bluuebunny/crossref_metadata_2025_split huggingface dataset:
Endogenous endophthalmitis secondary to Lemierre’s Syndrome originating from pharyngotonsillitis
Authors: Gangoitia Gorrotxategi Nerea , Garmendia Iñigo Salmeron , Heras-Mulero Henar , Arbués Santiago López , Silva Esther Compains 
Published: August 2024

Abstract
Purpose
The purpose of this article is to report a case of Lemierre’s Syndrome producing unilateral endogenous endophthalmitis in a healthy, young woman with a history of tonsillitis.

Case report/observations
A 17-year-old healthy woman developed fever after a few days of sore throat. She later developed pneumonia with septic signs, leading to admission to the Intensive Care Unit. Lemierre Syndrome was diagnosed due to multiple septic pulmonary emboli and signs of sepsis following a recent episode of tonsillitis. During hospitalization, the patient complained of decreased visual acuity and floaters in her left eye. Ophthalmological examination revealed papillary edema, vitritis, foci of chorioretinitis in the macula and Roth’s spots, confirming the diagnosis of endogenous endophthalmitis. Subsequently, she underwent appropriate treatment, progressing satisfactorily.

Conclusion and importance
Although ophthalmological manifestations are rare, due to the pathophysiological characteristics of Lemierre’s Syndrome, all patients should underwent standard ophthalmologic assessment, even in the absence of ophthalmic symptoms or visible findings, as part of a multidisciplinary management approach.
Visualizing and diagnosing spillover within randomized concurrent controlled trials through the application of diagnostic test assessment methods
Authors: Hurley James C. 
Published: August 2024

Abstract
Background
Spillover of effect, whether positive or negative, from intervention to control group patients invalidates the Stable Unit Treatment Variable Assumption (SUTVA). SUTVA is critical to valid causal inference from randomized concurrent controlled trials (RCCT). Spillover of infection prevention is an important population level effect mediating herd immunity. This herd effect, being additional to any individual level effect, is subsumed within the overall effect size (ES) estimate derived by contrast-based techniques from RCCT’s. This herd effect would manifest only as increased dispersion among the control group infection incidence rates above background.

Methods and results
The objective here is to explore aspects of spillover and how this might be visualized and diagnosed. I use, for illustration, data from 190 RCCT’s abstracted in 13 Cochrane reviews of various antimicrobial versus non-antimicrobial based interventions to prevent pneumonia in ICU patients. Spillover has long been postulated in this context. Arm-based techniques enable three approaches to identify increased dispersion, not available from contrast-based techniques, which enable the diagnosis of spillover within antimicrobial versus non-antimicrobial based infection prevention RCCT’s. These three approaches are benchmarking the pneumonia incidence rates versus a clinically relevant range, comparing the dispersion in pneumonia incidence among the control versus the intervention groups and thirdly, visualizing the incidence dispersion within summary receiver operator characteristic (SROC) plots. By these criteria there is harmful spillover effects to concurrent control group patients.

Conclusions
Arm-based versus contrast-based techniques lead to contrary inferences from the aggregated RCCT’s of antimicrobial based interventions despite similar summary ES estimates. Moreover, the inferred relationship between underlying control group risk and ES is ‘flipped’.
Gender-based differences in the representation and experiences of academic leaders in medicine and dentistry: a mixed method study from Pakistan
Authors: Shahzad Muhammad , Jamil Brekhna , Bushra Mehboob , Mahboob Usman , Elmigdadi Fayig 
Published: August 2024

Abstract
Background
Research evidence suggests gender-based differences in the extent and experiences of academic leaders across the globe even in developed countries like USA, UK, and Canada. The under-representation is particularly common in higher education organizations, including medical and dental schools. The current study aimed to investigate gender-based distribution and explore leaders’ experiences in the medical and dental institutes in a developing country, Pakistan.

