bluuebunny/crossref_metadata_2025_split huggingface dataset:
TVAR: assessing tissue-specific functional effects of non-coding variants with deep learning
Authors: Yang Hai , Chen Rui , Wang Quan , Wei Qiang , Ji Ying , Zhong Xue , Li Bingshan 
Published: September 2022

Abstract

Motivation
Analysis of whole-genome sequencing (WGS) for genetics is still a challenge due to the lack of accurate functional annotation of non-coding variants, especially the rare ones. As eQTLs have been extensively implicated in the genetics of human diseases, we hypothesize that rare non-coding variants discovered in WGS play a regulatory role in predisposing disease risk.

Results
With thousands of tissue- and cell-type-specific epigenomic features, we propose TVAR. This multi-label learning-based deep neural network predicts the functionality of non-coding variants in the genome based on eQTLs across 49 human tissues in the GTEx project. TVAR learns the relationships between high-dimensional epigenomics and eQTLs across tissues, taking the correlation among tissues into account to understand shared and tissue-specific eQTL effects. As a result, TVAR outputs tissue-specific annotations, with an average AUROC of 0.77 across these tissues. We evaluate TVAR’s performance on four complex diseases (coronary artery disease, breast cancer, Type 2 diabetes and Schizophrenia), using TVAR’s tissue-specific annotations, and observe its superior performance in predicting functional variants for both common and rare variants, compared with five existing state-of-the-art tools. We further evaluate TVAR’s G-score, a scoring scheme across all tissues, on ClinVar, fine-mapped GWAS loci, Massive Parallel Reporter Assay (MPRA) validated variants and observe the consistently better performance of TVAR compared with other competing tools.

Availability and implementation
The TVAR source code and its scores on the ClinVar catalog, fine mapped GWAS Loci, high confidence eQTLs from GTEx dataset, and MPRA validated functional variants are available at https://github.com/haiyang1986/TVAR.

Supplementary information
Supplementary data are available at Bioinformatics online.
The Role of Digital Data on Citizens in Social Work Research: A Literature Review
Authors: Andersen Lars Bo , Christensen Michael , Danholt Peter , Lauritsen Peter 
Published: September 2022

AbstractThis article presents a scoping review of the existing research on the use of digital data in social work. This review focuses on research that includes empirical investigations of digital data on citizens in social work practices. The purpose of this review is to map the emerging field of research and contribute knowledge of the role of digital data on citizens in social work. This review includes twenty-eight articles published between 2013 and 2020, and concludes that data pervade almost every aspect of social work and that there is a variety of research on the use of data in social work. However, detailed analyses of data that describe and conceptualise the production, circulation and utilisation of data are few. In consequence, this article introduces and discusses concepts from other data-laden fields of research, and calls for further research that addresses the challenges presented by digital data used in social work.
Impairment in social interaction and hippocampal long-term potentiation at perforant pathway-dentate gyrus synapses in a prenatal valproic acid-induced rat model of autism
Authors: Mohammadkhani Reihaneh , Ghahremani Reza , Salehi Iraj , Safari Samaneh , Karimi Seyed Asaad , Zarei Mohammad 
Published: September 2022

Abstract
It is well established that prenatal valproic acid exposure in rats leads to autism-like behaviours and social deficits. Long-term potentiation changes in the brain have been proposed as a potential mechanism in the development of autistic behaviour. However, there are controversies regarding the effect of in utero valproic acid exposure on long-term potentiation. This study examined the social interaction and long-term potentiation induction in perforant pathway-dentate gyrus synapses in male offspring of a rat model of autism induced by prenatal exposure to valproic acid. On Embryonic Day 12.5, the pregnant dams received an injection of 500 mg/kg valproic acid (intraperitoneal) to produce the autism model. The sociability test was performed between Postnatal Days 37 and 40. The offsprings were urethane-anaesthetized and placed into a stereotaxic apparatus for surgery, electrode implantation and field potential recording on Postnatal Days 45–55. In the dentate gyrus region, excitatory postsynaptic potential slope and population spike amplitude were measured. Valproic acid-exposed offspring showed significantly impaired social interaction. The birth weight in valproic acid-exposed rats was significantly lower than in control rats. The ability of dentate gyrus synapses to induce long-term potentiation was hampered by valproic acid exposure. The decreasing excitatory postsynaptic potential slope and population spike amplitude of long-term potentiation provide evidence in favour of this notion. It is widely supposed that the hippocampus plays a central role in the process of learning and memory as well as social interaction and social memory. Therefore, deficiencies in hippocampal synaptic plasticity may be responsible, at least in part, for the social interaction deficits in valproic acid-exposed rats.
Age-stratified effects of coronary artery calcification on cardiovascular and non-cardiovascular mortality in Korean adults
Authors: Kang Jeonggyu , Kim Seolhye , Chang Yoosoo , Kim Yejin , Jung Hyun-Suk , Ryu Seungho 
Published: September 2022

