bluuebunny/crossref_metadata_2025 huggingface dataset:
Teaching basic computer programming to young adults with intellectual disability
Authors: Stimoli Maria Agatina , Di Blasi Francesco Domenico , Maccarrone Silvestro , Costanzo Angela Antonia , Occhipinti Paola , Buono Serafino
Published: November 2024

Introduction

Teaching computer programming can be challenging, especially for individuals with intellectual disability (ID) who exhibit a wide range of learning abilities and behavioral characteristics. This study aimed to investigate the effectiveness of an intervention designed to teach computer programming skills to individuals with ID.

Method

Four women with ID, aged 27 to 54 years, were selected to participate in the study. Participants were taught computer programming using authoring software to create multimedia educational activities. A discrete trial teaching (DTT) approach was employed to teach specific skills and to gradually fade prompts to promote independent learning. A multiple-probe design across subjects was used to evaluate the effectiveness of the intervention. This design involved a baseline phase, a training phase with a most-to-least prompting procedure, and a 1-month follow-up phase to assess skill maintenance.

Results

The results demonstrated that all participants were able to acquire the necessary programming skills and complete the assigned tasks independently.

Conclusion

Computer programming can provide valuable learning and development opportunities for individuals with ID. However, it is essential to tailor the instruction to individual needs and provide appropriate support.
Exploring the relationship between air pollution, non-alcoholic fatty liver disease, and liver function indicators: a two-sample Mendelian randomization analysis study
Authors: Song Qingliang , Pan Jinyue , Pan Maoxing , Zheng Chuiyang , Fan Wen , Zhen Jianwei , Pi Dajin , Liang Zheng , Shen Haiyan , Li Yuanyou , Yang Qinhe , Zhang Yupei
Published: November 2024

Background and aims

Non-alcoholic fatty liver disease (NAFLD) is a common metabolic disorder worldwide, with an increasing incidence in recent years. While previous studies have suggested an association between the air pollutant PM2.5 and NAFLD, there is still considerable debate regarding the existence of a clear causal relationship between air pollution and NAFLD. This study aims to employ Mendelian randomization methods to evaluate the causal relationship between major air pollutants and NAFLD.

Method

We conducted Mendelian randomization analyses on a large-scale publicly available genome-wide association study (GWAS) dataset of European populations to dissect the association between air pollutants, NAFLD, and liver function indicators. We used five different analysis methods, including Inverse-variance weighted (IVW), Weighted median, MR-Egger, Simple mode, and Weighted mode, to analyze the data. We also tested for pleiotropy, heterogeneity, and sensitivity of the results.

Results

This study utilized four common exposures related to air pollution and four outcomes related to NAFLD. The results regarding the association between air pollutants and NAFLD (PM2.5: P=0.808, 95% CI=0.37-3.56; PM10: P=0.238, 95% CI=0.33-1.31; nitrogen dioxide: P=0.629, 95% CI=0.40-4.61; nitrogen oxides: P=0.123, 95% CI=0.13-1.28) indicated no statistically significant correlation between them. However, notably, there was a causal relationship between PM10 and serum albumin (ALB) levels (P=0.019, 95% CI=1.02-1.27).

Conclusion

This MR study found no evidence of a causal relationship between air pollution and NAFLD in European populations. However, a statistically significant association was observed between PM10 and ALB levels, suggesting that the air pollutant PM10 may impact the liver’s ability to synthesize proteins.
Association between calculated remnant cholesterol levels and incident risks of Alzheimer’s disease among elderly patients with type 2 diabetes: a real-world study
Authors: Jia Huimeng , Zhang Liuyu , Liao Huijuan , Li Yiming , Liu Pan , Shi Qin , Jiang Bo , Zhang Xian , Jiang Yufeng , Nie Zhihong , Jiang Mei
Published: November 2024

Objective

Alzheimer’s disease (AD) is a leading cause of dementia, with a rising global burden. Remnant cholesterol (RC), a component of triglyceride-rich lipoproteins, has been implicated in cardiovascular diseases and metabolic disorders, but its role in AD remains unclear. This study investigated the association between RC levels and the risk of AD among elderly patients with type 2 diabetes (T2D) in a real-world clinical setting.

Methods

We conducted a retrospective cohort study using electronic medical records from Gongli Hospital of Shanghai Pudong New Area, covering the period from 2013 to 2023. The study included 15,364 elderly patients aged 65-80 years with T2D. RC levels were calculated using the equation. The primary outcome was the diagnosis of AD, validated by neurologists using ICD-10-CM code G30. Cox proportional hazards models were employed to estimate hazard ratios (HRs) for AD across quartiles of RC levels, adjusting for potential confounders.

Results

Over a mean follow-up of 3.69 ± 1.33 years, 312 new cases of AD were identified. A U-shaped relationship was observed between RC levels and AD risk, with the lowest risk associated with RC levels between 0.58-0.64 mmol/L. Both lower (<0.52 mmol/L) and higher (≥0.77 mmol/L) RC levels were linked to increased AD risk. Compared to the reference group (Q2: 0.52-0.64 mmol/L), the adjusted HRs (95% CI) for the lowest and highest quartiles were 1.891 (1.368-2.613) and 1.891 (1.363-2.622), respectively. Each 1 mmol/L increase in RC was associated with a 3.47-fold higher risk of AD (HR=4.474, 95% CI 2.330-8.592).

