bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and Genetic Analysis of Li-Fraumeni Syndrome with Novel TP53 Mutations
Authors: Tian Yiping , Ma Zhengxiao , Wu Conghui , Chen Xu , Yue Zhuo , Ying Lisha , Su Dan 
Published: January 2024

Abstract
Objective
Mutations in the TP53 gene can cause Li-Fraumeni syndrome (LFS), an autosomal dominant genetic syndrome that increases susceptibility to various tumors. This study aims to explore the clinical and pathological features as well as the genetic characteristics of LFS to provide a theoretical basis for genetic counseling in affected families.
Methods
We conducted a retrospective analysis of clinical data and family history in three LFS cases with TP53 germline mutations. High-throughput sequencing technology was used to screen for hereditary tumor-related genes in the probands, and Sanger sequencing was used to confirm and analyze candidate pathogenic variant sites in their family members.
Results
Three different types of TP53 mutation variants were found in our study. The first family, spanning four generations and consisting of 30 individuals, included 9 adults diagnosed with 8 different types of cancer. Genetic testing revealed the TP53 c.642_643delTA p.H214Qfs*7 mutation in this family, showing that the age of onset tended to become younger in successive generations. The second family, with two patients having four different malignant tumors, carried the TP53 c.742C > T p.R248W mutation. This family had an average diagnosis age younger than the first family. The third proband, a 13-year-old boy, carried the TP53 c.844C > T p.R282W mutation and had no family history, indicating that this may be a new TP53 germline mutation in his family.
Conclusion
Our study identified and reported the pathogenic variant TP53 p.H214Qfs*7 frameshift mutation for the first time, expanding the mutation spectrum of the TP53 gene. We recommend timely genetic counseling and TP53 germline mutation testing for patients with childhood tumors or multiple familial tumors. Systematic monitoring of individuals carrying these mutations is crucial for early intervention to prevent primary and secondary tumors.
Ramsay-Hunt-Syndrome Associated with Unilateral Parotitis Following COVID-19 Vaccine
Authors: Soltanipur Masood , Yarmohammadi Hossein , Anari Seyed Fatah Mahdavi , Siadat Seyed Davar , Nemch Mohammadreza Karimi 
Published: January 2024

Abstract
Varicella-zoster-virus (VZV) reactivation is a recognized complication following COVID-19 vaccination; however, Ramsey-hunt-syndrome (RHS) rarely has been reported. This case presents a 36-year-old immunocompetent man with features of RHS three weeks following the second dose of the BBIBP-CorV (Sinopharm) vaccine. Interestingly, he developed acute unilateral parotitis on his left side and the ultrasonography showed a 55*44*18 mm parotid gland with decreased parenchymal echogenicity. He was treated with valacyclovir, and after seven days he was discharged. Also, his parotitis was resolved by day 29 following the presentation of the first symptoms with no further complications. The possibility of VZV reactivation after COVID-19 vaccination is an important point and it should be noted that this reactivation might present in unusual clinical scenarios.
Studies on new dithiophosphonic acid derivatives: Synthesis, characterization, DFT and molecular docking calculations and in vitro cytotoxicity assessment
Authors: Bulat Elif , Sağlam Ertuğrul Gazi , Akkoç Senem , Zeyrek Celal Tuğrul , Zorlu Yunus , Dal Hakan 
Published: January 2024

