bluuebunny/crossref_metadata_2025_split huggingface dataset:
An equivalence test between features lists, based on the Sorensen–Dice index and the joint frequencies of GO term enrichment
Authors: Flores Pablo , Salicrú Miquel , Sánchez-Pla Alex , Ocaña Jordi 
Published: May 2022

AbstractBackgroundIn integrative bioinformatic analyses, it is of great interest to stablish the equivalence between gene or (more in general) feature lists, up to a given level and in terms of their annotations in the Gene Ontology. The aim of this article is to present an equivalence test based on the proportion of GO terms which are declared as enriched in both lists simultaneously.ResultsOn the basis of these data, the dissimilarity between gene lists is measured by means of the Sorensen–Dice index. We present two flavours of the same test: One of them based on the asymptotic normality of the test statistic and the other based on the bootstrap method.ConclusionsThe accuracy of these tests is studied by means of simulation and their possible interest is illustrated by using them over two real datasets: A collection of gene lists related to cancer and a collection of gene lists related to kidney rejection after transplantation.
Using machine learning to determine the correlation between physiological and environmental parameters and the induction of acute mountain sickness
Authors: Wei Chih-Yuan , Chen Ping-Nan , Lin Shih-Sung , Huang Tsai-Wang , Sun Ling-Chun , Tseng Chun-Wei , Lin Ke-Feng 
Published: May 2022

Abstract
Background
Recent studies on acute mountain sickness (AMS) have used fixed-location and fixed-time measurements of environmental and physiological variable to determine the influence of AMS-associated factors in the human body. This study aims to measure, in real time, environmental conditions and physiological variables of participants in high-altitude regions to develop an AMS risk evaluation model to forecast prospective development of AMS so its onset can be prevented.

Results
Thirty-two participants were recruited, namely 25 men and 7 women, and they hiked from Cuifeng Mountain Forest Park parking lot (altitude: 2300 m) to Wuling (altitude: 3275 m). Regression and classification machine learning analyses were performed on physiological and environmental data, and Lake Louise Acute Mountain Sickness Scores (LLS) to establish an algorithm for AMS risk analysis. The individual R2 coefficients of determination between the LLS and the measured altitude, ambient temperature, atmospheric pressure, relative humidity, climbing speed, heart rate, blood oxygen saturation (SpO2), heart rate variability (HRV), were 0.1, 0.23, 0, 0.24, 0, 0.24, 0.27, and 0.35 respectively; incorporating all aforementioned variables, the R2 coefficient is 0.62. The bagged trees classifier achieved favorable classification results, yielding a model sensitivity, specificity, accuracy, and area under receiver operating characteristic curve of 0.999, 0.994, 0.998, and 1, respectively.

Conclusion
The experiment results indicate the use of machine learning multivariate analysis have higher AMS prediction accuracies than analyses utilizing single varieties. The developed AMS evaluation model can serve as a reference for the future development of wearable devices capable of providing timely warnings of AMS risks to hikers.
Fmr1 exon 14 skipping in late embryonic development of the rat forebrain
Authors: Corrêa-Velloso Juliana C. , Linardi Alessandra M. , Glaser Talita , Velloso Fernando J. , Rivas Maria P. , Leite Renata E P. , Grinberg Lea T. , Ulrich Henning , Akins Michael R. , Chiavegatto Silvana , Haddad Luciana A. 
Published: May 2022

Abstract
Background
Fragile X syndrome, the major cause of inherited intellectual disability among men, is due to deficiency of the synaptic functional regulator FMR1 protein (FMRP), encoded by the FMRP translational regulator 1 (FMR1) gene. FMR1 alternative splicing produces distinct transcripts that may consequently impact FMRP functional roles. In transcripts without exon 14 the translational reading frame is shifted. For deepening current knowledge of the differential expression of Fmr1 exon 14 along the rat nervous system development, we conducted a descriptive study employing quantitative RT-PCR and BLAST of RNA-Seq datasets.

