bluuebunny/crossref_metadata_2025_split huggingface dataset:
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
Authors: Mooney Ryan , Wu Yelena P. , Kehoe Kelsey , Volkmar Molly , Kohlmann Wendy , Koptiuch Cathryn , Kaphingst Kimberly A 
Published: December 2023

Abstract
Background
Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is limited understanding of patient experiences after initial testing and counseling, the barriers or facilitators they experience adhering to recommendations, and how they want to receive information over time.

Methods
A cross-sectional, observational study was conducted among 127 probands and family members who had received genetic testing for Lynch Syndrome. We conducted semi-structured interviews to determine proband and family member experiences after receiving genetic testing results including their surveillance and screening practices, information needs, and interactions with health care providers. Both closed-ended and open-ended data were collected and analyzed.

Results
Both probands (96.9%) and family members (76.8%) received recommendations for follow-up screening and all probands (100%) and most family members (98.2%) who tested positive had completed at least one screening. Facilitators to screening included receiving screening procedure reminders and the ease of making screening and surveillance appointments. Insurance coverage to pay for screenings was a frequent concern especially for those under 50 years of age. Participants commented that their primary care providers were often not knowledgeable about Lynch Syndrome and surveillance recommendations; this presented a hardship in navigating ongoing surveillance and updated information. Participants preferred information from a knowledgeable health care provider or a trusted internet source over social media or support groups.

Conclusions
Probands and family members receiving genetic testing for Lynch Syndrome generally adhered to initial screening and surveillance recommendations. However, factors such as insurance coverage and difficulty finding a knowledgeable healthcare provider presented barriers to receiving recommended follow-up care. There is an opportunity to improve care through better transitions in care, procedures to keep primary care providers informed of surveillance guidelines, and practices so that patients receive reminders and facilitated appointment setting for ongoing screening and surveillance at the time they are due.
A super-pangenome of the North American wild grape species
Authors: Cochetel Noé , Minio Andrea , Guarracino Andrea , Garcia Jadran F. , Figueroa-Balderas Rosa , Massonnet Mélanie , Kasuga Takao , Londo Jason P. , Garrison Erik , Gaut Brandon S. , Cantu Dario 
Published: December 2023

Abstract
Background
Capturing the genetic diversity of wild relatives is crucial for improving crops because wild species are valuable sources of agronomic traits that are essential to enhance the sustainability and adaptability of domesticated cultivars. Genetic diversity across a genus can be captured in super-pangenomes, which provide a framework for interpreting genomic variations.

Results
Here we report the sequencing, assembly, and annotation of nine wild North American grape genomes, which are phased and scaffolded at chromosome scale. We generate a reference-unbiased super-pangenome using pairwise whole-genome alignment methods, revealing the extent of the genomic diversity among wild grape species from sequence to gene level. The pangenome graph captures genomic variation between haplotypes within a species and across the different species, and it accurately assesses the similarity of hybrids to their parents. The species selected to build the pangenome are a great representation of the genus, as illustrated by capturing known allelic variants in the sex-determining region and for Pierce’s disease resistance loci. Using pangenome-wide association analysis, we demonstrate the utility of the super-pangenome by effectively mapping short reads from genus-wide samples and identifying loci associated with salt tolerance in natural populations of grapes.

Conclusions
This study highlights how a reference-unbiased super-pangenome can reveal the genetic basis of adaptive traits from wild relatives and accelerate crop breeding research.
Incidence, distribution, disease spectrum, and genetic deficits of congenital heart defects in China: implementation of prenatal ultrasound screening identified 18,171 affected fetuses from 2,452,249 pregnancies
Authors: Chen Xinlin , Zhao Sheng , Dong Xiaoyan , Liu Juntao , Guo Yulin , Ju Weina , Chen Peiwen , Gao Yanduo , Feng Qian , Zhu Xia , Huang Hui , Lu Xiaojun , Yang Xiaohong , Yang Fan , Cheng Chen , Luo Xishun , Cheng Longxian , Zhong Nanbert ,   On behalf of the Chinese Consortium for Prenatal Ultrasound Screening of Congenital Heart Defects
Published: December 2023

Abstract
Background
Congenital heart defects (CHDs) are the most common birth defects. Assessment of the incidence, distribution, disease spectrum, and genetic deficits of fetal CHDs in China is urgently needed.

