bluuebunny/crossref_metadata_2025 huggingface dataset:
Development and validation of automated electronic health record data reuse for a multidisciplinary quality dashboard
Authors: Ebbers Tom , Takes Robert P , Honings Jimmie , Smeele Ludi E , Kool Rudolf B , van den Broek Guido B
Published: July 2023

Objective

To describe the development and validation of automated electronic health record data reuse for a multidisciplinary quality dashboard.

Materials and methods

Comparative study analyzing a manually extracted and an automatically extracted dataset with 262 patients treated for HNC cancer in a tertiary oncology center in the Netherlands in 2020. The primary outcome measures were the percentage of agreement on data elements required for calculating quality indicators and the difference between indicators results calculated using manually collected and indicators that used automatically extracted data.

Results

The results of this study demonstrate high agreement between manual and automatically collected variables, reaching up to 99.0% agreement. However, some variables demonstrate lower levels of agreement, with one variable showing only a 20.0% agreement rate. The indicator results obtained through manual collection and automatic extraction show high agreement in most cases, with discrepancy rates ranging from 0.3% to 3.5%. One indicator is identified as a negative outlier, with a discrepancy rate of nearly 25%.

Conclusions

This study shows that it is possible to use routinely collected structured data to reliably measure the quality of care in real-time, which could render manual data collection for quality measurement obsolete. To achieve reliable data reuse, it is important that relevant data is recorded as structured data during the care process. Furthermore, the results also imply that data validation is conditional to development of a reliable dashboard.
Combined GLUT1 and OXPHOS inhibition eliminates acute myeloid leukemia cells by restraining their metabolic plasticity
Authors: Rodriguez-Zabala Maria , Ramakrishnan Ramprasad , Reinbach Katrin , Ghosh Somadri , Oburoglu Leal , Falqués-Costa Antoni , Bellamkonda Kishan , Ehinger Mats , Peña-Martínez Pablo , Puente-Moncada Noelia , Lilljebjörn Henrik , Cammenga Jörg , Pronk Cornelis Jan , Lazarevic Vladimir , Fioretos Thoas , Hagström-Andersson Anna K. , Woods Niels-Bjarne , Järås Marcus
Published: July 2023

Acute myeloid leukemia (AML) is initiated and propagated by leukemia stem cells (LSCs), a self-renewing population of leukemia cells responsible for therapy resistance. Hence, there is an urgent need to identify new therapeutic opportunities targeting LSCs. Here, we performed an in vivo CRISPR knockout screen to identify potential therapeutic targets by interrogating cell surface dependencies of LSCs. The facilitated glucose transporter type 1 (GLUT1) emerged as a critical in vivo metabolic dependency for LSCs in a murine MLL::AF9–driven model of AML. GLUT1 disruption by genetic ablation or pharmacological inhibition led to suppression of leukemia progression and improved survival of mice that received transplantation with LSCs. Metabolic profiling revealed that Glut1 inhibition suppressed glycolysis, decreased levels of tricarboxylic acid cycle intermediates and increased the levels of amino acids. This metabolic reprogramming was accompanied by an increase in autophagic activity and apoptosis. Moreover, Glut1 disruption caused transcriptional, morphological, and immunophenotypic changes, consistent with differentiation of AML cells. Notably, dual inhibition of GLUT1 and oxidative phosphorylation (OXPHOS) exhibited synergistic antileukemic effects in the majority of tested primary AML patient samples through restraining of their metabolic plasticity. In particular, RUNX1-mutated primary leukemia cells displayed striking sensitivity to the combination treatment compared with normal CD34+ bone marrow and cord blood cells. Collectively, our study reveals a GLUT1 dependency of murine LSCs in the bone marrow microenvironment and demonstrates that dual inhibition of GLUT1 and OXPHOS is a promising therapeutic approach for AML.
MRI features of idiopathic intracranial hypertension are not prognostic of visual and headache outcome
Authors: Bsteh Gabriel , Marik Wolfgang , Krajnc Nik , Macher Stefan , Mitsch Christoph , Pruckner Philip , Novak Klaus , Wöber Christian , Pemp Berthold
Published: July 2023

Background

In idiopathic intracranial hypertension (IIH), certain MRI features are promising diagnostic markers, but whether these have prognostic value is currently unknown.

Methods

We included patients from the Vienna-Idiopathic-Intracranial-Hypertension (VIIH) database with IIH according to Friedman criteria and cranial MRI performed at diagnosis. Presence of empty sella (ES), perioptic subarachnoid space distension (POSD) with or without optic nerve tortuosity (ONT), posterior globe flattening (PGF) and transverse sinus stenosis (TSS) was assessed and multivariable regression models regarding visual outcome (persistent visual impairment/visual worsening) and headache outcome (headache improvement/freedom of headache) were fitted.

Results

We included 84 IIH patients (88.1% female, mean age 33.5 years, median body mass index 33.7). At baseline, visual impairment was present in 70.2% and headache in 84.5% (54.8% chronic). Persistent visual impairment occurred in 58.3%, visual worsening in 13.1%, headache improvement was achieved in 83.8%, freedom of headache in 26.2%.