Abstract
2,4-bis(3,4-dimethoxyphenyl)-1,3-dithia-2,4-diphosphetane 2,4-disulfide (SAV-A1) was treated with five different alcohols to obtain dithiophosphonic acids (HLn, HS2P((2,4-CH3O)2-C6H3)(ORn); n=1-5, R1=n-pentyl-; R2=2-pentyl-; R3=4-tert-but-benzyl-; R4=2-propyl-; R5=2-butyl-). HLn series were converted to their ammonium salts, ([NH4Ln]). [NH4Ln] were reacted with NiCl2.6H2O to obtain the corresponding Ni(II) coordination compounds ([Ni(Ln)2]) in ethanol medium. The structures of all the compounds were elucidated by spectroscopic techniques. Single-crystal X-ray diffraction analysis of [Ni(L1)2], [Ni(L2)2], [Ni(L4)2] and [Ni(L5)2] were also carried out. The ligands and their nickel complexes were tested on human liver and colon cancer cell lines using (MTT) assay method. The salts [NH4L2] and [NH4L5] demonstrated more antiproliferative effects than others in colon cancer cell line with IC50 values 82.73 and 74.87 µM, respectively. Density Functional Theory (DFT) calculations of [Ni(L1)2], [Ni(L2)2], [Ni(L4)2] and [Ni(L5)2] were done. The molecular docking studies of [Ni(L1)2], [Ni(L2)2], [Ni(L4)2] and [Ni(L5)2] with colon cancer antigen proteins, ID 2HQ6 and liver cancer protein, PDB ID: 3WZE were done to foresee the interactions of the complexes.
Antibacterial and antibiofilm activities from soil Streptomyces spp. isolated from Muna Island, Indonesia against multidrug-resistant clinical isolates.
Authors: Prastya Muhammad Eka , Simbolon Sumihartati , Priyanto Jepri Agung , Hasidu La Ode Abdul Fajar , Permatasari Vera , Primahana Gian , Dewi Rizna Triana , Kristiana Rhesi , Suryanti Erma 
Published: January 2024

Abstract
The global increase in multidrug-resistant (MDR) bacterial infection has rapidly been gaining concern and leading for investigating new strategies to tackle this problem. In this study, the antibacterial potential of 25 soil actinomycetes strain has been evaluated by initial screening against MDR bacterial strains including Escherichia coli strain M19, Pseudomonas aeruginosa strain M19, Klebsiella pneumoniae strain M19, Bacillus subtilis strain M19, and Methicillin Resistant Staphylococcus aureus (MRSA). Among them, three actinomycetes isolates encoded APM-7, APM-11, and APM-21 exhibited strong and a broad antibacterial spectrum, hence there were selected for further study to extract its secondary metabolites following antibacterial, and antibiofilm assessment. The ethyl acetate extract of those three selected actinomycetes were evaluated for its antibacterial spectrum, and the minimum inhibitory concentration (MIC) ranged from 78 to 10000 µg/mL. Those extracts also displayed significant biofilm inhibition values ranging from 6.06 to 72.4%. Based on the results, APM-21 extract showed the best antibacterial and antibiofilm activities with the strongest values. Further, nucleotide sequencing of the 16S rRNA gene showed that these three potential strains APM-7, APM-11, and APM-21 to have identity with Streptomyces cyaneus, Streptomyces coerulescens, and Streptomyces panayensis, respectively. Moreover, based on Liquid Chromatography Tandem-Mass Spectrometry (LC-MS/MS) analysis, two antibacterial compounds namely rancimanycin III, and enteromycin were detected in all those three extracts. Interestingly, APM-21 extract also contains two prominent antibacterial substances including paramagnetoquinone C, and caerulomycin I, suggesting their contribution to the most potential activities recorded in this study. Ultimately, our study provides new insights into a promising candidate for use in an active compound combating strategy to prevent MDR bacterial strains infection.
Investigation on the biological activities of an amino alcohol ligand and its salicylaldehyde schiff base along with their copper complexes supported by structural, spectral, theoretical and docking studies
Authors: Jahangir Shirin , Mardani Zahra , Moeini Keyvan , Dušek Michal , Eigner Václav 
Published: January 2024

Abstract
Two complexes, [Cu(AEAE)Cl]Cl (1) and {[Cu2(L)2(µ3-NO3)]NO3}n (2), (AEAE: (2-((2-aminoethyl)amino)ethan-1-ol), HL: 2-(((2-((2-hydroxyethyl)amino)ethyl)imino)methyl)phenol), were prepared by template reaction (for 2) and identified by elemental analysis, FT-IR spectroscopy and single-crystal X-ray diffraction. The complex 1 adopts a mononuclear structure whereas 2 forms 1D coordination polymer. In the crystal structure of 1 the copper atom has a CuN2OCl environment with square planar geometry. In the coordination polymer of 2, there are two copper atoms with different geometries, octahedral (CuN2O4) and square-pyramidal (CuN2O3). In the crystal network of the complex 2, there are different types of the hydrogen bond motifs including R11(6), R11(8), R12(4), and R21(4). In addition to the hydrogen bonds there are π–π stacking interactions between phenyl rings. The charge distribution pattern of the complexes and their ligands was studied by NBO analysis and their ability to interact with ten biomacromolecules (BRAF kinase, CatB, DNA gyrase, HDAC7, rHA, RNR, TrxR, TS, Top II and B-DNA) is investigated by docking calculations and compared with that of doxorubicin.
Epidemiological characteristics of common respiratory pathogens in children
Authors: Lv Guojian , Shi Limei , Liu Yi , Sun Xuecheng , Mu Kai 
Published: January 2024

