bluuebunny/crossref_metadata_2025 huggingface dataset:
Success rates, challenges and troubleshooting of left bundle branch area pacing as a cardiac resynchronization therapy for treating patients with heart failure
Authors: Zhang Junmeng , Zhang Yimin , Sun Yaxun , Chen Mengna , Wang Zefeng , Ma Changsheng
Published: January 2023

Cardiac resynchronization therapy (CRT) is an important treatment of heart failure patients with reduced left ventricular ejection fraction (LVEF) and asynchrony of cardiac electromechanical activity. Left bundle branch area pacing (LBBaP) is a novel physiological pacing modality that appears to be an effective method for CRT. LBBaP has several advantages over the traditional biventricular-CRT (BiV-CRT), including a low and stable pacing capture threshold, a high success rate of implantation, a short learning curve, and high economic feasibility. However, LBBaP is not suitable for all heart failure patients needing a CRT and the success rates of LBBaP in heart failure patients is lower because of myocardial fibrosis, non-specific intraventricular conduction disturbance (IVCD), enlargement of the right atrium or right ventricle, etc. In this literature review, we summarize the success rates, challenges, and troubleshooting of LBBaP in heart failure patients needing a CRT.
4D-flow MRI derived wall shear stress for the risk stratification of bicuspid aortic valve aortopathy: A systematic review
Authors: Qin Jiaxing Jason , Obeidy Peyman , Gok Mustafa , Gholipour Alireza , Grieve Stuart M.
Published: January 2023

Purpose

Current intervention guidelines for bicuspid aortic valve (BAV) associated ascending aorta (AAo) dilatation are suboptimal predictors of clinical outcome. There is growing interest in identifying better biomarkers such as wall shear stress (WSS) to help risk stratify BAV aortopathy. The aim of the systematic review is to synthesize existing evidence of the relationship between WSS and aortopathy in the BAV population.

Methods

A comprehensive literature search of available major databases was performed in May 2022 to include studies that used four-dimensional flow cardiac magnetic resonance (4D-flow) MRI to quantify WSS in the AAo in adult BAV populations. Summary results and statistical analysis were provided for key numerical results. A narrative summary was provided to assess similarities between studies.

Results

A total of 26 studies that satisfied selection criteria and quality assessment were included in the review. The presence of BAV resulted in significantly elevated WSS magnitude and circumferential WSS, but not axial WSS. The presence of aortic stenosis had additional impact on WSS and flow alterations. BAV phenotypes were associated with different WSS distributions and flow profiles. Altered protein expression in the AAo wall associated with WSS supported the contribution of altered hemodynamics to aortopathy in addition to genetic factors.

Conclusion

WSS has the potential to be a valid biomarker for BAV aortopathy. Future work would benefit from larger study cohorts with longitudinal evaluations to further characterize WSS association with aortopathy, mortality, and morbidities.

Systematic review registration

https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022337077, identifier CRD42022337077.
SMS-based digital health intervention in Rwanda's home-based care program for remote management of COVID-19 cases and contacts: A qualitative study of sustainability and scalability
Authors: Babili Abdulaa , Nsanzimana Sabin , Rwagasore Edson , Lester Richard T.
Published: January 2023

Background

COVID-19 pandemic resulted in unprecedented global health challenges. Rwanda identified its first COVID-19 case on March 14, 2020 and subsequently introduced Home-Base Care (HBC) Program in August 2020 following community transmission of the virus and to alleviate logistical and financial strain on the healthcare system. Cases and contacts eligible for HBC were remotely supported by WelTel, an SMS-based mHealth intervention that was successfully implemented before for HIV epidemic in Rwanda. Enrolled cases and contacts were supported and monitored dailyviatheir cell and/or mobile phones until they complete isolation/quarantine period. This study explored the rationale, perspectives, and experiences of key informants (KIs) during the implementation WelTel's mHealth tool for HBC in Rwanda.

Methods

Semi-structured one-on-one virtual interviews were conducted with KIs in this qualitative study. The KIs were classified into 2 major categories: (A) Senior staff including policymakers, directors, and senior managers; (B) Technical teams including case managers, and other staff supporting the implementation of WelTel (e.g., IT staff). Interviews were audio-recorded, transcribed, and analyzed in NVivo. Thematic analysis was conducted using a hybrid approach. A topic guide was developed using the Modified Consolidated Framework for Implementation Research and feedback from local stakeholders.

Results

7 KIs were interviewed. Five themes emerged following thematic analysis including: SMS-Based mHealth for Home-Isolation; Facilitators for Intervention Adoption; Barriers for Intervention Adoption; Infection prevention and control for Home-Isolation; and SMS-Based mHealth for Future Pandemics and Epidemics. Based on interviews, strong political commitment and advanced digital infrastructure were major facilitators for adopting WelTel for HBC. A major barrier to adopting WelTel was identified as technical-based issues. This was followed by local communication culture. All participates agreed on the significance of using WelTel to improve access and adherence to infection prevention and control measures, understand transmission dynamics, and inform public health decision-making regarding HBC.

