bluuebunny/crossref_metadata_2025 huggingface dataset:
Inference for Kumaraswamy‐G family of distributions under unified progressive hybrid censoring with partially observed competing risks data
Authors: Dutta Subhankar , Ng Hon Keung Tony , Kayal Suchandan
Published: July 2024

In this study, statistical inference for competing risks model with latent failure times following the Kumaraswamy‐G (Kw‐G) family of distributions under a unified progressive hybrid censoring (UPHC) scheme is developed. Maximum likelihood estimates (MLEs) of the unknown model parameters are obtained, and their existence and uniqueness properties are discussed. Using the asymptotic properties of MLEs, the approximate confidence intervals for the model parameters are constructed. Further, Bayes estimates with associated highest posterior density credible intervals for the model parameters are developed under squared error loss function with informative and noninformative priors. These estimates are obtained under both restricted and nonrestricted parameter spaces. Moreover, frequentist and Bayesian approaches are developed to test the equality of shape parameters of the two competing failure causes. The comparison of censoring schemes based on different criteria is also discussed. Monte Carlo simulation studies are used to evaluate the performance of the proposed statistical inference procedures. An electrical appliances data set is analyzed to illustrate the applicability of the proposed methodologies.
Phenylalanine ammonia‐lyases and 4‐coumaric acid coenzyme A ligases in Chara braunii, Marchantia polymorpha, and Physcomitrium patens as extant model organisms for plant terrestrialization
Authors: Schwarze Christoph Michael , Petersen Maike
Published: July 2024

The conquest of land posed severe problems to plants which they had to cope with by adapting biosynthetic capacities. Adaptations to respond to UV irradiation, water loss, pathogen and herbivore defense, and the earth's pull were essential. Chemical compounds alleviating these problems can be synthesized by the phenylpropanoid pathway, the core of which are three enzymes: phenylalanine ammonia‐lyase (PAL), cinnamic acid 4‐hydroxylase, and 4‐coumaric acid coenzyme A‐ligase (4CL). The genomes of model organisms, Chara braunii as aquatic alga and the two bryophytes Physcomitrium patens and Marchantia polymorpha, were searched for sequences encoding PAL and 4CL and selected sequences heterologously expressed in Escherichia coli for biochemical characterization. Several possible isoforms were identified for both enzymes in Marchantia polymorpha and Physcomitrium patens, while only one or two isoforms could be retrieved for Chara braunii. Active forms of both enzymes were found in all three organisms, although the catalytic efficiencies varied in a wide range. l‐Phenylalanine was accepted as best substrate by all PAL‐like enzymes, despite annotations in some cases suggesting different activities. The substrate spectrum of 4CLs was more diverse, but caffeic and/or 4‐coumaric acids generally were the best‐accepted substrates. Our investigations show that PAL and 4CL, important enzymes for the formation of phenolic compounds, are present and active in extant charophytes and bryophytes as model organisms for the conquest of land.
A mega–electron volt emission line in the spectrum of a gamma-ray burst
Authors: Ravasio Maria Edvige , Salafia Om Sharan , Oganesyan Gor , Mei Alessio , Ghirlanda Giancarlo , Ascenzi Stefano , Banerjee Biswajit , Macera Samanta , Branchesi Marica , Jonker Peter G. , Levan Andrew J. , Malesani Daniele B. , Mulrey Katharine B. , Giuliani Andrea , Celotti Annalisa , Ghisellini Gabriele
Published: July 2024

A long gamma–ray burst (GRB) is observed when the collapse of a massive star produces an ultrarelativistic outflow pointed toward Earth. Gamma-ray spectra of long GRBs are smooth, typically modeled by joint power-law segments describing a continuum, with no detected spectral lines. We report a significant (>6σ) narrow emission feature at ~10 mega–electron volts (MeV) in the spectrum of the bright GRB 221009A. Over 80 seconds, it evolves in energy (~12 to ~6 MeV) and in luminosity (~1.1 to <0.43 × 1050erg second−1) but has a constant width of ~1 MeV. We interpret this feature as a blueshifted spectral line produced by the annihilation of electron-positron pairs, potentially in the same location responsible for emitting the brightest GRB pulses.
Fault size–dependent fracture energy explains multiscale seismicity and cascading earthquakes
Authors: Gabriel Alice-Agnes , Garagash Dmitry I. , Palgunadi Kadek H. , Mai P. Martin
Published: July 2024

Earthquakes vary in size over many orders of magnitude, often rupturing in complex multifault and multievent sequences. Despite the large number of observed earthquakes, the scaling of the earthquake energy budget remains enigmatic. We propose that fundamentally different fracture processes govern small and large earthquakes. We combined seismological observations with physics-based earthquake models, finding that both dynamic weakening and restrengthening effects are non-negligible in the energy budget of small earthquakes. We established a linear scaling relationship between fracture energy and fault size and a break in scaling with slip. We applied this scaling using supercomputing and unveiled large dynamic rupture earthquake cascades involving >700 multiscale fractures within a fault damage zone. We provide a simple explanation for seismicity across all scales with implications for comprehending earthquake genesis and multifault rupture cascades.
Neurons for infant social behaviors in the mouse zona incerta
Authors: Li Yuexuan , Liu Zhong-Wu , Santana Gustavo M. , Capaz Ana Marta , Doumazane Etienne , Gao Xiao-Bing , Renier Nicolas , Dietrich Marcelo O.
Published: July 2024

