bluuebunny/crossref_metadata_2025_split huggingface dataset:
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes
Authors: Song Seulki , Koh Youngil , Kim Seokhyeon , Lee Sang Mi , Kim Hyun Uk , Ko Jung Min , Lee Se-Hoon , Yoon Sung-Soo , Park Solip 
Published: December 2023

Abstract
Background
Despite the acceleration of somatic driver gene discovery facilitated by recent large-scale tumor sequencing data, the contribution of inherited variants remains largely unexplored, primarily focusing on previously known cancer predisposition genes (CPGs) due to the low statistical power associated with detecting rare pathogenic variant-phenotype associations.

Methods
Here, we introduce a generalized log-regression model to measure the excess of pathogenic variants within genes in cancer patients compared to control samples. It aims to measure gene-level cancer risk enrichment by collapsing rare pathogenic variants after controlling the population differences across samples.

Results
In this study, we investigate whether pathogenic variants in Mendelian disease-associated genes (OMIM genes) are enriched in cancer patients compared to controls. Utilizing data from PCAWG and the 1,000 Genomes Project, we identify 103 OMIM genes demonstrating significant enrichment of pathogenic variants in cancer samples (FDR 20%). Through an integrative approach considering three distinct properties, we classify these CPG-like OMIM genes into four clusters, indicating potential diverse mechanisms underlying tumor progression. Further, we explore the function of PAH (a key metabolic enzyme associated with Phenylketonuria), the gene exhibiting the highest prevalence of pathogenic variants in a pan-cancer (1.8%) compared to controls (0.6%).

Conclusions
Our findings suggest a possible cancer progression mechanism through metabolic profile alterations. Overall, our data indicates that pathogenic OMIM gene variants contribute to cancer progression and introduces new CPG classifications potentially underpinning diverse tumorigenesis mechanisms.
Effects of early postnatal gastric and colonic microbiota transplantation on piglet gut health
Authors: Larsen Christina , Offersen Simone Margaard , Brunse Anders , Pirolo Mattia , Kar Soumya Kanti , Guadabassi Luca , Thymann Thomas 
Published: December 2023

Abstract
Background
Diarrhea is a major cause of reduced growth and mortality in piglets during the suckling and weaning periods and poses a major threat to the global pig industry. Diarrhea and gut dysbiosis may in part be prevented via improved early postnatal microbial colonization of the gut. To secure better postnatal gut colonization, we hypothesized that transplantation of colonic or gastric content from healthy donors to newborn recipients would prevent diarrhea in the recipients in the post-weaning period. Our objective was to examine the impact of transplanting colonic or gastric content on health and growth parameters and paraclinical parameters in recipient single-housed piglets exposed to a weaning transition and challenged with enterotoxigenic Escherichia coli (ETEC).

Methods
Seventy-two 1-day-old piglets were randomized to four groups: colonic microbiota transplantation (CMT, n = 18), colonic content filtrate transplantation (CcFT, n = 18), gastric microbiota transplantation (GMT, n = 18), or saline (CON, n = 18). Inoculations were given on d 2 and 3 of life, and all piglets were milk-fed until weaning (d 20) and shortly after challenged with ETEC (d 24). We assessed growth, diarrhea prevalence, ETEC concentration, organ weight, blood parameters, small intestinal morphology and histology, gut mucosal function, and microbiota composition and diversity.

Results
Episodes of diarrhea were seen in all groups during both the milk- and the solid-feeding phase, possibly due to stress associated with single housing. However, CcFT showed lower diarrhea prevalence on d 27, 28, and 29 compared to CON (all P < 0.05). CcFT also showed a lower ETEC prevalence on d 27 (P < 0.05). CMT showed a higher alpha diversity and a difference in beta diversity compared to CON (P < 0.05). Growth and other paraclinical endpoints were similar across groups.

Conclusion
In conclusion, only CcFT reduced ETEC-related post-weaning diarrhea. However, the protective effect was marginal, suggesting that higher doses, more effective modalities of administration, longer treatment periods, and better donor quality should be explored by future research to optimize the protective effects of transplantation.
Exploring the applicability of a lesion segmentation method on [18F]fluorothymidine PET/CT images in diffuse large B-cell lymphoma
Authors: Pitarch Germán , Rotstein Habarnau Yamila , Chirico Roxana , Konowalik Brenda , Pérez Amalia , Valda Alejandro , Bastianello María 
Published: December 2023

Abstract
Background and purpose
The determination of the total metabolic tumour volume based on [18F]fluorothymidine ([18F]FLT) PET/CT images in diffuse large B-cell lymphoma has a potential clinical value for detecting early relapse in this type of heterogeneous lymphoproliferative tumours. Tumour segmentation is a key step in this process. For this purpose, our objective was to determine a segmentation threshold of [18F]FLT PET/CT images, based on a reference tissue uptake, on a cohort of patients with diffuse large B-cell lymphoma (DLBCL) that have been scanned at different stages of the treatment.

