bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of immune-related molecular markers in intracranial aneurysm (IA) based on machine learning and cytoscape-cytohubba plug-in
Authors: Ma Zhengfei , Zhong Ping , Yue Peidong , Sun Zhongwu 
Published: April 2023

Abstract
Background
Intracranial aneurysm (IA) is a common cerebrovascular disease. The immune mechanism of IA is more complicated, and it is unclear so far. Therefore, it is necessary to continue to explore the immune related molecular mechanism of IA.

Methods
All data were downloaded from the public database. Limma package and ssGSEA algorithm was used to identify differentially expressed mRNAs (DEmRNAs) and analyze immune cell infiltration, respectively. Machine learning and cytoscape-cytohubba plug-in was used to identify key immune types and multicentric DEmRNAs of IA, respectively. Multicentric DEmRNAs related to key immune cells were screened out as key DEmRNAs by Spearman correlation analysis. Diagnostic models, competing endogenous RNA (ceRNA) regulatory network and transcription factor regulatory network were constructed based on key DEmRNAs. Meanwhile, drugs related to key DEmRNAs were screened out based on DGIdb database. The expression of key DEmRNAs was also verified by real time-PCR.

Results
In this study, 7 key DEmRNAs (NRXN1, GRIA2, SLC1A2, SLC17A7, IL6, VEGFA and SYP) associated with key differential immune cell infiltration (CD56bright natural killer cell, Immature B cell and Type 1 T helper cell) were identified. Functional enrichment analysis showed that VEGFA and IL6 may be involved in the regulation of the PI3K-Akt signaling pathway. Moreover, IL6 was also found to be enriched in cytokine-cytokine receptor interaction signaling pathway. In the ceRNA regulatory network, a large number of miRNAs and lncRNAs were found. In the transcription factor regulatory network, the transcription factor SP1 was correlated with VEGFA, SYP and IL6. It is also predicted that drugs related to key DEmRNAs such as CARBOPLATIN, FENTANYL and CILOSTAZOL may contribute to the treatment of IA. In addition, it was also found that SVM and RF models based on key DEmRNAs may be potential markers for diagnosing IA and unruptured intracranial aneurysm (UIA), respectively. The expression trend of key DEmRNAs verified by real-time PCR was consistent with the bioinformatics analysis results.

Conclusion
The identification of molecules and pathways in this study provides a theoretical basis for understanding the immune related molecular mechanism of IA. Meanwhile, the drug prediction and diagnosis model construction may also be helpful for clinical diagnosis and management.
‘Family court…sucks out your soul’: Australian general practitioners’ experiences supporting domestic violence survivors through family court
Authors: Kuruppu Jacqueline , Novy Kitty , Fetter Lily , Oo Sanda , Hegarty Kelsey 
Published: April 2023

Abstract
Background
Domestic violence is a significant public health issue with survivors experiencing short- and long-term physical, sexual and psychological health issues. Given this, survivors of domestic violence use healthcare services at an increased rate compared to the general population. Therefore, general practitioners (GPs) are well placed to support survivors of domestic violence. However, many practitioners do not feel ready to address this complex issue of domestic violence. Further, there is no research exploring GPs’ role in supporting families through family court in the context of domestic violence.

Methods
This study used qualitative methods. Fifteen GPs participated in individual in-depth interviews. The interviews were audio recorded with consent, transcribed verbatim and thematically analysed.

Results
The majority of participants were female GPs working in metropolitan settings. Four themes were generated from the data: on different planets, witnessing legal systems abuse, weaponizing mental health in family court and swinging allegiances. Participants had negative perceptions of family court and felt that it operated on a different paradigm to that of general practice which caused difficulties when supporting patients. Participants supported survivors through instances where the court was used by perpetrators to further their abusive behaviour or where the court acted abusively against survivors. In particular, perpetrators and the family court used survivors’ mental health against them in court proceedings, which resulted in survivors being reluctant to receive treatment for their mental health. Participants struggled with their allegiances within their patient family and usually opted to support either the mother, the father, or the children.