Understanding the neural basis of infant social behaviors is crucial for elucidating the mechanisms of early social and emotional development. In this work, we report a specific population of somatostatin-expressing neurons in the zona incerta (ZI
SST
) of preweaning mice that responds dynamically to social interactions, particularly those with their mother. Bidirectional neural activity manipulations in pups revealed that widespread connectivity of preweaning ZI
SST
neurons to sensory, emotional, and cognitive brain centers mediates two key adaptive functions associated with maternal presence: the reduction of behavior distress and the facilitation of learning. These findings reveal a population of neurons in the infant mouse brain that coordinate the positive effects of the relationship with the mother on an infant’s behavior and physiology.
Operating semiconductor quantum processors with hopping spins
Authors: Wang Chien-An , John Valentin , Tidjani Hanifa , Yu Cécile X. , Ivlev Alexander S. , Déprez Corentin , van Riggelen-Doelman Floor , Woods Benjamin D. , Hendrickx Nico W. , Lawrie William I. L. , Stehouwer Lucas E. A. , Oosterhout Stefan D. , Sammak Amir , Friesen Mark , Scappucci Giordano , de Snoo Sander L. , Rimbach-Russ Maximilian , Borsoi Francesco , Veldhorst Menno
Published: July 2024

Qubits that can be efficiently controlled are essential for the development of scalable quantum hardware. Although resonant control is used to execute high-fidelity quantum gates, the scalability is challenged by the integration of high-frequency oscillating signals, qubit cross-talk, and heating. Here, we show that by engineering the hopping of spins between quantum dots with a site-dependent spin quantization axis, quantum control can be established with discrete signals. We demonstrate hopping-based quantum logic and obtain single-qubit gate fidelities of 99.97%, coherent shuttling fidelities of 99.992% per hop, and a two-qubit gate fidelity of 99.3%, corresponding to error rates that have been predicted to allow for quantum error correction. We also show that hopping spins constitute a tuning method by statistically mapping the coherence of a 10–quantum dot system. Our results show that dense quantum dot arrays with sparse occupation could be developed for efficient and high-connectivity qubit registers.
Barcoding distinct neurons
Authors: Kawaoka Jane , Lomvardas Stavros
Published: July 2024

The genomic landscape of a cell surface protein reveals how neuron identity is displayed
Effect of direct-acting antivirals on the titers of human pegivirus 1 during treatment of chronic hepatitis C patients
Authors: Fahnøe Ulrik , Madsen Lone Wulff , Christensen Peer Brehm , Sølund Christina Søhoel , Mollerup Sarah , Pinholt Mette , Weis Nina , Øvrehus Anne , Bukh Jens
Published: July 2024

Coinfections with human pegivirus 1 (HPgV-1) are common in chronic hepatitis C virus (HCV) patients. However, little is known about whether HPgV-1 is affected by direct-acting antivirals during HCV treatment. Metagenomic analysis and reverse transcriptase-quantitative PCR (RT-qPCR) were performed on RNA from the plasma of 88 selected chronic HCV patients undergoing medical treatment. Twenty (23%) of these HCV patients had HPgV-1 coinfections and were followed by RT-qPCR during treatment and follow-up to investigate HPgV-1 RNA titers. Recovered sequences could be assembled to complete HPgV-1 genomes, and most formed a genotype 2 subclade. All HPgV-1 viral genomic regions were under negative purifying selection. Glecaprevir/pibrentasvir treatment in five patients did not consistently lower the genome titers of HPgV-1. In contrast, a one log
10
drop of HPgV-1 titers at week 2 was observed in 10 patients during treatment with sofosbuvir-containing regimens, sustained to the end of treatment (EOT) and in two cases decreasing to below the detection limit of the assay. For the five patients treated with ledipasvir/sofosbuvir with the inclusion of pegylated interferon, titers decreased to below the detection limit at week 2 and remained undetectable to EOT. Subsequently, the HPgV-1 titer rebounded to pretreatment levels for all patients. In conclusion, we found that HCV treatment regimens that included the polymerase inhibitor sofosbuvir resulted in decreases in HPgV-1 titers, and the addition of pegylated interferon increased the effect on patients with coinfections. This points to the high specificity of protease and NS5A inhibitors toward HCV and the more broad-spectrum activity of sofosbuvir and especially pegylated interferon.

IMPORTANCE

Human pegivirus 1 coinfections are common in hepatitis C virus (HCV) patients, persisting for years. However, little is known about how pegivirus coinfections are affected by treatment with pangenotypic direct-acting antivirals (DAAs) against HCV. We identified human pegivirus by metagenomic analysis of chronic HCV patients undergoing protease, NS5A, and polymerase inhibitor treatment, in some patients with the addition of pegylated interferon, and followed viral kinetics of both viruses to investigate treatment effects. Only during HCV DAA treatment regimens that included the more broad-spectrum drug sofosbuvir could we detect a consistent decline in pegivirus titers that, however, rebounded to pretreatment levels after treatment cessation. The addition of pegylated interferon gave the highest effect with pegivirus titers decreasing to below the assay detection limit, but without clearance. These results reveal the limited effect of frontline HCV drugs on the closest related human virus, but sofosbuvir appeared to have the potential to be repurposed for other viral diseases.
Safety of high-dose amikacin in the first week of all-oral rifampicin-resistant tuberculosis treatment for the prevention of acquired resistance (STAKE): protocol for a single-arm clinical trial
Authors: Snobre Jihad , Gasana Joel , Ngabonziza Jean Claude Semuto , Cuella-Martin Isabel , Rigouts Leen , Jacobs Bart Karl , de Viron Emeline , Herssens Natacha , Ntihumby Jean Baptiste , Klibazayre Annualithe , Ndayishimiye Clement , Van Deun Armand , Affolabi Dissou , Merle Corinne S , Muvunyi Claude , Sturkenboom Marieke G G , Migambi Patrick , de Jong Bouke C , Mucyo Yves , Decroo Tom
Published: July 2024

