bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of the covariation between leukotriene B4, prostaglandin E2, and hematologic inflammatory parameters in a canine pentylenetetrazole-induced seizure model
Authors: Koo Yoonhoi , Yun Taesik , Chae Yeon , Lee Dohee , Kim Hakhyun , Yang Mhan-Pyo , Kang Byeong-Teck 
Published: December 2024

BackgroundSeizures can cause as well as result from neuroinflammation. This study was performed to identify the hematologic inflammatory parameters (HIPs) and inflammatory mediators that change after a single seizure in a canine pentylenetetrazole (PTZ)-induced seizure model.MethodsFive healthy Beagle dogs were used in this study. A 3% solution of PTZ was infused until the occurrence of generalized convulsion. Two separate experiments were conducted to observe changes in HIPs over short and long time periods. Blood sampling time points were divided into two periods as follows: short period (baseline, 30, 60, 90, and 120 min after seizure induction) and long period (baseline, 2, 6, 12, 24, and 48 h after seizure induction). The HIPs were calculated, and the serum prostaglandin E2 (PGE2) and leukotriene B4 (LTB4) concentrations were estimated using enzyme-linked immunosorbent assay.ResultsSignificant changes (p &lt; 0.05) in various HIPs were observed at different time point as follows: neutrophil × monocyte (90 min), neutrophil-to-lymphocyte ratio (60, 90, and 120 min), lymphocyte to monocyte ratio (60 min, 90 min, 120 min, 2 h, 12 h, and 24 h), platelet-to-albumin ratio (90 min), lymphocyte percentage × serum albumin concentration (LA; 60 min, 90 min, 120 min, 2 h), and neutrophil × platelet (6 h). LTB4 concentrations were significantly increased (p &lt; 0.05) at 60 and 90 min, and 2, 6, and 48 h after seizure induction. PGE2 was significantly increased only 6 h after seizure induction (p &lt; 0.05). LA was one of the HIPs that demonstrated a correlation with LTB4 concentration and showed significant changes that could be observed for a long-period (p &lt; 0.05, r = −0.4194).ConclusionThe LA was the only HIP that reflected seizure-associated neuroinflammation. The 5-lipoxygenase pathway might be related to seizure-associated neuroinflammation.
Analgesic effect of Dahuang Fuzi Decoction in neuropathic pain through inhibiting TNF-α and PI3K-AKT signaling
Authors: Qu Jinglian , Gong Qian , He Siyu , Peng Jiuyan , Chen Lingyan , Wang Long , Chen Peng 
Published: December 2024

BackgroundNeuropathic pain (NeP) presents considerable challenges in terms of effective management and significantly impacts the quality of life for affected patients. The current treatment options for NeP are limited, highlighting the need for alternative therapeutic approaches. Dahuang Fuzi Decoction (DF), a formula from traditional Chinese medicine, has shown potential in relieving pain symptoms associated with various types of NeP. However, the mechanisms through which DF exerts its effects remain largely unknown.MethodsIn this study, we employed ultra-high-performance liquid chromatography coupled with high-resolution mass spectrometry (UHPLC-HRMS) to analyze the chemical composition of DF. A chronic sciatic nerve compression injury (CCI) rat mode was used to assess the analgesic efficacy of DF for NeP. Network pharmacology analysis was performed to identify the potential signaling pathways affected by DF.ResultsDF treatment significantly increased the mechanical withdrawal threshold (MWT) and thermal withdrawal latency (TWL) in CCI rats, indicating its analgesic effect. Network pharmacology analysis suggested that DF potentially modulated TNF-α and PI3K-AKT signaling pathways. Furthermore, DF treatment decreased the levels of pro-inflammatory cytokines (IL-1β, IL-6, and TNF-α) in spinal cord tissues of CCI rats, suggesting an anti-inflammatory effect. Western blot analysis revealed that DF treatment reduced the expression of TNF-α, TNFR1, and phosphorylated forms of PI3K, AKT, IKKα/β, IKBα, and NF-κB in the spinal cord of CCI rats. Immunofluorescence analysis confirmed significant reductions in TNF-α and TNFR1 expression, as well as in AKT and NF-κB phosphorylation within astrocytes following DF administration.ConclusionOur findings characterize the chemical constituents of DF and elucidate its underlying mechanism for relieving NeP. The analgesic effect of DF involves the inhibition of TNF-α and PI3K-AKT signaling pathways, providing a potential therapeutic approach for NeP management.
Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome
Authors: Schottmann Gudrun , Martínez Almudéver Carmen , Knop Julia C. M. , Suk Eun Kyung , Meyer Zianka , Kohlhase Jürgen , Himmelreich Nastassja , Kühnisch Jirko , Ott Claus-Eric , Seifert Wenke 
Published: December 2024

IntroductionCohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B (VPS13B) gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.MethodsThe widespread incorporation of next-generation sequencing approaches in genetic diagnostics increases the number of individuals carrying VPS13B mutant alleles. At the same time, it increases the detection of variants of unknown clinical significance, necessitating further functional pathogenicity validation.ResultsIn this study, we present a family with two CS patients. Within this family, four rare VPS13B variants were detected: c.710G &gt; C, p.Arg237Pro; c.6804delT, p.Phe2268Leufs*24; c.7304C &gt; T, p.Ala2435Val; and c.10302T &gt; A, p.Tyr3434*. These variants challenge the interpretation of their disease-causing role. Specifically, the variants c.6804delT, p.Phe2268Leufs*24 and c.710G &gt; C, p.Arg237Pro were detected in trans configuration and are considered to be causing CS genetically. The functional characterization of the missense variant c.710G &gt; C, p.Arg237Pro shows diminished localization at the Golgi complex, highlighting its clinical relevance and supporting its classification by the American College of Medical Genetics and Genomics (ACMG) as likely pathogenic, class 4.DiscussionOverall, we emphasize the need for combining genetic and functional testing of VPS13B missense variants to ensure accurate molecular diagnosis and personalized medical care for CS patients.
Research hotspots and frontiers of vagus nerve stimulation in stroke: a bibliometric analysis
Authors: Liu Mingyue , Liu Mengya , Zhang Bohan , Fang Mingzhu , Chen Ke , Zhang Yishen , Wang Qian , Tian Chunyan , Wu Liang , Li Zhe 
Published: December 2024

BackgroundVagus nerve stimulation (VNS) has emerged as a promising therapeutic approach for stroke treatment, drawing significant attention due to its potential benefits. However, despite this growing interest, a systematic bibliometric analysis of the research landscape is yet to be conducted.MethodsWe performed a comprehensive search of the Web of Science Core Collection (WoSCC) database for literature published between January 1, 2005, and August 31, 2024. CiteSpace and the Bibliometrix package in R software were used to generate knowledge maps and conduct a bibliometric analysis. This analysis focused on publication output, geographic distribution, institutional involvement, author and co-cited author networks, journal and co-cited journal relationships, co-cited references, and keyword trends.ResultsDuring the study period, 316 publications on VNS in stroke were identified, authored by 1,631 researchers from 1,124 institutions across 172 countries or regions. The number of publications showed steady growth, with the United States of America (USA) leading as the primary contributor. The University of Texas System emerged as the most active research institution. Frontiers in Neuroscience published the highest number of articles, while Stroke had the most citations. Professor Michael P. Kilgard authored the largest number of papers and was also the most frequently cited researcher. The main research trends focus on investigating VNS mechanisms via animal models and exploring its application in improving post-stroke sensorimotor function in the upper limbs. Moreover, VNS is showing promise in enhancing non-motor functions, such as swallowing, speech, and cognition, while addressing complications like post-stroke insomnia, depression, and disruptions in gut microbiota.ConclusionThis bibliometric study offers a comprehensive overview of the research landscape and emerging trends in VNS for stroke rehabilitation, providing a solid foundation and reference point for future research directions in this field.
Primary signet-ring cell carcinoma of the prostate involving the pelvis: a case report
Authors: Luo Shuai , Tian Xiaoxue , Xu Ting , Wang Jinjing 
Published: December 2024

