bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prevalence of inherited retinal diseases in a large Egyptian cohort
Authors: Tawfik Caroline Atef , Roshdy Maged Maher , Morris Nancy Magdy 
Published: October 2023

Abstract
Background
Inherited retinal diseases form a rare, highly heterogeneous group of genetic disorders characterized by retinal degeneration. It is considered one of the leading causes of debilitating visual loss and blindness in children and young adults. Despite this few population-based data studies on prevalence of inherited retinal diseases exist. Moreover, prevalence can vary widely depending on geographical area, population ethnicity and cultural habits.

Purpose
To report the prevalence of different subtypes of Inherited retinal diseases in a large Egyptian cohort in a retrospective, hospital-based, cross-sectional study.

Methods
We conducted an extensive electronic medical record search for all the patients attending the outpatient clinic and investigation unit of Ain Shams University Hospital and the two branches of Watany Eye Hospital in the period between January 2015 and October 2022 aiming to identify the prevalence rate of different types of IRDs, patient demographics and stratify them according to their phenotype.

Results
We examined the electronic medical records of 478 222 patients, 971 patients were diagnosed with IRD by clinical examination with or without any of the following investigations: color fundus photography, fundus autofluorescence, fundus fluorescein angiography, optical coherence tomography and/or electrophysiological studies as electroretinogram, visual evoked potential and electrooculogram. The overall prevalence was 0.2%. The most common IRD encountered was isolated retinitis pigmentosa with a percentage of 78.9% followed by Stargardt disease at 6.3%, cone-rod dystrophy at 2.0%, autosomal recessive bestrophinopathy at 1.9% and unspecified IRD at 1.5%.

Conclusion
Retinitis pigmentosa was the most common IRD encountered followed by Stargardt disease. Many of the dystrophies are the subject of clinical intervention trials, and population-based epidemiological data can guide phenotype-based genetic testing and help assess the future need for treatment.
A qualitative analysis of stress experiences and coping strategies in adolescents with Crohn's disease
Authors: Zhou Xiao-juan , Huang Shuai 
Published: October 2023

Abstract
Background
In this study, we investigated the coping mechanisms and stress perceptions of adolescent patients with Crohn's disease.

Methods
Using semi-structured face-to-face interviews, we conducted an extensive qualitative study of the disease perceptions, stress experiences, and corresponding coping mechanisms in adolescent patients with Crohn's disease. We used Colaizzi content analysis to synthesize the themes.

Results
The two main themes in this study were inappropriate coping mechanisms and physical and psychological stress. The primary initiators of physical and psychological stress in adolescents with Crohn's disease were weak disease perception, symptom distress, negative emotions, lack of support, and multiple stressors. The decrease in self-management and self-control induced by the initiators led to changes in cognition, emotions, and attitudes, which subsequently led to poor coping behavior.

Conclusion
Adolescents with Crohn's disease can better combat the condition by implementing appropriate coping strategies. Their mental health should be given attention, and a multidisciplinary team should be assembled to provide them with supportive care.
A nested case-control study of the effects of dust exposure, smoking on COPD in coal workers
Authors: Wang Hui , Meng Rui , Wang Xuelin , Si Zhikang , Zhao Zekun , Lu Haipeng , Wang Huan , Hu Jiaqi , Zheng Yizhan , Chen Jiaqi , Zhao Ziqi , Zhu Hongmin , Li Xiaoming , Xue Ling , Yan Shengguang , Sun Jian , Su Yu , Wu Jianhui 
Published: October 2023

Abstract
Background
Chronic obstructive pulmonary disease (COPD) represents a prevalent ailment, progressively surging within the ranks of coal mine laborers. The current study endeavors to elucidate the effects of dust exposure and smoking on COPD incidence amongst coal mine workers, while concurrently devising preventive strategies for this affliction.

Method
A nested case–control study was conducted encompassing 1,416 participants aged ≥ 18 years, spanning the duration from (2017–2018) until 2020. A meticulous matching process yielded a cohort of 708 COPD patients, each paired with a control subject, forming a harmonious 1:1 ratio. Multiple logistic regression analysis was employed to scrutinize the associations between smoking, dust exposure with COPD among coal workers.

