bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adherence to Anti-Epileptic Drugs and Self-reported Availability and Affordability of the Drugs in Addis Ababa, Ethiopia
Authors: Shawel Bethlehem , Berhane Yemane 
Published: December 2024

AbstractBackgroundAnti-epileptic drugs (AEDs) are the primary therapeutic mode to control seizures in patients with epilepsy. Adherence to the medications is critical to achieving the goals of epilepsy therapy. However, the cost of the drugs and interrupted availability of AEDs contribute to non-adherence to epilepsy treatment. Therefore, this study aimed to assess AED adherence and its association with self-reported drug availability and affordability.ObjectiveTo assess whether self-reported availability and affordability of Antiepileptic drugs affect drug adherence among Epileptic Patients at Eka Kotebe General Hospital, Addis Ababa, Ethiopia, from January 2023 to March 2023.MethodsA hospital-based analytical cross-sectional study was conducted among 357 epileptic patients using the Consecutive sampling method in Eka Kotebe General Hospital, Addis Ababa, Ethiopia. AED adherence was measured using a self-report 3items questionnaire focusing on medication use patterns of patients from their last visit to the current visit. Statistical packages for Social Sciences 26.0 version statistical software cleaned, coded and analyzed the collected data. Binary logistic regression was fitted, and P-values less than 0.05 were considered to have statistical significance.ResultThe prevalence of AED adherence was 55.2% with 95% CI (50.1%; 60.2%). About two-thirds (61.3%) of patients in this study had limited access to the AEDs or could not afford the medications. Self-reported availability of AEDs (AOR=2.04, 95% CI=1.03, 4.03) was significantly associated with AED adherence. Self-reported affordability of AEDs was associated with AED adherence (COR=1.59, CI=1.04, 2.42, P-Value=0.031) in the Bivariate logistic regression analysis; however, when adjusted for other covariates in the multivariable logistic regression, no significant association was observed (p=0.730).Conclusion and RecommendationOnly about half of the epileptic patients adhered to AEDs at Eka Kotebe General Hospital. Self-reported availability of AEDs was an essential factor. Improving access to AEDs is critical to improving adherence and management of epilepsy.
Evaluating the Concordance between International Classification of Diseases, Tenth Revision Code and Stroke Severity as Measured by the National Institutes of Health Stroke Scale
Authors: Taha Mohamed , Habib Mamoon , Torres Victor Lomachinsky , Hadar Peter , Newhouse Joseph P , Schwamm Lee H. , Blacker Deborah , Moura Lidia MVR 
Published: December 2024

AbstractBackgroundThe National Institutes of Health Stroke Scale (NIHSS) scores have been used to evaluate Acute Ischemic Stroke (AIS) severity in clinical settings. Through the International Classification of Diseases, Tenth Revision Code (ICD-10), documentation of NIHSS scores has been made possible for administrative purposes and has since been increasingly adopted in insurance claims. Per CMS guidelines, the stroke ICD-10 diagnosis code must be documented by the treating physician, but ICD-10 NIHSS scores can be documented by any healthcare provider involved in the patient’s care. Accuracy of the administratively collected NIHSS compared to expert clinical evaluation as documented in the Paul Coverdell registry is however still uncertain.MethodsLeveraging a linked dataset comprised of the Paul Coverdell National Acute Stroke Program (PCNASP) clinical registry and probabilistically matched individuals on Medicare Claims data, we sampled patients aged 65 and above admitted for AIS across nine states, from 2016 to 2019. We excluded those lacking documentation for either clinical or ICD-10 based NIHSS scores. We then examined score concordance from both databases and measured discordance as the absolute difference between the PCNASP and ICD-10-based NIHSS scores.ResultsAmong 66,837 matched patients, mean NIHSS scores for PCNASP and Medicare ICD-10 were 7.26 (95% CI: 7.20 – 7.32) and 7.40 (95% CI: 7.34 – 7.46), respectively. Concordance between the two scores was high as indicated by an intraclass correlation coefficient of 0.93.ConclusionThe high concordance between clinical and ICD-10 NIHSS scores highlights the latter’s potential as measure of stroke severity derived from structured claims data.
Generation of realistic virtual adult populations using a model-based copula approach
Authors: Guo Yuchen , Guo Tingjie , Knibbe Catherijne A.J. , Zwep Laura B. , van Hasselt J.G. Coen 
Published: December 2024

