Publications by authors named "Na Lin"

468 Publications

Genetic mapping and physiological analysis of chlorophyll-deficient mutant in Brassica napus L.

BMC Plant Biol 2022 May 18;22(1):244. Epub 2022 May 18.

College of Agronomy and Biotechnology, Southwest University, Beibei, Chongqing, 400715, PR China.

Background: Leaf color mutants have reduced photosynthetic efficiency, which has severely negative impacts on crop growth and economic product yield. There are different chlorophyll mutants in Arabidopsis and crops that can be used for genetic control and molecular mechanism studies of chlorophyll biosynthesis, chloroplast development and photoefficiency. Chlorophyll mutants in Brassica napus are mostly used for mapping and location research but are rarely used for physiological research. The chlorophyll-deficient mutant in this experiment were both genetically mapped and physiologically analyzed.

Results: In this study, yellow leaf mutant of Brassica napus L. mutated by ethyl methyl sulfone (EMS) had significantly lower chlorophyll a, b and carotenoid contents than the wild type, and the net photosynthetic efficiency, stomatal conductance and transpiration rate were all significantly reduced. The mutant had sparse chloroplast distribution and weak autofluorescence. The granule stacks were reduced, and the shape was extremely irregular, with more broken stromal lamella. Transcriptome data analysis enriched the differentially expressed genes mainly in phenylpropane and sugar metabolism. The mutant was mapped to a 2.72 Mb region on A01 by using BSA-Seq, and the region was validated by SSR markers.

Conclusions: The mutant chlorophyll content and photosynthetic efficiency were significantly reduced compared with those of the wild type. Abnormal chloroplasts and thylakoids less connected to the stroma lamella appeared in the mutant. This work on the mutant will facilitate the process of cloning the BnaA01.cd gene and provide more genetic and physiological information concerning chloroplast development in Brassica napus.
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http://dx.doi.org/10.1186/s12870-022-03630-9DOI Listing
May 2022

An Open, Prospective Cohort Study of VV116 in Chinese Participants Infected with SARS-CoV-2 Omicron Variants.

Emerg Microbes Infect 2022 May 17:1-22. Epub 2022 May 17.

Department of Respiratory Diseases, Shanghai Public Health Clinical Center, Fudan University, Shanghai, China.

Omicron variant of SARS-CoV-2 has become the predominant variant worldwide. VV116 is an oral drug with robust anti-SARS-CoV-2 efficacy in preclinical studies. We conducted an open, prospective cohort study to evaluate its safety and effectiveness in Chinese participants infected with SARS-CoV-2 omicron variant from March 8th, 2022 to Marth 24th, 2022. 136 patients hospitalized patients confirmed with COVID-19 were enrolled in this study, including 60 patients who received VV116 (300mg, BID×5 days) in the treatment group and 76 patients who didn't receive VV116 in the control group besides standard treatment. Viral load shedding time and adverse events were collected during the follow-up. There was no significant difference in baseline characteristics between the VV116 group and the control group, except for a higher prevalence of symptoms in the control group (P=0.021). The median time from the first positive test to the first VV116 administration was 5 (range: 2-10) days. Participants who received VV116 within 5 days since the first positive test had a shorter viral shedding time than the control group (8.56 vs 11.13 days), and cox regression analysis showed adjusted HR of 2.37 [95%CI 1.50-3.75], <0.001). In symptomatic subgroup participants, VV116 group had a shorter viral shedding time than the control group (=0.016). A total of 9 adverse events with no serious adverse events were reported in the VV116 group, 7 of which were mild liver function abnormalities, and all of them were resolved without intervention. VV116 is a safe, effective oral antiviral drug, which shows a better performance within the early onset of omicron infection. ClinicalTrials.gov NCT05242042 ClinicalTrials.gov NCT05279235 ClinicalTrials.gov NCT05341609
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http://dx.doi.org/10.1080/22221751.2022.2078230DOI Listing
May 2022

RNF38 suppress growth and metastasis via ubiquitination of ACTN4 in nasopharyngeal carcinoma.

BMC Cancer 2022 May 15;22(1):549. Epub 2022 May 15.

Laboratory of Immuno-Oncology, Fujian Cancer Hospital, Fuzhou, 350014, China.

Background: Accumulated evidence suggests that RING finger proteins (RNFs) are involved in the carcinogenesis of cancers. However, RNF38, a member of the RNF protein family, has not been studied in nasopharyngeal carcinoma (NPC).

Methods: RNF38 expression was analyzed by RT-PCR, Western blotting and Immunohistochemistry. Biological functions of RNF38 were evaluated by cell growth, colony formation, apoptosis, migration and invasion assays in vitro. Xenograft growth and lung metastasis models were conducted to investigate the effect of RNF38 in vivo. Liquid chromatography coupled with tandem mass spectrometry, co-immunoprecipitation, and CHX assay were implemented to detect the interaction among RNF38 and ACTN4.

Results: RNF38 was significantly downregulated in NPC cells and tissues. Immunohistochemistry implied that loss of RNF38 was an independent prognostic factor for poor outcomes of NPC patients. Gain- and loss-of-function experiments showed that RNF38 inhibited proliferation and metastasis in NPC in vitro and in vivo. Upregulation of RNF38 promoted apoptosis of NPC cells to etoposide but not cisplatin. ACTN4 was upregulated in NPC and negatively correlated with RNF38. Mechanistic investigations suggested that RNF38 inactivates the NF-𝛋B and ERK1/2 signaling pathways by inducing ubiquitination and degradation of ACTN4. RNF38 suppress the development of NPC by interacting with ACTN4.

