bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures
Authors: Hisey Julia A , Radchenko Elina A , Mandel Nicholas H , McGinty Ryan J , Matos-Rodrigues Gabriel , Rastokina Anastasia , Masnovo Chiara , Ceschi Silvia , Hernandez Alfredo , Nussenzweig André , Mirkin Sergei M 
Published: February 2024

Abstract
CANVAS is a recently characterized repeat expansion disease, most commonly caused by homozygous expansions of an intronic (A2G3)n repeat in the RFC1 gene. There are a multitude of repeat motifs found in the human population at this locus, some of which are pathogenic and others benign. In this study, we conducted structure-functional analyses of the pathogenic (A2G3)n and nonpathogenic (A4G)n repeats. We found that the pathogenic, but not the nonpathogenic, repeat presents a potent, orientation-dependent impediment to DNA polymerization in vitro. The pattern of the polymerization blockage is consistent with triplex or quadruplex formation in the presence of magnesium or potassium ions, respectively. Chemical probing of both repeats in vitro reveals triplex H-DNA formation by only the pathogenic repeat. Consistently, bioinformatic analysis of S1-END-seq data from human cell lines shows preferential H-DNA formation genome-wide by (A2G3)n motifs over (A4G)n motifs. Finally, the pathogenic, but not the nonpathogenic, repeat stalls replication fork progression in yeast and human cells. We hypothesize that the CANVAS-causing (A2G3)n repeat represents a challenge to genome stability by folding into alternative DNA structures that stall DNA replication.
EPR-Net: constructing a non-equilibrium potential landscape via a variational force projection formulation
Authors: Zhao Yue , Zhang Wei , Li Tiejun 
Published: February 2024

ABSTRACT
We present EPR-Net, a novel and effective deep learning approach that tackles a crucial challenge in biophysics: constructing potential landscapes for high-dimensional non-equilibrium steady-state systems. EPR-Net leverages a nice mathematical fact that the desired negative potential gradient is simply the orthogonal projection of the driving force of the underlying dynamics in a weighted inner-product space. Remarkably, our loss function has an intimate connection with the steady entropy production rate (EPR), enabling simultaneous landscape construction and EPR estimation. We introduce an enhanced learning strategy for systems with small noise, and extend our framework to include dimensionality reduction and the state-dependent diffusion coefficient case in a unified fashion. Comparative evaluations on benchmark problems demonstrate the superior accuracy, effectiveness and robustness of EPR-Net compared to existing methods. We apply our approach to challenging biophysical problems, such as an eight-dimensional (8D) limit cycle and a 52D multi-stability problem, which provide accurate solutions and interesting insights on constructed landscapes. With its versatility and power, EPR-Net offers a promising solution for diverse landscape construction problems in biophysics.
Orthorexia nervosa in dietitians and dietetics students—prevalence, risk factors, and interventions: a scoping review using a systematic approach
Authors: Ephrem Chloe , Rizk Rana , Saadeh Danielle , Hallit Souheil , Obeid Sahar , Martijn Carolien 
Published: February 2024

Abstract

Context
Orthorexia nervosa (ON) is characterized by compulsive behaviors and increased concerns about healthful eating. Dietitians appear to be especially vulnerable to ON, and it is still debatable whether the disordered eating behaviors motivate individuals to enroll in nutrition programs, or whether these behaviors result from an exaggerated preoccupation with healthy eating triggered during their nutrition studies.

Objective
The aim was to provide an overview of the present state of knowledge about the prevalence, risk factors, and interventions addressing ON among dietitians and dietetics students. More specifically, it was examined whether dietitians and dietetics students differ from students attending different education programs or other health professionals with regard to the severity and risk factors of ON, and whether the extent of ON changes during the progression in the nutrition education years of study.

Data Sources
MEDLINE (Ovid), PubMed, EMBASE (Ovid), PsycInfo (EBSCO), CINAHL (EBSCO), Cochrane, ProQuest Central, CABI, ProQuest Dissertations, Google Scholar, ScienceDirect, and SpringerLink were searched on May 8, 2021, and updated on November 12, 2022.

Data Extraction
Records were screened for eligibility; study characteristics, methodology, and findings of included articles were extracted; and the methodological quality assessed using the AXIS tool. Each step was preceded by a calibration exercise and conducted independently and in duplicate by pairs of 2 reviewers. Any disagreements were resolved through discussions.

