bluuebunny/crossref_metadata_2025_split huggingface dataset:
Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
Authors: Xu Yuqing , Zhu Linyan , Qian Yeqing , Dong Minyue 
Published: June 2023

IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 (LGMD23). LGMD23 is characterized by slowly progressive proximal muscle weakness, which primarily affects the lower limbs and results in gait difficulties. Additional clinical features include increased serum creatine kinase, abnormal electromyography with or without white matter abnormalities on brain imaging.MethodsClinical data were collected from a Chinese Han family. Whole-exome sequencing, Sanger sequencing, RT-PCR and TA clone sequencing were performed on the family members.ResultsCompound heterozygous mutations of LAMA2: c.1693C &gt; T (p. Q565*) (maternally inherited) and c.9212-6T &gt; G (paternally inherited) were identified and confirmed in the proband. The mutation c.1693C &gt; T (p. Q565*) was classified as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. By performing RT-PCR and TA clone sequencing, an insertion of 40-bp intronic sequence (intron 64) was found in the transcripts of the proband and her father, which resulted in a frameshift and premature truncation codon of the LAMA2. In particular, the variant truncated the LamG domain of the LAMA2. Therefore, the c.9212-6T&gt;G was classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines.DiscussionOur findings described two novel mutations in a girl with LGMDR23, which contributes to the genetic counseling of the family and expands the clinical and molecular spectrums of the rare disease.
Incomplete peripheral retinal vascularisation in retinopathy of prematurity: is it the consequence of changing oxygen saturation?
Authors: Yehiam Sigal Zmujack , Simkin Samantha K. , Al-Taie Rasha , Wong Maisie , Battin Malcolm , Dai Shuan 
Published: June 2023

BackgroundWe wish to determine the prevalence and risk factors of incomplete peripheral avascular retina (IPAR) in children screened for retinopathy of prematurity (ROP) and its association with oxygen saturation (SpO2) targets.MethodsA retrospective review of retinal images of premature infants born and screened for ROP in Auckland Region, New Zealand, between January 2013 and December 2017 was conducted. Images were reviewed to determine if avascular retina was present at their final ROP screening. The prevalence of peripheral avascular retina was compared among infants born prior to (Group 1) and after (Group 2) 2015 when the SpO2 target was increased. Infants with any concurrent ocular pathology or who had received ROP treatment were excluded.ResultsIn total, 62 (12.8%) of the total of 486 infants (247 in Group 1; 239 in Group 2) were found to have IPAR at their last ROP screening. Group 1 had more statistically significant infants with IPAR compared to Group 2 (39/247 infants and 23/239 infants respectively; p = 0.043).ConclusionsIncomplete peripheral retinal vascularisation occurred at a prevalence of 12.8% in infants at risk of ROP. Higher SpO2 targets did not increase the prevalence of incomplete peripheral retinal vascularisation. Low gestational age and low birth weight are likely risk factors for the development of avascular retina. Further research into the risk factors associated with incomplete peripheral retinal vascularisation and the associated long-term outcomes is needed.
The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience
Authors: Maghnie Mohamad , Bruzzi Paolo , Casilli Giorgio , Lidonnici Dario , Scarano Gioacchino 
Published: June 2023

BackgroundAchondroplasia is a rare genetic disorder caused by a mutation in the FGFR3 gene, leading to skeletal changes and other systemic complications that greatly impact the patient's quality of life. There currently are differences in achondroplasia patients' management among countries and centers within the same country.MethodA group of Italian experts discussed the best practice and the current unmet needs in the management of patients with achondroplasia though a two-round Delphi panel, between September and November 2022. The Delphi survey consisted of 32 questions covering organizational aspects, diagnosis and follow-up, and management of achondroplasia patient, and was shared among 54 experts from 25 different centers in Italy. The consensus was determined on the basis of the percentage of agreement or disagreement to each statement on a 5-point Likert scale.ResultsPediatricians (including specialists in pediatrics, medical genetics, and pediatric endocrinology) orthopedics and medical geneticists were the most represented specialists accounting for 64%, 9% and 9% of participants, respectively. The panel highlighted the need for standardized procedures to identify reference centers, the crucial role of multidisciplinary team, and effective communication among centers (Hub and Spoke model) as the essential organizational features; the importance of genetic counseling, presence of a psychologist, and clear communication during prenatal diagnosis as main points for diagnosis; early intervention by different specialists, personalized care, and promotion of a healthy lifestyle as major points for patient management.ConclusionTo ensure an adequate continuity of care over the whole lifespan of a patient with achondroplasia a shared model for patient management is suggested by Italian specialists.
The complete mitochondrial genome of Amorphophallus albus and development of molecular markers for five Amorphophallus species based on mitochondrial DNA
Authors: Shan Yuanyu , Li Jingling , Zhang Xue , Yu Jie 
Published: June 2023