Conclusions

Rwanda successfully adopted WelTel for supporting and monitoring COVID-19 cases and contacts in home-isolation and the implementation was instrumental to the country's effort to manage the pandemic. Experiences and perspectives of cases and contacts enrolled into WelTel must be explored to understand the appropriateness and effectiveness of the intervention.
Applications of regenerative techniques in adult orthodontics
Authors: Liu Catherine , Sharpe Paul , Volponi Ana Angelova
Published: January 2023

Management of the growing adult orthodontic patient population must contend with challenges particular to orthodontic treatment in adults. These include a limited rate of tooth movement, increased incidence of periodontal complications, higher risk of iatrogenic root resorption and pulp devitalisation, resorbed edentulous ridges, and lack of growth potential. The field of regenerative dentistry has evolved numerous methods of manipulating cellular and molecular processes to rebuild functional oral and dental tissues, and research continues to advance our understanding of stem cells, signalling factors that stimulate repair and extracellular scaffold interactions for the purposes of tissue engineering. We discuss recent findings in the literature to synthesise our understanding of current and prospective approaches based on biological repair that has the potential to improve orthodontic treatment outcomes in adult patients. Methods such as mesenchymal stem cell transplantation, biomimetic scaffold manipulation, and growth factor control may be employed to overcome the challenges described above, thereby reducing adverse sequelae and improving orthodontic treatment outcomes in adult patients. The overarching goal of such research is to eventually translate these regenerative techniques into clinical practice, and establish a new gold standard of safe, effective, autologous therapies.
Layout timing of mining roadways considering goaf and roof stability
Authors: Yuan Fang , Tang Jianxin , Kong Lingrui , Li Cheng
Published: January 2023

Reasonable roadway layout timing can effectively reduce the deformation of the rock surrounding the roadway and relieve mining and excavation tension. To analyze the mine pressure behavior of the gob-side entry at the edge of a goaf and the roof stability along the strike direction in the middle of a goaf, field observations and particle flow discrete element numerical simulation (PFC) method were performed. The results showed that deformation of the surrounding rock mainly occurred because of roof-to-floor convergence, caused mainly by floor heave. The mechanical behaviors of the rock mass, such as elasticity, fracture, and post-peak softening, could be simulated using the model of a jointed rock mass generated by rigid block elements in the PFC method. Considering the length of the violent and reduced roof activity zones and the activity duration as the indices to determine the basic stability of the goaf, the basic stability distance of the tested goaf edge was 135 m after coal seam mining, and the basic stability time was 27 days. The basic stable distance in the middle of the goaf was 183.4 m after coal seam mining, and the basic stability time was 37 days.
Theoretical study on longitudinal deformation of adjacent tunnel subjected to pre-dewatering based on Pasternak-Timoshenko beam model
Authors: Yang Sun , Yao Rong , Junping Yu , Liqing Zhu , Haibin Ding , Lihong Tong
Published: January 2023

In this research, under the disturbance of pre-dewatering, the analytical solution of vertical displacement of the adjacent tunnel is derived using the two-stage analysis method. In the first stage, the effective stress principle was used to calculate the additional stress of the adjacent tunnel caused by dewatering. In the second stage, the Pasternak-Timoshenko beam model was used to simulate the interaction between the tunnel and soil, taking the tunnel shear deformation into account. By referring to the calculation results of existing literature, the correctness of the proposed method is verified, and the influencing factors of the longitudinal displacement of the tunnel are further analyzed. The results show that with the increase of the distance from the dewatering well and soil elastic modulus, the vertical displacement of the tunnel is reduced. The deformation of the existing tunnel increases with the permeability coefficient. The decrease of the tunnel shear modulus can lead to the rapid increase of the tunnel’s vertical displacement, so the shear stiffness should be considered in the analysis of its deformation. The increase in the dropping amplitude of the water level in the well will decrease the water level in the surrounding strata. According to the different relative positions of the tunnel and the water table, there are two forms of additional load on the tunnel. Before the water level drops to the tunnel axis, the tunnel’s Additional load and displacement gradually increase.
Enhancing classification of preterm-term birth using continuous wavelet transform and entropy-based methods of electrohysterogram signals
Authors: Romero-Morales Héctor , Muñoz-Montes de Oca Jenny Noemí , Mora-Martínez Rodrigo , Mina-Paz Yecid , Reyes-Lagos José Javier
Published: January 2023

Introduction

Despite vast research, premature birth's electrophysiological mechanisms are not fully understood. Prediction of preterm birth contributes to child survival by providing timely and skilled care to both mother and child. Electrohysterography is an affordable, noninvasive technique that has been highly sensitive in diagnosing preterm labor. This study aimed to choose the more appropriate combination of characteristics, such as electrode channel and bandwidth, as well as those linear, time-frequency, and nonlinear features of the electrohysterogram (EHG) for predicting preterm birth using classifiers.

Methods

We analyzed two open-access datasets of 30 minutes of EHG obtained in regular checkups of women around 31 weeks of pregnancy who experienced premature labor (P) and term labor (T). The current approach filtered the raw EHGs in three relevant frequency subbands (0.3–1 Hz, 1–2 Hz, and 2–3Hz). The EHG time series were then segmented to create 120-second windows, from which individual characteristics were calculated. The linear, time-frequency, and nonlinear indices of EHG of each combination (channel-filter) were fed to different classifiers using feature selection techniques.