Introduction

An effective rifampicin-resistant tuberculosis (RR-TB) treatment regimen should include prevention of resistance amplification. While bedaquiline (BDQ) has been recommended in all-oral RR-TB treatment regimen since 2019, resistance is rising at alarming rates. This may be due to BDQ’s delayed bactericidal effect, which increases the risk of selecting for resistance to fluoroquinolones and/or BDQ in the first week of treatment when the bacterial load is highest. We aim to strengthen the first week of treatment with the injectable drug amikacin (AMK). To limit the ototoxicity risk while maximising the bactericidal effect, we will evaluate the safety of adding a 30 mg/kg AMK injection on the first and fourth day of treatment.

Methods and analysis

We will conduct a single-arm clinical trial on 20 RR-TB patients nested within an operational study called ShoRRT (All oral Shorter Treatment Regimen for Drug resistant Tuberculosis). In addition to all-oral RR-TB treatment, patients will receive two doses of AMK. The primary safety endpoint is any grade 3–4 adverse event during the first 2 weeks of treatment related to the use of AMK. With a sample size of 20 patients, we will have at least 80% statistical power to support the alternative hypothesis, indicating that less than 14% of patients treated with AMK experience a grade 3–4 adverse event related to its use. Safety data obtained from this study will inform a larger multicountry study on using two high doses of AMK to prevent acquired resistance.

Ethics and dissemination

Approval was obtained from the ethics committee of Rwanda, Rwanda Food and Drug Authority, Universitair Ziekenhuis, the Institute of Tropical Medicine ethics review board. All participants will provide informed consent. Study results will be disseminated through peer-reviewed journals and conferences.

Trial registration number

NCT05555303.
Cost-effectiveness of hospital-based treatment compared with community treatment centres: an analysis of Korea National Health Insurance claims data
Authors: Lee Jeongeun , Lee Donghyun , Kwon OhTak
Published: July 2024

Objectives

We compared the cost-effectiveness of hospital-based treatment and that of community treatment centres (CTCs).

Design

We performed statistical analysis to compare the expenses incurred by COVID-19 patients who received hospital care with those incurred by COVID-19 patients who went to CTCs.

Setting and participants

A study was conducted on 411 530 COVID-19 inpatients and 243 329 CTC patients from January 2020 to December 2021.

Main outcome measures

We calculated the probability of severe disease, hospitalisation period and medical expenses for inpatients and CTC patients. Subsequently, we analysed the cost-effectiveness of CTC compared with hospitalisation.

Results

Comparing medical expenses, CTC patients incurred 2 220 000 KRW on average, which is less than the expenses incurred by hospitalised COVID-19 patients.

Conclusions

The study suggests that using a CTC may be more cost-effective than a hospital service alone.
Development and validation of the Global Adolescent and Child Physical Activity Questionnaire (GAC-PAQ) in 14 countries: study protocol
Authors: Larouche Richard , Rostami Haji Abadi Mahdi , Aubert Salomé , Bhawra Jasmin , Brazo-Sayavera Javier , Carson Valerie , Colley Rachel C , Nyström Christine Delisle , Esliger Dale W , Harper-Brown Ryan , Gonzalez Cifuentes Silvia Alejandra , Jáuregui Alejandra , Katewongsa Piyawat , Khadilkar Anuradha , Kira Geoff , Kuzik Nicholas , Liu Yang , Lof Marie , Loney Tom , Manyanga Taru , Mwase-Vuma Tawonga W , Oyeyemi Adewale L , Reilly John J , Richards Justin , Roberts Karen , Sarmiento Olga Lucia , Silva Diego Augusto Santos , Smith Melody , Subedi Narayan , Vanderloo Leigh M , Widyastari Dyah Anantalia , Wilson Oliver W A , Wong S H , Tremblay Mark S
Published: July 2024

Introduction

Global surveillance of physical activity (PA) of children and adolescents with questionnaires is limited by the use of instruments developed in high-income countries (HICs) lacking sociocultural adaptation, especially in low- and middle-income countries (LMICs); under-representation of some PA domains; and omission of active play, an important source of PA. Addressing these limitations would help improve international comparisons, and facilitate the cross-fertilisation of ideas to promote PA. We aim to develop and assess the reliability and validity of the app-based Global Adolescent and Child Physical Activity Questionnaire (GAC-PAQ) among 8–17 years old in 14 LMICs and HICs representing all continents; and generate the ‘first available data’ on active play in most participating countries.

