bluuebunny/crossref_metadata_2025 huggingface dataset:
Functional analysis of ectodysplasin-A mutations and involvement of X-chromosome inactivation
Authors: Pan Yuhua , Lu Ting , Peng Ling , Zeng Qi , Huang Xiangyu , Wu Buling , Xiong Fu
Published: August 2021

Objectives: The aim of this study was to identify genetic clues for the causes of familial non-syndromic oligodontia and explore the underlying mechanisms involved, while focusing on the role of human dental pulp stem cells (hDPSCs).Materials and Methods: Candidate gene sequences were obtained by PCR amplification and Sanger sequencing. Functional analysis was conducted, and the pathogenesis associated with EDA mutations in hDPSCs was investigated to explore the impact of the identified mutation on the phenotype. Capillary electrophoresis (CE) was used to detect X chromosome inactivation (XCI) in the blood of female carriers.Results: In this study, we identified an EDA mutation in a Chinese family：the missense mutation c.1013C>T (Thr338Met). Transfection of hDPSCs with a mutant EDA lentivirus decreased the expression of EDA and dentin sialophosphoprotein (DSPP) compared with transfection of control EDA lentivirus. Mechanistically, mutant EDA inhibited the activation of the NF-κB pathway. The CE results showed that symptomatic female carriers had a skewed XCI with a preferential inactivation of the X chromosome that carried the normal allele.Conclusions: In summary, we demonstrated that EDA mutations result in non-syndromic tooth agenesis in heterozygous females and that, mechanistically, EDA regulates odontogenesis through the NF-κB signalling pathway in hDPSCs.Clinical Relevance: Due to the large heterogeneity of tooth agenesis, this study provided a genetic basis for individuals who exhibit similar clinical phenotypes.
Clinical Values of Resting Electrocardiography in Patients with Known or Suspected Chronic Coronary Artery Disease: A Stress Perfusion Cardiac MRI Study
Authors: Kaolawanich Yodying , Thongsongsang Rawiwan , Songsangjinda Thammarak , Boonyasirinant Thananya
Published: August 2021

Background Electrocardiography (ECG) is an essential investigation in patients with chronic coronary artery disease (CAD). However, evidence regarding the diagnostic and prognostic value of ECG in this population is limited. Therefore, we sought to determine whether baseline ECG abnormalities were associated with myocardial ischemia and cardiac events in patients with known or suspected chronic CAD. Methods Consecutive patients with known (n=146) or suspected chronic CAD (n=349) referred for adenosine stress cardiac magnetic resonance (CMR) between 2011 and 2014 were enrolled. Resting ECGs were classified as major, minor and no abnormalities. Predictors of myocardial ischemia on CMR and major adverse cardiac events (MACE) including cardiac death, nonfatal myocardial infarction, hospitalization for heart failure and late revascularization (>180 days after CMR) were evaluated.Results Average age was 69±11 years (51% men). One hundred and eighty-five patients (37.4%) had major and 154 (31.1%) had minor ECG abnormalities. In patients with suspected CAD, myocardial ischemia was present in 83 patients (23.8%). Multivariable analysis demonstrated major ECG abnormality as the strongest predictor of myocardial ischemia (HR 2.88; 95% CI 1.69-4.92; p<0.001). Adding ECG to clinical pretest probability models improved the prediction of myocardial ischemia in ROC analyses (p=0.04). In the whole cohort (n=495), 91 MACE occurred during the median follow-up period of 4.8 years. Multivariable analysis showed that diastolic blood pressure, history of heart failure, prior revascularization, ischemia, myocardial scarring, and major ECG abnormality were independent predictors of MACE.Conclusion Abnormal resting ECG is common in patients with known or suspected chronic CAD. ECG had important diagnostic and prognostic values in this population.
Long Noncoding RNA PTTG3P Promotes the Development of Childhood Asthma by Targeting the miR-192-3p/CCNB1 Axis
Authors: Dai Bing , Sun Feifei , Cai Xuxu , Li Chunlu , Liu Fen , Shang Yunxiao
Published: August 2021

Background: Increasing studies have suggested that long non-coding RNAs (lncRNAs) affect the regulation of immune responses, airway inflammation, and other pathological processes of asthma. In this study, we investigated the functions of the lncRNA PTTG3P in the progression of childhood asthma.Methods: A competitive endogenous RNA network PTTG3P/miR-192-3p/CCNB1 was identified via bioinformatics analyses. Real-time qPCR and western blot were used to quantify gene and protein expression levels, respectively. Cell counting kit‑8 and transwell assays were used to evaluate the proliferation and migration abilities of bronchial epithelial cells (16HBE). Double luciferase reporter gene assay was used to validate the predictive targets in PTTG3P, miR-192-3p, and CCNB1.Results: PTTG3P was highly expressed in the peripheral blood of children with asthma. Knocking down PTTG3P could inhibit the epithelial-mesenchymal transition (EMT), proliferation, and migration of 16HBE cells. Mechanistically, PTTG3P promoted childhood asthma progression by targeting the miR-192-3p/CCNB1 axis.Conclusions: Childhood asthma development can be stemmed by targeting the PTTG3P/miR-192-3p/CCNB1 axis. This study provides potential diagnosis and treatment biomarkers for childhood asthma.
Article A Genome-Wide Association Study To Identify Candidate Genes for Metabolic Disorders in Offspring by In Vitro Fertilization
Authors: Liu Lihong , Ha Siyao , Li Zhiling , Li MingQing
Published: August 2021