Abstract

Aims
The role of coronary artery calcium score (CACS) in predicting cardiovascular disease (CVD) and non-CVD mortality in young adults is unclear. We investigated the association of CACS with CVD and non-CVD mortality in young and older individuals.

Methods and results
CVD-free Koreans (n = 160 821; mean age, 41.4 years; 73.2% young individuals aged &lt;45 years) who underwent cardiac tomography estimation of CACS (69.7% one-time measurement), were followed-up for a median of 5.6 years. The vital status and cause of death were ascertained from the national death records. Sub-distribution hazard ratios (SHR) and 95% confidence intervals (CIs) for cause-specific mortality were estimated using the Fine and Gray proportional hazards models. Overall, a higher CACS was strongly associated with an increased risk of CVD mortality. Among young individuals, multivariable-adjusted SHR (95% CIs) for CVD mortality comparing a CACS of 1–100, 101–300, and &gt;300 to 0 CACS were 5.67 (2.33–13.78), 22.34 (5.72–87.19), and 74.1 (18.98–239.3), respectively, and among older individuals, corresponding SHR were 1.51 (0.60–3.84), 8.57 (3.05–24.06), and 6.41 (1.98–20.74). The addition of CACS to Framingham risk score significantly but modestly improved risk prediction for CVD mortality in young individuals. Conversely, CACS was significantly associated with non-CVD mortality only in older individuals.

Conclusions
Strong associations of CACS with CVD mortality, but not non-CVD mortality, were observed in young individuals, beginning in the low CACS category. Our findings reaffirm the need for early intervention for young adults even with low CACS to reduce CVD mortality.
Primary cardiac sarcoma presenting with easy bruising: a case report
Authors: Mishra Rina , Shemmeri Ealaf , Pani Saroj , Tribble Matthew 
Published: September 2022

Abstract

Background
Primary cardiac sarcomas are rare, aggressive types of malignancies with poor prognoses and can rarely present with thrombocytopenia. Sarcomas account for 65% of primary malignant cardiac tumours. Clinical symptoms often present with constitutional symptoms such as shortness of breath, weight loss, and fatigue. In addition, the tumour’s location determines treatment options and prognosis. Multimodal imaging facilitates the detection and assessment of cardiovascular tumours. This case study presents a rare primary right heart cardiac sarcoma presenting with thrombocytopenia.

Case summary
An 80-year-old male presented to the emergency department with complaints of worsening dyspnoea, ease of bruising, and chest pain. An extensive investigation into the cause of thrombocytopenia was performed. A transthoracic echocardiogram, computed tomography scan, and cardiac magnetic resonance (CMR) image revealed a large mass affecting the right atrium and right ventricle. Myocardial biopsy showed high-grade angiosarcoma. Due to his advanced age and intraventricular septal involvement of the mass, the multidisciplinary team decided to proceed with palliative chemotherapy.

Discussion
Many cardiac tumours remain asymptomatic, and the diagnosis is made at an advanced stage of the disease. Differential diagnoses of the intramural masses include haemangiomas, lipomas, rhabdomyomas, lymphomas, and sarcomas. Multiple treatment options should be considered to address thrombocytopenia. Tumour diagnosis and identification consist of laboratory tests and multimodal imaging. Complete surgical resection with neoadjuvant and adjuvant purposes is the mainstay of cardiac sarcoma therapy. A multidisciplinary, individualized care approach should be performed.
Snare and track (SNACK) technique: a novel approach for successful placement of an intracardiac echocardiogram catheter in the left atrium: a case report
Authors: Kawsara Akram , Raybuck Bryan 
Published: September 2022

Abstract

Background
Placing an intracardiac echocardiogram (ICE) catheter in the left atrium allows for excellent visualization of the left atrial appendage to guide left atrial (LA) appendage occlusion (LAAO). Nonetheless, it requires a separate septal puncture or a unique set of skills to navigate the ICE through a previously prepared septal puncture, which can be challenging.

