling the calculation of population levels of cardiovascular disease risk.
The Burden of Musculoskeletal Disorders in The Middle East and North Africa (MENA) Region: A Longitudinal Analysis from The Global Burden of Disease Dataset 1990 - 2019
Authors: Al-Ajlouni Yazan , Al-Ta'ani Omar , Mushasha Rand , Lee Justin , Capoor Jaishree , Kapadia Mitul , Alejandro Ruth
Published: March 2023

Background Musculoskeletal (MSK) disorders are one of the main causes of disability among adults globally. The burden of MSK disorders varies greatly between different regions and is the highest in low- and middle income- countries. This study sought to investigate trends in the burden of MSK disorders across the MENA region, utilizing the GBD 2019 dataset. Methods This study utilized data from the Global Burden of Disease (GBD). Using age standardized rates of prevalence and disability-adjusted life-years (DALYs), we report trends in the burden of MSK disorders in The Middle East and North Africa (MENA) region between 1990 and 2019. Furthermore, we analyze trends in risk factors contributing to MSK disorders. Results In 2019, the age-standardized rate prevalence and DALYs for all MSK disorders among both genders was 17706 [95% UI = 16641, 18794] and 1782 [95% UI = 1278, 2366], respectively. Low back pain continued to be the most prevalent MSK condition in 2019. Afghanistan had the lowest age standardized DALYs rate attributed to MSK disorders (1408 per 100,000; 95% UI = 980–1899), while Iran had the highest burden of 2007 per 100,000 (95% UI = 1440–2655). In 2019, occupational risks, high body mass index, and tobacco smoking were the main risk factors for DALYs of MSK disorders. Conclusion MSK disorders carry a large burden of disease in the MENA region, and multiple risk factors contribute to this increased burden in the past decades. Interventions that address risk factors have the potential to improve health outcomes among the population. Future research should continue to explore the burden of MSK disorders and better understand how to intervene.
Deletion of Tet1 in Mice with Impaired Prefrontal Cortex Functions by Activating the NGF/TrkA Signaling Pathway
Authors: Bi Yanhua , Gao Hui , Bi Yanhua
Published: March 2023

Tet1 (ten-eleven translocation methylcytosine dioxygenase 1) is the enzyme methylcytosine dioxygenase of DNA demethylation in the nervous system. Tet1 controls and mediates gene transcription, memory formation, and extinction. However, little is known about Tet1 in prefrontal cortex (PFC) functions especially in the medial prefrontal cortex (mPFC), which controls cortex flexibility and emotional reactivity in the CNS. This study conducted behavioral tests including an open field test, sociability and social novelty preference tests, social dominance, and prepulse inhibition test to examine brain functions, especially PFC functions after the deletion of Tet1. The mPFC from Tet1 KO mice and WT adult mice was analyzed using qRT-PCR to assess neuron growth-related genes, including Gsk3β, Pi3k, Crx4, Fgfr1, Fgfr2, Egfr, Dbn1, Akt2, Vegf, Vegfr, and Akt3. Subsequently, primary PFC neuronal cells were administered shTet1 to knockdown the Tet1 gene and function. We found that the deletion of Tet1 in the mouse brains impaired social interaction, novelty, and prepulse inhibition (PPI) in the mice. Knockdown of the Tet1 gene influenced the growth and complexity of neurons. The increase in Ngf and Bdnf by Western blotting were found in Tet1 deficient mice. The results support and complement the view that Tet1 deficiency may be related to schizophrenia.
Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm
Authors: Baek Rong-Min , Cho Anna , Chung Yoon Gi , Jeon Yonghoon , Kim Hunmin , Hwang Hee , Myung Yujin
Published: March 2023

