bluuebunny/crossref_metadata_2025_split huggingface dataset:
LDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information
Authors: Dong Zihan , Jiang Wei , Li Hongyu , DeWan Andrew T , Zhao Hongyu 
Published: July 2024

Abstract
Gene–environment (GE) interactions are essential in understanding human complex traits. Identifying these interactions is necessary for deciphering the biological basis of such traits. In this study, we review state-of-art methods for estimating the proportion of phenotypic variance explained by genome-wide GE interactions and introduce a novel statistical method Linkage-Disequilibrium Eigenvalue Regression for Gene–Environment interactions (LDER-GE). LDER-GE improves the accuracy of estimating the phenotypic variance component explained by genome-wide GE interactions using large-scale biobank association summary statistics. LDER-GE leverages the complete Linkage Disequilibrium (LD) matrix, as opposed to only the diagonal squared LD matrix utilized by LDSC (Linkage Disequilibrium Score)-based methods. Our extensive simulation studies demonstrate that LDER-GE performs better than LDSC-based approaches by enhancing statistical efficiency by ~23%. This improvement is equivalent to a sample size increase of around 51%. Additionally, LDER-GE effectively controls type-I error rate and produces unbiased results. We conducted an analysis using UK Biobank data, comprising 307 259 unrelated European-Ancestry subjects and 966 766 variants, across 217 environmental covariate-phenotype (E-Y) pairs. LDER-GE identified 34 significant E-Y pairs while LDSC-based method only identified 23 significant E-Y pairs with 22 overlapped with LDER-GE. Furthermore, we employed LDER-GE to estimate the aggregated variance component attributed to multiple GE interactions, leading to an increase in the explained phenotypic variance with GE interactions compared to considering main genetic effects only. Our results suggest the importance of impacts of GE interactions on human complex traits.
An acidic loop in the forkhead-associated domain of the yeast meiosis-specific kinase Mek1 interacts with a specific motif in a subset of Mek1 substrates
Authors: Weng Qixuan , Wan Lihong , Straker Geburah C , Deegan Tom D , Duncker Bernard P , Neiman Aaron M , Luk Ed , Hollingsworth Nancy M 
Published: July 2024

Abstract
The meiosis-specific kinase Mek1 regulates key steps in meiotic recombination in the budding yeast, Saccharomyces cerevisiae. MEK1 limits resection at double-strand break (DSB) ends and is required for preferential strand invasion into homologs, a process known as interhomolog bias. After strand invasion, MEK1 promotes phosphorylation of the synaptonemal complex protein Zip1 that is necessary for DSB repair mediated by a crossover-specific pathway that enables chromosome synapsis. In addition, Mek1 phosphorylation of the meiosis-specific transcription factor, Ndt80, regulates the meiotic recombination checkpoint that prevents exit from pachytene when DSBs are present. Mek1 interacts with Ndt80 through a 5-amino acid sequence, RPSKR, located between the DNA-binding and activation domains of Ndt80. AlphaFold Multimer modeling of a fragment of Ndt80 containing the RPSKR motif and full-length Mek1 indicated that RPSKR binds to an acidic loop located in the Mek1 FHA domain, a noncanonical interaction with this motif. A second protein, the 5′-3′ helicase Rrm3, similarly interacts with Mek1 through an RPAKR motif and is an in vitro substrate of Mek1. Genetic analysis using various mutants in the MEK1 acidic loop validated the AlphaFold model, in that they specifically disrupt 2-hybrid interactions with Ndt80 and Rrm3. Phenotypic analyses further showed that the acidic loop mutants are defective in the meiotic recombination checkpoint and, in certain circumstances, exhibit more severe phenotypes compared to the NDT80 mutant with the RPSKR sequence deleted, suggesting that additional, as yet unknown, substrates of Mek1 also bind to Mek1 using an RPXKR motif.
Combination of 2 Quantitative Immunoassays and Clinical Score Algorithm to Reduce False-Negative Results in Heparin-Induced Thrombocytopenia: Prevalence Study of Mauriziano Hospital in Turin, Italy
Authors: Minei Veronica , Valesella Paolo , Papandrea Maria , Sivera Piera , Insana Antonio , Cosseddu Domenico , Umurungi Johanna , Montaruli Barbara 
Published: July 2024

Abstract

Background
Heparin-induced thrombocytopenia (HIT) is a serious adverse effect of heparin treatment caused by platelet-activating anti-platelet factor 4 (PF4)/heparin antibodies. Accurate diagnosis of HIT is essential but remains challenging. The aim of our study was to explore the performance of our optimized diagnostic laboratory algorithm, based on Chemiluminescence (CliA) and ELISA immunoassays, on suspected HIT patients. The study compared the prevalence of HIT diagnosis in A.O. Mauriziano with the literature.