Background

In vitro fertilization (IVF) processes increase offspring's short-term and long-term health risks, but their mechanisms remain unclear.
Methods

We conducted a bibliometric analysis to determine the landscape of IVF offspring health. Subsequently, a bioinformatics method was utilized to identify the co-genes properties and biological function mechanisms of IVF and type 2 diabetes mellitus (T2DM). Finally, we predicted compounds against key targets and performed multiple validations of the mechanisms underlying IVF offspring health risks.
Results

We identified 15 genes associated with T2DM, and their biological functions are primarily associated with lipid metabolism. We also identified the properties of co-genes, modified characteristics, confirmed a conserved motif, identified 3 SNPs sites, and determined the three core genes, APOA1, APOB, and APOE, which were mainly correlated with metabolic and cardiovascular diseases. In addition, we predicted drugs that may improve metabolic abnormalities in IVF offspring.
Conclusion

The impact of aberrant lipid metabolism in offspring after IVF therapy warrants additional investigation, particularly in terms of long-term health consequences and possible mechanisms.
Psychosocial Risk, Symptom Burden, and Concerns in Families Affected by Childhood Cancer
Authors: Russell K. Brooke , Patton Michaela , Tromburg Courtney , Zwicker Hailey , Guilcher Gregory M. T. , Bultz Barry D. , Schulte Fiona
Published: August 2021

PURPOSE: The revised Psychosocial Assessment Tool (PATrev) is a common family-level risk-based screening tool for pediatric oncology that has gained support for its ability to predict, at diagnosis, the degree of psychosocial support a family may require throughout the treatment trajectory. However, ongoing screening for symptoms and concerns (e.g., feeling alone, understanding treatment) remain underutilized. Resource limitations necessitate triaging and intervention based on need and risk. Given the widespread use of the PATrev, we sought to explore the association between family psychosocial risk, symptom burden (as measured by the revised Edmonton Symptom Assessment System; ESAS-r), and concerns (as measured by the Canadian Problem Checklist; CPC). METHODS: Families (n = 85) with children between 2–18 years of age (M = 11.98, male: 62.4%) on or off treatment for cancer were recruited from the Alberta Children’s Hospital. One parent from each family completed the PATrev and the CPC. Participants 8–18 years of age completed the ESAS-r. RESULTS: Risk category (unviersal/low risk = 67.1%, targeted/intermediate risk = 21.1%, clinical/high risk = 5.9%), predicted symptom burden (F[2, 63.07] = 4.57, p = .014) and concerns (F[2, 80.08] = 16.34, p < .001), such that universal risk was associated with significantly lower symptom burden and fewer concerns. CONCLUSION: Family psychosocial risk is associated with cross-sectionally identified concerns and symptom burden, suggesting that resources might be prioritized for families with the greatest predicted need. Future research should evaluate the predictive validity of the PATrev to identify longitudinal concerns and symptom burden throughout the cancer trajectory.
Identifying and Responding To Anxiety and Depression in Adult Cancer Patients: Development, Acceptability and Uptake of An On-Line Communication Skills Education Program Targeting Challenging Conversations for Oncology Health Professionals
Authors: Shaw Joanne , Allison Karen , Cuddy Jessica , Lindsay Toni , Grimison Peter , Shepherd Heather , Butow Phyllis , Shaw Tim , Baychek Kate , Group ADAPT Program , Kelly Brian
Published: August 2021

Background: Anxiety and depression screening and management in cancer settings occurs inconsistently in Australia. We developed a clinical pathway (ADAPT CP) to promote standardized assessment and response to affected patients and enhance uptake of psychosocial interventions. Health professional education is a common strategy utilised to support implementation of practice change interventions. Health professional education is a common strategy utilised to support implementation of practice change interventions. We developed an interactive on-line education program to support staff communication and confidence with anxiety/depression screening and referral prior to the ADAPT CP being implemented in 12 oncology services participating in the ADAPT CP cluster randomised controlled trial (CRCT). The aim of this research was to assess acceptability and uptake of the education program.Patient Involvement: Although the wider ADAPT Program included patient consumers on the Steering Committee, in the context of this research consumer engagement included health professionals working in oncology. These consumers contributed to resource development.Methods: Development was informed by oncology and communication literature. The five online modules were pilot tested with 12 oncology nurses who participated in standardised medical simulations. Acceptability and uptake were assessed across the 12 Oncology services participating in the ADAPT CRCT. Results: During pilot testing the online training was reported to be acceptable and overall communication and confidence improved for all participants post training. However, during the ADAPT CRCT uptake was low (7%; n=20). Although those who accessed the training reported it to be valuable, competing demands and online format reportedly limited HPs’ capacity and willingness to undertake training.Conclusions: This interactive on-line training provides strategies and communication skills for front-line staff to guide these important conversations. Building workforce skills, knowledge and confidence is crucial for the successful implementation of practice change interventions. However, despite being acceptable during pilot testing, low uptake in real world settings highlights organisational support and incentivisation for frontline staff to undertake training is critical for wider engagement. A multimodal approach to delivery of training to cater for staff preferences for face to face and/or online staff may maximise training uptake and increase effectiveness of training interventionsTrial Registration: Pilot study ACTRN12616001490460 (27/10/2016). ADAPT RCT ACTRN12617000411347(22/03/2017)
Calibrating a Discrete-Event Simulation for Quantification of Sex-Specific Colorectal Neoplasia Development
Authors: Vivas-Valencia Carolina , Kong Nan , Sai Aditya , Imperiale Thomas F
Published: August 2021