Results
The COPD prevalence within the cohort of coal workers under investigation amounted to 22.66%, with an accompanying incidence density of 0.09/person-year. Following meticulous adjustment for confounding variables, it was discerned that cumulative dust exposure within the range of 47.19 ~ (OR: 1.90, 95% CI: 1.05, 3.44), 101.27 ~ (OR: 1.99, 95% CI: 1.17, 3.39), as well as smoking indices of 72 ~ (OR: 1.85, 95% CI: 1.19, 2.88), 145 ~ (OR: 1.74, 95% CI: 1.17, 2.61), 310 ~ (OR: 1.85, 95% CI: 1.23, 2.77) engender an escalated vulnerability to COPD among coal workers. Furthermore, interaction analysis discerned an absence of both multiplicative and additive interactions between dust exposure, smoking, and COPD occurrence amidst coal workers.

Conclusion
Dust exposure and smoking were unequivocally identified as precipitating risk factors for COPD incidence within the population of coal workers, albeit devoid of any discernible interaction between these two causal agents.
Mexican Americans agree to participate in longitudinal clinical research more than non-Hispanic whites
Authors: Chen Chen , Shi Xu , Lisabeth Lynda D , Kwicklis Madeline , Malvitz Madelyn , Case Erin , Morgenstern Lewis B 
Published: October 2023

Abstract
Background
The National Institutes of Health has advocated for improved minority participation in clinical research, including clinical trials and observational epidemiologic studies since 1993. An understanding of Mexican Americans (MAs) participation in clinical research is important for tailoring recruitment strategies and enrollment techniques for MAs. However, contemporary data on MA participation in observational clinical stroke studies are rare. We examined differences between Mexican Americans (MAs) and non-Hispanic whites (NHWs) participation in a population-based stroke study.

Methods
We included 3,594 first ever stroke patients (57.7% MAs, 48.7% women, median [IQR] age 68 [58–79]) from the Brain Attack Surveillance in Corpus Christi Project, 2009–2020 in Texas, USA, who were approached and invited to participate in a structured baseline interview. We defined participation as completing a baseline interview by patient or proxy. We used log-binomial models adjusting for prespecified potential confounders to estimate prevalence ratios (PR) of participation comparing MAs with NHWs. We tested interactions of ethnicity with age or sex to examine potential effect modification in the ethnic differences in participation. We also included an interaction between year and ethnicity to examine ethnic-specific temporal trends in participation.

Results
Baseline participation was 77.0% in MAs and 64.2% in NHWs (Prevalence Ratio [PR] 1.20; 95% CI, 1.14–1.25). The ethnic difference remained after multivariable adjustment (1.17; 1.12–1.23), with no evidence of significant effect modification by age or sex (Pinteraction by age = 0.68, Pinteraction by sex = 0.83). Participation increased over time for both ethnic groups (Ptrend < 0.0001), but the differences in participation between MAs and NHWs remained significantly different throughout the 11-year time period.

Conclusion
MAs were persistently more likely to participate in a population-based stroke study in a predominantly MA community despite limited outreach efforts towards MAs during study enrollment. This finding holds hope for future research studies to be inclusive of the MA population.
Development and evaluation of the Rural and Northern Community Focused Model of COPD Care (RaNCoM)
Authors: Freeman Shannon , Peach Laura , Ross Christopher , Marchal Kathy , Meyer Anthon , Skinner Kelly 
Published: October 2023

Abstract
Background
The prevalence of COPD continues to rise. To address the challenges to provide high quality COPD care in rural and northern communities, leaders in one rural and northern community in Western Canada sought to change the culture of COPD screening and care. Recognizing effective assessment, diagnosis, and treatment for patients with COPD are crucial to improve outcomes, a program was developed between 2012 and 2021 to enhance primary care for COPD patients.

Methods
A process evaluation was undertaken to assess program development, implementation, mechanisms of impact, and context of COPD program. Qualitative thematic analysis of stakeholder interviews (n = 11) and a document review (n = 60; ~ 500 pages) of key clinic documents was conducted.

Results
We describe five phases of the COPD program’s development (Survive; Reorganize and Stabilize; Assess and Respond; Build and Refine; and Sustain and Share), highlighting areas of innovation. Outreach and localizing resources improved access to the program. Acquiring secured physician compensation, capturing quality data, and improving patient and provider self-efficacy built the capacity of the system and stakeholders within it. Finally, relationships were forged through building an integrated facility, collaborative networking, and patient engagement. Key elements of program implementation included the resources (infrastructure, software, operational) required to ensure operation.