Methods and analysis

Our study involves eight stages: (1) systematic review of psychometric properties of existing PA questionnaires for children and adolescents; (2) development of the GAC-PAQ (first version); (3) content validity assessment with global experts; (4) cognitive interviews with children/adolescents and parents in all 14 countries; (5) development of a revised GAC-PAQ; (6) development and adaptation of the questionnaire app (application); (7) pilot-test of the app-based GAC-PAQ; and, (8) main study with a stratified, sex-balanced and urban/rural-balanced sample of 500 children/adolescents and one of their parents/guardians per country. Participants will complete the GAC-PAQ twice to assess 1-week test–retest reliability and wear an ActiGraph wGT3X-BT accelerometer for 9 days to test concurrent validity. To assess convergent validity, subsamples (50 adolescents/country) will simultaneously complete the PA module from existing international surveys.

Ethics and dissemination

Approvals from research ethics boards and relevant organisations will be obtained in all participating countries. We anticipate that the GAC-PAQ will facilitate global surveillance of PA in children/adolescents. Our project includes a robust knowledge translation strategy sensitive to social determinants of health to inform inclusive surveillance and PA interventions globally.
Determinants of women’s preferences for surgical versus conservative management for pelvic organ prolapse: a survey-based study from Italy
Authors: Ferrari Amerigo , Bellè Nicola , Giannini Andrea , Simoncini Tommaso , Vainieri Milena
Published: July 2024

Background and objective

Pelvic organ prolapse (POP) affects 40% of women, with a 12%–19% lifetime surgical risk. Italy showed high practice variation in POP surgery, possibly impacting equity of access to healthcare services, a central goal of Beveridge-like health systems. According to the literature, unwarranted variation, influenced by physician attitudes or resource allocation, must be reduced. We aimed to identify determinants influencing women’s choice when asked whether they prefer surgical or conservative POP management.

Design, setting and population

In this nationwide prospective study, we distributed a Qualtrics questionnaire via social media to any Italian women over 18 years old who voluntarily decided to participate in the survey.

Intervention

A grade 3 POP scenario was presented. Women were asked how likely they would have surgery. Each woman randomly received only 1 question out of 11: 1 question was the reference question (‘How likely would you have surgery?’) while 10 questions contained a potential determinant influencing woman’s choice (‘How likely would you have surgery if…?’).

Outcome

The outcome was the chance of choosing surgery expressed as a percentage. We analysed the effect of each factor on the outcome by using adjusted beta regression models.

Results

Respondents (n=222) opted for surgery with a median probability of 61.5%. Factors significantly increasing the chance of choosing surgery were advice from physicians, the presence of a trusted physician during hospitalisation, surgical approach with low complication rates, uterine-sparing surgery, the absence of postoperative abdominal scars and nearby hospital.

Conclusions

Our findings provide health managers and policy-makers with new evidence to better understand women’s decision-making and partly capture the determinants of unwarranted variation. These inputs may also be used as attributes for a future discrete choice experiment.
Assessment of vitamin D-related knowledge, attitudes and practices among Sultan Qaboos University students in Oman: a cross-sectional study
Authors: Al Hadhrami Rahma Said , Al Kaabi Rehab , Al Shuaibi Hajer Juma , Al Abdulsalam Rawan Salim
Published: July 2024

Background

Vitamin D deficiency, a circulating level of 25-hydroxyvitamin D <30 nmol/L, has become an emerging public health issue in recent years. Despite being a sun-rich country, vitamin D deficiency is widespread in Oman (87.5%).

Aim

This study aimed to evaluate knowledge, attitudes and practices regarding vitamin D among university students in Oman to assess the need for additional awareness campaigns.

Methods and sitting

This descriptive, cross-sectional study was conducted from September to December 2022 and involved 399 students enrolled in various degree programmes at the Sultan Qaboos University (SQU) in Muscat, Oman, using self-administered, 38-item vitamin D-related KAP (D-KAP-38) questionnaire to collect information regarding the participants’ vitamin D-related general knowledge, nutritional knowledge, attitudes and practices.

Results

Of the 399 college students, 384 (96.2%) were Omani nationals, 283 (70.9%) were women and 255 (64.1%) were between the ages of 20 and 26 years. Overall, the participants demonstrated moderate general knowledge (mean D-KAP-38 score: 77.3), poor nutritional knowledge (mean D-KAP-38 score: 45.1), moderate attitudes (mean D-KAP-38 score: 64.4) and average practices (mean D-KAP-38 score: 60.0). In general, female students demonstrated greater general knowledge (p=0.004) and more positive attitudes (p=0.007) compared with males; however, males more frequently reported better practices (p<0.001). In addition, participants who lived off-campus reported better practices compared with those living on-campus (p<0.001).

Conclusions

University students in Oman demonstrated moderate vitamin D-related general knowledge, attitudes and practices, while nutritional knowledge was poor.
Oral health-related knowledge, attitude and practices among nurses: a hospital-based questionnaire survey from a tertiary healthcare setting in Faridabad, India
Authors: Sood Shilpa Khullar , Jain Megha , Raj Manu , Sharma Sakshi
Published: July 2024

Background

Nurses play an integral part in the comprehensive delivery of healthcare services and contribute significantly to the success of public health initiatives. The knowledge, attitude and practices of nurses in the domain of oral health influence their own oral hygiene as well as that of the community. Their impact on overall oral health of the community is due to the fact that they provide health education as the primary contact of patients and their family members. The objective of this study was to evaluate the oral health knowledge, attitude and practice among nurses of a tertiary healthcare facility.