AbstractIncorporating realistic sets of patient-associated covariates, i.e., virtual populations, in pharmacometric simulation workflows is essential to obtain realistic model predictions. Current covariate simulation strategies often omit or simplify dependency structures between covariates. Copula models are multivariate distribution functions suitable to capture dependency structures between covariates with improved performance compared to standard approaches. We aimed to develop and evaluate a copula model for generation of adult virtual populations for 12 patient-associated covariates commonly used in pharmacometric simulations, using the publicly available NHANES database, including sex, race-ethnicity, body weight, albumin, and several biochemical variables related to organ function. A multivariate (vine) copula was constructed from bivariate relationships in a stepwise fashion. Covariate distributions were well captured for the overall and subgroup populations. Based on the developed copula model, a web application was developed. The developed copula model and associated web application can be used to generate realistic adult virtual populations, ultimately to support model-based clinical trial design or dose optimization strategies.
A dual-mode targeted Nanopore sequencing assay for
comprehensiveSMN1andSMN2variant analysis
Authors: Hall Brad , Alyafei Sawsan , Ramaswamy Sathishkumar , Sinha Shruti , El Naofal Maha , Rabea Fatma , Killinger Bryan J. , Latham Gary J. , Tayoun Ahmad Abou 
Published: December 2024

Abstract

Background
Spinal Muscular Atrophy (SMA) is one of the most common recessive
disorders for which several life-saving treatment options are currently
available. It is essential to establish universal SMA screening and
diagnostic programs using scalable, cost-effective and accessible platforms
to accurately identify all variation types, which is complicated by
homologousSMN1andSMN2genes.

Methods
We developed a dual-mode PCR-based target enrichment that generates 2.7
to 11.2 kb amplicons
spanningSMN1andSMN2genes
for any-length nanopore sequencing. We trained a variant calling model that
utilizes paralog-specific sequences and read-depth data to accurately detect
sequence and copy number variants specific to each gene.

Results
We present results from the development, optimization, and external
evaluation of this assay using over 750 samples, including cell lines,
residual presumed normal blood donors, and patients with
knownSMN1andSMN2genotypes.
The assay detects SNVs, indels, and CNVs with >98% accuracy across all
sample sets, with a highly dynamic throughput range, relatively fast
turnaround time, and limited hands-on-time. Together with the modest capital
investment and consumable costs per sample, this assay can help increase
access to SMA testing in low- and middle-income settings.

Conclusion
We describe a PCR/Nanopore sequencing assay and a customized analysis
pipeline for the comprehensive and accurate detection of variation at the
SMA locus and demonstrate its scalability, cost-effectiveness, and potential
for the universal implementation of SMA screening and diagnostic
programs.

Human Genes
SMN1survival of motor neuron 1, telomeric
HGNC:11117SMN2survival of motor neuron 2,
centromeric HGNC:11118CFTRCF transmembrane
conductance regulator HGNC:1884
Could behaviour change techniques be used to address under-recognition of work-related asthma in primary care? A systematic review
Authors: Walters GI , Foley H , Huntley CC , Naveed A , Nettleton K , Reilly C , Thomas M , Walker C , Wheeler K 
Published: December 2024

