bluuebunny/crossref_metadata_2025_split huggingface dataset:
Creating Case Studies for Digital Health and Technology Competency in Nursing
Authors: Kunkel Dorcas E. , Tietze Mari F. , Wilson Marisa , Fant Catherine T. , Rivard Mary Jane , Belchez Chito A. , Forman Tracia M. , Husson Nancy M. 
Published: May 2023

Background:
Nursing programs and their faculty must ensure that graduates have the informatics, digital health, and health care technologies competencies needed by health systems.

Problem:
A gap exists in nursing faculty knowledge, skills, and abilities for incorporating informatics, digital health, and technologies across curricula because of low focus on this area in faculty development initiatives and rapid adoption and evolution of technologies in health care systems.

Approach:
The Nursing Knowledge Big Data Science initiative Education Subgroup used a process to create case studies for including informatics, digital health, and the concomitant clinical reasoning/critical thinking competencies across curricula.

Outcomes:
Three case study examples were created using the process.

Conclusions:
The process for creating case studies that incorporate required informatics, digital health, and health care technologies can be used by nursing educators for teaching across their curricula and to assess student competency.
A Rare Case of Fatal Penile Strangulation in a Transgender Woman
Authors: Glensor Devan C. , Guan J. Jun 
Published: May 2023

Abstract
Penile strangulation is a surgical emergency with significant morbidity and potential mortality. It is often associated with psychiatric disorders; objects such as metal rings, plastic bottles, and rubber bands are commonly used. The San Francisco Office of the Chief Medical Examiner was presented with a 50-year-old transgender female decedent with a medical history of psychiatric and substance use disorders. Autopsy revealed external genitalia entrapped by a plastic bottle encircling the penile shaft at the base, causing severe edema and skin blebs of the penile shaft and glans, and evidence of urinary obstruction. We describe the accidental death of an adult transgender female decedent due to penile strangulation, which ultimately led to acute renal failure and death.
An Atypical Asphyxial Death
Authors: Blumenthal Ryan , Ferraris Stefanie Claudia 
Published: May 2023

Abstract
An atypical asphyxial death is presented. The deceased was found wrapped like a mummy with multiple layers of plastic and adhesive tape, lying face down on the floor of his home. The death scene was in the lounge area of a large, poorly-kempt, free-standing house. No obvious evidence of illicit drugs or other medications were identified. There was no pornographic material or other paraphernalia of a sexual nature in proximity to the body. According to the brother, the deceased had attempted similar incidents like this in the past, where someone was available to release him.
Because of the similar behaviour in the past, the background psychiatric history, and statements from the girlfriend and relatives, the authors propose that this represents an atypical asphyxia death.
Gadoxetic Acid–Enhanced Liver MRI
Authors: Ichikawa Shintaro , Goshima Satoshi 
Published: May 2023

Abstract
Since its introduction in the worldwide medical market, gadoxetic acid has attracted considerable interest. The year 2023 marks the 15th anniversary of the introduction of gadoxetic acid in Japan. Gadoxetic acid–enhanced magnetic resonance imaging (GA-MRI) is the predominantly performed contrast MRI examination for the liver. Its most essential characteristic, namely, the hepatobiliary phase, revolutionized the clinical management of liver disease. Gadoxetic acid–enhanced MRI is currently the most efficient method for focal liver lesion detection and analysis. Meta-analyses demonstrated its excellent effectiveness for the diagnosis of hepatocellular carcinoma and liver metastases. Owing to the extensive usage of gadoxetic acid, a hepatobiliary phase hypointense nodule without arterial phase hyperenhancement is well documented. The existence of such nodules may be a sign of hypervascular hepatocellular carcinoma in nodules and other areas in the liver. Apart from its role in tumor identification and characterization, GA-MRI can help assess response to therapy and liver fibrosis. Therefore, it is proposed to use gadoxetic acid as the first option for MRI of the liver in the majority of patients. The efficacy of gadoxetic acid surpasses its disadvantages, rendering this contrast agent the preferred choice for routine MRI of the liver. The clinical use of GA-MRI is discussed in this review article.
Unveiling Breast Cancer Risk Profiles: A Comprehensive Survival Clustering Analysis Empowered by an Online Web Application for Personalized Medicine
Authors: Gu Yuan , Wang Mingyue , Gong Yishu , Jiang Song , Li Chen , Zhang Dan 
Published: May 2023