Results

The best performance, i.e., 88.52% accuracy, 83.83% sensitivity, and 93.22% specificity, was obtained in the 2–3 Hz bands using Medium Frequency, Continuous Wavelet Transform (CWT), and entropy-based indices. Interestingly, CWT features were significantly different in all filter-channel combinations. The proposed study uses small samples of EHG signals to diagnose preterm birth accurately, showing their potential application in the clinical environment.

Discussion

Our results suggest that CWT and novel entropy-based features of EHG could be suitable descriptors for analyzing and understanding the complex nature of preterm labor mechanisms.
A rare case of multiple paragangliomas in the head and neck, retroperitoneum and duodenum: A case report and review of the literature
Authors: Kawanabe Shin , Katabami Takuyuki , Oshima Ryuichi , Yanagisawa Nobuyuki , Sone Masakatsu , Kimura Noriko
Published: January 2023

Pheochromocytomas and paragangliomas (PGLs) are rare non-epithelial neuroendocrine neoplasms of the adrenal medulla and extra-adrenal paraganglia respectively. Duodenal PGL is quite rare and there are only two previous reports. Herein, we report a case of multiple catecholamines (CAs)-producing PGLs in the middle ear, retroperitoneum, and duodenum, and review the literature of duodenal PGLs. A 40-year-old man complained right-ear hearing loss, and an intracranial tumor was suspected. Magnetic resonance imaging of the head revealed a 3-cm mass at the right transvenous foramen, which was surgically resected following preoperative embolization. The pathological diagnosis was a sympathetic PGL of the right middle ear. Six years later, family history of PGL with germline mutation of succinate dehydrogenase complex iron sulfur subunit B, SDHB: c.268C>T (p.Arg90Ter) was clarified. The patient had elevated levels of plasma and urine CAs again. Abdominal computed tomography scanning revealed two retroperitoneal tumors measuring 30-mm at the anterior left renal vein and 13-mm at near the ligament of Treitz. The larger tumor was laparoscopically resected, but the smaller tumor was not identified by laparoscopy. After the operation, the patient remained hypertensive, and additional imaging tests suggested a tumor localized in the duodenum. The surgically resected tumor was confirmed to be a duodenal PGL. After that, the patient remained hypertension free, and urinary levels of noradrenaline and normetanephrine decreased to normal values. No recurrence or metastasis has been found at 1 year after the second operation. CAs secretion from PGLs in unexpected location, like the duodenum of our patient, may be overlooked and leads to a hypertensive crisis. In such cases, comprehensive evaluation including genetic testing, fluorodeoxyglucose-positron emission tomography scanning, and measurement of CAs will be useful for detecting PGLs. Most previous reports on duodenal PGL were gangliocytic PGL which has been renamed composite gangliocytoma/neuroma and neuroendocrine tumor, and defined the different tumor from duodenal PGL. We reviewed and discussed duodenal PGLs in addition to multiple PGLs associated with SDHB mutation.
Ghrelin, not corticosterone, is associated with transitioning of phenotypic states in a migratory Galliform
Authors: Marasco Valeria , Kaiya Hiroyuki , Pola Gianni , Fusani Leonida
Published: January 2023

In both captive and free-living birds, the emergence of the migratory phenotype is signalled by rapid and marked increases in food intake and fuelling, as well as changes in amount of nocturnality or migratory restlessness. The metabolic hormone corticosterone and, as more recently suggested, the gut-derived hormone ghrelin have been suggested to play a role in mediating such phenomenal phenotypic flexibility given that they both regulate fuel metabolism and locomotion across vertebrate taxa. Here, using the Common quail (Coturnix coturnix) as our study species, we induced autumn migration followed by a non-migratory wintering phase through controlled changes in daylight. We thus compared plasma corticosterone and ghrelin concentrations between the two sampling phases and assessed whether these hormones might reflect the migratory state. While we found no differences in plasma corticosterone between the two sampling phases and no link of this hormone with changes in body mass, levels of food intake or migratory restlessness, the migratory birds had substantially higher levels of plasma ghrelin relative to the non-migratory birds. Furthermore, while ghrelin did not correlate with the gain in body mass over the entire pre-migratory fuelling phase (over an average of nine weeks preceding blood sampling), plasma ghrelin did positively correlate with the gain in body mass observed during the final fattening stages (over an average of three weeks preceding blood sampling). Again, variation in plasma ghrelin also reflected the amount of body mass depleted over both the long- and short-time frame as birds returned to their non-migratory baseline - lower levels of plasma ghrelin consistently correlated with larger losses in body mass. Thus, while our data do not highlight a role of the hormone corticosterone in sustaining pre-migratory fattening as shown in other bird species, they do add evidence for a potential role of ghrelin in mediating migratory behaviour and further suggest that this hormone might be important in regulating the transitioning of migratory states, possibly by promoting fuel mobilisation and usage.
A mixed-method evaluation of the relationship between Oxford classification scores and longitudinal changes in proteinuria in patients with immunoglobulin A nephropathy
Authors: Xu Ri-Cong , Guo Jian-Ying , Cao Tao , Xu Yi , Liao Ying , Chen Yu-Na , Song Hai-Ying , Chen Xiao-Jie , Guan Mi-Jie , Tang Fei , Xiang Qiong , Chen Xing-Lin , Wan Qi-Jun
Published: January 2023

Introduction

This study aimed to investigate the relationship between Oxford Classification scores and longitudinal changes in proteinuria in patients with immunoglobulin A nephropathy (IgAN).