Methods
163 consecutive patients were investigated for suspected HIT with CliA HemosIL Acustar HIT-IgG, Werfen. HIT was ruled out in all patients with CliA &lt;0.13 U/mL. All patients with CliA &gt;0.13 U/mL were further investigated with Zymutest-HIA anti-PF4 IgG ELISA immunoassay. In these patients, HIT was ruled out on the combination of CliA between 0.13 and 1.0 U/mL followed by ELISA assay &lt;0.300 OD. HIT was ruled in patients whose plasma tested positive or doubtful with CliA and positive with ELISA immunoassay and confirmed positive with a platelet aggregation test (PAT). Suspicion of HIT was revealed with clinical 4Ts score or recent suggestive anamnestic history.

Results
Our diagnostic algorithm ruled out HIT diagnosis in 144/163 patients (88%) and predicted a positive PAT in 5/19 (26%) of CliA positive (4/5) or ELISA positive and CliA doubtful (1/5) patients.

Conclusions
Our prevalence was 3.1%, comparable with the literature. The approach combining 2 quantitative immunoassays’ (CliA and ELISA) results and 4Ts score probability was able to rule out the diagnosis within 1 h in 66% of patients with suspected HIT and within 24 h in 88% of patients. In the remaining 12% of cases, management decisions have to be based on individualized judgment while awaiting functional confirming results (48–72 h).
Genital Burns Are Associated With Worse Psychosocial and Physical Outcomes
Authors: Shah Suhaib , Golovko George , Karim Abbas , Segura Carolina , Song Juquan , Haseem Maria , Wolf Steven , El Ayadi Amina 
Published: July 2024

Abstract
Genital burns are unique and complex injuries that impact patients physically and emotionally. This study investigates the specific impact of genital burns on psychosocial and physical outcomes. A retrospective cohort study was conducted using the TriNetX database, encompassing over 117 million patients from U.S. healthcare institutions. Patients with genital burns were identified and categorized into subcohorts based on total body surface area (TBSA) and burn degree. Propensity score matching and cohort balancing were performed based on age, gender, race, and ethnicity. Outcomes were analyzed both short-term (1 month) and long-term (5 years), focusing on psychiatric and physical aspects. This study identified 3496 genital burn patients over a 15-year period. Analyses revealed that genital burns significantly increased short-term risk of death (risk ratios [RR]: 2.8), anxiety (RR: 2.656), hospitalization (RR: 2.167), and any anxiety, posttraumatic stress disorder, or depression (RR: 2.363), and long-term risk of death (RR: 1.658) and pruritus (RR: 1.58) (all P &lt; .05). Interestingly, genital burn patients showed a lower risk of chronic joint pain compared to other burn injuries (RR: 0.815) (P &lt; .05). These results occurred independently of the extent of TBSA. Genital burns have a distinctive impact on patients, leading to higher rates of certain psychiatric morbidities and physical complications. This study highlights the need for tailored care and consideration of the unique challenges faced by patients with genital burns, both in the immediate aftermath and in the long term. Understanding the specific impacts of genital burns is vital for healthcare practitioners to develop care strategies and better support for patients recovering from such injuries.
Antibiotic dip and irrigation solutions confer increased antimicrobial efficacy of inflatable penile prosthesis hydrophilic surfaces compared with 0.05% chlorhexidine gluconate
Authors: Simhal Rishabh , Im Brian H , Shah Sohan , Guillaume Samone , Kerkvliet Carlos Perez , Evans Rachel , Hickok Noreen J , Chung Paul H 
Published: July 2024

Abstract

Background
Chlorhexidine gluconate (CHG) (0.05%) has recently been suggested as both a dip for the hydrophilic surface and an irrigation solution in the setting of penile prosthesis (PP) surgery.

