bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs
Authors: Qian Rong , Xie Fei , Zhang Wei , Kong JuanJuan , Zhou Xueli , Wang Chonglong , Li Xiaojin 
Published: July 2023

Abstract
Background
Anqing six-end-white pig is a native breed in Anhui Province. The pigs have the disadvantages of a slow growth rate, low proportion of lean meat, and thick back fat, but feature the advantages of strong stress resistance and excellent meat quality. Duroc pig is an introduced pig breed with a fast growth rate and high proportion of lean meat. With the latter breed featuring superior growth characteristics but inferior meat quality traits, the underlying molecular mechanism that causes these phenotypic differences between Chinese and foreign pigs is still unclear.

Results
In this study, copy number variation (CNV) detection was performed using the re-sequencing data of Anqing Six-end-white pigs and Duroc pigs, A total of 65,701 CNVs were obtained. After merging the CNVs with overlapping genomic positions, 881 CNV regions (CNVRs) were obtained. Based on the obtained CNVR information combined with their positions on the 18 chromosomes, a whole-genome map of the pig CNVs was drawn. GO analysis of the genes in the CNVRs showed that they were primarily involved in the cellular processes of proliferation, differentiation, and adhesion, and primarily involved in the biological processes of fat metabolism, reproductive traits, and immune processes.

Conclusion
The difference analysis of the CNVs between the Chinese and foreign pig breeds showed that the CNV of the Anqing six-end-white pig genome was higher than that of the introduced pig breed Duroc. Six genes related to fat metabolism, reproductive performance, and stress resistance were found in genome-wide CNVRs (DPF3, LEPR, MAP2K6, PPARA, TRAF6, NLRP4).
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
Authors: Zhou Lili , Li Huanzheng , Xu Chenyang , Xu Xueqin , Zheng Zhaoke , Tang Shaohua 
Published: July 2023

Abstract
Background
With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent. This study involved a retrospective analysis of SNP array testing on 4512 prenatal diagnosis samples, wherein the characterization of mosaicism was explored and insights were gained into the underlying mechanisms thereof.

Results
Using SNP array, a total of 44 cases of mosaicism were identified among 4512 prenatal diagnostic cases; resulting in a detection rate of approximately 1.0%. The prevalence of mosaicism was 4.1% for chorionic villus sample, 0.4% for amniotic fluid, and 1.3% for umbilical cord blood. Of these cases, 29 were mosaic aneuploidy and 15 were mosaic segmental duplication/deletion. Three cases of mosaic trisomy 16 and three cases of mosaic trisomy 22 were diagnosed in the CVS samples, while four cases of mosaic trisomy 21 were detected in amniotic fluid and umbilical cord blood samples. The distribution pattern of mosaicism suggested trisomy rescue as the underlying mechanism. Structurally rearranged chromosomes were observed, including three cases with supernumerary marker chromosomes, three cases with dicentric chromosomes, and one case with a ring chromosome. All mosaic segmental duplication/deletion cases were the result of mitotic non-disjunction, with the exception of one case involving mosaic11q segmental duplication.

Conclusion
Improved utilization of SNP arrays enables the characterization of mosaicism and facilitates the estimation of disease mechanisms and recurrence.
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
Authors: Ahmad Olfat , Sutter Christian , Hirsch Steffen , Pfister Stefan M. , Schaaf Christian P. 
Published: July 2023