Methodology

We conducted a cross-sectional questionnaire-based study among nurses working at a tertiary healthcare setting in Faridabad, India, to assess their oral health-related knowledge, attitude and practice.

Result

We recruited a total of 300 nurses from the study institution. Among participants, 235 (78.4 %) were females. In the study population, 220 (73.4%) were nursing diploma holders, 55 (18.6%) had a bachelor’s degree, 20 (6.6%) had a post-graduate nursing diploma and 5 (1.5%) completed their master’s degree. Overall oral health-related knowledge was found to be good in 270 (90%) of participants. Overall oral health-related attitude was satisfactory in 270 (90%) participants. Among participants, 225 (75%) brushed their teeth using fluoridated toothpaste. In addition, 247 (82.6%) participants reported brushing in circular direction, 256 (85.6%) reported spending 2 min to clean their teeth and 285 (95%) reported cleaning their tongue daily.

Conclusion

Nurses demonstrated good knowledge, good attitude and a positive outlook related to oral health. They contributed significantly towards maintenance of healthy practices regarding oral health and hygiene in the community. This was primarily by taking up an active role in motivating family and friends to have regular dental check-ups.
Frailty is associated with 30-day mortality: a multicentre study of Swedish emergency departments
Authors: Munir Ehrlington Samia , Hörlin Erika , Toll John Rani , Wretborn Jens , Wilhelms Daniel
Published: July 2024

Background

Older patients living with frailty have an increased risk for adverse events. The Clinical Frailty Scale (CFS) is a 9-point frailty assessment instrument that has shown promise to identify frail emergency department (ED) patients at increased risk of adverse outcomes. The aim of this study was to investigate the association between CFS scores and 30-day mortality in an ED setting when assessments are made by regular ED staff.

Method

This was a prospective multicentre observational study carried out between May and November 2021 at three EDs in Sweden, where frailty via CFS is routinely assessed by ED staff. All patients ≥65 years of age were eligible for inclusion. Mortality at 7, 30 and 90 days, admission rate, ED and hospital length of stay (LOS) were compared between patients living with frailty (CFS≥5) and robust patients. Logistic regression was used to adjust for confounders.

Results

A total of 1840 ED visits of patients aged ≥65 years with CFS assessments done during the study period were analysed, of which 606 (32.9%) were patients living with frailty. Mortality after the index visit was higher in patients living with frailty at 7 days (2.6% vs 0.2%), 30 days (7.9% vs 0.9%) and 90 days (15.5% vs 2.4%). Adjusted ORs for mortality for those with frailty compared with more robust patients were 9.9 (95% CI 2.1 to 46.5) for 7-day, 6.0 (95% CI 3.0 to 12.2) for 30-day and 5.7 (95% CI 3.6 to 9.1) 90-day mortality. Patients living with frailty had higher admission rates, 58% versus 36%, a difference of 22% (95% CI 17% to 26%), longer ED LOS, 5 hours:08 min versus 4 hours:36 min, a difference of 31 min (95% CI 14 to 50), and longer in-hospital LOS, 4.8 days versus 2.7 days, a difference of 2.2 days (95% CI 1.2 to 3.0).

Conclusion

Patients living with frailty, had significantly higher mortality and admission rates as well as longer ED and in-hospital LOS compared with robust patients. The results confirm the capability of the CFS to risk stratify short-term mortality in older ED patients.

Trial registration number

NCT04877028.
Developmental dysplasia of the hip caused by homozygous
TRIM33
pathogenic variant affecting downstream BMP pathway
Authors: Gombosh Maya , Proskorovski-Ohayon Regina , Yogev Yuval , Eskin-Schwartz Marina , Hadar Noam , Aharoni Sarit , Dolgin Vadim , Cohen Eugen , Birk Ohad S
Published: July 2024

Background

Developmental dysplasia of the hip (DDH), formerly termed congenital dislocation of the hip, is the most common congenital disease of the musculoskeletal system in newborns. While familial predilection to DDH has been well documented, the molecular genetics/pathways of this common disorder are poorly understood.

Methods

Linkage analysis and whole exome sequencing; real-time PCR studies of skin fibroblasts.

Results

Consanguineous Bedouin kindred presented with DDH with apparent autosomal recessive heredity. Linkage analysis and whole exome sequencing delineated a single 3.2 Mbp disease-associated chromosome 1 locus (maximal multipoint Logarithm of the Odds score 2.3), containing a single homozygous variant with a relevant expression pattern: addition of threonine in TRIM33 (NM_015906.4); c.1648_1650dup.
TRIM33
encodes a protein that acts both in the TGF-β and the BMP pathways; however, it has been mostly studied regarding its function in the TGF-β pathway. Since BMPs are known to act in bone formation, we focused on the BMP pathway, in which TRIM33 functions as a transcription factor, both an activator and repressor. Skin fibroblasts of two affected girls and a heterozygous
TRIM33
variant carrier were assayed through reverse-transcription PCR for expression of genes known to be downstream of TRIM33 in the BMP pathway: fibroblasts of affected individuals showed significantly reduced expression of
DLX5
, significantly increased expression of
BGLAP
, increased expression of
ALPL
and no change in expression of
RUNX2
or of
TRIM33
itself.