At least one MRI feature was found in 78.6% and 60.0% had ≥3 features with POSD most frequent (64.3%) followed by TSS (60.0%), ONT (46.4%), ES (44.0%) and PGF (23.8%).

In multivariable models, there was no association of any single MRI feature or their number with visual impairment, visual worsening, headache improvement or freedom.

Visual impairment at baseline predicted persistent visual impairment (odds ratio 6.3, p<0.001), but not visual worsening. Chronic headache at baseline was significantly associated with lower likelihood of headache freedom (odds ratio 0.48, p=0.013), but not with headache improvement.

Conclusions

MRI features of IIH are neither prognostic of visual nor headache outcome.
StackTTCA: a stacking ensemble learning-based framework for accurate and high-throughput identification of tumor T cell antigens
Authors: Charoenkwan Phasit , Schaduangrat Nalini , Shoombuatong Watshara
Published: July 2023

Background

The identification of tumor T cell antigens (TTCAs) is crucial for providing insights into their functional mechanisms and utilizing their potential in anticancer vaccines development. In this context, TTCAs are highly promising. Meanwhile, experimental technologies for discovering and characterizing new TTCAs are expensive and time-consuming. Although many machine learning (ML)-based models have been proposed for identifying new TTCAs, there is still a need to develop a robust model that can achieve higher rates of accuracy and precision.

Results

In this study, we propose a new stacking ensemble learning-based framework, termed StackTTCA, for accurate and large-scale identification of TTCAs. Firstly, we constructed 156 different baseline models by using 12 different feature encoding schemes and 13 popular ML algorithms. Secondly, these baseline models were trained and employed to create a new probabilistic feature vector. Finally, the optimal probabilistic feature vector was determined based the feature selection strategy and then used for the construction of our stacked model. Comparative benchmarking experiments indicated that StackTTCA clearly outperformed several ML classifiers and the existing methods in terms of the independent test, with an accuracy of 0.932 and Matthew's correlation coefficient of 0.866.

Conclusions

In summary, the proposed stacking ensemble learning-based framework of StackTTCA could help to precisely and rapidly identify true TTCAs for follow-up experimental verification. In addition, we developed an online web server (http://2pmlab.camt.cmu.ac.th/StackTTCA) to maximize user convenience for high-throughput screening of novel TTCAs.
Prevalence of tuberculosis and associated factors among presumptive TB refugees residing in refugee camps in Ethiopia
Authors: Meaza Abyot , Yenew Bazezew , Amare Miskir , Alemu Ayinalem , Hailu Michael , Gamtesa Dinka Fikadu , Kaba Mirgissa , Medhin Girmay , Ameni Gobena , Gumi Balako
Published: July 2023

Background

Tuberculosis (TB) causes significant morbidity and mortality in refugee populations. Although Ethiopia is the third largest refugee-hosting country in Africa, there is limited published data on the prevalence and associated factors of TB in refugees. The objective of this study was to estimate the prevalence of bacteriologically confirmed pulmonary TB (PTB) and explore associated factors in presumptive TB refugees residing in refugee camps in Ethiopia.

Methods

A facility-based cross-sectional study was conducted between February and August 2021 in refugee camps in Ethiopia. Data were collected consecutively from 610 presumptive TB refugees who attended for TB diagnosis in selected refugee camp clinics in Ethiopia. A pre-tested questionnaire was used to collect data, and sputum samples were collected from eligible study participants. The Xpert Mycobacterium tuberculosis (MTB)/Rifampicin (RIF) assay was performed on direct spot sputum samples, whereas morning sputum samples were processed and inoculated for bacteriological culture using Mycobacterium Growth Indicator Tube (MGIT) and Lowsteen Jensen (LJ) methods. The statistical software package (STATA version 14) was used for statistical analysis. A logistic regression model was used for the evaluation of the association between bacteriologically confirmed TB cases and the associated factors. Descriptive statistics were used for the expression of the results, and statistical significance was assumed at p < 0.05.

Results

Out of 610 study participants, more than half were female (54.9%), and the mean age was 37.9 years (SD, 16.64). The prevalence of bacteriologically confirmed PTB cases among refugees residing in refugee camps in Ethiopia was 13.3% (95% CI, 10.7–16.2%) using the Xpert MTB/RIF assay and/or culture. MTB was detected in 12.8% (95% CI, 10.2–15.7%) of the individuals using the Xpert MTB/RIF assay, while culture positivity was observed in 11.6% (95% CI, 9.2–14.5%). The multivariable logistic regression model showed South Sudan origins (adjusted odds ratio, AOR = 7.74; 95% CI, 3.05–19.64), age group, 19–38 years old (AOR = 5.66; 95% CI, 1.86–17.28), and male sex (AOR = 2.69; 95% CI, 1.58–4.56) were significantly associated with the bacteriologically confirmed TB among refugees residing in refugee camps in Ethiopia.