AbstractA founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing inbreeding of isolated populations. For high-risk cancer predisposition genes, such as BRCA1/2, the identification of founder variants in a certain population could help designing customized cost-effective cancer screening panels. This advantage has been best utilized in designing a customized breast cancer BRCA screening panel for the Ashkenazi Jews (AJ) population, composed of the three BRCA founder variants which account for approximately 90% of identified BRCA alterations. Indeed, the high prevalence of pathogenic BRCA1/2 variants among AJ (~ 2%) has additionally contributed to make population-based screening cost-effective in comparison to family-history-based screening. In Jordan there are multiple demographic characteristics supporting the proposal of a founder effect. A high consanguinity rate of ~ 57% in the nineties of the last century and ~ 30% more recently is a prominent factor, in addition to inbreeding which is often practiced by different sub-populations of the country.This review explains the concept of founder effect, then applies it to analyze published Jordanian BRCA variants, and concludes that nine pathogenic (P) and likely pathogenic (LP) BRCA2 variants together with one pathogenic BRCA1 variant are potential founder variants. Together they make up 43% and 55% of all identified BRCA1/2 alterations in the two largest studied cohorts of young patients and high-risk patients respectively. These variants were identified based on being recurrent and either specific to ethnic groups or being novel. In addition, the report highlights the required testing methodologies to validate these findings, and proposes a health economic evaluation model to test cost-effectiveness of a population-based customized BRCA screening panel for the Jordanian population. The aim of this report is to highlight the potential utilization of founder variants in establishing customized cancer predisposition services, in order to encourage more population-based genomic studies in Jordan and similar populations.
CC chemokines and receptors in osteoarthritis: new insights and potential targets
Authors: Zhang Yuchen , Liu Di , Vithran Djandan Tadum Arthur , Kwabena Bosomtwe Richmond , Xiao Wenfeng , Li Yusheng 
Published: July 2023

AbstractOsteoarthritis (OA) is a prevalent degenerative disease accompanied by the activation of innate and adaptive immune systems-associated inflammatory responses. Due to the local inflammation, the expression of various cytokines was altered in affected joints, including CC motif chemokine ligands (CCLs) and their receptors (CCRs). As essential members of chemokines, CCLs and CCRs played an important role in the pathogenesis and treatment of OA. The bindings between CCLs and CCRs on the chondrocyte membrane promoted chondrocyte apoptosis and the release of multiple matrix-degrading enzymes, which resulted in cartilage degradation. In addition, CCLs and CCRs had chemoattractant functions to attract various immune cells to osteoarthritic joints, further leading to the aggravation of local inflammation. Furthermore, in the nerve endings of joints, CCLs and CCRs, along with several cellular factors, contributed to pain hypersensitivity by releasing neurotransmitters in the spinal cord. Given this family’s diverse and complex functions, targeting the functional network of CCLs and CCRs is a promising strategy for the prognosis and treatment of OA in the future.
Age and gender differences in misperceptions of body shape in a Taiwanese population
Authors: Weng Hui-Ching , Chang Sheng-Mao , Hsu Jason C. , Yang Yung-Ning , Lin Chung-Ying 
Published: July 2023

Abstract
Objectives
Most studies of body size perception have been performed in adolescents, and most focus on gender differences in accurate perception of body size. This study investigated misperceptions of body sizes among males and females at different stages of adulthood in Taiwan.

Designs
In-person home interviews were used to proportionally and randomly select 2095 adult men and women to answer the East Asian Social Survey. Participants were divided into 18–39, 40–64, and 65 + age groups. The main variables analyzed were self-perceived body size and standardized BMI.

Results
Women, unlike men, were more likely to misperceive their body size as being overweight (OR = 2.92; p < .001). People with higher self-perceived social status were less likely to misperceive themselves as overweight (OR = 0.91; p = .01). People with college educations were 2.35 times more likely to overestimate their body size as being heavier than they were (p < .001) and less likely to underestimate it as being thinner than they were (OR = 0.45; p < .001). Women 18–35 and 36–64 years old were 6.96 and 4.31 times more likely (p < .001) to misperceive themselves as being overweight than women 65 or older, who were more likely to misperceive themselves as being too thin. There were no significant differences in body size misperceptions among the three age groups of adult men (p > .05). We found no different significant discrepancies between self-perceived body size and actual BMI between the older men and women (p = .16). However, younger and middle-aged men were 6.67 and 3.1 times more likely to misperceive themselves as being too thin than women in their same age groups (OR = 0.15 and OR = 0.32, respectively).