Conclusions

DDH can be caused by a biallelic variant in
TRIM33
, affecting the BMP pathway.
Towards an understanding of the biopsychosocial determinants of CVD in SLE: a scoping review
Authors: Shantz Emily , Elliott Susan J , Sperling Christine , Buhler Katherine , Costenbader Karen H , Choi May Y
Published: July 2024

Objective

Systemic lupus erythematosus (SLE) is a chronic autoimmune condition with significant physical, mental, psychosocial and economic impacts. A main driver of SLE morbidity and mortality is cardiovascular disease (CVD). Both SLE and CVD exhibit disparities related to gender, race and other social dimensions linked with biological outcomes and health trajectories. However, the biospsychosocial dimensions of CVD in SLE populations remain poorly understood. The objective of this study was to systematically investigate the existing literature around known social factors influencing the development of CVD in SLE.

Methods

A scoping review protocol was developed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping reviews guidelines. The search strategy encompassed three main concepts: SLE, CVD and social factors. Four databases were searched (PubMed, SCOPUS, PsychINFO and CINAHL). 682 studies were identified for screening. Articles were screened in two phases (title/abstract and full text) to determine whether they fulfilled the selection criteria.

Results

Nine studies were included after screening. All were conducted in the USA between 2009 and 2017. Six studies (67%) were cross-sectional and three (33%) were longitudinal. Most employed SLE cohorts (n=7, 78%) and two drew from healthcare databases (n=2; 22%). We identified five main themes encompassing social factors: socioeconomic status and education (n=5; 56%), race and/or ethnicity (n=7; 78%), mental health (n=2; 22%), gender (n=3; 33%) and healthcare quality and/or insurance (n=2; 22%). Overall, low income, fewer years of education, black race and/or ethnicity, depression, male gender, lack of insurance and healthcare fragmentation were all associated with CVD risk factors and outcomes in SLE.

Conclusions

While several social factors contribute to CVD in SLE populations, considerable gaps remain as many social determinants remain un(der)explored. There is rich opportunity to integrate social theory, advance conceptualisations of race and/or ethnicity and gender, expand investigations of mental health and explore novel geographical contexts. In healthcare policy and practice, identified social factors should be considered for SLE populations during decision-making and treatment, and education resources should be targeted for these groups.
Curcumin attenuates lupus nephritis by inhibiting neutrophil migration via PI3K/AKT/NF-κB signalling pathway
Authors: Yang Hui , Zhang Haiwei , Tian Lili , Guo Panpan , Liu Shanshan , Chen Hongwei , Sun Lingyun
Published: July 2024

Objective

To investigate the role of curcumin in the treatment of lupus nephritis (LN) by inhibiting the migration of neutrophils and the underlying mechanism involved.

Methods

Two lupus mouse models, MRL/lpr mice and R848-treated mice, were treated with 50 mg/kg curcumin by intraperitoneal injection. H&E and Masson staining were used to estimate histopathological changes in the kidney. Immunofluorescence was used to assess the deposition of immune complexes. The expression of inflammatory factors was detected by enzyme-linked immunosorbent assay (ELISA) and real-time reverse transcription polymerase reaction (RT-PCR), and the protein expression was detected by western blotting.

Results

We revealed the remarkable potential of curcumin in improving inflammatory conditions in both MRL/lpr mice and R848-induced lupus mice. Curcumin effectively decelerates the progression of inflammation and diminishes the infiltration of neutrophils and their release of pivotal inflammatory factors, thereby reducing inflammation in renal tissues. Mechanistically, curcumin significantly inhibits the expression of p-PI3K, p-AKT and p-NF-κB, which are upregulated by interleukin-8 to induce neutrophil migration and renal inflammation, thereby reducing neutrophil migration and the release of inflammatory factors.

Conclusion

Curcumin significantly inhibits the recruitment of neutrophils and the release of proinflammatory factors in the kidney by inhibiting the PI3K/AKT/NF-κB signalling pathway, providing new therapeutic targets and medication strategies for the treatment of LN.
Intraspecific variation in metabolic responses of a cool water fish to increasing temperatures
Authors: Jackson Scott A. , Lucas Kelsey N. , Wehrly Kevin E. , Alofs Karen M.
Published: July 2024

Growing impacts of climate change necessitate predicting species’ vulnerability to altered ecosystems. Assessing vulnerability requires understanding how species’ physiology, life history, and ecology vary among populations and can be altered by behavioral, plastic, and evolutionary adaptations. To examine intraspecific variation in sensitivity to climate change, we measured metabolic responses to acute and chronic temperature exposures in three rearing pond populations of walleye ( Sander vitreus), a cool-water-adapted fish species threatened by climate change. We show significant differences among rearing pond populations in response to increasing temperatures which may originate from broodstock, developmental plasticity, and acclimation. Our results indicate northern walleye may be more tolerant of acute and chronic exposure to higher temperatures by being able to maintain a higher aerobic scope than more southern populations. Furthermore, even over small geographic distances, populations can have significantly different physiological responses to environmental stressors. Quantifying variation in population-specific metabolic responses can inform predictions of growth, reproduction, and fitness across a species range and clarify the importance of within-species diversity in determining vulnerability to environmental stressors.
Generalized approach for the perturbative dynamical braneworld in D dimensions
Authors: Lin Zi-Chao , Yu Hao , Gong Yungui
Published: July 2024

