bluuebunny/crossref_metadata_2025 huggingface dataset:
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
Authors: Yamamoto Keiko Shimojima , Nakahara Erina , Ogura Hiromi , Aoki Takako , Utsugisawa Taiju , Azuma Kenkou , Akagawa Hiroyuki , Watanabe Kenichiro , Muraoka Michiko , Nakamura Fumihiko , Kamei Michi , Tatebayashi Koji , Shinozuka Jun , Yamane Takahisa , Hibino Makoto , Katsura Yoshiya , Nakano-Akamatsu Sonoko , Kadowaki Norimitsu , Maru Yoshiro , Ito Etsuro , Ohga Shouichi , Yagasaki Hiroshi , Morioka Ichiro , Yamamoto Toshiyuki , Kanno Hitoshi
Published: September 2022

Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to the erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported. We analyzed the genomic background of 23 Japanese patients suspected DHSt using a target capture sequence and identified pathogenic/likely pathogenic variants of PIEZO1 or KCNN4 in 12 families.
Effects of regorafenib on the mononuclear/phagocyte system and how these contribute to the inhibition of colorectal tumors in mice
Authors: Grünewald Sylvia , Stecklum Maria , Rizzo Manuel , Rathjens Jonathan , Fiebig Lukas , Zopf Dieter
Published: September 2022

Background
Regorafenib was previously shown to reduce tumor-associated macrophages and potently inhibit colony-stimulating factor 1 receptor (CSF1R), also known as CD115, in biochemical assays. The CSF1R signaling pathway is essential in the biology of the mononuclear/phagocyte system, which itself can promote the development of cancer.
Methods
A deeper investigation of regorafenib’s effects on CSF1R signaling was performed using preclinical in vitro and in vivo studies with syngeneic CT26 and MC38 mouse models of colorectal cancer. Peripheral blood and tumor tissue were analyzed mechanistically by flow cytometry using antibodies against CD115/CSF1R and F4/80 and by ELISA for chemokine (C-C motif) ligand 2 (CCL2) levels. These read-outs were correlated with drug levels for the detection of pharmacokinetic/pharmacodynamic relationships.
Results
Potent inhibition of CSF1R by regorafenib and its metabolites M-2 and M-5 was confirmed in vitro in RAW264.7 macrophages. The dose-dependent growth inhibition of subcutaneous CT26 tumors by regorafenib was associated with a significant reduction in both the number of CD115hi monocytes in peripheral blood and the number of selective subpopulations of intratumoral F4/80hi tumor-associated macrophages. CCL2 levels in blood were not affected by regorafenib but increased in tumor tissue, which may contribute to drug resistance and prevent complete tumor remission. An inverse relationship between regorafenib concentration and the number of CD115hi monocytes and CCL2 levels was observed in peripheral blood, supporting the mechanistic involvement of regorafenib.
Conclusions
These findings may be clinically useful in optimizing drug dosing by blood-based pharmacodynamic markers, and in identifying resistance mechanisms and ways to overcome them by appropriate drug combinations.
Evaluating changes in hepatic microcirculation in mild and severe acute pancreatitis through dynamic volume perfusion computed tomography
Authors: Lan Xilin , Zhang Shiyong , Sun Qing , Zou Qing , Liu Ting , Deng Hongyi , Guo Kaichan , Yu Xi , Ming Bing
Published: September 2022

Objectives:
Based on one-stop upper abdominal dynamic volume perfusion computed tomography (dVPCT) data stacks, we reconstructed images from multiple contrast enhancement phases to determine the severity of acute pancreatitis (AP) and further evaluated hepatic perfusion in mild and severe AP through multiple perfusion parameters.
Methods:
We prospectively enrolled 77 patients from the database of upper abdominal dVPCT between July 2018 and April 2019, including 62 with AP, as well as 15 without pancreatic and hepatic disorders as the control group. All patients underwent dVPCT, and we reconstructed the mean temporal arterial, mean temporal pancreatic, and mean temporal portal venous images to evaluate the severity of AP according to the CT severity index. We further divided AP into mild and severe AP groups. A deconvolution algorithm was applied to calculate multiple hepatic perfusion parameters, including blood flow (BF), blood volume (BV), arterial liver perfusion (ALP), portal venous liver perfusion (PVP), mean transit time (MTT), hepatic perfusion index (HPI), and time to peak (TTP).
Results
The hepatic perfusion parameters BF, BV, PVP, MTT, HPI, and TTP differed significantly between the severe AP patients and control group. Only PVP and MTT were significantly different between the mild AP patients and the control group. The mild AP group had significantly higher BF, BV and MTT values but a significantly lower TTP than the severe AP group.
Conclusions
Hepatic perfusion differed according to the severity of AP. Severe AP shows altered hepatic haemodynamics and disturbances of the hepatic microcirculation.
Peaksat: An R package for ChIP-seq peak saturation analysis
Authors: Boyd Joseph , Gao Cong , Quinn Kathleen , Fritz Andrew , Stein Janet , Stein Gary , Glass Karen , Frietze Seth
Published: September 2022

