bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive Analysis of the Value of SMYD Family Members in the Prognosis and Immune Infiltration of Malignant Digestive System Tumors
Authors: Liu Donghui , Wang Xuyao , Shi Enhong , Wang Liru , Nie Minghao , Li Long , Jiang Qingxin , Kong Pengyu , Shi Shuai , Wang Chao , Yan Sen , Qin Zhihui , Zhao Shuang 
Published: July 2021

BackgroundThe SET and MYND domain-containing (SMYD) gene family comprises a set of genes encoding lysine methyltransferases. This study aimed to clarify the relationship between the expression levels of SMYD family members and the prognosis and immune infiltration of malignant tumors of the digestive system.MethodsThe Oncomine, Ualcan, Kaplan–Meier Plotter, cBioPortal, Metascape, and TIMER databases and tools were used to analyze the correlation of SMYD family mRNA expression, clinical stage, TP53 mutation status, prognostic value, gene mutation, and immune infiltration in patients with esophageal carcinoma (ESCA), liver hepatocellular carcinoma (LIHC), and stomach adenocarcinoma (STAD).ResultsIn ESCA, the mRNA expression of SMYD2/3/4/5 was significantly correlated with the incidence rate, that of SMYD2/3 with the clinical stage, that of SMYD2/3/4/5 with TP53 mutation status, that of SMYD2/4/5 with overall survival (OS), and that of SMYD1/2/3/4 with relapse-free survival (RFS). In LIHC, the mRNA expression of SMYD1/2/3/4/5 was significantly correlated with the incidence rate, that of SMYD2/4/5 with the clinical stage, that of SMYD3/5 with TP53 mutation status, that of SMYD2/3/4/5 with OS, and that of SMYD3/5 with RFS. In STAD, the mRNA expression of SMYD2/3/4/5 was significantly correlated with the incidence rate, that of SMYD1/4 with the clinical stage, that of SMYD1/2/3/5 with TP53 mutation status, that of SMYD1/3/4 with OS, and that of SMYD1/3 with RFS. Furthermore, the function of SMYD family mutation-related genes in ESCA, LIHC, and STAD patients was mainly related to pathways, such as mitochondrial gene expression, mitochondrial matrix, and mitochondrial translation. The expression of SMYD family genes was significantly correlated with the infiltration of six immune cell types and eight types of immune check sites.ConclusionSMYD family genes are differentially expressed and frequently mutated in malignant tumors of the digestive system (ESCA, LIHC, and gastric cancer). They are potential markers for prognostic prediction and have important significance in immunity and targeted therapy.
Case Report and Review of the Literature: Bullous Skin Eruption After the Booster-Dose of Influenza Vaccine in a Pediatric Patient With Polymorphic Maculopapular Cutaneous Mastocytosis
Authors: Sarcina Davide , Giovannini Mattia , Oranges Teresa , Barni Simona , Pedaci Fausto Andrea , Liccioli Giulia , Canessa Clementina , Sarti Lucrezia , Lodi Lorenzo , Filippeschi Cesare , Azzari Chiara , Ricci Silvia , Mori Francesca 
Published: July 2021

Vaccination is a well-known trigger for mast cell degranulation in subjects affected by mastocytosis. Nevertheless, there is no exact standardized protocol to prevent a possible reaction after a vaccine injection, especially for patients who have already presented a previous vaccine-related adverse event, considering that these patients frequently tolerate future vaccine doses. For this reason, we aim to share our experience at Meyer Children’s University Hospital in Florence to raise awareness on the potential risk for future vaccinations and to discuss the valuable therapeutic strategies intended to prevent them, taking into account what is proposed by experts in literature. We describe the case of an 18-month-old female affected by a polymorphic variant of maculopapular cutaneous mastocytosis that presented an extensive bullous cutaneous reaction 24 hours after the second dose (booster dose) of inactivated-tetravalent influenza vaccine, treated with a single dose of oral corticosteroid therapy with betamethasone (0.1 mg/kg) and an oral antihistamine therapy with oxatomide (1 mg/kg/daily) for a week, until resolution. To the best of our knowledge, in the literature, no documented case of reaction to influenza vaccine in maculopapular cutaneous mastocytosis is described. Subsequently, the patient started a background therapy with ketotifen daily (0.05 mg/kg twice daily), a non-competitive H1-antihistamine, and a mast cell stabilizer (dual activity). A non-standardized pharmacological premedication protocol with an H1-receptor antagonist (oxatomide, 0.5 mg/kg) administered 12 hours before the immunizations, and a single dose of betamethasone (0.05 mg/kg) together with another dose of oxatomide (0.5 mg/kg) administered 2 hours before the injections was followed to make it possible for the patient to continue with the scheduled vaccinations. Indeed, no reactions were subsequently reported. Thus, in our experience, a background therapy with ketotifen associated with a premedication protocol made by two doses of oxatomide and a single dose of betamethasone was helpful to make possible the execution of the other vaccines. We suggest how in these children, it could be considered the idea of taking precaution when vaccination is planned, regardless of the kind of vaccine and if a dose of the same vaccine was previously received. However, international consensus needs to be reached to manage vaccinations in children with mastocytosis and previous adverse reactions to vaccines.
NPM1 Is a Prognostic Biomarker Involved in Immune Infiltration of Lung Adenocarcinoma and Associated With m6A Modification and Glycolysis
Authors: Liu Xu-Sheng , Zhou Lu-Meng , Yuan Ling-Ling , Gao Yan , Kui Xue-Yan , Liu Xiao-Yu , Pei Zhi-Jun 
Published: July 2021