Background: Medical evidence collected from new observational studies can sometimes significantly alter our understanding of disease incidence and progression. This requires efficient and accurate calibration of disease models to help quantify the differences between observed cohorts. However, in model calibration, it is common to encounter overfitting with many model parameters but few observational outcomes. Additionally, the difficulty in evaluating fitting performance is significant due to a large degree of outcome variation and expensive computations for even a single simulation run. Methods: We developed a two-phase calibration procedure to address the above challenges. As a proof-of-the-concept study, we verified the procedure with a discrete-event-simulation-based study on sex-specific colorectal neoplasia development. For the study, we estimated eight disease model parameters that govern colorectal adenoma incidence risk and growth rates at three distinct states: non-advanced, advanced adenoma, and adenoma becoming cancerous. For the calibration, we defined the likelihood measure by a relative weighted sum-of-squares difference between the three actual prevalence values reported in a recent publication and those predicted by a discrete-event colorectal cancer simulation. In phase I of the calibration procedure, we performed a series of low-dimensional sampling-based grid searches to identify reasonably good candidate parameter designs. In phase II, we performed a local search-based approach to further improve the model fit.Results: Overall, our two-phase procedure showed better goodness of fit than a straightforward implementation of the Nelder-Mead algorithm, yielding a 10-fold reduction in calibration error (0.0025 vs. 0.0251 for an all-white mixed-family-history male cohort on the likelihood measure defined above). Further, the two-phase procedure was more effective in calibrating a validated simulation model for a female cohort than a male cohort. Finally, in phase II, performing local search on each of the parameters sequentially is more effective than searching the entire parameter space simultaneously. Conclusions: The proposed two-phase calibration procedure is effective for estimating computationally expensive stochastic dynamic disease models. In addition, initial parameter search range truncation and sensitivity analysis on various parameters can be computationally cost-effective.
Tissue-specific ramp sequences correspond with increased gene expression in humans and SARS-CoV-2
Authors: Miller Justin , Meurs Taylor , Hodgman Matthew , Song Benjamin , Ebbert Mark , Kauwe John , Ridge Perry
Published: August 2021

Translational ramp sequences are essential regulatory elements that have yet to be characterized in specific tissues. Ramp sequences increase gene expression by evenly spacing ribosomes and slowing initial translation. Therefore, the relative codon adaptiveness within different tissues changes the existence of a ramp sequence without altering the underlying genetic code. Here, we present the first comprehensive analysis of tissue and cell type-specific ramp sequences, and report 3,108 genes with ramp sequences that change between tissues and cell types. The Ramp Atlas (https://ramps.byu.edu/) is an accompanying web portal that allows researchers to query ramp sequences in 18,388 genes across 62 tissues and 66 cell types. We also identified seven SARS-CoV-2 genes and seven human SARS-CoV-2 entry factor genes with tissue-specific ramp sequences that may help explain viral proliferation within those tissues. We anticipate that The Ramp Atlas will facilitate future tissue-specific ramp sequence analyses to develop targeted therapeutics for human disease.
Vitamin D Receptor Gene Polymorphism as a Risk Factor for Chronic Periodontitis
Authors: Hamrun Nurlindah , Ruslin Muhammad , Marlina Erni , Oktawati Sri , Saito Takashi , Yusuf Andi Siti Hajrah , Ou Keng-Liang
Published: August 2021

Background: The aim of this study was to investigate vitamin D receptor (VDR) gene polymorphism as a risk factor associated with chronic periodontitis (CP) and to determine the effect of VDR gene polymorphism on phenotypic CP.Methods: This study is a case-control design that included 162 adults divided into two groups: patients with CP (case group) and patients without CP (control group). Venous blood and DNA were obtained from individual samples. The gene polymorphism was determined using Restricted Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR) and DNA sequencing to identify endonuclease restrictions in exon 9 (TaqI). The data were analyzed using an independent t-test and Fisher’s exact test. The odds ratio (OR) was used to calculate the risk of VDR gene polymorphism in CP. Results: VDR gene polymorphism was detected in patients with CP and a TT genotype (86.4%), Tt genotype (12.4%), and tt genotype (1.2%). The case group with TT and Tt genotypes had an OR of 12.5 (95% CI:1.6–99.8) of having CP compared to the control group (P<0.05).Conclusions: VDR gene polymorphisms (the TT and Tt genotypes) are risk factors associated with individual susceptibility to CP.
How Much Time Do Midwives Spend on Antenatal Care? Assessment of Antenatal Care (ANC) in Six Districts/cities of West Java-indonesia
Authors: Dewi Evindiyah Prita , Sjaaf Amal Chalik , Boerman Baequni
Published: August 2021

