bluuebunny/crossref_metadata_2025_split huggingface dataset:
Concomitant Braf V600e and Nras Q61r Mutations in the Same Thyroid Nodule : a Case Report
Authors: Brogna M. , Collina F. , Losito S. , Clery E. , Montone A. , DelSesto M. , Schiano M. Rosaria , LaSala L. , Ferrara G. 
Published: March 2024

Abstract
Papillary thyroid cancer(PTC) is the most common type of well differentiated endocrine malignancy Generally thyroid nodules with multiple oncogenic mutations are uncommon with an occurrence whic may be related to more aggressive biological behavior of tumors. (6).
RET/PTC rearrangement, RAS, and BRAF mutations are considered to be mutually exclusive in papillary thyroid carcinoma (PTC) (8). Concomitant RET/PTC, RAS, or BRAF mutations have been documented, although the impact of these mutations for tumor growth and survival is debated (6,7,8).
CASE PRESENTATION: Here we present a rare case of woman 46 years old with a neck mass and thyroid nodule classified as TIR5 on cytological examination.
We found contemporary BRAF p.(Val600Glu) (p. (V600E); c. 1799T>A) and NRAS p. (Gln61Arg) (p. (Q61R); c.182A>G) mutations in morphologically different areas within the same lobe (the right one); The two lesions show different morphology. The mutated BRAF lesion showed morphological characteristics compatible with classic papillary carcinoma; The mutant NRAS lesion shows morphological features compatible with follicular variant papillary carcinoma.
To the best of our knowlodges, this is the first time that such mutations, which are normally mutually exclusive, have been detected at the same time.
CONCLUSIONS: The finding of synchronous mutations is a rare occurrence suggesting for intratumoral heterogeneity (ITH) even in PTC.
Patients with multiple mutations have a clinical worse prognosis, generally characterized by an aggressive thyroid cancer, which may influence the surgical treatment, chemotherapy, and BRAFV600E mutation-targeting therapy.
Optimized Bionic Drug Delivery Inducing Immunogenic Cell Death and cGAS-STING Pathway Activation for Enhanced Photochemotherapy-Driven Immunotherapy in Prostate Cancer
Authors: Wu Chunchen , Feng Dexiang , Xu Hongbo , He Zhangxin , Hou Jianquan 
Published: March 2024

Abstract
Prostate cancer (PCa) presents a challenging disease as it is often characterized as an immunologically “cold” tumor, leading to suboptimal outcomes with current immunotherapeutic approaches in clinical settings. Photodynamic therapy (PDT) harnesses reactive oxygen species generated by photosensitizers (PSs) to disrupt intracellular redox equilibrium. This process induces DNA damage in both the mitochondria and nucleus, activating the process of immunogenic cell death (ICD) and cGAS-STING pathway. Ultimately, this cascade of events leads to the initiation of antitumor immune responses. Nevertheless, existing PSs face challenges, including suboptimal tumor targeting, aggregation-induced quenching, and insufficient oxygen levels in tumor regions. To this end, a versatile bionic nanoplatform (M-TPNPs), has been designed for the simultaneous delivery of the aggregation-induced emission PS TPAQ-Py-PF6 and paclitaxel (PTX). The cell membrane camouflage of the nanoplatform leads to its remarkable abilities in tumor targeting and cellular internalization. Upon laser irradiation, the utilization of TPAQ-Py-PF6 in conjunction with PTX showcases a notable and enhanced synergistic antitumor impact. Additionally, the nanoplatform has the capability to initiate the cGAS-STING pathway, leading to the generation of cytokines. The presence of damage-associated molecular patterns (DAMPs) induces ICD and collaborates with these aforementioned cytokines, leading to the recruitment and facilitation of dendritic cells (DCs) maturation. Consequently, this elicits a systemic immune response against tumors. In summary, this promising strategy highlights the use of a multifunctional biomimetic nanoplatform, combining chemotherapy, PDT, and immunotherapy to enhance the effectiveness of anti-tumor treatment.
Envisioning post pandemic digital social medical aftercare – opportunities and challenges
Authors: Albayrak Bilge , Reimann Margarete , Felderhoff-Mueser Ursula , Podeswik Andreas , Huening Britta Maria , Cordier Larissa Jane 
Published: March 2024