BackgroundOverexpression of NPM1 can promote the growth and proliferation of various tumor cells. However, there are few studies on the comprehensive analysis of NPM1 in lung adenocarcinoma (LUAD).MethodsTCGA and GEO data sets were used to analyze the expression of NPM1 in LUAD and clinicopathological analysis. The GO/KEGG enrichment analysis of NPM1 co-expression and gene set enrichment analysis (GSEA) were performed using R software package. The relationship between NPM1 expression and LUAD immune infiltration was analyzed using TIMER, GEPIA database and TCGA data sets, and the relationship between NPM1 expression level and LUAD m6A modification and glycolysis was analyzed using TCGA and GEO data sets.ResultsNPM1 was overexpressed in a variety of tumors including LUAD, and the ROC curve showed that NPM1 had a certain accuracy in predicting the outcome of tumors and normal samples. The expression level of NPM1 in LUAD is significantly related to tumor stage and prognosis. The GO/KEGG enrichment analysis indicated that NPM1 was closely related to translational initiation, ribosome, structural constituent of ribosome, ribosome, Parkinson disease, and RNA transport. GSEA showed that the main enrichment pathway of NPM1-related differential genes was mainly related to mTORC1 mediated signaling, p53 hypoxia pathway, signaling by EGFR in cancer, antigen activates B cell receptor BCR leading to generation of second messengers, aerobic glycolysis and methylation pathways. The analysis of TIMER, GEPIA database and TCGA data sets showed that the expression level of NPM1 was negatively correlated with B cells and NK cells. The TCGA and GEO data sets analysis indicated that the NPM1 expression was significantly correlated with one m6A modifier related gene (HNRNPC) and five glycolysis related genes (ENO1, HK2, LDHA, LDHB and SLC2A1).ConclusionNPM1 is a prognostic biomarker involved in immune infiltration of LUAD and associated with m6A modification and glycolysis. NPM1 can be used as an effective target for diagnosis and treatment of LUAD.
Antibodies Can Last for More Than 1 Year After SARS-CoV-2 Infection: A Follow-Up Study From Survivors of COVID-19
Authors: Xiao Kaihu , Yang Haiyan , Liu Bin , Pang Xiaohua , Du Jianlin , Liu Mengqi , Liu Yajie , Jing Xiaodong , Chen Jing , Deng Songbai , Zhou Zheng , Du Jun , Yin Li , Yan Yuling , Mou Huaming , She Qiang 
Published: July 2021