Background: The government makes various policies to improve the health of pregnant women, which in turn has an impact on reducing maternal mortality and infant mortality. Antenatal care (ANC) is the most important strategy to improve the health of pregnant women. Distric/city governments must ensure the availability of antenatal services for their communities in primary health facilities (PHF). Midwives are the primary provider of antenatal care at PHF. This study describes the time required for midwives to provide standardized antenatal care.Methods: This study was a time study method, which analyzes the average time of ANC Services by midwives in PHF. The study observed fifty-eight midwives who gave ANC services to five hundred fifty-two pregnant women in six districts in West Java. The data collection was carried out in January-February 2019.Results: In this study, it was found that the time to ANC varied widely; for ANC-I, the average is 30.34 minutes (Min 25 minutes- Max 50 minutes; lower mean 56,7%), ANC-II 23.12 minutes (Min 17 minutes - Max 36 minutes; Lower mean 63,5%), and ANC-T 26.9 minutes (Min 23 minutes - Max 35 minutes; lower mean 53,2%). The order of service time is as follows: ANC-I, ANC-T and ANC-II.Conclusions: The time used for ANC is still significantly less than that recommended by the WHO for pregnant women's visits (40 minutes per visit). The reason will undoubtedly affect the quality of ANC services. It is hoped that District/City Administrative and Health Authorities will pay more attention to the duration time of ANC visits by developing a standard time of visit per patient or increasing the number of midwives in carrying out ANC services at that location.
Children with Strabismus and Amblyopia Presented Abnormal Spontaneous Brain Activities Measured Through Fractional Amplitude of Low-Frequency Fluctuation (fALFF)
Authors: Liu Li-Qi , Shi Yi-Dan , Liang Rong-Bin , Ge Qian-Min , Li Qiu-Yu , Pan Yi-Cong , Shu Hui-Ye , Zhang Li-Juan , Shao YI
Published: August 2021

Purpose

Based on fMRI technology, we explored whether children with strabismus and amblyopia (SA) showed significant alteration in fractional amplitude of low-frequency fluctuation (fALFF) values in specific brain regions compared with healthy controls, and whether this change could indicate the clinical manifestations and pathogenesis of children with strabismus to a certain extent.
Methods

23 children with strabismus amblyopia and same number matched healthy control was registered in the ophthalmology department of the First Affiliated Hospital of Nanchang University, and the whole brain was scanned by rs-fMRI. The fALFF value of each brain area was derived to explore whether there is a statistical difference in the two groups. Meanwhile, ROC curve was made in a view to evaluate whether this difference is of value as a diagnostic index. Finally, analyze whether the changes in the fALFF value of some specific brain regions are related to clinical manifestations
Results

report to HCs children with SA presented a decreased fALFF values in left temporal pole: the superior temporal gyrus, right middle temporal gyrus, right superior frontal gyrus, right supplementary motor area. Meanwhile, they also showed higher fALFF values in specific brain areas, which included left precentral gyrus, left inferior Parietal, left Precuneus.
Conclusion

Children with SA showed abnormal fALFF values in different brain regions. Most of these regions were allocated to the visual formation pathway. The eye movement-related pathway or other visual-related pathways, suggesting the pathological mechanism of the patient.
D-Dimer Level Significance for Deep Vein Thrombosis Screening in The Third Trimester : A Retrospective Study
Authors: Miyamoto Keisuke , Komatsu Hiroaki , Okawa Masayo , Iida Yuki , Osaku Daiken , Azuma Yukihiro , Tsuneto Takako , Harada Takashi , Taniguchi Fuminori , Harada Tasuku
Published: August 2021

BackgroundVenous thromboembolism often develops after surgery and childbirth, resulting in death in some cases. Although early deep vein thrombosis (DVT) detection can predict pulmonary thromboembolism, there is no early screening method for DVT in pregnant women. Lack of consensus regarding significance or setting and cut-off value interpretation of D-dimer levels further impedes venous thromboembolism screening in pregnant women.This study aimed to examine the utility of third-trimester serum D-dimer levels for screening test for DVT during pregnancy.to determine the frequency of asymptomatic DVT using lower-limb compression ultrasonography.MethodsThis single-center retrospective study included 497 pregnant women who underwent elective cesarean section at term in our hospital between January 2013 and December 2019. Serum D-dimer levels were preoperatively measured at 32–37 gestation weeks. The presence or absence of DVT in patients with serum D-dimer levels ≥ 3.0 µg/ml, the cut-off value, was examined using compression ultrasonography. In all patients, the presence or absence of clinical venous thrombosis (symptoms such as lower-limb pain, swelling, and heat sensation) was examined within 4 postoperative weeks.The Royal College of Obstetricians and Gynecologists Guideline 2015 was referred to determine risk factors for the onset of venous thrombosis during pregnancy. Among those, we examined the risk factors for DVT that result in high D-dimer levels during pregnancy.ResultsThe median age and body mass index were 35 (20–47) years and 21.2 (16.4–41.1) kg/m2, respectively. Further, the median gestational age and D-dimer levels were 37 weeks and 2.1 (0.2–16.0) µg/ml, respectively. Compression ultrasonography was performed on 135 (26.5%) patients with a D-dimer level ≥3.0 µg/ml, with none of the patients showing DVT. All patients were followed up for 4 postoperative weeks, with none presenting with venous thromboembolism. Multivariate analysis showed that hypertensive disorders of pregnancy is an independent risk factor for venous thromboembolism that causes high D-dimer levels (odds ratio: 2.48, 95% confidence interval: 1.05–6.50, P=0.04).ConclusionThere may be low utility in screening for DVT using D-dimer levels in the third trimester. Further, prepartum asymptomatic DVT has a low frequency, indicating the low utility of compression ultrasonography.Trial registrationInstitutional Review Board of Tottori University Hospital (IRB no. 20A149).
Interaction and transformation of metastable defects in intercalation materials
Authors: Gorobtsov Oleg , Hirsh Hayley , Zhang Minghao , Sheyfer Dina , Matson Stephanie , Weinstock Daniel , Bouck Ryan , Wang Ziyi , Cha Wonsuk , Maser Jorg , Harder Ross , Meng Ying Shirley , Singer Andrej
Published: August 2021

