bluuebunny/crossref_metadata_2025 huggingface dataset:
Response to Selection of Indigenous Chicken in Rwanda Using Within-Breed Selection Strategy
Authors: Habimana Richard , Ngeno Kiplangat , Okeno Tobias
Published: June 2024

The study evaluated response to selection from within-breed selection strategy for conventional (CBS) and genomic (GBS) breeding schemes. These breeding schemes were evaluated in both high-health environments (nucleus) and smallholder farms (commercial). Breeding goal was to develop a dual-purpose IC for both eggs and meat through selective breeding. Breeding objectives were body weight (BW), egg weight (EW), egg number (EN) and resistance to Newcastle disease (AbR). A deterministic simulation was performed to evaluate rates of genetic gain and inbreeding. Base population in the nucleus was made up of 40 cockerels and 200 pullets. Selection pressure was 4% and 20% in the males and the females, respectively. The impact of nucleus size and selection pressure on rates of genetic gain and inbreeding of the breeding program was investigated through sensitivity analysis. SelAction software was used to predict rates of genetic gain and inbreeding. Results showed that using CBS in the nucleus, the breeding goal was 340.41\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\$ and 1.13 times higher than that in the commercial flock. Inbreeding rate per generation of selected chicken in the nucleus was 1.45% and lower by 1.32 times compared to their offspring under smallholder farms. Genetic gains per generation in the nucleus for BW and EN traits were 141.10 g and 1.07 eggs and 1.12 and 1.10 times greater than those in smallholder farms, respectively. With GBS, the breeding goal was increased by 3.00 times whereas inbreeding rate was reduced by 3.15 times. Besides, using GBS, the selected birds in the nucleus were relatively similar to those in a commercial environment. Finally, the study revealed that the nucleus size and mating ratio influence the rates of genetic gain and inbreeding in both GBS and CBS. This study shows that IC in Rwanda have the potential to be improved through within-breed selection strategy using either CBS or GBS.
Assessment of Teacher Competence and Quality Delivery of Comprehensive Sexuality Lessons in Rural Public Secondary Schools of Muchinga Province of Zambia
Authors: Chibalange Mulenga , Annie Penda
Published: June 2024

The study focused on assessing teacher competence and quality delivery of Comprehensive Sexuality lessons in rural public secondary schools of Muchinga province of Zambia. The main objective was to ascertain the level of teacher competency in quality delivery of Comprehensive Sexuality Education lessons. The research employed Quantitative method. It used positivism paradigm. It employed descriptive design which described the state of affairs of Comprehensive Sexuality Education as it existed at the time when the research was conducted. The study sample comprised of the total number of 62 teacher respondents. It employed the close ended questionnaire. The study ascertained that Some teachers were competent, while others were not because the lowest mean score of 1.13 was for "I attended School Based Continuous Professional Development in Comprehensive Sexuality Education" and the highest mean score 1.77 was for "I trained through cascading model.” the statistical tests were significant because the difference between two mean was equated to less than 0.05, the regression resulted indicated that more teachers were trained using School Based Continuous Professional Development while a few teachers were trained using Cascading model which is the better way of training teachers for Comprehensive Sexuality Education. The recommendations for this research were that; Comprehensive Sexuality Education should be implemented in all schools, school leadership should champion the implementation of it, School leaders should ensure the development of deliberate Comprehensive Sexuality Education school policy in all schools and facilitate adherence to its implemented. School leaders to intensify more School Based Continuous Professional Development meetings in order to capacity build teachers in Comprehensive Sexuality Education and teachers should continue using subjective pedagogical skills which makes learners freely share their sexuality experiences. It is highly recommended that, the government should develop a deliberate policy of teaching Comprehensive Sexuality Education as a standalone subject and continue training teachers in Comprehensive Sexuality Education during in-service and pre-service trainings. The future recommendation from this study was that, assessments of teacher competence and quality delivery of comprehensive sexuality lessons in selected public secondary schools of Muchinga province of Zambia research should be conducted in other secondary schools of Muchinga Province of Zambia.
Visitor Satisfaction on Attractions and Attributes at Tarangire National Park
Authors: Kantini Keaboka , Kahana Ladislaus , Sanya John , Mremi Rudolf , Nyakyi Vicent , Kiondo Khalfan , Goroi Ebenezer
Published: June 2024

Existing tourist destinations draw an increasing number of visitors as travel and tourism continue to rise. In this scenario, the growth in demand for tourism gives rise to new markets, which means that tourism sites are facing more and more intense competition which makes visitor satisfaction on tourism destination a prerequisite for tourism destination development. It is for this reason this research was undertaken. The study was aimed at assessing visitor satisfaction on attractions and attributes at Tarangire National Park. Questionnaire was used for data collection and a total of 242 visitors (tourists) were sampled. The results showed that visitor satisfaction was highly significant between country of origin and accommodation (F = (1.359), df = 64, p< 0.000), attraction (F = (1.469), df = 64, p< 0.000), Game viewing roads (F = (99.32), df = 64, p< 0.003), and significant for interpretation (F = (85.745), df = 64, p< 0.036), game viewing (F = (85.190), df = 64, p< 0.040), and signage (F = (84.479), df = 64, p< 0.044), highly significant for nature of travel and signage (F = (22.620), df = 64, p< 0.000), and significant for game viewing (F = (10.668) df = 64, p< 0.005). Out of 15 attractions which were identified, elephant was considered the best attraction and the least was ostrich. Generally, tourists were satisfied with the attractions, attributes and services provided by Tarangire National Park and offers the best attractions with high number of elephants and diverse wildlife populations which provide a good view that contributes to enjoyment and satisfaction to visitors.
Predictive Value of Thromboelastography for Postoperative Blood Loss in Infants Undergoing Cardiac Surgery
Authors: null Yuan Yuan
Published: June 2024