Conclusion

RC levels may serve as a predictive biomarker for AD risk, with both extremes posing a higher risk. Future studies should explore the mechanistic pathways and potential interventions targeting RC to prevent AD in high-risk populations.
Gradient boosting reveals spatially diverse cholesterol gene signatures in colon cancer
Authors: Yang Xiuxiu , Chatterjee Debolina , Couetil Justin L. , Liu Ziyu , Ardon Valerie D. , Chen Chao , Zhang Jie , Huang Kun , Johnson Travis S.
Published: November 2024

Colon cancer (CC) is the second most common cause of cancer deaths and the fourth most prevalent cancer in the United States. Recently cholesterol metabolism has been identified as a potential therapeutic avenue due to its consistent association with tumor treatment effects and overall prognosis. We conducted differential gene analysis and KEGG pathway analysis on paired tumor and adjacent-normal samples from the TCGA Colon Adenocarcinoma project, identifying that bile secretion was the only significantly downregulated pathway. To evaluate the relationship between cholesterol metabolism and CC prognosis, we used the genes from this pathway in several statistical models like Cox proportional Hazard (CPH), Random Forest (RF), Lasso Regression (LR), and the eXtreme Gradient Boosting (XGBoost) to identify the genes which contributed highly to the predictive ability of all models, ADCY5, and SLC2A1. We demonstrate that using cholesterol metabolism genes with XGBoost models improves stratification of CC patients into low and high-risk groups compared with traditional CPH, RF and LR models. Spatial transcriptomics (ST) revealed that SLC2A1 (glucose transporter 1, GLUT1) colocalized with small blood vessels. ADCY5 localized to stromal regions in both the ST and protein immunohistochemistry. Interestingly, both these significant genes are expressed in tissues other than the tumor itself, highlighting the complex interplay between the tumor and microenvironment, and that druggable targets may be found in the ability to modify how “normal” tissue interacts with tumors.
Building a FAIR data ecosystem for incorporating single-cell transcriptomics data into agricultural genome to phenome research
Authors: Kapoor Muskan , Ventura Enrique Sapena , Walsh Amy , Sokolov Alexey , George Nancy , Kumari Sunita , Provart Nicholas J. , Cole Benjamin , Libault Marc , Tickle Timothy , Warren Wesley C. , Koltes James E. , Papatheodorou Irene , Ware Doreen , Harrison Peter W. , Elsik Christine , Yordanova Galabina , Burdett Tony , Tuggle Christopher K.
Published: November 2024

Introduction

The agriculture genomics community has numerous data submission standards available, but the standards for describing and storing single-cell (SC, e.g., scRNA- seq) data are comparatively underdeveloped.

Methods

To bridge this gap, we leveraged recent advancements in human genomics infrastructure, such as the integration of the Human Cell Atlas Data Portal with Terra, a secure, scalable, open-source platform for biomedical researchers to access data, run analysis tools, and collaborate. In parallel, the Single Cell Expression Atlas at EMBL-EBI offers a comprehensive data ingestion portal for high-throughput sequencing datasets, including plants, protists, and animals (including humans). Developing data tools connecting these resources would offer significant advantages to the agricultural genomics community. The FAANG data portal at EMBL-EBI emphasizes delivering rich metadata and highly accurate and reliable annotation of farmed animals but is not computationally linked to either of these resources.

Results

Herein, we describe a pilot-scale project that determines whether the current FAANG metadata standards for livestock can be used to ingest scRNA-seq datasets into Terra in a manner consistent with HCA Data Portal standards. Importantly, rich scRNA-seq metadata can now be brokered through the FAANG data portal using a semi-automated process, thereby avoiding the need for substantial expert curation. We have further extended the functionality of this tool so that validated and ingested SC files within the HCA Data Portal are transferred to Terra for further analysis. In addition, we verified data ingestion into Terra, hosted on Azure, and demonstrated the use of a workflow to analyze the first ingested porcine scRNA-seq dataset. Additionally, we have also developed prototype tools to visualize the output of scRNA-seq analyses on genome browsers to compare gene expression patterns across tissues and cell populations. This JBrowse tool now features distinct tracks, showcasing PBMC scRNA-seq alongside two bulk RNA-seq experiments.

Discussion

We intend to further build upon these existing tools to construct a scientist-friendly data resource and analytical ecosystem based on Findable, Accessible, Interoperable, and Reusable (FAIR) SC principles to facilitate SC-level genomic analysis through data ingestion, storage, retrieval, re-use, visualization, and comparative annotation across agricultural species.
Wound healing: insights into autoimmunity, ageing, and cancer ecosystems through inflammation and IL-6 modulation
Authors: Lacina Lukáš , Kolář Michal , Pfeiferová Lucie , Gál Peter , Smetana Karel
Published: November 2024