Non-equilibrium defects often dictate macroscopic functional properties of materials. In intercalation hosts, widely used in rechargeable batteries, high-dimensional defects largely define reversibility and kinetics. However, transient defects briefly appearing during ionic transport have been challenging to capture, limiting the understanding of their life cycle and impact. Here, we overcome this challenge and track operando the interaction and impact of metastable defects within NaxNi1-xMnyO2 intercalation hosts in a charging sodium-ion battery. Three-dimensional coherent X-ray imaging reveals transformation and self-healing of a metastable domain boundary, glissile dislocation loop, and stacking fault. A local strain gradient suggests a quantifiable difference in ion diffusion, coincident with the macroscopic change in diffusion coefficient. Analysis of the unexpected defect anisotropy highlights the importance of mesostructure, suggesting a possible control approach and disputing the rigidity of the framework layers. The shared nature of oxygen framework layers makes our results applicable to a wide range of intercalation materials.
REV7/FANCV Binds to CAMP and Promotes Homologous Recombination Repair
Authors: Li Feng , Sarangi Prabha , Feng Hanrong , Moreau Lisa , Nguyen Huy , Clairmont Connor , D'Andrea Alan
Published: August 2021

A critical determinant of DNA repair pathway choice is the HORMA protein REV7, a small abundant adaptor which binds to various DNA repair proteins through its C-terminal seatbelt domain. The REV7 seatbelt binds to the REV3 polymerase to form the Polymerase ζ complex, a positive regulator of translesion synthesis (TLS) repair. Alternatively, the REV7 seatbelt binds to SHLD3 in the Shieldin complex, a positive regulator of NHEJ repair. Recent studies have identified another novel REV7 seatbelt-binding protein, CAMP (Chromosome Alignment-Maintaining Phosphoprotein), though its role in DNA repair is unknown. Here, we show that the REV7-CAMP complex promotes homologous recombination (HR) repair by sequestering REV7 from the Shieldin complex. CAMP competes directly with the SHLD3 subunit of the Shieldin complex for a limited pool of C-REV7, thereby inhibiting the REV7-mediated recruitment of the SHLD2 and SHLD1 effector subunits to DNA double strand breaks. CAMP thereby channels DNA repair away from error-prone NHEJ and towards the competing error-free HR pathway. Similarly, CAMP competes with the REV3 component of the POL-Zeta complex, thereby reducing the level of mutagenic TLS repair. CAMP has a distinct function in promoting chromosome alignment which is independent of its REV7 binding activity. Importantly, in human tumors, CAMP overexpression promotes HR, confers PARP inhibitor resistance, and correlates with poor prognosis. Thus, by binding to either REV3, SHLD3, or CAMP through its seatbelt, the REV7 protein can promote either TLS repair, NHEJ repair, or HR repair respectively.
Gene Expression Analysis of Resistant and Susceptible Rice Cultivars to Sheath Blight after Inoculation with Rhizoctonia Solani
Authors: Yang Xiaohe , Gu Xin , Ding Junjie , Yao Liangliang , Gao Xuedong , Zhang Maoming , Meng Qingying , Wei Songhong , Fu Junfan
Published: August 2021

Background: Rice sheath blight, caused by Rhizoctonia solani Kühn (teleomorph: Thanatephorus cucumeris), is one of the most severe diseases in rice (Oryza sativa L.) worldwide. Studies on resistance genes and resistance mechanisms of rice sheath blight has mainly focused on indica rice. Rice sheath blight is a growing threat to rice production with the increasing planting area of japonica rice in Northeast China, and it is therefore essential to explore the mechanism of sheath blight resistance in this rice subspecies.Results: In this study, RNA-seq technology was used to analyse the gene expression changes of leaf sheath inoculation with R. solani at 12, 24, 36, 48, and 72 h after inoculation of the resistant cultivar ‘Shennong 9819’ and susceptible cultivar ‘Yueguang’. A total of 2275 differentially expressed genes (DEGs) were identified in our study. Gene Ontology (GO) annotation and Kyoto Encyclopaedia of Genes and Genomes (KEGG) enrichment analysis of these DEGs showed that the metabolic pathways of the two rice cultivars were similar and approximately covered most of the biological processes after inoculation with R. solani. Conclusion: The main differences between the resistant and susceptible cultivars were the activity of DEGs in response to R. solani and the enrichment of metabolic pathways involved in these genes. Upon experiencing external stress, the genes in the leaf sheath of Shennong 9819 showed a fluctuating response, whereas the genes in the leaf sheath of Yueguang had a higher activity. The phenylalanine metabolism and plant hormone signal transduction play important roles in disease resistance. Their response in the leaf sheath of Shennong 9819 was faster than that of Yueguang, and they were highly enriched at 12 h after inoculation.
A Novel Model To Predict Endometriosis in Patients with Ovarian Cysts: A Retrospective Study.
Authors: Xiang Junmiao , Shen Wei , Liang Zongwen , Zhang Qiong , Duan Ping
Published: August 2021