Thromboelastography (TEG) has emerged as a critical tool in promptly identifying the risk of postoperative bleeding, especially in infants and young children undergoing cardiac surgery. By meticulously analyzing TEG parameters, clinicians gain a profound understanding of patients' coagulation status, enabling timely intervention to minimize and manage postoperative bleeding risks. The present study adopts a rigorous, prospective, and observational approach to explore the relationship between intraoperative TEG test results and postoperative blood loss. Furthermore, it aims to assess the potential of intraoperative TEG testing as an early predictor of postoperative bleeding in high-risk pediatric patients. In this process, a key focus is placed on perioperative red blood cell suspension and platelet transfusion volume, as well as their association with TEG testing outcomes. Our findings reveal a significant correlation between the volume of red blood cell suspension and platelet transfusion and the MA value derived from TEG testing. The MA value, a pivotal indicator in TEG test results, represents the maximum clotting strength. Notably, during perioperative red blood cell suspension and platelet transfusion, the MA value often exhibits corresponding changes. These changes not only reflect improvements in coagulation function but also provide clinicians with an objective basis for evaluating the effectiveness of blood transfusion. However, despite the notable impact of blood transfusion on MA values, our study did not detect statistically significant associations between blood transfusion and other TEG parameters, including TEG-ACT values, α-Angle, and LY30. This absence of significant associations may be attributed to the differential effects of various transfusion components on the coagulation process, as well as the influence of confounding factors such as patient age, comorbidities, and surgical procedure type.
Quartic Transmuted Exponential Distribution: Characteristics and Parameter Estimation
Authors: Manu Jones Asante , Howard Nathaniel , Nkansah Bismark Kwao
Published: June 2024

The scope for generating high-rank transmuted distributions has expanded beyond the cubic to achieve improved performance in baseline distributions such as those of the Gamma type. This paper develops a Quartic Rank Transmutation Distribution (QRTD), a new family of transmuted distributions with enhanced flexibility for modelling complex data problems, including those with multi-modal distributions. Application is carried out to obtain a transmuted exponential distribution (QTED). Various characteristics of the new exponential distribution are presented, including the cumulative distribution function, the reliability and hazard functions, moments, and relevant order statistics. These features support the legitimacy and robustness of the proposed QTED. Additionally, the paper identifies specific parameter ranges that exhibit notable behaviours in the new distribution and its survival quantities. The maximum likelihood estimates of parameters are described, with simulation studies indicating that their precision improves with larger sample sizes. The performance of the QTED is found to be superior to existing lower-rank cubic and quadratic transmuted exponential distributions based on information criteria using real lifetime data. The applications demonstrate that the high-rank transmutation map could be instrumental in obtaining new transmutations of other relevant distributions with improved performance. This development signifies a major advancement in the field of probability distributions, offering more sophisticated tools for statisticians and researchers to model and analyse complex data patterns more accurately and effectively. Thus, the QRTD and its applications hold significant promise for future research and practical implementations in various statistical and applied fields.
Factors Affecting the Expected Outcomes of Implementing Comprehensive Sexuality Education on Learners in Rural Public Secondary Schools of Muchinga Province of Zambia
Authors: Chibalange Mulenga , Annie Penda
Published: June 2024

The study was focused on the factors affecting the expected outcomes of implementing Comprehensive Sexuality Education in rural public secondary schools of Muchinga province of Zambia. The main objectives was to identify factors that affects the implementation of Comprehensive Sexuality Education. The research employed Qualitative method. It used interpretivism paradigm. It employed descriptive design which described the state of affairs of Comprehensive Sexuality Education as it existed at the time when the research was conducted. The study sample comprised of headteachers, teachers, parents and learners with the total number of 384. It employed three instruments namely; semi structured interviews for headteachers, teachers, parents and learners, the close ended questionnaires administered on teachers, parents and learners whereas observation checklist was on used to teachers and learners. The study identified various factors for implementing Comprehensive Sexuality Education such as; learners having difficulties in sharing experiences to friends who have already been exposed to unhealthy and unsafe sexual experiences, inaccurate information on sexuality matters found on social media, difficulty in understanding some sexuality terms in English, being uncomfortable when learning about private parts which sounds like insults, learners fail to abstain from sexual intercourse after learning instead they opted to experiment what they were learning, inappropriate dress code among some female learners and teachers, inappropriate cultural and traditional practices, such as elopement. Parents who have difficulties in understanding why their children are learning Comprehensive Sexuality Education should be counselled and sensitized by school leaders. It is highly recommended that, the government should develop a deliberate policy of teaching Comprehensive Sexuality Education as a standalone subject and intensify the training of teachers in Comprehensive Sexuality Education using cascading model during in-service and pre-service trainings. The future recommendation from this study was that, A research on exploring the factors affecting the implementation of Comprehensive Sexuality Education and its expected outcomes in selected rural public secondary schools of Muchinga province of Zambia would be worthwise in order to establish the expected outcomes on learners. The same research should be conducted in other rural settings of Muchinga Province.
How Much Physical Activity Is Needed for 75 Year and Older Adults: Using NHANES Datasets
Authors: Chen Chunfang , Jacelon Cynthia , Choi Jeungok
Published: June 2024