Methods
A mixed-method approach was used. Gender-based distribution data of academic leaders in 28 colleges including 18 medical and 10 dental colleges of Khyber Pakhtunkhwa, Pakistan were collected. Qualitative data regarding the experiences of academic leaders (n = 10) was collected through semi-structured interviews followed by transcription and thematic analysis using standard procedures.

Results
Gender-based disparities exist across all institutes with the greatest differences among the top-rank leadership level (principals/deans) where 84.5% of the positions were occupied by males. The gender gap was relatively narrow at mid-level leadership positions reaching up to as high as > 40% of female leaders in medical/dental education. The qualitative analysis found gender-based differences in the experiences under four themes: leadership attributes, leadership journey, challenges, and support.

Conclusions
The study showed that women are not only significantly under-represented in leadership positions in medical and dental colleges in Pakistan, they also face gender-based discrimination and struggling to maintain a decent work life balance. These findings are critical and can have important implications for government, organizations, human resource managers, and policymakers in terms of enacting laws, proposing regulations, and establishing support mechanisms to improve gender-based balance and help current and aspiring leaders in their leadership journey.
Prediction of sepsis mortality in ICU patients using machine learning methods
Authors: Gao Jiayi , Lu Yuying , Ashrafi Negin , Domingo Ian , Alaei Kamiar , Pishgar Maryam 
Published: August 2024

Abstract
Problem
Sepsis, a life-threatening condition, accounts for the deaths of millions of people worldwide. Accurate prediction of sepsis outcomes is crucial for effective treatment and management. Previous studies have utilized machine learning for prognosis, but have limitations in feature sets and model interpretability.

Aim
This study aims to develop a machine learning model that enhances prediction accuracy for sepsis outcomes using a reduced set of features, thereby addressing the limitations of previous studies and enhancing model interpretability.

Methods
This study analyzes intensive care patient outcomes using the MIMIC-IV database, focusing on adult sepsis cases. Employing the latest data extraction tools, such as Google BigQuery, and following stringent selection criteria, we selected 38 features in this study. This selection is also informed by a comprehensive literature review and clinical expertise. Data preprocessing included handling missing values, regrouping categorical variables, and using the Synthetic Minority Over-sampling Technique (SMOTE) to balance the data. We evaluated several machine learning models: Decision Trees, Gradient Boosting, XGBoost, LightGBM, Multilayer Perceptrons (MLP), Support Vector Machines (SVM), and Random Forest. The Sequential Halving and Classification (SHAC) algorithm was used for hyperparameter tuning, and both train-test split and cross-validation methodologies were employed for performance and computational efficiency.

Results
The Random Forest model was the most effective, achieving an area under the receiver operating characteristic curve (AUROC) of 0.94 with a confidence interval of ±0.01. This significantly outperformed other models and set a new benchmark in the literature. The model also provided detailed insights into the importance of various clinical features, with the Sequential Organ Failure Assessment (SOFA) score and average urine output being highly predictive. SHAP (Shapley Additive Explanations) analysis further enhanced the model’s interpretability, offering a clearer understanding of feature impacts.

Conclusion
This study demonstrates significant improvements in predicting sepsis outcomes using a Random Forest model, supported by advanced machine learning techniques and thorough data preprocessing. Our approach provided detailed insights into the key clinical features impacting sepsis mortality, making the model both highly accurate and interpretable. By enhancing the model’s practical utility in clinical settings, we offer a valuable tool for healthcare professionals to make data-driven decisions, ultimately aiming to minimize sepsis-induced fatalities.
Assessing hypertension care quality in Brazil: gender, race, and socioeconomic intersection in public and private services, 2013 and 2019 national health surveys
Authors: de Albuquerque Paulo Victor Cesar , Tomasi Elaine 
Published: August 2024