ObjectiveTo develop a model that uses hematological indexes and clinical characteristics to help estimate the probability of endometriosis in patients with ovarian cysts.MethodsA retrospective study was conducted on 2242 patients who underwent surgery for benign ovarian cysts from January 2008 to November 2016. Variables included in the model were serum tumor markers, blood routine test, age, BMI, reproductive history, history of hysteroscopy, menstrual episodes. Logistic regression was used to construct a predictive model for endometriosis, Receiver Operating Characteristic curves and the areas under the curve was used to verify the model’s validities. Ten-fold cross-validation was primarily used as an internal validation to evaluate the prediction accuracies of the model. Normalized mean square errors (NMSE) was obtained to compare the reliability of different models.Results978 (43.6%) patients with endometriosis were included in the strudy. Univariate analysis showed that age, BMI, delivery, dysmenorrhea, menstrual cycle, duration of menstrual flow, history of hysteroscopy, CA-125 and CA-19-9 (P < 0.001) are associated with endometriosis. The area under the receiver operating characteristic curve for the model with CA-125 alone was 0.888, with a sensitivity of 81.6% and specificity of 83.5%. After adjustment for other multiple covariates, including age, mature delivery, irregular menstruation, dysmenorrhea, menstrual period, history of hysteroscopy, CEA, CA-19-9, monocyte count, platelet count, the model obtained had an AUC of 0.916, with a sensitivity of 0.849 and specificity of 0.864.ConclusionsThe diagnostic prediction model can be used as a framework for potential improvement in diagnosis of endometriosis in patient with ovarian cyst.
A Novel Homozygous USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature
Authors: GEZDIRICI ALPER , ŞENGÜL ÖZLEM KALAYCIK , DOĞAN MUSTAFA , ÖZGÜVEN BANU YILMAZ , AKBULUT EKREM
Published: August 2021

Background: Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers a useful approach to differentiate different types of cholestasis because some symptoms and findings overlap. Biallelic variants in USP53 have recently been reported in cholestasis phenotype. In this study we aim to characterize clinical findings and biological insights on a novel USP53 splice variant causing cholestasis phenotype and review of the literature. Methods and Results: We reported a novel splice variant (NM_019050.2:c.238-1G>C) in the USP53 gene via whole exome sequencing in a patient with cholestasis phenotype. This variant was confirmed by sanger sequencing and as a result of family segregation analysis; it was found to be a heterozygous state in the parents and the other healthy elder brother of our patient. According to in-silico analyses; the change in the splice region resulted in an increase in the length of exon 1, whereas the stop codon after the additional 3 amino acids (VTF) caused the protein to terminate prematurely. Thus, the mature USP53 protein, consisting of 1.073 amino acids, has been reduced to a small protein of 82 amino acids.Conclusions: We propose a model for the tertiary structure of USP53 for the first time, together with all these data, we support the association of biallelic variants of the USP53 gene with the cholestasis phenotype. We also presented a comparison of previously reported patients with the USP53-associated cholestasis phenotype to contribute to the literature.
MYO5B Novel Homozygous Variant c.2090+3A>T Causes Intron Retention and is Related To Severe Cholestasis and Intractable Diarrhea
Authors: Zheng Yu , Peng Yuming , Zhang Shuju , Peng Yu , Zhao Hongmei , Chen Weijian , Yang Yongjia , Li Liping , Yin Qiang
Published: August 2021

Background

Myosin Vb (MYO5B) plays an important role in protein trafficking and recycling. Biallelic mutated MYO5B has been found related to microvillus inclusion disease (MVID) or predominant cholestatic liver disease or mixed the two diseases. This study aims to clarify the splicing alteration and associated clinical or pathological features of a newly identified homozygous variant, and thus to provide supporting information for disease mechanism and clinical treatment.
Results

Here we identified a novel homozygous variant c.2090 + 3A > T by exome sequencing in a female patient. Minigene assay using recombined vectors and cell transfection found 185bp intention of intron 17 in the mRNA, which was predicted a pre-termination of myoVb (p.Arg697fs*47) at the end of the head motor domain. Further bowel biopsies via immunohistochemistry and the electron microscope detected decreased microvillus and local lesion of microvillus inclusion in the mucosa of duodena. The patient presented intractable diarrhea alleviated from severe in early life to mild later. She also had congenital cholestasis, liver cirrhosis, cholelithiasis, hepatic cyst, corneal opacity, and failure to thrive. Medicines were supplied to alleviate symptoms, maintain her intestines and nutrition. Liver transplantation would be the final choice.
Conclusions

Our study reported a novel homozygous variant that altered splicing and further supported the underlying mechanism that led to complicated enterohepatic phenotypes. The results expanded clinical practice in understanding the genotype-phenotype correlation of MYO5B and associated disease management.
An Ethnobotanical and Ethnomedicinal Investigation of Phytomedical Knowledge and Practice of Medicinal Plants in Lingchuan County, Shanxi, China
Authors: Jin Shan , Zhang Shanshan , Shad Nasir , Naeem Abid , Yang Yandeng , Wu Shuaikai
Published: August 2021