Abstract
Introduction: Socio-medical aftercare (SMN) is a service in Germany for chronically or severely ill children to facilitate transition from hospital to home. A multi-disciplinary team supports the families to organize and coordinate therapies and follow-up care with the goal to shorten hospital stay, ensure success of treatment, and improve self-efficacy and performance. Video consultations (VC) could help overcome challenges in structurally weak regions, complex illnesses, and language barriers.
Objective: 1) To assess the feasibility of this method and the satisfaction of families, we conducted standardized interviews after VC and home visits. 2.) To discuss additional areas where VC can be used to provide future-oriented care for these families.
Methods: A standardized interview with 21 questions using a 7-point Likert scale was applied to evaluate feasibility and parent satisfaction of SMN via VC. VC were conducted using a certified with end-to-end encryption.
Results: A total of 138 interviews with parents were conducted between March 2020 and February 2021 and compared (99 after VC and 39 after in-person consultations). There were no significant differences found between the VC and in-person home visit groups in terms of confidentiality, feasibility, and discussion of private and sensitive information. During home visits, parents reported that their child was more comfortable and that they better understood the instructions and explanations regarding their child's development. They were also more satisfied with the home visit and expressed a greater likelihood of requiring a future home visit.
Conclusions: Parents' acceptance and positive evaluations of the confidentiality of video-consultations offers the possibility of using them beyond the pandemic. However, home visits were preferred. Nevertheless, video consultations can expand the possibilities of SMN and can be a cost- and time-effective tool to reach out to families and their children who require support even in complex situations.
Assessing the impact of both Preimplantation Genetic Testing for Aneuploidy with blastocyst morphologic grade on live birth rates in frozen embryo transfers from fresh and frozen donor oocytes
Authors: Dennis Alyson , Jain Nirali , Clarke Emily Auran , Blakemore Jennifer 
Published: March 2024

Abstract

Purpose: To evaluate the live birth rate (LBR) following donor frozen embryo transfer (dFET) of preimplantation genetic testing for aneuploidy (PGT-A) versus untested donor embryos, stratified by blastocyst morphologic grade (MG).
Methods: This was a retrospective cohort study of 146 patients undergoing dFET of a single euploid blastocyst from fresh or frozen oocytes using PGT-A compared to age-matched controls (1:1 ratio) who did not use PGT-A.
Primary outcome was LBR. LBR was compared amongst cohorts, with further stratification by 1) high/low MG and 2) fresh/frozen oocyte status. Secondary outcomes included perinatal outcomes.
Result(s): Median age in both groups was 44.5 years (p=0.98).
LBR was similar amongst the two cohorts (PGT-A: 57.5% vs. Untested: 50.0%, p=0.20). There was similar LBR in fresh (PGT-A: 59.2% vs. Untested: 50.0%, p=0.20) and frozen (PGT-A: 47.6% vs. Untested: 50.0%, p=0.85) oocyte subgroups.
When stratified by MG, we appreciated similar LBR amongst high qualityblastocysts (PGT-A-High: 56.5% vs. Untested-High: 52.3%, p=0.49) amongst the whole cohort, as well as in fresh (Fresh-PGT-A-High: 58.3% vs. Fresh-Untested-High: 52.9%, p=0.46) and frozen (Frozen-PGT-A-High: 44.4% vs. Frozen-Untested-High: 51.7%, p=0.59) subgroups.
Similarly, we appreciated no difference in LBR amongst low quality blastocysts (PGT-A-Low: 75.0% vs. Untested-Low: 31.2%, p=0.08) amongst the whole cohort, as well as in the fresh (Fresh-PGT-A-Low: 80.0% vs. Fresh-Untested-Low: 16.1%, p=0.08) or frozen(Frozen-PGT-A-Low: 66.7% vs. Frozen-Untested-Low: 40.0%, p=0.56) subgroups.
Gestational age (37.8 weeks, p=1.0) and infant birth weight (PGT-A: 3128.0 grams vs. Untested: 3150.2 grams, p=0.60) were similar.
Conclusion(s): PGT-A did not improve LBR regardless of blastocyst quality from fresh and previously frozen donor oocytes.
Prevalence And Factor Associated of Sleep disturbance Community-Dwelling Older Adults in Indonesia
Authors: Andas Amzal , Wada Fauziah H , Puspitasari Indah , Shoaliha Marathun , Purnamasari Anisa , Andas Netty Huzniati 
Published: March 2024

