bluuebunny/crossref_metadata_2025 huggingface dataset:
Pneumatization of the Sphenoidal Sinus May Affect Endonasal Cranial Base Reconstruction
Authors: Ramos Henrique Faria , Pinheiro-Neto Carlos Diogenes , Possatti Lucas Loss
Published: October 2022

Objective:

The aim of this study is to verify if the length of the nasoseptal flap is sufficient to cover the tuberculum sellae and planum sphenoidale of sphenoidal sinuses with varied degrees of pneumatization

Methods:

Retrospective study of paranasal sinus computed tomography comparing the potential length of the nasoseptal flap and the length of the nasoseptal flap required for reconstruction of transtuberculum and transplanum approaches in conchal, presellar, sellar, incomplete postsellar, and complete postsellar sphenoidal sinuses

Results:

The length of the nasoseptal flap required for reconstruction of transtuberculum and transplanum approaches was directly related to the degree of pneumatization of the sphenoidal sinus. The nasoseptal flap length was adequate to cover the cranial base after transtuberculum approaches of all cases from the conchal, presellar, and sellar groups and the majority of cases from postsellar pneumatization. For transplanum approaches, the nasosseptal flap was sufficient to reconstruct defects in most cases from conchal, pre-sellar, and sellar type sinuses and in 54,9% and 19,2% in incomplete and complete postsellar, respectively.

Conclusions:

In well pneumatized sphenoidal sinus, the nasoseptal flap may not be sufficient to cover the cranial base after transtuberculum and transplanum approaches.
Alar Base Reduction with Y-V Sill Flap
Authors: Öztürk Güncel
Published: October 2022

Rhinoplasty is one of the most common surgical intervention among all surgeries in esthetic and plastic surgery procedures. The alar bases have important roles in terms of overall appearance of the nose and the functionality but the research so far which focused specifically on alar base surgery can be considered as insufficient. In the present study, the author aims to demonstrate the beneficial effects of performing Y-V flaps in reduction of the alar base during preservation rhinoplasty procedures. The present study was designed as a retrospective. The inclusion criteria consisted of the following: having a preservation rhinoplasty, having an intervention to alar base during rhinoplasty, and being willing to share the medical data and images for medical purposes. According to inclusion and exclusion criteria, the data of 223 patients were screened. The Rhinoplasty Outcome Evaluation (ROE) scores was found between 80 and 100 points after 1 year. The initial ROE score increased significantly after 12 months of surgery (P<0.001). Rate of satisfaction was excellent in 89.76% according to ROE scale. Present alar base reduction method will present an easy way for alar base reduction procedures related to the Y-V flap. This method will serve a simple and safe way for surgeons for reducing alar base and obtaining better cosmetic and functional results during rhinoplasty surgeries.

Level of Evidence: Level III, therapeutic study.
Sverzut Nasotracheal Tube Support Device: Ergonomic Management and Airway Safety in Cervicomaxillofacial Surgery
Authors: Pulino Bianca de F.B. , Guerra Raphael C. , Hochuli-Vieira Eduardo , Trivellato Alexandre E. , Sverzut Cássio E.
Published: October 2022

Nasotracheal intubation is the preferred route for general anesthesia maintenance in patients undergoing maxillofacial surgery or dental procedures. However, compression of the tracheal tube may cause superficial necrosis of the nasal wing and deformation of the external nose. Thus, proper fixation of the tracheal tube during nasotracheal intubation is important for the patient’s safety as well as that of the medical staff. Recently, a nasotracheal tube support device has been developed; thus, in this study, the aim was to present and describe the Sverzut nasotracheal tube support device and discuss the advantages of its use during nasal intubation in cervicomaxillofacial surgery. Findings from this study show that the Sverzut nasotracheal tube support device can contribute to the stabilization of the nasotracheal tube and all its connectors, aiding in the maintenance of the airway patency and minimizing the complications related to this type of intubation.
Surgeons and the Nobel Prize for Medicine
Authors: Posnick Jeffrey C.
Published: October 2022

The Nobel Prize in Medicine or physiology has been awarded yearly since 1901. Of the 111 awards given, only 3 have been bestowed to surgeons for their accomplishments in the field of clinical surgery. They came from different countries, eras, and cultures, but they shared several common traits.
Examination of Suprahyoid Muscle Resection and Other Factors Affecting Swallowing Function in Patients With Advanced Oral Cancer After Surgical Resection and Reconstruction
Authors: Nakayama Yohei , Yamakawa Nobuhiro , Ueyama Yoshihiro , Yagyuu Takahiro , Ueda Nobuhiro , Nakagawa Yosuke , Takahashi Yuka , Arikawa Sho , Kirita Tadaaki
Published: October 2022