AbstractOnline tools, such as web-based applications, aid medical doctors in recommending treatments and conducting thorough patient profile investigations. Prior studies have created web-based survival analysis tools for cancer survival. However, these often offer basic features and simplistic models, providing shallow data insights. Our research involves an in-depth risk profile analysis using survival clustering on real-world data. We’ve developed a user-friendly Shiny application to simplify the use of our findings. By utilizing survival clustering, we uncover distinct subgroups and unique risk profiles among breast cancer patients. Our online app empowers researchers and clinicians to explore and gain insights into breast cancer risk profiles, enhancing personalized medicine and clinical decision-making.
Ultra-rarede novodamaging coding variants are enriched in attention-deficit/hyperactivity disorder and identify risk genes
Authors: Olfson Emily , Farhat Luis C. , Liu Wenzhong , Vitulano Lawrence A. , Zai Gwyneth , Lima Monicke O. , Parent Justin , Polanczyk Guilherme V. , Cappi Carolina , Kennedy James L. , Fernandez Thomas V. 
Published: May 2023

AbstractAttention-deficit/hyperactivity disorder (ADHD) is a common and impairing neurodevelopmental disorder in which genetic factors play an important role. DNA sequencing of parent-child trios provides a powerful approach for identifyingde novo(spontaneous) variants, which has led to the discovery of hundreds of clinically informative risk genes for other neurodevelopmental disorders but has yet to be extensively leveraged in studying ADHD. Here, we conducted whole-exome DNA sequencing in 152 parent-child trios with ADHD and demonstrate for the first time a significant enrichment of rare and ultra-rarede novoprotein-truncating variants and missense variants predicted to be damaging in ADHD cases compared to unaffected controls. Combining these results with a large independent case-control DNA sequencing cohort (3,206 ADHD cases and 5,002 controls), we identifylysine demethylase 5B(KDM5B)as a high-confidence risk gene for ADHD as well as two likely risk genes. We estimate that 862 genes contribute to ADHD risk. Finally, using our list of genes harboring ultra-rarede novodamaging variants, we show that these genes overlap with previously reported risk genes for other neuropsychiatric conditions in both DNA sequencing and genome-wide association studies. We also show that these genes are enriched for several canonical biological pathways, suggesting early neurodevelopmental underpinnings of ADHD. Overall, this work provides critical new insight into the biology of ADHD and demonstrates the discovery potential of DNA sequencing in larger parent-child trio cohorts.Significance statementGiven the important role of genetic factors in the development of attention-deficit/hyperactivity disorder (ADHD), research aimed at identifying risk genes can provide critical insight into underlying biological processes. We conducted whole-exome DNA sequencing in parent-child trios with ADHD, showing that these children have a significantly greater rate of rare and ultra-rarede novogene-damaging mutations compared to unaffected controls, expanding our understanding of the genetic landscape of ADHD. We then use this information to identifyKDM5Bas a high-confidence risk gene for ADHD and highlight several enriched biological pathways. This work advances our etiologic understanding of ADHD and illustrates a previously unexplored path for risk gene discovery in this common neurodevelopmental disorder.
Shipment Stress in Early Life Aggravates Disease Pathogenesis in Mice with Experimental Autoimmune Encephalomyelitis: Support for a Two-Hit Hypothesis of Multiple Sclerosis Etiology
Authors: Faraji Jamshid , Bettenson Dennis , Yong V. Wee , Metz Gerlinde A. S. 
Published: May 2023

AbstractVisual impairments are one of the earliest diagnosed symptoms of multiple sclerosis (MS). The onset and progression of vision loss in MS may be influenced by cumulative psychophysiological stress. Here, we used a two-hit model of stress in female mice to determine if early life stress (ELS) influences the clinical severity of experimental autoimmune encephalomyelitis (EAE) later in life. We hypothesized that ELS caused by animal transportation during early postnatal development represents a co-factor which can exacerbate the disease severity of EAE. Adult EAE mice with ELS displayed more severe clinical signs and delayed recovery compared to non-stressed EAE mice. ELS also diminished visual acuity measured by optokinetic responses, locomotion and exploratory behaviours in EAE mice. Notably, ELS caused earlier onset of visual impairments in EAE. Exacerbated functional impairments in stressed EAE mice were highly correlated with circulating corticosterone levels. The findings show that the progression of induced EAE (second hit) in adulthood can be significantly impacted by adverse early life experiences (first hit). The observations emphasize the importance of comprehensive behavioural testing, including non-motor functions, to enhance the translational value of preclinical animal models of MS. Moreover, shipment stress of laboratory animals should be considered a necessary variable in preclinical MS research. The consideration of cumulative lifetime stresses provides a new perspective of MS pathogenesis within a personalized medicine framework.
Phenotypic defects from the expression of wild-type and pathogenic TATA-Binding Proteins in newDrosophilamodels of Spinocerebellar Ataxia Type 17
Authors: Patel Nikhil , Alam Nadir , Libohova Kozeta , Dulay Ryan , Todi Sokol V. , Sujkowski Alyson 
Published: May 2023