Background: COVID-19 is a global pandemic. The prevention of SARS-CoV-2 infection and the rehabilitation of survivors are currently the most urgent tasks. However, after patients with COVID-19 are discharged from the hospital, how long the antibodies persist, whether the lung lesions can be completely absorbed, and whether cardiopulmonary abnormalities exist remain unclear.Methods: A total of 56 COVID-19 survivors were followed up for 12 months, with examinations including serum virus-specific antibodies, chest CT, and cardiopulmonary exercise testing.Results: The IgG titer of the COVID-19 survivors decreased gradually, especially in the first 6 months after discharge. At 6 and 12 months after discharge, the IgG titer decreased by 68.9 and 86.0%, respectively. The IgG titer in patients with severe disease was higher than that in patients with non-severe disease at each time point, but the difference did not reach statistical significance. Among the patients, 11.8% were IgG negative up to 12 months after discharge. Chest CT scans showed that at 3 and 10 months after discharge, the lung opacity had decreased by 91.9 and 95.5%, respectively, as compared with that at admission. 10 months after discharge, 12.5% of the patients had an opacity percentage &gt;1%, and 18.8% of patients had pulmonary fibrosis (38.5% in the severe group and 5.3% in the non-severe group, P &lt; 0.001). Cardiopulmonary exercise testing showed that 22.9% of patients had FEV1/FVC%Pred &lt;92%, 17.1% of patients had FEV1%Pred &lt;80%, 20.0% of patients had a VO2 AT &lt;14 mlO2/kg/min, and 22.9% of patients had a VE/VCO2 slope &gt;30%.Conclusions: IgG antibodies in most patients with COVID-19 can last for at least 12 months after discharge. The IgG titers decreased significantly in the first 6 months and remained stable in the following 6 months. The lung lesions of most patients with COVID-19 can be absorbed without sequelae, and a few patients in severe condition are more likely to develop pulmonary fibrosis. Approximately one-fifth of the patients had cardiopulmonary dysfunction 6 months after discharge.
Implications of Lifestyle Factors and Polygenic Risk Score for Absolute Risk Prediction of Colorectal Neoplasm and Risk-Adapted Screening
Authors: Chen Hongda , Liu Li , Lu Ming , Zhang Yuhan , Lu Bin , Zhu Ying , Tian Jianbo , Li Xinying , Nie Shaofa , Miao Xiaoping , Dai Min 
Published: July 2021

Background: Estimation of absolute risk of developing colorectal neoplasm is essential for personalized colorectal cancer (CRC) screening. We developed models to determine relative and absolute risks of colorectal neoplasm based on lifestyle and genetic variants and to validate their application in risk-adapted screening.Methods: We prospectively collected data from 203 advanced neoplasms, 464 non-advanced adenomas, and 1,213 healthy controls from a CRC screening trial in China in 2018–2019. The risk prediction model based on four lifestyle factors and a polygenic risk score (PRS) consisted of 19 CRC-associated single-nucleotide polymorphisms. We assessed the relative and 10-year absolute risks of developing colorectal neoplasm and the yield of a risk-adapted screening approach incorporating risk models, fecal immunochemical test, and colonoscopy.Results: Compared to the participants with favorable lifestyle and lower PRS, those with unfavorable lifestyle and higher PRS had 2.87- and 3.79-fold higher risk of colorectal neoplasm in males and females, respectively. For a 50-year-old man or a 50-year-old woman with the highest risk profile, the estimated 10-year absolute risk of developing colorectal neoplasm was 6.59% (95% CI: 6.53–6.65%) and 4.19% (95% CI: 4.11–4.28%), respectively, compared to 2.80% (95% CI: 2.78–2.81%) for men and 2.24% (95% CI: 2.21–2.27%) for women with the lowest risk profile. The positive predictive value for advanced neoplasm was 31.7%, and the number of colonoscopies needed to detect one advanced neoplasm was 3.2.Conclusion: The risk models, absolute risk estimates, and risk-adapted screening presented in our study would contribute to developing effective personalized CRC prevention and screening strategies.
Decreased Functional Connectivity of Vermis-Ventral Prefrontal Cortex in Bipolar Disorder
Authors: Li Huanhuan , Liu Hu , Tang Yanqing , Yan Rongkai , Jiang Xiaowei , Fan Guoguang , Sun Wenge 
Published: July 2021

Objectives: To investigate changes in functional connectivity between the vermis and cerebral regions in the resting state among subjects with bipolar disorder (BD).Methods: Thirty participants with BD and 28 healthy controls (HC) underwent the resting state functional magnetic resonance imaging (fMRI). Resting-state functional connectivity (rsFC) of the anterior and posterior vermis was examined. For each participant, rsFC maps of the anterior and posterior vermis were computed and compared across the two groups.Results: rsFC between the whole vermis and ventral prefrontal cortex (VPFC) was significantly lower in the BD groups compared to the HC group, and rsFC between the anterior vermis and the middle cingulate cortex was likewise significantly decreased in the BD group.Limitations: 83.3% of the BD participants were taking medication at the time of the study. Our findings may in part be attributed to treatment differences because we did not examine the effects of medication on rsFC. Further, the mixed BD subtypes in our current study may have confounding effects influencing the results.Conclusions: These rsFC differences of vermis-VPFC between groups may contribute to the BD mood regulation.
Metastatic Urachal Carcinoma Treated With Several Different Combined Regimens: A Case Report
Authors: Zheng Han , Song Wei , Feng Xiemin , Zhao Hong 
Published: July 2021