Aim
The study sought to compare the antimicrobial efficacy of 0.05% CHG with vancomycin and gentamicin (VG) antibiotics as dip and/or irrigation solutions in the setting of a hydrophilic PP surface in vitro.

Methods
Sterile PPs with a hydrophilic coating were obtained. A series of experiments were performed to evaluate the efficacy of normal saline (NS), 0.05% CHG, or VG as dip and/or irrigation solutions to reduce methicillin-sensitive Staphylococcus aureus adhesion to PP surfaces. The 8-mm discs from PPs were incubated in 105 colony-forming units/mL of methicillin-sensitive S aureus for 48 hours, plated, and counted. Disc-diffusion tests were conducted by suspending 6-mm discs for 2 minutes in NS, 0.05% CHG, or VG, then placing them coated side down onto plates streaked with the following organisms: methicillin-sensitive S aureus, S epidermidis, Enterococcus, and Escherichia coli. After 24 hours of growth, zones of inhibition were measured.

Outcomes
We found average bacterial counts (colony-forming units/mL) and zones of inhibition (mm) following a series of treatment protocols of PP discs.

Results
PP discs dipped in VG reduced bacterial adhesion to the implant surface &gt;0.05% CHG (~5.5 log vs ~1.5 log; P &lt; .01). Discs irrigated with either 0.05% CHG or NS removed all dip solution adsorbed to the hydrophilic surface, allowing bacterial growth. VG irrigation adsorbed to the hydrophilic surface even after 0.05% CHG or NS dips, reducing bacterial adherence (~3 log). Dipping and irrigating discs with VG was most effective in reducing adherent bacteria (~5.5 log) and was the only irrigation that showed antimicrobial activity.

Clinical Translation
VG, when used both as a prophylactic dip and as an intraoperative irrigation solution for hydrophilic penile implant surfaces, has improved efficacy to 0.05% CHG and NS.

Strengths and Limitations
This is the first study to compare the use of VG, 0.05% CHG, and NS as prophylactic dips and intraoperative irrigations for hydrophilic penile implant surfaces. Limitations include the use of in vitro studies, which serve as a proxy for in vivo practices and may not be entirely accurate nor translatable clinically.

Conclusion
We demonstrated the superior efficacy of VG as a combined dip and irrigation solution for hydrophilic penile implant surfaces compared with 0.05% CHG.
Ribosome specialization in cancer: a spotlight on ribosomal proteins
Authors: Ramalho Sofia , Dopler Anna , Faller William James 
Published: July 2024

AbstractIn the past few decades, our view of ribosomes has changed substantially. Rather than passive machines without significant variability, it is now acknowledged that they are heterogeneous, and have direct regulatory capacity. This ‘ribosome heterogeneity’ comes in many flavors, including in both the RNA and protein components of ribosomes, so there are many paths through which ribosome specialization could arise. It is easy to imagine that specialized ribosomes could have wide physiological roles, through the translation of specific mRNA populations, and there is now evidence for this in several contexts. Translation is highly dysregulated in cancer, needed to support oncogenic phenotypes and to overcome cellular stress. However, the role of ribosome specialization in this is not clear. In this review we focus on specialized ribosomes in cancer. Specifically, we assess the impact that post-translational modifications and differential ribosome incorporation of ribosomal proteins (RPs) have in this disease. We focus on studies that have shown a ribosome-mediated change in translation of specific mRNA populations, and hypothesize how such a process could be driving other phenotypes. We review the impact of RP-mediated heterogeneity in both intrinsic and extrinsic oncogenic processes, and consider how this knowledge could be leveraged to benefit patients.
A swallowed denture leading to misdiagnosis with esophageal neoplasm: a case report
Authors: Shadidi Asil Roozbeh , Zamani Amir , Fooladi Zahra , Hatampour Kasra 
Published: July 2024

Abstract

Introduction
Foreign body ingestion can lead to esophageal complications, including perforation and impaction, in up to 20% of cases, making it a critical situation. Misdiagnosis or delayed diagnosis can cause severe complications.

Case presentation
We present the case of a 78-year-old female who swallowed an acrylic partial denture leading to progressive dysphagia and a vegetative ulcerative lesion on endoscopy. The lesion was initially misdiagnosed as a neoplasm of the esophagus. CT scan and a repeat endoscopy revealed the presence of a denture in the esophagus. The denture was successfully removed with a rigid esophagoscope, and no evidence of complications was reported in follow-up visits.