Purpose: The early detection and diagnosis of rare genetic diseases are crucial for maintaining patient health and well-being. However, the diagnosis of said diseases can be challenging owing to their rarity, limited clinical experience of physicians, and specialized facilities required for diagnosis. In recent years, deep learning algorithms have been investigated as a potential strategy for the efficient and accurate diagnosis of these diseases. Herein, we used the deep learning algorithm of multitask cascaded convolutional neural networks (MTCNN) to develop a face recognition model for the diagnosis of velocardiofacial syndrome (VCFS).
Methods: We trained the model on a publicly available labeled face dataset and evaluated its performance. Subsequently, we analyzed the binary classification performance of diagnosing VCFS using the most efficient face recognition model. The facial images of 98 patients with VCFS and 91 non-VCFS controls who visited Seoul National University were used to create training and test sets. Moreover, we analyzed whether the classification results matched the known facial phenotype of patients with VCFS.
Results: The facial recognition model showed high accuracy, ranging from 94.03% to 99.78%, depending on the training dataset. In contrast, the accuracy of the binary classification model for the diagnosis of VCFS varied from 80.82% to 88.02% when evaluating with photographs taken at various angles of the patient depending on the structure. When only evaluating frontal photographs, the accuracy was 95.00%. Moreover, the importance level analyzed through the gradient-weighted class activation mapping heatmap showed the characteristic parts of perinasal and periorbital area to be consistent with the conventional facial phenotypes of VCFS.
Conclusion: We attempted to diagnose the patients' genetic syndrome using MTCNN-based deep learning algorithms only with the photos of the faces of patients with VCFS. We obtained high accuracy, and deep learning-based diagnosis has been conformed to be greatly helpful for medical staff in the early detection and diagnosis of children with rare genetic diseases, enabling them to provide treatment in a timely manner.
Responses of Yield, Quality and Water Use Efficiency of Potato Grown Under Different Drip Irrigation and Nitrogen Levels
Authors: AKKAMIS Mustafa , CALISKAN Sevgi
Published: March 2023

Proper irrigation and fertilization are essential to achieve high tuber yield and quality in potato production. Water and nitrogen are required to be improved due to high costs of these agricultural inputs. This study aimed to optimize the use of water and nitrogen in potato to ensure high water use efficiencies as well as achieve optimum yield and tuber quality. Potato plants were subjected to three irrigation treatments, 100% (S100), 66% (S66) and 33% (S33) of field capacity and six N levels, 0 (N0), 100 (N1), 200 (N2), 300 (N3), 400 (N4) and 500 (N5) kg N ha− 1. Yield, growth parameters and tuber quality were generally more sensitive to irrigation than nitrogen. The highest total tuber yield was obtained under full irrigation with an application of 300 kg N ha− 1. Plants indicated higher values for yield and growth parameters in full irrigation applications, and significantly lower values were obtained at low irrigations. On the contrary, the full irrigation (S100) application caused a decrease in quality characteristics compared to low irrigations (S66 and S33). Water levels treatments indicated that S66 had the highest mean value of WUE in both years. These results indicated that potato can be produced with acceptable yields while saving irrigation water and certain nitrogen level.
A chimeric vaccine protects saltwater crocodiles (Crocodylus porosus) from skin lesions caused by West Nile virus
Authors: Hall Roy , Habarugira Gervais , Harrison Jessica , Moran Jasmin , Colmant Agathe , Hobson-Peters Jody , Isberg Sally , Bielefeldt-Ohmann Helle , Suen Willy
Published: March 2023

West Nile virus (WNV) causes skin lesions in farmed crocodiles leading to depreciation of the value of their hides and significant economic losses. However, there is no commercially available vaccine designed for use in crocodilians against WNV. We tested chimeric virus vaccines composed of the non-structural genes of the insect-specific flavivirus Binjari virus (BinJV) and genes encoding the structural proteins of WNV. The BinJV/WNV chimera, is antigenically similar to wild-type WNV but replication-defective in vertebrates. Subcutaneous application of two doses of BinJV/WNV in hatchling saltwater crocodiles (Crocodylus porosus) elicited a robust neutralising antibody response and conferred protection against viremia and skin lesions after challenge with WNV. In contrast, mock-vaccinated crocodiles became viraemic and 22.2% exhibited WNV-induced lesions. This suggests that the BinJV/WNV chimera is a safe and efficacious vaccine preventing WNV-induced skin lesions in farmed crocodilians. This is the first report of a vaccine that protects reptiles against viral infection.
CXCL5 and CXCL14, but not CXCL16 as potential non-invasive biomarkers of colorectal cancer?
Authors: Zajkowska Monika , Dulewicz Maciej , Kulczyńska-Przybik Agnieszka , Safiejko Kamil , Juchimiuk Marcin , Konopko Marzena , Kozłowski Leszek , Mroczko Barbara
Published: March 2023