Targets: To examine the amount/level of Physical Activity (PA) needed to generate the most health benefits in noninstitutionalized 75 year and older U.S. resident adults. Intervention description: A total of 598 sample participants aged 75 year and above from National Health And Nutrition Examination Survey (NHANES) 2005-2006 datasets were included. Actigraph-monitored daily step counts, self-reported PA duration (time spent in weekly PA) and weekly energy expenditure were used to describe PA level/amount. Functional ability was expressed using the total levels of difficulties in doing twenty-one types of daily activities. PRISM Dose-response Curves Stimulation Variable slope model was applied to examine the needed PA level/amount in the population. Mechanisms of action: PA benefits functional health in 75 year and older adults. Older females aged 75- 84 year need at least 150 mins/ 800 kcal energy expenditure per week or 5,800 daily steps to reach the most functional benefits. Older men aged 75-84 year need walk about 5,800 steps/day to achieve higher level of functionality. Older adults aged 85 years and above need to spend about 240 minutes/week on PA to gain health benefits. Outcomes: Older males generally need/engage in more amount of PA compared to their female counterparts. Between 75-84 year old male and female adults, PA intensity is more important/reflective in male for expressing PA amount, while time spent in PA is more meaningful to older females. There is no difference in needed PA amount between different genders in 85 year and older adults.
The Global Care Chain: Analyzing the Increasing Feminization of Care Work Across Borders
Authors: Shahd Alasaly
Published: June 2024

With the rise in globalization, there has been an increase in migration, specifically labor migration. Women migrating to perform care labor has exploded after women formally entered the global labor market. Although many female migrants are independently traveling as the primary breadwinners of their households, they remain underappreciated, invisible, under-waged, and exploited. Upon relocating from countries in the global south to conduct care work in more affluent nations or communities, they leave their dependents behind, ultimately in the care of another female, typically a family member, or yet another more impoverished woman. At this point, the global care chain is not a single, linear chain but rather an intersecting one composed of numerous chains that multiple women become a part of. Therefore these intersections between the public and private, the paid and unpaid, and the productive and reproductive forms of care work are present. In addition, although globalization and neoliberal policy have benefited some women globally, it has dramatically made women who migrate for global care work and labor suffer. When women migrate, the global care chain often becomes an entire phenomenon through which many things intersect. On the one hand, we witness capitalism, feminization of migration, globalization, and neoliberalism interacting while also intersecting with care, emotional work, and gender relations. The goal of this paper is to examine and connect the intersectional effects on women by examining global care work in Asia and Latin America. In addition, we ask the following questions: How can we create change so that women's work is no longer invisible? How can we build a society where individuals are esteemed not just on monetized work but also on reproductive work? Will reproductive labor ever be considered labor? And finally, we will propose some preliminary solutions to begin framing steps forward.
Seasons, Shorelines, and Their Effects on the Tropical Circulation and Hydrological Cycle
Authors: McKinney Matthew , Mitchell Jonathan
Published: June 2024

This work is a direct continuation of McKinney et al., who attempted to create a planet with Earth-like temperatures and physical properties but with precipitation and circulation patterns that were Titan-like. McKinney et al. attempted to do so by changing only three basic planetary parameters: the ratio of dry land to ocean on the surface, the rotation period, and the volatility of the condensable. Each of these parameters is varied from an Earth-like value to a Titan-like one to analyze the climate transition between these two planetary archetypes. In this work, we expand on McKinney et al. by including a seasonal cycle and increasing the number of diagnostic criteria for determining Titan-like dynamics. The simulations use Earth-like obliquity and an Earth-like solar constant. We find that the presence of a dry land strip extending to at least 55°N/S is most effective at creating Titan-like climatic conditions on an otherwise Earth-like planet, such as high-latitude summer precipitation maxima and a low-humidity equator. In contrast, slow rotation and high atmospheric vapor abundance have minimal climatic impacts despite being characteristic features of Titan. Our experiments show that it is not difficult to produce distinctly Titan-like features in an Earth-like GCM with minimal changes to its fundamental parameters. This suggests that Earth-like planets could have a large range of global climate states throughout their history just through changes in topography. Similarly, Titan may have experienced more Earth-like climate states in periods where its tropics were wetter.
Weather System Contributions to High Streamflow in Halele‘a, Kaua‘i
Authors: Sears Mya J. , Nugent Alison D. , Tsang Yinphan
Published: June 2024