Conclusion

The prevalence of bacteriologically confirmed PTB among presumptive TB refugees residing in refugee camps in Ethiopia was high. The national TB program should strengthen TB prevention and control activities in the refugee camps of Ethiopia. Moreover, an active TB survey program should be implemented in refugee camps in Ethiopia.
Assessing volumetric brain differences in migraine and depression patients: a UK Biobank study
Authors: Affatato Oreste , Dahlén Amelia D. , Rukh Gull , Schiöth Helgi B. , Mwinyi Jessica
Published: July 2023

Background

Migraine and depression are two of the most common and debilitating conditions. From a clinical perspective, they are mostly prevalent in women and manifest a partial overlapping symptomatology. Despite the high level of comorbidity, previous studies hardly investigated possible common patterns in brain volumetric differences compared to healthy subjects. Therefore, the current study investigates and compares the volumetric difference patterns in sub-cortical regions between participants with migraine or depression in comparison to healthy controls.

Methods

The study included data from 43 930 participants of the large UK Biobank cohort. Using official ICD10 diagnosis, we selected 712 participants with migraine, 1 853 with depression and 23 942 healthy controls. We estimated mean volumetric difference between the groups for the different sub-cortical brain regions using generalized linear regression models, conditioning the model within the levels of BMI, age, sex, ethnical background, diastolic blood pressure, current tobacco smoking, alcohol intake frequency, Assessment Centre, Indices of Multiple Deprivation, comorbidities and total brain volume.

Results

We detected larger overall volume of the caudate (mean difference: 66, 95% CI [-3, 135]) and of the thalamus (mean difference: 103 mm3, 95% CI [-2, 208]) in migraineurs than healthy controls. We also observed that individuals with depression appear to have also larger overall (mean difference: 47 mm3, 95% CI [-7, 100]) and gray matter (mean difference: 49 mm3, 95% CI [2, 95]) putamen volumes than healthy controls, as well as larger amygdala volume (mean difference: 17 mm3, 95% CI [-7, 40]).

Conclusion

Migraineurs manifested larger overall volumes at the level of the nucleus caudate and of the thalamus, which might imply abnormal pain modulation and increased migraine susceptibility. Larger amygdala and putamen volumes in participants with depression than controls might be due to increased neuronal activity in these regions.
Exploratory structural equation modeling: a streamlined step by step approach using the R Project software
Authors: Prokofieva Maria , Zarate Daniel , Parker Alex , Palikara Olympia , Stavropoulos Vasileios
Published: July 2023

Confirmatory Factor Analysis (CFA) has been a popular yet limited approach to assessing latent factor structures. Despite items rarely loading exclusively on one latent factor in multifactorial scales, CFA assumes all indicators/items should load uniquely on their allocated latent dimensions. To address this weakness, Exploratory Structural Equation Modeling (ESEM) combines exploratory factor analyses (EFA) and CFA procedures, allowing cross-loadings to occur when assessing hypothesized models. Although such advantages have enhanced ESEM popularity, its adoption is often limited by software rigidity and complex coding difficulties. To address these obstacles, the current tutorial presents a streamlined, step-by-step approach using the open-source software R while providing both R and Mplus ESEM syntax. The tutorial demonstrates the sequence of the ESEM stages by examining the frequently debated Strengths and Difficulties Questionnaire (SDQ) factor structure, using openly accessible data from the Longitudinal Study of Australian Children (LSAC). As ESEM may allow a better understanding of the complex associations in multidimensional scales, this tutorial may optimize the epidemiological and clinical assessment of common yet multifaceted psychiatric presentations.
Study protocol for type II hybrid implementation-effectiveness trial of strategies for depression care task-sharing in community health stations in Vietnam: DEP Project
Authors: Ngo Victoria Khanh , Vu Thinh Toan , Vu Quan Anh , McBain Ryan , Yu Gary , Nguyen Ngoc Bao , Mai Thi Nguyen Hien , Ho Hien Thi , Van Hoang Minh
Published: July 2023

Background

It is not clear what the most effective implementation strategies are for supporting the enactment and sustainment of depression care services in primary care settings. This type-II Hybrid Implementation-Effectiveness study will compare the effectiveness of three system-level strategies for implementing depression care programs at 36 community health stations (CHSs) across 2 provinces in Vietnam.

Methods

In this cluster-randomized controlled trial, CHSs will be randomly assigned to one of three implementation conditions: (1) Usual Implementation (UI), which consists of training workshops and toolkits; (2) Enhanced Supervision (ES), which includes UI combined with bi-weekly/monthly supervision; and (3) Community-Engaged Learning Collaborative (CELC), which includes all components of ES, combined with bi-monthly province-wide learning collaborative meetings, during which cross-site learning and continuous quality improvement (QI) strategies are implemented to achieve better implementation outcomes. The primary outcome will be measured based on the RE-AIM framework (Reach, Effectiveness, Adoption, Implementation quality, and Maintenance) using indicators on implementation, provider, and client factors. The secondary outcome examines factors associated with barriers and facilitators of quality implementation, while the tertiary outcome evaluates the incremental cost-effectiveness ratio of services provided in the ES and CELC conditions, relative to UI condition for depression care. A total of 1,296 clients receiving depression care at CHSs will be surveyed at baseline and 6-month follow-up to assess mental health and psychosocial outcomes (e.g., depression and anxiety severity, health function, quality of life). Additionally, 180 CHS staff and 180 non-CHS staff will complete pre- and post-training evaluation and surveys at baseline, 6, 12, and 24 months.