Conclusions: RNF38 plays a potential cancer suppressor gene role in NPC tumorigenesis and is a prognostic biomarker in NPC.
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http://dx.doi.org/10.1186/s12885-022-09641-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107765PMC
May 2022

Scorpion Venom Polypeptide Inhibits Pulmonary Epithelial-Mesenchymal Transition in Systemic Sclerosis-Interstitial Lung Disease Model Mice by Intervening TGF-1/Smad Signaling Pathway.

Evid Based Complement Alternat Med 2022 13;2022:6557486. Epub 2022 Apr 13.

Department of Rheumatism and Immunology, The First Affiliated Hospital of Zhejiang Chinese Medical University/Zhejiang Provincial Hospital of Traditional Chinese Medicine, No. 54 Youdian Road Shangcheng District, Hangzhou, Zhejiang 310006, China.

Objective: Interstitial lung disease (ILD) is an important complication of systemic sclerosis (SSc). The aim of this study was to investigate the effect and possible mechanism of polypeptide extract of scorpion venom (PESV) on SSc-ILD.

Methods: C57/BL6 mice were injected with bleomycin to establish a SSc-ILD model. Different concentrations of PESV solution were administered to SSc-ILD mice, and dexamethasone was used as a positive control. H&E staining and Masson staining were used to observe the pathological changes. The TGF-1 expression level was detected by immunohistochemistry. The expression of epithelial-mesenchymal transition (EMT)-related proteins was detected by Western blot, and the expression of TGF-1/Smad pathway-related proteins was also detected. The content of inflammatory cytokines in serum and BALF was determined by ELISA.

Results: Pathological analysis showed that PESV could alleviate SSc-ILD-induced pulmonary inflammation and fibrosis. Compared with the model group, the content of inflammatory cytokines IL-6 and TNF- significantly decreased after PESV treatment. PESV could increase the expression of epithelial marker (E-cadherin) and reduce the expression of interstitial markers (collagen I, vimentin, N-cadherin, and a-SMA). In addition, PESV could reduce the expression level of TGF-1/Smad pathway-related protein.

Conclusion: PESV can attenuate SSc-ILD by regulating EMT, and the effect was linked to the TGF-1/Smad signaling pathway, which indicated that PESV may serve as a candidate drug for SSc-ILD.
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http://dx.doi.org/10.1155/2022/6557486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020946PMC
April 2022

Immunomodulatory effects of the polysaccharide from on RAW264.7 macrophage cells.

Food Sci Nutr 2022 Apr 25;10(4):1093-1102. Epub 2022 Jan 25.

East China Sea Fishery Research Institute Chinese Academy of Fishery Sciences Shanghai China.

This study aimed to evaluate the immunomodulatory effect of the polysaccharide from (SCP-1-1) in RAW264.7 cells. SCP-1-1 with a molecular weight of 440.0 kDa consisted of glucose and mannose. The immunomodulatory assay results showed that SCP-1-1 could significantly enhance phagocytic ability, NO production, and some cytokines (TNF-α, IL-6, and IL-1β) secretion of RAW264.7 cell in a dose-dependent manner. Western blot analysis results demonstrated that SCP-1-1 could regulate the expression levels of the key proteins in the signaling pathways of RAW264.7 cell and might associated with NF-κβ and PI3K signaling pathway. These findings could contribute to elucidate the immunomodulatory activities of the polysaccharide from .
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http://dx.doi.org/10.1002/fsn3.2735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007286PMC
April 2022

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center.

J Transl Med 2022 04 9;20(1):168. Epub 2022 Apr 9.

Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Background: The etiology of fetal growth restriction (FGR) is complex and currently, there is a paucity of research about the genetic etiology of fetal growth restriction. We investigated the genetic associations and pregnancy outcomes in cases of fetal growth restriction.

Methods: A retrospective analysis of 210 pregnant women with fetal growth restriction was performed using karyotype analysis and single nucleotide polymorphism arrays (SNP-array). The differences in pathogenic copy number variation (CNV) detected by the two methods were compared. At the same time, the fetuses were divided into three groups: isolated FGR (n = 117), FGR with ultrasonographic soft markers (n = 48), and FGR with ultrasonographic structural anomalies (n = 45). Further, the differences in pathogenic copy number variations were compared among the groups.

Results: The total detection rate of pathogenic CNVs was 12.4% (26/210). Pathogenic copy number variation was detected in 14 cases (6.7%, 14/210) by karyotype analysis. Furthermore, 25 cases (11.9%, 25/210) with pathogenic CNVs were detected using the SNP-array evaluation method. The difference in the pathogenic CNV detection rate between the two methods was statistically significant. The result of the karyotype analysis and SNP-array evaluation was inconsistent for 13 cases with pathogenic CNV. The rate of detecting pathogenic CNVs in fetuses with isolated FGR, FGR combined with ultrasonographic soft markers, and FGR combined with ultrasonographic structural malformations was 6.0, 10.4, and 31.1%, respectively, with significant differences among the groups. During the follow-up, 35 pregnancies were terminated, two abortions occurred, and 13 cases were lost to follow-up. Of the 160 deliveries, nine fetuses had adverse pregnancy outcomes, and the remaining 151 had normal postnatal growth and developmental assessments.

Conclusions: Early diagnosis and timely genomic testing for fetal growth restriction can aid in its perinatal prognosis and subsequent intervention.
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http://dx.doi.org/10.1186/s12967-022-03373-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8994287PMC
April 2022

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.

BMC Med Genomics 2022 03 30;15(1):73. Epub 2022 Mar 30.

Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No. 18 Daoshan Road, Fuzhou City, 350001, Fujian Province, China.

Background: Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.