Conclusion
Team-based care and service integration enhanced care capacity and the health network. Focused use of infrastructure and resources supported the people in the care system. Upholding a shared value of relationship is critical to deliver robust and sustainable rural healthcare. Quality improvement requires investment in rural community healthcare resources.
Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report
Authors: Luterbacher Fanny , Blouin Jean-Louis , Schwitzgebel Valerie M. 
Published: October 2023

Abstract
Background
New-onset diabetes in youth encompasses type 1 diabetes, type 2 diabetes, monogenic diabetes, and rarer subtypes like Type B insulin resistance syndrome and ketosis-prone atypical diabetes in African populations. Some cases defy classification, posing management challenges. Here, we present a case of a unique, reversible diabetes subtype.

Case presentation
We describe an adolescent African girl recently diagnosed with systemic lupus erythematosus. At age 15, she presented with ketoacidosis, HbA1c of 108.7 mmol/mol (12.1%), and positive anti-insulin antibodies. Initially diagnosed with type 1 diabetes, insulin was prescribed. Due to the presence of obesity and signs of insulin resistance, we added metformin. Concurrently, she received treatment for lupus with hydroxychloroquine, mycophenolate mofetil, and prednisone. After discharge, she stopped insulin due to cultural beliefs. Five months later, her glycemia and HbA1c normalized (37 mmol/mol or 5.5%) without insulin, despite corticosteroid therapy and weight gain. Autoantibodies normalized, and lupus activity decreased. Genetic testing for monogenic diabetes was negative, and the type 1 genetic risk score was exceptionally low.

Conclusions
We present a complex, reversible diabetes subtype. Features suggest an autoimmune origin, possibly influenced by overlapping HLA risk haplotypes with lupus. Lupus treatment or immunomodulation may have impacted diabetes remission. Ancestry-tailored genetic risk scores are currently designed to improve diagnostic accuracy.
Effect of application of short-form video health education on the health knowledge and satisfaction with nursing care of patients with lower extremity fractures
Authors: Zheng Yuliu , Yan Qiuyan 
Published: October 2023

Abstract
Background
Video health education has been increasingly adopted in the clinic to expand patient guidance and improve perioperative outcomes. To date, however, it is unclear whether the use of short-form videos and web-based clinician-created forums actually improve the perioperative experience of patients.

Objective
To evaluate the effect of application of short-form video health education on the health knowledge and satisfaction with nursing care of patients with lower extremity fractures.

Methods
This study is a quasi experimental study, using convenient sampling method and grouping according to historical control., one hundred and twenty-two patients admitted with lower limb fractures to the orthopedic ward of a tertiary first-class general hospital in Fujian, China were enrolled in this study. Based on their admission order, patients admitted from September 2021 to November 2021 were enrolled into the control group (n = 61) and patients admitted from December 2021 to March 2022 were enrolled in the intervention group (n = 61). Both groups received identical admission-based patient education, perioperative care, and discharge rehabilitation instructions. The control group received the traditional education method while the intervention group received a short-form educational video in addition to the traditional education method. Patient perioperative health knowledge and patient satisfaction with nursing care during treatment of lower limb fractures were compared across the two groups.

Results
Preoperative health knowledge in the intervention group was 95.1%, compared to 82.0% in the control group (χ2 = 3.954, P<0.05). The Newcastle satisfaction with nursing scales score in the intervention group was (80.902 ± 7.016) points, compared to (78.131 ± 8.213) points in the control group. These group differences were statistically significant (P < 0.05).