Background: Epigenomic profiling assays such as ChIP-seq have been widely used to map the genome-wide enrichment profiles of chromatin-associated proteins and posttranslational histone modifications. Sequencing depth is a key parameter in experimental design and quality control. However, due to variable sequencing depth requirements across experimental conditions, it can be challenging to determine optimal sequencing depth, particularly for projects involving multiple targets or cell types.
Results: We developed the Peaksat R package to provide target read depth estimates for epigenomic experiments based on the analysis of peak saturation curves. We applied Peaksat to establish the distinctive read depth requirements for ChIP-seq studies of histone modifications in different cell lines. Using Peaksat, we were able to estimate the target read depth required per library to obtain high-quality peak calls for downstream analysis. In addition, Peaksat was applied to other sequence-enrichment methods including Cut&Run and ATAC-seq.
Conclusion: Peaksat addresses a need for researchers to make informed decisions about whether their sequencing data has been generated to an adequate depth and subsequently sufficient meaningful peaks, and failing that, how many more reads would be required per library. Peaksat is applicable to other sequence-based methods that include calling peaks in their analysis.
Data Science Technology Course: The Design, Assessment and Computing Environment Perspectives
Authors: Ismail Azlan , Mutalib Sofianita , Haron Haryani
Published: September 2022

This article discusses the key elements of the Data Science Technology course offered to postgraduate students enrolled in the Master of Data Science program. This course complements the existing curriculum by providing the skills to handle the Big Data platform and tools, in addition to data science activities. We tackle the discussion about this course based on three main requirements, which are related to the need to exploit the key skills from two dimensions, namely, Data Science and Big Data, and the need for a cluster-based computing platform and its accessibility. We address these requirements by presenting the course design and its assessments, the configuration of the computing platform, and the strategy to enable flexible accessibility. In terms of course design, the offered course contributes to several innovative elements and has covered multiple key areas of the data science body of knowledge and multiple quadrants of the job and skills matrix. In the case of the computing platform, a stable deployment of a Hadoop cluster with flexible accessibility, triggered by the pandemic situation, has been established. Furthermore, through our experience with the implementation of the cluster, it has shown the ability of the cluster to handle computing problems with a larger dataset than the one used for the semesters within the scope of the study. We also provide some reflections and highlight future improvements.
Effect of interpregnancy interval on outcomes of transposal pregnancy: a retrospective study
Authors: Li Dong , Hong Jie , Hou Yi
Published: September 2022

Background: This study was aimed to explore the effect of interpregnancy interval (IPI) on outcomes of transposal pregnancy.
Methods: A retrospective study was conducted in Maternal and Child Health Hospital of Jiaxing, Zhejiang Province in China. The participants were divided into five groups according to IPI: 0-1 year, 2-3 years, 4-5 years, 6-10 years and ³11 years. Logistic analysis was further carried out to explore the differences in the effects of IPI on pregnancy outcomes.
Results: A total of 4862 women were included in this study. (1) The age, gestational diabetes mellitus (GDM), gestational hypertension, preeclampsia, anemia, oligohydramnios, postpartum hemorrhage, placenta previa and cesarean section delivery rate were gradually increased with the prolong of IPI (P<0.05). (2) After adjusting for potential confounding factors, compared with women in the IPI of 2-3years group, the risk of gestational hypertension (OR=3.6, 95%CI: 1.27-10.26, P=0.016), preeclampsia (OR=2.44, 95%CI:1.25-4.73, P=0.009), oligohydramnios (OR=1.81, 95%CI:1.14-2.89, P=0.012) and premature rupture of membranes (PROM) (OR=1.39, 95%CI: 1.04-1.84, P=0.025) were increased significantly for women in the IPI ≥11 years group. After adjusting for potential confounding factors, the risk of anemia, placenta previa, precipitate labor and cesarean section delivery rate in the 6-10 years group and ³11 years group were increased with the prolong of IPI compared with women in the IPI of 2-3 years group.
Conclusions: IPI ≥6 years would increase the risk of adverse pregnancy outcomes in the subsequent pregnancy. Healthcare education and consultation should be conducted for women to maintain an appropriate IPI.
Simultaneous Establishing Single-cell Transcriptome Atlas and Chromatin Accessibility Landscapes in Allotetraploid Leguminous Plant
Authors: Liu Hao , Deng Quanqing , Du Puxuan , Lu Qing , Gangurde Sunil , Xiao Yuan , Hu Dongxiu , Wang Wenyi , Li Haifen , Li Shaoxiong , Liu Haiyan , Huang Lu , Wang Runfeng , Liang Xuanqiang , Varshney Rajeev , Hong Yanbin , Chen Xiaoping
Published: September 2022

Plant cell proliferation associated with multiple layers of gene regulation, including modulation of transcriptome by changes in chromatin accessibility. However, cell proliferation is an asynchronous process precluding a temporal understanding of regulatory events leading to single-cell fate commitment. Here, a robust single nucleus RNA sequencing approach, where single nucleus employed for simultaneous investigation of transcriptome (snRNA-seq) and chromatin accessibility (snATAC-seq) landscapes in the same single-cell of Arachis hypogaea leaves. A total of 5,930 leaf cells with 10,793 expressed genes were used to construct development trajectory and characterized large-scale critical differentially expressed genes (DEGs). Additionally, uncovered extending insights of chromatin opening guided 5,315 DEGs expression involved biological pathway determines differentiation direction in distinct cell-types. But obtained members in each cell-clusters not exhibits obvious difference in distinct cell-cycling regulated genome duplication phases. Furthermore, snRNA-seq identified AT-hook transcription factor AhAHL11 promotes leaf area growth by modulating auxin content, but snATAC-seq identified AhBHLH143 displays contrasting results to repress the leaf development by jasmonic acid pathway in ectopically expressed Arabidopsis. We concluded that, snRNA-seq combined with snATAC-seq is an extensible platform to explore association between the chromatin regulatory events and gene expression across diversity cell-types in peanut leaf, broadly application of this approach will enable significant advances in the functional research of tissues ontology in plant species.
Polypharmacy associated with renal impairment in elderly people attending primary health care centers
Authors: Naghnaghia Shayma , Nazzal Zaher , Abualia Laian , AL-Ramahi Rowa ’ , Hamdan Zakaria , Samara Esra'a
Published: September 2022