In this paper, we propose an approach to derive the brane cosmology in the D-dimensional braneworld model. We generalize the “bulk-based” approach by treating the 4-brane as a small perturbation to the D-dimensional spherically symmetric spacetime. The linear corrections from a static 4-brane to the metric are derived from the linearized perturbation equations, while the nonlinear corrections are found by a parameterization of the perturbed metric solution. We use a time-dependent generalization to give the nonlinearly perturbed metric solution for the dynamical braneworld model, and analyze the stability of the model under the motion of the 4-brane. Through the fine tuning, we can recover the Friedmann equations for the universe with and without an effective cosmological constant. More importantly, the de Sitter expansion of the universe can be reproduced.
The structural evolution of temporal hypergraphs through the lens of hyper-cores
Authors: Mancastroppa Marco , Iacopini Iacopo , Petri Giovanni , Barrat Alain
Published: July 2024

The richness of many complex systems stems from the interactions among their components. The higher-order nature of these interactions, involving many units at once, and their temporal dynamics constitute crucial properties that shape the behaviour of the system itself. An adequate description of these systems is offered by temporal hypergraphs, that integrate these features within the same framework. However, tools for their temporal and topological characterization are still scarce. Here we develop a series of methods specifically designed to analyse the structural properties of temporal hypergraphs at multiple scales. Leveraging the hyper-core decomposition of hypergraphs, we follow the evolution of the hyper-cores through time, characterizing the hypergraph structure and its temporal dynamics at different topological scales, and quantifying the multi-scale structural stability of the system. We also define two static hypercoreness centrality measures that provide an overall description of the nodes aggregated structural behaviour. We apply the characterization methods to several data sets, establishing connections between structural properties and specific activities within the systems. Finally, we show how the proposed method can be used as a model-validation tool for synthetic temporal hypergraphs, distinguishing the higher-order structures and dynamics generated by different models from the empirical ones, and thus identifying the essential model mechanisms to reproduce the empirical hypergraph structure and evolution. Our work opens several research directions, from the understanding of dynamic processes on temporal higher-order networks to the design of new models of time-varying hypergraphs.
Top-philic machine learning
Authors: Barman Rahool Kumar , Biswas Sumit
Published: July 2024

In this article, we review the application of modern machine learning (ML) techniques to boost the search for processes involving the top quarks at the LHC. We revisit the formalism of convolutional Neural networks (CNNs), graph neural networks (GNNs), and attention mechanisms. Based on recent studies, we explore their applications in designing improved top taggers, top reconstruction, and event classification tasks. We also examine the ML-based likelihood-free inference approach and generative unfolding models, focusing on their applications to scenarios involving top quarks.
A Study on the Influencing Factors of Online Learning Procrastination of English Learners Based on Artificial Intelligence
Authors: Yang Yuanyuan , Chen Liang
Published: July 2024

In order to deeply analyze the causes of English learners’ procrastination in e-learning and its influence on learning effect, an artificial intelligence (AI)-based method is designed to analyze the influencing factors of procrastination. By using K-means algorithm, this method divides learners’ online learning procrastination into two categories: active procrastination and passive procrastination, and collects corresponding learning state data samples. Then, taking into account various factors, including students, teachers, and the environment, we identified 11 key factors that may contribute to learning procrastination. Then, using the artificial intelligence-based procrastination factor ranking analysis model and the cuckoo search algorithm-trained XGBoost model, we trained multiple decision tree models to learn and predict the association between these influencing factors and different procrastination types of learning states. The experimental results show that after the application of this method, through in-depth analysis of the phenomenon of procrastination in students’ online English learning, different types of procrastination and their influencing factors are successfully identified, and an effective intervention model is designed based on the analysis results, which significantly improves students’ learning efficiency and provides strong support for the intervention of procrastination. It is proved that this method has certain significance for the accurate analysis of learning delay factors and effective intervention of procrastination in English e-learning.
Stochastic averaging principle for neutral stochastic functional differential equations driven by G-Lévy process
Authors: Shen Guangjun , Fan Jingjing , Wu Jiang-Lun , Wang Zhi
Published: July 2024

In this paper, we aim to establish an averaging principle for neutral stochastic functional differential equations driven by G-Lévy processes with non-Lipschitz coefficients. Utilizing the theory of sub-linear expectations, we show that the solutions of the considered stochastic systems can be approximated by the solutions of averaged neutral stochastic functional differential equations driven by G-Lévy processes in the mean square convergence and convergence in the sense of capacity. Finally, we give an example to support our main results.
The h-vectors of edge rings of odd cycle compositions
Authors: Bhaskara Kieran , Higashitani Akihiro , Shibu Deepthi Nayana
Published: July 2024

Let [Formula: see text] be the edge ring of a finite simple graph [Formula: see text]. Investigating properties of the [Formula: see text]-vector of [Formula: see text] is of great interest in combinatorial commutative algebra. However, there are few families of graphs for which the [Formula: see text]-vector has been explicitly determined. In this paper, we compute the [Formula: see text]-vectors of a certain family of graphs that satisfy the odd cycle condition, generalizing a result of the second and third named authors. Furthermore, we obtain a characterization of the graphs in this family whose edge rings are almost Gorenstein.
Some remarks on two-periodic modules over local rings
Authors: Das Nilkantha , Dey Sutapa
Published: July 2024