Dysphagia is one of the most common adverse effects associated with oral cancer therapy and could greatly impair postoperative quality of life. The objective of this study was to analyze postoperative swallowing outcomes and factors influencing postoperative swallowing function in patients with advanced oral cancer who underwent primary reconstruction after surgical resection to identify patients at risk of experiencing severe dysphagia after immediate reconstruction of surgical defects, and to determine an ideal approach to provide appropriate perioperative interventions. The swallowing status was evaluated at 4 week postoperatively using the Functional Oral Intake Scale. We also analyzed the effects of patient, tumor, surgical, and other factors on postoperative swallowing function. The study included 67 patients. At 4 weeks postoperatively, 11 patients showed reduced swallowing function, whereas 56 patients showed good swallowing function. The number of resected suprahyoid muscles (odds ratio, 1.55; 95% confidence interval, 1.03–2.32; P=0.035) was an independent factor influencing postoperative swallowing function. Thus, among patients who underwent radical resection of oral cancer with primary reconstruction, those with extensive resection of the suprahyoid muscles were at higher risk of developing postoperative dysphagia. These findings are expected to facilitate increased vigilance for dysphagia, better counseling, and appropriate rehabilitation interventions.
Three-Dimensional Analysis of Vomer Volume and Deviation in Patients With Unilateral Cleft Lip and Alveolus
Authors: Li Si L. , Wu Di , Yin Ning B. , Song Tao , Wang Yong Q.
Published: October 2022

Since almost all patients with an alveolar cleft have a deviated and thickened vomer bone, the purpose of this study was to investigate the relationship between the vomer shape and the size of the alveolar cleft in patients with unilateral cleft lip and alveolus (CLA). A total of 40 adult patients with unilateral CLA were enrolled, and 40 normal adults without CLA were enrolled as controls. All patients underwent preoperative computed tomography scans and analysis by computer-aided engineering software to obtain the vomer volume (VV), deviated septal angle (DSA), and alveolar cleft volume (ACV). An independent-sample t test or nonparametric test was used to compare the VV and DSA between the unilateral CLA and control groups. The correlation between ACV, VV, and DSA in the unilateral CLA group was assessed using Pearson correlation analysis or Spearman correlation analysis. Vomer volume was significantly higher in patients with CLA (1595.35±48.45 mm3) than in the control group (1043.2±164.976 mm3) (P<0.001), as was DSA (13.099±7.0 versus 3.4398±1.74 degrees) (P<0.001). In the CLA group, VV and DSA were significantly associated with ACV (VV and ACV: r=0.886, P<0.001; DSA and ACV: r=0.543, P<0.001), and VV was significantly correlated with DSA (VV and DSA: r=0.582, P<0.001). In conclusion, the vomer is thicker and more convex in patients with unilateral CLA than in people without, and the vomer angle and degree of volume deviation correlate with alveolar cleft severity.
Racial and Socioeconomic Disparities in Prompt Craniosynostosis Workup and Treatment
Authors: Badiee Ryan K. , Maru Johsias , Yang Stephen C. , Alcon Andre , Rosenbluth Glenn , Pomerantz Jason H.
Published: October 2022

The purpose of this study was to identify racial and socioeconomic disparities in craniosynostosis evaluation and treatment, from referral to surgery. Patients diagnosed with craniosynostosis between 2012 and 2020 at a single center were identified. Chart review was used to collect demographic variables, age at referral to craniofacial care, age at diagnosis, age at surgery, and surgical technique (open versus limited incision). Multivariable linear and logistic regression models with lasso regularization assessed the independent effect of each variable. A total of 298 patients were included. Medicaid insurance was independently associated with a delay in referral of 83 days [95% confidence interval (CI) 4–161, P=0.04]. After referral, patients were diagnosed a median of 21 days later (interquartile range 7–40), though this was significantly prolonged in patients who were not White (β 23 d, 95% CI 9–38, P=0.002), had coronal synostosis (β 24 d, 95% CI 2–46, P=0.03), and had multiple suture synostosis (β 47 d, 95% CI 27–67, P<0.001). Medicaid insurance was also independently associated with diagnosis over 3 months of age (risk ratio 1.3, 95% CI 1.1–1.4, P=0.002) and undergoing surgery over 1 year of age (risk ratio 3.9, 95% CI 1.1–9.4, P=0.04). In conclusion, Medicaid insurance was associated with a 3-month delay in referral to craniofacial specialists and increased risk of diagnosis over 3 months of age, limiting surgical treatment options in this group. Patients with Medicaid also faced a 4-fold greater risk of delayed surgery, which could result in neurodevelopmental sequelae.
Surgical Techniques for the Repair of Webbed Neck: A Scoping Review
Authors: Jungbauer W. Nicholas , Rich Matthew D. , Barta Ruth J. , Lacey Martin S.
Published: October 2022

Webbed neck is a rare condition characterized by bilateral subcutaneous bands, which extend from approximately the mastoid to the acromion. Given its rarity, the literature lacks a review of the techniques used in the repair of this condition. We performed a scoping review to define and summarize the surgical techniques been used in the treatment of webbed neck, with the goal of better equipping the surgeons’ armamentarium. Two databases, PubMed and Scopus, were searched from inception through December 27, 2021. Studies were considered for inclusion if they (1) described the webbed neck condition and (2) reported results of surgical correction of this condition. Surgical outcomes and follow-up durations were reported as available. Twenty-two manuscripts were analyzed and included data on 60 patients. The most common syndrome associated with webbed neck was Turner syndrome (48 patients). The most frequently documented procedure technique was a Z-Plasty (38 patients). Other procedures described included: butterfly correction, V-Y Plasty, posterior cervical lift, skin excision, tissue expansion plus skin excision, T to M rearrangement, and subcutaneous fascial excision. Documented complications included hypertrophy of procedure scars or webbed neck recurrence. In summary, we present the first full literature review of the surgical techniques used in the repair of webbed neck. When selecting the technique for repair of the webbed neck, function and cosmesis are important considerations. Future studies should collect standardized outcomes data to appropriately assess and compare the described procedures.
Maxillary and Mandibular Healing After Facial Allotransplantation
Authors: Chang Irene A. , Bassiri Gharb Bahar , Bergfeld Wilma F. , Sardiña Luis Antonio , Djohan Risal S. , Gastman Brian R. , Siemionow Maria Z. , Papay Francis A. , Rampazzo Antonio
Published: October 2022