Wound healing represents a complex and evolutionarily conserved process across vertebrates, encompassing a series of life-rescuing events. The healing process runs in three main phases: inflammation, proliferation, and maturation/remodelling. While acute inflammation is indispensable for cleansing the wound, removing infection, and eliminating dead tissue characterised by the prevalence of neutrophils, the proliferation phase is characterised by transition into the inflammatory cell profile, shifting towards the prevalence of macrophages. The proliferation phase involves development of granulation tissue, comprising fibroblasts, activated myofibroblasts, and inflammatory and endothelial cells. Communication among these cellular components occurs through intercellular contacts, extracellular matrix secretion, as well as paracrine production of bioactive factors and proteolytic enzymes. The proliferation phase of healing is intricately regulated by inflammation, particularly interleukin-6. Prolonged inflammation results in dysregulations during the granulation tissue formation and may lead to the development of chronic wounds or hypertrophic/keloid scars. Notably, pathological processes such as autoimmune chronic inflammation, organ fibrosis, the tumour microenvironment, and impaired repair following viral infections notably share morphological and functional similarities with granulation tissue. Consequently, wound healing emerges as a prototype for understanding these diverse pathological processes. The prospect of gaining a comprehensive understanding of wound healing holds the potential to furnish fundamental insights into modulation of the intricate dialogue between cancer cells and non-cancer cells within the cancer ecosystem. This knowledge may pave the way for innovative approaches to cancer diagnostics, disease monitoring, and anticancer therapy.
Serum transgelin is a novel prognostic biomarker for COVID-19 patients
Authors: Gao Lei , Liu Ying , He Qi-Yuan , Wang Yu , Jiang Ya-Lin , Yang Jin , Fu Lin , Zhao Hui
Published: November 2024

Background

Transgelin is a central actin-binding protein of the calponin family and involved in the process of multiple pulmonary diseases. Nevertheless, the role of transgelin in Coronavirus disease 2019 (COVID-19) patients is confusing.

Methods

All 317 COVID-19 patients were recruited from two hospital. Peripheral blood was collected from the fasting patients at the onset and convalescent phases. Demographic data and clinical information were obtained. The expression of serum transgelin was estimated using ELISA.

Results

The expression of serum transgelin on admission was gradually elevated in parallel with the increased severity scores of COVID-19. After treatment, serum transgelin expression was reduced during the convalescent phase. Spearman correlative analyses found that serum transgelin expression was closely correlated to lots of clinical parameters. Besides, serum transgelin was positively associated with severity scores. Follow-up research found that serum higher transgelin on admission elevated the risks of mechanical ventilation, vasoactive agent utilization, ICU admission, death, and longer hospital stays during hospitalization through a prospective cohort study. Additionally, there were similarly predictive capacities for critical patients and death between serum transgelin on admission and severity scores among COVID-19 patients.

Conclusions

The expression of serum transgelin is positively with the severity and poorly prognostic outcomes among COVID-19 patients, indicating that transgelin is implicated in the pathological process of COVID-19. Transgelin can assist in the risk stratification and revealing the pathological mechanisms of COVID-19.
Bullous pemphigoid and mucous membrane pemphigoid humoral responses differ in reactivity towards BP180 midportion and BP230
Authors: Mariotti Feliciana , Pira Anna , De Luca Naomi , Giampetruzzi Anna Rita , Russo Filomena , Cerri Amilcare , Gasparini Giulia , Cozzani Emanuele , Marzano Angelo V. , Antiga Emiliano , Caproni Marzia , Quaglino Pietro , Carrozzo Marco , Didona Biagio , Di Zenzo Giovanni
Published: November 2024

Background

Bullous pemphigoid (BP) and mucous membrane pemphigoid (MMP) are rare autoimmune blistering disorders characterized by autoantibodies (autoAbs) targeting dermo-epidermal junction components such as BP180 and BP230. The differential diagnosis, based on both the time of appearance and the extension of cutaneous and/or mucosal lesions, is crucial to distinguish these diseases for improving therapy outcomes and delineating the correct prognosis; however, in some cases, it can be challenging. In addition, negative results obtained by commercially available enzyme-linked immunosorbent assays (ELISAs) with BP and MMP sera, especially from patients with ocular involvement, often delay diagnosis and treatment, leading to a greater risk of poor outcomes.

Objectives

Our aim was to find potentially different reactivity profiles in BP and MMP and improve available approaches for diagnosis with focus on ocular MMP.

Methods

Two cohorts of 90 BP and 90 MMP, recruited from different Italian clinical centers, were characterized also employing a novel ELISA based on the BP180 extracellular domain (ECD-BP180).

Results

Immunoglobulin G (IgG) reactivity to BP180 and BP230 in MMP sera was significantly reduced in comparison with BP, mostly affecting BP230 and E-1080 (53% and 36% in BP vs. 11% and 3% in MMP, respectively, p < 0.0001). The combined sensitivity of BP180-NC16A and ECD-BP180 ELISAs was greater compared to BP180-NC16A and BP230 ELISAs both in BP (97% and 92%, respectively) and in MMP (42% and 31%, respectively). The present study shows that MMP patients with ocular involvement rarely reacted to BP180 by IgG in contrast with patients with oral and/or cutaneous involvement (p = 0.0245 and p = 0.0377, respectively), suggesting that an oral and/or cutaneous MMP positive to BP180 hardly evolves to ocular MMP. Of note, one-third of ocular MMP showed immunoglobulin A (IgA) reactivity to ECD-BP180 by immunoblotting.