IntroductionAmorphophallus albus is an herbaceous, cormous, perennial plant used as a food source and traditional medicine in Asia. MethodsIn this study, we assembled and annotated the complete mitochondrial genome (mitogenome) of A. albus. Then we analyzed the repeated elements and mitochondrial plastid sequences (MTPTs), predicted RNA editing sites in mitochondrial protein-coding genes (PCGs). Lastly, we inferred the phylogenetic relationships of A. albus and other angiosperms based on mitochondrial PCGs, and designed two molecular markers based on mitochondrial DNA.Results and discussionThe complete mitogenome of A. albus consists of 19 circular chromosomes. And the total length of A. albus mitogenome is 537,044 bp, with the longest chromosome measuring 56,458 bp and the shortest measuring 12,040 bp. We identified and annotated a total of 36 protein-coding genes (PCGs), 21 tRNA genes, and 3 rRNA genes in the mitogenome. Additionally, we analyzed mitochondrial plastid DNAs (MTPTs) and identified 20 MTPTs between the two organelle genomes, with a combined length of 22,421 bp, accounting for 12.76% of the plastome. Besides, we predicted a total of 676 C to U RNA editing sites on 36 protein-coding genes of high confidence using Deepred-mt. Furthermore, extensive genomic rearrangement was observed between A. albus and the related mitogenomes. We conducted phylogenetic analyses based on mitochondrial PCGs to determine the evolutionary relationships between A. albus and other angiosperms. Finally, we developed and validated two molecular markers, Ai156 and Ai976, based on two intron regions (nad2i156 and nad4i976) respectively. The discrimination success rate was 100 % in validation experiments for five widely grown konjac species. Our results reveal the multi-chromosome mitogenome of A. albus, and the developed markers will facilitate molecular identification of this genus.
Enhancement of the anthocyanin contents of Caladium leaves and petioles via metabolic engineering with co-overexpression of AtPAP1 and ZmLc transcription factors
Authors: Yang Ximeng , Li Airong , Xia Jing , Huang Yan , Lu Xin , Guo Gangyu , Sui Shunzhao 
Published: June 2023

IntroductionMetabolic engineering of anthocyanin synthesis is an active research area for pigment breeding and remains a research hotspot involving AtPAP1 and ZmLc transcription factors. Caladium bicolor is a desirable anthocyanin metabolic engineering receptor, with its abundant leaf color and stable genetic transformation system.MethodsWe transformed C. bicolor with AtPAP1 and ZmLc and successfully obtained transgenic plants. We then used a combination of metabolome, transcriptome, WGCNA and PPI co-expression analyses to identify differentially expressed anthocyanin components and transcripts between wild-type and transgenic lines.ResultsCyanidin-3-O-glucoside, cyanidin-3-O-rutinoside and peonidin-3-O-rutinoside are the main components of anthocyanins in the leaves and petioles of C. bicolor. Exogenous introduction of AtPAP1 and ZmLc resulted in significant changes in pelargonidins, particularly pelargonidin-3-O-glucoside and pelargonidin-3-O-rutinoside in C. bicolor. Furthermore, 5 MYB-TFs, 9 structural genes, and 5 transporters were found to be closely associated with anthocyanin synthesis and transport in C. bicolor.DiscussionIn this study, a network regulatory model of AtPAP1 and ZmLc in the regulation of anthocyanin biosynthesis and transport in C. bicolor was proposed, which provides insights into the color formation mechanisms of C. bicolor, and lays a foundation for the precise regulation of anthocyanin metabolism and biosynthesis for economic plant pigment breeding.
Predicting new-onset post-stroke depression from real-world data using machine learning algorithm
Authors: Chen Yu-Ming , Chen Po-Cheng , Lin Wei-Che , Hung Kuo-Chuan , Chen Yang-Chieh Brian , Hung Chi-Fa , Wang Liang-Jen , Wu Ching-Nung , Hsu Chih-Wei , Kao Hung-Yu 
Published: June 2023