Results
We observed in the rat forebrain progressive decline of total Fmr1 mRNA from E11 to P112 albeit an elevation on P3; and exon-14 skipping in E17–E20 with downregulation of the resulting mRNA. We tested if the reduced detection of messages without exon 14 could be explained by nonsense-mediated mRNA decay (NMD) vulnerability, but knocking down UPF1, a major component of this pathway, did not increase their quantities. Conversely, it significantly decreased FMR1 mRNA having exon 13 joined with either exon 14 or exon 15 site A.

Conclusions
The forebrain in the third embryonic week of the rat development is a period with significant skipping of Fmr1 exon 14. This alternative splicing event chronologically precedes a reduction of total Fmr1 mRNA, suggesting that it may be part of combinatorial mechanisms downregulating the gene’s expression in the late embryonic period. The decay of FMR1 mRNA without exon 14 should be mediated by a pathway different from NMD. Finally, we provide evidence of FMR1 mRNA stabilization by UPF1, likely depending on FMRP.
Factors associated with change over time in quality of life of people with dementia: longitudinal analyses from the MODEM cohort study
Authors: King Derek , Farina Nicolas , Burgon Clare , Feeney Yvonne , Berwald Sharne , Bustard Elizabeth , Gallaher Laura , Habibi Ruth , Wittenberg Raphael , Comas-Herrera Adelina , Knapp Martin , Banerjee Sube 
Published: May 2022

AbstractBackgroundResearch to date offers mixed evidence about the relationship between quality of life and severity of cognitive impairment in people with dementia. We aimed to investigate longitudinal changes in patient- and proxy-rated health-related quality of life (HRQL) by severity of dementia and explore factors associated with changes in HRQL over a one-year period. We used data from the MODEM longitudinal cohort study which recruited dyads of persons with clinically diagnosed dementia and their principal carer and interviewed them face-to-face at baseline and again 1 year later.MethodsQuota sampling was used to generate balanced numbers (targetn = 100 for each severity level) of people with mild cognitive impairment (20+ on the standardised Mini-Mental State Examination (sMMSE)), moderate cognitive impairment (score 10 to 19), and severe cognitive impairment (score 0 to 9). Persons with dementia without an identifiable family carer or other informant (e.g., a formal/professional/paid carer) were excluded from the study. Participants answered a series of questions measuring their HRQL: DEMQOL, DEMQOL-proxy, EQ-5D-3 L, EQ-5D-3L proxy. Multiple regression models were built to understand the effects of baseline demographics and dementia symptoms (cognitive impairment, neuropsychiatric symptoms) on change in HRQL over 1 year.ResultsTwo hundred and forty-three dyads of people with clinically diagnosed dementia and carers completed baseline and follow-up interviews. Most measures of HRQL remaining relatively stable between time-points, but one index of HRQL, EQ-5D proxy, significantly declined. Depending on the HRQL measure, different factors were associated with change in HRQL. The only factor consistently associated with decline in HRQL (when compared to improvement) was having a diagnosis of a non-Alzheimer’s dementia.ConclusionsDeterioration in HRQL is not an inevitable part of the dementia journey. However, people with non-Alzheimer’s dementias may be more susceptible to HRQL decline. This may indicate that those with non-Alzheimer’s dementia may benefit from specific support focussed on maintaining their quality of life.
Developing a novel tool to assess the ability to self-administer medication in non-demented in-hospital patients: ABLYMED study protocol
Authors: Maiworm Anneke , Langner Robert , Wilm Stefan , Hermann Dirk M. , Frohnhofen Helmut , Gronewold Janine 
Published: May 2022

Abstract
Background
Older people often suffer from multimorbidity resulting in polypharmacy. The correct administration of medication is a crucial factor influencing treatment efficacy. However, tools for evaluating the ability to self-administer different dosage forms of medications are lacking. The objectives of the ABLYMED study are to 1) assess the ability to self-administer different dosage forms of medication in older non-demented in-hospital patients who report autonomous management of medication, 2) identify factors influencing the ability to self-administer medication, and 3) develop a standardized tool to validly assess the ability to self-administer different dosage forms of medications based on the final study results.