Methods
A national echocardiography screening program for fetal CHDs was implemented in 92 prenatal screening–diagnostic centers in China.

Findings
A total of 18,171 fetal CHD cases were identified from 2,452,249 pregnancies, resulting in 7·4/1,000 as the national incidence rate of fetal CHD. The incidences of fetal CHD in the six geographical regions, the southern, central, eastern, southwestern, northern, and northwestern, were 7·647 (CI: 7·383–7·915), 7·839 (CI: 7·680–8·000), 7·647 (CI: 7·383–7·915), 7·562 (CI: 7·225–7·907), 5·618 (CI: 5·337–5·906), and 4·716 (CI: 4·341–5·108), respectively, per 1,000 pregnancies. Overall, ventricular septal defect was the most common fetal CHD, accounting for 17.04% of screened pregnancies nationwide, and tetralogy of Fallot, the most common anomaly in the major defect of fetal CHD, was the second most common, accounting for 9.72%. A total of 76.24% cases of fetal CHD were found to be an isolated intracardiac single defect. The remaining 23.76% of cases of fetal CHD had multiple heart defects. Among all extracardiac malformations, the central nervous system (CNS) was the most common tissue with extracardiac anomalies associated with CHD, accounting for 22.89% of fetal CHD cases. Chromosomal karyotyping identified trisomy 18 as the most common chromosomal abnormality in fetal CHD. We also documented that CHD-containing syndromes could be identified with a comprehensive approach integrating prenatal ultrasound, MRI, pathological autopsy, and cytogenetics and molecular genetics.

Conclusion
Implementation of prenatal echocardiography as a practically feasible platform to screen fetal CHD will reduce the financial and emotional burden of CHD, which may facilitate intrauterine and neonatal intervention of CHD.
Association between parental smoking and child exposure to environmental tobacco smoke in Israel
Authors: Berman Tamar , Rorman Efrat , Groisman Luda , Keinan-Boker Lital , Shimony Tal , Barnett-Itzhaki Zohar 
Published: December 2023

Abstract
Background
Environmental tobacco smoke (ETS) exposure in children can cause delayed lung development and lifelong cardiovascular damage. The aim of this study was to measure ETS exposure in children in Israel in 2020–2021 using urinary cotinine (UC) measurements and to assess correlates of ETS exposure, including parental smoking.

Methods
In the framework of the National Human Biomonitoring Program, spot urine samples and questionnaire data were collected from 166 children aged 4–12 years, during the years 2020–2021. We collected urine samples in 233 adults, 69 of whom were parents of children included in the study. Parents of participating children were asked about parental smoking, child’s exposure to ETS and smoking policy at home. Cotinine and creatinine were measured in urine. Creatinine-adjusted and unadjusted urine cotinine (UC) geometric means were calculated. Associations between potential correlates and UC concentrations were analyzed in univariate and multivariate analyses. For 69 child-parent pairs, correlation between child and parental UC was analyzed.

Results
Based on urinary cotinine measurement, 65.2% of children of smokers are exposed to ETS, compared to 20.7% of children in non-smoking families. Greater numbers of smokers living in the home (beta = 1.27, p < 0.01), and low maternal education (beta = − 2.32, p < 0.01) were associated with higher levels of UC in a multivariate analysis. Spearman correlations showed a positive moderate correlation between UC in 69 child–parent pairs (r = 0.52, p < 0.01).

Conclusions
In order to reduce child exposure to ETS, smoking parents should be urgently targeted for smoking cessation and smoke-free home interventions. Further interventions are needed to protect all children from ETS.
Lithium prescription trends in psychiatric inpatient care 2014 to 2021: data from a Bavarian drug surveillance project
Authors: Kriner Paul , Severus Emanuel , Korbmacher Julie , Mußmann Lisa , Seemueller Florian 
Published: December 2023

Abstract
Objectives
Lithium (Li) remains one of the most valuable treatment options for mood disorders. However, current knowledge about prescription practices in Germany is limited. The objective of this study is to estimate the prevalence of current Li use over time and in selected diagnoses, highlighting clinically relevant aspects such as prescription rates in elderly patients, concomitant medications, important drug–drug interactions, and serious adverse events.