Purpose
Experts emphasize that incidence and mortality of colorectal cancer (CRC) is increasing. That is why, its early detection is of utmost importance. Patients with cancer diagnosed in earlier stages have better prognosis and chance for faster implementation of treatment. Consequently, it is vital to search for new parameters that could be useful in its diagnosis.
Methods
Therefore, we evaluated the usefulness of CXCL5, CXCL14 and CXCL16 in serum of 115 subjects (75 CRC patients and 40 healthy volunteers). Concentrations of all parameters were measured using Luminex. CRP levels were determined by immunoturbidimetry, while levels of classical tumor markers were measured using CMIA.
Results
Concentrations of CXCL5 were statistically higher in CRC group when compared to healthy controls. The diagnostic sensitivity, specificity, positive and negative predictive value, and area under the ROC curve (AUC) of CXCL5 and CXCL14 were higher than those of CA 19 − 9.
Conclusions
Obtained results suggest the usefulness of CXCL5 and CXCL16 in the determination of distant metastases and differentiation between TNM stages, as well as usefulness of CXCL14 and CRP combination in CRC detection. However, further studies concerning their role in CRC progression are crucial to confirm and explain their diagnostic utility and clinical application as biomarkers.
Performance Evaluation of DL-based Models for LULC segmentation using SAR time series data of regions in Gujarat
Authors: Jain Swati , Varghese Nebu , Joshi Kimee , Kathiria Preeti , Garg Sanjay , Putrevu Deepak , Pandey Dharmendra
Published: March 2023

Both spatial and non-spatial data are critical to a country's social and economic development. Land use and land cover (LULC) maps are data that can be used to retrieve land information and detect environmental changes. Several recent studies have used deep learning approaches to generate LULC maps from various remote-sensing image formats. They have correctly recognized several land cover elements such as built-up areas, forests, water, etc. On the other hand, spaceborne radar images must be used to test deep learning methods because radar sensors operate in all weather and lighting circumstances and have diverse image characteristics depending on the wavelength. Although many researchers have applied deep learning techniques to classify the land cover features, most of them need to do more by taking less or more several land cover features and taking proper evaluation metrics to justify the classification techniques. The current research shows segmentation on Sentinel-1 C-band synthetic aperture radar (SAR) images of Gujarat's Ahmedabad, Anand, and Kheda regions using four deep-learning models. U-Net, SegNet, FCN, and DeepLabV3+ have primarily been employed in prior research to classify SAR and other satellite image formats and showed excellent results in identifying different land cover features. Training samples of five primary classes for ground-truth data were obtained using Google Earth and Sentinel-2 images as reference maps. For segmenting the Sentinel-1 image, above mentioned four deep-learning semantic segmentation models were chosen and fine-tuned. All models did exceptionally well, with overall accuracy ranging from 76% to 90%. U-Net fared well, followed by DeepLabV3+ in classifying all five land cover features, with mean intersection over union (IoU) of 0.67 and 0.55, respectively. The results reveal that using a self-generated reference map, the Sentinel-1 dual-pol images can categorize the primary land cover features.
Impact of topography and land cover on air temperature space-time variability in an urban environment with contrasted topography (Dijon, France, 2014–2021)
Authors: Crétat Julien , Richard Yves , Pohl Benjamin , Emery Justin , Dudek Julita , Roy Damien , Pergaud Julien , Rega Mario , Poupelin Mélissa , Joly Daniel , Thévenin Thomas , Marquès Eva , Masson Valéry
Published: March 2023