Methods
One hundred in-patients from the department of orthopedics and trauma surgery of the University Hospital Düsseldorf  ≥ 70 years of age and regularly taking ≥ 5 different drugs autonomously will be prospectively recruited into the observational cross-sectional single-center ABLYMED study. Patients undergo an interview addressing demographic and clinical information, medication history (which medications are taken since when, in which dose and dosage form, and subjective proficiency of taking these medications), medication adherence, and factors possibly influencing adherence including personality traits and perceived quality of the medication regimen. Quality of the medication regimen is also rated by clinicians according to validated lists. Further, patients receive a comprehensive geriatric assessment including measures of cognition, mobility, and functional status. The ability to self-administer medication is assessed by having patients perform different tasks related to medication self-administration, which are video recorded and rated by different experts. The patients’ self-reported ability will be correlated with the observed performance in the self-administration tasks. Further, factors correlating with the reported and observed ability to self-administer medication will be evaluated using correlation and regression models. Based on the final study results, a novel tool to assess the ability of older patients to self-administer medication will be developed.

Discussion
In addition to guideline-based pharmacotherapy, correct intake of prescribed medication is crucial for optimal therapy of multimorbidity in older people. Tools to validly assess the ability of older patients to self-administer different dosage forms of medications are lacking, but should be included in comprehensive geriatric assessments to secure functional health.

Trial registration
Development of an assessment instrument to evaluate the ability to manage various dosage forms, DRKS-ID: DRKS00025788, (date of registration: 07/09/2021).
Characteristics and patterns of individuals who have self-harmed: a retrospective descriptive study from Karachi, Pakistan
Authors: Tharani Ambreen , Farooq Salima , Lakhdir Maryam Pyar Ali , Talib Uroosa , Khan Murad Moosa 
Published: May 2022

Abstract
Background
Self-Harm (SH) is a major global public health problem under-researched in Pakistan due to religious and legal implications. This study aims to identify the characteristics and patterns among patients with SH and factors associated with the intent to die.

Method
This retrospective descriptive study where SH cases presented to private tertiary care teaching hospital in Karachi, Pakistan, from January 2013 to December 2017 were extracted from HIMS records. Details related to demography, history, associated factors, access to methods used, and intent to die were collected on a structured proforma and analysed using STATA version 14.

Results
A total of 350 cases were analysed. More than half of the reported cases were in the age group 20–39 years. Though only one-fourth of the SH cases had a past psychiatric history, it was found to be significantly (P-value < 0.05) associated with intent to die. Notably, 81% of the cases do not have a history of SH. Drug overdose (61.6%) and insecticides (36.6%) were the two most common methods used. Depression was identified in nearly half of the cases. The most common reason for attempting SH was inter-personal relationship issues (54.3%).

Conclusion
This paper provides recent data on the characteristics and patterns associated with the intent to die of individuals who have self-harmed. In most cases of SH, past psychiatric history was not evident. Current psychiatric diagnosis and young adults were favoured in this study. The data from this study has limited representation for all demographic representation of SH cases from Pakistan as being from a single private hospital. There is a need for further research on SH in Pakistan.
A smoking cessation induction intervention via virtual reality headset during a dental cleaning: protocol for a randomized controlled trial
Authors: Borrelli B. , Endrighi R. , Jurasic M. M. , Hernandez H. , Jones E. , Ospina J. , Cabral H. J. , Quintiliani L.M. , Werntz S. 
Published: May 2022

