bluuebunny/crossref_metadata_2025_split huggingface dataset:
Personalized circulating tumor DNA analysis for sensitive disease monitoring and detection of relapse in neuroblastoma
Authors: Rahmqvist Ida , Engström Enya , Mellström Elisabeth , Ibrahim Raghda R. , Pujol-Calderón Fani , Dahlstrand Rudin Agnes , Ordqvist Redfors Anna , Rostamzadeh Niki , Di Rienzo Rita , Franssila Wilma , Khashan Robert , Xylander Moe , Karlsson Christin , Ek Torben , Andersson Daniel , Österlund Tobias , Gaarder Jennie , Fagman Henrik , Fransson Susanne , Martinsson Tommy , Ståhlberg Anders , Dalin Martin 
Published: November 2024

AbstractCirculating tumor DNA (ctDNA) has shown potential as a non-invasive tumor biomarker in neuroblastoma. Previous studies used generic assays for detection of selected predefined oncogenic variants as markers of ctDNA, which limits the sensitivity and excludes a subset of patients from analysis. Here we assessed patient-specific ctDNA analysis for treatment evaluation and detection of relapse in neuroblastoma. We generated personalized sequencing panels targeting 10 tumor-specific single nucleotide variants (SNVs) for each patient and performed ctDNA analysis of 136 plasma samples collected longitudinally in 13 children with neuroblastoma. ctDNA was detected using ultra-deep next generation sequencing with unique molecular identifiers to eliminate polymerase-induced errors. We found that the levels of ctDNA at diagnosis correlated with risk group and decreased gradually during effective treatment. All samples collected during follow-up in patients without disease relapse were ctDNA-negative. All four relapses were associated with elevated ctDNA levels, and a majority of the analyzed SNVs were detected at time of relapse. In one case, ctDNA became positive 78 days before the relapse was diagnosed with routine assessment and increased by over a thousandfold before the start of additional treatment. Overall, ctDNA was more uniformly elevated at diagnosis, showed less putative false positive results, and was more sensitive for detection of relapse compared to five serum or urine tumor markers used in clinical routine. In conclusion, personalized ctDNA analysis is suitable for clinical monitoring of tumor burden and may be used in all neuroblastoma patients regardless of risk group or tumor genetics.
MACC1 revisited – an in-depth review of a master of metastasis
Authors: Schöpe Paul Curtis , Torke Sebastian , Kobelt Dennis , Kortüm Benedikt , Treese Christoph , Dumbani Malti , Güllü Nazli , Walther Wolfgang , Stein Ulrike 
Published: November 2024

AbstractCancer metastasis remains the most lethal characteristic of tumors mediating the majority of cancer-related deaths. Identifying key molecules responsible for metastasis, understanding their biological functions and therapeutically targeting these molecules is therefore of tremendous value. Metastasis Associated in Colon Cancer 1 (MACC1), a gene first described in 2009, is such a key driver of metastatic processes, initiating cellular proliferation, migration, invasion, and metastasis in vitro and in vivo. Since its discovery, the value of MACC1 as a prognostic biomarker has been confirmed in over 20 cancer entities. Additionally, several therapeutic strategies targeting MACC1 and its pro-metastatic functions have been developed. In this review, we will provide a comprehensive overview on MACC1, from its clinical relevance, towards its structure and role in signaling cascades as well as molecular networks. We will highlight specific biological consequences of MACC1 expression, such as an increase in stem cell properties, its immune-modulatory effects and induced therapy resistance. Lastly, we will explore various strategies interfering with MACC1 expression and/or its functions. Conclusively, this review underlines the importance of understanding the role of individual molecules in mediating metastasis.
Homozygous CDKN2A/B deletions in low- and high-grade glioma: a meta-analysis of individual patient data and predictive values of p16 immunohistochemistry testing
Authors: Noack Darius , Wach Johannes , Barrantes-Freer Alonso , Nicolay Nils H. , Güresir Erdem , Seidel Clemens 
Published: November 2024