Methods
We enrolled 23 adult patients with DLBCL confirmed in II-IV stages without nervous system compromise. All patients were scanned using [18F]FLT PET/CT at the time of diagnosis (baseline PET), interim PET (iPET), and at the end of treatment (fPET). The administered activity was 1.8–2.6 MBq/kg body weight, performed 60–70 min after injection and without use of contrast-enhanced CT. First, we assessed the [18F]FLT uptake stability in liver and bone marrow along the patient follow-up. For the lesion segmentation, three threshold values were assessed.

Results
Both, liver, and bone marrow can be indistinctly taken as reference tissue. The SUV threshold for a voxel to be considered as belonging to a lesion is expressed in terms of a percentage relative to the patient’s uptake in the reference tissue. Found thresholds were: for liver, 62%, 33%, 27%; and for bone marrow, 35%, 21% and 22%, for baseline, iPET and fPET stages, respectively. The relative threshold throughout the treatment has a decreasing tendency along the stages.

Conclusion
Based on the results obtained with [18F]FLT PET/CT during staging and follow-up in patients with DLBCL, reference values were obtained for each stage referring to liver and bone marrow uptake that could be used in clinical practice oncology.
The Role of DNMT1 and C/EBPα in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts
Authors: Zhu Ya-Nan , Pan Fan , Gan Xiao-Wen , Liu Yun , Wang Wang-Sheng , Sun Kang 
Published: December 2023

Abstract
Progesterone synthesized in the placenta is essential for pregnancy maintenance. CYP11A1 is a key enzyme in progesterone synthesis, and its expression increases greatly during trophoblast syncytialization. However, the underlying mechanism remains elusive. Here, we demonstrated that passive demethylation of CYP11A1 promoter accounted for the upregulation of CYP11A1 expression during syncytialization with the participation of the transcription factor C/EBPα. We found that the methylation rate of a CpG locus in the CYP11A1 promoter was significantly reduced along with decreased DNA methyltransferase 1 (DNMT1) expression and its enrichment at the CYP11A1 promoter during syncytialization. DNMT1 overexpression not only increased the methylation of this CpG locus in the CYP11A1 promoter, but also decreased CYP11A1 expression and progesterone production. In silico analysis disclosed multiple C/EBPα binding sites in both CYP11A1 and DNMT1 promoters. C/EBPα expression and its enrichments at both the DNMT1 and CYP11A1 promoters were significantly increased during syncytialization. Knocking-down C/EBPα expression increased DNMT1 while it decreased CYP11A1 expression during syncytialization. Conclusively, C/EBPα plays a dual role in the regulation of CYP11A1 during syncytialization. C/EBPα not only drives CYP11A1 expression directly, but also indirectly through downregulation of DNMT1, which leads to decreased methylation in the CpG locus of the CYP11A1 promoter, resulting in increased progesterone production during syncytialization.
Terminology and conceptual apparatus of tissue donation and tissue banking: interdisciplinary expert consensus (Part 1)
Authors: Kirilova I. A. , Aleynik D. Ya. , Basankin I. V. , Bozhkova S. A. , Borovkova N. V. , Vorobyev K. A. , Gilevich I. V. , Duginovа M. V. , Kozlovskikh et al. O. V. 
Published: December 2023

An interdisciplinary consensus of experts has been formed in the area of medical activity such as tissue banking. An analysis and attempt was made to systematize some of the terms and definitions used by tissue bank specialists in the process of their work and presented in the Federal laws and orders of the Ministry of Health of the Russian Federation regulating medical activities in the field of tissue donation and their clinical use.
Unraveling the therapeutic potential ofBombax ceibaroots: A comprehensive study of chemical composition, heavy metal content, antibacterial activity, andin silicoanalysis
Authors: Alrabie Ali , ALSaeedy Mohammed , Al-Adhreai Arwa , Al-Qadsy Inas , Al-Odayni Abdel-Basit , Saeed Waseem Sharaf , Hasan Ahmed , Farooqui Mazahar 
Published: December 2023