Case summary
This report describes a novel method to insert an ICE in the left atrium through a single septal puncture utilizing a snare technique. A 76-year-old male underwent LAAO by ICE guidance. After obtaining a standard atrial septal puncture, we were unable to advance the ICE into the left atrium. Therefore, we used a loop snare to grasp the ICE catheter-tip in the right atrium and direct it into the left atrium via the prepared septal puncture by tracking a pigtail wire that we routinely place as part of the procedure. Afterward, the left atrial appendage was successfully occluded with a Watchman device (Boston Scientific, Galway, Ireland), and the patient was discharged home without complications.

Discussion
The described technique could be a helpful tool for ICE placement to the left atrium in a controlled fashion, especially when challenging anatomy is encountered.
Nebulous without white: annotated long-read genome assembly and CRISPR/Cas9 genome engineering in Drosophila nebulosa
Authors: Sottolano Christopher J , Revaitis Nicole T , Geneva Anthony J , Yakoby Nir 
Published: September 2022

Abstract
The diversity among Drosophila species presents an opportunity to study the molecular mechanisms underlying the evolution of biological phenomena. A challenge to investigating these species is that, unlike the plethora of molecular and genetics tools available for D. melanogaster research, many other species do not have sequenced genomes; a requirement for employing these tools. Selecting transgenic flies through white (w) complementation has been commonly practiced in numerous Drosophila species. While tolerated, the disruption of w is associated with impaired vision, among other effects in D. melanogaster. The D. nebulosa fly has a unique mating behavior which requires vision, and is thus unable to successfully mate in dark conditions. Here, we hypothesized that the disruption of w will impede mating success. As a first step, using PacBio long-read sequencing, we assembled a high-quality annotated genome of D. nebulosa. Using these data, we employed CRISPR/Cas9 to successfully disrupt the w gene. As expected, D. nebulosa males null for w did not court females, unlike several other mutant strains of Drosophila species whose w gene has been disrupted. In the absence of mating, no females became homozygous null for w. We conclude that gene disruption via CRISPR/Cas9 genome engineering is a successful tool in D. nebulosa, and that the w gene is necessary for mating. Thus, an alternative selectable marker unrelated to vision is desirable.
Sexual Motives, Stress, and Depressive Symptoms Among Midlife Different-Sex and Same-Sex Couples
Authors: Chai Hye Won , Mernitz Sara E , Umberson Debra J 
Published: September 2022

AbstractBackground and ObjectivesWithin relationships, sexual motives and stress are independent determinants of psychological health, with notable gendered patterns. However, previous research largely focuses on young adults and different-sex couples. Both sexual motives and levels of stress may be uniquely important to psychological health in midlife, and in potentially different ways for same-sex and different-sex couples. This study examined how the associations between sexual motives, stress, and depressive symptoms differ for midlife men and women in same-sex and different-sex marriages.Research Design and MethodsUsing dyadic data from same-sex and different-sex midlife married couples (N = 830 individuals; 415 couples), we examined the associations of intrinsic (e.g., sex for enjoyment and pleasure) and extrinsic (e.g., sex to please one’s spouse) motives for having sex with depressive symptoms and tested whether these associations differed by levels of stress for same-sex and different-sex spouses.ResultsIntrinsic sexual motives were associated with fewer depressive symptoms only for same-sex married couples under high stress. Extrinsic sexual motives were related to greater depressive symptoms for women in low-stress conditions and men in high-stress conditions, and this did not differ for same-sex compared to different-sex marriages.Discussion and ImplicationsResults show that the interplay between sexual motives and stress varies for men and women in same-sex and different-sex marriages. These findings underscore the importance of considering both gender and sexuality in studying sexual motives in midlife and suggest sexual motives as a useful treatment focus for protecting the psychological health of midlife married couples.
Pushing the boundaries of minimally invasive repair of pectus excavatum: first experience with a 4-bar technique
Authors: Yüksel Mustafa , Ersöz Hasan 
Published: September 2022