AbstractIntroductionWork-related asthma (WRA) is prevalent yet under-recognized in UK primary care. The aim of this systematic review was to identify behaviour change interventions (BCI) intended for use in a primary care setting to identify any chronic disease, that may be used in the context of WRA. The study was registered on the PROPSPERO database (19/04/2023; CRD42023418316) and received no funding.MethodsWe searched CCRCT, Embase, PsychINFO and Ovid MEDLINE databases (1stJanuary 1946 - 6thMarch 2023) for any observational or experimental study which described the development or evaluation (or both) of a BCI for case finding any chronic disease in a primary care setting, aimed at either healthcare professionals or patients or both. We included case reports, series and conference abstracts, and excluded existing reviews and protocols, and abstracts not in English. Abstracts and subsequent full text articles were assessed by two blinded, independent reviewers, and disagreement resolved by consensus. The primary author undertook quality assessments for a variety of methodologies, with quality control by a second reviewer. We undertook narrative synthesis for a variety of outcomes of usability and effectiveness, and for BCI development.Results18 studies (14 papers and 4 conference abstracts) were included following full-text review, from an initial literature search yielding n=768 citations for screening, of which there were 3 randomised control trials, 1 uncontrolled experimental study, 4 primarily qualitative studies and 10 studies employing recognized multi-step BC methodologies. Quality varied depending upon the methodology used. None of the studies were concerned with identification of asthma. BCIs had been developed for facilitating screening programmes (5), implementing guidelines (5) and individual case finding (8). Six studies measured effectiveness, in terms of screening adherence rates, pre- and post-intervention competency, satisfaction and usability, for clinicians, though none measured diagnostic rates.DiscussionSingle and multi-component BCIs have been developed to aid identification of chronic diseases, though not asthma or work-related asthma specifically. Development for the majority has used BC methodologies that involve gathering data from a range of sources, and develop content specific to defined at-risk populations. Nevertheless, such methodologies could be used similarly to develop a BCI for WRA in primary care settings.
Exome Analysis PointsAPOE4Haplotype as Major Risk to Develop Mesoamerican Nephropathy
Authors: Landires Iván , Courville Karen , Pimentel-Peralta Gumercindo , Cumbrera Raúl , Bustamante Norman , Arcos-Burgos Mauricio , Núñez-Samudio Virginia 
Published: December 2024

AbstractThe present study aims to characterize the genetic predisposition for the development of Mesoamerican Nephropathy (MeN) in patients from Panama. A Whole Exome Sequencing approach was performed in patients diagnosed with MeN using the criteria of the Pan American Health Organisation (PAHO), and clinical variables were analysed in all patients and in a group of exposed healthy donors and a group of non-exposed healthy donors. We found a variant located in the APOE gene (rs429358 c.388T>C p.(Cys130Arg), identified in 26% (16/61) of patients with MeN, that corresponds to the APOE4 haplotype. In the group of patients with the APOE4 haplotype we have identified that uric acid is elevated when compared to the group of patients without the haplotype. To the best of our knowledge, this is the first study to find variants in the APOE gene as an important genetic risk factor in patients with MeN. These patients have higher hyperuricemia than patients without the variant, which would indicate an important role of uric acid in the pathophysiology of the disease, suggesting the potential use of uric acid-lowering drugs in these patients.
Genomic Evidence for Extra-Intestinal Foodborne Disease due to Zoonotic Bacteria: A Public Health Risk
Authors: Koudoum Patrice Landry , Founou Luria Leslie , Dimani Brice Davy , Mbossi Aurelia , Zemtsa Jessica Ravanola , Kadima Mukanda Gedeon , Kabamba-Tshikongo Arsène , Asante Jonathan , Keddy Karen H. , Garcia Teresa Estrada , Founou Raspail Carrel 
Published: December 2024