AbstractThis study sought to assess the heavy metal content, phytochemical composition, antibacterial activity, and absorption, distribution, metabolism, and excretion (ADME) properties ofBombax ceibaL. tree. The heavy metal content of the plant roots was determined using inductively coupled plasma-mass spectrometry technique, and it was found that only Cr, Mn, Fe, and Ni concentrations were above the permissible limits for edible plants. Gas chromatography-mass spectrometry analysis identified 11 phytochemicals in the aqueous extract of the plant. Bothin vitroandin silicoconfirmed the extract’s antibacterial efficacy. The aqueous extract showed significant antibacterial activity, with minimal inhibition concentration values of 125 µg/mL againstEscherichia coli,Staphylococcus aureus, andStreptococcus pyogenes. Among the 11 identified compounds, 1,8-Dioxa-5-thiaoctane,8-(9-borabicyclo[3,3,1]non-9-yl)-3-(9 borabicyclo[3,3,1]non-9-yloxy)-1-phenyl- showed the highest docking score (−8.31 kcal/mol) when docked into the active site ofE. coliMenB protein (PDB id: 3t88). It formed four hydrogen bonds with GLY86, GLY85, GLY132, and GLY133. Furthermore, the identified compounds were analyzed for ADME properties, most of them showed very good pharmacokinetic properties and did not violate Lipinski’s Rule of Five. Additional research is required to determine the medicinal potential of the compounds that have antibacterial activity.
Effects of pioglitazone and linagliptin on glycemic control, lipid profile and hs-CRP in metformin-treated patients with type 2 diabetes: a comparative study
Authors: Zamani Batool , Tabatabizadeh Seyyed Mashaalah , Gilasi Hamidreza , Yazdani Shadi 
Published: December 2023

Abstract

Objectives
The purpose of this study was to compare the effects of pioglitazone and linagliptin on glycemic control, lipid profile and high-sensitivity C-reactive protein (hs-CRP) parameters in patients with type 2 diabetes treated with metformin.

Methods
The present randomized clinical trial was conducted on 60 patients with type 2 diabetes treated with metformin in the age range of 30–60 years. The participants with informed consent were randomly assigned to receive pioglitazone or linagliptin. The first intervention group (n=30) received 30 mg of pioglitazone daily and the second intervention group (n=30) received 5 mg of linagliptin daily for 12 weeks. Fasting blood samples were taken from patients at the baseline and after 12 weeks to measure related variables. The current study was approved in Kashan University of Medical Sciences (with the code of ethics of IR.KAUMS.MEDNT.REC.1398.016), and the Iranian Registry of Clinical Trials (with the registration number of IRCT20170513033941N66).

Results
The linagliptin administration significantly reduced serum levels of fasting blood sugar (p=0.03), blood sugar 2 h after a meal (p=0.02), glycosylated hemoglobin (p=0.02) and hs-CRP (p=0.005) after 12 weeks compared with pioglitazone. In contrast, the pioglitazone administration significantly decreased triglyceride levels (p=0.01) and increased HDL-cholesterol (p=0.002) compared to linagliptin. In addition, the administration of both linagliptin and pioglitazone drugs had no significant effect on LDL-cholesterol, total cholesterol, systolic and diastolic blood pressure, creatinine and blood urea.

Conclusions
The present study demonstrated the superiority of linagliptin over pioglitazone for glycemic control, although pioglitazone compared to linagliptin showed greater efficacy in reducing triglycerides and raising HDL-cholesterol.
High performance efficiency of optical networking infrastructure characteristics with maximum speed of commercial fiber optic line cables employment
Authors: Gopalan Anitha , Arjunsingh Kishore Kumar , Ramya Mohanraj , Thangaraj Jayakumar , Venkatanaresh Mandyam , Rajendran Kanchana , Omran Omar Karem , Hossain Md. Amzad 
Published: December 2023