Abstract
Background:Children's respiratory tract infection is a common disease affecting children's health. Our aim is to describe the epidemiological characteristics of common pathogens of children's respiratory tract infection in outpatient clinics in central Shandong, China.
Methods: Sputum, tracheal aspirate, alveolar lavage fluid and other samples of 4804 children admitted to wards of Zibo Maternal and Child Health Hospital for treatment of respiratory tract infection from June 2019 to December 2022 were collected, and 12 common respiratory tract pathogens were detected by multiple PCR detection technology. Two bacteria (SP, HI), two atypical pathogens (MP, CP) and eight viruses (HRV, RSV, IVA, PIV, HMPV, HBOV, HCOV, IVB) were included. The proportion and positive detection rate of each type of respiratory tract mixed infection and the positive detection rate of single pathogen in different ages and seasons were statistically analyzed.
Results: (1) Among 4804 children with respiratory tract infection, the total positive rate was 77.87% (3741/4804). The positive rate was 34.47% (1656/4804). Streptococcus pneumoniae, rhinovirus and respiratory syncytial virus were the highest. There were 2085 cases of mixed infection with two or more pathogens, the positive rate was 43.40%. (2) The positive rates of infection in infant group (0-1 years old), infant group (1-3 years old), preschool group and school age group (3 years old -) were roughly the same. The infection rates of Streptococcus pneumoniae, respiratory syncytial virus and parainfluenza virus in infant group, rhinovirus in infant group, influenza A virus, chlamydia pneumoniae, mycoplasma pneumoniae and Haemophilus influenzae in school age group were higher than those in other groups. The difference was statistically significant (P<0.05). (3) The positive detection rates of spring, summer, autumn and winter groups were 43.58%, 38.64%, 33.73% and 29.27%, respectively. The positive rates of Streptococcus pneumoniae and Haemophilus influenzae in spring group, mycoplasma pneumoniae in summer group, rhinovirus, respiratory syncytial virus and influenza A virus in autumn group, chlamydia pneumoniae, Boca virus and influenza B virus in winter group were higher than those in other seasons, and the differences were statistically significant (P<0.05).
Conclusion：The pathogen detection rate of children varies with age and season, and the prevention and treatment of a certain respiratory pathogen infection must be combined with its raging season and age rule.
Drug-Related Problems and Clinical Pharmacist-Led Medication Therapy Management; Three-Year Survey in an Educational Pharmacotherapy Clinic
Authors: Valitabar Nastaran , Esmaily Hadi , Sistanizad Mohammad , Roshanzamiri Soheil , Farrokhian Amir , Mohammadnezhad Ghader 
Published: January 2024

Abstract
Objectives
Drug-related problems (DRPs) are adverse events or circumstances that interfere with favorable health outcomes. Medication therapy management (MTM) was developed to detect and manage DRP. This study set out to identify DRP-associated factors and reporting of subsequent interventions in a university-affiliated educational pharmacy.
Methods
This study was conducted from January 2020 to December 2022 at Shahid Kazemi Pharmacy, a large referral community pharmacy in Tehran, Iran. After medication review and complete medical history collection, DRPs were identified classified, and necessary interventions were performed. Medication adherence and satisfaction were evaluated before and 2–4 weeks after providing the MTM services.
Results
Within 1432 admissions, 838 patients were included and received 1116 interventions. Among the 1116 DRPs detected, the most common were drug information (27.4%), difficulty using dosage forms (26.3%), and any toxicity, allergic reaction, or adverse effects related to medications (12.8%). A significant association was detected between the number of DRPs and the age, the number of medications, and underlying chronic diseases (P < 0.05). Adjusting the age association of the number of medications and the number of underlying chronic diseases remained significant. The use of medications related to the alimentary tract and metabolism, medications affecting the blood and hematopoietic organs, medications affecting the cardiovascular system, antineoplastic and immunomodulatory medications, and medications affecting the nervous system were significantly associated with a higher risk for the occurrence of DRPs (P < 0.05).
Conclusions
Community pharmacy-led MTM services have a significant impact on DRP detection, management, medication adherence, and pharmacotherapy satisfaction.
Alterations in plasma lipid profile before and after surgical removal of soft tissue sarcoma
Authors: Lee Jae Hwa , Gwon Mi-Ri , Kim Jeung Il , Hwang Seung-young , Seong Sook Jin , Yoon Young-Ran , Kim Myungsoo , Kim Hyojeong 
Published: January 2024

