bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan
Authors: Higa Natsuki , Hayashi Takaaki , Mizobuchi Kei , Iwasa Maki , Kubota Shingo , Kuniyoshi Kazuki , Kameya Shuhei , Kondo Hiroyuki , Kondo Mineo , Nakano Tadashi 
Published: September 2024

IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital amaurosis (LCA).Case reportThe patient, diagnosed with LCA, exhibited infantile nystagmus and reported experiencing night blindness since early childhood. At 27 years of age, the patient underwent an ophthalmologically evaluation. Corrected visual acuity was Snellen equivalent 20/133 in the right eye and Snellen equivalent 20/100 in the left eye. Fundus examination revealed alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels. Fundus autofluorescence imaging demonstrated a generally diminished autofluorescent signal. Full-field electroretinography identified a generalized dysfunction of both rod and cone systems in each eye. Whole exome sequencing identified a novel missense variant in RPE65 (NM_000329.3): c.1172C &gt; A p.(Ala391Asp), which was classified as pathogenic, as well as a recurrent variant p.(Arg515Trp).ConclusionThis study provides valuable insights into the genotype–phenotype correlation of RPE65-associated LCA in Japanese patients, with critical implications for enhanced diagnostic accuracy and informed therapeutic decisions.
Unconscious classification of quantitative electroencephalogram features from propofol versus propofol combined with etomidate anesthesia using one-dimensional convolutional neural network
Authors: Zhou Pan , Deng Haixia , Zeng Jie , Ran Haosong , Yu Cong 
Published: September 2024

ObjectiveEstablishing a convolutional neural network model for the recognition of characteristic raw electroencephalogram (EEG) signals is crucial for monitoring consciousness levels and guiding anesthetic drug administration.MethodsThis trial was conducted from December 2023 to March 2024. A total of 40 surgery patients were randomly divided into either a propofol group (1% propofol injection, 10 mL: 100 mg) (P group) or a propofol-etomidate combination group (1% propofol injection, 10 mL: 100 mg, and 0.2% etomidate injection, 10 mL: 20 mg, mixed at a 2:1 volume ratio) (EP group). In the P group, target-controlled infusion (TCI) was employed for sedation induction, with an initial effect site concentration set at 5–6 μg/mL. The EP group received an intravenous push with a dosage of 0.2 mL/kg. Six consciousness-related EEG features were extracted from both groups and analyzed using four prediction models: support vector machine (SVM), Gaussian Naive Bayes (GNB), artificial neural network (ANN), and one-dimensional convolutional neural network (1D CNN). The performance of the models was evaluated based on accuracy, precision, recall, and F1-score.ResultsThe power spectral density (94%) and alpha/beta ratio (72%) demonstrated higher accuracy as indicators for assessing consciousness. The classification accuracy of the 1D CNN model for anesthesia-induced unconsciousness (97%) surpassed that of the SVM (83%), GNB (81%), and ANN (83%) models, with a significance level of p &lt; 0.05. Furthermore, the mean and mean difference ± standard error of the primary power values for the EP and P groups during the induced period were as follows: delta (23.85 and 16.79, 7.055 ± 0.817, p &lt; 0.001), theta (10.74 and 8.743, 1.995 ± 0.7045, p &lt; 0.02), and total power (24.31 and 19.72, 4.588 ± 0.7107, p &lt; 0.001).ConclusionLarge slow-wave oscillations, power spectral density, and the alpha/beta ratio are effective indicators of changes in consciousness during intravenous anesthesia with a propofol-etomidate combination. These indicators can aid anesthesiologists in evaluating the depth of anesthesia and adjusting dosages accordingly. The 1D CNN model, which incorporates consciousness-related EEG features, represents a promising tool for assessing the depth of anesthesia.Clinical Trial Registrationhttps://www.chictr.org.cn/index.html.
Elevated neopterin and decreased IL-4, BDNF levels and depression in lymphoma patients receiving R-CHOP chemotherapy
Authors: Mishra Pinki , Bhurani Dinesh , Nidhi  
Published: September 2024