Conclusions
Implications of these findings for GP training are evident, including curriculum that discusses the intersection of mental health diagnoses and legal proceedings. There may also be a place for health justice partnerships within general practice.
Dietary fiber intake and risk of gallstone: a case–control study
Authors: Tehrani Asal Neshatbini , Saadati Saeede , Yari Zahra , Salehpour Amin , Sadeghi Amir , Daftari Ghazal , Ghorbani Moloud , Hekmatdoost Azita 
Published: April 2023

Abstract
Background
Gallstone disease (GSD) and its complications are major public health issues globally. Although many community-based studies had addressed the risk factors for GSD, little is known about the associations between dietary factors and risk of disease. The present study aimed to investigate the potential associations between dietary fibers with the risk of gallstone disease.

Methods
In this case–control study, 189 GSD patients with less than one month of diagnosis and 342 age‑matched controls were enrolled. Dietary intakes were assessed using a 168-item semi-quantitative validated food frequency questionnaire. Crude and multivariable-adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated through cox proportional hazards regression models.

Results
Comparing the highest versus the lowest tertile, significant reverse associations were observed between odds of GSD and each category of dietary fiber intake including total (OR T3 vs. T1 = 0.44, 95% CI: 0.37–0.7, P for trend = 0.015), soluble (OR T3 vs. T1 = 0.51, 95% CI: 0.3–0.8, P for trend = 0.048) and insoluble (OR T3 vs. T1 = 0.56, 95% CI: 0.3–0.9, P for trend < 0.001). The relationship between dietary fiber intake and the risk of gallstones was more prominent in overweight and obese subjects than in subjects with a normal body mass index.

Conclusion
Comprehensive assessment of the associations of dietary fiber intake with GSD showed that higher intakes of dietary fiber were significantly associated with reduced GSD risk.
Reduction of venous air embolism in coronary computed tomography angiography using a modified method of saline test injection
Authors: He Weiling , Huang Feng , Xie An , Chen Xiang , Sun Wenjie , Hu Rui 
Published: April 2023

Abstract
Objectives
This paper analyzed the feasibility of reducing venous air emboli introduced during tube connection in computed tomography angiography (CTA) through a modified method of saline test injection.

Methods
A total of 386 cases of patients undergoing coronary CTA examination were randomly arranged into a control group (199 patients underwent conventional saline injection before the CTA examination) and a case group (187 patients underwent modified saline injection before the CTA examination). The two groups were compared for the location (Fisher’s exact test), number (χ2 test), and diameter (Mann-Whitney rank sum test) of the air emboli along the inflow direction of contrast agent within the scan.

Results
The occurrence rate was 10.55% in the control group and 3.74% in the case group respectively, with a statistically different significance (P = 0.010). In the case group, there were 7 cases of small-grade venous air emboli. In the control group, there were 15 cases of small-grade venous air emboli and 6 cases of moderate-grade venous air emboli. No cases of large-grade venous air emboli were found in both groups.

Conclusions
The use of this modified method of saline test injection before CTA examination is able to effectively decrease the occurrence of venous air emboli introduced during tube connection, which has some certain practical significance.
Association of progesterone receptor status with 21-gene recurrence score and survival among patients with estrogen receptor-positive breast cancer
Authors: Ma Sung Jun , Gill Jasmin , Yendamuri Keerti , Chatterjee Udit , Waldman Olivia , Dunne-Jaffe Cynthia , Fekrmandi Fatemeh , Shekher Rohil , Iovoli Austin , Yao Song , Oladeru Oluwadamilola T. , Singh Anurag K. 
Published: April 2023

Abstract
Background
Progesterone receptor (PR)-negative tumors have been shown to have worse prognosis and were underrepresented in recent trials on patients with estrogen receptor (ER)-positive breast cancer. The role of PR-negative status in the context of 21-gene recurrence score (RS) and nodal staging remains unclear.

Methods
The National Cancer Database (NCDB) was queried for women diagnosed between 2010 and 2017 with ER-positive, human epidermal growth factor receptor 2 (HER2)-negative, pT1-3N0-1a breast cancer. Logistic and Cox multivariable analyses (MVA) were performed to identify association of PR status with high RS (> 25) and overall survival (OS), respectively.