ABSTRACTFoodborne diseases (FBD) constitute a significant worldwide concern with both health and socioeconomic repercussions. FBD predominantly manifest with gastrointestinal symptoms. Nevertheless, extraintestinal infections and symptoms caused by foodborne pathogens are increasingly being reported worldwide. Furthermore, FBD caused by drug resistant bacteria causing both intestinal and extra-intestinal FBD (EIFBD) has further exacerbated their burden. This review (i) summarizes the status of intestinal foodborne pathogens, (ii) delineates the drivers, highlights the (iii) genomic evidence, and (iv) global significance of EIFBD. Understanding the transmission routes and genomic evolution of the principal bacteria causing extra-intestinal FBD is of paramount importance to fully assess the burden of FBD globally, especially in under-resourced regions of Asia, Africa, and Latin America. Acknowledging EIFBD as an integral part of FBD is critical to reach sustainable development. Integrated strategies considering the One Health approach are requisite if FBD are to be controlled, plus to ensure food safety and security.Data summaryThe authors confirm that all supporting data, code and protocols have been provided within the article or through supplementary data files.Impact StatementFoodborne diseases (FBD) present a global health challenge, with the significant health impact and economic costs. Commonly, these illnesses manifest as gastrointestinal troubles; however, there is an alarming increase in reports of foodborne pathogens causing infections beyond the intestinal tract. The complexity of managing FBD is worsened as various pathogens exhibit resistance to antibiotics, a concern applicable to both intestinal and extraintestinal infections.This review serves several critical functions: (i) provide a current overview of the pathogens responsible for gastrointestinal FBD, (ii) examine the underlying factors contributing to the proliferation of these diseases, (iii) present insights gleaned from genomic studies, which enhance our understanding of these pathogens.Grasping the mechanisms of pathogen transmission and genetic evolution is essential to accurately evaluate the worldwide impact of FBD. Acknowledging extraintestinal infections as a significant component of FBD is vital for sustainable progress. Combating FBD effectively necessitates a comprehensive “One Health” approach, which integrates the well-being of humans, animals, and the environment. Such a strategy is imperative not only for controlling FBD but also for ensuring the safety and availability of food resources globally.
Mapping disparities in viral infection rates using highly-multiplexed serology
Authors: Piña Alejandra , Elko Evan A , Caballero Rachel , Mulrow Mary , Quan Dan , Nordstrom Lora , Altin John A , Ladner Jason T 
Published: December 2024

AbstractDespite advancements in medical interventions, the disease burden caused by viral pathogens remains large and highly diverse. This burden includes the wide range of signs and symptoms associated with active viral replication as well as a variety of clinical sequelae of infection. Moreover, there is growing evidence supporting the existence of sex– and ethnicity-based health disparities linked to viral infections and their associated diseases. Despite several well-documented disparities in viral infection rates, our current understanding of virus-associated health disparities remains incomplete. This knowledge gap can be attributed, in part, to limitations of the most commonly used viral detection methodologies, which lack the breadth needed to characterize exposures across the entire virome. Additionally, virus-related health disparities are dynamic and often differ considerably through space and time. In this study, we utilize PepSeq, an approach for highly-multiplexed serology, to broadly assess an individual’s history of viral exposures, and we demonstrate the effectiveness of this approach for detecting infection disparities through a pilot study of 400 adults aged 30-60 in Phoenix, AZ. Using a human virome PepSeq library, we observed expected seroprevalence rates for several common viruses and detected both expected and previously undocumented differences in inferred rates of infection between our Hispanic White and non-Hispanic White individuals.ImportanceOur understanding of population-level virus infection rates and associated health disparities is incomplete. In part, this is because of the high diversity of human-infecting viruses and the limited breadth and sensitivity of traditional approaches for detecting infection events. Here, we demonstrate the potential for modern, highly-multiplexed antibody detection methods to greatly increase our understanding of disparities in rates of infection across subpopulations (e.g., different sexes or ethnic groups). The use of antibodies as biomarkers allows us to detect evidence of past infections over an extended period of time, and our approach for highly-multiplexed serology (PepSeq) allows us to measure antibody responses against 100s of viruses in an efficient and cost-effective manner.
Hospitalisations and deaths due to Ambulatory Care Sensitive Conditions (ACSC) among adults with and without Intellectual Disabilities in Scotland
Authors: Sosenko Filip , Cairns Deborah , Jani Bhautesh D , Ward Laura , Truesdale Maria , Hughes-McCormack Laura , Henderson Angela , Melville Craig 
Published: December 2024