ObjectiveDepression is the most commonly observed psychological manifestation experienced by individuals diagnosed with cancer. The purpose of the study was to investigate the association between levels of IL-4, BDNF, neopterin, and depressive symptoms in lymphoma patients receiving consecutive cycles of chemotherapy.MethodsNewly diagnosed lymphoma patients scheduled to receive R-CHOP chemotherapy were enrolled. Effects of R-CHOP on circulatory biomarkers and depressive symptoms were assessed at three-time points [baseline assessment 7 days before the first dose of chemotherapy (TP1), interim assessment after the third cycle of chemotherapy (TP2), and follow-up assessment after the 6th cycle of chemotherapy (TP3)].ResultsSeventy lymphoma patients, with a mean age of 44.17 ± 13.67 years, were enrolled. Patients receiving R-CHOP were found significantly increased neopterin levels between given time points TP1 vs. TP2, TP1 vs. TP3, and TP2 vs. TP3 (p &lt; 0.001). However, IL-4 and BDNF levels significantly decreased with consecutive cycles of chemotherapy (p &lt; 0.001). On Patient Health Questionnaire assessment (PHQ-9), scores of items like loss of interest, feeling depressed, sleep problems, loss of energy, and appetite problems were found significantly affected with consecutive cycles of chemotherapy (p &lt; 0.001). The study found weak negative correlations between IL-4, BDNF, and neopterin levels and changes in PHQ-9 scores at both TP2 and TP3, suggesting a potential inverse relationship between these markers and depression symptoms.ConclusionIn conclusion, the present study suggests a potential link between elevated neopterin levels, decreased IL-4, and BDNF levels, and the presence of depression in lymphoma patients receiving R-CHOP chemotherapy. This study provides valuable insights into understanding the emotional challenges faced by cancer patients, offering information for more personalized interventions and comprehensive support approaches within the oncology setting.
A tree-based approach to identify indispensable foods in minimum-cost food baskets
Authors: Koenen Melissa F. , Geelen Romée , Balvert Marleen , Fleuren Hein 
Published: September 2024

IntroductionOptimization techniques, such as linear programming, can be used to estimate the minimum cost of a nutrient-adequate food basket, to determine if individuals or households can afford nutritious diets. These cost estimates typically account for seasonal fluctuations but often overlook significant disruptions in the availability of affordable nutritious food that can severely impact food and nutrition security.MethodsThis paper proposes a tree-based method, the binary search tree, to assess the resilience of the cost estimate of the minimum-cost food basket. In particular, this method aims to identify indispensable foods in these baskets — those whose unavailability would lead to a substantial cost increase. The binary search tree operates by iteratively excluding essential food items while ensuring the construction of minimum-cost nutritious baskets. It considers all relevant combinations of foods up to a specified size and avoids unnecessary optimizations, thereby saving computation time. We describe how the resulting tree can be evaluated and condensed to capture only the necessary information for decision makers. The construction and evaluation of the binary search tree are independent of the (dietary) restrictions or type of optimization model (i.e., linear, non-linear or integer) included.ResultsIn general, the binary search tree can identify all (combinations of) foods whose exclusion leads to a significant cost increase of a nutritious food basket. Furthermore, it can detect possible substitute effects between foods and identify key limiting nutrients. A case study is presented in which the binary search tree is applied to data from Ebonyi, Nigeria, modeled using linear programming. We report all combinations of up to five foods that, when unavailable, can impact food and nutrition security in Ebonyi.ConclusionThe BST can provide insights into local food and nutrition security when facing drastic disruptions in access to nutritious foods by identifying indispensable foods. Its results can be used to inform and design interventions in the context of humanitarian operations.
Effects of exercise with or without β-hydroxy-β-methylbutyrate supplementation on muscle mass, muscle strength, and physical performance in patients with sarcopenia: a systematic review and meta-analysis
Authors: Feng Yiwei , Chen Peng , Li Tao , Wan Ping , Shi Rengfei 
Published: September 2024