Purpose: This study aimed to estimate the prevalence of renal impairment among primary health care (PHC) elderly, its association with polypharmacy, and the most frequent potentially inappropriate prescription (PIP) in renal impairment patients.
Methods: A cross-sectional study was conducted among PHC clinic attendees aged 65 and older. We used medical records and an interviewer-administered questionnaire for data collection. Participants with eGFR less than 60mls/min/1.73m2 were categorized as renal impaired; we then calculated the prevalence of renal impairment and used multivariable analysis to identify its predictors. Beer's criteria and literature reviews were used to evaluate renal impairment patients' medication and to determine the frequency of PIPs.
Results: The study included 421 participants (224 female, 197 male), and 66.3% were between the ages of 65 and 75. The prevalence of renal impairment was 30.2% (95%CI: 25.8-34.6%). Polypharmacy [aOR= 5.9, 95%CI: 2.4-14.6], stroke [aOR= 2.5, 95%CI: 1.2-5.4], Females [aOR= 2.6, 95%CI: 1.5-4.7], and elderly over the age of 80 [aOR= 4.4, 95%CI: 2.2-8.8] were the main predictors of renal impairment. RAAS (54.3%), metformin (39.3%) and sulfonylurea (20.4%) were the most frequent reported PIP in renal impairment patients.
Conclusion: Renal impairment affects nearly one-third of elderly Palestinians who attend PHC clinics and has been strongly linked to polypharmacy in this population. Stroke, age, and gender are other identified risk factors in our study. It is recommended to raise healthcare providers' awareness to control elderly patients’ chronic conditions by cautiously prescribing only necessary medication, choosing non-nephrotoxic alternatives, and monitoring their renal function frequently.
Effects of brewer’s spent yeast inclusion level and ensiling duration on fermentative, fungal load dynamics, and nutritional characteristics of fresh brewer’s spent yeast-based silage
Authors: Yadessa Endale , Tamir Berhan , Kitaw Getu , Dejene Mesfin , Terefe Gebremaryam
Published: September 2022

A Small proportion of brewer’s spent yeast (BSY) is used as a protein source to replace costly but conventionally used agro-industrial by-product feeds in Ethiopia with large volumes seen accumulated at production sites causing disposal and public health problems. Consequently, there is a need to develop appropriate ways of using this by-product as livestock feed. This study was conducted to evaluate the effect BSY inclusion level and ensiling duration (ED) on fermentative, fungal load dynamics, and nutritional characteristics of fresh brewer’s spent-yeast based silage. Fresh brewery by-product samples were obtained from Heineken beer factory whereas wheat bran (WB) used as an input for formulating the silage material was purchased from a nearby animal feed processing plant. The ratio of brewery spent grain (BSG) to WB used majorly as protein and energy sources, respectively were 30:69 with 1% salt addition. To prepare the silages materials, 4 BSY inclusion levels (0, 10, 20 and, 30%) to replace BSG and 3 ED (2,4 and 6 weeks) were arranged in 4x3 factorial combination using completely randomized design (CRD) in 5 replications. Parameters measured include: observation for surface spoilage, yeast and mold colony count, silage temperature, pH, total dry matter loss (TDML), major proximate, detergent fractions and permanganate lignin, in-vitro organic matter digestibility (IVOMD) and estimated metabolizable energy (EME) values. The study revealed that at any BSY inclusion level and ED, extensive mold growths and discolorations were not observed. However, slightly higher values of 6.5, 5.7, and 12.2 colony forming unit (CFU)/g DM yeast, mold and total fungal counts (TFC), respectively were recorded only at the 6 weeks of the fermentation period with 30% BSY inclusion level. Brewer’s spent yeast inclusion level and ED had significant (P < 0.05) effect on silage temperature (mean = 18.05 0C) and pH (mean = 4.16). Among proximate and detergent values, crude protein (mean CP g/kg DM = 204.5), neutral detergent fiber (mean NDF g/kg DM = 552.9), and acid detergent fiber (mean ADF g/kg DM = 115.9) responded significantly (P < 0.05) to both BSY inclusion levels and ED. Among nutritional quality, CP, IVOMD, and EME of silage samples were subjected to substantial improvements when silage masses were prepared from 20% BSY inclusion levels and when the same silage materials were allowed to ferment for four weeks. Therefore, before making any further recommendation it is, thus, important to verify the current finding with additional animal response trials that take both biological and economic feasibilities into account.
On-top plasty for atypical Wassel type VI thumb duplication: Timing and key points of surgery
Authors: Xu Jianglong , Zhao Zhanbo , Du Yi , Huang Qi , Liu Yushu
Published: September 2022

