bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy
Authors: Kaburagi Kei , Hagiwara Yuta , Tachikawa Keiji , Miyake Noriko , Akiyama Hisanao , Kawai Yosuke , Omae Yosuke , Tokunaga Katsushi , Yamano Yoshihisa , Shimizu Takahiro , Mitsuhashi Satomi 
Published: April 2024

Abstract
Background
Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left–right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy.

Case presentation
We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination. Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense variant (NM_018055.5: c.1016 T > C, p.(Met339Val)) in the NODAL gene, which is essential to the determination of the left–right body axis.

Conclusions
Our study highlights the importance of evaluating genetic etiology in young ischemic stroke and the need for stroke risk management in visceral heterotaxy patients with RLS. To the best of our knowledge, we report the first genetically-confirmed case of visceral heterotaxy with young embolic stroke reported to date.
Competent blastocyst and receptivity endometrium improved clinical pregnancy in fresh embryo transfer cycles: a retrospective cohort study
Authors: Wang Longmei , Qiu Pingping , Jiang Lizhi , Li Ping , Jiang Yufei 
Published: April 2024

Abstract
Background
Embryo quality is usually regarded as a key predictor of successful implantation and clinical pregnancy potential. The identification of embryos that have the capacity to implant and result in a healthy pregnancy is a crucial part of in vitro fertilization (IVF). Usually, morphologically high-quality embryos are chosen for embryo transfer in IVF treatment. The aim of this study was to assess the association between the available blastocyst formation rate and the clinical pregnancy outcome following the first fresh embryo transfer cycle and provide systematic individual treatment to adjust endometrial receptivity for the next transfer cycle.

Methods
This retrospective, single-center study included 512 fresh embryo transfers conducted between 11/2019 and 08/2021, which consisted of 385 cleavage-stage (Day 3) and 127 blastocyst-stage (Day 5) embryo transfers. The two groups were divided into a clinical pregnancy group and a nonclinical pregnancy group for comparison. The association between the available blastocyst formation rate and the clinical pregnancy rate in the Day 3 and Day 5 transfer groups were considered.

Results
In the Day 3 group, there were 275 clinical pregnancies, and the clinical pregnancy rate was 71.43%. Although the two pronuclei (2PN) oocyte rate and available embryo rate at Day 3 were significantly higher in the clinical pregnancy group than the nonclinical pregnancy group (P < 0.05), the blastocyst formation rate and the available blastocyst formation rate were not significantly different between the clinical pregnancy group and the nonclinical pregnancy group (P > 0.05). In the Day 5 group, there were 81 clinical pregnancies, and the clinical pregnancy rate was 63.78%. No baseline characteristics showed any obvious differences between the clinical pregnancy group and nonclinical pregnancy group (P > 0.05). The blastocyst formation rate in the nonclinical pregnancy group was higher than that in the clinical pregnancy group, but the difference was not statistically significant (81.06% vs. 77.03%, P = 0.083). Interestingly, the available blastocyst formation rate and the Day 5 available blastocyst formation rate were significantly higher in the nonclinical pregnancy group than the clinical pregnancy group (66.19% vs. 60.79%, P = 0.014; 54.58% vs. 46.98%, P = 0.007).

Conclusions
In fresh cycles, the available blastocyst formation rate was not associated with the clinical pregnancy outcome for Day 3 embryo transfers, and the available blastocyst formation rate was not positively correlated with the clinical pregnancy outcome for Day 5 embryo transfers.
Validity and reliability of the Turkish version of the transition of primiparas becoming mothers scale
Authors: Kirbaş Zila Özlem , Odabaşi Aktaş Elif , Özkan Hava 
Published: April 2024

Abstract
Background
The transition to motherhood is an important life event in a woman’s life and represents an important developmental process that brings physical, psychological and social changes to gain a new role. However, research on the transition to motherhood in Turkish society is scarce. There is a need for a comprehensive, practical and reliable tool to evaluate the transition to motherhood in primiparous mothers. This study evaluated the reliability and validity of the Turkish version of the Transition of Primiparous Becoming Mothers Scale (TMP-S) to evaluate the transition process of primiparous mothers to motherhood.

Methods
This methodological research was carried out in obstetrics and gynecology outpatient clinics, pediatric outpatient clinics, and family health centers of a hospital in Türkiye. The sample consisted of primiparous mothers of 0 to 6- month-old babies who visited clinics and family health centers for routine postnatal examinations (n ​​= 305). After evaluating the language equivalence and content validity of the scale, test-retest reliability, internal consistency and construct validity were examined. Factor analysis, Pearson’s correlation, retest reliability, and Cronbach’s alpha were employed to evaluate structural validity and reliability.