Abstract

Background
Soft tissue sarcoma (STS) is a relatively rare malignancy, accounting for about 1% of all adult cancers. It is known to have more than 70 subtypes. Its rarity, coupled with its various subtypes, makes early diagnosis challenging. The current standard treatment for STS is surgical removal. To aid in identifying prognosis and pathogenesis, we utilized an untargeted metabolomic approach to profile the altered endogenous metabolites in pre-operative and post-operative plasma samples of STS patients.
Methods
We collected pre-operative and post-operative plasma samples from 24 patients with STS who underwent surgical removal of masses. Plasma metabolic profiling was conducted using ultra-high performance liquid chromatography-quadrupole time-of-flight/mass spectrometry. Out of the 24 patients, 11 experienced recurrences after the operations. Multivariate analysis and permutation tests were conducted to identify putative altered metabolites. Univariate receiver operator characteristic analysis was performed to evaluate their predictive performance.
Results
Thirty-nine putative metabolites were identified based on the orthogonal projections to latent structures-discriminant analysis, with 34 of them showing statistical significance. These metabolites included phospholipids and acyl-carnitines, indicating changes in lipid metabolism. Specifically, phospholipids exhibited an increase in the post-operative samples, while acyl-carnitines showed a decrease. Notably, lysophosphatidylcholine (LPC) O-18:0 and LPC-O16:2 demonstrated predictive capabilities for STS recurrence, with area under the curve values of 0.748 and 0.797, respectively.
Conclusions
Our investigation revealed distinct alterations in the lipid profiles of plasma in STS patients after surgical resection of masses. We anticipate that these findings can contribute to the elucidation of the pathophysiology of STS and the development of further metabolic studies in this rare malignancy.
UGT1A1 variants contribution to neonatal hyperbilirubinemia: evidence from whole exome sequencing Running title: UGT1A1 variants contribution to neonatal hyperbilirubinemia
Authors: Liao Yu-Wei , Lin Fen , Xu Jia-Xin , Yang Hui , Wu Yong-Hao , Chen Man-Tong , Ma Yu-Bin , Li Jian-Dong , Yang Li-Ye 
Published: January 2024

Abstract
Background
It is widely recognized that genetic variation is among the risk factors associated with neonatal jaundice. Therefore, the objective of this study was to assess the impact of genetic variants on Chinese neonates with hyperbilirubinemia.
Methods
This cohort consisted of 43 cases with normal bilirubin levels, 54 cases categorized as the medium jaundice group (total serum bilirubin less than 342 umol/L), and 33 cases belonging to the high jaundice group (total serum bilirubin exceeding 342 umol/L). Whole exome sequencing was performed on the neonates to identify genetic variations.
Results
UGT1A1-G71R, mixed feeding and breast feeding were significantly correlated with higher bilirubin value. Homozygous SNP of CAPN12, ECT2L, SLC9B2, PLEKHA4, and hemizygous G6PD were only found in jaundice group but not in control group. Consistent with the result of linear regression, feeding pattern and UGT1A1 G71R were all correlated with level of bilirubin in Fisher exact test (p = 7.81E-13, and p = 2.48E-07, respectively).
Conclusion
The UGT1A1 gene variants emerged as a prominent risk factor for neonatal jaundice, significantly contributing to elevated bilirubin levels in Chinese neonates, particularly in conjunction with breastfeeding.
Development and validation of inpatient mortality prediction models for patients with hyperglycemic crisis using machine learning approaches
Authors: He Rui , Zhang Kebiao , Li Hong , Gu Manping 
Published: January 2024

