bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incidence of cancer in chronic inflammatory demyelinating polyneuropathy: a nationwide cohort study in South Korea
Authors: Choi Kyomin , Jung Sohee , Jung Gucheol , Kim Dayoung , Oh Jeeyoung 
Published: August 2024

BackgroundChronic inflammatory demyelinating polyneuropathy (CIDP) is a rare disease, and the potential risk of cancer in patients with CIDP remains an important concern during treatment. However, a comprehensive epidemiological study examining this association is yet to be conducted. This study aimed to investigate the incidence of cancer in patients with CIDP in South Korea using data from the Korean Health Insurance Review and Assessment Service (HIRA) database.MethodsData from the HIRA database between January 2016 and June 2021 were analyzed. The actual incidence of cancer in patients with CIDP was compared with the expected incidence based on the general population statistics in South Korea, with adjustments for age.ResultsIn total, 888 patients with CIDP were included in the analysis, of whom 50 (5.63% of malignancy incidence) were newly diagnosed with cancer during the study period. Among the patients with CIDP diagnosed with cancer, 32 (64.00%) were aged 60 years or older, and 36 (72.00%) were male. The observed number of cancer diagnoses corresponded to an incidence rate of 5.63%, with a standardized incidence ratio (SIR) of 2.83 (95% confidence interval [CI]: 1.89–4.39) compared to the expected cancer incidence rate of 2.00%. Notably, the SIR for malignancies of lymphoid, hematopoietic, and related tissues, excluding malignant immunoproliferative diseases, multiple myeloma, and plasma cell neoplasms (C81-96, except C88 and C90), was the highest at 8.51 (95% CI: 4.18–19.83).ConclusionOur study shows a potential association between CIDP and an increased risk of hematological malignancies, which is consistent with previous investigations. Further studies are required to better understand the relationship between CIDP and cancer.
Association between copper intake and essential hypertension: dual evidence from Mendelian randomization analysis and the NHANES database
Authors: Miao Qing , Zhang Jingtao , Yun Yingjie , Wu Wei , Luo Chuanjin 
Published: August 2024

BackgroundAlthough previous studies have identified an association between trace elements and essential hypertension, the specific trace elements involved and the mechanisms of their association remain unclear. This study aimed to elucidate the relationship between various human trace elements and essential hypertension, thereby addressing existing gaps in the research.MethodsThis study employed two-sample, multivariate, and inverse Mendelian randomization (MR) analyses to investigate the causal relationship between 15 human trace elements as exposure factors and essential hypertension as the outcome. The analysis revealed a statistically significant association between copper intake and essential hypertension. Further validation was conducted using logistic regression models based on data from the National Health and Nutrition Examination Survey (NHANES).ResultsEighteen trace elements were initially identified through searches in the GWAS database and PubMed. After screening, 15 trace elements were selected as potential exposure factors. MR analysis, utilizing the 2021 genome-wide dataset for essential hypertension, identified copper as a risk factor, showing a positive association with hypertension. Subsequent logistic regression analyses based on NHANES data further confirmed a significant association between dietary copper intake and the risk of essential hypertension, except for the 0.80–1.08 mg/d group in model 3 (p &lt; 0.05). Restricted cubic spline (RCS) analysis indicated a nonlinear relationship between copper intake and the risk of developing essential hypertension.ConclusionThis study demonstrates a significant association between copper intake and the development of essential hypertension. The findings suggest that higher copper intake is linked to an increased risk of hypertension, underscoring the need to monitor copper intake levels in the prevention and management of this condition.
Exploring the causal relationship between the immune cell-inflammatory factor axis and lung cancer: a Mendelian randomization study
Authors: Zhu Lin , Jin Zhi 
Published: August 2024