Data Analysis
A narrative synthesis was performed, whereby the characteristics, methodologies, and results of included studies were compared.

Conclusions
Results were inconclusive; yet, a general status of the relatively “high” prevalence of ON among dietitians and dietetics students was established, stressing the need for systematic research to understand and mitigate orthorexic tendencies in this group. It is still too early to answer questions pertaining to prevalence, risk factors, interventions, and differences between dietetics students and other majors when it comes to severity and progress of ON throughout the continuing years of study, or between dietitians and other professional groups.

Systematic review registration
Open Science Framework Identifier: DOI 10.17605/OSF.IO/BY5KF.
Validity of submaximal aerobic capacity and strength tests in firefighters
Authors: Hart W , Taylor D , Bishop D C 
Published: February 2024

Abstract

Background
Typically, the fitness of UK firefighters is assessed via submaximal estimate methods due to the low demands on time, money, expertise and equipment. However, the firefighter-specific validity of such testing in relation to maximum aerobic capacity (V˙O2max) and particularly muscular strength is not well established.

Aims
To examine the validity of submaximal methods to estimate V˙O2max and maximal strength in operational firefighters.

Methods
Twenty-two full-time operational firefighters (3 female) completed same-day submaximal (Chester Step Test; CST) and maximal (treadmill) assessments of V˙O2max, with a sub-sample of 10 firefighters (1 female) also completing submaximal and maximal back-squat (i.e. one repetition maximum; 1RM) assessments. All participants then completed the Firefighter Simulation Test (FFST) within 2–4 days.

Results
CST underestimated actual V˙O2max by 1.4 ml·kg–1·min–1 (~3%), although V˙O2max values were positively correlated (r = 0.61, P &lt; 0.01) and not significantly different. Estimated V˙O2max values negatively correlated with FFST performance (r = –0.42). Predicted 1RM underestimated actual 1RM by ~2%, although these values were significantly correlated (r = 0.99, P &lt; 0.001) and did not significantly differ. The strongest predictive model of FFST performance included age, body mass index, and direct maximal measures of 1RM and V˙O2max.

Conclusions
Submaximal back-squat testing offers good validity in estimating maximum firefighter strength without exposure to the fatigue associated with maximal methods. The CST provides a reasonably valid and cost-effective V˙O2max estimate which translates to firefighting task performance, although the error observed means it should be used cautiously when making operational decisions related to V˙O2max benchmarks.
CO-EXPRESSED WITH PSI ASSEMBLY1 (CEPA1) is a photosystem I assembly factor in Arabidopsis
Authors: Rolo David , Sandoval-Ibáñez Omar , Thiele Wolfram , Schöttler Mark A , Gerlach Ines , Zoschke Reimo , Schwartzmann Joram , Meyer Etienne H , Bock Ralph 
Published: February 2024

Abstract
Photosystem I (PSI) forms a large macromolecular complex of ∼580 kDa that resides in the thylakoid membrane and mediates photosynthetic electron transfer. PSI is composed of 18 protein subunits and nearly 200 co-factors. The assembly of the complex in thylakoid membranes requires high spatial and temporal coordination, and is critically dependent on a sophisticated assembly machinery. Here, we report and characterize CO-EXPRESSED WITH PSI ASSEMBLY1 (CEPA1), a PSI assembly factor in Arabidopsis (Arabidopsis thaliana). The CEPA1 gene was identified bioinformatically as being co-expressed with known PSI assembly factors. Disruption of the CEPA1 gene leads to a pale phenotype and retarded plant development but does not entirely abolish photoautotrophy. Biophysical and biochemical analyses revealed that the phenotype is caused by a specific defect in PSI accumulation. We further show that CEPA1 acts at the post-translational level and co-localizes with PSI in nonappressed thylakoid membranes. In native gels, CEPA1 co-migrates with thylakoid protein complexes, including putative PSI assembly intermediates. Finally, protein–protein interaction assays suggest cooperation of CEPA1 with the PSI assembly factor PHOTOSYSTEM I ASSEMBLY3 (PSA3). Together, our data support an important but nonessential role of CEPA1 in PSI assembly.
Synthetically derived BiAux modulates auxin co-receptor activity to stimulate lateral root formation
Authors: González-García Mary Paz , Sáez Angela , Lanza Mónica , Hoyos Pilar , Bustillo-Avendaño Estefano , Pacios Luis F , Gradillas Ana , Moreno-Risueno Miguel A , Hernaiz María José , del Pozo Juan C 
Published: February 2024