Introduction:

Facial transplantation has emerged as a viable option in treating devastating facial injuries.

Despite the high healing rate of Le Fort III and bilateral sagittal split osteotomies (BSSO) in nontransplant patients, few studies have reported assessment of maxillary and mandibular healing in face transplant patients compared with nontransplant patients. The aim of this study was to examine differences in bone healing in our patients.

Patients and Methods:

A retrospective chart review was conducted of facial allotransplantation patients at the Cleveland Clinic from December 2008 to inception. Demographics such as age, date of birth, and sex were recorded. Additional variables included procedures, revisions, reoperations, medications, and bone stability and healing. Computed tomography (CT) images assessed the alignment of skeletal components, bony union quality, and stability of fixation.

Results:

Three patients were included: 2 had Le Fort III segment transplantation, and 1 had transplantation of both a Le Fort III segment and mandibular BSSO. The Le Fort III segment in all patients exhibited mobility and fibrous union at the Le Fort III osteotomy on CT. In contrast, the BSSO healed uneventfully after transplantation and revision surgery, with bony union confirmed by both CT and histology of the fixation area between the donor and recipient mandible bilaterally. No patients with midfacial fibrous union required revision of the nonunion as they were clinically asymptomatic.

Conclusion:

Le Fort osteotomy demonstrates inferior healing in facial transplantation compared with the nontransplant population. In contrast, the successful healing in the mandible is likely owing to the high density of rich cancellous bone.
Language as a mechanism for reasoning about possibilities
Authors: Grigoroglou Myrto , Ganea Patricia A.
Published: October 2022

The ability to entertain and reflect on possibilities is a crucial component of human reasoning. However, the origin of this reasoning—whether it is language-based or not—is highly debated. We contribute to this debate by investigating the relation between language and thought in the domain of possibility from a developmental perspective. Our investigation focuses on disjunctive syllogism, a specific type of possibility reasoning that has been explored extensively in the developmental literature and has clear linguistic correlates. Seeking links between conceptual and linguistic representations, we review evidence on how children reason by the disjunctive syllogism and how they acquire logical and modal language. We sketch a proposal for how language and thought interact during development.

This article is part of the theme issue ‘Thinking about possibilities: mechanisms, ontogeny, functions and phylogeny’.
Imagination as a fundamental function of the hippocampus
Authors: Comrie Alison E. , Frank Loren M. , Kay Kenneth
Published: October 2022

Imagination is a biological function that is vital to human experience and advanced cognition. Despite this importance, it remains unknown how imagination is realized in the brain. Substantial research focusing on the hippocampus, a brain structure traditionally linked to memory, indicates that firing patterns in spatially tuned neurons can represent previous and upcoming paths in space. This work has generally been interpreted under standard views that the hippocampus implements cognitive abilities primarily related to actual experience, whether in the past (e.g. recollection, consolidation), present (e.g. spatial mapping) or future (e.g. planning). However, relatively recent findings in rodents identify robust patterns of hippocampal firing corresponding to a variety of alternatives to actual experience, in many cases without overt reference to the past, present or future. Given these findings, and others on hippocampal contributions to human imagination, we suggest that a fundamental function of the hippocampus is to generate a wealth of hypothetical experiences and thoughts. Under this view, traditional accounts of hippocampal function in episodic memory and spatial navigation can be understood as particular applications of a more general system for imagination. This view also suggests that the hippocampus contributes to a wider range of cognitive abilities than previously thought.

This article is part of the theme issue ‘Thinking about possibilities: mechanisms, ontogeny, functions and phylogeny’.
Intertemporal choice reflects value comparison rather than self-control: insights from confidence judgements
Authors: Bulley Adam , Lempert Karolina M. , Conwell Colin , Irish Muireann , Schacter Daniel L.
Published: October 2022

Intertemporal decision-making has long been assumed to measure self-control, with prominent theories treating choices of smaller, sooner rewards as failed attempts to override immediate temptation. If this view is correct, people should be more confident in their intertemporal decisions when they ‘successfully’ delay gratification than when they do not. In two pre-registered experiments with built-in replication, adult participants (n= 117) made monetary intertemporal choices and rated their confidence in having made the right decisions. Contrary to assumptions of the self-control account, confidence was not higher when participants chose delayed rewards. Rather, participants were more confident in their decisions when possible rewards were further apart in time-discounted subjective value, closer to the present, and larger in magnitude. Demonstrating metacognitive insight, participants were more confident in decisions that better aligned with their separate valuation of possible rewards. Decisions made with less confidence were more prone to changes-of-mind and more susceptible to a patience-enhancing manipulation. Together, our results establish that confidence in intertemporal choice tracks uncertainty in estimating and comparing the value of possible rewards—just as it does in decisions unrelated to self-control. Our findings challenge self-control views and instead cast intertemporal choice as a form of value-based decision-making about future possibilities.