Results
The final TPM-S had two dimensions with 25 items. Exploratory factor analysis revealed a two-factor solution, which accounted for 59.276% of the variance. Confirmatory factor analysis showed that the model fit of the two-factor model also reached a satisfactory model ft after modification. The comparative fit index was 0.894, the Tucker‒Lewis index was 0.882, and the root mean square error of approximation was 0.079. The content validity index of the scale ranged from 0.56 ~ 0.77. The Cronbach’s alpha coefficient was 0.93 for the total scale, and the test–retest reliability was 0.96.

Conclusions
It is a valid and reliable tool for evaluating the transition to motherhood among primiparous mothers of 0 to 6 month-old babies in Türkiye. Turkish researchers and healthcare professionals can routinely apply this measurement tool to primiparous mothers in the first six months after birth to evaluate their transition to motherhood.
Advantage of whole-mount histopathology in prostate cancer: current applications and future prospects
Authors: Duan Lewei , Liu Zheng , Wan Fangning , Dai Bo 
Published: April 2024

Abstract
Background
Whole-mount histopathology (WMH) has been a powerful tool to investigate the characteristics of prostate cancer. However, the latest advancement of WMH was yet under summarization. In this review, we offer a comprehensive exposition of current research utilizing WMH in diagnosing and treating prostate cancer (PCa), and summarize the clinical advantages of WMH and outlines potential on future prospects.

Methods
An extensive PubMed search was conducted until February 26, 2023, with the search term “prostate”, “whole-mount”, “large format histology”, which was limited to the last 4 years. Publications included were restricted to those in English. Other papers were also cited to contribute a better understanding.

Results
WMH exhibits an enhanced legibility for pathologists, which improved the efficacy of pathologic examination and provide educational value. It simplifies the histopathological registration with medical images, which serves as a convincing reference standard for imaging indicator investigation and medical image-based artificial intelligence (AI). Additionally, WMH provides comprehensive histopathological information for tumor volume estimation, post-treatment evaluation, and provides direct pathological data for AI readers. It also offers complete spatial context for the location estimation of both intraprostatic and extraprostatic cancerous region.

Conclusions
WMH provides unique benefits in several aspects of clinical diagnosis and treatment of PCa. The utilization of WMH technique facilitates the development and refinement of various clinical technologies. We believe that WMH will play an important role in future clinical applications.
The application of different machine learning models based on PET/CT images and EGFR in predicting brain metastasis of adenocarcinoma of the lung
Authors: Kong Chao , Yin Xiaoyan , Zou Jingmin , Ma Changsheng , Liu Kai 
Published: April 2024

Abstract
Objective
To explore the value of six machine learning models based on PET/CT radiomics combined with EGFR in predicting brain metastases of lung adenocarcinoma.

Methods
Retrospectively collected 204 patients with lung adenocarcinoma who underwent PET/CT examination and EGFR gene detection before treatment from Cancer Hospital Affiliated to Shandong First Medical University in 2020. Using univariate analysis and multivariate logistic regression analysis to find the independent risk factors for brain metastasis. Based on PET/CT imaging combined with EGFR and PET metabolic indexes, established six machine learning models to predict brain metastases of lung adenocarcinoma. Finally, using ten-fold cross-validation to evaluate the predictive effectiveness.

Results
In univariate analysis, patients with N2-3, EGFR mutation-positive, LYM%≤20, and elevated tumor markers(P<0.05) were more likely to develop brain metastases. In multivariate Logistic regression analysis, PET metabolic indices revealed that SUVmax, SUVpeak, Volume, and TLG were risk factors for lung adenocarcinoma brain metastasis(P<0.05). The SVM model was the most efficient predictor of brain metastasis with an AUC of 0.82 (PET/CT group),0.70 (CT group),0.76 (PET group).

Conclusions
Radiomics combined with EGFR machine learning model as a new method have higher accuracy than EGFR mutation alone. SVM model is the most effective method for predicting brain metastases of lung adenocarcinoma, and the prediction efficiency of PET/CT group is better than PET group and CT group.
Cellular senescence and metabolic reprogramming model based on bulk/single-cell RNA sequencing reveals PTGER4 as a therapeutic target for ccRCC
Authors: Zhou Lijie , Zeng Youmiao , Liu Yuanhao , Du Kaixuan , Luo Yongbo , Dai Yiheng , Pan Wenbang , Zhang Lailai , Zhang Lei , Tian Fengyan , Gu Chaohui 
Published: April 2024