Abstract

Background: The global population is undergoing a shift in age structure due to increased life expectancy and declining birth rates, particularly in the elderly demographic. The elderly population in Indonesia, specifically in Bekasi District, has experienced a significant rise. Sleep disorders among the elderly have become a serious concern, especially given the escalating risks of degenerative and non-communicable diseases associated with sleep quality. This research focuses on four sub-districts in Bekasi District, aiming to assess the prevalence of sleep disorders among the elderly.
Method: This study employs a quantitative approach with a descriptive analytical design. Stratified Random Sampling technique was utilized to select samples from the elderly population aged 55-90 years in Bekasi District. The Sleep Quality Scale (SQS) was employed as an instrument to measure respondents' sleep disorders. Data analysis involved the use of the Chi-Square test to evaluate the relationship between demographic characteristics, medical history, and the level of sleep disorders.
Results: The study revealed that out of 200 elderly respondents, 75% experienced sleep disorders at a moderate level, 13% at a poor level, and 0.5% at a very poor level. Age, gender, hypertension, diabetes, smoking history, and caffeine consumption were significantly associated with the level of sleep disorders. These factors emerged as independent predictors of sleep disorders in the elderly.
Conclusion: The prevalence of sleep disorders among the elderly in Bekasi District is relatively high. Factors such as age, gender, medical history, and lifestyle behaviors significantly contribute to the level of sleep disorders. Comprehensive prevention and intervention efforts are needed to enhance the sleep quality of the elderly and prevent potential complications arising from sleep disorders.
The psychological impact of the fear index and the spillover effect of fluctuations during the covid-19 epidemic crisis on the stock market using the panel var approach
Authors: gachi vahid 
Published: March 2024

Abstract
The COVID-19 pandemic has turned a health crisis into an economic one, causing stock market fluctuations and affecting macroeconomic indicators in various nations. The behavioral finance field elucidates that investment choices are influenced by "Investor Sentiment," subsequently impacting the valuation of diverse asset classes. Consequently, this study aims to examine the psychological repercussions of the fear index during the initial COVID-19 pandemic outbreak on stock markets in fifteen countries, categorized as either developed or developing. This examination spans two distinct time frames and facilitates a comparative analysis. Empirical findings reveal that during the first surge of the pandemic, the daily influx of new COVID-19 cases globally disrupted investor sentiment, leading to an unprecedented negative return in the market. The market's resilience and the transmission of epidemic-induced fluctuations were notably more conspicuous during the first wave of the pandemic compared to the second. Moreover, the volatility index reached its highest point for the first time after the global financial crisis. This significant upswing in the volatility index highlights the substantially increased demand for put options as a safeguard against the uncertainties caused by the pandemic. Conversely, during the second wave, the results show a noticeable divergence from the first wave, indicating different market trends.
JEL code: I10, I12, I18, G01, G41
Detection and Haplotype Construction of ring Chromosome 17 for Carrier Screening in Preimplantation Genetic Testing
Authors: Zhang Zhiqiang , Gu Mengnan , Huang Yijuan , Ding Taoli , He Shujing , Xu Linan , Li Xiaolan , Xu Ruixia , Kong Lingyin , Zeng Haitao , Ren Zi 
Published: March 2024

Abstract
Background: While preimplantation genetic testing (PGT) carrier screening has proven efficacious in improving assisted reproduction outcomes for individuals with balanced translocations and chromosome inversions, the accurate identification of embryos carrying ring chromosomes remains a substantial challenge, undermining the efficacy of PGT. This study aims to address this gap by pioneering an advanced proband-independent haplotyping technology based on Linked-Read Sequencing technology designed to overcome the limitations of traditional molecular approaches.
Results: Our integrated approach resulted in the identification of an 804 kb copy number variation (CNV) deficiency in the 17q25.3 region by CMA. Pacbio HiFi and Nanopore sequencing techniques refined breakpoint characterization, confirming telomere fusion events in chromosome 17, validated by FISH analysis. Linked-Read Sequencing technology played a pivotal role in precisely detecting CNV breakpoints and confirming end-to-end connections on chromosome 17 by linked reads. This critical insight supported the construction of a specific ring chromosome 17 haplotype for Preimplantation Genetic Testing (PGT) applications.
Conclusions: This study represents a significant advancement in accurately identifying carriers of ring chromosomes and elucidating their impact on Preimplantation Genetic Testing (PGT). Our results underscore the efficacy of Linked-Read Sequencing as a robust and superior method for detecting and precisely localizing ring chromosome breakpoints, offering relatively longer DNA sequences compared to both PacBio and Nanopore technologies. Through the integration of exact breakpoint identification with haplotype linkage analysis, we were able to distinguish embryos carrying ring chromosomes from those with normal karyotypes effectively. This approach is particularly vital for chromosomes with telomeric region fusion, facilitating the construction of distinct haplotypes for affected and unaffected embryos. The methodological advancements achieved in this research significantly enhance the capabilities of PGT, marking a pivotal contribution to genetic diagnostics.
Synthesis and Properties of Functional Polycarbonate Polyurethane Networks Based on Star-shaped Polycarbonate Polyols
Authors: Liu jie , Miao pengcheng , Leng xuefei , Che Jian , Ren zifei , Li yang 
Published: March 2024