Methods

The study was a single-center retrospective cohort study involving 358 patients with primary IgAN who were treated at the Shenzhen Second People’s Hospital, China, between January 2011 and May 2021. Multivariate linear regression and generalized additive mixed models (GAMMs), adjusted for traditional risk confounders, were used to evaluate the correlation between scores for mesangial hypercellularity (M), endocapillary hypercellularity (E), segmental glomerulosclerosis (S), tubular atrophy/interstitial fibrosis (T), and crescents (C) (known as the Oxford Classification MEST-C score system), with proteinuria/creatinine ratio (PCR) at the time of renal biopsy and longitudinal changes in PCR, respectively.

Results

The median PCR was 1061 mg/g, and it increased on average by 68.82 mg/g per year in these patients. Among patients with renal insufficiency, compared with patients without relative lesions, those with E present (E1) (1153.44; 95% confidence interval [CI], 188.99–2117.89 mg/g) and C > 0 (C1/2) (1063.58; 95% CI, 185.25–1941.90 mg/g) were associated with increased PCR levels at the time of renal biopsy. What’s more, S present (S1) (194.96; 95% CI, 54.50–335.43 mg/g per year) was associated with the fastest PCR increase; C > 0 (C1/2) (147.59; 95% CI, 8.32–286.86 mg/g per year) and T >25% (T1/2) (77.04; 95% CI, 7.18–146.89 mg/g per year), were also correlated with a faster PCR increase. In patients with normal kidney function, associations between S1 (55.46; 95% CI, 8.93–101.99 mg/g per year) and E1 (94.02; 95% CI, 21.47–166.58 mg/g per year) and PCR change could be observed. Additionally, in patients with overweight/obesity, S1 (156.09; 95% CI, 52.41–259.77 mg/g per year), E1 (143.34; 95% CI, 35.30–251.38 mg/g per year), T1/2 (116.04; 95% CI, 22.58–209.51 mg/g per year), as well as C1/2 (134.03; 95% CI, 41.73–226.32 mg/g per year) were associated with noticeably quicker PCR increase.

Conclusions

Overall, E1 and C1/2 were independently associated with raised proteinuria levels at the time of renal biopsy, and S1, E1, T1/2, C1/2 were independently associated with a longitudinal increase in proteinuria in the patients with IgAN, especially in those with renal insufficiency or overweight/obesity, suggesting that currently available treatments might not be satisfactory, and weight control might be beneficial. Individual therapy development might benefit from the use of the Oxford Classification system.
Research on the state of health estimation of lithium-ion batteries for energy storage based on XGB-AKF method
Authors: Xu Song , Zha Fang-Lin , Huang Bo-Wen , Yu Bing , Huang Hai-Bo , Zhou Ting , Mao Wen-Qi , Wu Jie-Jun , Wei Jia-Qiang , Gong Shang-Kun , Wan Tao , Duan Xin-Yu , Xiong Shang-Feng
Published: January 2023

With the advantages of high energy density, long cycle life and high stability, lithium-ion batteries have been used in a large number of fields such as electric vehicles and grid scale energy storage. To ensure the safe and reliable operation of battery systems, it is important to make an accurate and rapid estimation of the state of health (SOH) of Li-ion cells. A Li-ion cell is a complex nonlinear dynamic system. The SOH of a Li-ion can not be measured directly in actual working conditions; it can only be estimated indirectly by external characteristic parameters that reflects the extent of cell aging. It is difficult to ensure the reliability of method based on a single aging feature or model. Therefore, this paper proposes a multi-feature SOH estimation method that combines data-driven XGBoost and a Kalman filter. Firstly, a principal component analysis algorithm to reconstruct multiple battery aging features based on data is used, and an XGBoost online estimation model incorporating multiple features based on the reconstructed feature data is constructed. Finally, the joint optimal estimation of SOH of Li-ion cells by introducing a time-domain Kalman filter based on the real-time correction of the XGBoost model is achieved in this method. The results show that the method improves the accuracy and robustness of the estimation model and achieves a high-precision joint estimation of SOH for Li-ion cells.
Enhancement of water quality index prediction using support vector machine with sensitivity analysis
Authors: Mamat Naeimah , Mohd Razali Siti Fatin , Hamzah Fatimah Bibi
Published: January 2023