AbstractClear cell renal cell carcinoma (ccRCC) is the prevailing histological subtype of renal cell carcinoma and has unique metabolic reprogramming during its occurrence and development. Cell senescence is one of the newly identified tumor characteristics. However, there is a dearth of methodical and all-encompassing investigations regarding the correlation between the broad-ranging alterations in metabolic processes associated with aging and ccRCC. We utilized a range of analytical methodologies, such as protein‒protein interaction network analysis and least absolute shrinkage and selection operator (LASSO) regression analysis, to form and validate a risk score model known as the senescence-metabolism-related risk model (SeMRM). Our study demonstrated that SeMRM could more precisely predict the OS of ccRCC patients than the clinical prognostic markers in use. By utilizing two distinct datasets of ccRCC, ICGC-KIRC (the International Cancer Genome Consortium) and GSE29609, as well as a single-cell dataset (GSE156632) and real patient clinical information, and further confirmed the relationship between the senescence-metabolism-related risk score (SeMRS) and ccRCC patient progression. It is worth noting that patients who were classified into different subgroups based on the SeMRS exhibited notable variations in metabolic activity, immune microenvironment, immune cell type transformation, mutant landscape, and drug responsiveness. We also demonstrated that PTGER4, a key gene in SeMRM, regulated ccRCC cell proliferation, lipid levels and the cell cycle in vivo and in vitro. Together, the utilization of SeMRM has the potential to function as a dependable clinical characteristic to increase the accuracy of prognostic assessment for patients diagnosed with ccRCC, thereby facilitating the selection of suitable treatment strategies.
Delineating morbidity patterns in preterm infants at near-term age using a data-driven approach
Authors: Ciora Octavia-Andreea , Seegmüller Tanja , Fischer Johannes S. , Wirth Theresa , Häfner Friederike , Stoecklein Sophia , Flemmer Andreas W. , Förster Kai , Kindt Alida , Bassler Dirk , Poets Christian F. , Ahmidi Narges , Hilgendorff Anne 
Published: April 2024

Abstract
Background
Long-term survival after premature birth is significantly determined by development of morbidities, primarily affecting the cardio-respiratory or central nervous system. Existing studies are limited to pairwise morbidity associations, thereby lacking a holistic understanding of morbidity co-occurrence and respective risk profiles.

Methods
Our study, for the first time, aimed at delineating and characterizing morbidity profiles at near-term age and investigated the most prevalent morbidities in preterm infants: bronchopulmonary dysplasia (BPD), pulmonary hypertension (PH), mild cardiac defects, perinatal brain pathology and retinopathy of prematurity (ROP). For analysis, we employed two independent, prospective cohorts, comprising a total of 530 very preterm infants: AIRR (“Attention to Infants at Respiratory Risks”) and NEuroSIS (“Neonatal European Study of Inhaled Steroids”). Using a data-driven strategy, we successfully characterized morbidity profiles of preterm infants in a stepwise approach and (1) quantified pairwise morbidity correlations, (2) assessed the discriminatory power of BPD (complemented by imaging-based structural and functional lung phenotyping) in relation to these morbidities, (3) investigated collective co-occurrence patterns, and (4) identified infant subgroups who share similar morbidity profiles using machine learning techniques.

Results
First, we showed that, in line with pathophysiologic understanding, BPD and ROP have the highest pairwise correlation, followed by BPD and PH as well as BPD and mild cardiac defects. Second, we revealed that BPD exhibits only limited capacity in discriminating morbidity occurrence, despite its prevalence and clinical indication as a driver of comorbidities. Further, we demonstrated that structural and functional lung phenotyping did not exhibit higher association with morbidity severity than BPD. Lastly, we identified patient clusters that share similar morbidity patterns using machine learning in AIRR (n=6 clusters) and NEuroSIS (n=8 clusters).

Conclusions
By capturing correlations as well as more complex morbidity relations, we provided a comprehensive characterization of morbidity profiles at discharge, linked to shared disease pathophysiology. Future studies could benefit from identifying risk profiles to thereby develop personalized monitoring strategies.

Trial registration
AIRR: DRKS.de, DRKS00004600, 28/01/2013. NEuroSIS: ClinicalTrials.gov, NCT01035190, 18/12/2009.
Association between dietary selenium and zinc intake and risk of dilated cardiomyopathy in children: a case-control study
Authors: Aryafar Maryam , Mahdavi Mohammad , Shahzadi Hossein , Ranjbar Yeganeh Rajabpour , Sohouli Mohammad Hassan , Afzal Sina , Tehrani Asal Neshatbini , Fotros Danial , Daftari Ghazal 
Published: April 2024

Abstract
Background
Dilated cardiomyopathy (DCMP) is characterized by the enlargement and weakening of the heart and is a major cause of heart failure in children. Infection and nutritional deficiencies are culprits for DCMP. Zinc is an important nutrient for human health due to its anti-oxidant effect that protects cell against oxidative damage. This case-control study aimed to investigate the relationship between dietary intake of zinc and selenium and the risk of DCMP in pediatric patients.

Methods
A total of 36 DCMP patients and 72 matched controls were recruited, and their dietary intakes were assessed via a validated food frequency questionnaire. We used chi-square and sample T-test for qualitative and quantitative variables, respectively. Logistic regression analysis was applied to assess the relationship between selenium and zinc intake with the risk of DCMP.