Discussion

We hypothesize that the additional implementation supports will make mental health service implementation superior in the ES and CELC arms compared to the UI arm. The findings of this project could identify effective implementation models and assess the added value of specific QI strategies for implementing depression care in primary care settings in Vietnam, with implications and recommendations for other low- and middle-income settings. More importantly, this study will provide evidence for key stakeholders and policymakers to consider policies that disseminate, scale up, and advance quality mental health care in Vietnam.

Trial registration

NCT04491045 on Clinicaltrials.gov. Registered July 29, 2020.
Two Listeria monocytogenes outbreaks in a cancer centre: onsite food premises and their potential health risk to patients
Authors: Hobbs J. Leigh , Lee Christina , Thompson Brian , Andrew Adrienne , Navarro Christine , Dubey Vinita , Maki Anne , Kong Adrienne , Griffin Meghan , Chau Kelvin , Murphy Allana M. , Lombos Marina , Majury Anna L. , Gerrie Monica , Szidonya Erin , Chung Jackson , Ozaldin Omar , Patel Toral , Brandon Nicholas , Warshawsky Bryna
Published: July 2023

Background

This report describes two L. monocytogenes outbreak investigations that occurred in March and September of 2018 and that linked illness to a food premises located in an Ontario cancer centre. The cancer centre serves patients from across the province.

Methods

In Ontario, local public health agencies follow up with all reported laboratory-confirmed cases of listeriosis to identify possible sources of disease acquisition and to carry out investigations, including at suspected food premises. The Canadian Food Inspection Agency (CFIA) is notified of any Listeria-positive food product collected in relation to a case. The CFIA traces Listeria-positive product through the food distribution system to identify the contamination source and ensure the implicated manufacturing facility implements corrective measures.

Results

Outbreaks one and two each involved three outbreak-confirmed listeriosis cases. All six cases were considered genetically related by whole genome sequencing (WGS). In both outbreaks, outbreak-confirmed cases reported consuming meals at a food premises located in a cancer centre (food premises A) before illness onset. Various open deli meat samples and, in outbreak two, environmental swabs (primarily from the meat slicer) collected from food premises A were genetically related to the outbreak-confirmed cases. Food premises A closed as a result of the investigations.

Conclusions

When procuring on-site food premises, healthcare facilities and institutions serving individuals with immuno-compromising conditions should consider the potential health risk of foods available to their patient population.
Adherence to antiretroviral and cancer chemotherapy, and associated factors among patients with HIV–cancer co-morbidity at the Uganda Cancer Institute: a cross sectional study
Authors: Achieng Caroline , Bunani Nelson , Kagaayi Joseph , Nuwaha Fred
Published: July 2023

Background

Human Immunodeficiency Virus is a major global public health issue affecting millions of people, and sub-Saharan Africa where Uganda lies is disproportionately affected. There has been an increase in cancer among HIV patients which has resulted into use of co-medications that sometimes affect ART and cancer chemotherapy adherence. We aimed to determine adherence to antiretroviral and cancer chemotherapy and the associated factors among patients with HIV-cancer co-morbidity at the Uganda Cancer Institute.

Methods

We conducted a cross-sectional study among 200 randomly selected adult cancer patients infected with HIV and attending the Uganda cancer institute. Antiretroviral and anti-cancer chemotherapy adherence with associated factors were assessed quantitatively. We collected the data using interviewer administered semi-structured questionnaires. Modified Poisson regression with robust standard errors was used to estimate the prevalence ratios (PR) and its 95% confidence intervals (CI) for the factors associated with adherence to Antiretroviral Therapy (ART) and cancer chemotherapy.

Results

Overall, 54% of the study participants adhered to both ART and chemotherapy, and 55% adhered to ART while 65% adhered to cancer chemotherapy. The mean age of the respondents was 42 (SD ± 11years), and a majority, 61% were males.More than half, 56.5% were married and at least 45% had attained a primary level of education. Patients with good adherence to antiretroviral therapy and chemotherapy were 54%. No knowledge of cancer stage (PR = 0.4, 95% CI = 0.3–0.6, P < 0.0001), having an AIDS defining cancer (PR = 0.7, 95% CI = 0.5–0.9, P = 0.005), ART clinic in district not near Uganda Cancer Institute (PR = 0.7,95% CI = 0.8-1.0, P = 0.027) and affordability of cancer chemotherapy (PR = 1.4, 95% CI = 1.0-1.9, P = 0.037) were associated with adherence to both ART and cancer chemotherapy.

Conclusion

Adherence to both ART and cancer chemotherapy was low. Factors significantly associated with adherence were: knowledge of the cancer stage by the patient, the type of cancer diagnosis, source of ART and affordability/ availability of medications. There is a need to provide information on the stage of cancer and adherence counseling to patients. Furthermore, Integration of HIV- cancer care will be necessary for efficient and effective care for the patients.
Development of a mammalian cell-based ZZ display system for IgG quantification
Authors: Bao Lingzhi , Yang Aizhen , Liu Ziqing , Ma Jie , Pan Jiajie , Zhu Yi , Tang Ying , Dong Pu , Zhao Guoping , Chen Shaopeng
Published: July 2023

Background

Biological laboratories and companies involved in antibody development need convenient and versatile methods to detect highly active antibodies.