Urachal carcinoma is a rare bladder malignance. This study presents a case of an elderly patient with urachal carcinoma who was found to have pulmonary metastases 1 year after 5 recurrent resections. The patient was treated with up to 7 different chemotherapy regimens, including a VEGF monoclonal antibody and anti-PD-1 antibody. This is the first report of PD-1 antibody being used in patients with urachus, although the disease progressed after only four cycles of the application. The patient’s disease was controlled by the FOLFIRI combined with the VEGF monoclonal antibody regimen. The most prominent issues at present are the difficulty of obtaining drugs for rare cancers and the lack of late-stage clinical trials to guide therapeutic decisions.
Management of Clinically Involved Lateral Lymph Node Metastasis in Locally Advanced Rectal Cancer: A Radiation Dose Escalation Study
Authors: Pang Xiaolin , Huang Liang , Ma Yan , Liu Zhanzhen , Xie Peiyi , Liu Hailing , Wan Xiangbo , Liu Shuai , Zheng Jian 
Published: July 2021

BackgroundPatients with lateral lymph nodes (LLNs) metastasis are not effectively treated with neoadjuvant chemoradiotherapy. This study aimed to compare the efficacy of three neoadjuvant therapeutic regimens, namely, chemotherapy, chemoradiotherapy, and chemoradiotherapy with a dose boost of LLNs, and to identify the optimal approach for treating LLNs metastasis of locally advanced rectal cancer.MethodsA total of 202 patients with baseline LLNs metastasis (short axis ≥5 mm) and treated with neoadjuvant treatment, followed by radical surgery from 2011 to 2019, were enrolled. The short axis of the LLNs on baseline and restaging MRI were recorded. Survival outcomes were compared.ResultsIn the booster subgroup, shrinkage of LLNs was significantly greater than in the neoadjuvant chemotherapy and chemoradiotherapy subgroups (P &lt;0.001), without increasing radiation related side effects (P = 0.121). For patients with baseline LLNs of short axis ≥5 mm in the booster subgroup, the response rate (short axis &lt;5 mm on restaging MRI) was 72.9%, significantly higher than patients in the neoadjuvant chemotherapy subgroup (48.9%, P = 0.007) and higher than for patients in the neoadjuvant chemoradiotherapy group (65.0%), but there was no statistical difference (P = 0.411). The 3-year local recurrence and lateral local recurrence rates were both 2.3% in the dose booster group, which were lower than those of the other two subgroups (local recurrence: P &lt;0.001; lateral local recurrence: P &lt;0.001). The short axis of lateral lymph nodes (≥5 and &lt;5 mm) on restaging MRI was an independent risk factor for prognosis (P &lt;0.05).ConclusionRadiation dose boost is an effective way of increasing the response rate and decreasing recurrence rates. The restaging LLNs with short axis ≥5 mm is a predictor of poor prognosis.
Adherence to Computer-Assisted Surgical Planning in 136 Maxillofacial Reconstructions
Authors: Ma Hongyang , Shujaat Sohaib , Van Dessel Jeroen , Sun Yi , Bila Michel , Vranckx Jan , Politis Constantinus , Jacobs Reinhilde 
Published: July 2021