Conclusions
Age and gender affect self-perceptions of body size in Taiwan. Overall, women are more likely than men to misperceive themselves as being too big, and men are more likely than women to misperceive themselves as too thin. Older women, however, were more likely to misperceive themselves as being too thin. Clinicians and health educators should know that people’s perceptions and concerns regarding their body size vary by age and gender.
Exploring learning-oriented assessment in EAP writing classrooms: teacher and student perspectives
Authors: Ma Maggie 
Published: July 2023

AbstractDespite a growing interest in learning-oriented assessment in recent years, there is limited research on its implementation in language classrooms from both teacher and student perspectives, especially from an ecological lens. To address the research gap, this case study explored the implementation of learning-oriented assessment in three EAP writing classrooms, including both perceived success of and obstacles to implementation. Major data sources included interviews with teachers and students as well as classroom observation. The findings showed the different extents to which the teachers and students perceived and shaped/utilized the affordances of each dimension of learning-oriented assessment as well as the various ways in which their fields of affordances were aligned, due to micro-level, meso-level, and macro-level factors. Based on the findings, a model of learning-oriented assessment in EAP writing classrooms has been proposed and pedagogical implications have been discussed.
Trauma-specific mindfulness-based cognitive therapy for women with post-traumatic stress disorder and a history of domestic abuse: intervention refinement and a randomised feasibility trial (coMforT study)
Authors: Lewis Natalia V. , Gregory Alison , Feder Gene S. , Angill-Williams Aishlyn , Bates Sophie , Glynn Joel , Halliwell Gemma , Hawcroft Claire , Kessler David , Lawton Michael , Leach Rwth , Millband Sarah , Pitt Katherine , Zammit Stan , Malpass Alice 
Published: July 2023

AbstractBackgroundWomen who have experienced domestic violence and abuse (DVA) are at increased risk of developing post-traumatic stress disorder (PTSD) and complex PTSD (CPTSD). In 2014–2015, we developed a prototype trauma-specific mindfulness-based cognitive therapy curriculum (TS-MBCT) for the treatment of PTSD in a DVA population. This study aimed to refine the prototype TS-MBCT and evaluate the feasibility of conducting a randomised controlled trial (RCT) testing its effectiveness and cost-effectiveness.MethodsIntervention refinement phase was informed by evidence synthesis from a literature review, qualitative interviews with professionals and DVA survivors, and a consensus exercise with experts in trauma and mindfulness. We tested the refined TS-MBCT intervention in an individually randomised parallel group feasibility trial with pre-specified progression criteria, a traffic light system, and embedded process and health economics evaluations.ResultsThe TS-MBCT intervention consisted of eight group sessions and home practice. We screened 109 women in a DVA agency and recruited 20 (15 TS-MBCT, 5 self-referral to National Health Service (NHS) psychological treatment), with 80% follow-up at 6 months. Our TS-MBCT intervention had 73% uptake, 100% retention, and high acceptability. Participants suggested recruitment via multiple agencies, and additional safety measures. Randomisation into the NHS control arm did not work due to long waiting lists and previous negative experiences. Three self-administered PTSD/CPTSD questionnaires produced differing outcomes thus a clinician administered measure might work better. We met six out of nine feasibility progression criteria at green and three at amber targets demonstrating that it is possible to conduct a full-size RCT of the TS-MBCT intervention after making minor amendments to recruitment and randomisation procedures, the control intervention, primary outcomes measures, and intervention content. At 6 months, none of the PTSD/CPTSD outcomes ruled out a clinically important difference between trial arms indicating that it is reasonable to proceed to a full-size RCT to estimate these outcomes with greater precision.ConclusionsA future RCT of the coMforT TS-MBCT intervention should have an internal pilot, recruit from multiple DVA agencies, NHS and non-NHS settings, have an active control psychological treatment, use robust randomisation and safety procedures, and clinician-administered measures for PTSD/CPTSD.Trial registrationISRCTN6445806511/01/2019.
A review on lipid-based nanocarriers mimicking chylomicron and their potential in drug delivery and targeting infectious and cancerous diseases
Authors: Elnady Rana E. , Amin Maha M. , Zakaria Mohamed Y. 
Published: July 2023

