bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

ObjectiveAlzheimer’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.MethodsWe 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.ResultsOver 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 (&lt;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).ConclusionRC 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.
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

IntroductionThe 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.MethodsTo 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.ResultsHerein, 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.DiscussionWe 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.
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

BackgroundTransgelin 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.MethodsAll 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.ResultsThe 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.ConclusionsThe 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

BackgroundBullous 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.ObjectivesOur aim was to find potentially different reactivity profiles in BP and MMP and improve available approaches for diagnosis with focus on ocular MMP.MethodsTwo 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).ResultsImmunoglobulin 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 &lt; 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.ConclusionsThe 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.
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

BackgroundLow-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.MethodsUsing single-cell transcriptome analysis combined with H&amp;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.ResultsOur 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.ConclusionOur 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.
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

BackgroundInternal 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 descriptionWe 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.ConclusionThis 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.
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

BackgroundAlzheimer’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.MethodsWe 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.ResultsThe 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.ConclusionThe 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

IntroductionObesity 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.MethodsThis 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.ResultsMPH 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.DiscussionEven 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

ObjectivesThis 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.MethodsIn 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.ResultsThe 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 &gt; 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 &gt; 0.050).ConclusionThis 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.
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

BackgroundLeptomeningeal 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 presentationCase 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.ConclusionThis 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.
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

BackgroundEarly 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 summaryA 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.ConclusionPulmonary 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.