This article is part of the theme issue ‘Thinking about possibilities: mechanisms, ontogeny, functions and phylogeny’.
What would have happened? Counterfactuals, hypotheticals and causal judgements
Authors: Gerstenberg Tobias
Published: October 2022

How do people make causal judgements? In this paper, I show that counterfactual simulations are necessary for explaining causal judgements about events, and that hypotheticals do not suffice. In two experiments, participants viewed video clips of dynamic interactions between billiard balls. In Experiment 1, participants either made hypothetical judgements about whether ball Bwould gothrough the gate if ball A were not present in the scene, or counterfactual judgements about whether ball Bwould have gonethrough the gate if ball A had not been present. Because the clips featured a block in front of the gate that sometimes moved and sometimes stayed put, hypothetical and counterfactual judgements came apart. A computational model that evaluates hypotheticals and counterfactuals by running noisy physical simulations accurately captured participants’ judgements. In Experiment 2, participants judged whether ball A caused ball B to go through the gate. The results showed a tight fit between counterfactual and causal judgements, whereas hypotheticals did not predict causal judgements. I discuss the implications of this work for theories of causality, and for studying the development of counterfactual thinking in children.

This article is part of the theme issue ‘Thinking about possibilities: mechanisms, ontogeny, functions and phylogeny’.
Causal learning, counterfactual reasoning and pretend play: a cross-cultural comparison of Peruvian, mixed- and low-socioeconomic status U.S. children
Authors: Wente Adrienne , Gopnik Alison , Fernández Flecha María , Garcia Teresa , Buchsbaum Daphna
Published: October 2022

Pretend play universally emerges during early childhood and may support the development of causal inference and counterfactual reasoning. However, the amount of time spent pretending, the value that adults place on pretence and the scaffolding adults provide vary by both culture and socioeconomic status (SES). In middle class U.S. preschoolers, accuracy on a pretence-based causal reasoning task predicted performance on a similar causal counterfactual task. We explore the relationship between cultural environment, pretence and counterfactual reasoning in low-income Peruvian (
N
= 62) and low-income U.S. (
N
= 57) 3- to 4-year olds, and contrast findings against previous findings in an age-matched, mixed-SES U.S. sample (
N
= 60). Children learned a novel causal relationship, then answered comparable counterfactual and pretence-based questions about the relationship. Children's responses for counterfactual and pretence measures differed across populations, with Peruvian and lower-income U.S. children providing fewer causally consistent responses when compared with middle class U.S. children. Nevertheless, correlations between the two measures emerged in all populations. Across cohorts, children also provided more causally consistent answers during pretence than counterfactually. Our findings strengthen the hypothesis that causal pretend play is related to causal counterfactual reasoning across cultural contexts, while also suggesting a role for systematic environmental differences.

This article is part of the theme issue ‘Thinking about possibilities: mechanisms, ontogeny, functions and phylogeny’.
Verbal autopsy analysis of childhood deaths in rural Gambia
Authors: Wutor Baleng Mahama , Osei Isaac , Galega Lobga Babila , Ezeani Esu , Adefila Williams , Hossain Ilias , Sarwar Golam , Mackenzie Grant
Published: October 2022

Background

In low-resource settings, it is challenging to ascertain the burden and causes of under-5 mortality as many deaths occur outside health facilities. Verbal autopsy (VA) is an important tool that provides data on causes of death in communities with limited access to health care. We aimed to determine the causes of childhood deaths by VA in rural Gambia.

Methodology

We used WHO standard questionnaires to conduct VAs for deaths under-5 years of age in the Basse and Fuladu West Health and Demographic Surveillance Systems in rural Gambia between September 01, 2019, and December 31, 2021. Two physicians assigned a cause of death and discordant diagnoses were resolved by consensus. Causes of death were classified using the International Classification of Disease 10th edition codes.

Results

VAs were conducted for 89% (647/727) of deaths. Of these deaths, 49.5% (n=319) occurred at home, 50.1% (n=324) in females, 37.1% (n=240) in neonates, and 27.1% (n=175) in infants aged 1-11 months. Outside the neonatal period, pneumonia (27.0%, n=110), diarrhoeal diseases (23.3%, n=95), and sepsis (21.6%, n=88) were the commonest primary causes of death. In the neonatal period, unspecified perinatal causes of death (29.6%, n=71), birth asphyxia (23.8%, n=57) and prematurity/low birth weight (17.1%, n=41) were the commonest causes. Severe malnutrition (28.6%, n=185), unspecified perinatal deaths (10.7%, n=69), pneumonia (10.2%, n=66), and prematurity/low birth weight (10.2%, n=66) were the commonest underlying causes of death.