The influence of topography and land cover on air temperature space-time variability is examined in an urban environment with contrasted topography through simple and multiple linear regression (SLR and MLR) models ran for each hour of the period 2014–202 to explain air temperature spatial patterns observed by a dense in-situ network. The SLR models reveal a complementary influence of topography and land cover, with largest influence during daytime and nighttime, respectively. The MLR significantly improves upon the SLR models despite persistent intensity errors at night and spatial errors in the early morning. Topography influences air temperatures all year round, with an adiabatic gradient during the day and frequent thermal inversions at night (up to 30% of the time). Impervious surfaces are more influential in summer and early fall, especially during the late afternoon for the fraction covered by buildings, and during the early night for distance from the city centre. They contribute to warm air temperature close to the city centre and where the fraction covered by buildings increases. On the other hand, vegetation contributes to cool air temperature during the night, especially in spring and early summer for field crops, summer and early fall for forests and water, and late fall and winter for low vegetation. Our framework proves to be a low-cost and efficient way to understand the static drivers of air temperature along the annual and diurnal cycles, and is easily transposable to other areas and study fields, such as viticultural environments to further understand spring frost events.
Exploring the prognostic efficacy of machine learning models in predicting adenocarcinoma of the esophagogastric junction
Authors: Gao Kaiji , Wang Yihao , Cao Haikun , Xiang Zheng , Zhang Xinxin , Jia Jianguang
Published: March 2023

This study investigated the predictive performance of machine learning models for adenocarcinoma of esophagogastric union (AEG), based on 287 AEG patient data collected clinically. After grouping, Cox proportional hazards regression model (Cox-PH) and four machine learning models were constructed and internally validated. The AUC values of 3-year survival rate in validation set of Cox-PH, extreme gradient boosting (XGBoost), Random Forest (RF), support vector machines (SVM), and Multi-layer Perceptron (MLP) were 0.870, 0.901, 0.791, 0.832 and 0.725, respectively. The AUC values of 5-year survival rate in validation set of each model were 0.915, 0.916, 0.758, 0.905 and 0.737. The internal validation AUC values of the four machine learning models, XGBoost, RF, SVM and MLP were 0.818, 0.772, 0.804 and 0.745, respectively. In conclusion, compared with Cox-PH, machine learning models do not need to meet proportional assumption or linear regression model, and can include more influencing variables, which has good predictive performance for the 3-year and 5-year survival rate of AEG patients, among which XGBoost model is the most stable and has obvious superiority in prediction performance than other machine learning methods, practical and reliable.
Deep Learnıng-Based Sustaınable Subsurface Anomalıes Detectıon In Barker-Coded Thermal Wave Imagıng
Authors: Parvez Muzammil , Mohammad Ali Baig , Ghali Venkata Subba Rao , Yadav Chandra Sekhar , Vesala Gopi Tilak , Lakshmi Atala Vijaya , Alagarsamy Aravindhan , Palanisamy Sivasubramanian , Kechagias John , Santulli Carlo
Published: March 2023

Deep learning-based sustainable subsurface anomaly detection is the perceiving of thermographic research. Subsurface detection of an anomaly in various materials using deep learning increases reliability. This article aims to describe a method that uses thermal wave imaging to identify subsurface anomalies in materials. The proposed method is based on the experiments that were carried out with different kinds of samples and have been compared to other modern techniques for detecting subsurface anomalies. Subsurface anomalies visualized using the proposed deep learning method give better visualization, and the results were compared to that of contemporary approaches. In addition, region-based active contour segmentation-based detection is also proposed for the GFRP sample.
Development of WAAM process: slicer, robot trajectories, and examples of parts
Authors: BOLOT Rodolphe , MATHIEU Alexandre , SIMON Maxime
Published: March 2023

This work is devoted to Wire Arc Additive Manufacturing processing. The question of automatic generation of robot trajectories is mainly addressed. An in-house slicer was first developed. Once the part to be manufactured has been designed and converted into STL format, the slicer allows automatic generation of successive vertices defining the part contours and corresponding robot trajectories. Automatic generation of the robot program is then performed including displacement instructions written in KRL language (case of KUKA robots), as well as commands related to the CMT welding device. The different steps in the offline programming pre-treatment process are first described. In a second step, two distinct parts with increasing degrees of complexity were printed using the corresponding offline programming tool. Finally, the question of the scanning strategy is discussed, the manufactured parts are shown, and required further improvements are explained.
The Safety and Feasibility of Mediterranean-Ketogenic Dietary Interventions on Gut Health in Parkinson’s Disease: A Protocol for an Open-label, Randomized, Crossover Design Clinical Trial (KIM Trial)
Authors: Keymanesh Shayan , Tosefsky Kira , Lam Joyce S. T. , Metcalfe-Roach Avril , Uzelman Petra , Sacheli Matthew , Tetzlaff Wolfram , Cohen Tamara R. , Wellington Cheryl , Finlay B. Brett , Appel-Cresswell Silke
Published: March 2023