AbstractWe conducted a cross-sectional study of hypertension care in public and private services, analyzing gender, color, and socioeconomic status. Using data from the 2013 (n = 60,202) and 2019 (n = 90,846) national health surveys, hypertension prevalence increased from 21.4 to 23.9%. Quality of care declined from 41.7 to 35.4%, particularly in public services, disproportionately affecting low-income Black women. Poisson regression estimated prevalence ratios (PRs), with the lowest adjusted PR for high-quality care among low-income Black women. These findings highlight persistent health inequalities and the urgent need for intersectoral policies to promote health equity.
Contamination of a drug consumption room with drugs and potential risks for social health care workers
Authors: Cuffaro Flore , Dahm Georges , Marson Claude , Berlemont Patrick , Yegles Michel , Allar Claudia , Fauchet Lionel , Creta Matteo , Schneider Serge 
Published: August 2024

Abstract
Background
Studies have shown that contamination of surfaces by illicit drugs frequently occurs in forensic laboratories when manipulating seized samples as well as in pharmacies and hospitals when preparing medicinal drugs. In this project, we extended these studies to a Drug Consumption Room to investigate drug levels and possible exposure of the staff members.

Methods
We investigated pre and post cleaning contamination by heroin and cocaine and their degradation products 6-monoacetylmorphine and benzoylecgonine on different surfaces (tables, counters, computers and door handles) and in the ambient air. We also collected urine and hair samples from staff members to check for potential short and long term contaminations.

Results
Medium to heavy contamination has been detected on most surfaces and door handles; as expected, air contamination was particularly high in the smoking room. Drug levels were < LOD to very low in the urine and the hair samples of staff members tested.

Conclusion
The cleaning efficiency of the surfaces, carried out by staff and drug users after drug consumption, was often not satisfactory. The very low drug levels in hair indicate that acute health risks for staff members are low.
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy
Authors: Skvortsova Liliya , Perfilyeva Anastassiya , Bespalova Kira , Kuzovleva Yelena , Kabysheva Nailya , Khamdiyeva Ozada 
Published: August 2024

Abstract
Background
Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and more rare cases. It is noteworthy that most cases of various microdeletions are characterized by phenotypic signs of neuropsychological developmental disorders, which, however, have a different genetic origin. The localization of the microdeletions, the genes included in the region, as well as the structural features of the sequences of these genes have a cumulative influence on the phenotypic characteristics of the individuals for each specific case and the severity of the manifestations of disorders. The consideration of these features and their detailed analysis is important for a correct and comprehensive assessment of the disease.

Results
The article describes a clinical case of 7p22.3 microdeletion in a patient with congenital heart defect and neurological abnormalities - epilepsy, combined with moderate mental and motor developmental delay.

Conclusions
Through detailed genetic analyses, we are improving the clinical description of the rare 7p22.3 microdeletion and thus creating a basis for future genetic counseling and research into targeted therapies.
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Authors: Wang Hui , Chang Timothy S. , Dombroski Beth A. , Cheng Po-Liang , Patil Vishakha , Valiente-Banuet Leopoldo , Farrell Kurt , Mclean Catriona , Molina-Porcel Laura , Rajput Alex , De Deyn Peter Paul , Le Bastard Nathalie , Gearing Marla , Kaat Laura Donker , Van Swieten John C. , Dopper Elise , Ghetti Bernardino F. , Newell Kathy L. , Troakes Claire , de Yébenes Justo G. , Rábano-Gutierrez Alberto , Meller Tina , Oertel Wolfgang H. , Respondek Gesine , Stamelou Maria , Arzberger Thomas , Roeber Sigrun , Müller Ulrich , Hopfner Franziska , Pastor Pau , Brice Alexis , Durr Alexandra , Le Ber Isabelle , Beach Thomas G. , Serrano Geidy E. , Hazrati Lili-Naz , Litvan Irene , Rademakers Rosa , Ross Owen A. , Galasko Douglas , Boxer Adam L. , Miller Bruce L. , Seeley Willian W. , Van Deerlin Vivanna M. , Lee Edward B. , White Charles L. , Morris Huw , de Silva Rohan , Crary John F. , Goate Alison M. , Friedman Jeffrey S. , Leung Yuk Yee , Coppola Giovanni , Naj Adam C. , Wang Li-San ,   P. S. P. genetics study group, Dalgard Clifton , Dickson Dennis W. , Höglinger Günter U. , Schellenberg Gerard D. , Geschwind Daniel H. , Lee Wan-Ping 
Published: August 2024