AbstractInfectious and cancerous diseases are tedious to manage. The problem of drug resistance is often associated with anti-microbial and anti-cancer agents and is one of the most significant challenges that restrict their activity. Therefore, it is necessary to increase doses or drug combinations. However, introducing drugs in this way is often ineffective due to poor solubility, low bioavailability, reduced stability, and different drug pharmacokinetic parameters. Vesicular nanocarriers are considered promising for effective drug delivery and overcoming drug resistance. Lipid-based drug delivery systems (LBDDS) such as emulsomes (EMLs) can solve many problems associated with drug physicochemical properties. EMLs share structural similarities with liposomes and solid lipid nanoparticles (SLNs). The main components of emulsomal preparation are triglycerides (TG), phospholipids (PC), and cholesterol (Chol). These systems provide greater stability and pharmacokinetic parameters in vivo compared to liposomes and other lipid-based systems, overcoming their limitations and surpassing their shortcomings. This review offers a broad summary of emulsomal research to date and a comprehensive overview of the formulation materials and their effects on the fabrication, physical characteristics, surface modification, lymphatic targeting, and recent applications of EMLs in infectious and cancerous diseases. EMLs can offer stable and safe lipid-based systems with adequate entrapment and sustained release properties, improving bioavailability and evading multidrug resistance. Furthermore, they hold promise for future clinical applications for anti-microbial and anti-cancer drugs.

Graphical Abstract
Timing of aneurysm treatment in subarachnoid hemorrhage and grade of functional capacity at discharge: a retrospective cohort study
Authors: Loconi-Vallejos Adrian , Jorge-Dejo Catherine , Azurín-Peña Miguel , Garcia-Solorzano Franko O. 
Published: July 2023

Abstract
Background
Aneurysmal subarachnoid hemorrhage (SAH) is a vascular pathology with high morbidity and mortality that requires timely management to reduce the risk of complications. However, the ideal time for aneurysm clipping is still controversial. This study aimed to compare the degree of functional capacity at discharge of patients who underwent surgery for rupture of a cerebral aneurysm at different periods of time until surgery.

Results
132 patients who underwent surgery for SAH due to aneurysm rupture were included. The mean age was 52.5 years and 69.7% of participants were female. At admission, 96.2% were given a score of 1–3 on the World Federation of Neurological Surgeons scale and 79.6% received a score of 1–2 on the Hunt Hess scale. 8.3% of cases underwent surgery within the first 3 days of bleeding. The average time from clinical manifestation to surgical intervention was 7.1 days. At discharge 77.27% of patients presented good functional capacity. After adjusting for confounders, multivariate analysis showed a trend towards increased, albeit not statistically significant, risk in patients undergoing surgery at between 4 and 10 days (RR = 2.95 95% CI 0.80–10.87) and at > 10 days after SAH (RR = 2.65. 95% CI 0.72–9.79).

Conclusions
Despite the trend towards a higher probability of presenting poor functional capacity at discharge in patients undergoing aneurysm clipping more than 3 days after SAH, the differences were not statistically significant. There is a need for prospective randomized studies evaluating the best time to clip aneurysms, since aneurysm clipping is still a routine procedure in many countries.
Effect of foliar application of different concentrations of salicylic acid on Washington navel orange trees under water stress
Authors: Youssef Ebtessam A. , Mahmoud Tarek A. , Abo-Eid Manal A. M. 
Published: July 2023

Abstract
Background
A field experiment was performed from 2021 to 2022 on 10-year-old Washington navel orange trees (Citrus sinensis) budded on sour orange rootstock (Citrus aurantium) under sandy loam soil conditions in the region of Belbeis—El Sharkia Governorate, Egypt. This study was carried out to increase water use efficiency, maximize water utilization and determine the most effective treatment of Washington navel orange trees by using different concentrations of salicylic acid (control, 250, 500, and 750 ppm) under some levels of water stress (100, 75 and 50% of estimated crop water requirement).