Background: Thumb duplication is one of the most common congenital hand deformities, while atypical Wassel type VI thumb duplication is rare and challenging. This study aims to evaluate the clinical efficacy of on-top plasty for atypical Wassel type VI thumb duplication.
Methods: The clinical data of 5 children with atypical Wassel type VI thumb duplication treated by on-top plasty from May 2018 to April 2021 were studied retrospectively. There were 4 males and 1 female with an average age of 28.6(11~47) months. During the surgery, the distal portion of the ulnar thumb was transposed onto the top of the radial thumb, accompanied by tendon transfer from the radial thumb to the ulnar thumb. The patients were followed up postoperatively for the assessment of thumb’s appearance and function by the modified Tada scoring.
Results: All patients were followed up for an average of 29(16~51) months, and acquired good healing. No digit ischemic necrosis or bone nonunion occurred in all patients. The appearance of reconstructed thumbs was excellent, and the function was good and sufficient for patients to carry out activities of daily living. According to the modified Tada scoring, 4 thumbs were good, and 1 thumb was fair.
Conclusions: The on-top plasty is a reliable method for atypical Wassel type VI thumb duplication. The good surgical timing is 1~3 years. The appropriate osteotomy, transposing of digit and transferring of tendons are key points of on-top plasty.
Supported photocatalyst for Cr (VI) conversion and removal of organic pollutants
Authors: Xu Nan , Chen Jingshan , Hu Chunyan , Zhu Zhijia , Wang Wei , Liu Baojiang
Published: September 2022

The photocatalytic property of available semiconductor catalysts still suffer from some urgent problems, such as the high excitation energy, easy agglomeration of powders, and or the weak recycling property. Therefore, developing the novel visible light supported catalysts and catalyst loading have aroused great attention recently. BiVO4, as a hot-spot semiconductor photocatalytic material, bears the advantages of strong visible light absorption capacity, narrow band gap and fast carrier generation rate. However, the carrier recombination rate is fast and the efficiency is low, so it needs to be modified before its use. In this study, a novel BiVO4/Ag3PO4/MWCNTs @Cotton functional fabric was prepared by introducing Ag3PO4 as plasma resonance photocatalyst and MWCNTs and cotton as composite substrates. The results showed that BiVO4/Ag3PO4/MWCNTs @cotton retained the high photocatalytic efficiency of the powder catalyst, along with the degradation degree of active blue KN-R as well as Cr (VI) could reach 92% within 120 min, and it could be reused for 5 times. Free radical scavenging experiments showed that functional fabrics could produce active substances such as h+,·O2- and·OH. The introduction of Ag3PO4 and MWCNTs effectively improved the application ability of BiVO4, inhibited the recombination of carriers and promoted the transport of carriers. The research can provide some study directions for the development of photocatalytic technology in the future.
“I never should have been a doctor”: A Qualitative Study of Imposter Phenomenon among Internal Medicine Residents
Authors: Chodoff Alaina , Conyers Lynae , Wright Scott , Levine Rachel
Published: September 2022

Introduction: Imposter phenomenon is common among medical trainees and may influence learning and professional development. The authors sought to describe imposter phenomenon among internal medicine residents.
Methods: In 2020, using emailed invites we recruited a convenience sample of 28 internal medicine residents from a teaching hospital in Baltimore, Maryland to participate in an exploratory qualitative study. In one-on-one interviews, informants described experiences of imposter phenomenon during residency training. Using thematic analysis to identify meaningful segments of text, the authors developed a coding framework and iteratively identified and refined themes. Informants completed the Clance Imposter Phenomenon Scale.
Results: Informants described feelings and thoughts related to imposter phenomenon, the contexts in which they developed and the impact on learning. Imposter phenomenon has profound effects on residents including: powerful and persistent feelings of inadequacy and habitual comparisons with others. Distinct contexts shaping imposter phenomenon included: changing roles with increasing responsibilities; constant scrutiny; and rigid medical hierarchy. Learning was impacted by inappropriate expectations, difficulty processing feedback, and mental energy diverted to impression management.
Discussion: Internal medicine residents routinely experience imposter phenomenon; these feelings distort residents’ sense of self confidence and competence and may impact learning. Modifiable aspects of the clinical learning environment exacerbate imposter phenomenon and thus can be acted upon to mitigate imposter phenomenon and promote learning among medical trainees.
Minimal-entropy velocity estimation from GPS position time series
Authors: Saleh Jarir , Williams Simon
Published: September 2022

We propose a nonparametric method based on minimal-entropy for estimating an optimal velocity and its realistic variance from a position time series of unknown noise. We show based on simulations that minimal-entropy derived velocity is accurate and its uncertainty is realistic in the presence of colored noise. We then show that entropy and hence the proposed method is unaffected by periodic loading effects and use 130 CORS GPS time series to numerically verify that the proposed method is even more conclusive, reaching less scattered results, than existing methods for short time series. Although the presence of discontinuities complicates everything, we demonstrate by simulation that minimal-entropy velocity estimation offers a theory for handling discontinuities if they are viewed as independent binary random variables. This offers a new tool for investigating the effect of increasing number of step discontinuities on velocity estimation. Finally, viewing the timing variable as a random variable, uniformly distributed in the case of no data gaps or not if gaps do exist, offers a tool for dealing with the effect of data gaps (or the so-called “censored data”) on velocity estimation. The entropy of a stochastic process is a single unique quantity of the process which expresses its irreducible complexity/uncertainty, beyond which there is no simplification (or “compression”). It is based on the probability density function (pdf) of the process rather than only one or two of its moments, thus it senses all stochastic properties related to variations within the series. Because it is nonparametric, the proposed method neither requires appriori knowledge the type of stochastic noise contaminating the position time series nor its pdf.
Risk Stratification Based on Acute-on-chronic liver failure in cirrhotic patients hospitalized with acute variceal bleeding
Authors: Jiang Hui-Qing , Zhu Zongyi
Published: September 2022