Methods

To develop a mammalian cell-based ZZ display system for antibody quantification, the eukaryotic ZZ-displayed plasmid was constructed and transfected into CHO cells. After screening by flow cytometric sorting, the stable ZZ display cells were incubated with reference IgG and samples with unknown IgG content for 40 min at 4℃, the relative fluorescence intensity of cells was analyzed and the concentration of IgG was calculated.

Results

By investigating the effects of different display-associated genetic elements, a eukaryotic ZZ-displaying plasmid with the highest display efficiency were constructed. After transfection and screening, almost 100% of the cells were able to display the ZZ peptide (designated CHO-ZZ cells). These stable CHO-ZZ cells were able to capture a variety of IgG, including human, rabbit, donkey and even mouse and goat. CHO-ZZ cells could be used to quantify human IgG in the range of approximately 12.5–1000 ng/mL, and to identify high-yielding engineered monoclonal cell lines.

Conclusions

We have established a highly efficient CHO-ZZ display system in this study, which enables the quantification of IgG from various species under physiological conditions. This system offers the advantage of eliminating the need for antibody purification and will contribute to antibody development.
Effect of acupuncture on episodic memory for amnesia-type mild cognitive impairment: study protocol of a multicenter, randomized, controlled trial
Authors: Dai Yalan , Xia Rui , Wang Dan , Li Shuqian , Yuan Xu , Li Xingjie , Liu Jun , Wang Mengyang , Kuang Yuxing , Chen Shangjie
Published: July 2023

Background

Amnesic mild cognitive impairment (aMCI) is the main subtype of mild cognitive impairment (MCI) and has the highest risk of conversion to Alzheimer’s disease (AD) among all MCI subtypes. Episodic memory impairment is the early cognitive impairment of aMCI, which has become an important target for AD prevention. Previous clinical evidence has shown that acupuncture can improve the cognitive ability of MCI patients. This experiment aimed to observe the efficacy and neural mechanism of TiaoshenYizhi acupuncture on the episodic memory of patients with aMCI.

Methods

In this multicenter, parallel-group, double-blind, randomized controlled trial, 360 aMCI participants will be recruited from six subcenters and randomly assigned to the acupuncture group, sham acupuncture group, and control group. The acupuncture group will receive TiaoshenYizhi (TSYZ) acupuncture, the sham acupuncture group will use streitberger sham acupuncture, and the control group will only receive free health education. Participants in the two acupuncture groups will receive real acupuncture treatment or placebo acupuncture three times per week, 24 sessions over 8 consecutive weeks. The primary outcome will be global cognitive ability. Secondary outcomes will be a specific cognitive domain, including episodic memory and execution ability, electroencephalogram, and functional magnetic resonance imaging data. Outcomes will be measured at baseline and the fourth and eighth weeks after randomization. Repeated measurement analysis of variance and a mixed linear model will be used to observe the intervention effect.

Discussion

The protocol will give a detailed procedure to the multicenter clinical trial to further evaluate the efficacy and neural mechanism of TiaoshenYizhi acupuncture on episodic memory in patients with aMCI. From this research, we expect to provide clinical evidence for early aMCI management.

Trial registration

http://www.chictr.org.cn/edit.aspx?pid=142612&htm=4, identifier: ChiCTR2100054009.
Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
Authors: Coad Beth , Joekes Katherine , Rudnicka Alicja , Frost Amy , Openshaw Mark Robert , Tatton-Brown Katrina , Snape Katie
Published: July 2023

Background

The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorous process of interpreting these variants requires multi-disciplinary, highly trained healthcare professionals (HCPs). To meet this training need, we designed two Massive Open Online Courses (MOOCs) for HCPs involved in germline genomic testing pathways: Fundamental Principles (FP) and Inherited Cancer Susceptibility (ICS).

Methods

An evaluation cohort of HCPs involved in genomic testing were recruited, with additional data also available from anonymous self-registered learners to both MOOCs. Pre- and post-course surveys and in-course quizzes were used to assess learner satisfaction, confidence and knowledge gained in variant interpretation. In addition, granular feedback was collected on the complexity of the MOOCs to iteratively improve the resources.

Results

A cohort of 92 genomics HCPs, including clinical scientists, and non-genomics clinicians (clinicians working in specialties outside of genomics) participated in the evaluation cohort. Between baseline and follow-up, total confidence scores improved by 38% (15.2/40.0) (95% confidence interval [CI] 12.4–18.0) for the FP MOOC and 54% (18.9/34.9) (95%CI 15.5–22.5) for the ICS MOOC (p < 0.0001 for both). Of those who completed the knowledge assessment through six summative variant classification quizzes (V1–6), a mean of 79% of respondents classified the variants such that correct clinical management would be undertaken (FP: V1 (73/90) 81% Likely Pathogenic/Pathogenic [LP/P]; V2 (55/78) 70% VUS; V3 (59/75) 79% LP/P; V4 (62/72) 86% LP/LP. ICS: V5 (66/91) 73% VUS; V6 (76/88) 86% LP/P). A non-statistically significant higher attrition rate was seen amongst the non-genomics workforce when compared to genomics specialists for both courses. More participants from the non-genomics workforce rated the material as “Too Complex” (FP n = 2/7 [29%], ICS n = 1/5 [20%]) when compared to the specialist genomics workforce (FP n = 1/43 [2%], ICS n = 0/35 [0%]).