Conclusions

The present study provides several hints to perform a correct and timely diagnosis in BP and MMP, which is crucial for improving therapy outcomes and delineating the correct prognosis.
Anti-BCMA and GPRC5D bispecific antibodies in relapsed/refractory primary plasma cell leukemia: a case report
Authors: Bernardi Chiara , Beauverd Yan , Tran Thien An , Maulini Marie , Mappoura Maria , Morin Sarah , Simonetta Federico , Cairoli Anne , Auner Holger W. , Samii Kaveh , Chalandon Yves , de Ramon Ortiz Carmen
Published: November 2024

Plasma cell leukemia (PCL) is an aggressive and high-risk variant of multiple myeloma (MM) with a very poor prognosis. Given its rarity and aggressiveness, there is a lack of clinical trials testing the efficacity of novel therapies in these patients. New immune approaches such as B-cell maturation antigen (BCMA) and G protein-coupled receptor, family C, group 5, member D (GPRC5D) -targeting agents, including chimeric antigen receptor (CAR) T-cells and bispecific antibodies could play a role in PCL treatment. However, PCL patients were excluded from recent pivotal clinical trials testing those agents and only some case reports have been published. We present here the clinical course of a patient with relapsed/refractory (R/R) primary (p) PCL who was treated with anti-BCMA and anti-GPRC5D bispecific antibodies at our center.
Single-cell RNA-seq reveals FGF12 as a prognostic biomarker in low-grade endometrial stromal sarcoma
Authors: Miao Yu , Dong Meng , Zhou Qiyin , Thiel Julia , Li Na , Cai Ying , Yuan Dan , Wang Haitao , Jin Su-Han , Yang Hua , Wang Jinjing , Frey Benjamin , Gaipl Udo S. , Ma Hu , Zhou Jian-Guo
Published: November 2024

Background

Low-grade endometrial stromal sarcoma (LG-ESS) is a rare uterine malignancy characterized by its complex tumor microenvironment (TME) and high recurrence rates, posing challenges to accurate prognosis and effective treatment. Identifying prognostic biomarkers is essential for improving patient stratification and guiding therapeutic strategies.

Methods

Using single-cell transcriptome analysis combined with H&E and multiplex immunofluorescence staining, we identified a subpopulation of tumor cells in LG-ESS and further validated the association of this subpopulation and its characteristic genes with LG-ESS prognosis by molecular characterization and bulk transcriptome data.

Results

Our analysis reveals multiple cellular subpopulations within the tumor tissue, particularly a tumor cell subpopulation among them which is associated with poor prognosis. Originating from normal stromal fibroblasts, this subpopulation appears to play a crucial role in TME remodeling, smooth muscle cell behavior, and potentially in tumorigenesis and metastasis. Of particular interest in this subpopulation is the highly expressed FGF12 gene, which is significantly associated with a shortened survival in ESS, highlighting its potential as a prognostic biomarker.

Conclusion

Our study reveals the complexity of TME within the LG-ESS and highlights the role that tumor cell subpopulations play in disease progression and patient prognosis. The identification of FGF12 as a prognostic biomarker suggests a new approach for the personalized treatment and prognosis monitoring of patients.
Self-reported previous experiences with sharks and stingrays predict behavioral intentions of tolerance: differential effects of wild versus captive marine predators
Authors: Hancock Gabriella M. , Dudley Katie D. , Long Dede , Lowe Christopher G.
Published: November 2024

Previous research has shown that the general population are more likely to learn about certain species groups (such as sharks) from popular media as opposed to their own first-hand experience. Yet, personal encounters with these animals can drastically affect people’s beliefs and behaviors. This study surveyed 380 members of the public to assess their previous experience of encountering sharks and stingrays in the wild as well as at zoos and aquaria, and tested how said experiences influenced their behavioral intentions of tolerance for these particular elasmobranchs. Results indicated that self-reported experience having previously encountered these species groups in the wild was predictive of all assessed behavioral indicators of tolerance for sharks and rays. Self-reported previous encounters with captive animals were predictive of fewer behavioral intentions of tolerance, and only for the tolerance of sharks. Findings reveal the important role that first-hand interaction with these animals plays in humans’ tolerance to coexist and care for these animals and their habitat. Implications for conservation are discussed.
Internal hernia through the mesenteric defect in twin pregnancy: a case report and literature review
Authors: Wang Lan , Zhu Yuchun , Tan Huayun
Published: November 2024

Background

Internal hernias through mesenteric defects are rare, particularly in the context of twin pregnancies, and can lead to severe complications such as bowel obstruction and strangulation. Early diagnosis is critical, yet challenging, due to the overlapping symptoms with other abdominal conditions and the limited use of advanced imaging during pregnancy.

Case description

We present a 33-year-old woman with a twin pregnancy at 33 + 2 weeks of gestation who experienced acute bowel obstruction due to an internal hernia through a congenital mesenteric defect. The patient presented with persistent upper abdominal pain, nausea, and vomiting. Given the advanced stage of pregnancy and the associated risks, a cesarean section was performed, followed by surgical exploration. Approximately one meter of strangulated small intestine was resected, and the mesenteric defect was repaired. Both mother and infants recovered uneventfully.

Conclusion

This case highlights the importance of considering internal hernia in the differential diagnosis of acute abdominal pain during pregnancy. Prompt surgical intervention is crucial to prevent maternal and fetal morbidity.
The smartHEALTH European Digital Innovation Hub experiences and challenges for accelerating the transformation of public and private organizations within the innovation ecosystem
Authors: Katehakis Dimitrios G. , Filippidis Dimitrios , Karamanis Konstantinos , Kouroubali Angelina , Farmaki Anastasia , Natsiavas Pantelis , Krithara Anastasia , Christodoulou Eleni G. , Antonakakis Marios , Plexousakis Dimitris
Published: November 2024