Conclusion

According to VA analysis, half of deaths amongst children under-5 in rural Gambia occur at home. Pneumonia, diarrhoea, and sepsis, and the underlying cause of severe malnutrition, as well as birth asphyxia in neonates, remain the predominant causes of child mortality in rural Gambia. Improved health care and health-seeking behaviour may reduce childhood deaths in rural Gambia.
The relative contribution of COVID-19 infection versus COVID-19 related occupational stressors to insomnia in healthcare workers
Authors: Hendrickson Rebecca C. , McCall Catherine A. , Rosser Aaron F. , Pagulayan Kathleen F. , Chang Bernard P. , Sano Ellen D. , Thomas Ronald G. , Raskind Murray A.
Published: October 2022

Objective/Background

Healthcare workers have experienced high rates of psychiatric symptom burden and occupational attrition during the COVID-19 pandemic. Identifying contributory factors can inform prevention and mitigation measures. Here, we explore the potential contributions of occupational stressors vs COVID-19 infection to insomnia symptoms in US healthcare workers.

Patients/Methods

An online self-report survey was collected between September 2020 and July 2022 from N=594 US healthcare workers, with longitudinal follow-up up to 9 months. Assessments included the Insomnia Severity Index (ISI), the PTSD Checklist for DSM-5 (PCL-5), and a 13-item scale assessing COVID-19 related occupational stressors.

Results

Insomnia was common (45% of participants reported at least moderate and 9.2% reported severe symptoms at one or more timepoint) and significantly associated with difficulty completing work-related tasks, increased likelihood of occupational attrition, and thoughts of suicide or self-harm (all p<.0001). In multivariable regression with age, gender, and family COVID-19 history as covariates, past two-week COVID-related occupational stressors, peak COVID-related occupational stressors, and personal history of COVID-19 infection were all significantly related to past two-week ISI scores (β=1.7±0.14SE, β=0.08±0.03, and β=0.69±0.22 respectively). Although similar results were found for the PCL-5, when ISI and PCL-5 items were separated by factor, COVID-19 infection was significantly related only to the factor consisting of sleep-related items.

Conclusions

Both recent occupational stress and personal history of COVID-19 infection were significantly associated with insomnia in healthcare workers. These results suggest that both addressing occupational stressors and reducing rates of COVID-19 infection are important to protect healthcare workers and the healthcare workforce.
Confinement or internment? Aeromedical retrieval of pregnant people in labour: A retrospective observational study
Authors: Honan Bridget , Spring Breeanna , Gardiner Fergus William , Durup Cheryl , Venkatesh Ajay , McInnes Jessica , Schultz Rebecca , Ullah Shahid , Johnson Richard
Published: October 2022

Introduction

The aim of this study was to describe the characteristics and outcomes of remote-dwelling pregnant people with threatened labour referred for aeromedical retrieval to a regional birthing centre, as well as factors associated with birth within 48 hours.

Methods

This was a retrospective observational study of all pregnant people in the remote Central Australian region referred to the Medical Retrieval Consultation and Coordination Centre for labour >23 weeks gestation, between 12 February 2018 – 12 February 2020. Data was extracted manually from written medical records on maternal, neonatal and retrieval mission characteristics. Univariate and multivariate statistical analysis was performed.

Results

There were 116 people referred for retrieval for labour. There were no births during transport and less than half of the cases in this cohort resulted in birth within 48 hours of retrieval. Tocolysis was frequently used. Predictors of birth with 48 hours were cervical dilatation 5cm or more, preterm gestational age and ruptured membranes in the univariate analysis. Nearly one-third of this cohort required intervention or had complications during birth.

Discussion

Birth during transport for threatened labour did not occur in this cohort, and more than half of retrievals did not result in birth within 48 hours, however the high risk of birth complications may offset any benefit of avoiding aeromedical transport from remote regions. Retrieval clinicians should have a lower threshold for urgent transfer in cases of ruptured membranes, cervical dilatation of 5cm or more, or gestational age is less than 37 weeks.
Toblerone: detecting exon deletion events in cancer using RNA-seq
Authors: Lonsdale Andrew , Halman Andreas , Brown Lauren M , Kosasih Hansen J , Ekert Paul G , Oshlack Alicia
Published: October 2022

Cancer is driven by mutations of the genome that can result in the activation of oncogenes or repression of tumour suppressor genes. In acute lymphoblastic leukemia (ALL) focal deletions in IKAROS family zinc finger 1 (IKZF1) result in the loss of zinc-finger DNA-binding domains and a dominant negative isoform that is associated with higher rates of relapse and poorer patient outcomes. Clinically, the presence of IKZF1 deletions informs prognosis and treatment options. In this work we developed a method for detecting exon deletions in genes using RNA-seq with application to IKZF1. We developed a pipeline that first uses a custom transcriptome reference consisting of transcripts with exon deletions. Next, RNA-seq reads are mapped using a pseudoalignment algorithm to identify reads that uniquely support deletions. These are then evaluated for evidence of the deletion with respect to gene expression and other samples. We applied the algorithm, named Toblerone, to a cohort of 99 B-ALL paediatric samples including validated IKZF1 deletions. Furthermore, we developed a graphical desktop app for non-bioinformatics users that can quickly and easily identify and report deletions in IKZF1 from RNA-seq data with informative graphical outputs.
Comprehensive investigation and regulatory function of lncRNAs engaged in western honey bee larval immune response toAscosphaera apisinvasion
Authors: Ye Yaping , Fan Xiaoxue , Long Qi , Wang Jie , Zhang Wende , Cai Zongbing , Sun Minghui , Gu Xiaoyu , Zou Peiyuan , Chen Dafu , Guo Rui
Published: October 2022