AbstractCDKN2A/B deletions are prognostically relevant in low- and high-grade gliomas. Data on this is derived from heterogeneous series, an accurate estimation of survival risk from homozygous CDKN2A/B deletion is missing. Besides genetic testing, p16-immunohistochemistry (IHC) as a less cost intensive means for indirect detection of CDKN2A/B alterations is possible but not validated in larger datasets. The present meta-analysis aimed to (1) reconstruct individual patient data (IPD) and estimate overall survival (OS) stratified by CDKN2A/B status from all literature and to (2) determine accuracy of p16 testing for CDKNA2/B detection from published studies. For survival analysis according to CDKN2A/B status 460 records were screened, four articles with 714 participants were included. In IDH-wildtype (IDH-wt) gliomas, 57.07% harbored the deletion compared to 9.76% in IDH-mutant (IDH-mut) gliomas. Median OS of patients with IDH-wt gliomas and homozygous CDKN2A/B deletion was 13.0 months compared to 18.0 months with non-deleted CDKN2A/B (p = 0.014, Log-Rank). With homozygous deletion of CDKN2A/B the risk of death was increased by 1.5 (95%-CI 1.1–2.1). Median OS in patients with IDH-mut gliomas without CDKN2A/B deletion was 92.0 months compared to 40.0 months with CDKN2A/B deletion (p < 0.001, Log-Rank). CDKN2A/B deletions were associated with a significantly shorter OS (HR = 3.2; 95%-CI 2.2–5.5). For p16 IHC analysis, 10 eligible studies with 1087 examined samples were included. The cut-off for retention differed between the studies. In 588/662 p16 retained cases CDKN2A/B deletions was not detected, implying a negative predictive value (NPV) of p16 staining of 88.8%. Conversely, 279/425 p16 absent cases showed a CDKN2A/B deletion resulting in a positive predictive value (PPV) of 65.6%. Sensitivity of p16 staining for CDKN2A/B detection was 79.0%, specificity 80.1%. Highest diagnostic accuracy of p16 IHC was reached with a cut-off of > 5% and within IDH-mut glioma.
Treatment of a left inguinal hernia with incarceration of the scope during colonoscopy: a case report and literature review
Authors: Numoto Ryo , Taniguchi Kohei , Imai Yoshiro , Asakuma Mitsuhiro , Tomiyama Hideki , Fujiwara Shinya , Nakanishi Yoshihiko , Hamaguchi Takuya , Masubuchi Shinsuke , Inoue Hitoshi , Kawai Masaru , Kinoshita Takashi , Morita Shinsho , Hayashi Michihiro , Lee Sang-Woong 
Published: November 2024

Abstract
Background
Colonoscopy is widely performed. However, reports of colonoscopic incarceration within inguinal hernias are rare. Incarceration during colonoscopy is a critical condition, and attempting forced reduction may exacerbate complications; therefore, a careful approach is required. Here, we present a case of colonoscopic incarceration of a left inguinal hernia that was successfully reduced under fluoroscopic guidance, followed by elective endoscopic surgery.

Case presentation
A 74-year-old man presented for colonoscopy at a primary care clinic and was referred to our hospital for the incarceration of the colonoscope within the inguinal hernia. On arrival, the colonoscope remained in situ through the anus. Laboratory tests and imaging studies confirmed the absence of perforation. Manual pressure was applied under fluoroscopic guidance to successfully reduce the hernia and allow for scope extraction. No evidence of perforation was revealed in the follow-up fluoroscopic examination using a gastrografin enema. Six weeks later, the patient underwent definitive surgery for total extraperitoneal hernia repair.

Conclusions
A complication of colonoscopy is the incarceration of the colonoscope within the inguinal hernia, particularly in older men. Therefore, inquiring about the patient’s history of inguinal hernia, particularly those accompanied by scrotal swelling, besides assessing the surgical history before performing a colonoscopy, is critical. Furthermore, recent trends include attempts at incarceration reduction under fluoroscopic guidance, with emergency surgery reserved for irreducible cases.
Association Between Inter-Limb Asymmetry and Determinants of Middle- and Long-distance Running Performance in Healthy Populations: A Systematic Review
Authors: D’Hondt Joachim , Chapelle Laurent , Bishop Chris , Aerenhouts Dirk , De Pauw Kevin , Clarys Peter , D’Hondt Eva 
Published: November 2024

Abstract
Background
The presence of inter-limb asymmetry in the human body has traditionally been perceived to be detrimental for athletic performance. However, a systematic review addressing and comprehensively assessing the association of asymmetry between the lower limbs and middle- and long-distance running performance-related metrics is currently lacking.

Objective
The main purpose of this systematic review was to examine the relationship between lower inter-limb asymmetry and determinants of running performance in healthy middle- and long-distance runners. The secondary objective was to identify possible avenues for further research in this area.

Methods
PubMed, Web of Science and SPORTDiscus were systematically searched for studies investigating the relationship between lower inter-limb asymmetry and (determinants of) running performance in healthy and injury-free middle- and long-distance runners. The quality of studies eligible for inclusion was assessed using the Downs and Black Quality Index Tool.

