bluuebunny/crossref_metadata_2025_split huggingface dataset:
The crosstalk between metabolic reprogramming and epithelial-mesenchymal transition and their synergistic roles in distant metastasis in breast cancer
Authors: Yu Liyan , Chen Yongni , Chen Yingyu , Luo Kangwei 
Published: June 2024

Background:
Metabolic reprogramming (MR) and epithelial-mesenchymal transition (EMT) are crucial phenomena involved in the distant metastasis of breast cancer (BRCA). This study aims to assess the risk of distant metastasis in BRCA patients based on MR and EMT processes and investigate their underlying mechanisms.

Methods:
Gene sets related to EMT and MR were downloaded. MR-related genes (MRG) and EMT-related genes (ERG) were obtained. Principal Component Analysis method was used to define the EMT Potential Index (EPI) and MR Potential Index (MPI) to quantify the EMT and MR levels in each tumor tissue. A linear scoring model, the Metastasis Score, was derived using the union of MRGs and ERGs to evaluate the risk of distant metastasis/recurrence in BRCA. The Metastasis Score was then validated in multiple datasets. Additionally, our study explored the underlying mechanism of the Metastasis Score and its association with tumor immunity, focusing on HPRT1 gene expression in breast cancer tissues of transfer and untransferred groups using experimental methods.

Results:
A total of 59 MRGs and 30 ERGs were identified in the present study. Stratifying the dataset based on EPI and MPI revealed significantly lower survival rates (P < .05) in the MPI_high and EPI_high groups. Kaplan–Meier analysis indicated the lowest survival rate in the EPI-high + MPI-high group. The Metastasis Score demonstrated its ability to distinguish prognoses in GSE2034, GSE17705, and TCGA-BRCA datasets. Additionally, differences in mutated genes were found between the high- and the low-Metastasis Score groups, displaying significant associations with immune cell infiltration and anti-tumor immune status. Notably, the 13 genes included in the Metastasis Score showed a strong association with prognosis and tumor immunity. Immunohistochemistry and western blot results revealed high expression of the HPRT1 gene in the transfer group.

Conclusion:
This study established the Metastasis Score as a reliable tool for evaluating the risk of distant metastasis/recurrence in BRCA patients. Additionally, we identified key genes involved in MR and EMT crosstalk, offering valuable insights into their roles in tumor immunity and other relevant aspects.
The relationship between periodontal disease and gastric cancer: A bidirectional Mendelian randomization study
Authors: Fan Ji-Chang , Gan Jin-Heng , Lu Hao 
Published: June 2024

Background:
Previous observational studies have suggested a possible association between periodontal disease and gastric cancer (GC); however, a causal relationship has not yet been established. This study aimed to explore the causal relationship between the 2 through a 2-sample bidirectional Mendelian randomization (MR) study.

Methods:
Genome-wide association studies (GWAS) summary statistics were obtained from publicly available GWAS and relevant databases. Two-sample bidirectional MR analysis was conducted to investigate the causal relationship between periodontal disease and GC using the inverse-variance weighted (IVW) method selected as the primary analytical approach. Cochran Q test, MR-PRESSO, MR-pleiotropy, and leave-one-out analyses were performed to assess heterogeneity, pleiotropy, and sensitivity.

Results:
In European ancestry, IVW analysis revealed no causal relationship between periodontal disease and GC (OR = 1.873; 95% CI [4.788e-10, 7.323e + 09]; P = .956), or between loose teeth and GC (OR = 1.064; 95% CI [0.708, 1.598]; P = .765). In East Asian ancestry, there was no causal relationship between periodontitis and GC according to IVW (OR = 0.948; 95% CI [0.886, 1.015]; P = .126). Conversely, according to the results of the IVW analysis, there was no causal relationship between GC and periodontal disease, regardless of European or East Asian ancestry. Furthermore, there was no heterogeneity or pleiotropy in the causal relationships between these variables (all P > .05), suggesting a certain level of reliability in our results.