The northeasterly facing, windward side of the Island of Kaua‘i (part of the State of Hawai‘i, United States) is prone to heavy rainfall events due to its topographical features and geographical location. Persistent northeasterly trade winds, coupled with steep changes in elevation, create an ideal environment for orographic precipitation. In addition, due to Kaua‘i’s 22°N latitude, the island often experiences midlatitude weather features such as kona lows, upper-level lows, and cold fronts that frequently result in high rainfall and river discharge conditions. This work uses data from river gauges in Halele‘a to understand the seasonality and impacts of the main atmospheric disturbances on two rivers in the region. The seasonality study showed that the majority of extreme flooding events occurred during the cool season and were predominantly caused by cold fronts and upper-level troughs. The historical analysis used atmospheric disturbance cases to determine that kona lows were likely to cause high streamflow in both studied Halele‘a rivers, and upper-level lows had an approximately equal probability of causing high streamflow or not. The findings that come from this project can provide context to atmospheric disturbances in Halele‘a and help community members identify and anticipate the types of events that may contribute to flooding.

Significance Statement

The north shore of the Island of Kaua‘i is prone to extreme rainfall and flooding due to interactions between the typical wind patterns and the nearby mountain range. A majority of flooding events occur during the cool season (October–April) because most of the weather events that produce extreme rainfall occur during these months. Here, we examined the top 50 flooding events in two of Kaua‘i’s north shore rivers and found that cold fronts and upper-level low pressure systems are often responsible for flooding. Additionally, any kona low is likely to cause high streamflow. This study increases the understanding of flood causes and likelihood in northern Kaua‘i.
Headache prevalence and demographic associations in the Delhi and National Capital Region of India: estimates from a cross-sectional nationwide population-based study
Authors: Chowdhury Debashish , Krishnan Anand , Duggal Ashish , Amarchand Ritvik , Husøy Andreas , Steiner Timothy J.
Published: June 2024

Background

India is a large and populous country where reliable data on headache disorders are relatively scarce. This study in northern India (Delhi and National Capital Territory Region [NCR], including surrounding districts in the States of Haryana, Uttar Pradesh and Rajasthan) continues the series of population-based studies within the Global Campaign against Headache and follows an earlier study, using the same protocol and questionnaire, in the southern State of Karnataka.

Methods

This cross-sectional study used the Global Campaign’s established methodology. Biologically unrelated Indian nationals aged 18–65 years were included through multistage random sampling in both urban and rural areas of NCR. Interviews at unannounced household visits followed the structured Headache-Attributed Restriction, Disability, Social Handicap and Impaired Participation (HARDSHIP) questionnaire in its original English version or in the validated Hindi version. Demographic enquiry was followed by a neutral headache screening question and diagnostic questions based on the International Classification of Headache Disorders edition 3 (ICHD-3), which focused on each respondent’s most bothersome headache. Questions about headache yesterday (HY) enabled estimation of 1-day prevalence. A diagnostic algorithm first identified participants reporting headache on ≥ 15 days/month (H15+), diagnosing probable medication-overuse headache (pMOH) in those also reporting acute medication use on ≥ 15 days/month, and “other H15+” in those not. To all others, the algorithm applied ICHD-3 criteria in the order definite migraine, definite tension-type headache (TTH), probable migraine, probable TTH. Definite and probable diagnoses were combined.

Results

Adjusted for age, gender and habitation, 1-year prevalences were 26.3% for migraine, 34.1% for TTH, 3.0% for pMOH and 4.5% for other H15+. Female preponderance was seen in all headache types except TTH: migraine 35.7% vs. 15.1% (aOR = 3.3; p < 0.001); pMOH 4.3% vs. 0.7% (aOR = 5.1; p < 0.001); other H15 + 5.9% vs. 2.3% (aOR = 2.5; p = 0.08). One-day prevalence of (any) headache was 12.0%, based on reported HY. One-day prevalence predicted from 1-year prevalence and mean recalled headache frequency over 3 months was slightly lower (10.5%).

Conclusions

The prevalences of migraine and TTH in Delhi and NCR substantially exceed global means. They closely match those in the Karnataka study: migraine 25.2%, TTH 35.1%. We argue that these estimates can reasonably be extrapolated to all India.
A potentially lifesaving error: unintentional high-dose adrenaline administration in anaphylaxis-induced cardiac arrest; a case report
Authors: Hans Felix Patricius , Benning Leo , Pooth Jan-Steffen , Busch Hans-Jörg
Published: June 2024

Background

Cardiopulmonary resuscitation is a crucial skill for emergency medical services. As high-risk-low-frequency events pose an immense mental load to providers, concepts of crew resource management, non-technical skills and the science of human errors are intended to prepare healthcare providers for high-pressure situations. However, medical errors occur, and organizations and institutions face the challenge of providing a blame-free error culture to achieve continuous improvement by avoiding similar errors in the future. In this case, we report a critical medical error during an anaphylaxis-associated cardiac arrest, its handling and the unexpected yet favourable outcome for the patient.