AbstractBackgroundConditions that should be sufficiently managed in primary health care are collectively known as Ambulatory Care Sensitive Conditions (ACSC). The rate of unplanned hospital admissions for ACSC can be regarded as a proxy indicator of how well the primary care system works for a population of interest. We investigate such rates in Scotland, focusing on adults with Intellectual Disabilities (ID) and contrasting them with adults without ID.MethodA population-based retrospective cohort data linkage study of adult respondents to Scotland’s 2011 Census. Self- or proxy-reported ID status from the Census was linked to hospital admissions data and deaths data. The cohort was followed until the end of 2019.ResultsAfter adjusting for different ACSC prevalence in ID and non-ID cohorts, we did not find evidence of there being a higher risk of unplanned ACSC hospitalisation among people with ID. COPD, seizures and epilepsy, influenza and pneumonia were responsible for half of ACSC hospitalisations, regardless of ID status. However, adults with ID had a higher risk of dying due to ACSC than adults without ID.ConclusionsWe conclude that overall, the primary care system in Scotland appears to be similarly effective for adults with ID than for adults without ID. However, the higher risk of dying from ACSC among people with ID needs further research.
Evaluating the Financial Factors Influencing Maternal, Newborn, and Child Health in Africa
Authors: Youssef Er-Rays , Meriem M’dioud 
Published: December 2024

AbstractThe study investigated the impact of healthcare system efficiency on the delivery of maternal, newborn, and child services in Africa. Data Envelopment Analysis and Tobit regression were employed to assess the efficiency of 46 healthcare systems across the continent, utilizing the Variable Returns to Scale model with Input orientation to evaluate technical efficiency. The Tobit method was utilized to explore factors contributing to inefficiency, with inputs variables including hospital, physician, and paramedical staff, and outputs variables encompassing maternal, newborn, and child admissions, cesarean interventions, functional competency, and hospitalization days.Results revealed that only 26% of countries exhibited efficiency, highlighting a significant proportion of 74% with inefficiencies. Financial determinants such as current health expenditures, comprehensive coverage index, and current health expenditure per capita were found to have a negative impact on the efficiency of maternal-child services. These findings underscore a marginal deficiency in technical efficiency within Africa’s healthcare systems, emphasizing the necessity for policymakers to reassess the roles of both human resources and financial dimensions in enhancing healthcare system performance.
Speech Differences between Multiple System Atrophy and Parkinson’s Disease: a Multicenter Study
Authors: Hähnel Tom , Nemitz Anna , Schimming Katja , Berger Luise , Vogel Annemarie , Gruber Doreen , Schnalke Nils , Bräuer Stefan , Falkenburger Björn H. , Gandor Florin 
Published: December 2024

AbstractBackgroundDelineation of Parkinson’s disease (PD) from multiple system atrophy (MSA) can be challenging, especially in early disease stages, and clinical markers are needed for early detection of MSA. Speech characteristics have been studied as digital biomarkers in PD and ataxias, but there is only little data on MSA.ObjectivesTo determine whether speech characteristics can serve as a biomarker to differentiate between MSA and PD.Methods21 MSA patients and 23 PD patients underwent a battery of speech task assessments: text reading, sustained phonation and diadochokinetic tasks. Speech characteristics were extracted using the software Praat.ResultsMSA and PD speech can be described by the factors: “time and pauses”, “harsh voice”, and a factor containing “mixed speech characteristics”. After correcting for MDS-UPDRS III, four parameters and the “time and pause” factor showed significant differences between MSA and PD. MSA could be delineated from PD with Receiver Operator Characteristic Area Under the Curve (ROC-AUC) of 0.89 by a single speech parameter together with MDS-UPDRS III.ConclusionMSA can be differentiated from PD with good accuracy using only MDS-UPDRS III and one speech parameter as predictors. This outlines the importance of speech assessments to delineate MSA from PD to allow for differential diagnosis in movement disorders.