Results
Out of 4817 articles screened, 8 studies were included in this review which assessed the association between functional, morphological, kinematic and kinetic asymmetry and running performance-related metrics. The quality score of the included research varied between 5/10 and 9/10. Our results revealed mixed findings, showing both significant negative (n = 16) and positive (n = 1) associations as well as no significant associations (n = 30) between inter-limb asymmetry and running performance-related metrics.

Conclusions
A high heterogeneity across study methods and outcomes was apparent, making it difficult to draw a straightforward conclusion. Our results indicate that the majority of metrics of functional, morphological, kinematic and kinetic inter-limb asymmetry are negatively or not associated with running performance (and/or its determinants). Thus, a more extensive high-quality body of research using standardised asymmetry magnitude metrics is essential to determine whether, and to what extent asymmetry between the lower limbs could affect middle- and long-distance running performance. Future studies should establish potential trade-off values to help practitioners develop evidence-based training programs.

Key Points

In the majority of the metrics, the magnitude of lower inter-limb asymmetry was negatively or not associated with middle- and long-distance running performance.

Coaches, athletes and researchers should be attentive of the task, time- and metric-specificity as well as the inter- and intra- individual variability of magnitude outcomes, when assessing inter-limb asymmetries.
The impact of herd age structure on the performance of commercial sow-breeding farms
Authors: Sanz-Fernández Santos , Díaz-Gaona Cipriano , Simões João , Casas-Rosal José Carlos , Alòs Nuria , Tusell Llibertat , Quintanilla Raquel , Rodríguez-Estévez Vicente 
Published: November 2024

Abstract
Background
The herd age structure, i.e., distribution of sows within a farm based on their parity number, and its management are essential to optimizing farm reproductive efficiency. The objective of this study is to define different types of herd age structure using data from 623 Spanish commercial sow farms. Additionally, this study aims to determine which type of herd age structure can enhance reproductive efficiency at the farm level.

Results
Farms are classified into three groups according to the quadratic function fitted to the percentage of sows by parities. This classification unveils three types of herd structures: type 1 (HS1) exhibits a concave-downward trend, with a higher percentage of sows in intermediate parities (mean of 45.5% sows between the 3rd to 5th parity); type 2 (HS2) presents a trend curve that is close to a straight line, with a gradual decrease in the percentage of sows per parity (approximately 2% loss of sows census per parity); and type 3 (HS3) shows an upward concave trend curve, with an increase in the percentage of sows in later parities (19.0% of sows between 7th and ≥ 8th parity). Parametric tests assess productivity differences between the three types of herd structures (p < 0.01). HS1 farms have the best productive outcomes over a year, with 31.2 piglets weaned per sow and year (PWSY) and a farrowing rate of 87%, surpassing HS2 and HS3 farms (30.1 and 28.7 PWSY; 85.3% and 83.4% farrowing rates, respectively). HS1 also have the lowest percentage of sows returning to oestrus (11.8%) and the highest number of weaned piglets per litter (12.8), compared to HS2 (13.2% and 12.4 piglets weaned) and HS3 (15.1%, 11.9 piglets weaned). These differences show a medium effect size (η2 between 0.06 to < 0.14).

Conclusions
This study shows the importance of herd age structure on sow-breeding farms as a factor of reproductive efficiency. The results endorse the proposed classification based on the curvature of the trend parabola obtained with the quadratic function to categorize herd structures into three groups. Additionally, these findings highlight the importance of considering the herd age structure in farm decision-making.
Correlates of self-reported distress in end-stage kidney dialysis patients using the distress thermometer score
Authors: Yoowannakul Suree , Vongsanim Surachet , Tangvoraphonkchai Kamonwan , Davenport Andrew 
Published: November 2024

Abstract
Introduction
Haemodialysis patients self-report increased levels of anxiety and depression. We wished to determine the prevalence of distress in a multi-ethnic dialysis population and patient factors associated with distress.

Methods
We reviewed self-reported distress thermometer (DT) scores from 971 haemodialysis patients with corresponding laboratory investigations, bioimpedance body composition and hand grip strength (HGS).