Methods: Data from 131 singleton and 17 twin pregnancies that underwent prenatal CMA testing due to polyhydramnios between May 2017 and May 2021 were reviewed. Enrolled cases were grouped into isolated polyhydramnios (N = 39) and non-isolated polyhydramnios (N = 111). Non-isolated group was further categorized as subgroup of soft markers (n = 59) and non-soft markers (n = 52).

Results: CMA revealed an additional 10 (6.7%) chromosomal aberrations with clinical significance in 9 fetuses from singleton pregnancies and 1 from a twin pregnancy. Six microdeletion/microduplication syndromes were observed, of which 4 were located on chromosome 17. The incremental yields of clinically significant CMA findings in non-isolated polyhydramnios was 8.1%, and the values in fetuses along with soft markers and non-soft markers were 5.1% and 11.5% (p > 0.05), respectively. Only one incidental finding related to neuropathy with liability to pressure palsies was detected from 39 fetuses with isolated polyhydramnios.

Conclusions: Non-isolated polyhydramnios is associated with several microdeletion/microduplication syndromes, regardless of singleton or twin pregnancies. Our results suggest insufficient evidence to recommend CMA in pregnancies with isolated polyhydramnios.
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http://dx.doi.org/10.1186/s12920-022-01224-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966299PMC
March 2022

[Effect of Jianpi Huogu Formula on function damage of vascular endothelial cells induced by glucocorticoid].

Zhongguo Zhong Yao Za Zhi 2022 Mar;47(6):1625-1631

Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences Beijing 100700, China.

This study aimed to observe the intervention effect of Jianpi Huogu Formula(JPHGF) on the functional damage of vascular endothelial cells caused by glucocorticoid, and explore its action mechanism from the PI3 K/Akt and mitogen activated protein kinase(MAPK) signaling pathways. The extracted thoracic aorta ring of normal SD rats were intervened first with vascularendothelial growth factor(VEGF, 20 μg·L-1) and/or sodium succinate(MPS, 0. 04 g·L-1) in vitro and then with JPHGF(8, 16, and 32 μg·L-1) for five mcontinuous ethylpdays, rednisolofollowed nebythe statistics of the number, length, and area of microvessels budding fromvascular rings. In addition, the human umbilical vein endothelial cells(HUVECs) induced by VEGF(20 μg·L-1) were added with MPS(0. 04 g·L-1) and then with JPHGF(8, 16, and 32 μg·L-1) for observing the migration, invasion, and luminal formation abilities of HUVECs in the migration, invasion and luminal formation experiments. The protein expression levels of PI3 K, p-Akt, p-JN K, and p-ERK in HUVECs were assayed by Western blot. The results showed that JPHGF dose-dependently improved the num-ber,length, and area of microvessels in MPS-induced rat thoracic aortic ring, reversed the migration, invasion and lumen formation abiliti es of HUVECs reduced by MPS, and up-regulated the protein expression levels of PI3 K, p-Akt, and p-JNK in HUVECs. All thesehave suggested that JPHGF exerts the protective effect against hormone-induced damage to the angiogenesis of vascular endothelial cells by activating the PI3 K/Akt and MAPK signaling pathways, which has provided reference for exploring the mechanism of JPHGF in treating s teroid-induced avascular necrosis of femoral head(SANFH) and also the experimental evidence for enriching the scientific connotationof spleen-invigorating and blood-activating therapy.
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http://dx.doi.org/10.19540/j.cnki.cjcmm.20211116.401DOI Listing
March 2022

Evolution analysis of () orthologs explored the mutations in DNA coding sequences in the grass family (Poaceae).

PeerJ 2022 11;10:e12880. Epub 2022 Mar 11.

Faculty of Agriculture, Forestry and Food Engineering, Yibin University, Yibin, Sichuan, China.

(), an essential gene that controls spikelet differentiation and development in the grass family (Poaceae), prevents the formation of axillary bud meristems and is closely associated with crop yields. It is unclear whether the gene or its orthologs were selected during the evolutionary process of grass species, which possess diverse spike morphologies. In the present study, we adopted bioinformatics methods for the evolutionary analysis of orthologs in species of the grass family. Thirty-five orthologs with protein sequences identical to that of the gene were identified from 29 grass species. Analysis of conserved domains revealed that the AP2/ERF domains were highly conserved with almost no amino acid mutations. However, species of the tribe Triticeae, genus , and C4 plants exhibited more significant amino acid mutations in the acidic C-terminus region. Results of the phylogenetic analysis showed that the 29 grass species could be classified into three groups, namely, Triticeae, , and C4 plants. Within the Triticeae group, the genes originating from the same genome were classified into the same sub-group. When selection pressure analysis was performed, significant positive selection sites were detected in species of the Triticeae and groups. Our results show that the gene was selected during the grass family's evolutionary process, and functional divergence may have already occurred among the various species. Therefore, researchers investigating the gene's functions should take note of the possible presence of various roles in other grass species.
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http://dx.doi.org/10.7717/peerj.12880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919851PMC
March 2022

Low Endogenous LH on the COS Initiation Day of a GnRH-Agonist Regimen Increases the Risk of Early Pregnancy Loss and Adverse ART Outcomes.

Front Endocrinol (Lausanne) 2022 21;13:830567. Epub 2022 Feb 21.

Department of Reproductive Medicine, The First People's Hospital of Yunnan Province, Kunming, China.

Objective: To assess the impact of serum luteinizing hormone (LH) levels on the day of initiation of controlled ovarian stimulation (COS) after pituitary suppression on early pregnancy loss and assisted reproductive technology (ART) outcomes.

Design: Retrospective cohort study.

Setting: University-affiliated hospital.