ObjectiveTo investigate the adherence to initially planned maxillofacial reconstructions using computer-assisted surgery (CAS) and to identify the influential factors affecting its compliance for maxillofacial reconstruction.Patients and MethodsA retrospective analysis of 136 computer-assisted maxillofacial reconstructive surgeries was conducted from January 2014 to June 2020. The categorical parameters involved age, gender, disease etiology, disease site, defect size, bone flap segments, and flap type. Apart from descriptive data reporting, categorical data were related by applying the Fisher-exact test, and a p-value below 5% was considered statistically significant (P &lt; 0.05).ResultsThe main reasons for partial or non-adherence included unfitness, patient health condition, and other subjective reasons. Out of the total patient population, 118 patients who underwent mandibular reconstruction showed higher CAS compliance (83.9%) compared to the 18 midface reconstruction (72.2%) without any statistically significant difference (p = 0.361). Based on the size of the defect, a significantly higher CAS compliance (p = 0.031) was observed with a minor defect (80.6%) compared to the large-sized ones (74.1%). The bone flaps with two or more segments were significantly (p = 0.003) prone to observe a partial (15.4%) or complete (12.8%) discard of the planned CAS compared to the bone flaps with less than two segments. The malignant tumors showed the lowest CAS compliance when compared to other disorders without any significant difference (p = 0.1).ConclusionThe maxillofacial reconstructive surgical procedures offered optimal compliance to the initially planned CAS. However, large-sized defects and multiple bone flap segments demonstrated a higher risk of partial or complete abandonment of the CAS.
Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature
Authors: Wang Dong , Song Li , Shen Li , Zhang Kaihui , Lv Yuqiang , Gao Min , Ma Jian , Wan Ya , Gai Zhongtao , Liu Yi 
Published: July 2021

Background: Hereditary spherocytosis (HS), characterized by the presence of spherocytic red cells in peripheral blood, hemolysis, splenomegaly, jaundice, and gallstones, is a common form of inherited hemolytic anemia (HA). To date, five causative genes associated with HS have been identified, including ANK1, SPTB, SPTA1, SLC4A1, and EPB42.Methods: Clinically suspected patients with HS or undiagnosed HA from 14 Chinese families were enrolled in this study. We presented the patients’ clinical features and identified the causative gene variants in these patients using whole exome sequencing (WES), with 10 novel and four reported mutations in the ANK1 and SPTB genes (seven mutations in ANK1 and seven in SPTB), individually. Then, we reviewed all available literature on Chinese HS patients from 2000 to 2020 in PubMed and Chinese Journals with genetic results and clinical information, to delineate gene mutation spectrum and potential correlation with phenotypes.Results: A total of 158 variants (including 144 in previous reports and 14 in this study) indicated that ANK1 (46%) and SPTB (42%) were the most frequently mutated genes in Chinese HS patients, followed by SLC4A1 (11%) and SPTA1 (1%), while no mutations in EPB42 was reported. Most of the mutations in ANK1 and SPTB were nonsense (26/73 in ANK1 and 32/66 in SPTB) and frameshift (20/73 in ANK1 and 15/66 in SPTB), while missense mutations (14/18) accounted for the majority in SLC4A1. The higher mutation frequency of ANK1 was found in its exon 8, 9, 26, and 28. The majority of mutations in SPTB were located in its exon 13, 15, and 18–30, whereas mutations in SLC4A1 were scattered throughout the entire region of the gene.Conclusion: Our study expanded the mutation spectrum of ANK1 and SPTB. Furthermore, we clarified the mutational characteristics of causative genes by reviewing all available literature on Chinese patients with HS.
Which Head and Neck Cancer Patients Are Most at Risk of High Levels of Fear of Cancer Recurrence
Authors: Rogers Simon N. , Monssen Camilla , Humphris Gerald M. , Lowe Derek , Kanatas Anastasios 
Published: July 2021

Background: Fear of cancer recurrence (FCR) is recognized as a common concern for patients with head and neck cancer (HNC). The aim of this study is to describe in greater detail the demographic and clinical characteristics of HCN patients who indicate a high level of FCR in their review consultation.Methods: A pragmatic cluster-controlled trial was conducted between January 2017 and December 2018 at two UK HNC centers (Leeds and Liverpool) to test the efficacy of a prompt tool called the Patient Concerns Inventory (PCI). Patients completed the PCI and the UW-QOLv4 which included a single 5 category rating of FCR. Secondary statistical analyses focused on variables associated with high FCR.Results: Two hundred and eighty-eight trial patients were recruited in this trial. At a median of 194 days after diagnosis and 103 days after the end of treatment 8% stated (n = 24) “I get a lot of fears of recurrence and these can really preoccupy my thoughts” and 3% (n = 8) “I am fearful all the time that my cancer might return, and I struggle with this.” Thus, 11% (n = 32) responded in the worst two categories, 95% Confidence interval 7.7–15.3% for high FCR. Stepwise logistic regression resulted in female gender (p &lt; 0.001), age (p = 0.007), and receiving financial benefits (p = 0.01) as independent predictors.Conclusions: Around one in ten HNC patients attending routine outpatient follow-up consultations report high FCR, however for female patients under the age of 55 the rate was one in three. This group requires specialist attention and could be the focus of a multicenter intervention trial.