Background
Parkinson’s disease (PD) is the second most common neurodegenerative disorder worldwide, characterized by a constellation of motor and non-motor symptoms. The etiology of PD is not fully understood, however, the early presence of gastrointestinal symptoms and alterations in the gut microbiome suggest a possible intestinal origin. Another pathophysiological feature of PD is an inefficient utilization of glucose by neuronal cells as the main energy source leading to bioenergetic deficits of the brain. Dietary interventions such as the Mediterranean (MeDi) diet and the ketogenic diet (KD) have shown promise in alleviating the gastrointestinal symptoms and bioenergetics deficits of PD, respectively. Nonetheless, classical KDs may unfavorably alter the gut microbiome, e.g., by decreasing short-chain fatty (SCFA) acid levels. Hence, combining the principles of the MeDi and KD may allow us to harness the potential benefits of both these dietary interventions, while maintaining gut health.
Methods
This study will utilize an open-label, randomized, cross-over design to investigate the safety and feasibility of the Mediterranean-ketogenic diet (MeDi-KD) and MeDi diet supplemented with medium-chain triglycerides (MeDi-MCT) in 50 participants diagnosed with PD. Participants will be randomized to start with either the MeDi-KD or the MeDi-MCT intervention. They will adhere to the respective dietary regimens for 8 weeks followed by an 8-week washout period wherein they will return to their pre-study dietary habits. Following the washout period, the participants will start the other dietary intervention for another 8 weeks. Fecal and blood samples will be collected before and after each intervention to examine the biomarkers associated with gut health. The primary outcome measure of this study will be changes from baseline in fecal SCFA levels, particularly butyrate.
Discussion
The primary objective of this study is to investigate the safety of two Mediterranean-ketogenic interventions with respect to gut microbiome health in patients with PD. This study will provide preliminary evidence and guidance for subsequent large-scale clinical trials investigating multi-pronged dietary interventions to treat PD. If successful, it will de-risk future studies on ketogenic interventions by providing vital information about the safety, tolerability, adherence, and feasibility of the MeDi-KD and MeDi-MCT.
Trial Registration
ClinicalTrials.gov Identifier: NCT05469997
C1ql1-Bai3 signaling is necessary for climbing fiber synapse formation in mature Purkinje cells in coordination with neuronal activity
Authors: Aimi Takahiro , Yuzaki Michisuke
Published: March 2023

Changes in neural activity induced by learning and novel environments have been reported to lead to the formation of new synapses in the adult brain. However, the underlying molecular mechanism is not well understood. Here, we show that Purkinje cells (PCs), which have established adult-type monosynaptic innervation by climbing fibers (CFs) after elimination of weak CFs during development, can be reinnervated by multiple CFs by increased expression of the synaptic organizer C1ql1 in CFs or Bai3, a receptor for C1ql1, in PCs. In the adult cerebellum, CFs are known to have transverse branches that run in a mediolateral direction without forming synapses with PCs. Electrophysiological, Ca2+-imaging and immunohistochemical studies showed that overexpression of C1ql1 or Bai3 caused these CF transverse branches to elongate and synapse on the distal dendrites of mature PCs. Mature PCs were also reinnervated by multiple CFs when the glutamate receptor GluD2, which is essential for the maintenance of synapses between granule cells and PCs, was deleted. Interestingly, the effect of GluD2 knockout was not observed in Bai3 knockout PCs. In addition, C1ql1 levels were significantly upregulated in CFs of GluD2 knockout mice, suggesting that endogenous, not overexpressed, C1ql1-Bai3 signaling could regulate the reinnervation of mature PCs by CFs. Furthermore, the effects of C1ql1 and Bai3 overexpression required neuronal activity in the PC and CF, respectively. C1ql1 immunoreactivity at CF-PC synapses was reduced when the neuronal activity of CFs was suppressed. These results indicate that C1ql1-Bai3 signaling mediates CF synaptogenesis in mature PCs in concert with neuronal activity.