BackgroundLung cancer is a major health burden globally and smoking is a well-known risk factor. It has been observed that chronic inflammation contributes to lung cancer progression, with immune cells and inflammatory cytokines implicated in tumor development. Clarifying the causal links between these immune components and lung cancer could enhance prevention and therapy.MethodsWe performed Mendelian randomization (MR) to explore causal connections between immune cells, inflammatory markers, and lung cancer risk, using genetic variants as instruments. Data from GWAS on these variables underpinned our MR analyses.ResultsOur findings indicated an inverse association between some immune cells and lung cancer risk, implying that more immune cells might be protective. NK T cells (CD16-CD56) and myeloid cells (HLA DR+ on CD33dim HLA DR+ CD11b+) had an inverse correlation with lung cancer risk. Furthermore, a direct relationship was observed between inflammatory cytokines and these immune cells. In contrast, IL-18 was inversely associated with lung cancer, while IL-13 showed a direct correlation.ConclusionThe study underscores the role of immune and inflammatory factors in lung cancer. These insights could lead to new therapeutic strategies for combating lung cancer.
Case report: Individualized 3D-printed uncemented distal fibular prosthesis preserving the lateral malleolus for repair of distal fibular defects
Authors: Xie Mengzhang , Gong Taojun , Wang Yitian , Li Zhuangzhuang , Zhang Yuqi , Lu Minxun , Luo Yi , Min Li , Tu Chongqi , Zhou Yong 
Published: August 2024

BackgroundInvolvement of the distal fibula by alveolar soft-part sarcoma is rare. Extensive resection or amputation may be needed; however, distal fibula resection can disrupt foot and ankle biomechanics, leading to ankle joint instability. Reports on joint preservation for maintaining optimal ankle joint function are scarce. Computer-aided design and individualized three-dimensional (3D)-printed uncemented implants represent an evolving solution for reconstructing the distal fibula.Case presentationA 34-year-old woman was diagnosed with alveolar soft-part sarcoma in the right lower leg involving the cortical bone of the fibula. After anlotinib treatment, the tumor size decreased, and the tumor response rate was a partial response (PR); however, the patient continued to experience adverse reactions. With multiple disciplinary team discussions, surgical resection was deemed appropriate. Due to the extensive defect and ankle joint instability after resection, a custom-made 3D−printed prosthesis was designed and fabricated to reconstruct the defect, preserving the lateral malleolus. During the follow-up, the patient achieved favorable ankle function, and no prosthesis-related complications were observed.Conclusion3D-printed personalized uncemented implants constitute a novel approach and method for addressing the reconstruction issues of the distal fibula and ankle joint. Through the personalized design of 3D-printed prostheses, the lateral malleolus can be preserved, ensuring the normal anatomical structure of the ankle joint. They achieve a well-integrated interface between the prosthesis and bone, ensuring satisfactory postoperative function. Additionally, they offer valuable insights for reconstructing distal bone defects near joints in the extremities. However, confirming these findings requires extensive cohort studies.
Exploration of the causal relationship between inflammatory cytokines and prostate carcinoma: a comprehensive Mendelian randomization study
Authors: Cai Xianfu , Wang Decai , Ding Chenguang , Li Yang , Zheng Jin , Xue Wujun 
Published: August 2024

BackgroundProstate cancer (PCa) is one of the most prevalent malignancies affecting males; however, the role of inflammatory activity in the pathogenesis of this disease is not yet fully elucidated. Although inflammation is recognized as being closely associated with the onset and progression of PCa, the specific causal relationships between individual inflammatory factors and the disease require further clarification.MethodsMendelian randomization (MR) methodologies can mitigate bias by utilizing whole-genome sequencing data, leveraging specific genetic variants to assess causal relationships between a given exposure and an outcome of interest. This research employed an MR approach to investigate the association between inflammatory cytokines and PCa.ResultsIn total, 44 inflammatory cytokines were evaluated in a large GWAS dataset to enable the drawing of robust conclusions. Elevated circulating C-reactive protein (CRP) and prostaglandin E2 (PGE-2) levels were related to greater PCa risk. The reverse Mendelian randomization (MR) study indicates a causal relationship between prostate cancer and stem cell factor (SCF) (P=0.025).ConclusionCRP and PGE-2 play crucial roles in the regulation of PCa development. Moreover, PCa may have an impact on SCF levels. Further research is imperative to elucidate whether these biomarkers can be effectively utilized to prevent or treat PCa.
Influence of H19 polymorphisms on breast cancer: risk assessment and prognostic implications via LincRNA H19/miR-675 and downstream pathways
Authors: Qi Ying , Zhao Pengfei 
Published: August 2024