ObjectivesThis systematic review and meta-analysis aimed to assess the effects of exercise with/without β-hydroxy-β-methylbutyrate (HMB) supplementation on muscle mass, muscle strength, physical performance, and body composition in patients with sarcopenia.MethodsA literature search for randomized controlled trials (RCTs) on the effects of exercise with or without HMB supplementation on muscle mass, muscle strength, physical performance, and body composition in patients with sarcopenia was conducted using PubMed, Web of Science, EBSCO, The Cochrane Library, EMBASE, Scopus, Science Direct, China Knowledge Resource Integrated Database (CNKI), and Wan Fang database. The search was limited to studies published up to April 2024 for each database. The outcome measures included muscle mass, muscle strength, physical performance, and body composition. The Cochrane Risk of Bias Assessment Tool was used to evaluate the quality of the included literature, and RevMan 5.4 software was employed to perform a meta-analysis of the outcome indicators.ResultsFive RCTs involving 257 elderly patients with sarcopenia were included in this study. Meta-analysis showed that in terms of physical performance, exercise with HMB supplementation significantly increased gait speed in sarcopenic patients compared to the exercise combined with the placebo group (SMD = 0.48, 95% CI: 0.15 to 0.82, p = 0.005), but exercise combined with HMB supplementation did not have significant effects on SMI (SMD = 0.06, 95% CI: −0.20 to 0.32, p = 0.66), grip strength (SMD = 0.23, 95% CI: −0.05 to 0.52, p = 0.11), five-time chair stand test (SMD = –0.83, 95% CI: −1.88 to 0.21, p = 0.12), fat-free mass (SMD = 0.04, 95% CI: –0.26 to 0.35, p = 0.78), BMI (SMD = –0.09, 95% CI: –0.43 to 0.25, p = 0.60), and fat mass (SMD = 0.01, 95% CI: –0.25 to 0.27, p = 0.94).ConclusionThe current evidence indicates that exercise with HMB supplementation may enhance physical performance in patients with sarcopenia compared to exercise with the placebo group. However, the effects on muscle mass, muscle strength, and body composition are likely minimal. The above findings are limited by the number of included studies and require further validation through high-quality studies.Systematic Review RegistrationProspero (CRD42024500135).
Radiomics-based machine learning models for differentiating pathological subtypes in cervical cancer: a multicenter study
Authors: Liu Huiling , Lao Mi , Zhang Yalin , Chang Cheng , Yin Yong , Wang Ruozheng 
Published: September 2024

PurposeThis study was designed to determine the diagnostic performance of fluorine-18-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT) radiomics-based machine learning (ML) in the classification of cervical adenocarcinoma (AC) and squamous cell carcinoma (SCC).MethodsPretreatment 18F-FDG PET/CT data were retrospectively collected from patients who were diagnosed with locally advanced cervical cancer at two centers. Radiomics features were extracted and selected by the Pearson correlation coefficient and least absolute shrinkage and selection operator regression analysis. Six ML algorithms were then applied to establish models, and the best-performing classifier was selected based on accuracy, sensitivity, specificity, and area under the curve (AUC). The performance of different model was assessed and compared using the DeLong test.ResultsA total of 227 patients with locally advanced cervical cancer were enrolled in this study (N=136 for the training cohort, N=59 for the internal validation cohort, and N=32 for the external validation cohort). The PET radiomics model constructed based on the lightGBM algorithm had an accuracy of 0.915 and an AUC of 0.851 (95% confidence interval [CI], 0.715-0.986) in the internal validation cohort, which were higher than those of the CT radiomics model (accuracy: 0.661; AUC: 0.513 [95% CI, 0.339-0.688]). The DeLong test revealed no significant difference in AUC between the combined radiomics model and the PET radiomics model in either the training cohort (z=0.940, P=0.347) or the internal validation cohort (z=0.285, P=0.776). In the external validation cohort, the lightGBM-based PET radiomics model achieved good discrimination between SCC and AC (AUC = 0.730).ConclusionsThe lightGBM-based PET radiomics model had great potential to predict the fine histological subtypes of locally advanced cervical cancer and might serve as a promising noninvasive approach for the diagnosis and management of locally advanced cervical cancer.
Elucidating the molecular markers and biological pathways associated with extrahepatic cholangiocarcinoma: a transcriptome sequencing study
Authors: Zhao Bin , Gu Yanmei , Shi Daixiu , Chen Xiaokang , Li Yumin 
Published: September 2024