Digital innovation can significantly enhance public health services, environmental sustainability, and social welfare. To this end, the European Digital Innovation Hub (EDIH) initiative was funded by the European Commission and national governments aiming to facilitate the digital transformation on various domains (including health) via the setup of relevant ecosystems consisting of academic institutions, research centres, start-ups, small and medium-sized enterprises, larger companies, public organizations, technology transfer offices, innovation clusters, and financial institutions. The ongoing goal of the EDIHs initiative is to bridge the gap between high-tech research taking place in universities and research centres and its deployment in real-world conditions by fostering innovation ecosystems. In this context, the smartHEALTH EDIH started its operation in Greece in 2023, offering technical consultation services to companies and public sector organizations to accelerate digitalization in precision medicine and innovative e-health services by utilizing key technologies such as artificial intelligence, high-performance computing, cybersecurity, and others. During its first 20 months of operation, over 50 prospective recipients have applied for consulting services, mainly seeking “test-before-invest” services. This paper aims to provide insights regarding the smartHEALTH initiative, preliminary outcomes and lessons learned during this first period of operation. To this end, this paper outlines smartHEALTH’s approach to attracting recipients and providing expert guidance on utilizing state-of-the-art technologies for innovative services, product development, and process creation to accelerate digital transformation.
Gut microbiota and Parkinson’s disease: potential links and the role of fecal microbiota transplantation
Authors: Feng Maosen , Zou Zhiyan , Shou Pingping , Peng Wei , Liu Mingxue , Li Xiaoan
Published: November 2024

Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide and seriously affects the quality of life of elderly patients. PD is characterized by the loss of dopaminergic neurons in the substantia nigra as well as abnormal accumulation of α-synuclein in neurons. Recent research has deepened our understanding of the gut microbiota, revealing that it participates in the pathological process of PD through the gut-brain axis, suggesting that the gut may be the source of PD. Therefore, studying the relationship between gut microbiota and PD is crucial for improving our understanding of the disease’s prevention, diagnosis, and treatment. In this review, we first describe the bidirectional regulation of the gut-brain axis by the gut microbiota and the mechanisms underlying the involvement of gut microbiota and their metabolites in PD. We then summarize the different species of gut microbiota found in patients with PD and their correlations with clinical symptoms. Finally, we review the most comprehensive animal and human studies on treating PD through fecal microbiota transplantation (FMT), discussing the challenges and considerations associated with this treatment approach.
Advanced AI techniques for classifying Alzheimer’s disease and mild cognitive impairment
Authors: Tascedda Sophie , Sarti Pierfrancesco , Rivi Veronica , Guerrera Claudia Savia , Platania Giuseppe Alessio , Santagati Mario , Caraci Filippo , Blom Johanna M. C.
Published: November 2024

Background

Alzheimer’s disease and mild cognitive impairment are often difficult to differentiate due to their progressive nature and overlapping symptoms. The lack of reliable biomarkers further complicates early diagnosis. As the global population ages, the incidence of cognitive disorders increases, making the need for accurate diagnosis critical. Timely and precise diagnosis is essential for the effective treatment and intervention of these conditions. However, existing diagnostic methods frequently lead to a significant rate of misdiagnosis. This issue underscores the necessity for improved diagnostic techniques to better identify cognitive disorders in the aging population.

Methods

We used Graph Neural Networks, Multi-Layer Perceptrons, and Graph Attention Networks. GNNs map patient data into a graph structure, with nodes representing patients and edges shared clinical features, capturing key relationships. MLPs and GATs are used to analyse discrete data points for tasks such as classification and regression. Each model was evaluated on accuracy, precision, and recall.

Results

The AI models provide an objective basis for comparing patient data with reference populations. This approach enhances the ability to accurately distinguish between AD and MCI, offering more precise risk stratification and aiding in the development of personalized treatment strategies.

Conclusion

The incorporation of AI methodologies such as GNNs and MLPs into clinical settings holds promise for enhancing the diagnosis and management of Alzheimer’s disease and mild cognitive impairment. By deploying these advanced computational techniques, clinicians could see a reduction in diagnostic errors, facilitating earlier, more precise interventions, and likely to lead to significantly improved outcomes for patients.
Methylphenidate can help reduce weight, appetite, and food intake—a narrative review of adults’ anthropometric changes and feeding behaviors
Authors: Vedrenne-Gutiérrez Fernand , Yu Sion , Olivé-Madrigal Anna , Fuchs-Tarlovsky Vanessa
Published: November 2024

Introduction

Obesity constitutes a complex global health that carries several comorbidities that include cardiovascular disease, diabetes, and cancer. Current treatments, such as lifestyle modifications and bariatric surgery, are often difficult to implement or carry risks, creating a need for alternative approaches. Methylphenidate (MPH), a drug commonly used to treat Attention Deficit and Hyperactivity Disorder (ADHD), has shown potential in regulating dopamine levels to modulate appetite and feeding behaviors.

Methods

This narrative review evaluated the effect of MPH in reducing food intake, body weight, and anthropometric indicators in adults with obesity or overweight. Using the PICO method, 39 studies were selected, including 14 randomized controlled trials and 3 observational studies.

Results

MPH canblead to modest weight loss of 1–2% and significant appetite suppression, with stronger effects observed in women, who reported greater reductions in appetite and food cravings. Studies could remain underpowered to detect consistent effects in men.

Discussion

Even if these results suggest MPH could be an option for treating obesity, concerns regarding its safety profile and long-term efficacy persist. This review underscores the need for further investigation to confirm MPH’s therapeutic potential, particularly through studies that address gender-specific responses and evaluate its sustainability as a weight management tool.
Causal association of peripheral immune cell counts with risk of prostate cancer: insights from bidirectional Mendelian randomization
Authors: Ren Xiaolu , Zhang Li , Wang Kehua , Li Fang
Published: November 2024

Objectives

This study aimed to examine the causal relationships between peripheral immune cell counts and prostate cancer, adhering to Mendelian Randomization reporting guidelines for transparency and reproducibility.