IntroductionBreast cancer, as the most prevalent malignancy among women globally, continues to exhibit rising incidence rates, particularly in China. The disease predominantly affects women aged 40 to 60 and is influenced by both genetic and environmental factors. This study focuses on the role of H19 gene polymorphisms, investigating their impact on breast cancer susceptibility, clinical outcomes, and response to treatment.MethodsWe engaged 581 breast cancer patients and 558 healthy controls, using TaqMan assays and DNA sequencing to determine genotypes at specific loci (rs11042167, rs2071095, rs2251375). We employed in situ hybridization and immunohistochemistry to measure the expression levels of LincRNA H19, miR-675, MRP3, HOXA1, and MMP16 in formalin-fixed, paraffin-embedded samples. Statistical analyses included chi-squared tests, logistic regression, and Kaplan-Meier survival curves to evaluate associations between genetic variations, gene expression, and clinical outcomes.ResultsGenotypes AG at rs11042167, GT at rs2071095, and AC at rs2251375 were significantly associated with increased risk of breast cancer. Notably, the AA genotype at rs11042167 and TT genotype at rs2071095 were linked to favorable prognosis. High expression levels of LincRNA H19, miR-675, MRP3, HOXA1, and MMP16 in cancer tissues correlated with advanced disease stages and poorer survival rates. Spearman correlation analysis revealed significant positive correlations between the expression of LincRNA H19 and miR-675 and specific genotypes, highlighting their potential regulatory roles in tumor progression.DiscussionThe study underscores the critical roles of LincRNA H19 and miR-675 as prognostic biomarkers in breast cancer, with their overexpression associated with disease progression and adverse outcomes. The H19/LincRNA H19/miR-675/MRP3-HOXA1-MMP16 axis offers promising targets for new therapeutic strategies, reflecting the complex interplay between genetic markers and breast cancer pathology.ConclusionThe findings confirm that certain H19 SNPs are associated with heightened breast cancer risk and that the expression profiles of related genetic markers can significantly influence prognosis and treatment response. These biomarkers hold potential as targets for personalized therapy and early detection strategies in breast cancer, underscoring the importance of genetic research in understanding and managing this disease.
Celiac disease diagnosis: transglutaminase, duodenal biopsy and genetic tests correlations
Authors: Schesquini-Roriz Katia Regina Pena , Rodríguez Gloria Maria Fraga , Castellanos Jocelyn Cristina Betancourt , Martinez-Martinez Laura , Guerrero Susana Boronat , Rodrigo Carlos , Badell Isabel 
Published: August 2024

IntroductionCeliac disease (CD) is an autoimmune enteropathy triggered by gluten ingestion in genetically susceptible individuals. The haplotypes HLA-DQ2 and DQ8, transglutaminase (TGA) antibodies, and biopsy findings are the main tests performed in the evaluation and CD diagnosis. The objective was to establish possible correlations between transglutaminase levels, genetic markers tests, and qualitative intestinal biopsy findings (modified Marsh classification) at the diagnosis.MethodsA retrospective cohort study. The selection criteria were confirmed CD cases with genetic tests performed. Statistical analysis was done mainly through One-way ANOVA, Kendall's correlation coefficient (T), and linear regression.ResultsThe study included 112 patients, with a mean age of 6 ± 4 years. All cases were tested to HLA-DQ2, and it was positive in 93%. HLA-DQ8 was tested in 73% of cases and it was positive in 61%. The percentage of negative genetic markers (DQ2/DQ8) was 4.5% for patients tested to both haplotypes. A comparison of DQ2/DQ8 (positive and negative) with clinical findings and tests performed did not identify any differences for most of the parameters analyzed. Cases of type I diabetes presented significant negative expression for DQ2(−); p = 0.05 and positive expression for DQ8(+); p = 0.023. The TGA antibody levels ranged from 18 to 36,745 U/ml. An inverse correlation was found between age and TGA-L level (p = 0.043). In 23% of the cases, the TGA levels were greater than 1,000 U/ml and presented a moderate positive correlation with the atrophy biopsy profile (T = 0.245). Patients with an atrophic biopsy profile (Marsh III) had a moderate positive correlation with growth failure (T = 0.218) but a negative correlation with constipation (T = −0.277).ConclusionIn terms of diagnosis tests for CD, transglutaminase levels and age presented an inverse correlation, with the level decreasing as age increased. A moderately positive correlation was found between mean transglutaminase with intestinal atrophy and growth retardation. The genetic test DQ2 was positive for 93% and negative genetic markers (DQ2/DQ8) represented 4.5% of cases studied.
Interaction between tacrolimus and calcium channel blockers based on CYP3A5 genotype in Chinese renal transplant recipients
Authors: Zong Huiying , Zhang Yundi , Liu Fengxi , Zhang Xiaoming , Yang Yilei , Cao Xiaohong , Li Yue , Li Anan , Zhou Penglin , Gao Rui , Li Yan 
Published: August 2024