Abstract
Several modifications to minimally invasive repair of pectus excavatum have been reported to date. Of these, the use of multiple bars was a major development. At present, there are 2 established techniques: cross-bar and parallel bar placement. We used a combination of both parallel and cross-bar techniques in a 25-year-old male patient with deep, Grand-Canyon type pectus excavatum, placing a total of 4 bars and 4 stabilizers. The patient had no complications during the 7 months of postoperative follow-up. We share this case report as the first experience using this modified technique in the literature.
Child malnutrition in Afghanistan amid a deepening humanitarian crisis
Authors: Rahmat Zainab Syyeda , Rafi Hania Mansoor , Nadeem Arsalan , Salman Yumna , Nawaz Faisal A , Essar Mohammad Yasir 
Published: September 2022

Abstract
Decades of political turmoil and stifling war, among other issues, has turned Afghanistan into the world's largest humanitarian crisis. Just 4 months after the Taliban seized control, the majority of the Afghan population face starvation, with &gt;3.3 million children unable to afford basic food resources, leading to dozens of deaths every week. Restrictions on humanitarian assistance, withholding of vital food supplies and inadequate medical care play a major role in exacerbating the rates of malnutrition in the vulnerable paediatric population. Global interference is warranted to avoid unfathomable consequences in mitigating this public health catastrophe.
Integrating traditional medicine into the Ghanaian health system: perceptions and experiences of traditional medicine practitioners in the Ashanti region
Authors: Ampomah Irene G , Malau-Aduli Bunmi S , Seidu Abdul-Aziz , Malau-Aduli Aduli E O , Emeto Theophilus I 
Published: September 2022

Abstract

Background
Traditional medicine (TM) plays a vital role in the Ghanaian health system by serving as an alternative healthcare delivery system for the majority of people. However, the quality of practice and level of TM practitioners’ involvement in the integration of TM into the health system have not been fully investigated.

Methods
This study employed a phenomenological qualitative study design to explore the perceptions, experiences and recommendations of TM practitioners in the Ashanti region regarding TM integration. Data were collected through individual interviews with 17 participants.

Results
Participants had knowledge about TM integration. They cited effective alternative healthcare delivery and improved patient outcomes as the key benefits of TM integration. However, they reported a shortage of approved TM products, poor visibility of TM integration and poor relational coordination of care as factors hampering the integration. Participants recommended improved interprofessional relationships, provision of financial support and improved publicity of TM as possible strategies to enhance TM integration in Ghana.

Conclusions
The findings of the study clearly demonstrate that the Ghanaian health system is currently operating a consumer-led, tolerant health system with a parallel (between orthodox and TM practitioners) healthcare delivery model. Successful implementation of an effective TM integration would require improved integrative collaborative coordination of care between orthodox and TM practitioners in Ghana.
Israeli COVID lockdowns mildly reduced overall use of preventive health services, but exacerbated some disparities
Authors: Rose Adam J , Ein mor Eliana , Krieger Michal , Ben-yehuda Arie , Cohen Arnon D , Matz Eran , Bar-Ratson Edna , Bareket Ronen , Paltiel Ora , Calderon-Margalit Ronit 
Published: September 2022

Abstract

Background
During 2020, Israel experienced two COVID-19-related lockdowns that impacted the provision of primary and secondary preventive care.

Methods
We examined the month-by-month performance of selected preventive care services using data from Israel’s national Quality Indicators in Community Healthcare program. Process of care measures included hemoglobin A1c (HbA1c) testing, cholesterol testing, colon cancer screening and mammography. Intermediate outcome measures included low-density lipoprotein control and HbA1c control. Measures were stratified by sex and by area-level socioeconomic position (SEP). Diabetes and mammography are presented in this abstract due to space limitations.

Results
Annual HbA1c testing among persons with diabetes decreased from 90.9% in 2019 to 88.0% in 2020. Performance of HbA1c tests during lockdown months was as low as half the usual amount. There were compensatory increases in testing during post-lockdown months that did not quite make up for the missed tests. In 2019, 9.0% of Israelis with diabetes had poor glycemic control (HbA1c ≥ 9.0); in 2020, it was 8.8%. In total, 4.5% fewer mammograms were performed in 2020 compared with 2019. Women in the lowest SEP level performed 10.4% fewer mammograms in 2020 than in 2019, while women in the highest SEP level performed 3.1% more mammograms.