IntroductionPost-stroke depression (PSD) is a serious mental disorder after ischemic stroke. Early detection is important for clinical practice. This research aims to develop machine learning models to predict new-onset PSD using real-world data.MethodsWe collected data for ischemic stroke patients from multiple medical institutions in Taiwan between 2001 and 2019. We developed models from 61,460 patients and used 15,366 independent patients to test the models’ performance by evaluating their specificities and sensitivities. The predicted targets were whether PSD occurred at 30, 90, 180, and 365 days post-stroke. We ranked the important clinical features in these models.ResultsIn the study’s database sample, 1.3% of patients were diagnosed with PSD. The average specificity and sensitivity of these four models were 0.83–0.91 and 0.30–0.48, respectively. Ten features were listed as important features related to PSD at different time points, namely old age, high height, low weight post-stroke, higher diastolic blood pressure after stroke, no pre-stroke hypertension but post-stroke hypertension (new-onset hypertension), post-stroke sleep-wake disorders, post-stroke anxiety disorders, post-stroke hemiplegia, and lower blood urea nitrogen during stroke.DiscussionMachine learning models can provide as potential predictive tools for PSD and important factors are identified to alert clinicians for early detection of depression in high-risk stroke patients.
Assessment of medication adherence among Lebanese adult patients with non-communicable diseases during COVID-19 lockdown: a cross-sectional study
Authors: Malaeb Diana , Sacre Hala , Mansour Sara , Haddad Chadia , Sarray El Dine Abir , Fleihan Tamara , Hallit Souheil , Salameh Pascale , Hosseini Hassan 
Published: June 2023

BackgroundMedical treatment is considered a cornerstone in non-communicable diseases (NCDs) management, lack of adherence remains the main challenge that may compromise optimal therapeutic outcome achievement.PurposeThis study aimed to evaluate treatment adherence levels and associated factors among Lebanese adult patients with non-communicable diseases.Materials and methodsA cross-sectional survey conducted during the COVID-19 lockdown imposed by the Lebanese Government (between September 2020 and January 2021) enrolled 263 adult patients through an anonymous online questionnaire to assess adherence to medications using the Lebanese Medication Adherence Scale (LMAS-14).ResultsOf the total sample, 50.2% showed low adherence with a total mean adherence score of 4.41 ± 3.94. The results showed that depression (β = 1.351) and peptic ulcer (β = 1.279) were significantly associated with higher LMAS scores (lower adherence). However, age between 50 and 70 (β = −1.591, p = 0.011), practicing physical exercise (β = −1.397, p = 0.006), having kidney disease (β = −1.701, p = 0.032), and an intermediate (β = −1.336, p = 0.006) to high income (β = −3.207, p &lt; 0.001) were significantly associated with lower LMAS scores (higher adherence).ConclusionOur study shed light on the factors affecting medication adherence in patients with non-communicable diseases. It showed that depression and peptic ulcer were associated with lower adherence, contrary to older age, exercising, having chronic kidney disease, and a higher socioeconomic status.
Influence of social support on subjective well-being of patients with chronic diseases in China: chain-mediating effect of self-efficacy and perceived stress
Authors: Luo Zhenni , Zhong Sisi , Zheng Siyu , Li Yun , Guan Yan , Xu Weihong , Li Lu , Liu Siyuan , Zhou Haozheng , Yin Xuanhao , Wu Yibo , Liu Diyue , Chen Jiangyun 
Published: June 2023