Conclusions

After completing one or both MOOCs, self-reported confidence in genomic variant interpretation significantly increased, and most respondents could correctly classify variants such that appropriate clinical management would be instigated. Genomics HCPs reported higher satisfaction with the level of content than the non-genomics clinicians. The MOOCs provided foundational knowledge and improved learner confidence, but should be adapted for different workforces to maximise the benefit for clinicians working in specialties outside of genetics.
The accuracy of artificial intelligence used for non-melanoma skin cancer diagnoses: a meta-analysis
Authors: Kuo Kuang Ming , Talley Paul C. , Chang Chao-Sheng
Published: July 2023

Background

With rising incidence of skin cancer and relatively increased mortality rates, an improved diagnosis of such a potentially fatal disease is of vital importance. Although frequently curable, it nevertheless places a considerable burden upon healthcare systems. Among the various types of skin cancers, non-melanoma skin cancer is most prevalent. Despite such prevalence and its associated cost, scant proof concerning the diagnostic accuracy via Artificial Intelligence (AI) for non-melanoma skin cancer exists. This study meta-analyzes the diagnostic test accuracy of AI used to diagnose non-melanoma forms of skin cancer, and it identifies potential covariates that account for heterogeneity between extant studies.

Methods

Various electronic databases (Scopus, PubMed, ScienceDirect, SpringerLink, and Dimensions) were examined to discern eligible studies beginning from March 2022. Those AI studies predictive of non-melanoma skin cancer were included. Summary estimates of sensitivity, specificity, and area under receiver operating characteristic curves were used to evaluate diagnostic accuracy. The revised Quality Assessment of Diagnostic Studies served to assess any risk of bias.

Results

A literature search produced 39 eligible articles for meta-analysis. The summary sensitivity, specificity, and area under receiver operating characteristic curve of AI for diagnosing non-melanoma skin cancer was 0.78, 0.98, & 0.97, respectively. Skin cancer typology, data sources, cross validation, ensemble models, types of techniques, pre-trained models, and image augmentation became significant covariates accounting for heterogeneity in terms of both sensitivity and/or specificity.

Conclusions

Meta-analysis results revealed that AI is predictive of non-melanoma with an acceptable performance, but sensitivity may become improved. Further, ensemble models and pre-trained models are employable to improve true positive rating.
Five different ways of reasoning: Tanzanian healthcare workers’ ideas about how to improve HIV prevention among same-sex attracted men
Authors: Ishungisa Alexander Mwijage , Mmbaga Elia John , Leshabari Melkizedeck Thomas , Tersbøl Britt Pinkowski , Moen Kåre
Published: July 2023

Background

Same-sex attracted men in Tanzania and globally carry a disproportionate burden of HIV. Drawing on qualitative research, this article explores healthcare providers’ ideas and recommendations regarding how to improve HIV prevention among same-sex attracted men.

Methods

We carried out a qualitative study among healthcare workers in the cities of Dar es Salaam and Tanga in Tanzania between August 2018 and October 2019. Data were collected using qualitative methods of data collection, specifically in-depth interviews, focus group discussions, and participant observation. Study participants were recruited through a purposive sampling strategy that aimed to ensure variation in age, education, and work experience. Forty-eight interviews with 24 healthcare workers, six focus group discussions, and participant observation were conducted. A total of 64 persons participated in the study.

Results

This paper describes five different “ways of reasoning” that were identified among healthcare workers regarding how to strengthen HIV prevention among same-sex attracted men. One held that punitive measures should be taken to prevent HIV transmission, another that health services needed to become more friendly towards men who have sex with men, a third that healthcare workers should reach out to provide more education to this population, a fourth called for strengthened collaboration between healthcare providers and same-sex attracted men in healthcare delivery, and the fifth proposed that activistic efforts be taken to remove structural barriers for same-sex attracted men to access healthcare.

Conclusion

When reflecting on what is needed to strengthen HIV prevention among men who have sex with men, healthcare workers described six different ideas. One was that restrictive and punitive measures ought to be taken to prevent HIV transmission through same-sex sex. The remaining five promoted understanding of and support for same-sex attracted men. They prescribed more healthcare education, measures to improve attitudes among healthcare workers, healthcare delivery with user involvement, and political action to achieve law reform. Finally, some study participants raised concerns about the implementation of the national comprehensive package for key populations.
First evidence of schmallenberg virus infection in southern Italy
Authors: Ferrara Gianmarco , Wernike Kerstin , Iovane Giuseppe , Pagnini Ugo , Montagnaro Serena
Published: July 2023

Background

Schmallenberg virus (SBV) is a vector-borne pathogen that mainly affects ruminants. Schmallenberg disease has never been described in southern Italy, although this geographic area displays climatic features suitable for Culicoides biting midges, which transmit the pathogen. An observational study was carried out in the Campania region in 2020 to evaluate the seroprevalence in cattle and water buffalo as well as to identify the risk factors involved in the distribution of SBV.