Patients: A total of 9540 normogonadotrophic patients were treated with a GnRH agonist for fertilization (IVF). Based on the serum concentration of LH on the COS initiation day, patients were divided into low (<1 mIU/mL, n=2838), medium (1-1.49 mIU/mL, n=3357), or high (≥1.5 mIU/mL, n=3345) LH groups and received either fresh embryo transfer (ET) or frozen ET (women with high ovarian response, insufficient endometrial thickness, or requesting frozen ET). A total of 6279 cycles were fresh ET (1960, 2222, and 2097 in the low, medium, and high LH groups, respectively).

Interventions: During IVF/ICSI, a GnRH agonist was used to suppress pituitary function in the midluteal phase or follicular phase, and then gonadotropin was used to induce COS.

Main Outcome Measures: The early pregnancy loss rate (ePLR) and live-birth rate (LBR) for fresh ET, as well as the cumulative ePLR and LBR for the entire ovarian stimulation cycle, were compared.

Results: In the fresh ET cycles, the high, medium and low LH groups had an ePLR of 8.6%, 11.9% and 12.5%, respectively, and LBR of 42.1%, 37.9% and 37.5%, respectively. There were no significant differences in terms of clinical pregnancy rate (CPR), late pregnancy loss rate (lPLR), and ectopic pregnancy rate (EPR) among the three LH groups. For the entire ovarian stimulation cycle, the high LH group had a greater number of retrieved oocytes compared with the low and medium LH groups. Among the groups of high, medium and low LH, the cumulative CPR were 72.8%, 69.8% and 68.8%, respectively, and the cumulative LBR were 63.4%, 60.4% and 58.5%, respectively. There were no significant differences in the cumulative ePLR, lPLR, or EPR. After multivariable logistic regression, compared with the high LH group, the adjusted odds ratio of early pregnancy loss in the low and medium LH group were 1.429 (1.065-1.919,  = 0.018) and 1.389 (1.041-1.853, = 0.026).

Conclusions: After pituitary suppression by a GnRH-agonist during IVF, a low LH level (<1.5 mIU/mL) on the COS initiation day was associated with adverse ART outcomes-including fewer oocytes, higher ePLR and lower LBR in fresh ET-and lower cumulative CPR and LBR in the entire ovarian-stimulation cycle. And LH on the COS initiation day was an independent factor affecting ePLR after multivariate regression.
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http://dx.doi.org/10.3389/fendo.2022.830567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898906PMC
April 2022

Transcriptome and Lipid Metabolomics-Based Discovery: Glycyrrhizic Acid Alleviates Glycoside Tablet-Induced Acute Liver Injury by Regulating the Activities of CYP and the Metabolism of Phosphoglycerides.

Front Pharmacol 2021 14;12:822154. Epub 2022 Feb 14.

Artemisinin Research Center and Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing, China.

Glycyrrhizic acid (GA) has been reported to be liver protective; however, the characters and underlying mechanisms of GA against tripterygium glycoside tablet (TGT)-induced acute liver injury remain unelucidated. We assumed that GA could relieve TGT-induced acute liver injury by regulating liver function-related genes and lipid metabolites. TGT-induced acute liver injury models were constructed and . Then the liver protective effect and mechanisms of GA were investigated by a combination of transcriptome, lipid metabolomics, and experimental validation. Intraperitoneal injection of GA was given in advance for six successive days. Then, the TGT-induced acute liver injury model was constructed by a single oral administration of TGT at 270 mg/kg, except for the normal group. All animals were sacrificed 18 h later. The serum levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), total bilirubin (TBIL), glutathione peroxidase (GSH-PX), and superoxide dismutase (SOD) were quantified. Liver tissues were used to observe pathological changes through hematoxylin-eosin (HE) staining and selected for transcriptome and metabolome sequencing. The underlying mechanisms were analyzed and further validated both and . Pre-administration of GA markedly decreased the serum concentrations of AST, ALT, ALP, and TBIL but increased those of SOD and GSH-Px, improving the liver morphology of mice with TGT-induced acute liver injury. In addition, GA significantly increased the gene levels of Cyp2b13, Cyp2c69, Cyp3a16, Cyp3a44, Fmo3, and Nipal1. Differentially accumulated metabolites were screened and classified as phosphatidylcholine (PC) and phosphatidylethanolamine (PE). The results indicated that pre-administration of GA markedly alleviated the inhibitory effect of TGT on BRL-3A activity. This study combined transcriptome, lipid metabolomics, and experimental validation to offer convincing evidence that GA alleviates TGT-induced acute liver injury partially by regulating the activities of CYP and the metabolism of PC and PE.
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http://dx.doi.org/10.3389/fphar.2021.822154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883433PMC
February 2022

Chinese patent medicine for osteoporosis: a systematic review and meta-analysis.

Bioengineered 2022 03;13(3):5581-5597

Department of Minimally Invasive Arthrology, The Third Affiliated Hospital of Beijing University of Chinese Medicine, Beijing, China.