ABSTRACTSpinocerebellar Ataxia Type 17 (SCA17) is the most recently identified member of the polyglutamine (polyQ) family of disorders, resulting from abnormal CAG/CAA expansion of TATA box binding protein (TBP), an initiation factor essential for of all eukaryotic transcription. A largely autosomal dominant inherited disease, SCA17 is unique in both its heterogeneous clinical presentation and low incidence of genetic anticipation, the phenomenon in which subsequent generations inherit longer polyQ expansions that yield earlier and more severe symptom onset. Like other polyQ disease family members, SCA17 patients experience progressive ataxia and dementia, and treatments are limited to preventing symptoms and increasing quality of life. Here, we report two newDrosophilamodels that express human TBP with polyQ repeats in either wild-type or SCA17 patient range. We find that TBP expression has age- and tissue-specific effects on neurodegeneration, with polyQ expanded SCA17 protein expression generally having more severe effects. In addition, SCA17 model flies accumulate more aggregation prone TBP, with a greater proportion localizing to the nucleus. These new lines provide a new resource for the biochemical characterization of SCA17 pathology and the future identification of therapeutic targets.
The Effect of Postnatal Care on the Postpartum Contraceptive Use in Ethiopia: A Systematic Review and Meta-analysis
Authors: Yemane Tesfalem Tilahun , Mera Mengestu , Kassa Abebe , Tadesse Nigusie 
Published: May 2023

AbstractBackgroundPostpartum contraceptive use is an essential aspect of maternal and child health. The use of contraception after childbirth is a critical step in ensuring healthy spacing between births, reducing maternal and infant mortality. However, it is often observed that the use of postpartum contraception is low. In this context, postnatal care (PNC) visits are an important opportunity to promote postpartum contraceptive use. Therefore, the aim of this review is to examine the effect of postnatal visits on the utilization of postpartum contraceptive use.MethodsWe conducted a systematic review and meta-analysis of published and unpublished studies. Pub Med, HINARI, Science direct, Cochrane Library, ETH Library and Google Scholar were used to search all articles. For data analysis, STATA 14 software was used. Funnel plots and Egger’s test were used to examine the risk of publication bias. Heterogeneity was checked by using Cochran’s-Q test and I2test. Random effect model was computed to estimate the pooled prevalence.ResultsThe finding of the present systematic review and meta-analysis indicated that having postnatal care visits increase the utilization of postpartum modern contraceptive [pooled effect size 2.92 (95% CI, 2.21, 3.881)]. Postnatal care can provide critical information and support to women during the postpartum period, including information about family planning and contraceptive options.ConclusionThe utilization of postpartum contraception is a critical aspect of maternal and child health. Postnatal care visits provide an opportunity to promote postpartum contraceptive use. During these visits, healthcare providers can provide information on the available contraceptive methods, counsel women on the benefits and risks of each method, and assist in the selection of a suitable method.PROSPERO Registration NumberCRD42020156574
Fgf10mutant newts can regenerate normal limbs despite severe developmental hindlimb defects
Authors: Suzuki Miyuki , Okumura Akinori , Shibata Yuki , Endo Tetsuya , Teramoto Machiko , Chihara Akane , Agata Kiyokazu , Bronner Marianne E. , Suzuki Ken-ichi T. 
Published: May 2023