Results

Relatively high seroprevalences of 38.2% (cattle) and 43% (water buffalo) were found by using a commercial SBV ELISA, which is comparable to the prevalence obtained in other countries under post-epidemic conditions. A virus neutralization assay performed on positive samples showed high titers in a large percentage of animals which is assumed to indicate recent exposure. Bivariate analysis of several variables revealed some environmental factors associated with higher seroprevalence, such as mean annual temperature, distance from the coast, and altitude. Multivariate logistic regression confirmed the statistical association only for mean annual temperature, that was found to be the main factor responsible for the distribution of the virus in southern Italy. In addition, molecular diagnosis attempts were performed on serum samples and resulted in the detection of SBV RNA in two herds and six animals.

Conclusions

In this work we have demonstrated the circulation of SBV in southern Italy using both molecular and serological assays. This study emphasized the essential role of monitoring in preventing the re-emergence of vector-borne diseases in ruminants.
Association of sodium-glucose cotransporter 2 inhibitors with post-discharge outcomes in patients with acute heart failure with type 2 diabetes: a cohort study
Authors: Park Sohee , Jeong Han Eol , Lee Hyesung , You Seng Chan , Shin Ju-Young
Published: July 2023

Background

Given the cumulative evidence on the effectiveness of sodium-glucose cotransporter 2 inhibitors (SGLT2is) on chronic heart failure, demand is emerging for further information on their effects in patients who are hospitalized for acute heart failure. However, there is still limited evidence about the class effect of SGLT2is on acute heart failure. We investigated whether initiating treatment with SGLT2is after an episode of acute heart failure reduces the risks of post-discharge heart failure readmission or cardiovascular mortality among patients with type 2 diabetes.

Methods

A retrospective cohort study was conducted in a cohort of patients with type 2 diabetes who hospitalized for heart failure, using Korean Health Insurance Review & Assessment database (2015–2020). The exposure was defined as initiation of SGLT2is during hospitalization or at discharge. We assessed hazards of post-discharge heart failure readmission and cardiovascular death at 1-year, and 30-, 60-, and 90-day from the date of discharge in the SGLT2is users and non-users. Cox proportional hazards models with propensity score-based inverse probability of treatment weighting were used to estimate hazard ratios and 95% confidence intervals.

Results

Among 56,343 patients with type 2 diabetes hospitalized for heart failure, 29,290 patients were included in the study cohort (mean [SD] age, 74.1 [10.8] years; 56.1% women); 818 patients (2.8%) were prescribed SGLT2is during index hospitalization or at discharge. Patients with a prescription for SGLT2i vs. those without prescription had lower rates of heart failure readmission or cardiovascular death at 1 year (22.4% vs. 25.3%; adjusted hazard ratio, 0.90 [95% confidence interval, 0.87–0.93]), and also at 30 days (7.0% vs. 7.7%%; 0.74 [0.69–0.79]).

Conclusions

Among patients with type 2 diabetes, initiating SGLT2i treatment after an episode of acute heart failure was significantly associated with a reduced combined risk of heart failure readmission and cardiovascular mortality in a nationwide cohort reflecting routine clinical practice.
Inequalities in the burden of non-communicable diseases across European countries: a systematic analysis of the Global Burden of Disease 2019 study
Authors: Andrade Carlos Alexandre Soares , Mahrouseh Nour , Gabrani Jonila , Charalampous Periklis , Cuschieri Sarah , Grad Diana Alecsandra , Unim Brigid , Mechili Enkeleint A. , Chen-Xu José , Devleesschauwer Brecht , Isola Gaetano , von der Lippe Elena , Baravelli Carl Michael , Fischer Florian , Weye Nanna , Balaj Mirza , Haneef Romana , Economou Mary , Haagsma Juanita A. , Varga Orsolya
Published: July 2023

Background

Although overall health status in the last decades improved, health inequalities due to non-communicable diseases (NCDs) persist between and within European countries. There is a lack of studies giving insights into health inequalities related to NCDs in the European Economic Area (EEA) countries. Therefore, the aim of the present study was to quantify health inequalities in age-standardized disability adjusted life years (DALY) rates for NCDs overall and 12 specific NCDs across 30 EEA countries between 1990 and 2019. Also, this study aimed to determine trends in health inequalities and to identify those NCDs where the inequalities were the highest.

Methods

DALY rate ratios were calculated to determine and compare inequalities between the 30 EEA countries, by sex, and across time. Annual rate of change was used to determine the differences in DALY rate between 1990 and 2019 for males and females. The Gini Coefficient (GC) was used to measure the DALY rate inequalities across countries, and the Slope Index of Inequality (SII) to estimate the average absolute difference in DALY rate across countries.

Results

Between 1990 and 2019, there was an overall declining trend in DALY rate, with larger declines among females compared to males. Among EEA countries, in 2019 the highest NCD DALY rate for both sexes were observed for Bulgaria. For the whole period, the highest DALY rate ratios were identified for digestive diseases, diabetes and kidney diseases, substance use disorders, cardiovascular diseases (CVD), and chronic respiratory diseases – representing the highest inequality between countries. In 2019, the highest DALY rate ratio was found between Bulgaria and Iceland for males. GC and SII indicated that the highest inequalities were due to CVD for most of the study period – however, overall levels of inequality were low.