IntroductionThe well-being of patients with chronic diseases is an issue of widespread concern in public health. While social support is thought to have a positive effect on it, the mechanisms of its influence have not been fully addressed. Thus, we explored the possible mediating effects of self-efficacy and perceived stress to determine the relationship between social support and well-being in these patients.MethodsA cross-sectional study was conducted among 4,657 patients with chronic diseases in China. The PROCESS Macro model 6 of SPSS was employed to explore the intermediary role between variables.ResultsSelf-efficacy and perceived stress played a partial intermediary role between social support and subjective well-being, with an effect ratio of 48.25% and 23.61%, respectively. Self-efficacy and perceived stress had a chain intermediary effect (28.14%) between social support and subjective well-being.DiscussionThis study suggested that improving the self-efficacy of patients with chronic diseases to cope with the changes in social support caused by the disease could reduce stress and enhance subjective well-being.
Community health workers' perspectives on integrating into school settings to support student health
Authors: Yao Nicole , Kowalczyk Monica , Gregory LaToya , Cheatham Jeannine , DeClemente Tarrah , Fox Kenneth , Ignoffo Stacy , Volerman Anna 
Published: June 2023

IntroductionWhile schools represent key venues for supporting health, they continue to experience gaps in health resources. The integration of community health workers (CHWs) into schools has the potential to supplement these resources but has been underexplored. This study is the first to examine perspectives of experienced CHWs about how CHWs can be applied in school settings to support student health.MethodsThis qualitative study involved conducting semi-structured interviews focused on implementation of CHWs in schools with individuals who held positions aligned with the CHW scope of work. De-identified transcripts were analyzed, and codes were organized into domains and themes.ResultsAmong 14 participants, seven domains emerged about the implementation of CHWs in schools: roles and responsibilities, collaborations, steps for integration, characteristics of successful CHWs, training, assessment, and potential challenges. Participants shared various potential responsibilities of school-based CHWs, including educating on health topics, addressing social determinants of health, and supporting chronic disease management. Participants emphasized the importance of CHWs building trusting relationships with the school community and identified internal and external collaborations integral to the success of CHWs. Specifically, participants indicated CHWs and schools should together determine CHWs' responsibilities, familiarize CHWs with the school population, introduce CHWs to the school community, and establish support systems for CHWs. Participants identified key characteristics of school-based CHWs, including having familiarity with the broader community, relevant work experience, essential professional skills, and specific personal qualities. Participants highlighted trainings relevant to school-based CHWs, including CHW core skills and health topics. To assess CHWs' impact, participants proposed utilizing evaluation tools, documenting interactions with students, and observing indicators of success within schools. Participants also identified challenges for school-based CHWs to overcome, including pushback from the school community and difficulties related to the scope of work.DiscussionThis study identified how CHWs can have a valuable role in supporting student health and the findings can help inform models to integrate CHWs to ensure healthy school environments.
Contributions from incumbent police officer’s physical activity and body composition to occupational assessment performance
Authors: Dicks Nathan D. , Shoemaker Marni E. , DeShaw Kathryn J. , Carper Michael J. , Hackney Kyle J. , Barry Allison M. 
Published: June 2023