BackgroundLingchuan County is the main producing area of Chinese medicinal materials in Shanxi Province, rich in medicinal plant resources. The aboriginal residents of Lingchuan County have certain traditional knowledge and experience in the use of medicinal plants and can effectively use medicinal plants to treat common diseases. MethodologyA field survey in 53 villages was carried out over one year, i.e., November 2017—August 2018. Ethnomedicinal data was collected through designed questionaries/interviews by involving 180 informants familiar with medicinal plants utilization. Documented data were evaluated using the quantitative indices. ResultsA total of 138 traditional medicinal plants were investigated, belonging to 123 genera of 60 families. Among them, Asteraceae was the dominant plant family with 19 species. Roots were the most commonly used plant parts, and the dominant life form was herbs. Quantitative analysis revealed that Forsythia suspensa was with higher (0.33) RFC value, and Scutellaria baicalensis was recorded with higher (0.91) UV. Treated diseases were categorized in 12 groups and evaluated by their FIC value, in which gynecological diseases having higher (0.93) FIC value followed by urinary system diseases. The most medicinal plants are used to clear away heat and relieve the surface. At the same time, people use boiled water to use medicinal plants. Most of the plants investigated are non-toxic. ConclusionThis study reported traditional herbal medicines for the first time to be used against various disorders in Lingchuan County, China and are still practiced by the local communities. Some of the new ethnobotanical claims documented in this investigation should need to be further explored clinically. The medicinal plants with the highest use values recorded in this study may signpost the probable existence of valuable phytochemical compounds that requires a search for prospective new drugs to cure many human disorders.
Family Support-Based Intervention Using A Mobile Application By Pharmacists For Older Adults With Diabetes: A Randomised Controlled Trial
Authors: Poonprapai Potjana , Lerkiatbundit Sanguan , Saengcharoen Woranuch -
Published: August 2021

Background Family support is crucial in the care of elderly patients with diabetes. Pharmacists have proven to play an important role in assisting patients to achieve goals of drug therapy. However, more information is needed to evaluate the potential benefits of family-based intervention through a mobile application by pharmacists in the elderly diabetes patients.Objective To evaluate the influences of family support-based intervention using a mobile application on glycaemic control and diabetes control-related outcomes in the older adults with diabetes. Setting A hospital in the south of Thailand.Method A randomised controlled trial was conducted with 9 months of follow-up. Family members in the intervention group (n = 78) received diabetes educational courses and encouragement via a mobile application from pharmacists to help their elderly relatives with diabetes in self-management tasks. The control group received usual care (n = 79). Main outcome measure Glycosylated haemoglobin (HbA1c).Results As compared to baseline, significant improvements were observed in the intervention patients for HbA1c, blood pressure, family behaviour in diabetes care, diabetes knowledge, self-management practices and medication adherence (P < 0.001). The intervention group showed greater decline in HbA1c levels relative to the control group (-0.97% vs. -0.12%; P = 0.001). Significant differences between groups for changes in blood pressure levels including scores of family behaviour, diabetes knowledge, self-management and medication adherence were found (P < 0.001), with the intervention group showing greater improvement. Conclusion Family support intervention via a mobile application by pharmacists is beneficial to diabetes care for the elderly. Trial registration number: TCTR20200615001 (date 13 June 2020, retrospectively registered).
Vitamin D Receptor Gene FokI Polymorphism Contributes to Increasing the Risk of Tuberculosis: Evidence from a Meta-Analysis
Authors: Li Bin , Li Yunxia , Wen Fei , Wang Zhaofen
Published: August 2021

Purpose In the present study, we explored the link between vitamin D receptor (VDR) FokI gene polymorphisms with tuberculosis(TB). Methods Based on a comprehensive search of PubMed, Embase, Web of Science, Elsevier Science Direct, Cochrane Library, CNKI, Wanfang, and Chongqing VIP databases, we searched case-control study on FokI gene polymor-phism and TB susceptivity. The Newcastle-Ottawa Scale(NOS) was used to evaluate the quality of the literature and extracted data, and R 4.0.5 software was used for the meta-analysis. Results: Among the 243 selected articles, 35 in the meta analysis. The meta-analysis showed that the FokI gene polymorphism allene gene model(f vs F, Odds ratio=1.22,95% confidence interval:1.11-1.36); dominant model (ff+fF vs F, Odds ratio=1.29,95% confidence interval:1.13-1.47); recessive model(ff vs fF+FF, Odds ratio=1.31,95% confidence interval:1.09-1.56); codominant (ff vs FF, Odds ra-tio=1.48,95% confidence interval:1.19-1.83); codominant(fF vs FF, Odds ratio=1.23,95% confidence interval:1.09-1.39). The meta-analysis indicates a high level of heterogeneity between the VDR FokI gene polymorphism and TB and the race is a source of heterogeneity in the results. Conclusion The present update meta-analysis suggest that FokI gene polymorphism is significantly associated with an increased risk of TB.
Original Article (Clinical Investigation) Enhanced Prediction of Renal Function Decline by Replacing Waist Circumference With “a Body Shape Index (Absi)” in Diagnosing Metabolic Syndrome: A Retrospective Cohort Study in Japan
Authors: Nagayama Daiji , Fujishiro Kentaro , Tsuda Shinichi , Watanabe Yasuhiro , Yamaguchi Takashi , Suzuki Kenji , Saiki Atsuhito , Shirai Kohji
Published: August 2021