For more than 25 years, the Department of Environment (DOE) of Malaysia has implemented a water quality index (WQI) that uses six key water quality parameters: dissolved oxygen (DO), biochemical oxygen demand (BOD), chemical oxygen demand (COD), pH, ammoniacal nitrogen (AN), and suspended solids (SS). Water quality analysis is an essential component of water resources management that must be properly managed to prevent ecological damage from pollution and to ensure compliance with environmental regulations. This increases the need to define an efficient method for WQI analysis. One of the major challenges with the current calculation of the WQI is that it requires a series of sub-index calculations that are time consuming, complex, and prone to error. In addition, the WQI cannot be calculated if one or more water quality parameters are missing. In this study, the optimization method of WQI was developed to address the complexity of the current process. The potential of data-driven modeling, i.e., Support Vector Machine (SVM) based on Nu-Radial basis function with 10-fold cross-validation, was developed and explored to improve the prediction of WQI in Langat watershed. A thorough sensitivity analysis under six scenarios was also conducted to determine the efficiency of the model in WQI prediction. In the first scenario, the model SVM-WQI showed exceptional ability to replicate the DOE-WQI and obtained statistical results at a very high level (correlation coefficient, r > 0.95, Nash Sutcliffe efficiency, NSE >0.88, Willmott’s index of agreement, WI > 0.96). In the second scenario, the modeling process showed that the WQI can be estimated without any of the six parameters. It can be seen that the parameter DO is the most important factor in determining the WQI. The pH is the factor that affects the WQI the least. Moreover, scenarios three to six show the efficiency of the model in terms of time and cost by minimizing the number of variables in the input combination of the model (r > 0.6, NSE >0.5 (good), WI > 0.7 (very good)). In summary, the model will greatly improve and accelerate data-driven decision making in water quality management by making data more accessible and attractive without human intervention.
Supply-driven evolution: Mutation bias and trait-fitness distributions can drive macro-evolutionary dynamics
Authors: Xue Zhun Ping , Chindelevitch Leonid , Guichard Frédéric
Published: January 2023

Many well-documented macro-evolutionary phenomena still challenge current evolutionary theory. Examples include long-term evolutionary trends, major transitions in evolution, conservation of certain biological features such ashoxgenes, and the episodic creation of new taxa. Here, we present a framework that may explain these phenomena. We do so by introducing a probabilistic relationship between trait value and reproductive fitness. This integration allows mutation bias to become a robust driver of long-term evolutionary trends against environmental bias, in a way that is consistent with all current evolutionary theories. In cases where mutation bias is strong, such as when detrimental mutations are more common than beneficial mutations, a regime called “supply-driven” evolution can arise. This regime can explain the irreversible persistence of higher structural hierarchies, which happens in the major transitions in evolution. We further generalize this result in the long-term dynamics of phenotype spaces. We show how mutations that open new phenotype spaces can become frozen in time. At the same time, new possibilities may be observed as a burst in the creation of new taxa.
Nathusius’ bats, Pipistrellus nathusii, bypass mating opportunities of their own species, but respond to foraging heterospecifics on migratory transit flights
Authors: Marggraf Lara C. , Lindecke Oliver , Voigt Christian C. , Pētersons Gunārs , Voigt-Heucke Silke L.
Published: January 2023

In late summer, migratory bats of the temperate zone face the challenge of accomplishing two energy-demanding tasks almost at the same time: migration and mating. Both require information and involve search efforts, such as localizing prey or finding potential mates. In non-migrating bat species, playback studies showed that listening to vocalizations of other bats, both con-and heterospecifics, may help a recipient bat to find foraging patches and mating sites. However, we are still unaware of the degree to which migrating bats depend on con-or heterospecific vocalizations for identifying potential feeding or mating opportunities during nightly transit flights. Here, we investigated the vocal responses of Nathusius’ pipistrelle bats, Pipistrellus nathusii, to simulated feeding and courtship aggregations at a coastal migration corridor. We presented migrating bats either feeding buzzes or courtship calls of their own or a heterospecific migratory species, the common noctule, Nyctalus noctula. We expected that during migratory transit flights, simulated feeding opportunities would be particularly attractive to bats, as well as simulated mating opportunities which may indicate suitable roosts for a stopover. However, we found that when compared to the natural silence of both pre-and post-playback phases, bats called indifferently during the playback of conspecific feeding sounds, whereas P. nathusii echolocation call activity increased during simulated feeding of N. noctula. In contrast, the call activity of P. nathusii decreased during the playback of conspecific courtship calls, while no response could be detected when heterospecific call types were broadcasted. Our results suggest that while on migratory transits, P. nathusii circumnavigate conspecific mating aggregations, possibly to save time or to reduce the risks associated with social interactions where aggression due to territoriality might be expected. This avoidance behavior could be a result of optimization strategies by P. nathusii when performing long-distance migratory flights, and it could also explain the lack of a response to simulated conspecific feeding. However, the observed increase of activity in response to simulated feeding of N. noctula, suggests that P. nathusii individuals may be eavesdropping on other aerial hawking insectivorous species during migration, especially if these occupy a slightly different foraging niche.
Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
Authors: Tong Xinyun , Li Yang , Tang Xianfa , Ding Yantao , Sun Yao , Zheng Liyun , Pan Yulong , Liu Shengxiu
Published: January 2023

Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history. Here, we report a case of a 6-month-old infant and make the diagnosis of IPP by a series of examinations; subsequently, by detecting coexistent mutations of IL36RN and CARD14, the diagnosis is intensified from a genetic point of view. We treated the child with traditional oral and topical drugs regardless of the commonly used acitretin considering its potential side effects, such as skeletal toxicity, and the lesions got conspicuous improvement with much reduction of inflammation. Owing to the genetic mutation of IL-36, there had been reported cases focusing on anti-IL36 biological agents in the treatment of IPP, and it could be a new weapon to treat and improve such IL-36RN-deficient skin diseases.
Comparative transcriptomics in alternate bearing cultivar Dashehari reveals the genetic model of flowering in mango
Authors: Kaur Harmanpreet , Sidhu Gurupkar Singh , Mittal Amandeep , Yadav Inderjit Singh , Mittal Meenakshi , Singla Deepak , Singh Navprem , Chhuneja Parveen
Published: January 2023

Flowering is a complex developmental process, with physiological and morphological phases influenced by a variety of external and internal factors. Interestingly, many mango cultivars tend to bear fruit biennially because of irregular flowering, and this has a negative impact on mango flowering and the subsequent yield, resulting in significant economic losses. In this article, transcriptome analysis was carried out on four tissues of mango cv. Dashehari (bearing tree leaf, shoot apex, inflorescence, and non-bearing tree leaf). De novo transcriptome assembly of RNA-seq reads of Dashehari using the Trinity pipeline generated 67,915 transcripts, with 25,776 genes identified. 85 flowering genes, represented by 179 transcripts, were differentially expressed in bearing vs. non-bearing leaf tissues. Gene set enrichment analysis of flowering genes identified significant upregulation of flowering related genes in inflorescence tissues compared to bearing leaf tissues. The flowering genes FT, CO, GI, ELF 4, FLD, FCA, AP1, LHY, and SCO1 were upregulated in the bearing leaf tissues. Pathway analysis of DEGs showed significant upregulation of phenylpropanoid and sucrose and starch pathways in non-bearing leaf tissue compared with bearing leaf tissue. The comparative transcriptome analysis performed in this study significantly increases the understanding of the molecular mechanisms driving the flowering process as well as alternative bearing in mango.
Machine learning in the estimation of CRISPR-Cas9 cleavage sites for plant system
Authors: Das Jutan , Kumar Sanjeev , Mishra Dwijesh Chandra , Chaturvedi Krishna Kumar , Paul Ranjit Kumar , Kairi Amit
Published: January 2023

CRISPR-Cas9 system is one of the recent most used genome editing techniques. Despite having a high capacity to alter the precise target genes and genomic regions that the planned guide RNA (or sgRNA) complements, the off-target effect still exists. But there are already machine learning algorithms for people, animals, and a few plant species. In this paper, an effort has been made to create models based on three machine learning-based techniques [namely, artificial neural networks (ANN), support vector machines (SVM), and random forests (RF)] for the prediction of the CRISPR-Cas9 cleavage sites that will be cleaved by a particular sgRNA. The plant dataset was the sole source of inspiration for all of these machine learning-based algorithms. 70% of the on-target and off-target dataset of various plant species that was gathered was used to train the models. The remaining 30% of the data set was used to evaluate the model’s performance using a variety of evaluation metrics, including specificity, sensitivity, accuracy, precision, F1 score, F2 score, and AUC. Based on the aforementioned machine learning techniques, eleven models in all were developed. Comparative analysis of these produced models suggests that the model based on the random forest technique performs better. The accuracy of the Random Forest model is 96.27%, while the AUC value was found to be 99.21%. The SVM-Linear, SVM-Polynomial, SVM-Gaussian, and SVM-Sigmoid models were trained, making a total of six ANN-based models (ANN1-Logistic, ANN1-Tanh, ANN1-ReLU, ANN2-Logistic, ANN2-Tanh, and ANN-ReLU) and Support Vector Machine models (SVM-Linear, SVM-Polynomial, SVM-Gaussian However, the overall performance of Random Forest is better among all other ML techniques. ANN1-ReLU and SVM-Linear model performance were shown to be better among Artificial Neural Network and Support Vector Machine-based models, respectively.
A five-pseudouridylation-associated-LncRNA classifier for primary prostate cancer prognosis prediction
Authors: Zheng Pengxiang , Long Zining , Gao Anding , Lu Jianming , Wang Shuo , Zhong Chuanfan , Lai Houhua , Guo Yufei , Wang Ke , Fang Chen , Mao Xiangming
Published: January 2023

Background: Prostate cancer (PCa) is one of the most common cancers in males around the globe, and about one-third of patients with localized PCa will experience biochemical recurrence (BCR) after radical prostatectomy or radiation therapy. Reportedly, a proportion of patients with BCR had a poor prognosis. Cumulative studies have shown that RNA modifications participate in the cancer-related transcriptome, but the role of pseudouridylation occurring in lncRNAs in PCa remains opaque.

Methods: Spearman correlation analysis and univariate Cox regression were utilized to determine pseudouridylation-related lncRNAs with prognostic value in PCa. Prognostic pseudouridylation-related lncRNAs were included in the LASSO (least absolute shrinkage and selection operator) regression algorithm to develop a predictive model. KM (Kaplan-Meier) survival analysis and ROC (receiver operating characteristic) curves were applied to validate the constructed model. A battery of biological cell assays was conducted to confirm the cancer-promoting effects of RP11-468E2.5 in the model.