Chinese patent medicine (CPM) has been widely used in China for patients with osteoporosis (OP) but a comprehensive literature review is still important. Therefore, we performed meta-analysis using six electronic databases prior to 30 April 2021 only randomized controlled trials (RCTs) using CPM as the first-line treatment in adults with OP were included. Thirty RCTs met the inclusion criteria with a total of 2723 patients, and seven types of CPM were included. Compared with the control group, 23 studies showed significantly improved bone mineral density (BMD) (lumbar spine) (mean difference [MD] = 0.08; confidence interval [CI], 0.03 to 0.13), 15 studies showed significantly improved BMD (femoral) (MD = 0.05; 95% CI, 0.02 to 0.07), 6 studies showed significantly improved BMD (radius) (MD = 0.06; 95% CI, 0.03 to 0.09), 2 trials showed significantly improvement of BMD (ulna) (MD = 0.02; 95% CI, 0.01 to 0.03), and 4 trials showed significantly improved BMD (MD = 0.09; 95% CI, 0.09 to 0.10). The meta-analysis also showed that CPM had superior pain improvement, a higher total effectiveness rate, and a lower risk of adverse events compared with standard western treatment. The findings of this study suggest that CPM therapy may be a safe and effective alternative treatment modality for OP, it has potential benefits in relieving symptoms and improving BMD compared to western medications or placebos.
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http://dx.doi.org/10.1080/21655979.2022.2038941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973707PMC
March 2022

[Biological connotation of four traditional Chinese medicine syndromes of rheumatoid arthritis based on "disease-syndrome-symptom" association network].

Zhongguo Zhong Yao Za Zhi 2022 Feb;47(3):796-806

Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences Beijing 100700, China.

The present study explored the biological connotation of traditional Chinese medicine(TCM) syndromes of rheumatoid arthritis(RA) from the "disease-syndrome-symptom" association network. RA patients with four TCM syndromes(dampness-heat obstruction, phlegm-stasis obstruction, Qi-blood deficiency, and liver and kidney deficiency), three for each type, were assigned as the RA TCM syndrome group, and three healthy volunteers as the normal control group. The differential gene sets of four syndromes were screened out through transcriptome expression profiling and bioinformatics mining. The relevant gene sets of syndrome-related clinical symptoms were collected from TCMIP v2.0(http://www.tcmip.cn/). The "disease-syndrome-symptom" association networks of four RA syndromes were established by using the intersection genes of syndrome-related differential genes and symptom-related genes, and the key network target genes of each syndrome were screened out and the corresponding biological functions were mined through topological feature calculation and enrichment analysis. The genes associated with clinical symptoms such as vasculitis, joint pain, and fever in the damp-heat obstruction syndrome ranked the top, and the key network target genes of this syndrome were most significantly enriched in the pathways related to material and energy metabolism and thermal reaction biological processes. The clinical symptom-related genes of the phlegm-stasis obstruction syndrome were most significantly enriched in the pathways related to "immunity-inflammation", nervous system regulation, and sensory response. The clinical symptoms such as hypoglycemia, hypotension, weight loss, palpitation, and arrhythmia in Qi-blood deficiency syndrome were predominant, and its key network target genes were most significantly enriched in the pathways related to the nervous system and "immunity-inflammation" response. The abnormal symptoms in the liver and kidney in the liver and kidney deficiency syndrome were commonly seen, and its key network target genes were most significantly enriched in the "immunity-inflammation" regulatory pathways, and liver and kidney development and metabolic response. In conclusion, the differences and connections of the biological basis between different TCM syndromes of RA are in line with the theoretical interpretation of TCM on the etiology and pathogenesis of RA. This study summarized the objective essence of syndromes to a certain extent from the "disease-syndrome-symptom" association network and is expected to provide a theoretical basis for the discovery of serum biomarkers of RA syndromes.
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http://dx.doi.org/10.19540/j.cnki.cjcmm.20211105.501DOI Listing
February 2022

Endometriosis derived exosomal miR-301a-3p mediates macrophage polarization via regulating PTEN-PI3K axis.

Biomed Pharmacother 2022 Mar 3;147:112680. Epub 2022 Feb 3.

Department of Gynaecology and Obstetrics, Fujian Medical University Provincial Clinical Medical College, Fujian Provincial Hospital, Fuzhou, Fujian 350001, China. Electronic address:

This study aimed to explore the effects of endometriosis (EMS)-derived exosomes and miR-301a-3p on the polarization of macrophages and investigate the involved molecular mechanism. The exosomes were isolated from ectopic endometrial tissues of EMS patients and normal human serum (NHS). Results of transmission electron microscope and Nanoparticle Tracking Analysis showed that both EMS-exosomes and NHS-exosomes are about 80 nm microvesicles. Exosomal markers CD63 and TSG101 were abundantly expressed in both EMS-exosomes and NHS-exosomes. No negative marker Calnexin was detected in NHS-exosomes. A small amount of Calnexin was detected in EMS-exosomes. THP-1 cells differentiatee to macrophages by incubating with phorbol-12-myristate-13-acetate. Effects of the exosomes on the phagocytosis and polarization of macrophages were evaluated by PKH26 fluorescent labeling and flow cytometry, respectively. Compared with the NHS-exosomes group, the phagocytic capacity of macrophages was reduced and the polarization of macrophages to M2 macrophages was promoted after EMS-exosomes treatment. Results of western blot showed that compared with the NHS-exosomes group, the EMS-exosomes treatment significantly up-regulated the expression of phosphatidylinositol 3-kinase (PI3K) and down-regulated the expression of phosphatase and tensin homologue deleted on chromosome 10 (PTEN). miR-301a-3p mimic, negative control (NC) mimic, miR-301a-3p inhibitor and NC inhibitor were transfected into cells. Transfection efficiency was confirmed by RT-qPCR. Effects of the miR-301a-3p expression on the macrophages polarization and the expression of Arg-1, PTEN and PI3K in the macrophages were evaluated by flow cytometry and western blot, respectively. miR-301a-3p overexpression significantly enhanced the ability of EMS-exosomes-inducing M2 transformation of macrophages, promoted the expression of Arg-1 and PI3K, and inhibited the PTEN expression. miR-301a-3p inhibitor significantly reduced the expression of Arg-1 and PI3K and promoted the PTEN expression. In conclusion, EMS derived exosomal miR-301a-3p mediated macrophage polarization via regulating PTEN-PI3K axis.
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http://dx.doi.org/10.1016/j.biopha.2022.112680DOI Listing
March 2022

The analgesic properties of Yu-Xue-Bi tablets in the inflammatory pain mice: By the inhibition of CCL3-mediated macrophage transmigration into the spinal cord.