BackgroundCholangiocarcinoma is a malignancy with high aggressiveness, and extrahepatic cholangiocarcinoma (ECCA) represents the predominant subtype. However, the molecular architecture and underlying pathogenic mechanisms of ECCA remain poorly understood. The objective of this study is to elucidate the molecular markers and biological pathways associated with ECCA.MethodsIn order to identify the factors influencing ECCA, we conducted transcriptome sequencing on a cohort of 8 surgically resected ECCA specimens. To validate our findings, we integrated data from The Cancer Genome Atlas and Gene Expression Omnibus (GEO) databases using batch integration analysis. Finally, we confirmed our results using clinical samples.ResultsThe findings of this study reveal that through the analysis of sequencing data, we have successfully identified the genes that are differentially expressed and have a significant role in the development of ECCA. Utilizing the Weighted Gene Co-expression Network Analysis approach, we have integrated these identified gene modules with the GEO dataset, leading to the identification of four key genes (PTGDS, ITIH2, LSAMP, HBB) that are strongly associated with the progression-free survival of ECCA. We screened a key gene LSAMP from four genes using immunohistochemistry. The gene primarily participate in crucial biological processes such as the ECCA cell cycle and DNA replication. The qRT-PCR reaction and Western Blot conducted on the tissues provided confirmation of the expression levels of the gene, which exhibited consistency with the outcomes of our analysis.ConclusionsOur study has successfully identified potential biomarkers LSAMP for ECCA, which can serve as valuable tools for early detection and targeted therapeutic interventions in clinical settings.
The current state of inflammation-related research in prostate cancer: a bibliometric analysis and systematic review
Authors: Li Weida , Wang Jian 
Published: September 2024

BackgroundProstate cancer (PCa) is the second most prevalent malignancy among men globally. The diagnosis, treatment, and prognosis of prostate cancer frequently fall short of expectations. In recent years, the connection between inflammation and prostate cancer has attracted considerable attention. However, there is a lack of bibliometric studies analyzing the research on inflammation within the domain of prostate cancer.Research methodsWe utilized the Web of Science Core Collection (WOSCC) as our data source to extract articles and reviews related to inflammation in prostate cancer, published up until April 12, 2024. The collected data underwent meticulous manual screening, followed by bibliometric analysis and visualization using the Biblioshiny package in R.ResultsThis study encompasses an analysis of 2,786 papers focusing on inflammation-related research within the realm of prostate cancer. Recent years have seen a significant proliferation of publications in this area, with the United States and China being the foremost contributors. The most prolific author in this domain is Demarzoam, with Johns Hopkins University standing out as the most influential institution. The leading journal in disseminating these studies is PROSTATE. Keyword co-occurrence analysis reveals that ‘inflammation-related biomarkers’, ‘inflammation index’, and ‘tumor immune microenvironment’ represent the current research hotspots and frontiers.ConclusionThe findings of this bibliometric study serve to illuminate the current landscape of inflammation-related research in the field of prostate cancer, while further augmenting the discourse on inflammation-mediated cancer therapeutics. Of particular note is the potential of these discoveries to facilitate a more nuanced understanding among researchers regarding the interplay between inflammation and prostate cancer.
Physical space of thirty pediatric intensive care units in the United States of America: a national survey
Authors: Karam Oliver , Ahmed Aziez , Bizzarro Matthew , Bogue Clifford , Giuliano John S. ,   PICU Space Collaborative
Published: September 2024