Background and aims: Acute variceal bleeding (AVB) is a life-threatening complication of cirrhosis. This study aimed to evaluate the role of Acute-on-chronic liver failure (ACLF) in the risk stratification of cirrhotic patients hospitalized with AVB.
Methods: Prospective data of 417 consecutive cirrhotic patients hospitalized with AVB were retrospectively collected and analyzed. ACLF was defined by European Association for the Study of Liver-Chronic Liver Failure Consortium (EASL-CLIF-C) and diagnosed/graded with chronic liver failure-organ failure score.
Results: A total of 218 (52.2%) patients were diagnosed with EASL-ACLF (grade 1: 18.3%, grade 2: 32.2%, grade 3: 49.5%) at admission. The cumulative 6-week survival rate in patients with ACLF was significantly lower than those without (53.2% vs. 88.9%, P<0.001) and decreased in line with the severity of ACLF (P <0.001). In multivariate analysis, presence of ACLF remained as an independent risk factor for 6-week mortality after adjusting for confounding factors (HR =2.74, p<0.001). CLIF-C ACLF and CLIF-C AD outperformed traditional prognosis scores in the prediction of 6-week mortality in patients with and without ACLF, respectively.
Conclusion: ACLF at admission is an independent predictor for the 6-week mortality in cirrhotic patients with AVB. For AVB patients with and without ACLF, CLIF-C ACLF and CLIF-C AD outperformed other prognostic scores in the prediction of 6-week mortality, respectively.
Genomic epidemiology and mechanisms of antibiotic resistance in Pseudomonas aeruginosa isolated from children’s hospital in Shenzhen, China
Authors: Patil Sandip , Chen Xiaowen , Mai Huirong , Lian Ma , Lopes Bruno Silvester , Liu Sixi , Wen Feiqiu
Published: September 2022

Background
The emergence of multi-drug-resistant Pseudomonas aeruginosa poses a global threat worldwide. We studied the molecular epidemiology and antibiotic resistance mechanisms in 294 clinical isolates of P. aeruginosa from a paediatric hospital.
Methods
Isolates were identified using an API-20 kit and antimicrobial susceptibility testing was performed using the VITEK®2 compact. β-lactamases, plasmid types and sequence types were determined by PCR and sequencing. The double-disc diffusion method for ESBL was performed.
Results
56% (n = 164) isolates were resistant to piperacillin-tazobactam followed by cefepime 40% (n = 117), ceftazidime 39% (n = 115), imipenem 36% (n = 106), meropenem 33% (n = 97), ciprofloxacin 32% (n = 94). 42% (n = 126) isolates were positive for ESBL by double-disc diffusion. The blaCTX-M-15 cephalosporinase was observed in 32% (n = 40/126) while 26% (n = 33/126) were positive for blaNDM-1 carbapenemase. Aminoglycoside resistance gene aac(3)IIIa was observed in 16% (n = 20/126) and glycylcycline resistance gene tetA(Aa) in 12% (n = 15/126) of the isolates. A total of 23 sequence types were detected, ST1963, 12% (n = 16) followed by ST381, 11% (n = 14); ST234, 10% (n = 13; ST145, 58% (n = 10); ST304, 57% (n = 9); ST663 5% (n = 7) and a novel strain. In ESBL-producing P. aeruginosa, 12 different Incompatibility groups (Inc) were observed, the most common being IncFI, IncFIS and IncA/C. The MOBP was the most common plasmid type followed by MOBH, MOBF and MOBQ.
Conclusion
The spread of antibiotic resistance is likely due to clonal spread and circulation of different plasmids in clinical strains of P. aeruginosa.
Laterality Index Calculations in a Control Study of Functional Near Infrared Spectroscopy
Authors: Borrell Jordan A. , Fraser Kaitlin , Manattu Arun Karumattu , Zuniga Jorge M.
Published: September 2022

Hemispheric dominance has been used to understand the influence of central and peripheral neural damage on the motor function of individuals with stroke, cerebral palsy, and limb loss. It has been well established that greater activation occurs in the contralateral hemisphere to the side of the body used to perform the task. However, there is currently a large variability in calculation procedures for brain laterality when using functional near-infrared spectroscopy (fNIRS) as a non-invasive neuroimaging tool. In this study, we used fNIRS to measure brain activity over the left and right sensorimotor cortices while participants (n = 20, healthy and uninjured) performed left and right-hand movement tasks. Then, we analyzed the fNIRS data using two different processing pipelines (block averaging or general linear model [GLM]), two different criteria of processing for negative values (include all beta values or include only positive beta values), and three different laterality index (LI) formulas. The LI values produced using the block averaging analysis indicated an expected contralateral dominance with some instances of bilateral dominance, which agreed with the expected contralateral activation. However, the inclusion criteria nor the LI formulas altered the outcome. The LI values produced using the GLM analysis displayed a robust left hemisphere dominance regardless of the hand performing the task, which disagreed with the expected contralateral activation. In conclusion, we recommend using the block averaging analysis when calculating brain laterality as measured by fNIRS.
How disability severity is associated with physical activity and inactivity from adolescence to young adulthood
Authors: Jung Jihoon , Park Seungyeon , Lee Chung Gun
Published: September 2022