Discussion
Diagnosis of esophageal foreign bodies involves imaging studies and endoscopy, which is the gold standard for diagnosis and management. CT scans also have an important role in diagnosing controversial cases. Treatment depends on the size, shape, and location of the object.
Automatic purification of skylight spectrum based on an autoencoder
Authors: Ding Zhichao , Tu Liangping , Yang Haifeng , Jiang Bin , Li Xiangru , Yang Yuqing , Zhang Hui , Li Jundi 
Published: July 2024

Abstract
In the realm of astronomical spectroscopic observation, the purity of skylight spectra is crucial for accurate analysis, often complicated by interference from neighboring celestial objects. Addressing this challenge, a novel automatic purification algorithm is proposed in this study, leveraging the power of auto-coding mechanisms. By harnessing the inherent data features and shared representations between skylight and target objects, this method effectively isolates skylight spectra from residual signals of neighboring objects. Central to this approach is the utilization of an encoder-decoder framework. The encoder dynamically learns the combined features of skylight and target objects, generating respective coding vectors. These vectors are then utilized to subtract the target-specific features from the skylight coding space, facilitating the extraction of pure skylight characteristics. Subsequently, the decoder reconstructs the refined skylight data, effectively eliminating residual components associated with neighboring celestial bodies. A notable strength of this algorithm lies in its ability to perform feature extraction and purification autonomously, without relying on labeled data. Experimental validation conducted on LAMOST-DR5 datasets demonstrates the efficacy of the proposed method. By effectively removing spectral information from target objects within skylight spectra, the algorithm yields comparatively pure skylight spectra, paving the way for enhanced astronomical spectroscopic analyses.
Predicting Clinical Improvement in Early Psychosis Using Circuit-Based Resting-State Functional Magnetic Resonance Imaging
Authors: Smucny Jason , Lesh Tyler A , Albuquerque Marina D , Rhilinger Joshua P , Carter Cameron S 
Published: July 2024

Abstract

Background and Hypothesis
Identifying biomarkers that predict treatment response in early psychosis (EP) is a priority for psychiatry research. Previous work suggests that resting-state connectivity biomarkers may have promise as predictive measures, although prior results vary considerably in direction and magnitude. Here, we evaluated the relationship between intrinsic functional connectivity of the attention, default mode, and salience resting-state networks and 12-month clinical improvement in EP.

Study Design
Fifty-eight individuals with EP (less than 2 years from illness onset, 35 males, average age 20 years) had baseline and follow-up clinical data and were included in the final sample. Of these, 30 EPs showed greater than 20% improvement in Brief Psychiatric Rating Scale (BPRS) total score at follow-up and were classified as “Improvers.”

Study Results
The overall logistic regression predicting Improver status was significant (χ2 = 23.66, Nagelkerke’s R2 = 0.45, P &lt; .001, with 85% concordance). Significant individual predictors of Improver status included higher default mode within-network connectivity, higher attention-default mode between-network connectivity, and higher attention-salience between-network connectivity. Including baseline BPRS as a predictor increased model significance and concordance to 92%, and the model was not significantly influenced by the dose of antipsychotic medication (chlorpromazine equivalents). Linear regression models predicting percent change in BPRS were also significant.

Conclusions
Overall, these results suggest that resting-state functional magnetic resonance imaging connectivity may serve as a useful biomarker of clinical outcomes in recent-onset psychosis.
Overview of multifunctional Tregs in cardiovascular disease: From insights into cellular functions to clinical implications
Authors: Kumar Vipin , Narisawa Megumi , Cheng Xian Wu 
Published: July 2024