Results
Among 143,828 women, 130,349 (90.6%) and 13,479 (9.4%) patients had PR-positive and PR-negative tumors, respectively. Logistic MVA showed that PR-negative status was associated with higher RS (> 25: aOR 16.15, 95% CI 15.23–17.13). Cox MVA showed that PR-negative status was associated with worse OS (adjusted hazards ratio [aHR] 1.20, 95% CI 1.10–1.31). There was an interaction with nodal staging and chemotherapy (p = 0.049). Subgroup analyses using Cox MVA showed the magnitude of the chemotherapy benefit was greater among those with pN1a, PR-negative tumors than pN1a, PR-positive tumors (PR-positive: aHR 0.57, 95% CI 0.47–0.67; PR-negative: aHR 0.31, 95% CI 0.20–0.47). It was comparable among those with pN0 tumors regardless of PR status (PR-positive: aHR 0.74, 95% CI 0.66–0.82; PR-negative: aHR 0.63, 95% CI 0.51–0.77).

Conclusion
PR-negative tumors were independently correlated with higher RS and were associated with greater OS benefits from chemotherapy for pN1a tumors, but not pN0 tumors.
Differential characteristics among asymptomatic and symptomatic meibomian gland dysfunction and those with dry eye
Authors: Chiou Yi-Ran , Lin Pei-Yu , Chou Yu-Bai , Huang Po-Wei , Fan Nai-Wen 
Published: April 2023

Abstract
Purpose
To identify the characteristics of asymptomatic meibomian gland dysfunction (MGD), symptomatic MGD, and MGD coexisting with dry eye disease (DED).

Methods
This cross sectional study enrolled a total of 153 eyes of 87 MGD patients. Participants filled in ocular surface disease index (OSDI) questionnaires. Age, gender, Schirmer’s test, meibomian gland (MG) related parameters, lipid layer thickness (LLT) and blinking were compared among patients with asymptomatic MGD, symptomatic MGD, and MGD with DED. Multivariate regression was used to analyze the significant factor of DED in MGD. Spearman’s rank correlation analysis was used to evaluate the association between the significant factors and MG function.

Results
There was no difference in age, Schirmer’s test, lid changes, MG secretion, and MG morphology among three groups. The OSDI of asymptomatic MGD, symptomatic MGD and MGD coexisting with DED were 8.5 ± 2.9, 28.5 ± 12.8 and 27.9 ± 10.5, respectively. Patients with MGD coexisting with DED exhibited more frequent eye blinking than that of patients with asymptomatic MGD (8.1 ± 4.1 vs. 6.1 ± 3.5 blinks/20 sec, P = 0.022), and reduced LLT than that of patients with asymptomatic MGD (68.6 ± 17.2 vs. 77.6 ± 14.5 nm, P = 0.010) and symptomatic MGD (78.0 ± 17.1 nm, P = 0.015). Multivariate analysis identified LLT (per nm, OR = 0.96, 95% CI = 0.93—0.99, P = 0.002) as a significant factor associated with DED development in MGD. The number of expressible MG was positively correlated with LLT (Spearman’s correlation coefficient = 0.299, P = 0.016) but negatively correlated with the number of blinking (Spearman’s correlation coefficient = -0.298, P = 0.016) in MGD patients with DED, and these findings were not identified in those without DED.

Conclusions
Asymptomatic MGD, symptomatic MGD, and MGD coexisting with DED share similar characteristics, including meibum secretion and morphology, but MGD patients coexisting with DED exhibited significantly reduced LLT.
Evaluation of retinal microvasculature in exotropia with abnormal binocular vision by optical coherence tomography angiography
Authors: Chen Chun-Wen , Qin-Zhu  , Ma Chun-Hui , Yao Jing-Yan 
Published: April 2023

Abstract
Background
To explore the retinal microvasculature in large-angle concomitant exotropia patients with abnormal binocular vision using optical coherence tomography angiography (OCTA) analysis.

Methods
OCTA images of 52 healthy and 100 strabismic eyes were analyzed to quantify the retinal thickness (RT), superficial capillary plexus (SCP), deep capillary plexus (DCP), and foveal avascular zone (FAZ). Paired t-tests were performed to compare differences between the two groups, the dominant eye and the deviated eye in the exotropia group, respectively. A p-value < 0.01 was considered significant.

Results
The mean angle of deviation was 79.38 [± 25.64] (prism diopters, PD). There were significant differences in the DCP in deviated eyes between the exotropia group and the control group (fovea: p = 0.007; temporal: p = 0.014; nasal: p = 0.028; inferior: p = 0.013). The temporal SCP in the exotropia group was significantly higher than in the control group in deviated eyes (p = 0.020). No significant difference was found between dominant eyes and strabismic eyes (p > 0.01).