Abstract
While much research has been developed on polycarbonate polyurethanes (PCUs) based on trimethylene carbonate, there is a dearth of effort in functional PCU networks. In this study, we attempted to introduce a class benzene ring functional cyclic carbonate monomer to prepare PCUs with self-healing, reprocessable, and excellent mechanical properties. Firstly, we prepared functional hydroxyl-terminated 3-arm star-shaped polycarbonate polyols by ring-opening polymerization, in which the molar ratios of trimethylene carbonate (TMC) and cyclic carbonate (PTO) were varied. Then, the PCU networks were prepared from polycarbonate polyols and hexamethylene diisocyanate, with stannous octoate (Sn(Oct)2) as the catalyst. All PCUs were then subjected to DSC, DMA, and uniaxial tensile testing. The results exhibited that the values of Tg and tensile strength increased with increasing the content of PTO. When the molar content of PTO reaches 25%, the tensile strength of the material is 19.6 MPa, which is a significant increase of 227% compared to the PTMC without adding PTO monomer. Under the influence of catalyst, the urethane bonds exchange within PCUs enables effective self-healing properties and reprocessability. This study offers a feasibility assessment for the design of a functional PCU material with excellent properties.
Correlation between medical coping style and mindfulness level of hospitalized elderly
Authors: YANG KUN , BAI JINWEN , ALISWAG EMERSON GALANG , SONG JIAN 
Published: March 2024

Abstract

Background
The mindfulness level of hospitalized elderly is affected by various individual factors. However, little is known regarding the relationship between medical coping styles and mindfulness levels of hospitalized elderly. The aims of this study were to examine the relationship between medical coping style and the mindfulness level of the hospitalized elderly and provide a theoretical basis for improving the mindfulness level of the hospitalized elderly.
Methods
A survey of 253 elderly patients was conducted in the Department of Geriatrics of a 3A hospital in Tangshan from September to November 2022 using the General Questionnaire, Medical Coping Style Questionnaire (MCMQ), and Mindfulness-Attention Awareness Scale (MAAS).
Results
The average mindfulness level score of the hospitalized elderly was (59.71 ± 13.90), with a scoring rate of 66.34%, at a moderate mindfulness level. This study results revealed a positive correlation between confrontation coping and the average score of mindfulness level (r = 0.725, P < 0.05); a negative correlation between avoidance coping and the average score of mindfulness level (r = -0.604, P < 0.05); and a negative correlation between acceptance-resignation coping and the average score of mindfulness level (r = -0.800, P < 0.05).
Conclusion
The mindfulness level of the hospitalized elderly must be improved, their coping styles are closely related to their mindfulness level, and positive coping styles can help improve the mindfulness level of the hospitalized elderly. This study suggested that medical staff can formulate targeted intervention measures, guide patients to establish positive coping styles, and improve the mindfulness level of hospitalized elderly people.
ABLE-SCORE, a simplified risk score for major adverse cardiovascular outcomes in left ventricular noncompaction: a multicenter longitudinal cohort study
Authors: Liu Limin , Zeng Rui , Ding Ligang , Cai Simin , Chen Aiyue , Dong Yuchen , Zhou Likun , Xu Mengtong , Xu Yuanwei , Li Le , Zhang Zhenhao , Hu Zhao , Zhang Zhuxin , Xiong Yulong , Hu Zhicheng , Li Yongqing , Lu Minjie , Wu Lingmin , Zheng Lihui , Fan Xiaohan , Li Tan , Yao Yan 
Published: March 2024