Results
In this scenario, the water use efficiency increased with 750 ppm of salicylic acid under 75% of the estimated crop water requirement, which produced 2.27 and 3.09 kg of fruit for each cubic meter of irrigation water in the first and second seasons, respectively. In addition, using salicylic acid treatment with 750 ppm under 75% of the estimated crop water requirement had a high economic return through increasing water unit return, while using less water irrigation amount by 25% at the same time, which reached 9.06 and 12.38 EGP per every cubic meter of irrigation water in the first and the second seasons, respectively.

Conclusion
In summary, the data cleared that the irrigation water quantity could reduce by 25% while maintaining the production and the possibility of increasing it by using salicylic acid with the highest concentration. Thus, we recommend applying the treatment of the estimated crop water requirement with 75% combined with salicylic acid 750 ppm to Washington navel orange trees budded on sour orange rootstock to gain a high economic return.
The dosage of thiopental as pharmacological cerebral protection during non-shunt carotid endarterectomy: A retrospective study
Authors: Sookplung Pimwan , Suchartwatnachai Pathomporn , Akavipat Phuping 
Published: July 2023

Background: Thiopental has been used as a pharmacological cerebral protection strategy during carotid endarterectomy surgeries. However, the optimal dosage required to induce burst suppression on the electroencephalogram (EEG) remains unknown. This retrospective study aimed to determine the optimal dosage of thiopental required to induce burst suppression during non-shunt carotid endarterectomy. Methods: The Neurological Institute of Thailand Review Board approved the study. Data were collected from 2009 to 2019 for all non-shunt carotid endarterectomy patients who received thiopental for pharmacological cerebral protection and had intraoperative EEG monitoring. Demographic information, carotid stenosis severity, intraoperative EEG parameters, thiopental dosage, carotid clamp time, intraoperative events, and patient outcomes were abstracted. Results: The study included 57 patients. Among them, 24 patients (42%) achieved EEG burst suppression pattern with a thiopental dosage of 26.3+10.1 mg/kg/hr. There were no significant differences in perioperative events between patients who achieved burst suppression and those who did not. After surgery, 33.3% of patients who achieved burst suppression were extubated and awakened. One patient in the non-burst suppression group experienced mild neurological deficits. No deaths occurred within one month postoperative. Conclusions: The optimal dosage of thiopental required to achieve burst suppression on intraoperative EEG during non-shunt carotid endarterectomy was 26.3+10.1 mg/kg/hr.
Mifepristone use for early pregnancy loss: A qualitative study of barriers and facilitators among OB/GYNS in Massachusetts, USA
Authors: Neill Sara , Mokashi Mugdha , Goldberg Alisa , Fortin Jennifer , Janiak Elizabeth 
Published: July 2023

AbstractContextEarly pregnancy loss (EPL) affects 1 million patients in the United States (US) annually, but integration of mifepristone into EPL care may be complicated by regulatory barriers, practice‐related factors, and abortion stigma.MethodsWe conducted qualitative, semi‐structured interviews among obstetrician‐gynecologists in independent practice in Massachusetts, US on mifepristone use for EPL. We recruited participants via professional networks and purposively sampled for mifepristone use, practice type, time in practice, and geographic location within Massachusetts until we reached thematic saturation. We analyzed interviews using inductive and deductive coding under a thematic analysis framework to identify facilitators of and barriers to mifepristone use.ResultsWe interviewed 19 obstetrician‐gynecologists; 12 had used mifepristone for EPL and 7 had not. Participants were in private practice (n = 12), academic practice (n = 6), or worked at a federally qualified health center (n = 1). Seven had fellowship training, including four in complex family planning. The most common facilitators of mifepristone use for EPL were access to the expertise or protocols of local‐regional experts, leadership from a “champion,” prior experience with abortion care, and hospital capacity constraints during the COVID‐19 pandemic. The most common barriers were related to the Mifepristone Risk Evaluation and Mitigation Strategy (REMS) Program imposed by the US Food and Drug Administration (FDA). Additionally, mifepristone's affiliation with abortion was a barrier to its use in EPL for some obstetrician‐gynecologists.ConclusionThe FDA Mifepristone REMS Program presents substantial barriers to obstetrician‐gynecologists incorporating mifepristone into their EPL care.