Results
After fully adjusting for confounding factors, analyses showed that selenium (OR = 0.19, CI = 0.057–0.069, P trend < 0.011) and zinc (OR = 0.12, CI = 0.035–0.046, P trend < 0.002) intake were strongly associated with 81% and 88% lower risk of pediatric DCMP, respectively.

Conclusions
This study highlights the protective role of adequate dietary intake of selenium and zinc in decreasing the risk of DCMP in children. Malnutrition may exacerbate the condition and addressing these micronutrient deficiencies may improve the cardiac function. Further studies are recommended to detect the underlying mechanisms and dietary recommendations for DCMP prevention.
Effect of the COVID-19 pandemic on utilization of essential health services in Iran evidence from an interrupted time series analysis
Authors: Ranjbar Mohammad , Mousavi Seyed Masood , Madadizadeh Farzan , Dargani Nahid Hosseini , Iraji Samaneh , Angell Blake , Assefa Yibeltal 
Published: April 2024

Abstract
Background
The COVID-19 disrupted the provision of essential health services in numerous countries, potentially leading to outbreaks of deadly diseases. This study aims to investigate the effect of the COVID-19 pandemic on the utilization of essential health services in Iran.

Methods
An analytical cross-sectional study was conducted using interrupted time series (ITS) analysis. Data about five indicators, including 'childhood vaccination, infant care, hypertension screening, diabetes screening, and breast cancer screening,' were obtained from the electronic health record System in two-time intervals: 15 months before (November 2018 to January 2020) and 15 months after (January 2020 to May 2021) the onset of the COVID-19 pandemic. The data were analyzed by utilizing ITS. In addition, a Poisson model was employed due to the usage of count data. The Durbin-Watson (DW) test was used to identify the presence of lag-1 autocorrelation in the time series data. All statistical analysis was performed using R 4.3.1 software, considering a 5% significance level.

Results
The ITS analysis showed that the COVID-19 pandemic significantly affected the utilization of all essential health services (P < 0.0001). The utilization of hypertension screening (RR = 0.51, p < 0.001), diabetes screening (RR = 0.884, p < 0.001), breast cancer screening (RR = 0.435, p < 0.001), childhood vaccination (IRR = 0.947, p < 0.001), and infant care (RR = 1.666, p < 0.001), exhibited a significant decrease in the short term following the pandemic (P < 0.0001). However, the long-term trend for all service utilization, except breast cancer screening (IRR = 0.952, p < 0.001), demonstrated a significant increase.

Conclusions
The COVID-19 pandemic affected utilization of essential health care in Iran. It is imperative to utilize this evidence to develop policies that will be translated into targeted planning and implementation to sustain provision and utilization of essential health services during public health emergencies. It is also vital to raise awareness and public knowledge regarding the consequences of interruptions in essential health services. In addition, it is important to identify the supply- and demand-side factors contributing to these disruptions.
Change in general and domain-specific physical activity during the transition from primary to secondary education: a systematic review
Authors: Spruijtenburg Gwennyth E. , van Abswoude Femke , Adams Imke L. J. , Platvoet Sebastiaan W. J. , de Niet Mark , Steenbergen Bert 
Published: April 2024

Abstract
Background
Knowledge of changes in the domains of physical activity (PA) during the transition period from primary to secondary education and the factors associated with these changes, are prerequisites for the design of effective PA promotion strategies. Therefore, the first aim of this study was to systematically review changes in general, leisure-time, school, transport, work, and home PA across the transition from primary to secondary education. The second aim was to systematically review the individual, social, and physical environmental factors that were associated with these changes.

Methods
Records published up until September 2023 were retrieved from five electronic databases. We included longitudinal and cross-sectional studies that investigated general or domain-specific PA from 2 years before to 2 years after the transition from primary to secondary education. Information on source, study characteristics, sample characteristics, PA, and factors were extracted from the papers included. We reported the direction of change in general and domain-specific PA and the direction of association of the factors with change in general and domain-specific PA.

Results
Forty-eight papers were included in the study. The evidence on changes in PA and associated factors was greatest for general PA. A limited number of the studies investigated the separate domains of leisure-time, school, and transport. Most studies on general and school PA reported a decline in PA, but there were no consistent results for the domains of leisure-time and transport. With respect to the associated factors, evidence was predominantly found for individual factors and to a lesser degree for physical environmental and social environmental factors. None of the factors were consistently associated with changes in general or domain-specific PA during the school transition.

Conclusions
For the design of targeted PA promotion strategies, further studies are warranted to explore changes in the specific domains of PA across the transition from primary to secondary education, especially in the domains of leisure-time, transport, home, and work PA. In addition, the interactions between factors at different socioecological levels to influence changes in PA need to be addressed more in the future.

Trial registration
PROSPERO CRD42020190204.