Abstract
The root system plays an essential role in plant growth and adaptation to the surrounding environment. The root clock periodically specifies lateral root prebranch sites (PBS), where a group of pericycle founder cells (FC) is primed to become lateral root founder cells and eventually give rise to lateral root primordia or lateral roots (LRs). This clock-driven organ formation process is tightly controlled by modulation of auxin content and signaling. Auxin perception entails the physical interaction of TRANSPORT INHIBITOR RESPONSE 1 (TIR1) or AUXIN SIGNALING F-BOX (AFBs) proteins with AUXIN/INDOLE-3-ACETIC ACID (Aux/IAA) repressors to form a co-receptor system. Despite the apparent simplicity, the understanding of how specific auxin co-receptors are assembled remains unclear. We identified the compound bis-methyl auxin conjugated with N-glucoside, or BiAux, in Arabidopsis (Arabidopsis thaliana) that specifically induces the formation of PBS and the emergence of LR, with a slight effect on root elongation. Docking analyses indicated that BiAux binds to F-box proteins, and we showed that BiAux function depends on TIR1 and AFB2 F-box proteins and AUXIN RESPONSE FACTOR 7 activity, which is involved in FC specification and LR formation. Finally, using a yeast (Saccharomyces cerevisiae) heterologous expression system, we showed that BiAux favors the assemblage of specific co-receptors subunits involved in LR formation and enhances AUXIN/INDOLE-3-ACETIC ACID 28 protein degradation. These results indicate that BiAux acts as an allosteric modulator of specific auxin co-receptors. Therefore, BiAux exerts a fine-tune regulation of auxin signaling aimed to the specific formation of LR among the many development processes regulated by auxin.
Meaningful interventions: Applying a citizen-centric approach to problem-solving in community policing
Authors: van Steden Ronald , den Hartog Jordi 
Published: February 2024

Abstract
Citizens generally express confidence in the police organization, but satisfaction with police services can diminish after voluntary contact with an officer. It appears that officers sometimes struggle to understand what citizens expect and need from them. Victims of crime may not necessarily wish to punish an offender; they may just want to be heard and have their problem resolved. In response, the Dutch police have introduced a pilot to provide ‘meaningful interventions’, such as conflict mediation, as a way to bridge institutional and citizen perspectives successfully. This article presents a qualitative evaluation of the pilot by applying the EMMIE framework, which stands for Effect, Mechanisms, Moderators, Implementation, and Economics, to the available data. In conclusion, meaningful interventions show promise in better aligning police service delivery with the needs and expectations of citizens. Future research is necessary to gain a fuller evidence-based analysis of how meaningful interventions work.
Do scientific research funds support emerging topic research in Chinese humanities and social sciences?
Authors: Xiang Jianqin 
Published: February 2024

Abstract
Although the research funding policy has promoted the output and effect of research, whether it can identify innovative research topics and promote discipline development is worth investigating in depth. Taking Chinese humanities and social sciences (HSS) as an example, this study uses the latent Dirichlet allocation topic model to identify the topics of the HSS projects and papers funded by China’s national research funds. The analysis reveals the effect of research funding policy on research topics in both topic selection and funding intensity: (1) the types of projects with strict restrictions on topics significantly guide the direction of research topics; (2) projects with less funding are more likely to result in emerging topic research; and (3) compared with social sciences and key universities, the funded projects of humanities and other institutions are more likely to focus on emerging topics.
Recovery Curves for Lisfranc ORIF Using PROMIS Physical Function and Pain Interference
Authors: Dong Willie , Sroka Oliver , Campbell Megan , Thorne Tyler , Siebert Matthew , Rothberg David , Higgins Thomas , Haller Justin , Marchand Lucas 
Published: February 2024

Objective:
To determine the postoperative trajectory and recovery of patients who undergo Lisfranc ORIF using PROMIS physical function (PF) and pain interference (PI).

Methods:

Design:
Retrospective cohort study

Setting:
Level 1 trauma center

Patient Selection Criteria:
Patients who underwent Lisfranc ORIF between January 2002 and December 2022 with documented PROMIS PF and/or PI scores after surgery.

Outcome Measures and Comparisons:
PROMIS PF and PI were mapped over time up to 1 year after surgery. A sub-analysis was performed to compare recovery trajectories between high and low energy injuries.