Methods
We conducted a descriptive analysis of Li prescriptions, analyzing data from the ongoing Bavarian multicenter drug safety project Pharmaco-Epidemiology and Vigilance (Pharmako-EpiVig) from the years 2014–2021. Our study included 97,422 inpatients, 4543 of whom were prescribed Li.

Results
The Li prescription rate in unipolar depression (UD) remained constant at 4.6% over the observational period. In bipolar disorder (BD), the prescription rate increased significantly from 28.8% in 2014 to 34.4% in 2019. Furthermore, 30.3% of patients with Li prescriptions did not have a diagnosis of BD or UD, and 15.3% of patients with schizoaffective disorder were prescribed Li. The majority (64%) of patients with Li prescriptions were prescribed five or more drugs. Most of the 178 high-priority drug–drug interactions were due to hydrochlorothiazide (N = 157) followed by olmesartan (N = 16).

Conclusion
Our study does not substantiate concerns about a decline in Li prescription. The decline in prescription rates observed in some diagnostic groups in 2020 and 2021 may be associated with the COVID-19 pandemic. The symptom-oriented use of Li beyond BD and UD is common. Polypharmacy and drug–drug interactions present a challenge in Li therapy. Old age and comorbid substance use disorder do not appear to be major deterrents for clinicians to initiate Li therapy.
Aspect-level sentiment classification with fused local and global context
Authors: Feng Ao , Cai Jiazhi , Gao Zhengjie , Li Xiaojie 
Published: December 2023

AbstractSentiment analysis aims to determine the sentiment orientation of a text piece (sentence or document), but many practical applications require more in-depth analysis, which makes finer-grained sentiment classification the ideal solution. Aspect-level Sentiment Classification (ALSC) is a task that identifies the emotional polarity for aspect terms in a sentence. As the mainstream Transformer framework in sentiment classification, BERT-based models apply self-attention mechanism that extracts global semantic information for a given aspect, while a certain proportion of local information is missing in the process. Although recent ALSC models have achieved good performance, they suffer from robustness issues. In addition, uneven distribution of samples greatly hurts model performance. To address these issues, we present the PConvBERT (Prompt-ConvBERT) and PConvRoBERTa (Prompt-ConvRoBERTa) models, in which local context features learned by a Local Semantic Feature Extractor (LSFE) are fused with the BERT/RoBERTa global features. To deal with the robustness problem of many deep learning models, adversarial training is applied to increase model stability. Additionally, Focal Loss is applied to alleviate the impact of unbalanced sample distribution. To fully explore the ability of the pre-training model itself, we also propose natural language prompt approaches that better solve the ALSC problem. We utilize masked vector outputs of templates for sentiment classification. Extensive experiments on public datasets demonstrate the effectiveness of our model.
Filament-free memristors for computing
Authors: Choi Sanghyeon , Moon Taehwan , Wang Gunuk , Yang J. Joshua 
Published: December 2023

AbstractMemristors have attracted increasing attention due to their tremendous potential to accelerate data-centric computing systems. The dynamic reconfiguration of memristive devices in response to external electrical stimuli can provide highly desirable novel functionalities for computing applications when compared with conventional complementary-metal–oxide–semiconductor (CMOS)-based devices. Those most intensively studied and extensively reviewed memristors in the literature so far have been filamentary type memristors, which typically exhibit a relatively large variability from device to device and from switching cycle to cycle. On the other hand, filament-free switching memristors have shown a better uniformity and attractive dynamical properties, which can enable a variety of new computing paradigms but have rarely been reviewed. In this article, a wide range of filament-free switching memristors and their corresponding computing applications are reviewed. Various junction structures, switching properties, and switching principles of filament-free memristors are surveyed and discussed. Furthermore, we introduce recent advances in different computing schemes and their demonstrations based on non-filamentary memristors. This Review aims to present valuable insights and guidelines regarding the key computational primitives and implementations enabled by these filament-free switching memristors.
Impact of HBcrAg levels on HBsAg seroconversion after HBV rebound: a case report
Authors: Ohkubo Maki , Fukuda Kuniaki , Chiba Shigeru , Homma Masato 
Published: December 2023