Conclusions

The inequality in level 1 NCDs DALYs rate is relatively low among all the countries. CVDs, digestive diseases, diabetes and kidney diseases, substance use disorders, and chronic respiratory diseases are the NCDs that exhibit higher levels of inequality across countries in the EEA. This might be mitigated by applying tailored preventive measures and enabling healthcare access.
Evaluation of multiple biological indicators for the combined diagnosis of metastases from colorectal cancer—a retrospective study based on 1163 patients
Authors: Chen Bangquan , Zhou Jiajie , Ma Yue , Sun Qiannan , Ren Jun , Wang Daorong
Published: July 2023

Objective

This study aimed to investigate the efficacy of inflammatory markers (NLR, PLR) combined with tumor markers (CA50, CA199, CEA) in the diagnosis of colorectal cancer metastasis by a single-center retrospective study.

Methods

A total of 1163 CRC patients who received treatments in our hospital from January 2017 to December 2021 were enrolled retrospectively. Patients were grouped according to the absence of metastasis. The separate efficacy of tumor markers, NLR and PLR, was evaluated in the diagnosis of metastasis of colorectal cancer using ROC curve analysis, and their optimal cut-off values for distant metastases from colorectal cancer were determined. The area under the ROC curve (AUC) of the tumor markers combined with NLR and PLR was calculated by binary logistic regression analysis to evaluate the diagnostic efficacy of metastasis of colorectal cancer. In addition, patients were divided into two groups of high and low levels according to the optimal cut-off values, and the effects of NLR, PLR, and tumor markers on distant metastasis of colorectal cancer were evaluated using multiple logistic regression analysis.

Result

The abnormal rate of CA50, CA199, CEA, NLR, and PLR in two subgroupsIt was statistically significant (P < 0.05). After AUC testifying, the diagnostic efficacy of NLR and PLR was equivalent to that of tumor marker (P > 0.05). In assessment of liver metastasis, peritoneal metastasis, and multiple metastasis, AUC of NLR and PLR with CRC-specific tumor markers showed higher predictive efficacy than AUC without combined NLR nor PLR. The CA50, CA199, CEA, PLR, and NLR were proved independently associated with metastasis using multiple logistic regression analysis (P < 0.05).

Conclusion

NLR and PLR are noted tumor markers of colorectal cancer, which are characterized by noninvasive, high diagnostic efficacy, easy availability, and low cost. They can be combined with traditional tumor markers to evaluate and diagnose colorectal cancer metastasis by clinicians.
Quality of vital event data for infant mortality estimation in prospective, population-based studies: an analysis of secondary data from Asia, Africa, and Latin America
Authors: Erchick Daniel J. , Subedi Seema , Verhulst Andrea , Guillot Michel , Adair Linda S. , Barros Aluísio J. D. , Chasekwa Bernard , Christian Parul , da Silva Bruna Gonçalves C. , Silveira Mariângela F. , Hallal Pedro C. , Humphrey Jean H. , Huybregts Lieven , Kariuki Simon , Khatry Subarna K. , Lachat Carl , Matijasevich Alicia , McElroy Peter D. , Menezes Ana Maria B. , Mullany Luke C. , Perez Tita Lorna L. , Phillips-Howard Penelope A. , Roberfroid Dominique , Santos Iná S. , ter Kuile Feiko O. , Ravilla Thulasiraj D. , Tielsch James M. , Wu Lee S. F. , Katz Joanne
Published: July 2023

Introduction

Infant and neonatal mortality estimates are typically derived from retrospective birth histories collected through surveys in countries with unreliable civil registration and vital statistics systems. Yet such data are subject to biases, including under-reporting of deaths and age misreporting, which impact mortality estimates. Prospective population-based cohort studies are an underutilized data source for mortality estimation that may offer strengths that avoid biases.

Methods

We conducted a secondary analysis of data from the Child Health Epidemiology Reference Group, including 11 population-based pregnancy or birth cohort studies, to evaluate the appropriateness of vital event data for mortality estimation. Analyses were descriptive, summarizing study designs, populations, protocols, and internal checks to assess their impact on data quality. We calculated infant and neonatal morality rates and compared patterns with Demographic and Health Survey (DHS) data.

Results

Studies yielded 71,760 pregnant women and 85,095 live births. Specific field protocols, especially pregnancy enrollment, limited exclusion criteria, and frequent follow-up visits after delivery, led to higher birth outcome ascertainment and fewer missing deaths. Most studies had low follow-up loss in pregnancy and the first month with little evidence of date heaping. Among studies in Asia and Latin America, neonatal mortality rates (NMR) were similar to DHS, while several studies in Sub-Saharan Africa had lower NMRs than DHS. Infant mortality varied by study and region between sources.

Conclusions

Prospective, population-based cohort studies following rigorous protocols can yield high-quality vital event data to improve characterization of detailed mortality patterns of infants in low- and middle-income countries, especially in the early neonatal period where mortality risk is highest and changes rapidly.