J Ethnopharmacol 2022 May 29;289:115051. Epub 2022 Jan 29.

Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing, 100700, China; Science and Technology Innovation Center, Guangzhou University of Chinese Medicine, Guangzhou, 510405, China. Electronic address:

Ethnopharmacological Relevance: Until now, inflammatory pain, especially ones with central sensitization in the spinal cord, is far from effectively treated. Yu-Xue-Bi Tablets (YXB) is a patented medicine, which has been widely applied for inflammatory pain. However, its therapeutic characteristics and mechanism remain unknown.

Aim Of The Study: This study is designed to evaluate the analgesic characteristics and explore the underlying mechanism of YXB in the inflammatory pain model induced by Complete Freund's Adjuvant (CFA).

Materials And Methods: The analgesic effects were measured by Von Frey test. The expression of calcitonin gene-related peptide (CGRP) was quantified by immunofluorescence. The expression of immune factors was analyzed via Luminex assay. The further quantifications of C-C Motif chemokine ligand 3 (CCL3) were verified by Enzyme-linked immunosorbent assay (ELISA). The transmigration of macrophage and activation of microglia were evaluated by immunofluorescence. Spinal injections of purified CCL3, CCR1 antagonist (J113863) and CCR5 antagonist (Maraviroc) were used to clarify roles of CCL3 assumed in the pharmacological mechanism of YXB.

Results: In CFA mice, YXB ameliorated the mechanical allodynia in dose and time dependent way, suppressed the central sensitization in dose dependent way. In the L5 spinal cord, YXB downregulated the expression of macrophage M1 pro-inflammatory factors TNFRI and CCL3, inhibited the transmigration of circulating macrophage and the activation of microglia. Purified CCL3 led to the transmigration of macrophage, activation of microglia, central sensitization, and mechanical allodynia in the Sham mice. Inhibitors of CCR1 and CCR5 attenuated above symptoms in CFA mice. Purified CCL3 blocked YXB mediated down regulation of CCL3, inhibition of macrophage transmigration, but not activation of microglia.

Conclusion: YXB exerts the analgesic effects by inhibiting CCL3-mediated peripheral macrophage transmigrate into spinal cord. This study provided a novel approach for inflammatory pain treatment and new insight into the pharmacological action of YXB.
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http://dx.doi.org/10.1016/j.jep.2022.115051DOI Listing
May 2022

[Prenatal ultrasonographic manifestations and genetic analysis of eight fetuses with 16p11.2 microdeletions].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Feb;39(2):227-230

Fujian Maternity and Child Health Care Hospital, The Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China.

Objective: To analyze the intrauterine phenotype and genotype of eight fetuses carrying a 16p11.2 microdeletion.

Methods: 5100 fetuses undergoing routine prenatal diagnosis were subjected to single nucleotide polymorphism-based microarray (SNP-array) analysis. Fetuses harboring a 16p11.2 microdeletion were analyzed for their ultrasonographic characteristics.

Results: Eight fetuses were found to harbor a microdeletion in the 16p11.2 region. Among these, six had a typical 500-600 kb deletion, while the remaining two had an atypical 220 kb deletion at the distal part of 16p11.2. Four fetuses showed vertebral malformations, two had mild left ventriculomegaly, one had hydrocephalus, and one had pulmonary valve stenosis with regurgitation. The parents of five fetuses have accepted pedigree verification, and the results confirmed that the 16p11.2 microdeletions carried by fetuses all had a de novo origin.

Conclusion: The intrauterine phenotypes of fetuses carrying a 16p11.2 microdeletion may be variable, and the deletion can be effectively detected with the SNP-array assay.
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http://dx.doi.org/10.3760/cma.j.cn511374-20201126-00833DOI Listing
February 2022

APA scoring system: a novel predictive model based on risk factors of pregnancy loss for recurrent spontaneous abortion patients.

J Obstet Gynaecol 2022 Jan 20:1-6. Epub 2022 Jan 20.

Center of Prenatal Diagnosis, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.

The aim of this study was to analyse the risk factors of pregnancy loss of patients with recurrent spontaneous abortion (RSA) and develop a scoring system to predict RSA. Clinical data of 242 cases, with RSA who were treated at Fujian Provincial Maternity and Children's Hospital, were selected. The factors of pregnancy loss for RSA patients were evaluated by univariate and multivariate analyses. There were 242 RSA patients, of whom 34 (14.0%) developed pregnancy loss. A multivariate analysis showed the following adverse risk factors for RSA: antinuclear antibody spectrum, protein s deficiency and antiphospholipid antibodies. The pregnancy loss rates of antinuclear antibody spectrum group, protein S deficiency group and antiphospholipid antibodies group were 25.0%, 22.5% and 19.4%, respectively. Each of these factors contributed 1 point to the risk score. The pregnancy loss rates were 6.3%, 24.6%, 50% for the low-, intermediate- and high-risk categories, respectively ( < .001). The area under the receiver operating characteristic curve for the score of RSA was .733. Our findings suggest that this validated and simple scoring system could accurately predict the risk of pregnancy loss of RSA patients. The score might be helpful in the selection of risk-adapted interventions to decrease the incidence. Impact Statement The live birth rate increases to 80%-90% after anticoagulant and/or immunosuppressive treatment in patients with RSA. However, there is still a high rate of re-abortion even after active treatment. Antinuclear antibody spectrum, protein s deficiency and antiphospholipid antibodies were independent risk factors for pregnancy loss. A novel predictive model based on these factors was then established and validated. The newly developed score might be helpful in the selection of risk-adapted interventions to decrease the incidence. For patients in the intermediate-risk and high-risk groups, we should conduct more targeted studies and formulate corresponding therapies to improve the success rate of treatment.
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http://dx.doi.org/10.1080/01443615.2021.2021507DOI Listing
January 2022

-ximaonanolobatin G, a minor new cembrane-type diterpenoid from the South China Sea soft coral .