Conclusions
The study showed that OCTA revealed subnormal DCP in patients with large-angle exotropia and abnormal binocularity which may be related to retinal suppression. Changes in the macular microvasculature may provide valuable insights into the development of strabismus. Further studies are needed to determine the clinical relevance of this finding.

Trial registration
This trial is registered as ChiCTR2100052577 at www.Chictr.org.cn.
Is myopia accelerated in type 1 diabetes mellitus children? Analyses from the ocular parameters
Authors: Xiao Ying , Qian Yu , Yang Chenhao , Zou Haidong 
Published: April 2023

Abstract
Background
This study compares the ocular biometry with or without myopia in children with type 1 diabetes mellitus (T1DM) and healthy children in China to analyse the difference between myopia in T1DM and healthy children.

Methods
A case-control study was conducted at the Children’s Hospital of Fudan University. The children were divided into four subgroups depending on myopia or non-myopia, T1DM or non-DM. The participants were evaluated for anterior chamber depth (ACD), lens thickness (LT), axial length (AL), average keratometry (K) and lens power (P). Furthermore, cycloplegic refraction was performed and the spherical equivalent (SE) was acquired.

Results
One hundred and ten patients with T1DM and 102 healthy subjects were included in this study. In the age-sex adjusted analysis, the myopia T1DM subgroup showed thicker LT (p = 0.001), larger P (p = 0.003) and similar ACD, AL, K and SE (all p > 0.05) compared to the myopia control subgroup. Additionally, the myopia T1DM subgroup showed longer AL (p < 0.001) and similar ACD, LT, K and P (all p > 0.05) as the non-myopia T1DM subgroup. In the multivariate linear regression, for T1DM patients, eyes with longer AL, shallower ACD, and larger P were associated with a decrease in SE (p < 0.001, p = 0.01, and p < 0.001, respectively). Meanwhile, for healthy controls, eyes with longer AL and larger P were associated with a decrease in SE (all p < 0.001).

Conclusions
The ACD and LT of myopia T1DM children remained unchanged compared to non-myopia T1DM children. This means that the lens in the former group could not lose power as compensation for AL growth, thus providing evidence for the acceleration of myopia in T1DM children.
Effect of ceramic primers with different chemical contents on the shear bond strength of CAD/CAM ceramics with resin cement after thermal ageing
Authors: Uğur Mehmet , Kavut İdris , Tanrıkut Özgür Ozan , Cengiz Önder 
Published: April 2023

Abstract
Background
This study evaluated the effect of ceramic primers containing 10-methacryloyloxydecyl phosphate (10-MDP) and γ-methacryloxypropyl trimethoxysilane (γ-MPTS) agents on the shear bond strength (SBS) of CAD/CAM ceramics with different chemical structures and resin cement.

Methods
A total of 640 CAD/CAM ceramic specimens were obtained from Vita Mark II (VM), IPS E.max CAD (EM), Vita Suprinity (VS) and Vita Enamic (VE). The specimens were divided into two groups: etched with hydrofluoric acid (HF) and unetched. Each group was treated with a different ceramic primer (Clearfil Ceramic Primer Plus, G-Multi Primer and Monobond S), except for an untreated group (n = 10). After ceramic primers and resin cement were applied to each ceramic surface, half of the specimens were thermally aged at 10,000 cycles, 5–55 ± 1 °C, with a dwell time of 30 s. The SBS was tested with a universal testing machine at a 0.5 mm/min crosshead speed. Data were analysed by using statistical software (SPSS 20). Normal data distribution was checked with the Shapiro‒Wilk test. Three-way ANOVA was used to analyse the difference between the numeric data of the HF etched and thermally aged groups. A post hoc Tukey test was applied in the paired comparison of significant difference. The statistical significance level was accepted as p < 0.05.

Results
The highest SBS values were obtained in the HF etched G-Multi primer applied nonaged EM group (28.3 ± 2.62 MPa), while the lowest values were obtained in the nonetched and thermally aged EM group that received no treatment (2.86 ± 0.04 Mpa). The SBS significantly increased in all specimens on which the ceramic primer was applied (p < 0.001). Thermal ageing had a significant negative effect on the SBS values in all groups (p < 0.001).