Case presentation

During an out-of-hospital cardiac arrest due to chemotherapy-induced anaphylaxis, a patient received a 10-fold dose of epinephrine due to shortcomings in communication and standardization via a central venous port catheter. The patient converted from a non-shockable rhythm into a pulseless ventricular tachycardia and subsequently into ventricular fibrillation. The patient was cardioverted and defibrillated and had a return of spontaneous circulation with profound hypotension only 6 min after the administration of 10 mg epinephrine. The patient survived without any residues or neurological impairment.

Conclusions

This case demonstrates the potential deleterious effects of shortcomings in communication and deviation from standard protocols, especially in emergencies. Here, precise instructions, closed-loop communication and unambiguous labelling of syringes would probably have avoided the epinephrine overdose central to this case. Interestingly, this serious error may have saved the patient’s life, as it led to the development of a shockable rhythm. Furthermore, as the patient was still in profound hypotension after administering 10 mg of epinephrine, this high dose might have counteracted the severe vasoplegic state in anaphylaxis-associated cardiac arrest. Lastly, as the patient was receiving care for advanced malignancy, the likelihood of termination of resuscitation in the initial non-shockable cardiac arrest was significant and possibly averted by the medication error.
Molecular genetic diversity and linkage disequilibrium structure of the Egyptian faba bean using Single Primer Enrichment Technology (SPET)
Authors: Sallam Ahmed , Amro Ahmed , Mourad Amira M. I. , Rafeek Abdallah , Boerner Andreas , Eltaher Shamaseldeen
Published: June 2024

Faba bean is an important legume crop. The genetic diversity among faba bean genotypes is very important for the genetic improvement of target traits. A set of 128 fab bean genotypes that are originally from Egypt were used in this study to investigate the genetic diversity and population structure. The 128 genotypes were genotyped using the Single Primer Enrichment Technology (SPET) by which a set of 6759 SNP markers were generated after filtration. The SNP markers were distributed on all chromosomes with a range extending from 822 (Chr. 6) to 1872 (Chr.1). The SNP markers had wide ranges of polymorphic information content (PIC), gene diversity (GD), and minor allele frequency. The analysis of population structure divided the Egyptian faba bean population into five subpopulations. Considerable genetic distance was found among all genotypes, ranging from 0.1 to 0.4. The highly divergent genotype was highlighted in this study and the genetic distance among genotypes ranged from 0.1 and 0.6. Moreover, the structure of linkage disequilibrium was studied, and the analysis revealed a low level of LD in the Egyptian faba bean population. A slow LD decay at the genomic and chromosomal levels was observed. Interestingly, the distribution of haplotype blocks was presented in each chromosome and the number of haplotype block ranged from 65 (Chr. 4) to 156 (Chr. 1). Migration and genetic drift are the main reasons for the low LD in the Egyptian faba bean population. The results of this study shed light on the possibility of the genetic improvement of faba bean crop in Egypt and conducting genetic association analyses to identify candidate genes associated with target traits (e.g. protein content, grain yield, etc.) in this panel.
UnCoVar: a reproducible and scalable workflow for transparent and robust virus variant calling and lineage assignment using SARS-CoV-2 as an example
Authors: Thomas Alexander , Battenfeld Thomas , Kraiselburd Ivana , Anastasiou Olympia , Dittmer Ulf , Dörr Ann-Kathrin , Dörr Adrian , Elsner Carina , Gosch Jule , Le-Trilling Vu Thuy Khanh , Magin Simon , Scholtysik René , Yilmaz Pelin , Trilling Mirko , Schöler Lara , Köster Johannes , Meyer Folker
Published: June 2024

Background

At a global scale, the SARS-CoV-2 virus did not remain in its initial genotype for a long period of time, with the first global reports of variants of concern (VOCs) in late 2020. Subsequently, genome sequencing has become an indispensable tool for characterizing the ongoing pandemic, particularly for typing SARS-CoV-2 samples obtained from patients or environmental surveillance. For such SARS-CoV-2 typing, various in vitro and in silico workflows exist, yet to date, no systematic cross-platform validation has been reported.

Results

In this work, we present the first comprehensive cross-platform evaluation and validation of in silico SARS-CoV-2 typing workflows. The evaluation relies on a dataset of 54 patient-derived samples sequenced with several different in vitro approaches on all relevant state-of-the-art sequencing platforms. Moreover, we present UnCoVar, a robust, production-grade reproducible SARS-CoV-2 typing workflow that outperforms all other tested approaches in terms of precision and recall.