Results
The median age was 66.0 (55–75) years, 62.9% were male, 46.5% were of white ethnicity and 45.4% were diabetic. The results showed that 57.4% were classified as having no/minimal, 34% moderate, and 8.7% severe distress. Frailty increased from 31.5% to 47.9% and 56%, in the none/minimal, mild to moderate and severe distress groups (χ2 17.6, p = 0.001), as did smoking (12.9% versus 16.7% versus 25%, χ2 12.5, p = 0.001), and more patients reporting severe distress had suffered a previous myocardial infarction (MI) (17.4% versus 16.7% versus 27.4%, χ2 7.1, p = 0.029). Haemoglobin decreased (109.6 ± 14.6 versus 107.6 ± 14.2 versus 103.5 ± 14.4 g/L, p < 0.001) as did HGS (18.9 (12.8–26.5) versus 17.1 (11.8–23.9) versus 15.4 (11.1–22.6) kg, p < 0.05). On ordinal multivariable analysis, increasing distress was associated with smoking (β 0.55, 95% confidence interval (CI) (0.17–0.92), p = 0.004), previous MI (β 0.47 (0.09–0.83), p = 0.015), serum calcium (β 1.11, (0.3–1.9), p = 0.007), lower age (β  −0.016, (−0.03 to −0.005), p = 0.003), haemoglobin (β  −0.014 (−0.02 to −0.004), p = 0.008) and HGS (β  −0.12 (−0.04 to −0.005), p = 0.013).

Conclusion
Younger age, higher calcium, lower haemoglobin and muscle strength, previous MI and smoking were associated with increasing levels of distress in this multi-ethnic dialysis population. Thus, both psychological and physical treatments are required to reduce stress levels for haemodialysis patients.
Prediction of COVID-19 based on neurological manifestations using a fuzzy logic system
Authors: Ahmed Marwa Abdellah Osman , Azim Ghada Saed Abdel , Elsayed Yasser 
Published: November 2024

Abstract
Background
COVID-19, caused by the SARS-CoV-2 virus, is one of the most known pandemics ever affecting human life and global economics. Recently, it has shown several symptoms related to different organ systems, including the nervous system, represented in some reported neurological manifestations. Therefore, a smart prediction system that can determine the likelihood and certainty of having COVID-19 based on those neurological manifestations can help in early detection of the disease, which helps in diagnosis and limiting the prevalence of COVID-19.

Patients and methods
This study involved a comprehensive data collection process. We gathered information from thousands of patients, encompassing both neurological and non-neurological manifestations of COVID-19. This data, derived from various research works, including mild and moderate cases, was then subjected to rigorous statistical analysis. The results of this analysis formed the basis for the design of a fuzzy interference system (FIS), which utilizes a fuzzy logic approach to determine the certainty of COVID-19 based on neurological symptoms.

Results
Statistical analysis of the collected data showed neurological symptoms in all surveyed cases in the first week of the COVID-19 presentation. Headache has been reported in 70–80% of all cases; anosmia–dysgeusia showed up in 50–60% of total cases; Myalgia presented in 40–45% of all cases; Fatigue was there in 30–35% of the surveyed cases; dizziness was recorded in 30–35% of patients; 0–10% of subjects showed noncommon symptoms like numbness, migraine, loss of concentration, and seizures. By applying these statistical results to the fuzzification process and developing the rulesets, the fuzzy logic-based forecasting system could determine the certainty of COVID-19 with high accuracy, reaching 95% by comparing it with the clinical data.

Conclusions
Surveying neurological and non-neurological symptoms of thousands of COVID-19 patients in many related literature showed neurological manifestations in all patients with different ratios and weights, including mild and moderate cases, by statistically analyzing these data to form the rulesets of a predesigned fuzzy logic-based forecasting system. The fuzzy logic system was able to yield a successful prediction of the likelihood of having COVID-19 in a group of patients based on their neurological symptoms with an accuracy of 95% by comparing the predicted data with the clinical data.
Investigating the association of exon variant rs1800470 of TGF-β1 gene with the risk of stroke using a meta-analysis approach
Authors: Zabihi sheshpoli Mohammadhossein , Eslami Bahman , Seyedalipour Bagher 
Published: November 2024

AbstractIschemic stroke is a type of stroke in which blood vessel blockage prevents blood supply to the brain. Transforming growth factor beta 1 (TGF-β1) is involved in the pathophysiology of several inflammatory diseases, including ischemic stroke. This study aimed to examine the relationship between rs1800470 (T869C) genetic variation in TGF-β1 gene and the risk of stroke in a meta-analysis approach. In a systematic review, we evaluated trustworthy databases and ultimately included nine eligible studies involving a total of 13,609 participants in our meta-analysis. The strength of association of rs1800470 variation with stroke risk evaluated using the odds ratio and 95% confidence interval. Stratified assessment was also performed according to ethnicity, type of stroke, and genotyping methods. Our data demonstrated substantial correlation between rs1800470 variation and elevated risk of stroke in overall analysis. Also, significant correlations were observed after ethnicity-based stratified analysis and genotyping methods. TGFβ1-rs1800470 could be regarded as a molecular biomarker for identifying at-risk individuals.
Efficacy and safety of ziltivekimab in patients with chronic kidney disease susceptible to inflammatory diseases: a systematic review and meta-analysis of randomized controlled trials
Authors: Elrosasy Amr , Sabbagh Dalal , Assaf Mohammad , Tarakhan Husam , Afyouni Ahmad , Elgendy Marwa O. , Abdelaty Lamiaa N. , Omar Refaat H. , Zabady Ahmed Hamdy 
Published: November 2024