AbstractBackgroundEffective smoking cessation programs exist but are underutilized by smokers, especially by disadvantaged smokers. Cessation interventions in dental settings have been shown to be effective, but are not consistently delivered due to provider burden and lack of training, especially on how to counsel smokers who are not motivated to quit.MethodsThis study is a 2-arm, phase III longitudinal randomized controlled efficacy trial to motivate utilization of evidenced based treatments (EBTs) for smoking cessation (e.g., state quitline, clinic-based counseling, the National Cancer Institute’s text message program, and pharmacotherapy). Patients attending an urban dental clinic (n = 376) will be randomized to an intervention group (INT; smoking cessation induction video delivered via VR headset during their teeth cleaning, brochure about EBTs, and a 4-week text message program) or control group (CTRL; relaxation video delivered via VR headset during teeth cleaning, the same brochure as INT, and assessment-only text messages). Assessments will occur at baseline, immediately after the clinic appointment, one-month post-appointment and 3-and 6 months later. We hypothesize INT will be more likely to contact EBTs vs CTRL and have greater utilization rates of EBTs. Secondary objectives are to test the efficacy of INT on point-prevalence smoking abstinence, quit smoking attempts, and motivation to quit vs. CTRL.DiscussionIncorporating smoking cessation into a dental clinic visit and targeting all smokers, regardless of motivation to quit, provides proactive reach to cigarette smokers who otherwise may not seek treatment for smoking.Trial registrationNCT04524533Registered August 24, 2020.
Does community-based health insurance protect women from financial catastrophe after cesarean section? A prospective study from a rural hospital in Rwanda
Authors: Koch Rachel , Nkurunziza Theoneste , Rudolfson Niclas , Nkurunziza Jonathan , Bakorimana Laban , Irasubiza Holly , Sonderman Kristin , Riviello Robert , Hedt-Gauthier Bethany L. , Shrime Mark , Kateera Fredrick 
Published: May 2022

Abstract
Background
The implementation of community-based health insurance in (CBHI) in Rwanda has reduced out of pocket (OOP) spending for the > 79% of citizens who enroll in it but the effect for surgical patients is not well described. For all but the poorest citizens who are completely subsidized, the OOP (out of pocket) payment at time of service is 10%. However, 55.5% of the population is below the international poverty line meaning that even this copay can have a significant impact on a family’s financial health. The aim of this study was to estimate the burden of OOP payments for cesarean sections in the context of CBHI and determine if having it reduces catastrophic health expenditure (CHE).

Methods
This study is nested in a larger randomized controlled trial of women undergoing cesarean section at a district hospital in Rwanda. Eligible patients were surveyed at discharge to quantify household income and routine monthly expenditures and direct and indirect spending related to the hospitalization. This was used in conjunction with hospital billing records to calculate the rate of catastrophic expenditure by insurance group.

Results
About 94% of the 340 women met the World Bank definition of extreme poverty. Of the 330 (97.1%) with any type of health insurance, the majority (n = 310, 91.2%) have CBHI. The average OOP expenditure for a cesarean section and hospitalization was $9.36. The average cost adding transportation to the hospital was $19.29. 164 (48.2%) had to borrow money and 43 (12.7%) had to sell possessions. The hospital bill alone was a CHE for 5.3% of patients. However, when including transportation costs, 15.4% incurred a CHE and including lost wages, 22.6%.

Conclusion
To ensure universal health coverage (UHC), essential surgical care must be affordable. Despite enrollment in universal health insurance, cesarean section still impoverishes households in rural Rwanda, the majority of whom already lie below the poverty line. Although CBHI protects against CHE from the cost of healthcare, when adding in the cost of transportation, lost wages and caregivers, cesarean section is still often a catastrophic financial event. Further innovation in financial risk protection is needed to provide equitable UHC.
Mental health provider perspectives of the COVID-19 pandemic impact on service delivery: a focus on challenges in remote engagement, suicide risk assessment, and treatment of psychosis
Authors: Bornheimer Lindsay A. , Li Verdugo Juliann , Holzworth Joshua , Smith Fonda N. , Himle Joseph A. 
Published: May 2022

Abstract
Background
The COVID-19 pandemic has been impacting the need, utilization, and delivery of mental health services with greater challenges being faced by clients and providers. With many clients facing reduced access to services and social isolation, a focus on suicide risk assessment and prevention is critical. Concern is particularly increased for clients with schizophrenia spectrum disorders given data show suicide rates are disproportionately high for those with psychosis in comparison to the general population. Provider perspectives of challenges in service delivery are needed to inform efforts to improve access, feasibility, and quality of mental health care throughout the evolving pandemic. This study explored mental health provider perspectives of client challenges in service utilization and provider challenges in service delivery, including remote engagement, suicide risk assessment, and treatment of psychosis.