Conclusions

In many ways, the SARS-CoV-2 pandemic has accelerated the development of techniques and analytical approaches. We believe that this can serve as a blueprint for dealing with future pandemics. Accordingly, UnCoVar is easily generalizable towards other viral pathogens and future pandemics. The fully automated workflow assembles virus genomes from patient samples, identifies existing lineages, and provides high-resolution insights into individual mutations. UnCoVar includes extensive quality control and automatically generates interactive visual reports. UnCoVar is implemented as a Snakemake workflow. The open-source code is available under a BSD 2-clause license at github.com/IKIM-Essen/uncovar.
The genomic landscape of Ménière's disease: a path to endolymphatic hydrops
Authors: Fisch Kathleen M. , Rosenthal Sara Brin , Mark Adam , Sasik Roman , Nasamran Chanond A. , Clifford Royce , Derebery M. Jennifer , Boussaty Ely , Jepsen Kristen , Harris Jeffrey , Friedman Rick A.
Published: June 2024

Background

Ménière's disease (MD) is a disorder of the inner ear that causes episodic bouts of severe dizziness, roaring tinnitus, and fluctuating hearing loss. To date, no targeted therapy exists. As such, we have undertaken a large whole genome sequencing study on carefully phenotyped unilateral MD patients with the goal of gene/pathway discovery and a move towards targeted intervention. This study was a retrospective review of patients with a history of Ménière's disease. Genomic DNA, acquired from saliva samples, was purified and subjected to whole genome sequencing.

Results

Stringent variant calling, performed on 511 samples passing quality checks, followed by gene-based filtering by recurrence and proximity in molecular interaction networks, led to 481 high priority MD genes. These high priority genes, including MPHOSPH8, MYO18A, TRIOBP, OTOGL, TNC, and MYO6, were previously implicated in hearing loss, balance, and cochlear function, and were significantly enriched in common variant studies of hearing loss. Validation in an independent MD cohort confirmed 82 recurrent genes. Pathway analysis pointed to cell–cell adhesion, extracellular matrix, and cellular energy maintenance as key mediators of MD. Furthermore, the MD-prioritized genes were highly expressed in human inner ear hair cells and dark/vestibular cells, and were differentially expressed in a mouse model of hearing loss.

Conclusion

By enabling the development of model systems that may lead to targeted therapies and MD screening panels, the genes and variants identified in this study will inform diagnosis and treatment of MD.
Determination of anthracnose (Colletotrichum fructicola) resistance mechanism using transcriptome analysis of resistant and susceptible pear (Pyrus pyrifolia)
Authors: Tang Xiaomei , Lu Fen , Xiao Ziwen , Wang Yue , Hu Guoqing , Cai Kexin , Yin Ruichang , Song Wei , Xie Luoluo , Guo Guoling , Wang Wenming , Liu Lun , Liu Li , Ye Zhenfeng , Heng Wei , Guo Xianping , Wang Dongsheng , Jia Bing
Published: June 2024

Background

Anthracnose, mainly caused by Colletotrichum fructicola, leads to severe losses in pear production. However, there is limited information available regarding the molecular response to anthracnose in pears.

Results

In this study, the anthracnose-resistant variety ‘Seli’ and susceptible pear cultivar ‘Cuiguan’ were subjected to transcriptome analysis following C. fructicola inoculation at 6 and 24 h using RNA sequencing. A total of 3186 differentially expressed genes were detected in ‘Seli’ and ‘Cuiguan’ using Illumina sequencing technology. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses indicated that the transcriptional response of pears to C. fructicola infection included responses to reactive oxygen species, phytohormone signaling, phenylpropanoid biosynthesis, and secondary metabolite biosynthetic processes. Moreover, the mitogen-activated protein kinase (MAPK) signaling pathway and phenylpropanoid biosynthesis were involved in the defense of ‘Seli’. Furthermore, the gene coexpression network data showed that genes related to plant–pathogen interactions were associated with C. fructicola resistance in ‘Seli’ at the early stage.

Conclusion

Our results showed that the activation of specific genes in MAPK, calcium signaling pathways and phenylpropanoid biosynthesis was highly related to C. fructicola resistance in ‘Seli’ and providing several potential candidate genes for breeding anthracnose-resistant pear varieties.
Functional validation of AaCaM3 response to high temperature stress in Amorphophallus albus
Authors: Niu Yi , Zhou Zixuan , Yue Zhenyu , Zhang Xiaofei , Jiang Xuekuan , Hu Lingyu , Liu Quanshuo , Zhang Xu , Dong Kun
Published: June 2024

Amorphophallus is a perennial monocotyledonous herbaceous plant native to the southwestern region of China, widely used in various fields such as food processing, biomedicine and chemical agriculture. However, Amorphophallus is a typical thermolabile plant, and the continuous high temperature in summer have seriously affected the growth, development and economic yield of Amorphophallus in recent years. Calmodulin (CaM), a Ca2+ sensor ubiquitous in eukaryotes, is the most important multifunctional receptor protein in plant cells, which affects plant stress resistance by participating in the activities of a variety of signaling molecules. In this study, the key gene AaCaM3 for the Ca2+-CaM regulatory pathway was obtained from A. albus, the sequence analysis confirmed that it is a typical calmodulin. The qRT-PCR results demonstrated that with the passage of heat treatment time, the expression of AaCaM3 was significantly upregulated in A. albus leaves. Subcellular localization analysis revealed that AaCaM3 localized on the cytoplasm and nucleus. Meanwhile, heterologous transformation experiments have shown that AaCaM3 can significantly improve the heat tolerance of Arabidopsis under heat stress. The promoter region of AaCaM3 was sequenced 1,338 bp by FPNI-PCR and GUS staining assay showed that the promoter of AaCaM3 was a high-temperature inducible promoter. Yeast one-hybrid analysis and Luciferase activity reporting system analysis showed that the AaCaM3 promoter may interact with AaHSFA1, AaHSFA2c, AaHSP70, AaDREB2a and AaDREB2b. In conclusion, this study provides new ideas for further improving the signal transduction network of high-temperature stress in Amorphophallus.
Genome-wide identification, expression analysis of WRKY transcription factors in Citrus ichangensis and functional validation of CiWRKY31 in response to cold stress
Authors: Qu Jing , Xiao Peng , Zhao Ze-Qi , Wang Yi-Lei , Zeng Yi-Ke , Zeng Xi , Liu Ji-Hong
Published: June 2024