Background: Abdominal obesity as a risk factor for diagnosing metabolic syndrome (MetS) is conventionally evaluated using waist circumference (WC), although WC does not necessarily reflect visceral adiposity. We aimed to examine whether replacing WC with “A Body Shape Index (ABSI)”, an abdominal obesity index, in MetS diagnosis is useful for predicting renal function decline (RFD). Methods: A retrospective cohort study was conducted in 5438 Japanese urban residents (median age 48 years) who participated in a public health screening program for 4 consecutive years. Systemic arterial stiffness was assessed by cardio-ankle vascular index (CAVI), and high CAVI was defined as CAVI ≥ 9.0. The predictability of the occurrence of RFD (eGFR < 60 mL/min/1.73m 2 ) by replacing high WC with high ABSI (ABSI ≥ 0.080) was examined using three sets of MetS diagnostic criteria: Japanese, International Diabetes Federation (IDF) and National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATPIII). Results: In Japanese and NCEP-ATPIII criteria, MetS diagnosed using ABSI (ABSI-MetS) was associated with significantly higher age-adjusted CAVI compared to non-MetS, whereas MetS diagnosed using WC (WC-MetS) showed no association. Kaplan-Meier analysis of the rate of new-onset RFD over 4 years (total 8.7%) showed remarkable higher rate in subjects with ABSIMetS than in those without (log-rank test p <0.001), but almost no difference between subjects with and without WC-MetS ( p = 0.014-0.617). In Cox analysis including gender, high CAVI and low-density lipoprotein‒cholesterol ≥140 mg/dL as confounders, only ABSI-MetS diagnosed by Japanese criteria contributed independently to the occurrence of RFD (HR = 1.41, p = 0.011). High CAVI was also an independent contributor to the occurrence of RFD. In a subanalysis, ABSI-MetS diagnosed by Japanese criteria contributed significantly to the occurrence of RFD regardless of age or gender, while WC-MetS by Japanese criteria contributed significantly only in older women. Conclusion: In this study, replacing WC with ABSI in MetS diagnostic criteria more efficiently predicted subjects at risk of RFD and arterial stiffening. Further studies are needed to confirm whether MetS diagnosed using ABSI also predicts CVD.
Evidence of Climate Change Impact on Parkinson’s Disease
Authors: Buizza Roberto , Carratore Renata Del , Bongioanni Paolo
Published: August 2021

We have investigated the link between climate change and Parkinson’s diseases (PD) by contrasting variations between 1990 and 2016 of PD patients’ indices (prevalence, deaths, and disability-adjusted life years) and climate indices (warming and annual average temperature) for 185 countries. Countries have been clustered in four categories, depending on whether they had higher-than-median warming and higher-than-median temperature, and for each cluster variations in PD patients’ and climate indices have been studied. In the cluster of the 25 countries (home to about 900 million people) characterized by higher-than-average warming and higher-than-average temperature, we have found evidence of a correlation between more intense warming and higher variations. This statistical result is discussed and linked to other evidence reported in literature. To our knowledge, this is the first time that a statistically-sound link between climate change and the epidemiological data of PD patients has been found and documented.
A Customized Mask Retainer and Its Effects on Improving the Fit Performance of Surgical Masks
Authors: Chen Xi , Xi Qi , Lu Wei , Sun Fangfang , Wang Lirong , Zhang Li , Wu Guofeng
Published: August 2021

Background: With the outbreak of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the effectiveness of providing mask protection is important for people. This article introduces a customized mask retainer to improve the fit performance of face masks.Methods: The participant’s 3D face scans with and without a surgical mask were taken by using a 3D face scanner. The fitter was designed on the 3D face scan data according to the facial anthropometric landmarks, and examined and adjusted on the face scan data with a mask. The fitter was 3D printed using a metal printer for Titanium. The effectiveness of the fitter on augmentation of fit of surgical mask was test according to the Chinese Standard. Tests were repeated three times per participant, and compare differences between groups by Wilcoxon Matched-Pairs Signed-Ranks Test using software (a=.05).Results: The effectiveness test of the retainer on augmentation of fit performance showed a result more than 25-fold increase of overall Fit Factor, which have met the fit requirement for KN95 respirators in China.Conclusions: Fit Factor results indicated that by using the retainer, the Fit Factors of overall and each exercise have significantly increased as compared to that of face mask alone group. It may provide a solution to the shortage of N95 respirators the world is now encountering as fighting against the COVID-19 epidemic.
Prenatal Diagnosis of Complete Paternal Uniparental Isodisomy for Chromosome 3: A Case Report
Authors: bu xiufen , Li Xu , Zhou Shihao , Shi Liangcheng , Jiang Xuanyu , Peng Can , Li Hongyu , He Jun
Published: August 2021

Background Paternal uniparental disomy (UPD) of chromosome 3 is a very rare condition. At present, only 5 cases of paternal UPD(3) has been reported. This was the second ascertained paternal UPD(3) with no apparent disease phenotype.Case presentation We hereby reported a case of a fetus with normal karyotype and normal ultrasound features at the whole gestation. A copy neutral regions of homozygosity on chromosome 3 was indentified by Single Nucleotide Polymophism array (SNP array). Subsequent SNP array data of parent–child trios showed the fetus has carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue the pregnancy after genetic counseling. The neonate had normal physical findings at birth and develops normally after 1.5 years. Conclusions The findings could provide further evidence to confirm that there was no important imprinted genes causing serious diseases on paternal chromosome 3 and provided a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.