Abstract

Background
Left ventricular noncompaction (LVNC) is a heterogeneous entity with life-threatening complications and variable prognosis. However, there are limited prediction models available to identify individuals at high risk of adverse outcomes, and the current risk score in LVNC is comparatively complex for clinical practice. This study aimed to develop and validate a simplified risk score to predict major adverse cardiovascular events (MACE) in LVNC.
Methods
This multicenter longitudinal cohort study consecutively enrolled morphologically diagnosed LVNC patients between January 2009 and December 2020 at Fuwai Hospital (derivation cohort n = 300; internal validation cohort n = 129), and between January 2014 and December 2022 at two national-level medical centers (external validation cohort n = 95). The derivation/internal validation cohorts and the external validation cohort were followed annually until December 2022 and December 2023, respectively. MACE was defined as a composite of all-cause mortality, heart transplantation/left ventricular assist device implantation, cardiac resynchronization therapy, malignant ventricular arrhythmia, and thromboembolism. A simplified risk score, the ABLE-SCORE, was developed based on independent risk factors in the multivariable Cox regression predictive model for MACE, and underwent both internal and external validations to confirm its discrimination, calibration, and clinical applicability.
Results
A total of 524 LVNC patients (43.5 ± 16.6 years, 65.8% male) were included in the study. The ABLE-SCORE was established using four easily accessible clinical variables: age at diagnosis, N-terminal pro-brain natriuretic peptide levels, left atrium enlargement and left ventricular ejection fraction ≤ 40% measured by echocardiography. The risk score showed excellent performance in discrimination, with Harrell’s C-index of 0.821 [95% confidence interval (CI), 0.772–0.869], 0.786 (95%CI, 0.703–0.869), and 0.750 (95%CI, 0.644–0.856) in the derivation, internal validation, and external validation cohort, respectively. Calibration plots of the three datasets suggested accurate agreement between the predicted and observed 5-year risk of MACE in LVNC. According to decision curve analysis, the ABLE-SCORE displayed greater net benefits than the existing risk score for LVNC, indicating its strength in clinical applicability.
Conclusions
A simplified and efficient risk score for MACE was developed and validated using a large LVNC cohort, making it a reliable and convenient tool for the risk stratification and clinical management of patients with LVNC.
Telomere-related gene risk model for prognosis and drug treatment efficiency prediction in esophageal carcinoma
Authors: Chen Shihui , Li Xiaopeng , Ye Changchun , Zhao Chenye , Dong Zepeng , Yuan Hang , Gu Shuyuan , Sun Xuejun , Zhao Wei 
Published: March 2024

Abstract
Background
As the telomere functions continued to be unraveled, we aim to develop a prognostic gene signature that telomere-related features for patients with esophageal carcinoma.
Methods
First, differentially expressed genes (DEGs) related to telomere in ESCA were detected, Based on telomere-related DEGs, variables were determined by the LASSO regression and multivariate Cox, and a prognostic signature was established. The prognostic value of the signature was evaluated by the Kaplan–Meier method, time-dependent ROC, and univariate and multivariate analyses. Independent GEO dataset were employed for external validation. Gene set enrichment analysis (GSEA), gene set variation analysis (GSVA), and immune infiltration analysis were performed to investigate the underlying mechanisms. The sensitivity to common chemotherapeutic drugs was estimated based on the GDSC2 database. Finally, we selected MAPK12 involved in the signature, which has not been reported in ESCA, for further experimental validation.
Results
ESCA patients with differentially expressed genes (DEGs) related to telomere exhibited related GO and KEGG terms. The prognostic signature incorporated 3 genes and stratified patients into high- and low-risk groups by median value splitting. The areas under the ROC curves were 0.75 (1-year), 0.75 (3-year) and 0.69 (5-year). The Kaplan–Meier survival analysis revealed a significantly poorer overall survival in the high-risk group in the TCGA cohort (p < 0.001). In addition, both univariate and multivariate Cox regression analyses indicated that the prognostic model was the individual factor affecting the overall survival of ESCA patients. Through GSEA and GSVA, we found that tumor progression and metastasis-related pathways were enriched in the high-risk group. Additionally, patients with high-risk scores showed higher sensitivity to chemotherapeutic drugs. The in vitro experiments further confirmed that MAPK12 could promote the proliferation and migration of ESCA cells.
Conclusions
We first developed and validated a new signature that incorporates genes that relate to telomeres in ESCA patients. Our study explored the potential clinical significance of this biomarker. Our prognostic model is capable of independently predicting survival of ESCA patients, as demonstrated by the high-throughput data mining results. The theoretical basis provided by these results can be used to further explore the molecular pathogenesis of ESCA and identify therapeutic approaches.