BackgroundSignet-ring cell carcinoma (SRCC) originates from undifferentiated stem cells in the neck of glands within the lamina propria of the mucosa. Primarily affecting the stomach, SRCC can also involve the breast, pancreas, gallbladder, colon, and bladder, although these cases are rare. SRCC of the prostate is extremely rare, and diagnosing it via pelvic puncture is particularly challenging. Prostate SRCC is a distinct type of malignant tumor characterized by unique biological behavior, high malignancy, rapid disease progression, and poor prognosis. Due to its rarity, early diagnosis and treatment are critical. Currently, the diagnosis and treatment of this disease present significant challenges.Case demonstrationA 74-year-old male patient was admitted to our hospital with “left lower abdominal pain, changes in bowel habits, and bloody stools for 2 months.” A contrast-enhanced pelvic CT scan revealed a soft tissue density mass on the left side of the pelvis. Contrast-enhanced Pelvic MRI suggested a tumor with a rich blood supply on the left side of the pelvis, indistinguishable from the left seminal vesicle and prostate gland, indicating the presence of a suspected malignant tumor. Pathologic biopsy of the pelvic mass confirmed the diagnosis of prostate SRCC. The patient subsequently underwent chemoradiotherapy and has been followed up for three months. He is currently in good condition.ConclusionSRCC predominantly occurs in the digestive tract and rarely originates in the prostate. Diagnosing prostate SRCC through abdominal paracentesis is challenging. To the best of our knowledge, this is the first reported case of SRCC of the prostate initially presenting with gastrointestinal symptoms. Additionally, it presents a case of prostate SRCC involving the pelvis, confirmed through pelvic puncture. highlighting its significance for clinical diagnosis.
Unveiling the hidden causal links: skin flora and cutaneous melanoma
Authors: Zhang Zexin , Wu Wenfeng , Lin Jiajia , Li Hongyi 
Published: December 2024

ObjectiveThe presence of skin flora (SF) has been identified as a significant factor in the onset and progression of cutaneous melanoma (CM). However, the vast diversity and abundance of SF present challenges to fully understanding the causal relationship between SF and CM.MethodsA Two Sample Mendelian Randomization (TSMR) analysis was conducted to investigating the causal relationship between SF and CM. The Inverse-Variance Weighted (IVW) method was utilized as the primary approach to assess the causal relationship under investigation. Furthermore, an independent external cohort was employed to validate the initial findings, followed by a meta-analysis of the consolidated results. To address potential confounding factors related to the influence of SF on CM, a Multivariate Mendelian Randomization (MVMR) analysis was also conducted. Finally, a Reverse Mendelian Randomization (RMR) was conducted to further validate the causal association.ResultsTSMR results showed that 9 SF have a causal relationship with CM in the training cohort. Although these 9 SF weren’t confirmed in the testing cohort, 4 SF remained significant in the meta-analysis after integrating results from both cohorts. MVMR analysis indicated that 3 SF were still significantly associated with CM after accounting for the interactions between different SF in the training cohort. No reverse causal relationship was identified in RMR analysis.ConclusionA total of 9 SF were identified as having a potential causal relationship with CM; however, a large randomized controlled trial is needed to verify these results.
Efficacy and safety of first-line immunotherapy-containing regimens compared with chemotherapy for advanced or metastatic urothelial carcinoma: a network meta-analysis of randomized controlled trials
Authors: Liang Weiming , Huang Shibo , Huang Yanping , Huang Miaoyan , Li Chunyan , Liang Yiwen , Pang Li 
Published: December 2024