In this paper, some properties of finitely generated two-periodic modules over commutative Noetherian local rings have been studied. We show that under certain assumptions on a pair of modules [Formula: see text] with [Formula: see text] being two-periodic, the natural map [Formula: see text] is an isomorphism. As a consequence, we prove that Auslander’s depth formula holds for such a Tor-independent pair. Tor-independence plays a crucial role for the depth formula to hold. Under certain assumptions on the modules, we show that a pair of modules, over a one-dimensional local ring, is Tor-independent if and only if their tensor product is torsion-free. Celikbas et al. recently showed the Huneke–Wiegand conjecture holds for two-periodic modules over one-dimensional domains. We generalize their result to the case of two-periodic modules with rank over one-dimensional local rings.
Strong metric dimension of the prime ideal sum graphs of commutative rings
Authors: Mathil Praveen , Kumar Jitender , Nikandish Reza
Published: July 2024

Let [Formula: see text] be a commutative ring with unity. The prime ideal sum graph of the ring [Formula: see text] is the simple undirected graph whose vertex set is the set of all nonzero proper ideals of [Formula: see text] and two vertices [Formula: see text] and [Formula: see text] are adjacent if and only if [Formula: see text] is a prime ideal of [Formula: see text]. In this paper, we obtain the strong metric dimension of the prime ideal sum graph for various classes of Artinian nonlocal commutative rings.
On the Jacobson radical of a semiring
Authors: Bhuniya A. K. , Sarkar Puja
Published: July 2024

Based on the minimal and simple representations of semirings, we introduce two Jacobson-type Hoehnke radicals, namely, m-radical and s-radical, of a semiring [Formula: see text]. Every minimal (simple) [Formula: see text]-semimodule is a quotient of [Formula: see text] by a regular right congruence (maximal) [Formula: see text] on [Formula: see text] such that [Formula: see text] is a maximal [Formula: see text]-saturated right ideal in [Formula: see text]. Thus the m(s)-radical becomes an intersection of a class of regular congruences. The m(s)-radical of the direct product of two semirings is the product of their individual [Formula: see text]-radicals.
Field-Induced Quantum Criticality in Two-Coupled Two-Leg Heisenberg Ladders
Authors: Ouchni Fatiha , Azzouz Mohamed
Published: July 2024

We use the bond mean field theory, which is based on the Jordan–Wigner fermionization, to investigate the quantum critical behavior of a system composed of two-coupled Heisenberg Spin-[Formula: see text] two-leg ladders in the presence of an applied magnetic field. By examining the dependence of the ground state on the magnetic field for different coupling constants, we investigate the field-induced quantum criticality. The magnetization exhibits distinct plateaus: a zero magnetization plateau for fields below a threshold value of the field [Formula: see text] and a saturation plateau for fields exceeding a second critical value [Formula: see text]. The spin bond parameters are calculated and found to show a critical behavior at [Formula: see text].
Bridging the ecological–economic–social nexus: sustainability in radioactive waste management
Authors: Schneider Gregor-Sönke , Liebscher Axel
Published: July 2024

Safe deep geological disposal of radioactive waste is a socio-technical endeavour and connects to different aspects of sustainability. Compared to other long-term infrastructure projects it is unique in terms of time and scope. It affects long temporal dimensions, has an impact on diverse ecological and economic resources, and involves different stakeholder groups. Waste management organizations (WMOs) tasked with the implementation of radioactive waste disposal have to respect these sustainability aspects and meet the respective challenges. This paper provides an introduction to the concept of sustainability and a general overview of the ecological, economic and social challenges and related initial approaches and strategies for the WMOs of deep geological disposal of radioactive waste. With a literature review, sustainability programmes of selected European WMOs are analysed to identify which approaches are being implemented to tackle the various challenges. The various approaches and measures illustrate the broad scope of sustainability in the geological disposal of radioactive waste. Corresponding activities combining technical and non-technical aspects need to be regularly reviewed and adapted to current circumstances and requirements. Differences in the approaches can be explained by differences in the implementation in terms of procedure and time. It is concluded that there is no silver bullet.
Introduction to the Special Issue on Causal Inference for Recommender Systems
Authors: Zhang Yongfeng , Chen Xu , Xu Da , Schnabel Tobias
Published: July 2024

A significant proportion of machine learning methodologies for recommendation systems are grounded in the fundamental principle of matching, utilizing perceptual and similarity-based learning approaches. These methods include both the extraction of features from data through representation learning and the derivation of similarity matching functions via neural function learning. While these models are important for recommendation systems, their foundational design philosophy primarily captures correlational signals within the data. Transitioning from correlation-based learning to causal learning in recommendation systems represents a critical area to explore, as causal models enable extrapolation beyond observational data in both representation learning and ranking tasks. Specifically, causal learning offers potential enhancements to the recommender system community across multiple dimensions, including, but not limited to, explainable, unbiased, fairness-aware, robust, and cognitive reasoning models for recommendation. This special issue is dedicated to exploring the research and practical applications of causal inference within the realms of recommendation and broader ranking scenarios. It has attracted interest from an array of researchers and practitioners on disseminating the latest developments in causal modeling for recommender systems. Moreover, it has attracted the interest of professionals from various fields such as Information Retrieval, Machine Learning, Artificial Intelligence, Natural Language Processing, Data Science, and others.
ACM Profits Considered Harmful
Authors: Bowman William J.
Published: July 2024

Dek :

The Association for Computing Machinery is very profitable, which seems at odds with the mission of the ACM, the public it serves, and its non-profit status.