Background:Disabilities may play a different role in determining people’s physical activity (PA) and physical inactivity (PI) levels when they go through multiple lifetime transitions (e.g., graduation, marriage) between adolescence and young adulthood. This study investigates how disability severity (i.e., no, minimal, mild, and moderate/severe disability and/or limitation) is associated with changes in PA and PI engagement levels, focusing on adolescence and young adulthood, when the patterns of PA and PI are usually formed.Methods:The study employed data from Waves 1 and 4 of the National Longitudinal Study of Adolescent Health, which covers a total of 15,701 subjects. We first categorized subjects into 4 disability groups: no, minimal, mild, or moderate/severe disability and/or limitation. We then calculated the differences in PA and PI engagement levels between Waves 1 and 4 at the individual level to measure how much the PA and PI levels of individuals changed between adolescence and young adulthood. Finally, we used two separate multinomial logistic regression models for PA and PI to investigate the relationships between disability severity and the changes in PA and PI engagement levels between the two periods after controlling for multiple demographic (age, race, sex) and socioeconomic (income level, education level) variables.Results:We showed that individuals with minimal disabilities were more likely to decrease their PA levels than those without disabilities during transitions from adolescence to young adulthood. Our findings also revealed that individuals with moderate to severe disabilities tended to have higher PI levels than individuals without disabilities when they were young adults. Furthermore, we found that people above the poverty level were more likely to increase their PA levels to a certain degree compared to people in the group below or near the poverty level.Conclusions:Our study partially indicates that individuals with disabilities are more vulnerable to unhealthy lifestyles due to a lack of PA engagement and increased PI time compared to people without disabilities. We recommend that health agencies at the state and federal levels allocate more resources for individuals with disabilities to mitigate health disparities between those with and without disabilities.
Genetic Screening of a Chinese Cohort of Children with Hearing Loss using a Next-Generation Sequencing Panel
Authors: Ma Jing , Ma Xiuli , Lin Ken , Huang Rui , Bi Xianyun , Ming Cheng , Li Li , Li Xia , Li Guo , Zhao Liping , Yang Tao , Gao Yingqin , Zhang Tiesong
Published: September 2022

Background At present, the hereditary hearing loss homepage, (https://hereditaryhearingloss.org/), includes 250 deafness genes and more than 500 genes that have been reported to cause deafness. With few exceptions, the region-specific distributions are unclear for many of the identified variants and genes.
Methods Here, we used a custom capture panel to perform targeted sequencing of 518 genes in a cohort of 879 deaf Chinese probands who lived in Yunnan. mutation sites of the parents were performed by high-throughput sequencing and validated by Sanger sequencing.
Results The ratio of male to female patients was close to 1:1 (441:438) and the age of onset was mainly under six. Most patients (68.9%) were diagnosed with moderate to severe deafness. Four hundred and twenty-nine patients had variants in a deafness gene, with a detection rate of 48.8%. Pathogenic variants were detected in 98 genes and a number of these were recurrent within the cohort. However, many of the variants were rarely observed in the cohort. In accordance with the American College of Medical Genetics and Genomics, pathogenic, likely pathogenic and variants of uncertain significance accounted for 34.3%, 19.3% and 46.4% of all detected variants, respectively. The most common genes included GJB2, SLC26A4, MYO15A, MYO7A, TMC1, CDH23, USH2A and WFS1, which contained variants in more than ten cases. The two genes with the highest mutation frequency were GJB2 and SLC26A4, which accounted for 28.5% (122/429) of positive patients. We showed that more than 60.3% of coding variants were rare and novel. Of the variants that we detected, 80.0% were in coding regions, 17.9% were in introns and 2.1% were copy number variants.
Conclusion The common mutation genes and loci detected in this study were different from those detected in other regions or ethnic groups, which suggested that genetic screening or testing programs for deafness should be formulated in accordance with the genetic characteristics of the region.
Trichalcogenohexaindenocoronenes: Super Buckylbowls Based
on Coronene Core
Authors: Sun Yixun , Wang Xin , Chen Muhua , Yang Bo , Guo Ziyi , Xu Mingyu , Zhang Yunjie , Sun Huaming , Dang Jingshuang , Fan Juan , Li Jing , Wei Junfa
Published: September 2022

Synthesis of buckybowls, especially, the large sized ones, have remained a huge challenge yet due to the inherent high strain induced by curvature. Herein, we report two novel bowl-shaped polycyclic aromatics with three chalcogen (sulfur or selenium) atoms and three methylene groups embedded at the bay regions of hexa-peri-hexabenzocoronene and an expeditious three-step synthetic strategy for these superbowls, including an aldol cyclotrimerization, a Scholl reaction, and a Stille reaction. The superbowls of this type feature a nanosized, compact, and C3vsymmetric architecture, composing of 19 fused rings, 48 constituent atoms. NMR spectroscopic and X-ray crystallographic studies confirmed their bowl-shaped geometries. The crystal structures revealed that they encompass 36 pyramidalized trigonal carbon atoms and have the bowl depths of 2.29 ˚A and 2.16 ˚A and diameters of 11.06 ˚A and 11.35 ˚A for the sulfur and selenium isologs. The curvature mainly distribute at the carbon atoms of the coronene frame and edge-to-convex packing predominates due to intermolecular C–H· · · π and chalcogen· · · π interactions in two instances. Variable temperature 1H NMR experiments and theoretical calculations demonstrated the bowls have considerably high inversion barriers. The optical and electrochemical properties were elucidated by UV/vis and fluorescence spectroscopy and cyclic voltammetry. Moreover, the aromaticity distribution and electrostatic potential characteristics as well as perpendicularly aligned convex-to-concave dipolemoments were investigated by density functional theory calculations.
Study of Interactions Between 3-benzoyl-4-hydroxy-2-methyl-2H-1, 2-benzothiazine and Human DNA by Theoretical, Spectroscopic and Viscometric measurements
Authors: Asim Sadia , Mansha Asim , Aslam Sana , Shahzad Alina
Published: September 2022