IntroductionTo assess the efficacy and safety of first-line immunotherapy-containing regimens compared with chemotherapy for advanced or metastatic urothelial carcinoma (UC).MethodA comprehensive search was performed in four databases (Pubmed, Embase, Web of Science, and the Cochrane Library) to identify randomized controlled trials (RCTs) assessing the efficacy of first-line immunotherapy-containing regimens for advanced or metastatic UC. The search encompassed the time span from the inception of the databases to April 23, 2024. A network meta-analysis (NMA) was conducted to assess the rates of progression-free survival (PFS), overall survival (OS), complete response (CR), objective response rate (ORR), and grade ≥ 3 adverse events (AEs).ResultsWe conducted a comprehensive analysis of five randomized controlled trials (RCTs) that included a total of 4749 patients. Nine different treatment regimens included in the study were ranked statistically and intuitively using NMA. The top five effective regimens, ranked by OS, were EV + Pembro (1.000), Nivol + Chemo (0.724), Atezo + Chemo (0.610), Durva + Treme (0.558), and Pembro + Chemo (0.530). The top five effective regimens, ranked by PFS, were EV + Pembro (0.999), Nivol + Chemo (0.640), Pembro + Chemo (0.484), Atezo + Chemo (0.373) and Chemo (0.003). The top five effective regimens, ranked by CR, were EV + Pembro (0.969), Nivol + Chemo (0.803), Atezo + Chemo (0.772), Pembro + Chemo (0.472), Durva + Treme (0.449). The top five effective regimens, ranked by ORR, were EV + Pembro (0.995), Nivol + Chemo (0.852), Pembro + Chemo (0.761), Atezo + Chemo (0.623), and Chemo (0.519).ConclusionOur results indicated that EV + Pembro as first-line therapy resulted in considerably improved efficacy and safety compared to chemotherapy for advanced or metastatic UC. ICI plus chemotherapy as first-line treatment resulted in a longer PFS, a greater ORR, but no longer OS compared to chemotherapy alone, as well as higher toxicity. ICI alone as first-line therapy provided similar OS and lower toxicity compared to chemotherapy, but lower ORR.Systematic review registrationhttps://www.crd.york.ac.uk/prospero, identifier CRD42024538546.
Comprehensive diagnostic and therapeutic approaches to uterine teratoma in postmenopausal women: a case study and review
Authors: Pan Wenwei , Lan Jun , Tang Zihao , Li Taikang , Ma Xinping 
Published: December 2024

Background and objectiveUterine teratomas are extremely rare in postmenopausal women and pose significant challenges in diagnosis and treatment. This study reports a case of a 54-year-old postmenopausal woman diagnosed with a uterine teratoma during a routine gynecological ultrasound. The study aims to explore the diagnosis and treatment of uterine teratomas in postmenopausal women through detailed imaging assessment and hysteroscopy surgery, aiming to enhance the understanding of this rare uterine tumor and improve patient treatment outcomes and quality of life.MethodsThis study utilized hysteroscopic surgery to excise a mass initially suspected to be a uterine fibroid and performed pathological analysis. The analysis revealed the presence of fat and hair, confirming the diagnosis of a mature benign uterine teratoma. Additionally, the study includes a literature review summarizing the clinical characteristics, diagnostic methods, and treatment strategies for uterine teratomas.ResultsHysteroscopic surgery effectively identified and removed the complex uterine teratoma. Pathological analysis confirmed the teratoma contained various mature tissues, including neural tissue, bone, and cartilage. Comparative analysis of imaging features with surgical outcomes helped propose more precise diagnostic criteria and treatment guidelines.ConclusionHysteroscopy surgery plays a crucial role in diagnosing uterine teratomas in postmenopausal women and showcases its advantages of minimal trauma and quick recovery in treatment. In addition, the literature review emphasizes the diagnostic challenges of uterine teratomas in clinical practice, particularly in expanding clinical awareness of the differences between premenopausal and postmenopausal presentations. It also summarizes the diagnostic and treatment strategies for rare uterine masses, contributing to the improved recognition of these rare cases.
Newly emerged ROS1 rearrangement in a patient with lung adenocarcinoma following resistance to immune checkpoint inhibitors: a case report
Authors: Wang Jian , Liu Bingyue , Zheng Qinhong , Xiao Ruoshui , Chen Jianxin 
Published: December 2024

BackgroundROS1, a member of the sevenless subfamily of tyrosine kinase insulin receptors, promotes tumor cell survival, proliferation, and metastasis by activating the JAK/STAT, PI3K/AKT, and MAPK/ERK pathways. It only accounts for about 2% of total NSCLC cases. No cases of acquired ROS-1 rearrangement have been reported worldwide.Case presentationWe reported a case of lung adenocarcinoma without driver alteration that developed resistance to pembrolizumab and newly emerged CD74-ROS1 fusion, and achieved a partial response after entrectinib treatment.ConclusionsWe hypothesize that the newly emerged ROS1 rearrangement occurs as the subset of cells harboring ROS1 gradually becomes the predominant pathological type of adenocarcinoma following pembrolizumab treatment. We propose that new therapeutic targets may emerge for this patient population following long-term immunotherapy. Thus, we advocate for regular monitoring of tumor genetic status, which could yield unexpected benefits.
Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
Authors: Jian Can-hui , Luo Shuai , Wang Jin-jing 
Published: December 2024