Results: A classifier containing five pseudouridine-related lncRNAs was developed to stratify PCa patients on BCR and named the “ψ-lnc score.” KM survival analysis showed patients in the high ψ-lnc score group experienced BCR more than those in the low ψ-lnc score group. ROC curves demonstrated that ψ-lnc score outperformed other clinical indicators in BCR prediction. An external dataset, GSE54460, was utilized to validate the predictive model’s efficacy and authenticity. A ceRNA (competitive endogenous RNA) network was constructed to explore the model’s potential molecular functions and was annotated through GO (Gene Ontology) and KEGG (Kyoto Encyclopedia of Genes and Genomes) pathway analyses. RP11-468E2.5 was picked for further investigation, including pan-cancer analysis and experimental validation. Preliminarily, RP11-468E2.5 was confirmed as a tumor promoter.

Conclusion: We provide some evidence that pseudouridylation in lncRNA played a role in the development of PCa and propose a novel prognostic classifier for clinical practice.
Perioperative corticosteroid treatment impairs tumor-infiltrating dendritic cells in patients with newly diagnosed adult-type diffuse gliomas
Authors: Carenza Claudia , Franzese Sara , Castagna Alessandra , Terzoli Sara , Simonelli Matteo , Persico Pasquale , Bello Lorenzo , Nibali Marco Conti , Pessina Federico , Kunderfranco Paolo , Peano Clelia , Balin Simone , Mikulak Joanna , Calcaterra Francesca , Bonecchi Raffaella , Savino Benedetta , Locati Massimo , Della Bella Silvia , Mavilio Domenico
Published: January 2023

Introduction

Adult-type diffuse gliomas are malignant primary brain tumors characterized by very poor prognosis. Dendritic cells (DCs) are key in priming antitumor effector functions in cancer, but their role in gliomas remains poorly understood.

Methods

In this study, we characterized tumor-infiltrating DCs (TIDCs) in adult patients with newly diagnosed diffuse gliomas by using multi-parametric flow cytometry and single-cell RNA sequencing.

Results

We demonstrated that different subsets of DCs are present in the glioma microenvironment, whereas they are absent in cancer-free brain parenchyma. The largest cluster of TIDCs was characterized by a transcriptomic profile suggestive of severe functional impairment. Patients undergoing perioperative corticosteroid treatment showed a significant reduction of conventional DC1s, the DC subset with key functions in antitumor immunity. They also showed phenotypic and transcriptional evidence of a more severe functional impairment of TIDCs.

Discussion

Overall, the results of this study indicate that functionally impaired DCs are recruited in the glioma microenvironment. They are severely affected by dexamethasone administration, suggesting that the detrimental effects of corticosteroids on DCs may represent one of the mechanisms contributing to the already reported negative prognostic impact of steroids on glioma patient survival.
Effect of hybrid-fiber- reinforcement on the shear behavior of high-strength-concrete beams
Authors: Awad Ahmed , Tawfik Maged , Deifalla A. , Ahmad Mahmood , Sabri Sabri Mohanad Muayad , El-said Amr
Published: January 2023

The shear behavior of concrete beams is highly affected by the implementation of better performance concrete. Hybrid fibers addition to concrete mixture has proven to improve the performance compared to just using single type of fiber. Thus, in this current study, the shear behavior of hybrid-fiber-reinforced-high-strength-concrete beams was investigated experimentally. In addition, the effect of the span-to-depth ratio and the transverse reinforcement ratio were examined. Results showed that, when .45% of the cement weight is replaced with polypropylene fiber and 7% of the cement weight is replaced with steel fibers, the shear strength of the beam was enhanced by 18% in comparison to the control beam. The Formation and progression of cracks were also better controlled. The behavior of hybrid-polypropylene-steel-fibers-high-strength-concrete beams was observed to be comparable to that of conventional concrete ones as the shear strength increased with the decrease in span to depth ratio or the increase in transverse reinforcing ratio. A non-linear numerical model was developed and validated using the experimental results. The shear capacities of beams were calculated using ACI, which was compared to experimental and numerical results. The ACI’s calculations were conservative when compared with the experimental or numerical results. The coefficient of variance between the ACI and experimental shear capacity results was 4.8%, while it was 9.2% between the ACI and numerical shear capacity results.
Simulation study on the size effect of joint roughness on bulk modulus
Authors: Liang Wenxu , Li Yu , Wang Jie , Hu Gaojian , Fu Wei , Sun Lei
Published: January 2023

The bulk modulus reflects the deformation of rock macroscopically and plays a vital role in geological exploration, oilfield development, and drilling. The bulk modulus not only changes under different rock sizes, but also varies with joint roughness. Therefore, it is very important to accurately estimate the bulk modulus of rough jointed rock and evaluate its deformation. In this paper, the influence of joint roughness and rock size on bulk modulus was discussed by regression analysis of 25 sets of simulation models. The research shows that with the increase of rock size, the bulk modulus decreases exponentially, and with the rise of joint roughness, the bulk modulus increases as a power function. With the rise of joint roughness, the characteristic size of bulk modulus increases exponentially, and the characteristic bulk modulus increases as a power function. The paper gives the specific forms of these relations.
Optimization of heat treatment program and effect of heat treatment on microstructure and flexural strength of micro-nano-Li2Si2O5 whisker-reinforced glass-ceramics
Authors: He Wenli , Yao Chengliang , Zhao Zihan , Rong Cunren , Zhang Yanjie , Li Bing , Wu Xiuping
Published: January 2023