AbstractIn the amniote limb, FGF10 is essential for limb bud initiation and outgrowth. However, whether this function is broadly conserved in tetrapods and/or involved in adult limb regeneration remains unknown. To tackle this question, we established anFgf10null mutant line in the newtPleurodeles waltlwhich have amazing regenerative ability. WhileFgf10mutant forelimbs develop normally, the hindlimbs exhibit severe digit reduction, fail to ossify the zeugopod, and downregulate FGF target genes likeSall1, Runx1andHoxa11/d11. Despite these developmental defects,Fgf10mutants were able to regenerate near-normal hindlimbs. Together, our results suggest an important role forFgf10in hindlimb digit formation and zeugopod ossification during development, but little or no function in regeneration, suggesting that different mechanisms operate during limb regeneration versus development.
Overexpression of an apple broad range agglutinating lectin does not promotein plantaresistance to fire blight and bacterial wilt
Authors: Bodelot Antoine , Chavonet Erwan , Brisset Marie Noelle , Dousset Nicolas , Ravon Elisa , Heintz Christelle , Berthomé Richard , Zaffuto Matilda , Kempf Marie , Foulon Mélanie , Marion Estelle , Vergne Emilie , Degrave Alexandre 
Published: May 2023

AbstractLectins, a large group of proteins present in all kingdoms of life can bind reversibly to glycans. The roles of plant lectins are diverse and include resistance to biotic or abiotic stress, notably bacterial resistance. A gene family encoding amaranthin-like lectins termed MdAGGs in apple (Malus domestica) has been identified to be overexpressed upon treatment with the plant resistance inducer acibenzolar-S-methyl (ASM) which promotes enhanced resistance to the fire blight disease caused byErwinia amylovora(Ea). In this study, we first screened the ability of purified MdAGG10 to agglutinate bacterial cellsin vitroamong a range of bacterial species. Several bacterial species, either Gram positive or negative, either plant- or human-pathogens were found to be agglutinated by MdAGG10 in acidic conditions. Apple and Arabidopsis lines constitutively overexpressingMdAGG10were generated and evaluated for their resistance to, respectively,EaandRalstonia solanacearum, both plant pathogens that were found in our screening. Despite MdAGG10 protein accumulated in tissues of both apple and Arabidopsis lines, they remained susceptible to their respective pathogens. Interestingly,in vitroagglutination ofEaby MdAGG10 did not impair bacterial growth, suggesting that other plant molecules are involved in the resistance to fire blight triggered after an ASM treatment.
The Duality of Adiponectin and the Role of Sex in Atherosclerosis
Authors: Cullen Abigail E. , Centner Ann Marie , Deitado Riley , Ukhanov Vladimir , Ismaeel Ahmed , Koutakis Panagiotis , Delp Judy , Salazar Gloria 
Published: May 2023

AbstractAdiponectin, a hormone highly abundant in circulation, has many beneficial effects in atherosclerosis; however, gene deficiency of this hormone or its receptor have shown detrimental effects on plaque burden in mice. Our objective was to understand the role of sex and aging in the effects of adiponectin deficiency on plaque content, inflammation, and the mechanisms regulating the phenotype ofadipoq-/-vascular smooth muscle cells (VSMCs). Even a 50% reduction in the expression of adiponectin led to a plaque reduction in males and an increase in females, compared withapoe-/-controls. Plaque reduction may be attributable to chemokines upregulated in males and downregulated in females. Changes in plaque were not attributed to changes in cholesterol or cardiovascular disease (CVD) markers. In old mice, both genotypes and sexes accumulated more plaque thanapoe-/-. RNA sequencing of VSMCs from male mice in vitro uncovered a critical role for adiponectin in AKT signaling, regulation of the extracellular matrix, and TGF-β signaling. Upregulation of AKT activity mediated proliferation and migration ofadipoq-/-cells. Activation of AMPK with metformin or AdipoRon reduced AKT-dependent proliferation and migration ofadipoq-/-cells but did not improve the expression of contractile genes. Anti-atherogenic mechanisms targeted the ECM inadipoq-/-cells, downregulating MMP2 and 9 and upregulating decorin.Our study uncovered sex and age-dependent effects of adiponectin deficiency in atherosclerosis.
KDM5-mediated activation of genes required for mitochondrial biology is necessary for viability inDrosophila
Authors: Rogers Michael F , Marshall Owen J , Secombe Julie 
Published: May 2023