Methods
Data were collected from social work mental health providers (n = 12) in United States community mental health setting. Providers consented to participate and responded to questions about service delivery experiences in late 2020 and in relation to COVID-19. Demographic and practice-related provider data were explored descriptively using SPSS and qualitative data using open coding and grounded theory methods in Dedoose.

Results
Among the 9 providers who engaged in remote service delivery, 7 (77.8%) experienced challenges in remote engagement with clients and 8 (88.9%) experienced challenges in treatment of psychosis. Among the 7 providers who engaged in remote suicide assessment, 4(57%) experienced challenges. Qualitative themes emerged including logistic (e.g., technology access and use), engagement (e.g., virtual rapport-building and limited remote services), and clinical (e.g., difficulty assessing suicide risk, internal stimuli, abnormal involuntary movement, and affect) challenges in service delivery.

Conclusions
Provider perspectives are essential to inform efforts to build resources and problem-solve challenges and barriers that both providers and clients face throughout various shifts in mental health service delivery. Findings emphasize the need to troubleshoot client access to technology, bolster support for providers to prevent burnout, and greater provider training to improve skills in remote engagement, assessment, and treatment, particularly in relation to psychosis and suicide prevention. Study implications are not only critical for the evolving COVID-19 pandemic, but also in preparation for ongoing shifts in service delivery as technology evolves.
Integrating mammography screening programmes into specialist breast centres in Italy: insights from a national survey of Senonetwork breast centres
Authors: Deandrea Silvia , Ferrè Francesca , D’Antona Rosanna , Angiolini Catia , Bortul Marina , Bucchi Lauro , Caumo Francesca , Fortunato Lucio , Giordano Livia , Giordano Monica , Mantellini Paola , Martelli Irene , Melucci Giuseppe , Naldoni Carlo , Paci Eugenio , Pau Loredana , Saguatti Gianni , Sestini Elisabetta , Tinterri Corrado , Vainieri Milena , Cataliotti Luigi 
Published: May 2022

Abstract
Background
Despite recommendations, mammography screening is often insufficiently integrated into specialist breast centres. A national, cross-sectional, voluntary, online survey on this issue was carried out among the Italian breast centres associated with Senonetwork, the Italian network of breast cancer services.

Methods
A 73-item questionnaire was created, pre-tested and piloted. Centres integrating and not integrating a screening programme were compared using the unified theory of acceptance and use of technology (UTAUT) model. Centres’ clustering was performed using the Gower’s distance metric. Groups and clusters were compared with the equality-of-means test.

Results
The response rate was 82/128 (65%). Overall, 84% (69/82) breast centres reported a collaboration with a screening programme in performing and/or reading mammograms and in the diagnostic work-up of women with abnormal screening results. The same proportion was observed among those centres responding to all questions (62/74). Performance expectancies (or the perceived usefulness of integration in terms of clinical quality, patient convenience, ease of job, and professional growth), satisfaction and motivation were higher in those centres collaborating with the screening programme. Effort expectancy indicators (or the degree to which the respondents believe that the integration is easy to implement) and those concerning the existence of facilitating conditions were lower both in centres collaborating and not collaborating with the screening programme. Among the former, six clusters of centres, distributed from ‘no integration’ to ‘high’, were identified. In cluster analysis, the highest level of integration was associated with higher agreement that integration eases the job, offers better opportunities for professional growth, and makes the working environment more satisfactory. The least integrated cluster assigned the lowest score to the statement that local health authority made available the resources needed.

Conclusions
While confirming the positive effects of integrating screening programmes into breast centres, this survey has brought to light specific difficulties that must be faced. The results provide insights into the importance of integration focusing on the perspectives of professional career and motivation. The deficiency of facilitating conditions to integration is modifiable. Screening professionals’ societies may have a role as initiators of the integration. Other supporting actions may be included in health laws at the national and regional level.