Results:
A total of 182 patients were included with average age of 38.7 (SD 15.9) years (59 high energy and 122 low energy injuries). PROMIS PF scores at 0-weeks, 6-weeks, 12-weeks, 24-weeks, and 48-weeks were 30.2, 31.4, 39.2, 43.9, and 46.7, respectively. There was significant improvement in PROMIS PF between 6-12 weeks (p<0.001), 12-24 weeks (p<0.001), and 24-48 weeks (p=0.022). A significant difference in PROMIS PF between high and low energy injuries was seen at 0-weeks (28.4 vs.31.4, p=0.010). PROMIS PI scores, at 0-weeks, 6-weeks, 12-weeks, 24-weeks, and 48-weeks were 62.2, 58.5, 56.6, 55.7, and 55.6, respectively. There was significant improvement in PROMIS PI 0-6 weeks (p=0.016). A significant difference in PROMIS PI between high and low energy injuries was seen at 48-weeks with scores of (58.6 vs. 54.2, p=0.044).

Conclusions:
After Lisfranc ORIF, patients can expect improvement in physical function up to one year after surgery, with the biggest improvement in PROMIS physical function scores between 6-12 weeks and PROMIS pain interference scores between 0-6 weeks after surgery. Regardless energy type, Lisfranc injuries seem to regain comparable physical function by 6-12 months after surgery. However, patients with higher energy Lisfranc injuries should be counseled that these injuries may lead to worse pain interference at one year after surgery as compared to lower energy injuries.

Level of Evidence:
Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence.
Randomized Controlled Trial to Compare Stapled Hemorroidopexy Plus Ligation Anopexy With Stapled Hemorroidepexy for Managing Grade III and IV Hemorroidal Disease
Authors: Elshazly Walid Galal , Abo Elros Mohmed Abdelhalim , Ali Amr Samir , Radwan Ahmed Mohamed 
Published: February 2024

BACKGROUND:
Despite the benefits of the Stapled hemorrhoidopexy in the short term, management of prolapsing hemorrhoids, the long-term results are still insufficient, regarding recurrent prolapse and patient satisfaction so in our current study we add ligation anopexy to stapled hemorroidopexy.

OBJECTIVE:
Valuation of adding ligation anopexy to stapled hemorroidopexy in improving short and long-term results in the treatment of grade III-IV hemorrhoids.

DATA SOURCES:
Between January 2018 and January 2020 we recruited 124 patients with grade III-IV hemorrhoids, at Alexandria main university hospital.

STUDY SELECTION:
Randomized controlled trial.

INTERVENTION(S):
One hundred twenty-four patients were blindly randomized into two equal groups, stapled hemorrhoidopexy (group I) and stapled hemorrhoidopexy plus ligation anopexy (group II).

MAIN OUTCOME MEASURES:
Recurrence of hemorrhoids and patient satisfaction after a follow-up period of at least two years.

RESULTS:
The average operating time was noticeably less in stapled hemorroidopexy group. Meanwhile, postoperative pain, analgesia requirement, hemorrhoids symptoms score, return to work, complications rate, and quality of life 1 month after surgery were similar. Following a mean follow-up of 36 months (interval, 24-47), group I, 10 patients (16%) complained of recurrent external swelling and/or prolapse compared to 3 patients (5%) in group II (p = 0.0368) requiring redo surgery. No redo-surgery was required in group II, furthermore, long-term patient satisfaction was significantly better in group II.

LIMITATIONS:
Longer follow-up needed and single-center experience.

CONCLUSIONS:
Stapled hemorroidopexy compared to stapled hemorroidopexy plus ligation anopexy were similar at short-term results as regard complications rate, hemorrhoids symptoms score, return to work, and quality of life. Long-term results were significantly better as regard recurrence of external swelling and/or prolapse and patient satisfaction after stapled hemorroidopexy plus ligation anopexy. See Video Abstract.

Trial registration number:
Pan African Clinical Trials Registry identifier PACTR20180100293130.
Nonpenetrating Foldable Intrastromal Keratoprosthesis: A Review of the Literature
Authors: Kilian Raphael , Lammer Jan , Roberts Philipp , Rizzo Clara , Pedrotti Emilio , Marchini Giorgio , Schmidinger Gerald 
Published: February 2024

Purpose:
To review the literature focusing on the clinical outcomes of KeraKlear (KK) (KeraMed), a foldable intrastromal keratoprosthesis.