Abstract
Background
Nucleoside analogues (NAs) such as entecavir are required for at least 12 months when patients with resolved hepatitis B virus (HBV) infection develop HBV reactivation. Entecavir treatment does not always achieve hepatitis B surface antigen (HBsAg) seroconversion. The cessation of NA for HBV reactivation sometimes causes HBV rebound. The impact of hepatitis B core-related antigen (HBcrAg) on predicting HBV rebound is controversial.

Case presentation
A 67-year-old woman with resolved HBV infection received rituximab for post-transplant lymphoproliferative disorder after peripheral blood stem cell transplantation. Since she tested positive for HBV-DNA after the first rituximab therapy (day 0), entecavir treatment was started. Because the HBV-DNA test became negative and her liver function had been normal, entecavir was terminated on day 376. According to the retrospective measurements, HBcrAg remained positive while the HBV-DNA level was undetectable. One hundred forty-one days after entecavir cessation, the HBV-DNA turned positive again, suggesting HBV rebound (day 517). Her liver function deteriorated and HBV infection worsened, even though entecavir treatment was resumed on day 615. On the contrary, hepatitis B surface antibody levels increased after the rebound, resulting in HBsAg seroconversion with HBcrAg and HBV-DNA levels undetectable. HBV reactivation has not been detected after the second entecavir cessation, and both HBcrAg and HBV-DNA levels remained undetectable.

Discussion and conclusions
This case suggests that NA cessation induced-HBV rebound achieved HBsAg seroconversion under the guidance of a hepatologist. Since HBcrAg had been detectable while HBV-DNA was undetectable, HBcrAg may be an index for predicting HBV rebound resulting in HBsAg seroconversion as well as other conventional laboratory tests. Prospective measuring HBcrAg is required to confirm this case report.
Eccentric Muscle Actions Add Complexity to an Already Inconsistent Resistance Exercise Nomenclature
Authors: Nuzzo James L. , Nosaka Kazunori 
Published: December 2023

AbstractAn eccentric muscle action (or contraction) is defined as active muscle lengthening against resistance, which occurs when the force generated by the muscle is smaller than the resistance placed upon it. Eccentric resistance exercise, which involves multiple sessions of repeated eccentric muscle actions, improves muscle strength and other health outcomes. In response to this evidence, new exercise technologies have been developed to permit feasible completion of eccentric muscle actions outside of the laboratory. Consequently, participation in eccentric resistance exercise is projected to increase in the future, and communications about eccentric resistance exercise are likely to reach a wide audience, including students in the classroom, athletes in the weightroom, patients who receive telehealth services, and journalists who report on study findings. Previous research has documented inconsistencies in how resistance exercises are named, but the role of eccentric resistance exercises has not been considered. Here, we explain how eccentric resistance exercises add further complexity to an already inconsistent resistance exercise nomenclature. Specifically, action words in exercise names typically describe the movement that occurs in the concentric phase (e.g., “press”, “raise”, “curl”, “pull”, “row”). This naming bias likely stems from the fact that traditional resistance exercise equipment, such as free weights and weight stack machines, does not typically accommodate for greater eccentric than concentric strength and thus emphasizes the concentric over eccentric phase. This naming bias is likely to hinder communications about eccentric resistance exercise. Thus, we encourage researchers and practitioners to discuss ways in which resistance exercises can be named more clearly and consistently.
Environmental detection of eumycetoma pathogens using multiplex real-time PCR for soil DNA in Sennar State, Sudan
Authors: Hashizume Hiroki , Taga Suguru , Sakata Masayuki K. , Hussein Mahmoud , Siddig Emmanuel Edwar , Minamoto Toshifumi , Fahal Ahmed Hassan , Kaneko Satoshi 
Published: December 2023