Background

Ichang papeda (Citrus ichangensis), a wild perennial plant of the Rutaceae family, is a cold-hardy plant. WRKY transcription factors are crucial regulators of plant growth and development as well as abiotic stress responses. However, the WRKY genes in C. ichangensis (CiWRKY) and their expression patterns under cold stress have not been thoroughly investigated, hindering our understanding of their role in cold tolerance.

Results

In this study, a total of 52 CiWRKY genes identified in the genome of C. ichangensis were classified into three main groups and five subgroups based on phylogenetic analysis. Comprehensive analyses of motif features, conserved domains, and gene structures were performed. Segmental duplication plays a significant role in the CiWRKY gene family expansion. Cis-acting element analysis revealed the presence of various stress-responsive elements in the promoters of the majority of CiWRKYs. Gene ontology (GO) analysis and protein-protein interaction predictions indicate that the CiWRKYs exhibit crucial roles in regulation of both development and stress response. Expression profiling analysis demonstrates that 14 CiWRKYs were substantially induced under cold stress. Virus-induced gene silencing (VIGS) assay confirmed that CiWRKY31, one of the cold-induced WRKYs, functions positively in regulation of cold tolerance.

Conclusion

Sequence and protein properties of CiWRKYs were systematically analyzed. Among the 52 CiWRKY genes 14 members exhibited cold-responsive expression patterns, and CiWRKY31 was verified to be a positive regulator of cold tolerance. These findings pave way for future investigations to understand the molecular functions of CiWRKYs in cold tolerance and contribute to unravelling WRKYs that may be used for engineering cold tolerance in citrus.
Pulmonary transit time is a predictor of outcomes in heart failure: a cardiovascular magnetic resonance first-pass perfusion study
Authors: Farley Jonathan , Brown Louise AE. , Garg Pankaj , Wahab Ali , Klassen Joel RL. , Jex Nicholas , Thirunavukarasu Sharmaine , Chowdhary Amrit , Sharrack Noor , Gorecka Miroslawa , Xue Hui , Artis Nigel , Levelt Eylem , Dall’Armellina Erica , Kellman Peter , Greenwood John P. , Plein Sven , Swoboda Peter P.
Published: June 2024

Background

Pulmonary transit time (PTT) can be measured automatically from arterial input function (AIF) images of dual sequence first-pass perfusion imaging. PTT has been validated against invasive cardiac catheterisation correlating with both cardiac output and left ventricular filling pressure (both important prognostic markers in heart failure). We hypothesized that prolonged PTT is associated with clinical outcomes in patients with heart failure.

Methods

We recruited outpatients with a recent diagnosis of non-ischaemic heart failure with left ventricular ejection fraction (LVEF) < 50% on referral echocardiogram. Patients were followed up by a review of medical records for major adverse cardiovascular events (MACE) defined as all-cause mortality, heart failure hospitalization, ventricular arrhythmia, stroke or myocardial infarction. PTT was measured automatically from low-resolution AIF dynamic series of both the LV and RV during rest perfusion imaging, and the PTT was measured as the time (in seconds) between the centroid of the left (LV) and right ventricle (RV) indicator dilution curves.

Results

Patients (N = 294) were followed-up for median 2.0 years during which 37 patients (12.6%) had at least one MACE event. On univariate Cox regression analysis there was a significant association between PTT and MACE (Hazard ratio (HR) 1.16, 95% confidence interval (CI) 1.08–1.25, P = 0.0001). There was also significant association between PTT and heart failure hospitalisation (HR 1.15, 95% CI 1.02–1.29, P = 0.02) and moderate correlation between PTT and N-terminal pro B-type natriuretic peptide (NT-proBNP, r = 0.51, P < 0.001). PTT remained predictive of MACE after adjustment for clinical and imaging factors but was no longer significant once adjusted for NT-proBNP.