Lithium disilicate (Li2Si2O5, referred as LD) glass ceramics with unique aesthetic properties are ideal dental restorative materials. However, their applications are limited due to the lower flexural strength than polycrystalline ceramics. Herein, micro-nano-LD whiskers were utilized to facilitate the formation of crystallization sites and further growth of crystals in SiO2-Li2O glasses during the heat treatment process. Meanwhile, an orthogonal experiment with four-factor three-level was designed, and the optimum heat treatment conditions for preparing LD glass-ceramics with excellent flexural strength were found. The order of influencing extent of heat treatment conditions is crystallization temperature > crystallization time > nucleation temperature > nucleation time. In addition, the crystallization behavior, phase formation, microstructure and flexural strength of glass were measured at different heat treatment temperatures. Remarkably, the optimal LD glass-ceramics sample has a strong flexural strength at 342 MPa, in which plentiful crystal grains with uniform and dense distribution are observed. These results indicate that micro-nano-LD whisker-reinforced glass-ceramics obtained by optimized heat treatment program offer a potential candidate for dental applications.
Retinal microvasculature observations of fellow eyes after intra-arterial chemotherapy for unilateral retinoblastoma using optical coherence tomography angiography
Authors: Chen Yijing , Mao Jianbo , Xiang Ziyi , Zhang Zhengxi , Zhang Shian , Wu Sulan , Shen Lijun
Published: January 2023

Purpose

To investigate the characteristics of the retinal microvasculature of the fellow eyes in patients with unilateral retinoblastoma (RB) after intra-arterial chemotherapy (IAC) through optical coherence tomography angiography.

Methods

This retrospective study enrolled 11 fellow eyes of patients with unilateral RB receiving IAC (group I), nine fellow eyes of patients with unilateral RB receiving IAC and intravenous chemotherapy (IVC) (group II), and 14 age-matched normal eyes (control group). Optical coherence tomography angiography was performed on all individuals. Vascular density of superficial capillary plexus and deep capillary plexus (DCP), foveal avascular zone related parameters, and retinal thickness were measured and compared among the three groups.

Results

There was no statistical difference in age and logMAR visual acuity among the three groups. Compared with the control group, the vascular density of the DCP was lower in group I and II. Decreased vascular density of FD-300 and thinner thickness of outer plexus layer to Bruch’s membrane were detected in group II compared with the control group. The vascular density and retinal thickness showed no differences between group I and II.

Conclusion

The decreased vascular density in the DCP without measurable visual impairment was observed in fellow eyes after IAC or IAC + IVC for unilateral RB. Further studies with a larger sample would be necessary to determine the clinical significance of these findings.
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood
Authors: Brunerova Ludmila , Remes Ondrej , Zoubkova Veronika , Votypka Pavel
Published: January 2023

Background and aims

Vitamin D 24-hydroxylase is an enzyme encoded by the CYP24A1 gene, which inhibits the activation of vitamin D to form inactive metabolites. More than 20 currently described pathogenic variants (usually biallelic) of this gene are responsible for idiopathic infantile hypercalcemia manifested typically in childhood (often in newborns) with hypercalcemia, hypercalciuria, and nephrocalcinosis. However, a few patients (mostly with monoallelic heterozygous pathogenic variants) can develop mild symptoms in adulthood.

Case description

We present the case of a 43-year-old male patient with hypertension and heterozygous Leiden mutation, with mural thrombi in the common iliac artery, who was sent by a nephrologist to endocrinological examination due to hypoparathyroidism, progressive hypercalcemia, hypercalciuria, and CKDG2A1. Complete laboratory and imaging methods (including PET-CT) excluded PTH-related peptide-mediated hypercalcemia and granulomatosis. Finally, the genetic analysis of the CYP24A1 gene revealed the presence of a novel combination of two heterozygous pathogenic variants: CYP24A1: c. 443T>C p.(Leu148Pro) and c.1186C>T p.(Arg396Trp).

Conclusion

Differential diagnosis of patients with hypercalciuria, nephrocalcinosis, and hypercalcemia related to vitamin D exposure should include the CYP24A1 gene mutation. To the best of our knowledge, this is the first case of the novel combination of two heterozygous pathogenic variants of CYP24A1.
Reliability and reproducibility of antinuclear antibody testing in pediatric rheumatology practice
Authors: Ostrov Barbara E.
Published: January 2023

Antinuclear antibody (ANA) testing is common practice among health care practitioners when evaluating children and adolescents with non-specific symptoms including fatigue and aches and pains. When positive, ANA results often lead to referrals to pediatric rheumatologists as these antibodies may be key indicators for specific pediatric rheumatologic diagnoses. The reliability and reproducibility of ANA tests varies with assay techniques and validation and interpretation of results. In the following article, review of ANA testing in pediatrics is provided along with case examples that demonstrate the reliability and reproducibility of these results in specific scenarios common in the practice of pediatric rheumatology. Guidelines for more accurate utilization of ANA testing are presented with the aim to improve testing and interpretation by ordering clinicians.