Conclusions
Prolonged COVID lockdowns in 2020 were associated with marked decreases in the performance of preventive health services during those months. Compensatory spikes following the end of lockdowns partly, but did not completely, make up for the missed care. COVID lockdowns may have exacerbated socioeconomic disparities in some preventive health services.
Assessment of current practice for β-lactam therapeutic drug monitoring in French ICUs in 2021: a nationwide cross-sectional survey
Authors: Tritscher Perrine , Delannoy Matthieu , Agrinier Nelly , Charmillon Alexandre , Degand Nicolas , Dellamonica Jean , Roger Claire , Leone Marc , Scala-Bertola Julien , Novy Emmanuel 
Published: September 2022

Abstract

Background
Current guidelines and literature support the use of therapeutic drug monitoring (TDM) to optimize β-lactam treatment in adult ICU patients.

Objectives
To describe the current practice of β-lactam monitoring in French ICUs.

Methods
A nationwide cross-sectional survey was conducted from February 2021 to July 2021 utilizing an online questionnaire that was sent as an email link to ICU specialists (one questionnaire per ICU).

Results
Overall, 119 of 221 (53.8%) French ICUs participated. Eighty-seven (75%) respondents reported having access to β-lactam TDM, including 52 (59.8%) with on-site access. β-Lactam concentrations were available in 24–48 h and after 48 h for 36 (41.4%) and 26 (29.9%) respondents, respectively. Most respondents (n = 61; 70.1%) reported not knowing whether the β-lactam concentrations in the TDM results were expressed as unbound fractions or total concentrations. The 100% unbound fraction of the β-lactam above the MIC was the most frequent pharmacokinetic and pharmacodynamic target used (n = 62; 73.0%).

Conclusions
Despite the publication of international guidelines, β-lactam TDM is not optimally used in French ICUs. The two major barriers are β-lactam TDM interpretation and the required time for results.
Population pharmacokinetic/pharmacodynamic study suggests continuous infusion of ceftaroline daily dose in ventilated critical care patients with early-onset pneumonia and augmented renal clearance
Authors: Chauzy Alexia , Gregoire Nicolas , Ferrandière Martine , Lasocki Sigismond , Ashenoune Karim , Seguin Philippe , Boisson Matthieu , Couet William , Marchand Sandrine , Mimoz Olivier , Dahyot-Fizelier Claire 
Published: September 2022

AbstractObjectivesCeftaroline could be suitable to treat early-onset ventilator-associated pneumonia (VAP) because of its antibacterial spectrum. However, augmented renal clearance (ARC) is frequent in ICU patients and may affect ceftaroline pharmacokinetics and efficacy. The objective of the study was to explore the impact of ARC on ceftaroline pharmacokinetics and evaluate whether the currently recommended dosing regimen (600 mg every 12 h) is appropriate to treat VAP in ICU patients.MethodsA population pharmacokinetic model was developed using pharmacokinetic data from 18 patients with measured creatinine clearance (CLCR) ranging between 83 and 309 mL/min. Monte Carlo simulations were conducted to determine the PTA and the cumulative fraction of response (CFR) against Streptococcus pneumoniae and MRSA for five dosing regimens. Study registered at ClinicalTrials.gov (NCT03025841).ResultsCeftaroline clearance increased non-linearly with CLCR, with lower concentrations and lower probability of reaching pharmacokinetic/pharmacodynamic targets when CLCR increases. For the currently recommended dosing regimen, the probability of having unbound ceftaroline concentrations above the MIC over the entire dose range is greater than 90% for MICs below 0.125 mg/L. Considering the distribution of MICs, this regimen would not be effective against MRSA infections (CFR between 21% and 67% depending on CLCR), but would be effective against S. pneumoniae infections (CFR &gt;86%).ConclusionsThe recommended dosing regimen of ceftaroline seems sufficient for covering S. pneumoniae in ICU patients with ARC, but not for MRSA. Among the dosing regimens tested it appears that a constant infusion (50 mg/h) after a loading dose of 600 mg could be more appropriate for MRSA infections.