Conclusion:
Within the limitations of this MR study, we found no mutual causal relationship between periodontal disease and GC. This finding can prevent overtreatment by clinical physicians and alleviate the psychological burden on patients.
Chronic inflammatory demyelinating polyneuropathy with pulmonary nocardiosis: A case report
Authors: Yan Cheng , Liu Ting-Ting , Gao Li-Tao 
Published: June 2024

Rationale:
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated motor sensory peripheral neuropathy that is rare in clinical practice. This treatment method aims to suppress potential immunopathology. Nocardiosis is a rare, destructive, opportunistic disease. We report a case of failed treatment of CIDP combined with pulmonary nocardiosis, and for the first time, we link these 2 diseases together.

Patient concerns:
A 65-year-old man developed symmetrical limb weakness. Four months later, he was diagnosed with CIDP and started receiving glucocorticoid (GC) treatment. The disease progressed slowly and was treated with mycophenolate mofetil (MMF) in combination. He did not follow the doctor requirements for monthly follow-up visits, and the preventive medication for sulfamethoxazole/trimethoprim was not strictly implemented. Two months after the combination therapy, the patient developed fever, coughing and sputum production, as well as fatigue and poor appetite. Based on imaging and etiological results, he was diagnosed with pulmonary nocardiosis.

Diagnoses:
Chronic inflammatory demyelinating polyneuropathy, pulmonary nocardiosis.

Interventions:
After treatment with antibiotics, the patient lung infection temporarily improved. However, the patient CIDP condition progressed, limb weakness worsened, respiratory muscle involvement occurred, and intravenous immunoglobulin (IVIG) was administered. However, there was no significant improvement in the condition, and the patient died.

Outcomes:
In this report, we present a case of a patient with CIDP and pulmonary nocardiosis. It is worth noting that in order to avoid the progression and recurrence of CIDP, we did not stop using related therapeutic drugs during the treatment process, the patient had repeatedly refused to use IVIG. Despite this, the patient condition worsened when lung inflammation improved, leading to persistent respiratory failure and ultimately death. Treatment contradictions, medication issues, and patient compliance issues reflected in this case are worth considering.

Lessons:
For patients with CIDP receiving immunosuppressive therapy, attention should be paid to the occurrence and severity of Nocardia infection. Therefore, early detection and treatment are necessary. We need to pay attention to the compliance of patients with prophylactic use of antibiotics, strengthen the follow-up, and urge them to return to their appointments on time.
Argon gas poisoning leading to persistent memory impairment: A 2-year case report
Authors: Gao Weiwei , She Jingjing , Wang Mingyang , Li Shuixian , Chen Xingyu , Zhu Renjing 
Published: June 2024

Rationale:
Argon gas poisoning is an often overlooked yet critical public health concern with the potential for severe and persistent neurological consequences. Current treatment protocols primarily focus on acute-phase management, but a comprehensive understanding of the long-term neurological effects remains incomplete.

Patient concerns:
A 22-year-old male worker was found unconscious in the furnace room of an argon production facility. After regaining consciousness, he presented with symptoms of dizziness, headache, fatigue, and irritability. Neurological examination revealed impairments in both recent and remote memory, notably pronounced short-term memory deficits and reduced arithmetic skills.

Diagnosis:
Argon gas poisoning, hypoxic encephalopathy, and mild hepatic and renal dysfunction.

Interventions:
Upon admission, symptomatic supportive measures included oxygen therapy via nasal cannula (3 L/min), daily hyperbaric oxygen therapy (1.5 ATA, 60 minutes), oral neurotrophic methylcobalamin (0.5 mg, 3 times daily), and intravenous vitamin C infusion (2 g daily) to scavenge oxygen free radicals.

Outcome:
A 2-year telephone follow-up indicated persistent short-term memory impairment, particularly with memorizing numbers. In a memory test, he achieved a digit span forward of 5 but a digit span backward of 2, indicating impairment. Despite these challenges, his daily life and work performance remained largely unaffected.