From the last few years mode of interactions between drugs and DNA is an attractive research area as it bridges chemistry, molecular biology and medicinal science. Interactions between small heterocyclic molecules and human DNA is a noteworthy feature in pharmacology for investigation of drugs mechanism and designing of more effective and target specific drugs with fewer side effects. The present research work focuses on the theoretical investigations of 3-benzoyl-4-hydroxy-2-methyl-2H-1, 2-benzothiazine (SASA) by using Gaussian (16W) software to predict optimized geometry, HOMO-LUMO gap, bond length, bond angle, dihedral angle, electronic and vibrational spectra. Possible reaction site observed in SASA was C7, C9 and C18 as these atoms show maximum charge density. Later the interactions of SASA with human DNA was explored spectroscopic investigations and viscometric investigations at physiological buffers of pH of 4.7 (stomach pH) and 7.4 (blood pH) respectively. Maximum absorbance between SASA-DNA complex was observed in buffer solution of pH 3.4 at wavelength of 370nm, whereas at 7.4 has maximim absorbance between. Spectroscopic results reflects the bathochromic and hyperchromic shift succeeding the addition of human DNA. During viscosity measurement, intercalation and electrostatic mode of interaction were detected at low and high concentration of drug in solution respectively. Increase in the value of rate constant was observed with the increase in concentration of drug. Larger values of rate constant were observed at pH 7.4 in comparison to pH 3.5. Rate constant, thermodynamic parameters and viscometric analysis prefers the intake of SASA via blood.
Groundwater and Soil Moisture Dynamics in Humid Tropic Hillslopes With Contrasting Soil Depths and Topographic Conditions
Authors: Djamres Eilif Kurnia Deda , Sayama Takahiro , Yamamoto Eva Mia Siska , Sugawara Yoshito , Yamamoto Kodai , Apip Apip
Published: September 2022

Soil and bedrock characteristics play important roles in groundwater (GW) and soil moisture dynamics along hillslopes. Compared to temperate climate regions, runoff in the humid tropics remains poorly understood, being broadly characterized by deeply weathered bedrock and thick soils with rich clay content. To better understand subsurface runoff processes in humid tropics, GW and soil moisture were monitored in two adjacent hillslopes with different underlying soil depths and land cover (forest and oil palm). The monitoring results showed that the average depths and temporal variations of GW varied substantially between the two sites. At the forest site, where the topography is comparatively steeper and covered with a shallower soil layer, the GW at the foot of the slope was more responsive to rainfall. Alternatively, the comparatively gentle slope and deeper soil layer of the palm oil site produced GW patterns that responded more slowly to rainfall. To elucidate the predominant controlling factors, a physically based hydrologic model was employed whose parameters were estimated from the field observations, and calibrated further to represent the observed patterns. Subsequently, a numerical experiment was conducted by varying the model parameters. The findings indicated that soil depth and saturated hydraulic conductivity have important roles in the dynamic response of GW; whereas soil water retention curves were also prominent determinants of surface soil moisture. The results also supported the importance of lateral saturated subsurface flow in soil layers, leading to the rapid responses of GW at the forest site, while such dynamic patterns did not appear in thicker soil layers, indicating different subsurface flow mechanisms, even at adjacent hillslopes.
The value of hepatic venous pressure gradient in patients with pyrrolidine alkaloid-induced hepatic sinusoidal obstruction syndrome
Authors: Cai Zihao , Li Ruiqi , Zhang Han , Zhao Si , Tu Jingjing , Zhang Ming , Zhang Feng , Zhang Wei , Yin Qin , Xu Hui , Han Hao , Chen Jun , Zhuge Yuzheng , Xiao Jiangqiang
Published: September 2022