ObjectiveTo investigate the effect of calcium channel blockers (CCBs) on tacrolimus blood concentrations in renal transplant recipients with different CYP3A5 genotypes.MethodsThis retrospective cohort study included renal transplant recipients receiving tacrolimus-based immunosuppressive therapy with or without CCBs in combination. Patients were divided into combination and control groups based on whether or not they were combined with CCBs, and then further analyzed according to the type of CCBs (nifedipine/amlodipine/felodipine). Propensity score matching was conducted for the combination and the control groups using SPSS 22.0 software to reduce the impact of confounding factors. The effect of different CCBs on tacrolimus blood concentrations was evaluated, and subgroup analysis was performed according to the patients’ CYP3A5 genotypes to explore the role of CYP3A5 genotypes in drug-drug interactions between tacrolimus and CCBs.ResultsA total of 164 patients combined with CCBs were included in the combination groups. After propensity score matching, 83 patients with nifedipine were matched 1:1 with the control group, 63 patients with felodipine were matched 1:2 with 126 controls, and 18 patients with amlodipine were matched 1:3 with 54 controls. Compared with the controls, the three CCBs increased the dose-adjusted trough concentration (C0/D) levels of tacrolimus by 41.61%–45.57% (P &lt; 0.001). For both CYP3A5 expressers (CYP3A5*1*1 or CYP3A5*1*3) and non-expressers (CYP3A5*3*3), there were significant differences in tacrolimus C0/D between patients using felodipine/nifedipine and those without CCBs (P &lt; 0.001). However, among CYP3A5 non-expressers, C0/D values of tacrolimus were significantly higher in patients combined with amlodipine compared to the controls (P = 0.001), while for CYP3A5 expressers, the difference in tacrolimus C0/D values between patients with amlodipine and without was not statistically significant (P = 0.065).ConclusionCCBs (felodipine/nifedipine/amlodipine) can affect tacrolimus blood concentration levels by inhibiting its metabolism. The CYP3A5 genotype may play a role in the drug interaction between tacrolimus and amlodipine. Therefore, genetic testing for tacrolimus and therapeutic drug monitoring are needed when renal transplant recipients are concurrently using CCBs.
How to elicit a negative bias? Manipulating contrast and saturation with the facial emotion salience task
Authors: Tholl Sarah , Sojer Christian A. , Schmidt Stephanie N. L. , Mier Daniela 
Published: August 2024

IntroductionEmotion recognition impairments and a tendency to misclassify neutral faces as negative are common in schizophrenia. A possible explanation for these deficits is aberrant salience attribution. To explore the possibility of salience driven emotion recognition deficits, we implemented a novel facial emotion salience task (FEST).MethodsSixty-six healthy participants with variations in psychometric schizotypy completed the FEST. In the FEST, we manipulated physical salience (FEST-1: contrast, FEST-2: saturation) of emotionally salient (positive, i.e., happy and negative, i.e., fearful) and non-salient (neutral) facial expressions.ResultsWhen salience was high (increased contrast), participants recognized negative facial expressions faster, whereas neutral faces were recognized more slowly and were more frequently misclassified as negative. When salience was low (decreased saturation), positive expressions were recognized more slowly. These measures were not associated with schizotypy in our sample.DiscussionOur findings show that the match between physical and emotional salience influences emotion recognition and suggest that the FEST is suitable to simulate aberrant salience processing during emotion recognition in healthy participants.
Childhood ADHD and subthreshold symptoms are associated with cognitive functioning at age 40—a cohort study on perinatal birth risks
Authors: Schiavone Nella , Virta Maarit , Leppämäki Sami , Launes Jyrki , Vanninen Ritva , Tuulio-Henriksson Annamari , Järvinen Ilkka , Lehto Eliisa , Hokkanen Laura 
Published: August 2024