Lesson:
This case offers valuable insights into the biological mechanisms underlying prolonged neurological sequelae following asphyxiating gas exposure, specifically the persistent impairment of hippocampal function.
Frontiers and hotspots in hand, foot, and mouth disease research during 2006 to 2023: A bibliometric and visual analysis
Authors: Li Yunzhi , Ruan Ying , Zhai Xiangjie , Ye Junjie , Xiao Yujie , Liang Jiawei , Zhu Ni 
Published: June 2024

Background:
Enteroviruses-infected hand, foot, and mouth disease (HFMD) seriously threatens human health. This study aimed to analyze the research status, hotspots, and frontiers of HFMD.

Methods:
Publications on HFMD between January 1, 2006, and January 31, 2023, were retrieved from the Web of Science Core database. Bibliometric tools, including CiteSpace, VOSviewer, R package “Bibiometrix,” SCImago Graphica, and Charticulator, were utilized to analyze and visualize the data.

Results:
A total of 1860 articles from 424 journals, involving 8815 authors from 64 countries and 1797 institutions were analyzed. The number of studies on HFMD has shown an increasing trend over the past 18 years, with an annual increase observed since 2006, which is particularly prominent after 2010. Research in this field has centered on the Asian region. Notably, the research hotspots were mainly focused on vaccines, epidemiology, and pathogenesis of HFMD. Among the researchers in this field, Zhang Yong emerged as the most prolific author, while Xu Wenbo had the most significant influence. The Chinese Academy of Sciences was the most productive institution, and China was the most productive country for HFMD research.

Conclusion:
By bibliometric analysis, researchers in the HMFD field can efficiently identify and visually represent their research focus and limitations. In the future, it is crucial to maintain ongoing surveillance of HFMD outbreaks and their pathogenic changes. Additionally, future research should extensively explore the molecular mechanisms underlying Enteroviruses-induced HFMD with a focus on developing vaccines and therapies.
CDCA gene family promotes progression and prognosis in lung adenocarcinoma
Authors: Liu XiangSen , Zhu Xudong , Zhao Yi , Shan Yuchen , Gao ZhaoJia , Yuan Kai 
Published: June 2024

Background:
The cell division cycle-associated (CDCA) family participates in the cell cycle, and the dysregulation of its expression is associated with the development of several types of cancers. However, the roles of CDCAs in lung adenocarcinomas (LUAD) have not been investigated in systematic research.

Methods:
Using data retrieved from The Cancer Genome Atlas (TCGA), the expression of CDCAs in LUAD and normal tissues was compared, and survival analysis was performed using the data. Also, the correlation between clinical characteristics and the expression of CDCAs was assessed. Using data from cBioPortal, we investigated genetic alterations in CDCAs and their prognostic implications. Immunohistochemical analyses were performed to validate our findings from TCGA data. Following this, we created a risk score model to develop a nomogram. We also performed gene set enrichment analyses (GSEA), gene ontology, and KEGG pathway analysis. We used Timer to analyze the correlation between immune cell infiltration, tumor purity, and expression data.

Results:
Our results indicated that all CDCAs were expressed at high levels in LUAD; this could be associated with poor overall survival, as indicated in TCGA data. Univariate and multivariate Cox analyses revealed that CDCA4/5 could serve as independent risk factors. The results of immunohistochemical analyses confirmed our results. Based on the estimation of expression levels, clinical characteristics, alterations, and immune infiltration, the low-risk group of CDCA4/5 had a better prognosis than the high-risk group. Immune therapy is also a potential treatment option.

Conclusion:
In conclusion, our findings indicate that CDCAs play important roles in LUAD, and CDCA4/5 can serve as diagnostic and prognostic biomarkers and therapeutic targets in LUAD.
A rare case of infected urachal cyst leading to intestinal obstruction in a 3-month-old boy with febrile urinary tract infection: Case report
Authors: Song Ji Yeon , Kim Soo-Hong 
Published: June 2024

Rationale:
Urachal anomalies are rare and can present with various clinical manifestations. Urachal remnants, in particular, can be difficult to diagnose because of atypical symptoms at presentation. This study reports a case of intestinal obstruction in an infant secondary to an infected urachal cyst.

Patients concerns:
A 3-month-old boy with a known febrile urinary tract infection developed acute abdominal distension

Diagnoses:
Abdominal ultrasound (US) and computed tomography (CT) revealed a nonspecific, ill-defined soft tissue density at the mid-abdomen, associated with intestinal obstruction.