Conclusion
The positive combined effects of the 10-MDP and γ-MPTS agents resulted in a significant increase in the bonding strength of the resin cement to the CAD/CAM ceramics. In addition, the increase in the amount of inorganic filler provided a favourable effect on durable adhesion.
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome
Authors: Polokhov Dmitrii , Fedorova Daria , Ignatova Anastasiya , Ponomarenko Evgeniya , Rashevskaya Elena , Martyanov Alexey , Podoplelova Nadezhda , Aleksenko Maxim , Mersiyanova Irina , Seregina Elena , Poletaev Aleksandr , Truchina Ekaterina , Raykina Elena , Plyasunova Svetlana , Novichkova Galina , Zharkov Pavel , Panteleev Mikhail 
Published: April 2023

Abstract
Background
Platelet-type bleeding disorder 20 (BDPLT20), as known as SLFN14-related thrombocytopenia, is a rare inherited thrombocytopenia (IT). Previously, only 5 heterozygous missense mutations in the SLFN14 gene have been reported.

Methods
A comprehensive clinical and laboratory examination of a 17-year-old female patient with macrothrombocytopenia and severe mucocutaneous bleeding was performed. Examination was carried out using standardized questionnaires to assess bleeding, high-throughput sequencing (Next Generation Sequencing), optical and fluorescence microscopy, flow cytometry with activation and analysis of intracellular calcium signaling of platelets, light transmission aggregometry and thrombus growth in the flow chamber.

Results
Analysis of the patient’s genotype revealed a previously undescribed c.655 A > G (p.K219E) variant in the hotspot of the SLFN14 gene. Immunofluorescence and brightfield examination of platelets in the smear showed heterogeneity in cells size, including giant forms over 10 μm (normal size 1–5) in diameter, with vacuolization and diffuse distribution of β1-tubulin and CD63. Activated platelets showed impaired contraction and shedding/internalization of GPIb. GP IIb/IIIa clustering was increased at rest and attenuated upon activation. Intracellular signalling study revealed impaired calcium mobilization upon TRAP 35.97 nM (reference range 180 ± 44) and CRP-XL 10.08 nM (56 ± 30) stimulation. Aggregation with ADP, collagen, TRAP, arachidonic acid and epinephrine was impaired in light transmission aggregometry; agglutination with ristocetin persisted. In the flow chamber with a shear rate of 400 s-1 platelet adhesion to collagen and clot growth were impaired.

Conclusion
The revealed disorders of phenotype, cytoskeleton and intracellular signaling explain the nature of SLFN14 platelet dysfunction and the patient’s severe hemorrhagic syndrome.
Whole-genome sequencing identifies novel predictors for hematopoietic cell transplant outcomes for patients with myelodysplastic syndrome: a CIBMTR study
Authors: Zhang Tao , Auer Paul , Dong Jing , Cutler Corey , Dezern Amy E. , Gadalla Shahinaz M. , Deeg H. Joachim , Nazha Aziz , Carlson Karen-Sue , Spellman Stephen , Bolon Yung-Tsi , Saber Wael 
Published: April 2023

AbstractRecurrent mutations in TP53, RAS pathway and JAK2 genes were shown to be highly prognostic of allogeneic hematopoietic cell transplant (alloHCT) outcomes in myelodysplastic syndromes (MDS). However, a significant proportion of MDS patients has no such mutations. Whole-genome sequencing (WGS) empowers the discovery of novel prognostic genetic alterations. We conducted WGS on pre-alloHCT whole-blood samples from 494 MDS patients. To nominate genomic candidates and subgroups that are associated with overall survival, we ran genome-wide association tests via gene-based, sliding window and cluster-based multivariate proportional hazard models. We used a random survival forest (RSF) model with build-in cross-validation to develop a prognostic model from identified genomic candidates and subgroups, patient-, disease- and HCT-related clinical factors. Twelve novel regions and three molecular signatures were identified with significant associations to overall survival. Mutations in two novel genes, CHD1 and DDX11, demonstrated a negative impact on survival in AML/MDS and lymphoid cancer data from the Cancer Genome Atlas (TCGA). From unsupervised clustering of recurrent genomic alterations, genomic subgroup with TP53/del5q is characterized with the significant association to inferior overall survival and replicated by an independent dataset. From supervised clustering of all genomic variants, more molecular signatures related to myeloid malignancies are characterized from supervised clustering, including Fc-receptor FCGRs, catenin complex CDHs and B-cell receptor regulators MTUS2/RFTN1. The RSF model with genomic candidates and subgroups, and clinical variables achieved superior performance compared to models that included only clinical variables.