Methods

In this study, bidirectional Mendelian randomization (MR) analysis, which includes MR-Egger, weighted median, weighted mode, and inverse variance weighted (IVW) approaches, was utilized to evaluate the bidirectional causal relationship between peripheral immune cell counts and the risk of PCa.

Results

The primary analysis using the IVW method suggests a potential causal association between basophil counts and the risk of prostate cancer (PCa), with an odds ratio (OR) of 1.111 and a 95% confidence interval (CI) of 1.011-1.222 (P = 0.028). Conversely, non-causal associations have been observed between other peripheral immune cell types, such as white blood cells, neutrophils, lymphocytes, eosinophils, or monocytes, and the incidence of PCa (P values > 0.05). Furthermore, although reverse analysis indicated a causal link between PCa and the counts of leukocytes and neutrophils (OR = 1.013; 95% CI = 1.002–1.225; P = 0.018 and OR = 1.013; 95% CI = 1.002–1.025; P = 0.019), no causal association was detected between PCa and basophil count (P value > 0.050).

Conclusion

This study suggests a potential bidirectional link between peripheral immune cells and prostate cancer, but inconsistencies in Mendelian Randomization methods mean these findings are preliminary and require further investigation.
Initial experience in implementing quantitative DCE-MRI to predict breast cancer therapy response in a multi-center and multi-vendor platform setting
Authors: Moloney Brendan , Li Xin , Hirano Michael , Saad Eddin Assim , Lim Jeong Youn , Biswas Debosmita , Kazerouni Anum S. , Tudorica Alina , Li Isabella , Bryant Mary Lynn , Wille Courtney , Pyle Chelsea , Rahbar Habib , Hsieh Su Kim , Rice-Stitt Travis L. , Dintzis Suzanne M. , Bashir Amani , Hobbs Evthokia , Zimmer Alexandra , Specht Jennifer M. , Phadke Sneha , Fleege Nicole , Holmes James H. , Partridge Savannah C. , Huang Wei
Published: November 2024

Quantitative dynamic contrast-enhanced (DCE) MRI as a promising method for the prediction of breast cancer response to neoadjuvant chemotherapy (NAC) has been demonstrated mostly in single-center and single-vendor platform studies. This preliminary study reports the initial experience in implementing quantitative breast DCE-MRI in multi-center (MC) and multi-vendor platform (MP) settings to predict NAC response. MRI data, including B1 mapping, variable flip angle (VFA) measurements of native tissue R1 (R1,0), and DCE-MRI, were acquired during NAC at three sites using 3T systems with Siemens, Philips, and GE platforms, respectively. High spatiotemporal resolution DCE-MRI was performed using similar vendor product sequences with k-space undersampling during acquisition and view sharing during reconstruction. A breast phantom was used for quality assurance/quality control (QA/QC) across sites. The Tofts model (TM) and shutter-speed model (SSM) were used for pharmacokinetic (PK) analysis of the DCE data. Additionally, tumor region of interest (ROI)- vs. voxel-based analyses in combination with the use of VFA-measured R1,0vs. fixed, literature-reported R1,0 were investigated to determine the optimal analysis approach. Results from 15 patients who completed the study are reported. Voxel-based PK analysis using fixed R1,0 was deemed the optimal approach, which allowed the inclusion of data from one vendor platform where VFA measurements produced ≥100% overestimation of R1,0. The semi-quantitative signal enhancement ratio (SER) and quantitative PK parameters outperformed the tumor longest diameter (LD) in the prediction of pathologic complete response (pCR) vs. non-pCR after the first NAC cycle, whereas Ktrans consistently provided more accurate predictions than both SER and LD after the first NAC cycle and at the NAC midpoint. Both TM and SSM Ktrans and kep were excellent predictors of response at the NAC midpoint with ROC AUC >0.90, while the SSM parameters (AUC ≥0.80) performed better than their TM counterparts (AUC <0.80) after the first NAC cycle. The initial experience of this ongoing study indicates the importance of QA/QC using a phantom and suggests that deploying voxel-based PK analysis using a fixed R1,0 may mitigate random errors from R1,0 measurements across platforms and potentially eliminate the need for B1 and VFA acquisitions in MC and MP trials.
Case report: Two cases of leptomeningeal metastases in patients with metastatic urothelial carcinoma treated with enfortumab vedotin
Authors: Fishbein Francine , Nappi Lucia , Mortazavi Behnoush , Eigl Bernhard
Published: November 2024

Background

Leptomeningeal carcinomatosis is an exceptionally rare pattern of metastases in genitourinary cancer, described in less than 0.1% of cases. We report two cases of patients with metastatic urothelial cancer who initially responded to enfortumab vedotin (EV) before developing leptomeningeal metastases.

Case presentation

Case 1: A 55 year-old man was diagnosed with metastatic urothelial carcinoma. He was initially treated with cisplatin/gemcitabine chemotherapy, followed by second-line pembrolizumab, with progression on both of these regimens. He was started on EV therapy and had a sustained partial response. After 12 cycles of treatment, he developed neurologic symptoms with imaging showing extensive leptomeningeal metastases. A lumbar puncture was performed with cytology positive for metastatic carcinoma. Case 2: A 63 year-old man was diagnosed with metastatic urothelial carcinoma. He received 6 cycles of platinum/gemcitabine chemotherapy followed by avelumab maintenance, after which he developed radiographic progression. He was started on EV therapy and developed a complete radiographic response. After 13 cycles of treatment, he developed neurologic symptoms and imaging revealed extensive leptomeningeal disease. Cytology confirmed metastatic urothelial carcinoma.