IntroductionPolice officers must perform various tasks in unpredictable work environments and potentially volatile situations. This study aimed to determine if cardiovascular fitness, body composition, and physical activity levels could predict performance in a Midwest Police Department’s Physical Readiness Assessment (PRA).MethodsResearchers collected data from thirty incumbent police officers (33.9 ± 8.3 years, female = 5). Anthropometric data included height, body mass, body fat percentage (BF%), fat-free mass (FFM), and maximal hand grip strength. The police officers also completed a physical activity rating (PA-R) scale to estimate maximal oxygen consumption (V˙O2max) and the International Physical Activity Questionnaire (IPAQ). Police officers then conducted their department’s PRA. Stepwise linear regression analyses were used to determine the relationship between predictor variables and PRA performance. Pearson’s product-moment correlations investigated relationships between anthropometric, physical fitness, and physical activity variables and PRA performance using SPSS (v.28). The significance level was set at p &lt; 0.05.ResultsDescriptive data for the sample includes BF%: 27.85 ± 7.57%, FFM: 65.73 ± 10.72 kg, hand grip strength: 55.51 ± 11.07 kg, weekday sedentary time (WST): 328 ± 28.26 min, weekend day sedentary time (WDST): 310 ± 28.92 min, daily moderate-to-vigorous physical activity (MVPA): 29.02 ± 39.41 min, PRA: 273.6 ± 51.4 s and estimated V˙O2max: 43.26 ± 6.35 mL kg−1 min−1. The stepwise regression analyses indicated that BF% was predictive of PRA time (R2 = 0.32, p &lt; 0.01); estimated V˙O2max predictive of PRA time (R2 = 0.45, p &lt; 0.001). There were significant correlations between BF % and PRA time (r = 0.57, p &lt; 0.001), PA-R and MVPA (r = 0.71, p &lt; 0.001), %BF % and WDST (r = −0.606, p &lt; 0.001), hand grip and FFM (r = 0.602, p &lt; 0.001) and PA-R and PRA time (r = −0.36, p &lt; 0.05).DiscussionThe results of this exploratory study highlight that higher estimated V˙O2max and lower BF% were the best predictors for faster PRA completion times, accounting for 45% and 32% of the variance, respectively. The findings of this study support the need for wellness and fitness initiatives in law enforcement agencies focused on increasing cardiovascular fitness and physical activity while decreasing BF% to ensure optimal performance in policing and overall health.
Explainable online health information truthfulness in Consumer Health Search
Authors: Upadhyay Rishabh , Knoth Petr , Pasi Gabriella , Viviani Marco 
Published: June 2023

IntroductionPeople are today increasingly relying on health information they find online to make decisions that may impact both their physical and mental wellbeing. Therefore, there is a growing need for systems that can assess the truthfulness of such health information. Most of the current literature solutions use machine learning or knowledge-based approaches treating the problem as a binary classification task, discriminating between correct information and misinformation. Such solutions present several problems with regard to user decision making, among which: (i) the binary classification task provides users with just two predetermined possibilities with respect to the truthfulness of the information, which users should take for granted; indeed, (ii) the processes by which the results were obtained are often opaque and the results themselves have little or no interpretation.MethodsTo address these issues, we approach the problem as anad hocretrieval task rather than a classification task, with reference, in particular, to the Consumer Health Search task. To do this, a previously proposed Information Retrieval model, which considers information truthfulness as a dimension of relevance, is used to obtain a ranked list of both topically-relevant and truthful documents. The novelty of this work concerns the extension of such a model with a solution for the explainability of the results obtained, by relying on a knowledge base consisting of scientific evidence in the form of medical journal articles.Results and discussionWe evaluate the proposed solution both quantitatively, as a standard classification task, and qualitatively, through a user study to examine the “explained” ranked list of documents. The results obtained illustrate the solution's effectiveness and usefulness in making the retrieved results more interpretable by Consumer Health Searchers, both with respect to topical relevance and truthfulness.
QAnon, authoritarianism, and conspiracy within American alternative spiritual spaces
Authors: Conner Christopher T. 
Published: June 2023

IntroductionQAnon, in the United States, has become something of household name due to its role in the January 6th insurrection, and because of the relatively high degree of media attention it has received. While such coverage has been useful in understanding this conspiracy movement, it has also painted a picture of QAnon that is incomplete.MethodsUsing a qualitative ethnographic approach I analyzed 1,000 hours of QAnon content produced by 100 QAnon influencers. I created a database of 4,104 images (tweets, screenshots, and other static forms of communication) and 122 videos.ResultsWe found three separate cultural entry points not typically associated with the movement—Yoga and Wellness Groups, Neo-Shamanistic circles, and Psychics. By colonizing these spaces QAnon was able to embed itself, disguise its abrasive features, and go largely unnoticed by the general public.DiscussionThis study reminds us that authoritarianism can take root in a variety of spaces, and that within each of us lie potentially fascistic tendencies—even those seeking enlightenment, through alternative practices.