Abstract
Background
Mycetoma is a chronic disease affecting the skin and subcutaneous tissue endemic in the tropical and subtropical regions. Several bacteria and fungi can cause mycetoma, but fungal mycetoma (eumycetoma) is challenging because the treatment requires a combination of a long-term antifungal agent and surgery. Although the transmission route has not yet been elucidated, infection from the soil is a leading hypothesis. However, there are few soil investigation studies, and the geographical distribution of mycetoma pathogens is not well documented. Here, we used multiplex real-time PCR technology to identify three fungal species from soil samples.

Methods
In total, 64 DNA samples were extracted from soil collected in seven villages in an endemic area in Sennar State, Sudan, in 2019. Primers and fluorescent probes specifically targeting the ribosomal DNA of Madurella mycetomatis, Falciformispora senegalensis, and F. tompkinsii were designed.

Results
Multiplex real-time PCR was performed and identified the major pathogen, M. mycetomatis that existed in most sites (95%). In addition, two other pathogens were identified from some sites. This is the first report on the use of this technique for identifying the eumycetoma causative microorganisms.

Conclusions
This study demonstrated that soil DNA investigation can elucidate the risk area of mycetoma-causative agents. The results will contribute to the design of prevention measures, and further large-scale studies may be effective in understanding the natural habitats of mycetoma pathogens.
Integrated rumen microbiome and serum metabolome analysis responses to feed type that contribution to meat quality in lambs
Authors: Du Shuai , Bu Zhenkun , You Sihan , Jiang Zipeng , Su Weifa , Wang Tenghao , Jia Yushan 
Published: December 2023

Abstract
Background
Lifestyle factors, such as diet, are known to be a driver on the meat quality, rumen microbiome and serum metabolites. Rumen microbiome metabolites may be important for host health, the correlation between rumen microbiome and production of rumen metabolites are reported, while the impact of rumen microbiome on the serum metabolome and fatty acid of meat are still unclear. This study was designed to explore the rumen microbiome, serum metabolome and fatty acid of meat in response to the grass diet and concentrate diet to lambs, and the relationship of which also investigated.

Methods
In the present study, 12 lambs were randomly divided into two groups: a grass diet (G) and a concentrate diet (C). Here, multiple physicochemical analyses combined with 16S rRNA gene sequences and metabolome analysis was performed to reveal the changes that in response to feed types.

Results
The concentrate diet could improve the growth performance of lambs compared to that fed with the grass diet. The microbiome composition was highly individual, compared to the concentrate group, the abundance of Rikenellaceae_RC9_gut_group, F082_unclassified, Muribaculaceae_unclassified, Ruminococcaceae_NK4A214_group, Bacteroidetes_unclassified, and Bacteroidales_UCG-001_unclassified were significantly (P < 0.05) lower in the grass group, while, the abundance of Succinivibrio, Succinivibrionaceae_UCG-002, Fibrobacter and Christensenellaceae_R-7_group were significantly (P < 0.05) higher in the grass group. Serum metabolomics analysis combined with enrichment analysis revealed that serum metabolites were influenced by feed type as well as the metabolic pathway, and significantly affected serum metabolites involved in amino acids, peptides, and analogues, bile acids, alcohols and derivatives, linoleic acids derivatives, fatty acids and conjugates. Most of the amino acids, peptides, and analogues metabolites were positively associated with the fatty acid contents. Among the bile acids, alcohols and derivatives metabolites, glycocholic was positively associated with all fatty acid contents, except C18:0, while 25-Hydroxycholesterol and lithocholic acid metabolites were negatively associated with most of the fatty acid contents.

Conclusion
Correlation analysis of the association of microbiome with metabolite features, metabolite features with fatty acid provides us with comprehensive understanding of the composition and function of microbial communities. Associations between utilization or production were widely identified among affected microbiome, metabolites and fatty acid, and these findings will contribute to the direction of future research in lamb.