Conclusion

This uncommon pattern of spread observed in two patients treated with EV in short succession represents a potentially significant and novel pattern of progression within this population.
Case report: A case of giant malignant solitary fibrous tumor of the pleura with Doege-Potter’s syndrome and review of the literature
Authors: Li Jie , Tang Hong-Tao , Liu Qing , Li Cai-Han , Chen Wei-Yang , Yu Zeng-Wei , Wang Lei , Lin Lin , Zhao Jin-Lan , Zhao Chun-Yan , Chen Long-Qi , Tian Dong
Published: November 2024

The solitary fibrous tumor of the pleura (SFTP) is a rare intrathoracic neoplasm that commonly originates from the subpleural mesenchymal cells of the visceral pleura and accounts for less than 5% of all pleural tumors. We reported a case of a 54-year-old man with a two-week history of hypoglycemia, a six-month history of productive cough and fatigue, and chronic right chest pain. Radiological techniques revealed a giant intra-thoracic mass with hypervascularization, and pathological staining was carried out to make a definitive diagnosis of SFTP. Interventional embolization was conducted to block the main feeding vessels before the surgery, and an anterolateral thoracotomy combined with a transverse sternotomy was performed to achieve a complete resection, which demonstrates significant potential for further application in patients with unilateral giant SFTP. The postoperative course was uneventful, with no signs of hypoglycemia observed during the follow-up. Additionally, we reviewed and prospected the research progress on SFTP. The aim of this study is to enhance clinicians’ understanding of SFTP through our case and to provide a detailed review of the current research.
Regulation of ovarian cancer by protein post-translational modifications
Authors: Zhu Qiugang , Zhou Huimin , Xie Feiting
Published: November 2024

Ovarian cancer is one of the predominant gynecologic malignancies worldwide, ranking as the fifth leading cause of cancer-induced mortality among women globally. Post-translational modifications (PTMs) refer to the enzyme-catalyzed attachment of functional groups to proteins, thereby inducing structural and functional alterations. Recent evidence suggests that PTMs play multifaceted roles in the pathogenesis of ovarian cancer, influencing processes such as cell cycle, metabolism reprogramming, chemoresistance, and immune responses against cancer. Accordingly, a comprehensive understanding of the diverse PTMs in ovarian cancer is imperative for decoding the complex molecular mechanisms that drive cancer progression. This review discusses the latest developments in the study of protein PTMs in ovarian cancer and introduces pharmacological approaches that target these modifications as therapeutic strategies.
Bladder cancer biomarkers: current approaches and future directions
Authors: Ahangar Melika , Mahjoubi Frouzandeh , Mowla Seyed Javad
Published: November 2024

Bladder cancer is a significant health concern worldwide, necessitating effective diagnostic and monitoring strategies. Biomarkers play a crucial role in the early detection, prognosis, and treatment of this disease. This review explores the current landscape of bladder cancer biomarkers, including FDA-approved molecular biomarkers and emerging ones. FDA-approved molecular biomarkers, such as BTA stat, BTA TRAK, and NMP22, have been instrumental in diagnosing and monitoring bladder cancer. These biomarkers are derived from urinary samples and are particularly useful due to their sensitivity and specificity. As we move forward, we should continue to seek ways to optimize our processes and outcomes, these markers remain seriously challenged in the detection of early bladder cancer due to their limited sensitivity and specificity. For instance, sensitivities of BTA stat in bladder tumor detection have varied between 40-72%, while its specificities vary from 29-96%. In the same way, 70% sensitivity and 80% specificity have been recorded for BTA TRAK, while 11-85.7% sensitivity and 77-100% specificity have been documented for NMP22 BladderChek. The given variations, especially the low sensitivity in the diagnosis of bladder cancer at an early stage call for the invention of better diagnostic systems. Moreover, different sample collection and handling procedures applied in different laboratories further contribute to inconsistent results obtained. Extracellular vesicles (EVs) and exosomes, which carry a vast number of proteins, are being considered as potential biomarkers. Although these markers show promise, challenges remain due to non-standardized isolation techniques and lack of reproducibility across studies. Moreover, the discovery of new potential biomarkers is ongoing. For instance, the UBC® Rapid test and UBC ELISA kit, the XPERT BC Monitor, BC UroMark, TaqMan® Arrays, Soluble FAS (sFAS), Bladder tumor fibronectin (BTF), and IGF2 and MAGE-A3 are among the newest biomarkers under investigation. In conclusion, while bladder cancer biomarkers have shown great promise, more research is needed to standardize the testing procedures and validate these biomarkers in a clinical setting. This will pave the way for more accurate and efficient diagnosis and monitoring of bladder cancer, ultimately improving patient outcomes.
Case report: A rare case of malignant solitary fibrous tumor within the joint cavity with review of the literature
Authors: Wang Xiao-Jie , Zhou Jia-Ping , Pan Yao , Yu Ri-Sheng
Published: November 2024