Abstract
Background
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP were based on genotype array, therefore, were inadequate for the analysis of rare variants as well as larger mutations, such as small insertions/deletions (indels) and structural variants (SVs).

Method
In this study, we performed whole genome sequencing (WGS) and conducted association analysis for single nucleotide variants (SNVs), indels, and SVs, in a cohort of 1,718 cases and 2,944 controls of European ancestry. Of the 1,718 PSP individuals, 1,441 were autopsy-confirmed and 277 were clinically diagnosed.

Results
Our analysis of common SNVs and indels confirmed known genetic loci at MAPT, MOBP, STX6, SLCO1A2, DUSP10, and SP1, and further uncovered novel signals in APOE, FCHO1/MAP1S, KIF13A, TRIM24, TNXB, and ELOVL1. Notably, in contrast to Alzheimer’s disease (AD), we observed the APOE ε2 allele to be the risk allele in PSP. Analysis of rare SNVs and indels identified significant association in ZNF592 and further gene network analysis identified a module of neuronal genes dysregulated in PSP. Moreover, seven common SVs associated with PSP were observed in the H1/H2 haplotype region (17q21.31) and other loci, including IGH, PCMT1, CYP2A13, and SMCP. In the H1/H2 haplotype region, there is a burden of rare deletions and duplications (P = 6.73 × 10–3) in PSP.

Conclusions
Through WGS, we significantly enhanced our understanding of the genetic basis of PSP, providing new targets for exploring disease mechanisms and therapeutic interventions.
A qualitative study on the experiences of family caregivers of children with End Stage Kidney Disease (ESKD)
Authors: Boateng Edward Appiah , Bisiw Mabel Baaba , Agyapomah Rosemary , Enyemadze Isaac , Kyei-Dompim Joana , Kumi Samuel Peprah , Boakye Dorothy Serwaa 
Published: August 2024

Abstract
Background
Family caregivers, mostly parents, are greatly involved in the care of their children with end stage kidney disease (ESKD) globally. Yet, the experiences of these caregivers and the demands placed on them by the caregiving role have not been explored or documented in Ghana. This study explored how caregiving affects the psychological, physical, social, and spiritual well-being of family caregivers of children with end stage kidney disease (ESKD) in Ghana.

Methods
A phenomenological approach with the purposive sampling technique was used to gather data from 12 family caregivers of children with ESKD at a pediatric renal unit in Ghana. A semi-structured interview guide was constructed based on the constructs of the City of Hope Quality of Life (QoL) Family Caregiver Model and the research objectives. Colaizzi’s thematic analysis approach was utilized to analyze data for this study. Themes were organized under the domains of the chosen model, and a new theme outside these domains was also generated.

Results
The majority of the family caregivers experienced anxiety, fear, uncertainty, and hopelessness in response to the children’s diagnosis and care. The thought of the possibility of the children dying was deeply traumatizing for our participants. Most participants reported bodily pains and physical ailments because of lifting and caring for the children. Financial constraint was also a key issue for all the family caregivers. Most of them received diverse support from their families and loved ones. Due to the demanding nature of the care, most family caregivers had to change or quit their jobs. They coped with the challenges through prayers, participating in religious activities, and being hopeful in God for healing.