AbstractRegulatory T cells (Tregs) are crucial in regulating T‐cell‐mediated immune responses. Numerous studies have shown that dysfunction or decreased numbers of Tregs may be involved in inflammatory cardiovascular diseases (CVDs) such as atherosclerosis, hypertension, myocardial infarction, myocarditis, cardiomyopathy, valvular heart diseases, heart failure, and abdominal aortic aneurysm. Tregs can help to ameliorate CVDs by suppressing excessive inflammation through various mechanisms, including inhibition of T cells and B cells, inhibition of macrophage‐induced inflammation, inhibition of dendritic cells and foam cell formation, and induction of anti‐inflammatory macrophages. Enhancing or restoring the immunosuppressive activity of Tregs may thus serve as a fundamental immunotherapy to treat hypertension and CVDs. However, the precise molecular mechanisms underlying the Tregs‐induced protection against hypertension and CVDs remain to be investigated. This review focuses on recent advances in our understanding of Tregs subsets and function in CVDs. In addition, we discuss promising strategies for using Tregs through various pharmacological approaches to treat hypertension and CVDs.
The Effects of Mentoring Programs on Mental Health in Undergraduate Nursing Students: An Integrative Review
Authors: Skrovanek Elizabeth , Karakachian Angela , Nolfi David 
Published: July 2024

AbstractAIMThe aim of this study was to examine the effects of mentoring programs on undergraduate nursing students’ mental health.BACKGROUNDThe study of nursing has been cited as stressful, with negative effects on academic and physical well-being and mental health in nursing students.METHODAn integrative review of the literature using the method of Whittemore and Knafl was performed on mentoring programs designed to mitigate student stress. Electronic databases searched included CINAHL, Medline, PubMed, Embase, ERIC, and Scopus.RESULTSThe eight studies included in this review suggest that mentoring has positive impacts on nursing students’ mental health, reducing stress and anxiety and enhancing well-being and sense of belonging.CONCLUSIONMentoring programs have positive effects on mental health outcomes in undergraduate nursing students. Implementation of structured programs at the start of undergraduate studies can facilitate increased mental and physical well-being and decrease stress and anxiety.
Impact of Patient Race/Ethnicity on Premium Intraocular Lens Utilization
Authors: Solli Elena M. , Prescott Christina R. 
Published: July 2024

Objectives:
To evaluate the relationship between social determinants of health and the likelihood of receiving a premium intraocular lens (IOL) at the time of cataract surgery.

Methods:
Retrospective chart review of a single-center, academic ophthalmology practice over a one-year period, with a primary outcome measure of placement of either a premium or standard IOL. We used logistic regression to calculate the odds of receiving a premium IOL, stratifying patients based on self-identified race/ethnicity, age, sex, insurance type (private insurance vs. Medicare or Medicaid), estimated household income (based on median household income for zip code), and presence of ocular pathology.

Results:
Compared with self-identified White patients, Black patients were least likely to receive premium IOLs (OR=0.220, 95% CI 0.137–0.340, P<0.001), followed by Hispanic patients (OR=0.308, 95% CI 0.104–0.730) and Asian patients (OR=0.479, 95% CI 0.302–0.734). Patients with Medicare or Medicaid insurance were also less likely to receive premium IOLs (OR 0.522, 95% CI 0.336–0.784).

Conclusions:
White patients in our practice were more likely to receive premium IOLs than non-White patients, even when controlling for age, sex, insurance type, estimated median household income, and presence of ocular comorbidities. The underlying reason for this disparity should be explored further.
Utilization of Discharge Checklist and Improved Education Reduces Hospital Readmission Rates in Childhood Leukemia Patients Receiving Induction Therapy
Authors: Goode Erin , Fishel Ben-Kenan Rotem , Hess Jennifer , Walsh Alexandra 
Published: July 2024

Objective:
The aim is to identify preventable cause for hospital readmissions during induction and implement interventions to decreased preventable treatment-associated complications.

Background:
Multiple factors contribute to patients with acute lymphoblastic leukemia (ALL) requiring readmissions during induction.

Materials and Methods:
A dashboard monitored features of newly diagnosed patients with ALL. Readmission causes were stratified as preventable, possibly preventable, or unpreventable. A discharge checklist, including standardized education, and change of discharge date were implemented.

Results:
Initially, there were 57 hospital readmissions of 98 patients (9 intensive care unit admissions and 2 deaths). Sixteen preventable (28.1%) and 32 unpreventable (56.1%) readmissions. After the interventions were initiated, including improved education, discharge checklist utilization, and standardized discharge date, there were 23 readmissions (78.3% were unpreventable, 6 intensive care unit admissions).

Conclusion:
Intervention implementation reduced readmission rates of induction patients with ALL by 20%.