Conclusion
The application of a short-form educational video during the perioperative care of patients with lower limb fractures may improve patients’ understanding of perioperative health and increase satisfaction with nursing care.
Site assessment survey to assess the impact of the COVID-19 pandemic on HIV clinic site services and strategies for mitigation in Washington, DC
Authors: Barish Nicole , Barth Shannon , Monroe Anne K. , Greenberg Alan E. , Castel Amanda D. ,   DC Cohort Executive Committee, Rakhmanina Natella , Barnes Clover , Serlin Michael , Kumar Princy , Temprosa Marinella , Bhandaru Vinay , Bezabeh Tsedenia , Grover Nisha , Mele Lisa , Reamer Susan , Sapozhnikova Alla , Strylewicz Greg , Xiao Jiayang , Byrne Morgan , Hammerlund Shannon , Kulie Paige , Peterson James , Stewart Bianca , Ma Yan , Lucar Jose , Gajjala Jhansi L. , Rana Sohail , Horberg Michael , Fernandez Ricardo , Taylor Duane , Bordon Jose , Teferi Gebeyehu , Benator Debra , Denyer Rachel , Ruiz Maria Elena , Abbott Stephen 
Published: October 2023

Abstract
Introduction
The COVID-19 pandemic has created substantial interruptions in healthcare presenting challenges for people with chronic illnesses to access care and treatment services. We aimed to assess the impact of the pandemic on HIV care delivery by characterizing the pandemic-related impact on HIV clinic-level services and the mitigation strategies that were developed to address them.

Methods
The data comes from a site assessment survey conducted in the DC Cohort, an observational clinical cohort of PWH receiving care at 14 HIV outpatient clinics in Washington, D.C. Frequency counts and prevalence estimates of clinic-level survey responses about the impact of care delivery, COVID-19 testing, and vaccinations and mitigation strategies are presented.

Results
Clinics reported an increase in temporary clinic closures (n = 2), reduction in clinic hours (n = 5), telehealth utilization (n = 10), adoption of multi-month dispensation of antiretroviral (ARV) medication (n = 11) and alternative drug delivery via postal/courier service, home/community delivery or pick-up (n = 11). Clinics utilized strategies for PWH who were lost to follow-up during the pandemic including offering care to persons with any income level and insurance status (n = 9), utilizing e-prescribing for auto refills even if the patient missed visits (n = 8), and utilization of the regional health information exchange to check for hospitalizations of PWH lost to follow-up (n = 8). Most social services offered before the pandemic remained available during the pandemic; however, some support services were modified.

Conclusions
Our findings demonstrate the extent of pandemic-era disruptions and the use of clinic-level mitigation strategies among urban HIV clinics. These results may help prepare for future pandemic or public health emergencies that disrupt healthcare delivery and access.
Single-cell Mayo Map (scMayoMap): an easy-to-use tool for cell type annotation in single-cell RNA-sequencing data analysis
Authors: Yang Lu , Ng Yan Er , Sun Haipeng , Li Ying , Chini Lucas C. S. , LeBrasseur Nathan K. , Chen Jun , Zhang Xu 
Published: October 2023

Abstract
Background
Single-cell RNA-sequencing (scRNA-seq) has become a widely used tool for both basic and translational biomedical research. In scRNA-seq data analysis, cell type annotation is an essential but challenging step. In the past few years, several annotation tools have been developed. These methods require either labeled training/reference datasets, which are not always available, or a list of predefined cell subset markers, which are subject to biases. Thus, a user-friendly and precise annotation tool is still critically needed.

Results
We curated a comprehensive cell marker database named scMayoMapDatabase and developed a companion R package scMayoMap, an easy-to-use single-cell annotation tool, to provide fast and accurate cell type annotation. The effectiveness of scMayoMap was demonstrated in 48 independent scRNA-seq datasets across different platforms and tissues. Additionally, the scMayoMapDatabase can be integrated with other tools and further improve their performance.

Conclusions
scMayoMap and scMayoMapDatabase will help investigators to define the cell types in their scRNA-seq data in a streamlined and user-friendly way.
Nuclear lncRNA NORSF reduces E2 release in granulosa cells by sponging the endogenous small activating RNA miR-339
Authors: Wang Miaomiao , Wang Yang , Yang Liu , Du Xing , Li Qifa 
Published: October 2023

Abstract
Background
Functioning as a competing endogenous RNA (ceRNA) is the main action mechanism of most cytoplasmic lncRNAs. However, it is not known whether this mechanism of action also exists in the nucleus.