Solitary fibrous tumors (SFTs) are classified as fibroblastic/myofibroblastic tumors that originate from CD34-positive dendritic cells and usually occur in the pleura. In this paper, we describe a case of SFT within the joint cavity of the left knee. A 60-year-old man was admitted to hospital due to swelling in the left knee for the past 8 months without relevant trauma history. X-ray, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography–computed tomography (PET-CT) presented a large, ill-circumscribed, hypervascular, and highly enhanced mass with eccentric calcification and peripheral, intra-lesional vessels. Subsequently, the patient underwent surgical resection. Postoperative pathology confirmed the neoplastic cells to be positive for CD34, Bcl-2, and SATA6, therefore was finally diagnosed as malignant SFT. The patient developed bone metastases within 1 year after surgery. SFT in the joint cavity is rare, and it is difficult to make a preoperative diagnosis.
Anesthetic management of acute right heart failure in patients with pulmonary embolism undergoing AngioJet pulmonary embolectomy: a case report
Authors: Zhang Shasha , Meng Fangeng , Zhou Chao , Zhang Yiwen , Liu Huaqin , Rong Yuanyuan
Published: November 2024

Background

Early mortality rate in patients with high-risk pulmonary embolism(PE) is extremely high. Prompt and effective reduction of the thrombus load, and restoration of pulmonary circulation may successfully treat such patients. For patients with hemodynamic instability and high-risk acute PE, the guidelines recommend catheter directed therapy (CDT). Such patients are at increased risk during perioperative period and need considerable attention from anesthesiologists. Herein, we describe a case of acute right heart failure in a patient undergoing AngioJet PE.

Case summary

A 59-year-old woman with lung cancer had been prescribed anticoagulant therapy for PE six months ago. She discontinued using the drugs on her own two months ago. One week ago, she developed chest tightness and shortness of breath, leading to the diagnosis of another PE episode. An AngioJet pulmonary embolectomy and inferior vena cava filter implantation were urgently needed under general anesthesia. During surgery, after inserting the AngioJet Solent catheter into the right lower lobe artery, she developed severe hypotension 5 s after thrombolysis with urokinase, with no obvious improvement after administration of pressor drugs; hence, pulmonary vasospasm was considered. The anesthesiologist implemented a series of resuscitation measures such as discontinuing the surgical stimulation; chest compressions; and administering pure oxygen, vasoactive drugs, and adequate anticoagulation to ensure patient safety during the perioperative period and a smooth operation.

Conclusion

Pulmonary artery spasm caused by AngioJet pulmonary artery embolization is a rare complication and may be life-threatening. Low left ventricular output and acute right heart failure may occur due to pulmonary spasm, which requires early identification, inhalation of pure oxygen, circulatory support, anticoagulation, and thrombolysis.
METTL3 as a potential therapeutic target in gastric cancer
Authors: Yu Zhefei , Yang Yang
Published: November 2024

Gastric cancer (GC) is one of the leading causes of cancer-related death worldwide. N6-methyladenosine (m6A) modification is the most prominent epigenetic modification of eukaryotic mRNAs, and methyltransferase-like 3 (METTL3), a core component of the methyltransferase complex, catalyzes m6A modification. The results of previous studies indicate that the expression level of METTL3 is significantly elevated in gastric cancer tissues and cells. In addition, fluctuations in m6A levels induced by METTL3 are closely associated with the malignant progression of tumors as well as the poor prognosis of patients with gastric cancer. In this review, we focus on the potential mechanism of METTL3 in gastric cancer, and through our analysis, we suggest that targeting METTL3 could be a new therapeutic tool for treating GC.
Case report: Pediatric intraventricular Rosai-Dorfman disease: clinical insights and surgical strategies in a decade-long observational study and literature review
Authors: Liu Dayuan , Li Ning , Zhu Yubo , Zhong Yunxiang , Deng Guolong , Wang Mingfa , Zhang Caicai , Feng Jigao
Published: November 2024

Background

Rosai-Dorfman disease (RDD), or sinus histiocytosis with massive lymphadenopathy (SHML), is a rare benign disorder characterized by the proliferation of histiocytes of uncertain origin. Central nervous system (CNS) involvement, particularly intraventricular, is exceptionally rare and poses significant diagnostic challenges due to its non-specific clinical and radiographic presentation. This study aims to present a case of intraventricular RDD and review existing literature on its clinical features, treatment strategies, and prognosis.

Methods

We report the case of a five-year-old male with recurrent headaches and epilepsy caused by an intraventricular mass. The mass was surgically resected and histopathological examination was performed to confirm the diagnosis. A comprehensive literature review was conducted to identify similar cases of intraventricular RDD, focusing on clinical features, diagnostic methods, treatment strategies, and outcomes.

Results

Histopathological examination of the resected tumor revealed typical features of RDD, including large histiocytes, lymphocyte infiltration, and immunohistochemical positivity for CD68, S-100, and Vimentin. The patient remained asymptomatic ten years post-surgery with no recurrence of epilepsy or tumor. The literature review identified six similar cases, all of which showed favorable outcomes post-surgery, highlighting the self-limiting nature and favorable prognosis of intraventricular RDD following surgical resection.

Conclusion

Intraventricular RDD, though rare, should be considered in the differential diagnosis of intraventricular masses in pediatric patients. Surgical resection remains the primary treatment modality, and histopathological confirmation is essential for accurate diagnosis. The prognosis is generally favorable with appropriate surgical intervention, although recurrence can occur, necessitating long-term follow-up. Further research is required to refine diagnostic criteria and explore adjuvant therapies for improved management of this rare CNS disorder.