Abstract
Background
Patients with chronic kidney disease (CKD) are at risk of developing conditions such as atherosclerosis and inflammation-induced anemia (AI) due to persistent inflammation. Ziltivekimab, an antibody targeting interleukin-6, is being studied for its potential to reduce inflammatory markers in these patients.

Methods
Following PRISMA guidelines, we searched for relevant randomized controlled trials (RCTs) up to August 20, 2023, and analyzed the data using RevMan 5.4 software. The study period spanned from February 18, 2023, to September 23, 2023. We assessed efficacy outcomes such as high-sensitivity C-reactive protein (hs-CRP), serum amyloid A (SAA), and both high-density lipoprotein (HDL) and low-density lipoprotein (LDL), as well as safety outcomes, including adverse events (AEs) and infections. Pooled results were calculated using the random effects model and inverse variance method, with mean differences (MD) and risk ratios (RR) presented alongside 95% confidence intervals (CI).

Results
Our review included three RCTs with a total of 473 patients. Compared to the placebo group, patients treated with ziltivekimab showed significantly lower levels of hs-CRP, fibrinogen, and SAA (MD = − 51.64, 95% CI [− 73.73 to − 29.56], P < 0.00001; MD = − 48.23, 95% CI [− 61.73 to − 34.72], P < 0.00001; MD = − 26.34, 95% CI [− 38.63 to − 14.04], P < 0.0001, respectively). There was a notable increase in LDL and HDL levels (MD = 5.92, 95% CI [2.53 to 9.31], P = 0.0006, I2 = 0%; MD = − 5.73, 95% CI [3.75 to 7.71], P < 0.00001, I2 = 0%, respectively). No significant difference in AEs or infections was observed between the two groups. Meta-regression analysis indicated a significant linear relationship between the dose of ziltivekimab and its effect on hs-CRP levels.

Conclusion
Ziltivekimab showed promise in significantly lowering inflammatory markers without a significant impact on AEs or infections, positioning it as a valuable treatment option for patients with chronic kidney disease CKD who are susceptible to inflammatory diseases, particularly atherosclerosis and autoimmune conditions.
Oral Sodium Loading Test Is More Sensitive Than Seated Saline Infusion Test to Confirm Overt Primary Aldosteronism
Authors: Duquet Laurence , Lefebvre Laura , Lemaire-Paquette Samuel , Malick Mandy , Mallet Pierre-Luc , St-Jean Matthieu 
Published: November 2024

Abstract

Context
Primary aldosteronism (PA), a frequent but underdiagnosed cause of hypertension, is associated with a significant burden of cardiovascular and renal complications. Studies have reported divergent results regarding the diagnostic performance of seated saline infusion test (SSIT) and oral sodium loading test (OSLT), 2 confirmatory tests recommended by the Endocrine Society Clinical Practice Guidelines. To our knowledge, no study directly compared the results of SSIT and OSLT to diagnose overt PA.

Objective
We assessed the diagnostic performance of SSIT and OSLT in a group of patients with hypertension and elevated screening aldosterone–renin ratio (ARR). The diagnostic standard was defined as hypertension with or without hypokalemia with an elevated screening ARR and at least 1 abnormal confirmation test including OSLT and SSIT.

Methods
A monocentric retrospective study was conducted, including 87 patients with hypertension with a positive screening who underwent both SSIT and OSLT. A diagnostic performance analysis was conducted using urinary aldosterone at a threshold of 27 nmol/day as the criterion for OSLT, in comparison to a plasma aldosterone concentration (PAC) exceeding 140 pmol/L following the saline infusion.

Results
A statistically significant difference in sensitivity was observed between OSLT and SSIT, with OSLT demonstrating superior performance (P = .025). The aforementioned test exhibited concordance in 59 cases (65.5%), indicating that these methods are not equivalent (McNemar test P = .036).

Conclusion
OSLT demonstrated a significantly higher sensitivity for diagnosing overt PA in comparison with the SSIT in our cohort of patients with hypertension with an abnormal screening ARR.