Interventions:
Emergency exploratory laparotomy was performed. The site of the obstruction was found to be at the mid-small bowel; the proximal small bowel was markedly distended, and the small bowel and sigmoid colon were adherent to urachal remnant. The urachal remnant was excised, and the peritoneal adhesions were lysed.

Outcomes:
The day after surgery, the patient was discharged without any complications.

Lessons:
Intestinal obstruction is an exceedingly rare presentation of urachal remnants. This case highlights that urachal anomalies should be considered in the differential diagnosis in patients with intestinal obstruction and a concurrent febrile urinary tract infection.
Analysis of risk factors for fatty liver disease in children with Wilson’s disease
Authors: Jia Shu-Pei , Wang Mei-Xia , Tao Zhuang , Gao Yan-Nan , Yu Gu-Ran , Yang Wen-Ming 
Published: June 2024

Background and aims
Many children with Wilson’s disease are complicated with dyslipidemia. The aim of this study was to investigate the risk factors for the development of fatty liver disease (FLD) in children with Wilson’s disease.

Methods
We evaluated sex, age, weight, the disease course, treatment course, clinical classification, alanine transaminase (ALT), aspartate transaminase, γ-glutamyl transpeptidase, total biliary acid, triglyceride, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, homocysteine, uric acid, fibrinogen (FBG), creatinine, procollagen III N-terminal propeptide, laminin, hyaluronic acid, type IV collagen, and performed receiver operating characteristic curve analysis to investigate the forecast value of individual biochemical predictors and combined predictive indicators to evaluate FLD in Wilson’s disease.

Results
The multivariate logistic regression analysis revealed that ALT [odds ratio (OR), 1.011; 95% confidence interval (CI), 1.004–1.02; P = 0.006], uric acid (OR, 1.01; 95% CI, 1.002–1.018; P = 0.017), FBG (OR, 3.668; 95% CI, 1.145–13.71; P = 0.037), creatinine (OR, 0.872; 95% CI, 0.81–0.925; P < 0.001), and laminin (OR, 1.01; 95% CI, 1.002–1.018; P = 0.017) acted as independent risk factors in Wilson’s disease complicated with FLD. The receiver operating characteristic curves for combined predictive indicators demonstrated an area under the curve values of 0.872, which was found to be a significant predictors for FLD in Wilson’s disease.

Conclusions
We screened out the most important risk factors, namely ALT, uric acid, creatinine, FBG, and laminin for Wilson’s disease complicated with FLD. The joint prediction achieved is crucial for identifying children with Wilson’s disease complicated with FLD.
Cardiovascular complications during delivery hospitalizations in patients with nonalcoholic fatty liver disease in pregnancy
Authors: Niu Chengu , Zhang Jing , Khalid Nida , Zhu Kaiwen , Syed Tausif , Liu Hongli , Okolo Patrick I. 
Published: June 2024

Objective
While the association between metabolic dysfunction-associated steatotic liver disease (MASLD) and long-term cardiovascular risks has been studied, the impact of MASLD on cardiovascular events during delivery hospitalizations remains relatively unexplored. This study aims to examine the prevalence of cardiovascular diseases (CVDs) and cardiac arrhythmias in pregnant patients with MASLD and identify potential risk factors.

Methods
A retrospective analysis of hospital discharge records from the National Inpatient Sample database between 2009 and 2019 was conducted to assess maternal cardiovascular outcomes. Multivariable logistic regression models were employed, and adjusted odds ratios (AOR) were calculated to evaluate the association between MASLD and cardiovascular outcomes during pregnancy.

Results
The study sample included 17 593 pregnancies with MASLD and 41 171 211 pregnancies without this condition. Women with MASLD exhibited an increased risk of congestive heart failure [AOR 3.45, 95% confidence interval (CI) 1.04–11.43], cardiac arrhythmia (AOR 2.60, 95% CI 1.94–3.49), and gestational hypertensive complications (AOR 3.30, 95% CI 2.93–3.72). Pregnancies with MASLD were also associated with a higher rate of pulmonary edema (AOR 3.30, 95% CI 1.60–6.81).