ABSTRACTThe precise coordination of gene expression is critical for developmental programs, and histone modifying proteins play important, conserved roles in fine-tuning transcription for these processes. One such family of proteins are KDM5 enzymes that interact with chromatin through demethylating H3K4me3 as well as demethylase-independent mechanisms that remain less understood. The singlekdm5ortholog inDrosophilais an essential gene that has crucial developmental roles in a neuroendocrine tissue, the prothoracic gland. To characterize the regulatory functions of KDM5, we examined its role in coordinating gene expression programs critical to cellular homeostasis and organismal viability in larval prothoracic gland cells. Utilizing targeted genetic experiments, we analyzed the relationship between critical cell signaling pathways, particularly MAPK, and the lethality caused by loss ofkdm5. Integrating KDM5 genome binding and transcriptomic data revealed conserved and tissue-specific transcriptional programs regulated by KDM5. These experiments highlighted a role for KDM5 in regulating the expression of a set of genes critical for the function and maintenance of mitochondria. This gene expression program is key to the essential functions of KDM5, as expression of the mitochondrial biogenesis transcription factor Ets97D/Delg, theDrosophilahomolog of GABPα, in prothoracic gland cells suppressed the lethality ofkdm5null animals. Consistent with this, we observed morphological changes to mitochondria in the prothoracic gland ofkdm5null mutant animals. Together, these data establish KDM5-mediated cellular functions that are both important for normal development and could also contribute to KDM5-linked disorders when dysregulated.
sncRNAP: Prediction and profiling of full sncRNA repertoires from sRNAseq data
Authors: Gibriel Hesham A. Y. , Baindoor Sharada , Slack Ruth S. , Prehn Jochen H. M. 
Published: May 2023

AbstractMotivationNon-coding RNAs (ncRNAs), which include long non-coding RNAs (lncRNAs) and small non-coding RNAs (sncRNAs), have been shown to play essential roles in various biological processes. Over the past few years, a group of sncRNA identification tools have been developed but none has shown the capacity to fully profile and accurately identify those that are differentially expressed in control vs treated samples. Therefore, a tool that fully profiles and identifies differentially expressed sncRNAs in group comparisons is required.ResultsWe developed sncRNAP, a Nextflow pipeline for the profiling and identification of differentially abundant sncRNAs from sRNAseq datasets. sncRNAP primary use case is the comparison of multiple small RNA-seq datasets belonging to two conditions such as the comparison of treatment (T) and control (C) cohorts. sncRNAP can be used to analyze human, mouse, and rat datasets. The pipeline carries out all the steps required to assess raw sequencing data, performs differential gene expression (DE) analysis, profiles sncRNAs in each sample, and outputs TXT, PDF, CSV, and interactive HTML files for the quality score and the top identified sncRNA candidates. We verified sncRNAP on publicly available sRNAseq datasets in chronic hepatitis-infected liver tissue and pancreatic ductal adenocarcinoma (PDAC) datasets. Our results support the identification of Val[C/A]AC in hepatitis patients and miR135b in PDAC as potential disease biomarkers. Furthermore, we applied sncRNAP on mouse samples from control and Opa1 mouse mutants and identified AspGTC, ValAAC, SerTGA, and AspGTC as the top DE tsRNAs. In addition, sncRNAP identified mmu-miR-136-5p, mmu-miR-10b-5p, mmu-miR-351-5p, and mmu-miR-6390 as the top DE miRNA candidates.
Modulation of functional phosphorylation sites by basic residues in the Unique domain of c-Src
Authors: Lang Andras , Fernández Alejandro , Diaz-Lobo Mireia , Vilanova Mar , Cárdenas Francisco , Gairí Margarida , Pons Miquel 
Published: May 2023

AbstractIn contrast to the well-studied canonical regulatory mechanisms, the way by which the recently discovered Src N-terminal regulatory element (SNRE) modulates Src activity is not yet well understood. Phosphorylation of serine and threonine residues modulate the charge distribution along the disordered region of the SNRE and may affect a fuzzy complex with the SH3 domain that is believed to act as an information transduction element. The preexisting positively charged sites can interact with the newly introduced phosphate groups by modulating their acidity, introducing local conformational restrictions, or coupling various phosphosites into a functional unit. In this paper we use pH dependent NMR measurements combined with single point mutations to identify the interactions of basic residues with physiologically important phosphorylated residues and to characterize the effect of these interactions in neighbor residues, thus providing insight on the electrostatic network in the isolated disordered regions and in the entire SNRE. From a methodological point of view, the linear relationship observed between the mutation induced pKa changes of the phosphate groups of phosphoserine and phosphothreonine and the pH induced chemical shifts of the NH groups of these residues provides a very convenient alternative to identify interacting phosphate groups without the need to introduce point mutations on specific basic residues.