Conclusions

PTT measured automatically during CMR perfusion imaging in patients with recent onset non-ischaemic heart failure is predictive of MACE and in particular heart failure hospitalisation. PTT derived in this way may be a non-invasive marker of haemodynamic congestion in heart failure and future studies are required to establish if prolonged PTT identifies those who may warrant closer follow-up or medicine optimisation to reduce the risk of future adverse events.
Enhancing physical function and activity level in malnourished older adults through oral nutrition supplements: a randomized controlled trial
Authors: Jayawardena Ranil , Weerasinghe Kalani , Gamage Manoja , Hills Andrew P.
Published: June 2024

Background

Malnutrition of older individuals, leads to significant functional decline, reducing their quality of life. Lifestyle interventions; dietary improvements and supplementation are explored to enhance the physical function of older adults. The current study aimed to assess the impact of oral nutritional supplements (ONS) on the functional and activity levels of Sri Lankan older adults.

Methods

This randomized controlled trial included; an intervention group (IG) receiving 200 mL of ONS providing 247 kcal per serving, for 12 weeks and a control group (CG) receiving an equivalent volume of water. Changes in handgrip strength, knee extension strength, gait speed, functional and activity levels were assessed.

Results

The IG showed significant improvements in handgrip strength (43.96 ± 18.61 kg vs. 32.81 ± 17.92 kg; p < 0.001) and knee extension strength (23.45 ± 2.29 kg vs. 16.41 ± 2.09 kg; p < 0.001) following 12 weeks compared to the CG. The IG also exhibited significant improvements in gait speed (1.31 ± 0.52 m/s vs. 0.87 ± 0.26 m/s), Barthel index score, (0.30 ± 0.47 vs. -0.18 ± 0.66), PASE score (0.52 ± 17.79 vs. -1.60 ± 21.77) and IPAQ categories.

Conclusions

ONS was found to be effective in improving the functional and physical activity levels of malnourished older adults.

Trial registration.

Sri Lanka Clinical Trial Registry SLCTR/2022/021. Registered on 06/10/2022.
Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy
Authors: Zhang Le , Fang Kechi , Ren Haitao , Fan Siyuan , Wang Jing , Guan Hongzhi
Published: June 2024

Background

Diagnosis and monitoring of leptomeningeal malignancy remain challenging, and are usually based on neurological, radiological, cerebrospinal fluid (CSF) and pathological findings. This study aimed to investigate the diagnostic performance of CSF metagenomic next-generation sequencing (mNGS) and chromosome copy number variations (CNVs) analysis in the detection of leptomeningeal malignancy.

Methods

Of the 51 patients included in the study, 34 patients were diagnosed with leptomeningeal malignancies, and 17 patients were diagnosed with central nervous system (CNS) inflammatory diseases. The Sayk’s spontaneous cell sedimentation technique was employed for CSF cytology. And a well-designed approach utilizing the CSF mNGS-CNVs technique was explored for early diagnosis of leptomeningeal malignancy.

Results

In the tumor group, 28 patients were positive for CSF cytology, and 24 patients were positive for CSF mNGS-CNVs. Sensitivity and specificity of CSF cytology were 82.35% (95% CI: 66.83-92.61%) and 94.12% (95% CI: 69.24-99.69%). In comparison, sensitivity and specificity of CSF mNGS-CNV were 70.59% (95% CI: 52.33-84.29%) and 100% (95% CI: 77.08-100%). There was no significant difference in diagnostic consistency between CSF cytology and mNGS-CNVs (p = 0.18, kappa = 0.650).

Conclusions

CSF mNGS-CNVs tend to have higher specificity compared with traditional cytology and can be used as a complementary diagnostic method for patients with leptomeningeal malignancies.
Construction and validation of a brain magnetic resonance imaging template for normal older Koreans
Authors: Lee Wheesung , Lee Subin , Park Yeseung , Kim Grace Eun , Bae Jong Bin , Han Ji Won , Kim Ki Woong
Published: June 2024

Background

Spatial normalization to a standardized brain template is a crucial step in magnetic resonance imaging (MRI) studies. Brain templates made from sufficient sample size have low brain variability, improving the accuracy of spatial normalization. Using population-specific template improves accuracy of spatial normalization because brain morphology varies according to ethnicity and age.

Methods

We constructed a brain template of normal Korean elderly (KNE200) using MRI scans 100 male and 100 female aged over 60 years old with normal cognition. We compared the deformation after spatial normalization of the KNE200 template to that of the KNE96, constructed from 96 cognitively normal elderly Koreans and to that of the brain template (OCF), constructed from 434 non-demented older Caucasians to examine the effect of sample size and ethnicity on the accuracy of brain template, respectively. We spatially normalized the MRI scans of elderly Koreans and quantified the amount of deformations associated with spatial normalization using the magnitude of displacement and volumetric changes of voxels.

Results

The KNE200 yielded significantly less displacement and volumetric change in the parahippocampal gyrus, medial and posterior orbital gyrus, fusiform gyrus, gyrus rectus, cerebellum and vermis than the KNE96. The KNE200 also yielded much less displacement in the cerebellum, vermis, hippocampus, parahippocampal gyrus and thalamus and much less volumetric change in the cerebellum, vermis, hippocampus and parahippocampal gyrus than the OCF.

Conclusion

KNE200 had the better accuracy than the KNE96 due to the larger sample size and was far accurate than the template constructed from elderly Caucasians in elderly Koreans.