Abstract
Background：Hyperglycemic crisis is one of the most common complications of diabetes mellitus with a high motarlity rate. Emergency admissions for hyperglycemic crisis are still very common and challenging. The study aimed to develop and validate models for predicting the inpatient mortality risk of patients with hyperglycemic crisis admitted in emergency department using different machine learning(ML) methods.
Methods: We carried out a multi-center retrospective study within six large general adult hospitals in Chongqing, western China. Patients diagnosed with hyperglycemic crisis were included based on an electronic medical record (EMR) database. The patients’ medical records along with demographics, comorbidities, clinical characteristics, laboratory results, complications, and therapeutic measures were extracted to construct theprognostic prediction model. We applied seven machine learning algorithms (support vector machines (SVM), random forest (RF), recursive partitioning and regression trees (RPART), extreme gradient boosting with dart booster (XGBoost), multivariate adaptive regression splines (MARS), neural network (NNET), and adaptive boost (AdaBoost)) compared with logistic regression (LR) to predict the risk of in-hospital death in patients with hyperglycemic crisis. Stratified random sampling was used to split the data into training (80%) and validation (20%) sets. Ten-fold cross validation was performed in train to optimize model hyper-parameters. The sensitivity, specificity, positive and negative predictive values, area under the curve (AUC) and accuracy of all models were computed in order to compare them.
Results: A total of 1668 patients were eligible for the present study. The mortality rate during hospitalization was 7.3%(121/1668). In the training set, we calculated importance scores for each feature for eight models, and themost significant 10 features for all models were listed. In the validation set, all models showed good predictive capability with areas under the curve above 0.9 except the MARS model. Six machine learning algorithm models outperformed the referred logistic regression algorithm except the MARS model. RPART, RF, and SVM have better performance in the selected models (AUC values were 0.970, 0.968 and 0.968, respectively). Variable importance revealed newly detected predictors including mechanical ventilation, age, Charlson Comorbidity Index, blood gas index, first 24-hour insulin dosage, and first 24-hour fluid intake.
Conclusion: All machine learning algorithms performed well to predict inpatient mortality in patients with hyperglycemic crisis except the MARS model, and the best was RPART model. These algorithms identified overlapping but different, up to 10 predictors. These models identify high-risk patients early, can assist in clinical decision-making, and can improve the prognosis of hyperglycemic crisis patients to some extent.
A Novel Method Of Specific Adsorption Of Hazardous Hydrogen Sulfide Gas in Gas Processes By Core-Shell Hybrid Nano Adsorbent MIL-101(Cr)@MIPs@H2S
Authors: Moradirad Rohadin , Mahabadi Hassan Asilian , Shahtaheri Seyed Jamaleddin , Rashidi Alimorad , Fakhraie Saeed 
Published: January 2024

Abstract
Hydrogen sulfide gas is a challenge in the oil and gas industry due to its toxicity and corrosive nature. In addition to the toxicity of H2S, it is very corrosive both in gas and when dissolved. It is oxidized when oxidized in the combustion process, and the form of SO2 causes acid rain. Adsorption using MIL-101(Cr) @NIPs/MIPs@H2S adsorbents offers a promising solution with high efficiency, low cost, and low energy consumption. This study optimized the operating parameters for efficient and cost-effective adsorption of H2S gas. Thirty experiments were conducted to analyze the impact of the operating parameters of the adsorbent (0.1 to 1 g), temperature (25 to 80°C), concentration (10 to 1000 ppm), and flow rate (40 to 100 mL/min) on the process. The evaluation was carried out to determine cause-and-effect relationships between the variables above. The molar adsorption capacity of gases in a 400 mm high, 10 mm internal diameter fixed bed was determined using the central composite design method and the Soave-Redlich-Kwong equation. FTIR, XRD, FE-SEM, and BET techniques were then used to determine the physical properties. The statistical analysis of variance results indicated that the adsorbents adhere to the quadratic model, with temperature and adsorbent dose being the primary process variables. The optimum adsorption efficiency and capacity for MIL-101(Cr)@MIPs@H2S (11 mg/g = 94.3%) is higher than that of MIL-101(Cr)@NIPs@H2S (5.97 mg/g = 9.9%) and due to a better match between the template and binding sites in the template layer, which facilitates efficient template uptake and removal. The equilibrium adsorption of all Nano-adsorbents followed the pseudo-Scott order and Langmuir isotherm models. MIL-101(Cr) @MIPs@H2S proved to be a reliable and stable adsorbent for hydrogen sulfide. Its specific adsorption selectivity for H2S resulted in a significantly higher adsorption capacity than other gases in mixed CO2 and CH4.