IntroductionThe design of Pediatric Intensive Care Unit (PICU) rooms significantly impacts patient care and satisfaction. The aims were first, to describe the current physical space across PICUs in the USA, and second, to identify what proportion of PICUs are compliant with current guidelines.MethodsA descriptive cross-sectional survey was conducted, targeting division chiefs and medical directors of PICUs nationwide. The survey collected data on unit type, construction and renovation dates, room sizes, and available amenities. According to the Guidelines for Design and Construction of Hospitals, PICU rooms are recommended to be single rooms, at least 200 sq ft, have a window and a private bathroom. Data were anonymized and reported as median and interquartile ranges or frequencies and percentages.ResultsThirty units responded. Among the respondents, 26 had general PICUs, 9 had cardiac ICUs, and 3 had intermediate care units, with some units containing multiple types of ICUs. The median annual admissions were 1,125, with a median occupancy rate of 78%. Twenty-three percent of units had at least one double room, and 3% had triple or quadruple rooms. The median room size was 265 sq ft (IQR 230; 304), the smallest room size was 220 sq ft (IQR 179; 275), and the largest single room size was 312 sq ft (IQR 273; 330). Thirty-seven percent of units had bathrooms in every room, while 80% had windows in every room. Additionally, 46% of units had dialysis capabilities in every room, and 7% had negative pressure capabilities in every room. The median building year was 2008 (IQR 2001;2014), with 36% of units having undergone at least one renovation. Larger rooms were associated with more recent build dates (p = 0.01). Only 30% of the PICUs met the guidelines for physical space. These compliant units were built at a median of 4 years ago (IQR 1; 8).ConclusionThis study highlights the variability in PICU room design and amenities across healthcare facilities. Many units still fall short of meeting the guidelines for room size, windows, and private bathrooms. Future research should investigate the relationship between room characteristics and patient outcomes to inform better design practices, with a goal of improving patient experiences and clinical outcomes.
Extrachromosomal circular DNAs in prostate adenocarcinoma: global characterizations and a novel prediction model
Authors: He Qingliu , Su Qingfu , Wei Chengcheng , Zhang Pu , Liu Weihui , Chen Junyi , Su Xiaoping , Zhuang Wei 
Published: September 2024

BackgroundThe role of focal amplifications and extrachromosomal circular DNA (eccDNA) is still uncertain in prostate adenocarcinoma (PRAD). Here, we first mapped the global characterizations of eccDNA and then investigate the characterization of eccDNA-amplified key differentially expressed encoded genes (eKDEGs) in the progression, immune response and immunotherapy of PRAD.MethodsCircular_seq was used in conjunction with the TCGA-PRAD transcriptome dataset to sequence, annotate, and filter for eccDNA-amplified differentially expressed coding genes (eDEGs) in PRAD and para-cancerous normal prostate tissues. Afterwards, risk models were created and eKDEGs linked to the PRAD prognosis were identified using Cox and Lasso regression analysis. The immune microenvironment of the risk model was quantified using a variety of immunological algorithms, which also identified its characteristics with regard to immunotherapy, immune response, and immune infiltration.ResultsIn this research, there was no significant difference in the size, type, and chromosomal distribution of eccDNA in PRAD and para-cancerous normal prostate tissues. However, 4,290 differentially expressed eccDNAs were identified and 1,981 coding genes were amplified. Following that, 499 eDEGs were tested in conjunction with the transcriptome dataset from TCGA-PRAD. By using Cox and Lasso regression techniques, ZNF330 and PITPNM3 were identified as eKDEGs of PRAD, and a new PRAD risk model was conducted based on this. Survival analysis showed that the high-risk group of this model was associated with poor prognosis and validated in external data. Immune infiltration analysis showed that the model risks affected immune cell infiltration in PRAD, not only mediating changes in immune cell function, but also correlating with immunophenotyping. Furthermore, the high-risk group was negatively associated with anti-CTLA-4/anti-PD-1 response and mutational burden. In addition, Tumor Immune Dysfunction and Exclusion analyses showed that high-risk group was more prone to immune escape. Drug sensitivity analyses identified 10 drugs, which were instructive for PRAD treatment.ConclusionZNF330 and PITPNM are the eKDEGs for PRAD, which can be used as potential new prognostic markers. The two-factor combined risk model can effectively assess the survival and prognosis of PRAD patients, but also can predict the different responses of immunotherapy to PRAD patients, which may provide new ideas for PRAD immunotherapy.