Ascosphaera apisis a fungal pathogen that exclusively infects bee larvae, causing chalkbrood disease, which results in severe damage for beekeeping industry. Long non-coding RNAs (lncRNAs) are versatile regulators in various biological processes such as immune defense and host-pathogen interaction. However, expression pattern and regulatory role of lncRNAs involved in immune response of bee host toA. apisinvasion is still very limited. Here,Apis mellifera ligustica4-, 5-, and 6-day-old larvae inoculated byA. apisspores (AmT1, AmT2, and AmT3 groups) and corresponding un-inoculated larval guts (AmCK1, AmCK2, and AmCK3 groups) were prepared and subjected to deep sequencing, followed by identification of lncRNAs, analysis of differentially expressed lncRNAs (DElncRNAs), and investigation of DElncRNA-regulated host immune responses. In total, 3 746A. m. ligusticalncRNAs were identified, including 78 sense lncRNAs, 891 antisense lncRNAs, 1 893 intergenic lncRNAs, 346 bidirectional lncRNAs, and 210 intronic lncRNAs. Compared with corresponding un-inoculated larval guts, 357, 236, and 505 DElncRNAs were discovered in theA. apis-inoculated 4-, 5-, and 6-day-old larval guts. Additionally, there were 32 shared DElncRNAs. In AmCK1 vs AmT1, AmCK2 vs AmT2, and AmCK3 vs AmT3 comparison groups, 217, 129, and 272 DElncRNAs were respectively predicted to regulate neighboring genes viacis-acting manner, and these targets were associated with a series of GO terms and KEGG pathways of great importance, such as response to stimulus and Jak-STAT signal pathway. Moreover, competing endogenous RNA (ceRNA) network analysis indicated that 197, 95, and 356 DElncRNAs in the aforementioned three comparison groups could target 10, eight, and 21 DEmiRNAs and further target 147, 79, and 315 DEmRNAs, forming complex regulatory networks. Further investigation suggested that these targets were relevant to several key cellular and humoral immune pathways, such as phagosome and MAPK signaling pathway. Ultimately, the expression trends of nine randomly selected DElncRNAs were verified by RT-qPCR, indicative of the authenticity and reliability of our transcriptome data. Findings in this current work not only provide candidate DElncRNAs for functional study, but also lay a foundation for unclosing the mechanism underlying DElncRNA-regulated larval immune responses toA. apisinfection.
Platelets favor the outgrowth of established metastases
Authors: Garcia-Leon Maria J. , Lefebvre Olivier , Follain Gautier , Mouriaux Clarisse , Busnelli Ignacio , Larnicol Annabel , Colin Florent , Mittelheisser Vincent , Peralta Marina , Bourdon Catherine , Samaniego Raphael , Jandrot-Perrus Martine , Mangin Pierre H. , Goetz Jacky G.
Published: October 2022

Despite abundant evidence demonstrating that platelets foster metastasis, a therapeutic approach based on anti-platelet agents is not an option due to the risk of hemorrhages. In addition, whether platelets can regulate metastasis at the late stages of the disease remains unknown. In this study, we subjected syngeneic models of metastasis to various thrombocytopenic regimes to show that platelets provide a biphasic contribution to metastasis. While potent intravascular binding of platelets to tumor cells efficiently promotes metastasis, platelets further support the outgrowth of established metastases. Genetic depletion and pharmacological targeting of the platelet-specific receptor GPVI in humanized mouse models efficiently reduced the growth of established metastases, independently of active platelet binding to tumor cells in the bloodstream. Our study is the first to demonstrate therapeutic efficacy when targeting animals carrying growing metastases. It further identifies GPVI as the first molecular target whose inhibition can impair metastasis without inducing collateral hemostatic perturbations.
Structural variations in the phytoene synthase 1 gene affect carotenoid accumulation in tomato fruits and result in bicolor and yellow phenotypes
Authors: Bulot Blandine , Isabelle Sébastien , Montoya Roberto , Nadeau Louis Félix , Tremblay Jonathan , Goulet Charles
Published: October 2022