Background Pyrrolidine alkaloid‑induced hepatic sinusoidal obstruction syndrome (PA-HSOS) is a drug-induced liver injury characterized by sudden and rapidly progressive portal hypertension. Hepatic venous pressure gradient (HVPG) is the gold standard for the diagnosis of sinus hypertension, at least in viral and alcoholic liver disease, while its role in evaluating disease severity and treatment choice and predicting prognosis in patients with PA-HSOS needs further verification. The aim of this study was to investigate the clinical value of HVPG in patients with PA-HSOS.
Methods Patients who were diagnosed with PA-HSOS according to the “Nanjing criteria” and received HVPG measurements in our hospital between January 2016 and April 2020 were reviewed retrospectively. Next, the predictive efficacy of HVPG in initial anticoagulant therapy, the prognostic survival of patients in different HVPG groups, the relationship between HVPG and the Drum Tower Severity Scoring (DTSS), the correlation between HVPG and pathological data were all evaluated.
Results A total of 76 PA-HSOS patients were included in the study. Multivariate logistic regression analysis identified HVPG as independently associated with nonresponse to initial anticoagulation (95% CI: 1.006-1.413, P=0.043). The receiver operating characteristic curve (ROC) identified a cutoff value of 20.165 mmHg (sensitivity: 0.744, specificity: 0.697) for predicting nonresponse to initial anticoagulation, and the area under the curve (AUC) was 0.741 (95% CI: 0.626-0.857, P<0.001). When HVPG>20.165 mmHg was combined with serum total bilirubin (STB), heart rate (HR) and blood urea nitrogen (BUN) for modeling, the AUC was 0.881 (P<0.001). Seventy-six patients were divided into two groups according to whether HVPG was greater than 20.165 mmHg, and the patients in the high HVPG group (HVPG＞20.165 mmHg) had a significantly worse prognostic survival than the patients in the low HVPG group (HVPG＜20.165 mmHg) (P=0.022, χ2=5.285). Additionally, there was a linear correlation between HVPG and the area of sinusoidal bleeding in 76 patients (P=0.008, R=0.343). Furthermore, after excluding the patients with an onset time of more than 1 month, HVPG improved the efficacy in predicting nonresponse to anticoagulant therapy (AUC=0.789, 95% CI: 0.654-0.924, P=0.001), and the linear relationship between HVPG and bleeding area in the sinusoids was enhanced (P=0.001, R=0.499). In addition, a linear relationship between HVPG and DTSS emerged (P<0.001, R=0.522).
Conclusions HVPG can assist in predicting the outcome of anticoagulant therapy and prognosis in patients with PA-HSOS, and this prediction is more accurate for patients within one month of disease onset.
Validation of CORONA VIRUS Emergency Triage Tool (CorVETT) among adults in the emergency department of a low resource setting
Authors: Waheed Shahan , Kapadia Nazir Najeeb , Rahim Ahmed , Afzal Badar , Mian Asad Iqbal
Published: September 2022

Background:
In this study we aim to validate corona virus emergency triage tool (CorVETT) for accurate triaging and disposition in adults presenting to the emergency department with suspected corona virus symptoms.
Observational prospective cohort study conducted in the emergency department. Methodological framework of Transparent Reporting of multivariable prediction model for individual Prognosis and Diagnosis (TRIPOD) type I was adopted. Algorithm tested consists of four sequential stages; presenting features, vitals, associated features and high-risk conditions. Cumulative score of four stages categorizes patient as COVID or non-COVID and was assigned non isolation or isolation beds. Prediction model for presence of relevance (event) was obtained by dividing data into two parts; training (n = 450) and validation (n = 115). Probability of event was estimated using linear logistic regression with training data. Predictive capacity of model was assessed using a receiver operative curve (ROC) curve through set of validation data. The discriminative capacity was evaluated using area under curve (AUC), estimated by a 95% confidence interval. P-value less than 0.05 was considered statistically significant. The statistical analysis was performed on "R" (version 3.4.1, 2017) and Statistical Package for Social Science (SPSS, version 21.0, 2016).
Results:
595 patients were enrolled, 349 (59%) were male and 246 (41%) female. Mean age of study sample was 55.35 ± 17.08. Majority of patients were admitted in the emergency department isolation facility 412 (69%). The patients who were discharged from Emergency department (ED) with quarantine instructions were 183 (31%). 381(64%) of our patients were COVID 19 PCR positive and 214(36%) were negative. Out of 381 positive patients 238(62%) were males and 143(37%) females. The mean prediction score for CorVETT was 4.57 ± 3.12 with 5.91 ± 2.38 in COVID positive patients and 2.2 ± 2.86 in COVID negative patients with a p-value of <0.001. AUC of the tool was 0.819 (0.786 to 0.849) with p-value <0.001. Sensitivity was 86.61 (82.8 to 89.9) and specificity 71.96 (65.4 to 77.9) with a LR of 3.09 (2.5 to 3.8).
Conclusion:
Corona virus emergency triage tool was accurate as a screening triage tool and subsequent disposition in the emergency department.
Rapidly progressed Natural Killer/ T cell Lymphoma with hyperleukocytosis and NOTCH4 mutation but without Epstein-Barr virus infection:A case report
Authors: Li Chencheng Li , Xu Zuqiong Xu , Liu Xixi Liu , Tian Fang Tian , Jiang Pengjun Jiang , Chen Biqing Chen , Dai Xingbin Dai , Zhu Xuejun Zhu
Published: September 2022

Background: Natural killer/T-cell lymphoma(NKTCL) is a highly aggressive non-Hodgkin's lymphoma that is prevalent in Asia and South America. However, given the high malignancy grade, rapid clinical progress and poor long‐term prognosis of NKTCL, exploring the potential mechanism of NKTCL is of great significance for the development of drugs for NKTCL.
Case presentation: We presented a case of a woman who was admitted to hospital with multiple enlarged lymph nodes and high white blood cells ,and flow cytometry examination revealed CD56 bright, CD16 dim, surface CD3-, cytoplasmic CD3+, CD2+, CD7-, HLA-DR+, CD57-, TCRβ and TCRγ genes rearrangement. No further pathological diagnosis was made because the patient's condition did not meet the need for biopsy, deteriorated rapidly and died within three days after admission; NKTCL was diagnosed based on clinical manifestations. Whole exome sequencing revealed that the NOTCH4, KMT2D, and S100A16 mutations were closely related to the occurrence and progression of NKTCL. In addition, this patient was EBV-negative.
Conclusions: We mainly diagnosed NKTCL by exclusion, and the pathogenesis is complex or not limited to EBV. The discovery of new mutant genes will provide potential impact on clinical diagnosis and research guidance for its pathogenesis, prognosis, drug resistance and targeted therapy.