J Asian Nat Prod Res 2022 Jun 20;24(6):589-595. Epub 2022 Jan 20.

Collaborative Innovation Center of Yangtze River Delta Region Green Pharmaceuticals and College of Pharmaceutical Science, Zhejiang University of Technology, Hangzhou 310014, China.

A new cembrane-type diterpenoid, named -ximaonanolobatin G (), and one known related one, namely ximaonanolobatin G (), along with four known steroids, were isolated from the South China Sea soft coral . Their full structures were elucidated by extensive spectroscopic analysis, quantum mechanical (QM)-NMR methods, and by the comparison of the spectroscopic data with those reported in the literature.
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http://dx.doi.org/10.1080/10286020.2021.2024519DOI Listing
June 2022

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.

Front Genet 2021 21;12:779237. Epub 2021 Dec 21.

Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant diseases. Although clinical phenotypes of adults and children have been reported, fetal ultrasonic phenotypes are rarely reported. A retrospective analysis of 6,200 pregnant women who received invasive prenatal diagnosis at Fujian Provincial Maternal and Child Health Hospital between October 2016 and January 2021 was performed. Amniotic fluid or umbilical cord blood was extracted for karyotyping and single nucleotide polymorphism array analysis. Single nucleotide polymorphism array analysis revealed six fetuses with copy number variant changes in the 17p11.2 region. Among them, one had a copy number variant microdeletion in the 17p11.2 region, which was pathogenically analyzed and diagnosed as Smith-Magenis syndrome. Five fetuses had copy number variant microduplications in the 17p11.2 region, which were pathogenically analyzed and diagnosed as Potocki-Lupski syndrome. The prenatal ultrasound phenotypes of the six fetuses were varied. The parents of two fetuses with Potocki-Lupski syndrome refused verification. Smith-Magenis syndrome in one fetus and Potocki-Lupski in another were confirmed as . Potocki-Lupski syndrome in two fetuses was confirmed to be from maternal inheritance. The prenatal ultrasound phenotypes of Smith-Magenis syndrome and Potocki-Lupski syndrome in fetuses vary; single nucleotide polymorphism array analysis is a powerful diagnostic tool for these diseases. The ultrasonic phenotypes of these cases may enrich the clinical database.
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http://dx.doi.org/10.3389/fgene.2021.779237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724517PMC
December 2021

Repurposing a clinically approved prescription Colquhounia root tablet to treat diabetic kidney disease via suppressing PI3K/AKT/NF-kB activation.

Chin Med 2022 Jan 4;17(1). Epub 2022 Jan 4.

Key Laboratory of Beijing for Identification and Safety Evaluation of Chinese Medicine, Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, No. 16, Nanxiaojie, Dongzhimennei, Beijing, 100700, China.

Background: Growing clinical evidences show the potentials of Colquhounia root tablet (CRT) in alleviating diabetic kidney disease (DKD). However, its pharmacological properties and underlying mechanisms remain unclear.

Methods: 'Drug target-Disease gene' interaction network was constructed and the candidate network targets were screened through evaluating node genes' topological importance. Then, a DKD rat model induced by high-fat diet/streptozotocin was established and used to determine pharmacological effects and network regulatory mechanisms of CRT against DKD, which were also verified using HK2 cell model induced by high glucose.

Results: The candidate network targets of CRT against DKD were involved into various type II diabetes-related and nephropathy-related pathways. Due to the topological importance of the candidate network targets and the important role of the imbalance between immunity and inflammation in the pathogenesis of DKD, PI3K/AKT/NF-кB signaling-mediated immune-modulatory and anti-inflammatory actions of CRT were selected to be experimentally verified. On the basis of high-fat diet (HFD) / streptozotocin (STZ)-induced DKD rat model, CRT effectively reduced the elevated level of blood glucose, decreased the accumulation of renal lipid, suppressed inflammation and the generation of ECM proteins, and ameliorated kidney function and the renal histopathology through inhibiting the activation of PI3K, AKT and NF-кB proteins, reducing the nuclear accumulation of NF-кB protein and the serum levels of downstream cytokines, which were in line with the in vitro findings.

Conclusions: Our data suggest that CRT may be the promising candidate drug for treating DKD via reversing the imbalance of immune-inflammation system mediated by the PI3K/AKT/NF-кB/IL-1β/TNF-α signaling.
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http://dx.doi.org/10.1186/s13020-021-00563-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725443PMC
January 2022

Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.

J Clin Lab Anal 2022 Feb 23;36(2):e24181. Epub 2021 Dec 23.

Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Background: Heterozygotes of HPFH and δβ thalassemia are clinically asymptomatic or have mild hemoglobin (Hb) values. However, when both HPFH and δβ-thalassemia are coinherited with heterozygous β-thalassemia, patients may progress to a clinical phenotype of thalassemia intermedia or thalassemia major. The purpose of this study was to characterize the genotypes and analyze the phenotypes of these disorders in Fujian Province, to offer advice for genetic counseling and accurate prenatal diagnosis in this region. A total of 55 001 subjects were participated in thalassemia screening. 142 subjects with HbF levels ≥10%, before the blood transfusion, were selected for further investigation.