BackgroundPrimary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare type of primary salivary gland-type tumor of the lung. HCCC is characterized by unique pathological features, including nests, cords, or trabeculae of clear or eosinophilic tumor cells infiltrating a mucinous or hyalinized stroma. Additional analyses of this carcinoma have revealed positive epithelial markers via immunophenotyping and EWSR1 gene translocation through genetic testing. However, the morphology of HCCC has been found to change during bronchoscopic biopsy, suggesting certain challenges for its clinical diagnosis and treatment.Case presentationA 47-year-old female patient presented with a 2-month history of cough, sputum production, and dyspnea. A chest CT scan found a nodular soft tissue density shadow in the lower segment of the trachea. Subsequently, the patient underwent tumor resection via combined flexible and rigid bronchoscopy. Postoperative pathological examination, including immunohistochemistry and molecular testing, confirmed an EWSR1 gene translocation. The final pathological diagnosis was primary pulmonary HCCC. A follow-up at 6 months post-surgery showed mediastinal lymph node metastasis.ConclusionsPrimary pulmonary HCCC is an extremely rare, low-grade malignant epithelial tumor of the lung, which has a notably difficult clinical diagnosis and treatment due to the absence of a standard treatment protocol. This case report presents a patient with primary pulmonary HCCC confirmed by molecular testing, aiming to raise awareness about this tumor among physicians and provide valuable clinical references.
Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease
Authors: Ma Jingyu , Hu Zhijuan , Liu Qiong , Li Jing , Li Jiejie 
Published: December 2024

BackgroundAutosomal dominant tubulointerstitial kidney disease (ADTKD) caused by REN-causing pathogenic variants (ADTKD-REN) is a rare group of heritable diseases. ADTKD-REN often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-REN remains challenging.Case presentationWe describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G&gt;A;p.Cys362Tyr (not previously reported in the literature) through Sanger sequencing genetic testing. This confirmed a genetic disorder with a probable autosomal dominant inheritance pattern. Notably, despite a family history of autosomal dominant polycystic kidney disease, he was diagnosed with ADTKD.ConclusionThis case identified a new variant in the REN gene, expanding the known spectrum of REN pathogenic variants. In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.
The prevalence of Mycoplasma pneumoniae in children in Shandong, China before, during, and after COVID-19
Authors: Kong Wenna , Wang Qianqian , Zhuo Jinhua , Zhuang Xuewei 
Published: December 2024

BackgroundThe multifaceted non-pharmaceutical interventions after the outbreak of the COVID-19 pandemic not only limited the spread of SARS-CoV2 but also had an impact on the prevalence of other pathogens.MethodsIn this work, we retrospectively analyzed the epidemiological characteristics of Mycoplasma pneumoniae (MP) in children before and after the COVID-19 pandemic in Shandong, China. From 2019–2023, there were 29,558 visits of pediatric patients (1 month to 15 years old) with respiratory tract infection (RTI) symptoms at a tertiary hospital in Shandong Province, 10,039 of which were positive for MP according to a passive agglutination assay of the serum IgM antibodies. Conduct statistical analysis and epidemiological investigation of the test results categorized by years, months, ages, genders and clinical diagnosis. Utilize the χ2 test to analyze the differences in incidence rates.ResultsCompared to 2019, the number of visits and the positive cases both decreased substantially in 2020, but the positivity rate increased. Both 2021 and 2023 were peak years of MP infection. The peak seasons of MP infection were fall and winter, female patients had higher positivity rate than male patients, and school-age children (&gt;6 years) had higher positivity rate than the children in other age groups. In terms of the clinical manifestation of MP infection, compared to 2019, in 2023, the proportion of bronchopneumonia and upper RTI decreased significantly.ConclusionsThe ongoing surveillance of the epidemiology of MP is critical for effective disease management and provides a basis for diagnosis, treatment, and the corresponding prevention and control strategies. This work for the first time characterized the epidemiology of MP in Shandong before and after the COVID-19 pandemic, thus providing valuable information for monitoring and preventing MP infection in the post-epidemic era.