Conclusion
All the family caregivers had their psychological well-being compromised as a result of the challenges they encountered physically, socially, and spiritually. Continuous psychosocial support, funding support, and review of policies on leave for civil workers with children diagnosed with ESKD are urgently required.
Overlooked poor-quality patient samples in sequencing data impair reproducibility of published clinically relevant datasets
Authors: Sprang Maximilian , Möllmann Jannik , Andrade-Navarro Miguel A. , Fontaine Jean-Fred 
Published: August 2024

Abstract
Background
Reproducibility is a major concern in biomedical studies, and existing publication guidelines do not solve the problem. Batch effects and quality imbalances between groups of biological samples are major factors hampering reproducibility. Yet, the latter is rarely considered in the scientific literature.

Results
Our analysis uses 40 clinically relevant RNA-seq datasets to quantify the impact of quality imbalance between groups of samples on the reproducibility of gene expression studies. High-quality imbalance is frequent (14 datasets; 35%), and hundreds of quality markers are present in more than 50% of the datasets. Enrichment analysis suggests common stress-driven effects among the low-quality samples and highlights a complementary role of transcription factors and miRNAs to regulate stress response. Preliminary ChIP-seq results show similar trends. Quality imbalance has an impact on the number of differential genes derived by comparing control to disease samples (the higher the imbalance, the higher the number of genes), on the proportion of quality markers in top differential genes (the higher the imbalance, the higher the proportion; up to 22%) and on the proportion of known disease genes in top differential genes (the higher the imbalance, the lower the proportion). We show that removing outliers based on their quality score improves the resulting downstream analysis.

Conclusions
Thanks to a stringent selection of well-designed datasets, we demonstrate that quality imbalance between groups of samples can significantly reduce the relevance of differential genes, consequently reducing reproducibility between studies. Appropriate experimental design and analysis methods can substantially reduce the problem.
The SME tool supporting employers of small- and medium-sized enterprises during the return to work of employees on long-term sick leave: study protocol for a randomized controlled trial and for a process evaluation
Authors: Beerda Donna C. E. , Greidanus Michiel A. , de Rijk Angelique E. , de Wind Astrid , Tamminga Sietske J. , Schaafsma Frederieke G. 
Published: August 2024

Abstract
Background
Returning to work after long-term sick leave can be challenging, particularly in small- and medium-sized enterprises (SMEs) where support may be limited. Recognizing the responsibilities and challenges of SME employers, a web-based intervention (hereafter the SME tool) has been developed. The SME tool aims to enhance the employer’s intention and ability to support the sick-listed employee. Based on the Self-Determination Theory, it is hypothesized that this intention is enhanced by intervening in the employer’s autonomy, competences, and relatedness targeted at, e.g., communication with sick-listed employee, involvement of other stakeholders, and practical support. This is achieved by means of providing templates, communication videos, and information on legislation. This article describes the design of an effect and process evaluation of the SME tool.

Methods
A randomized controlled trial (RCT) with a 6-month follow-up will be conducted with a parallel-group design with two arms: an intervention group and a control group. Sick-listed employees (≤ 8 weeks) of SMEs (≤ 250 employees) at risk of long-term sick leave and their employers will be recruited and randomly allocated as a dyad (1:1). Employers randomized to the intervention group receive unlimited access to the SME tool, while those in the control group will receive care as usual. The primary outcome is the satisfaction of the employee with the return to work (RTW) support provided by their employer. Secondary outcomes include social support, work performance, and quality of work life at the employee level and self-efficacy in providing RTW support at the employer level. Outcomes will be assessed using questionnaires at baseline and 1, 3, and 6 months of follow-up. Process evaluation measures include, e.g., recruitment and use of and perceived usefulness of the SME tool. Additionally, semi-structured interviews with employers, employees, and occupational physicians will explore the interpretation of the RCT results and strategies for the national implementation of the SME tool.

Discussion
The SME tool is hypothesized to be valuable in addition to usual care helping employers to effectively support the RTW of their long-term sick-listed employees, by improving the employers’ intention and ability to support.

Trial registration
ClinicalTrials.gov, NCT06330415. Registered on February 14, 2024.