Tomato fruits normally accumulate large amounts of the red pigment lycopene in their chromoplasts. Some tomato cultivars (Solanum lycopersicum) show however distinct phenotypes, from a pure yellow hue to bicolor fruits with red and yellow sections. In this study, we show that alleles of the phytoene synthase 1 gene (PSY1), the first gene of carotenoid synthesis pathway, are responsible for the yellow, but also the bicolor phenotype. Introgression lines with thePSY1allele from the green-fruited speciesS. habrochaitesexpress less the enzyme, resulting in a bicolor phenotype. On the other hand, in tomato bicolor cultivars, the same coloration pattern is caused by a 3789 bp-deletion in the promoter region ofPSY1. Since the deletion contains part of the 5’UTR region ofPSY1, translation efficiency is likely decreased resulting in a reduction of lycopene accumulation. Furthermore, we identified that the yellowryphenotype is caused by a duplication and an inversion implicatingPSY1and the downstream neighbor gene. The genomic rearrangement change the end of PSY1 amino acid sequence. The fruits of yellowrycultivars are still able in certain conditions to accumulate lycopene near the blossom-end of the fruit, though to a lesser extent than in bicolor cultivars. In contrast, fruits of the yellowrcultivars never present fleshy red sections. These cultivars have an insertion of a single long terminal repeat from the Rider transposon in the first exon of PSY1 resulting in a non-functional protein. These results demonstrate how multiple phenotypes can arise from structural variations in a key gene.
Developing Novel Biologicals with Multiple Modes of Action (BM) to Combat the Early Blight Disease in Tomato (Solanum lycopersicum), Potato (Solanum tuberosum), and Bell Pepper (Capsicum annuum)
Authors: Patel Shloke , Aglave Balaji
Published: October 2022

Early blight, a fungal disease, leads to annual crop losses of up to 79% in tomato, potato, and bell pepper crops. Current treatment requires repeated application of chemical fungicides, resulting in fungicidal resistance. Previous studies have identified microorganisms that enhance plant growth or prevent the growth of early blight spores. This study aims to develop a biological fungicide with multiple modes of action (BM) that can be used in fungicide rotation. The average area under the disease progress curve (AUDPC) values were calculated to quantify the disease progression; formulation 2, formulation 3, and formulation 3 produced the lowest AUDPC value for the tomato, potato, and bell pepper crops, respectively. All the treatments were compared with the current industry standard used to treat early blight, and analysis of variance (ANOVA) tests, with 95% confidence intervals (CIs), of the disease severity were conducted to determine the efficacy of the treatments.
The epidemic dynamics of three childhood infections and the impact of first vaccination in 18thand 19thcentury Finland
Authors: Briga Michael , Ketola Tarmo , Lummaa Virpi
Published: October 2022

Childhood infectious such as smallpox or measles have devasted human populations, but our knowledge on the history of public health interventions remains limited. Here, we use 100 years of newly available records in 18thand 19thcentury Finland to investigate the epidemic dynamics of three infections, smallpox, pertussis and measles and the impact of the country’s first nationwide vaccination programme. Between 1750 and 1850, we found over 40 epidemics of smallpox, pertussis and measles, which together were responsible for almost 20% of all registered deaths under age 10. The start of the first vaccination programme against smallpox in 1802 promptly triggered five major changes in smallpox epidemiology: (i) decreasing mortality, (ii) increasing age at infection, (iii) increasing time between epidemics, (iv) increasing fade-outs, which all result from (v) decreased pathogen transmission. In contrast, most epidemic characteristics of the childhood infections without vaccines, pertussis and measles, changed in the opposite direction to that of smallpox: their death toll almost doubled, their reproduction number increased and pertussis, but not measles, showed a decreasing age at infection and accelerating epidemics. Our study captures a rare glimpse of the epidemiology of childhood infections in historical populations and the possible long-term impact of major public health interventions.
Simultaneous global labeling (SiGL) of 5-methylcytosine and 5-hydroxymethylcytosine by DNA alkylation with a synthetic cofactor and engineered methyltransferase
Authors: Avraham Sigal , Schütz Leonie , Käver Larissa , Dankers Andreas , Margalit Sapir , Michaeli Yael , Zirkin Shahar , Torchinsky Dmitry , Gilat Noa , Bahr Omer , Nifker Gil , Koren-Michowitz Maya , Weinhold Elmar , Ebenstein Yuval
Published: October 2022

5-methylcytosine and 5-hydroxymethylcytosine are epigenetic modifications involved in gene regulation and cancer. Here, we describe a new, simple, and high-throughput platform for multi-colour epigenetic analysis. The novelty of our approach is the ability to multiplex methylation and de-methylation signals in the same assay. We utilize an engineered methyltransferase enzyme that recognizes and labels all unmodified CpG sites with a fluorescent cofactor. In combination with the already established labelling of the de-methylation mark 5-hydroxymethylcytosine via enzymatic glycosylation, we obtained a robust platform for simultaneous epigenetic analysis of these marks. We assessed the global epigenetic levels in multiple samples of colorectal cancer and observed a reduction in 5-hydroxymethylcytosine levels, but no change in DNA methylation levels between sick and healthy individuals. We also measured epigenetic modifications in chronic lymphocytic leukaemia and observed a decrease in both modification levels. Our results indicate that this assay may be used for the epigenetic characterization of clinical samples for research and patient management.
Regulatory effects of miRNA-19a on MAD2 expression and tumorigenesis in gastric cancer
Authors: Bargiela-Iparraguirre J. , Herrero J.M. , Pajuelo-Lozano N. , Perez M. , Cales C. , Perona R. , Quiroga A.G. , Sanchez-Perez I.
Published: October 2022