Methods:
We searched 6 databases using 4 keywords: KeraKlear, Foldable Keratoprosthesis, Intrastromal Keratoprosthesis, and Non-penetrating Keratoprosthesis. Included studies had to be conducted in vivo on humans, published until January 3, 2023, and had to investigate the implantation of the KK. Eyes were considered at high risk of keratoprosthesis retention failure whenever there was an active inflammatory ocular surface disorder or in case of previous KK failure. We aimed at recording the postoperative complications, rate of prosthesis retention, and mean improvements in visual acuity.

Results:
We identified 144 publications, 6 of which (38 eyes) met the inclusion criteria. No randomized controlled trials were found, and some studies had significant limitations regarding sample size and follow-up duration. With a mean follow-up of 28 ± 18.8 months, postoperative complications of any kind occurred between 0% and 50% and 24% had an implant extrusion/needed a reoperation. The mean postoperative visual acuity improvement on the last follow-up was −0.83 ± 0.27 LogMAR, that is, −0.57 ± 0.3 for high-risk and −1.03 ± 0.25 for low-risk eyes, whereas 1 year after implantation, 50% of the prostheses were retained in the former and 81% in the latter group. None of the eyes developed glaucoma, endophthalmitis, or expulsive hemorrhages; none had to be eviscerated/enucleated.

Conclusions:
Despite the limited quality and quantity of evidence, the available literature seems to suggest the KK to be a valuable tool in the treatment of complicated corneal disorders. Because in many parts of the world, the access to corneal transplantation is limited, this prosthesis could represent a valid alternative.
Bilaterally subluxed diffractive intraocular lenses: big expectations and even bigger comorbidities
Authors: Fram Nicole R. , Assia Ehud , Venkateswaran Nandini , Micheletti John Morgan , Shafer Brian , Ahmed Iqbal Ike K. , Schallhorn Julie M. , Stewart Jay M. 
Published: February 2024

A 78-year-old woman with an ocular history of cataract surgery with a diffractive intraocular lens (IOL) in each eye has developed fluctuating vision, greater in the right eye than the left eye, after 4 years. She has a history of inactive central serous retinopathy and a vision potential of 20/25 + 2 in the right eye and 20/25 in the left eye. She has well-controlled diabetes, hypertension, and hypercholesterolemia. She has enjoyed her spectacle independence for some time and wishes to have her vision restored.
On examination, her uncorrected distance visual acuity (UDVA) was 20/50 in the right eye and 20/25 in the left eye and her uncorrected near visual acuity (UNVA) was J3 in the right eye and J1 in the left eye. Intraocular pressures (IOPs) measured 22 mm Hg in the right eye and 18 mm Hg in the left eye. Pupils had limited reactivity with irregularity in the right eye but no obvious relative afferent pupillary defect. Motility and confrontation visual fields were unremarkable in both eyes. Retinal acuity meter was 20/20 in both eyes, and manifest refraction was plano −1.25 × 105 20/40, J3 in the right eye and +0.50 × 20/25, J1 in the left eye.
Pertinent findings on slitlamp examination included temporal iris atrophy and transillumination defects greater in the right eye than the left eye, peripupillary pseudoexfoliative changes in both eyes, significant inferior subluxation of a diffractive 3-piece posterior chamber IOL in the capsular bag with lens-pitting peripherally and few central, moderate pseudophacodonesis, and an open posterior capsule in the right eye. In the left eye, she had mild inferior subluxation of a single-piece acrylic diffractive IOL in the capsular bag with moderate pseudophacodonesis and an open posterior capsule (Figure 1

JOURNAL/jcrs/04.03/02158034-202403000-00019/figure1/v/2024-02-20T193212Z/r/image-tiff

).
All other anterior segment findings were unremarkable. On dilated posterior examination, she had a cup-to-disc ratio of 0.50 in the right eye and 0.65 in the left eye without edema hemorrhage or pallor. There were attenuated vessels in both eyes, posterior vitreous detachment in both eyes, and a few small drusen peripherally in both eyes. There was retinal pigment epithelium irregularity and dropout parafoveal in the right eye and subfoveal in the left eye (Figure 2). There was no evidence of macular edema, subretinal fluid, choroidal thickening, or neovascular membranes. The periphery was unremarkable in both eyes.

JOURNAL/jcrs/04.03/02158034-202403000-00019/figure2/v/2024-02-20T193212Z/r/image-tiff

What testing would you obtain preoperatively to help guide your decision-making? How would you counsel the patient regarding comorbid conditions and expectations?