IntroductionIn this prospective cohort study over 40 years we investigated the effect of childhood attention-deficit/hyperactivity disorder (ADHD) and subthreshold ADHD on cognitive performance in adulthood.MethodsThe cohort comprised individuals with mild perinatal risks. Childhood ADHD group (cADHD, n = 39) was compared to a group with subthreshold childhood attention or hyperactivity symptoms (cAP; n = 79), a group with similar perinatal risks but no ADHD symptoms (n = 255), and to controls without ADHD symptoms or perinatal risks (n = 69). The groups were assessed with multiple neuropsychological measures in domains of verbal reasoning, perceptual skills, memory, working memory, attention, executive functions, and speed. Group-level differences and frequencies of deficient functioning were analyzed.ResultsOverall, the groups’ performance differed in all cognitive domains at age 40. Verbal reasoning, perceptual skills, memory, and speed had the largest effect sizes (0.51–0.62). The cADHD group’s performance was lower than the other groups’ on 13 out of 21 measures. The cAP group performed poorer than controls on five measures. In the cADHD group, 23% had three or more deficient cognitive domains, compared to 4–6% in the other groups.DiscussionChildhood ADHD is associated with impaired cognitive functioning in adulthood on several cognitive domains whereas childhood subthreshold ADHD is linked to fewer cognitive deficits. Task complexity was linked to poorer performance within the ADHD group. Our results add to the scarce longitudinal evidence of cognitive outcomes related to childhood ADHD and subthreshold symptoms.
Parental stress and associated factors among parents of preterm neonates admitted at neonatal intensive care unit among selected governmental hospitals Addis Ababa, Ethiopia, 2022. An institution-based cross-sectional study
Authors: Tilahun Befkad Derese 
Published: August 2024

BackgroundThe birth of a preterm infant and their subsequent admission to the Neonatal Intensive Care Unit (NICU) is a distressing and challenging experience for parents. The stress experienced by parents can have a significant impact on their mental health, parenting behaviors, and the parent-infant relationship. Recognizing and addressing the stressors faced by parents in the NICU is essential for promoting their well-being and facilitating positive parent-infant interactions.MethodsA cross-sectional study was conducted at healthcare facilities. The participants for the study were selected using a systematic sampling method, where the sampling interval (K) was calculated for each hospital. Data collection involved the use of a pretested structured questionnaire administered by interviewers. The collected data was analyzed using the Statistical Package for the Social Sciences (SPSS) version 25.0. Simple and multivariable linear regression analyses were performed. Statistical significance was determined using a p-value of less than 0.05.ResultsThe accompanying mother (β = 3.094, 95% CI: 3.615, 6.550), length of NICU stay greater than 10 days (β = 5.823, 95% CI: 1.759–9.887), the gestational week between 34 -37 weeks (β = -3.509, 95% CI: -6.358, -.659), parents with college degrees and above (β = -8.667, 95% CI: (-14.111,3.223), mothers who delivered via cesarean section (β = 2.468, 95% CI: -1.822, 4.759), parents without a history of neonatal NICU admission (β = -6.16, 95% CI: -11.69, -.63), and parents whose infant without ventilation (β = -2.755, 95% CI:. -5.492, -.0189) were significantly associated with parental stress.ConclusionParent in this setting revealed high levels of stress during their premature infants’ NICU admission. The gestational week, educational status of the parents, mode of admission, and mode of delivery were found to have significant associations with parental stress. It is important for healthcare providers to recognize and understand the stress experienced by parents when caring for families with preterm infants in the NICU. They should provide support and assistance to parents as they navigate the challenges and stress that come with this situation.