Abstract
Fiber optic communications have made great strides, and it is now the foundation of our telecommunications and data networking infrastructures. Due to its beneficial characteristics, including low attenuation, a large bandwidth, and immunity to electromagnetic interference, optical fiber is frequently acknowledged as a superior transmission medium. Optical fibers have been widely used to create high speed lines that can transmit either a single wavelength channel or many wavelength channels using wavelength division multiplexing due to their special features (WDM). The maximum speed of commercial fiber-optic cables was only 2.5 Gb/s and can be extended to 1 Tb/s for short and medium distance. The study clarifies the possible transmission distance for different transmission media silica/plastic optical fibers with various optical fiber window transmissions versus environmental ambient temperature variations. The study demonstrated the bad effects of the temperature effects on the optical fiber transmission media (silica/plastic fibers) for various transmission windows.
The Role and Value of Happiness in the Work of Paul Ricoeur
Authors: Verhoef Anné Hendrik 
Published: December 2023

Abstract
The role and value of happiness in the work of Paul Ricoeur remains an understudied theme. It is especially Ricoeur’s unique dialectical understanding of happiness, unhappiness, and chance which brings a crucial and much-needed insight and correction with regard to the understanding of happiness in our contemporary culture. For Ricoeur, happiness is always in relation to unhappiness, and it appreciates chance within the striving–receiving tension that remains characteristic of happiness. This understanding of happiness provides an alternative to the destructive notions of happiness that leave us trapped in the hedonistic treadmill, the endless unsatiable desires of our existence, the narcistic satisfaction of our needs, and the infinite unhappy pursuit of happiness.
The role of competitive intelligence in achieving participatory management within sports organizations
Authors: Guedri Abdennaceur 
Published: December 2023

Competitive intelligence is a process carried out by the institution to acquire, process, and distribute information related to competition and market. Its importance lies in the information and the knowledge collected by the organisation about its competitors.
This study aims to determine the nature of the relationship between competitive intelligence and participatory management. We used a random sample of employees in the Directorate of Youth and Sports Foundation - Tebessa, Estimated at 40 employees, and to collect data, we used the questionnaire and analyzed it through the statistical program SPSS. We found that competitive intelligence provides information and data about the organisation's external environment and keeps it abreast of development, prosperity, and growth. It has an effective role in the process of evaluating competitors and thus reduces competitive surprises. The importance of participatory management lies in allowing employees to develop their skills and talents by facing the management's problems.
An interplay between genes <i>SLCO1B1</i>, <i>NR2F2</i>, <i>JMJD1C</i> and obesity in developing breast cancer
Authors: Pasenov K. N. , Ponomarenko I. V. , Churnosov M. I. 
Published: December 2023

Aim: to evaluate a role of polymorphic variants rs4149056 SLCO1B1, rs8023580 NR2R2 and rs7910927 JMJD1C in developing obesity-related female breast cancer (BC).Materials and Methods. A retrospective comparative study was performed on a sample of 1,498 women (358 BC patients and 1,140 control subjects) stratified into 2 groups based on verified obesity: obese (119 BC patients and 253 control subjects) and non-obese (239 BC patients and 887 control subjects). Genotyping of three single nucleotide polymorphisms (SNP) – rs7910927 JMJD1C, rs8023580 NR2F2, rs4149056 SLCO1B1 was performed to be further analyzed separately in each group of obese and non-obese women for associations of such loci and interplay with breast cancer.Results. Polymorphisms rs8023580 NR2F2, rs4149056 SLCO1B1 and rs7910927 JMJD1C are not independently associated with BC in obese and non-obese women, whereas their interlocus interactions are BC-significant in each of the examined groups (pperm = 0.047 and pperm = 0.0012, respectively). Among obese women, the combination of TC-TT-GG genotypes (for rs8023580–rs4149056–rs7910927) is associated with a low risk of developing BC (β = –2.45), whereas the combination of TC-TC-GG genotypes is associated with increased BC risk (β=1.42). In non-obese women, a combination of the TC-TT-GT genotypes (β = –0.47) has a protective effect on the BC occurrence, and the risk effect is coupled to TC-TC-GT (β = 0.91) and TC-CC-GT (β = 1.45). The appearance of allele C rs4149056 in female genotype and its increased "concentration" results in higher BC risk.Conclusion. The allele variant C rs4149056 in the interlocus interactions between the SLCO1B1, NR2F2 and JMJD1C genes is a "universal" factor that elevates BC risk in both obese and non-obese women. The genotype GG rs7910927 is BC-significant in interlocus interactions in obese women, whereas in non-obese women it is coupled to the genotype GT rs7910927.
The prevalence of Cryptosporidium spp. and other intestinal parasites in elderly patients
Authors: ORAK Filiz , DOĞANER Adem , ARAL Murat , GÜVEN Hulusi , İNAL Şermin , PEMBE Büşra 
Published: December 2023