Conclusion
MASLD is an independent risk factor for cardiovascular complications during delivery hospitalizations, emphasizing the necessity for prepregnancy screening and targeted prevention strategies to manage CVD risks in expectant patients with MASLD.
Expression and Clinical Significance of Ki-67, CD10, BCL6, MUM1, c-MYC, and EBV in Diffuse Large B Cell Lymphoma Patients
Authors: Sadeghipour Alireza , Taha Seyed Reza , Shariat Zadeh Mahdieh , Kosari Farid , Babaheidarian Pegah , Fattahi Fahimeh , Abdi Navid , Tajik Fatemeh 
Published: June 2024

Introduction:
Diffuse large B cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma (NHL) in adults. Although studies regarding the association between the expression of Ki-67, CD10, BCL6, and MUM1 proteins, as well as c-MYC amplification and EBV status with clinicopathologic characteristics have rapidly progressed, their co-expression and prognostic role remain unsatisfactory. Therefore, this study aimed to investigate the association between the expression of all markers and clinicopathologic features and their prognostic value in DLBCL. Also, the co-expression of markers was investigated.

Methods:
The protein expression levels and prognostic significance of Ki-67, CD10, BCL6, and MUM1 were investigated with clinical follow-up in a total of 53 DLBCL specimens (including germinal center B [GCB] and activated B cell [ABC] subtypes) as well as adjacent normal samples using immunohistochemistry (IHC). Besides, the clinical significance and prognostic value of c-MYC and EBV status were also evaluated through chromogenic in situ hybridization (CISH), and their correlation with other markers was also assessed.

Results:
The results demonstrated a positive correlation between CD10 and BCL6 expression, with both markers being associated with the GCB subtype (P<0.001 and P=0.001, respectively). Besides, we observe a statistically significant association between MUM1 protein expression and clinicopathologic type (P<0.005) as well as a positive association between c-MYC and recurrence (P=0.028). Our survival analysis showed that patients who had responded to R-CHOP treatment had better overall survival (OS) and progression-free survival (PFS) than those who did not.

Conclusion:
Collectively, this study's results add these markers' value to the existing clinical understanding of DLBCL. However, further investigations are needed to explore markers' prognostic and biological roles in DLBCL patients.
Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Authors: Shayler Dominic W.H. , Stachelek Kevin , Cambier Linda , Lee Sunhye , Bai Jinlun , Reid Mark W. , Weisenberger Daniel J. , Bhat Bhavana , Aparicio Jennifer G. , Kim Yeha , Singh Mitali , Bay Maxwell , Thornton Matthew E. , Doyle Eamon K. , Fouladian Zachary , Erberich Stephan G. , Grubbs Brendan H. , Bonaguidi Michael A. , Craft Cheryl Mae , Singh Hardeep P. , Cobrinik David 
Published: June 2024

AbstractHuman cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing to distinguish post-mitotic cone and rod developmental states and identify cone-specific features that contribute to retinoblastomagenesis. The analyses revealed early post-mitotic cone- and rod-directed populations characterized by higher THRB or NRL regulon activities, an immature photoreceptor precursor population with concurrent cone and rod gene and regulon expression, and distinct early and late cone and rod maturation states distinguished by maturation-associated declines in RAX regulon activity. Unexpectedly, both L/M cone and rod precursors co-expressedNRLandTHRBRNAs, yet they differentially expressed functionally antagonisticNRLandTHRBisoforms and prematurely terminatedTHRBtranscripts. Early L/M cone precursors exhibited successive expression of several lncRNAs along withMYCN, which composed the seventh most L/M-cone-specific regulon, andSYK, which contributed to the early cone precursors’ proliferative response toRB1loss. These findings reveal previously unrecognized photoreceptor precursor states and a role for early cone-precursor-intrinsicSYKexpression in retinoblastoma initiation.Impact StatementFeatures acquired by early post-mitotic retinal cells underlie the distinct behaviors of rods and the cone cells of origin of retinoblastoma tumors.