Results
We identified four nuclear lncRNAs that are presented in granulosa cells (GCs) and were differentially expressed during sow follicular atresia. Notably, similar to cytoplasmic lncRNAs, these nuclear lncRNAs also sponge miRNAs in the nucleus of GCs through direct interactions. Furthermore, NORSF (non-coding RNA involved in sow fertility), one of the nuclear lncRNA acts as a ceRNA of miR-339. Thereby, it relieves the regulatory effect of miR-339 on CYP19A1 encoding P450arom, a rate-limiting enzyme for E2 synthesis in GCs. Interestingly, miR-339 acts as a saRNA that activates CYP19A1 transcription and enhances E2 release by GCs through altering histone modifications in the promoter by directly binding to the CYP19A1 promoter. Functionally, NORSF inhibited E2 release by GCs via the miR-339 and CYP19A1 axis.

Conclusions
Our findings highlight an unappreciated mechanism of nuclear lncRNAs and show it acts as a ceRNA, which may be a common lncRNA function in the cytoplasm and nucleus. We also identified a potential endogenous saRNA for improving female fertility and treating female infertility.
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
Authors: Yang Xinzhuang , Zhang Dingding , Shen Si , Li Pidong , Li Mengjie , Niu Jingwen , Ma Dongrui , Xu Dan , Li Shuangjie , Guo Xueyu , Wang Zhen , Zhao Yanhuan , Ren Haitao , Ling Chao , Wang Yang , Fan Yu , Shen Jianxiong , Zhu Yicheng , Wang Depeng , Cui Liying , Chen Lin , Shi Changhe , Dai Yi 
Published: October 2023

Abstract
Background
Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleotide repeat expansions in non-coding regions of LRP12, G1PC1, NOTCH2NLC and RILPL1 were reported to be the etiologies for OPDM.

Results
In this study, we performed long-read whole-genome sequencing in a large five-generation family of 156 individuals, including 21 patients diagnosed with typical OPDM. We identified CGG repeat expansions in 5’UTR of RILPL1 gene in all patients we tested while no CGG expansion in unaffected family members. Repeat-primed PCR and fluorescence amplicon length analysis PCR were further confirmed the segregation of CGG expansions in other family members and 1000 normal Chinese controls. Methylation analysis indicated that methylation levels of the RILPL1 gene were unaltered in OPDM patients, which was consistent with previous studies. Our findings provide evidence that RILPL1 is associated OPDM in this large pedigree.

Conclusions
Our results identified RILPL1 is the associated the disease in this large pedigree.
The provision of malaria services in border districts of four countries in Southern Africa: results from a cross-sectional community assessment of malaria border health posts
Authors: Chisenga Mukosha , Dlamini Bongani , Mwendera Nyasha , Maquina Paulo , Hamainza Busiku , Martins José Franco , Saute Francisco , Bock Henrico , Gosling Roly , Bennett Adam , Smith Jennifer , Kleinschmidt Immo 
Published: October 2023

Abstract
Background
The importation of parasites across borders remains a threat to malaria elimination. The Southern African Development Community Malaria Elimination Eight (E8) established 39 border health facilities on 5 key international borders between high and low-burden countries. These clinics aimed to improve access to prevention, diagnosis, and treatment of malaria for residents in border areas and for mobile and migrant populations who frequently cross borders. Studies were conducted in each of the four high-burden E8 countries (Angola, Mozambique, Zambia, and Zimbabwe) to evaluate malaria services in border areas.

Methods
Cross-sectional surveys were conducted within 30 km of recently established E8 Border Health Posts. Structured questionnaires were administered to randomly selected respondents to assess malaria-related knowledge and behavior, access to malaria prevention, diagnosis and treatment of malaria, and risk factors for malaria associated with local and cross-border travel.

Results
Results showed that most providers followed appropriate guidelines performing blood tests when individuals presented with fever, and that nearly all those who reported a positive blood test received medication. Lack of access to health care due to distance, cost or mistrust of the provider was rare. A minority of respondents reported not receiving timely diagnosis either because they did not seek help, or because they were not offered a blood test when presenting with fever. There was a high level of correct knowledge of causes, symptoms, and prevention of malaria. A majority, of border residents had access to primary prevention against malaria through either long-lasting insecticidal nets (LLINs) or indoor residual spraying (IRS). Cross border travel was common with travellers reporting sleeping outside without protection against malaria.

Conclusions
The study demonstrated the importance of border health facilities in providing access to malaria services. Prevention needs to be improved for people who travel and sleep outdoors. Community health workers can play a key role in providing access to information, testing and treating malaria.