MAD2 is a key mitotic checkpoint protein that when overexpressed provokes chromosomal instability in gastric cancer. In this work, we usedin silicoanalysis in combination within vitrostudies and clinical data to explore if miRNAs can regulate MAD2 at post-transcriptional level. Byin silicoanalysis, we discriminate the expression of miRNAs between tumor and normal tissue, finding miR-19a and miR-203 targeted to 3’UTRMAD2L1. Luciferase Assays proved that those miR’s are specific toMAD2L1in human cells. RT-qPCR showed an inverse correlation between the expression miRNA19 and 203 andMAD2L1in a panel of gastric cancer cell lines and in a pilot series of patients’ study. The miR-19a expression reduces the migration ability of AGS cells and invasion in MKN45 cells. Furthermore, the expression of the miRNA in combination with mitotic checkpoint drugs increase apoptosis. Finally, the TCGA analysis showed that Gastric Cancer patients with overexpression of MAD2, showed higher overall survival when miR-19a was overexpressed. Together, our results defined miR-19a as a critical regulator of MAD2 protein in Gastric Cancer and could potentially be used as a prognostic biomarker in clinical use.
Research on the network connection mode of logistics economy in Guangdong province based on social network analysis
Authors: Liu Lianhua , Xie Aili , Lyu Shiqi
Published: October 2022

Purpose

This paper aims to clarify the spatial connection characteristics and organization mode of logistics economy of 21 cities in Guangdong Province under the background of the integrated development of Guangdong, Hong Kong and Macao Bay area, and explore the spatial development characteristics and influencing factors of logistics economy in Guangdong Province.

Design/methodology/approach

This paper constructs the development level model of urban logistics economy in Guangdong Province from three aspects: demand level, supply level and support level, and uses the entropy weight method to measure the development level index of urban logistics economy in Guangdong Province. Then, the traffic accessibility index model is used to measure the traffic accessibility index between cities in Guangdong Province. Finally, using the social network analysis method, combined with the development level index of urban logistics economy in Guangdong Province and the urban traffic access index in Guangdong Province, this paper analyzes the spatial connection characteristics and influencing factors of logistics economy network in Guangdong Province.

Findings

There are regional differences in the development level of logistics economy in Guangdong Province; The overall network density of its logistics economic connection is large, but there is an imbalance in the network structure, and the core edge phenomenon is obvious; Logistics economic space presents the characteristics of double core development.

Research limitations/implications

Because the research object is the spatial connection characteristics of logistics economy in Guangdong Province, the research results may lack universality. Therefore, researchers are encouraged to put forward further tests.

Practical implications

By studying the spatial connection mode of logistics economy in 21 cities in Guangdong Province, China, this paper promotes the original methods and empirical contributions, and constructs the research framework of spatial relationship of logistics economy. This research framework is universal to a certain extent.

Social implications

This paper is conducive to promoting the integrated development of logistics economy in Guangdong Province and improving the balance of regional development of logistics economy.

Originality/value

Firstly, this study provides a new perspective to understand the spatial relationship and spatial spillover of logistics economy from relational data rather than attribute data. Secondly, This study enriched and broadened the research topic of spatial correlation of logistics economy. Thirdly, this research aims to promote the original methods and empirical contributions. Specifically, this study establishes a comprehensive research framework on the spatial network structure of logistics economy.
Dietary supplements' knowledge, attitude and consumption pattern among United Arab Emirates population
Authors: Kaddoura Najla Hussein , AlAhmad Mohammad , Hassan Nageeb , Alomar Muaed Jamal
Published: October 2022

Purpose

To study the consumption pattern, attitude and knowledge of the general population about dietary supplements (DS) in the United Arab Emirates (UAE).

Design/methodology/approach

A community-based cross-sectional study was conducted to collect data on knowledge, attitude and consumption pattern related to the use of DS. Participants aged = 18 years were asked to complete a self-administered online questionnaire that included demographic characteristics, health and lifestyle information, consumption patterns, attitudes and knowledge levels regarding the use of DS.

Findings

A total of 207 individuals participated in the study, and 117 (56.5%) participants reported using DS products as influenced by the pandemic of coronavirus disease 2019 (COVID-19), of which 63 (53.8%) participants had been using DS for more than one month but less than one year. The majority of the participants was females (64.7%), non-UAE nationals (60.9%) and employed (51.7%). Multivitamins (77.8%) were the most commonly used DS. Use of DS was more prevalent among older participants (n = 78 (61.9%), p = 0.006), non-UAE nationals (n = 79 (62.7%), p = 0.025) and employed (n = 69 (64.5%), p = 0.023). Improving general health (76.1%) and immune booster (47%) were the most frequently identified reasons for using DS, which is relatable to the COVID-19 pandemic. The majority of study participants (72.12%) reported knowing relatively little about the use of DS. About 154 participants (74.4%) did not know that DS products do not treat diseases.

Research limitations/implications

Further studies with a larger sample size need to be conducted to examine the association between gender or chronic disease and the consumption and type of DS products used to fill the gap in the literature and overcome the limitations identified in this study.

Originality/value

This study highlights the need for community education programs and strategies that can raise awareness of the health benefits and risks of using DS. Further studies with a larger sample size need to be conducted to examine the association between gender or chronic disease and the consumption and type of DS products used to fill the gap in the literature and overcome the limitations identified in this study.