Purpose: Cryptosporidiosis is a self-limiting infection in individuals with immune competence, but it can have serious and life-threatening consequences in the elderly and immune-compromised individuals. In this study, we aimed to investigate the prevalence of Cryptosporidium spp. and other intestinal parasites and their relationship with symptoms in elderly patients.
Materials and Methods: The distribution of Cryptosporidium spp. and other intestinal parasites was prospectively evaluated in elderly patients admitted to different clinics of the university hospital between September 2018 and September 2019.
The study group included 40 elderly patients (18 females and 22 males; mean age: 73.35 ±6.55years) with gastrointestinal complaints and a control group consisting of 44 elderly patients without gastrointestinal complaints. Stool samples were examined using wet mount, and Kinyoun acid fast staining.
Results: The most frequently isolated parasites were amoeba cysts and trophozoites in elderly patients. Cryptosporidium spp. cysts were detected in 9 (22.5%) of patients with gastrointestinal symptoms, and in 13 (40.6%) of those with other complaints and in the control group. Cryptosporidium spp. cysts were found more common in those with a solid stool consistency than others with a watery stool consistency.
Conclusion: Cryptosporidiosis could be a life-threatening condition in a high-risk population, such as the elderly with co-morbidities, and physicians should have increased awareness.
Validity and Reproducibility of Typhoon Damage Estimates using Satellite Maps and Images
Authors: Perante Wenceslao C. 
Published: December 2023

The use of satellite maps and images in rapid assessments offers many advantages, but questions on validity, and reproducibility of data obtained is always a concern. This study usedsatellite maps and images to quickly assess the level of damage, the number of affected households, the number of affected individuals, and the status of roads and bridges after Typhoon Haiyan hit Tacloban City in November 8, 2013. Cohen’s Kappa and Intraclass Correlations (ICC) were used to determine validity and reproducibility of visual damage assessment data derived from pre and post satellite maps. Findings suggest that the use of satellite maps and imagery is valid and reproducible; but for estimates on affected households and individuals, results are poor to moderate suggesting that assessors for this parameter should have a background, training, and experience on visual rapid assessments to yield better results. This method offers many advantages, but it also has many limitations. This study presents the processes employed in visual data interpretation using satellite maps and images; recommendations for improvements are also presented. The use of satellite maps and images may be employed in situations requiring quick data that are vital in creating an effective, and informed emergency response after a natural disaster, thereby, making delivery of intervention, relief, and services to the affected public faster and more efficient.
Special features of microcirculatory disorders in patients with comorbid hypertension and rheumatoid arthritis
Authors: Samorodskaya N. A. , Eliseeva L. N. 
Published: December 2023

Background. During the recent years, there has been a steadily growing interest in the problems of microcirculatory disorders (MD) in patients with cardiological and rheumatological profile that is determined by a significant role of microcirculatory in the pathogenesis of these diseases.Objective. Analysis of the MD special features in patients with hypertension (HTN) and rheumatoid arthritis (RA).Design and methods. Patients matching the inclusion criteria by age (58,6 ± 6,4 years), debut (aged 45–64 years) and RA experience (7,2 ± 2,1 years) and HTN duration (11,2 ± 1,6 years) were divided into three groups: I group — 277 patients with stage II HTN; II group — 142 patients with stage II HTN and RA (in clinical and laboratory remission); group III — 112 patients with stage II HTN and RA (in clinical and laboratory exacerbation). The study of the microcirculatory bed was performed on an outpatient basis by laser Doppler flowmetry according to a standard technique. Results. Microcirculatory bed analysis in patients with HTN and RA showed the variability of indicators depending on gender characteristics, body weight and microcirculatory type. The study of the amplitude-frequency spectrum in women with stasis, in men with spastic and normocirculatory types of microcirculation showed an increase in neurogenic tone, endothelial activity and some decrease in the amplitude of oscillatory processes at the periphery.Conclusions. In patients with HTN and RA, changes at the microcirculatory level were determined, they manifested by an increase in adrenergic tone, spastic phenomena, endothelial activation, some decrease in blood flow variability and more pronounced vasomotor dysfunction that is not only the result of RA presence but its activity. RA in this situation could be regarded as a surrogate marker for the unfavorable course of HTN.