Methods: Multiplex ligation-dependent probe amplification (MLPA) and Gap-PCR were used to screen for three β-globin gene cluster deletions: Chinese γ( γδβ) thalassemia and Southeast Asia HPFH (SEA-HPFH) deletion and 1357 bp deletion (NG-000007.3:g.69997-71353 del 1357).

Results: A total of 142 patients with HbF (≥10%) were enrolled to characterize the molecular basis of β-globin gene cluster deletions in our study; 22 cases 0.04% (22/55 001) were definitively diagnosed with β-globin gene cluster deletions. Ten cases were heterozygous for the Chinese γ( γδβ) -thal mutations, 10 cases were heterozygous for SEA-HPFH, and one case was compound heterozygous for SEA-HPFH and the α-thal mutation. The 1357 bp deletion (NG-000007.3:g.69997-71353 del 1357) was detected in one case. Moreover, the hemoglobin A  levels in patients who were heterozygous for Chinese γ( γδβ) -thal were statistically lower than in cases with SEA-HPFH deletion(p < 0.05).

Conclusion: In Fujian Province, the prevalence of common β-globin gene cluster deletions was 0.04%. What's more, the most common β-globin cluster deletions are the Chinese γ( γδβ) and SEA-HPFH.
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http://dx.doi.org/10.1002/jcla.24181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842190PMC
February 2022

Preparation, Structure, and Electrical Properties of Cobalt-Modified Bi(ScIn)O-PbTiO-Pb(MgNb)O High-Temperature Piezoelectric Ceramics.

Micromachines (Basel) 2021 Dec 13;12(12). Epub 2021 Dec 13.

School of Microelectronics, Xidian University, Xi'an 710071, China.

Cobalt-modified 0.40Bi(ScIn)O-0.58PbTiO-0.02Pb(MgNb)O ceramics (abbreviated as BSI-PT-PMN-Co) were produced by conventional two-step solid-state processing. The phase structure, micro structure morphology, and electrical properties of BSI-PT-PMN-Co were systematically studied. The introduction of Co ions exerted a significant influence on the structure and electrical properties. The experiment results demonstrated that Co ions entered the -sites of the lattice, resulting in slight lattice distortion and a smaller lattice constant. The average grain size increased from ~1.94 μm to ~2.68 μm with the increasing Co content. The optimized comprehensive electrical properties were obtained with proper Co-modified content 0.2 wt.%. The Curie temperature () was 412 °C, the piezoelectric constant () was 370 pC/N, the remnant polarization () was 29.2 μC/cm, the relatively dielectric constant () was 1450, the planar electromechanical coupling coefficient () was 46.5, and the dielectric loss (tan) was 0.051. Together with the enhanced DC resistivity of 10 Ω cm under 300 °C and good thermal stability, BSI-PT-PMN-0.2Co ceramic is a promising candidate material for high-temperature piezoelectric applications.
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http://dx.doi.org/10.3390/mi12121556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8703716PMC
December 2021

Re-examination of the Gene Family in Barley ( L.) Indicates a Role in the Regulation of Starch Synthesis.

Front Plant Sci 2021 1;12:791584. Epub 2021 Dec 1.

State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China, Sichuan Agricultural University, Chengdu, China.

The factor () gene family is a large plant-specific transcription factor family, which plays important roles in regulating plant growth and development. A role in starch synthesis is among the multiple functions of this family of transcription factors. Barley ( L.) is one of the most important cereals for starch production. However, there are limited data on the contribution of AP2 transcription factors in barley. In this study, we used the recently published barley genome database (Morex) to identify 185 genes of the family. Compared with previous work, we identified 64 new genes in the gene family and corrected some previously misannotated and duplicated genes. After phylogenetic analysis, genes were classified into four subfamilies and 18 subgroups. Expression profiling showed different patterns of spatial and temporal expression for genes. Most of the 12 genes analyzed using quantitative reverse transcription-polymerase chain reaction had similar expression patterns when compared with those of starch synthase genes in barley, except for and . is homologous to , which negatively regulates the synthesis of rice starch. Luciferase reporter gene, and yeast one-hybrid assays showed that bound the promoter of and . Thus, might be an interesting candidate gene to further explore the mechanisms involved in the regulation of starch synthesis in barley.
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http://dx.doi.org/10.3389/fpls.2021.791584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8672199PMC
December 2021

Dermatan sulfate and chondroitin sulfate from alleviate the allergy sensitized by major royal jelly protein 1.

Food Funct 2022 Jan 24;13(2):587-595. Epub 2022 Jan 24.

School of Food Science and Biological Engineering, Zhejiang Gongshang University, Hangzhou, Zhejiang 310018, China.

The objective of the present study was to explore the desensitization effect of dermatan sulfate (DS) and chondroitin sulfate (CS) from () on mice sensitized by major royal jelly protein 1 (MRJP1). First, the affinity between six glycosaminoglycans and the MRJP1 polyclonal antibody was measured by the ELISA method. dermatan sulfate ( DS) and chondroitin sulfate ( CS) were selected due to their highest binding affinity. Second, the molecular docking method was used to explore the interaction between DS and MRJP1 and CS and MRJP1. The results showed that DS and CS combined with MRJP1 successfully, which meant a potential function of relieving the MRJP1-caused allergy. Finally, the MRJP1-sensitized mice model was established and confirmed that DS and CS had the desensitization ability to relieve MRJP1-induced allergic symptoms. To validate the conclusion, the relief of allergic symptoms in mice was observed. The production of total IgE, MRJP1-specific IgE and histamine was measured. The desensitization mechanism was further studied by measuring cytokines (IL-4 and IFN-γ) from splenocytes stimulated with MRJP1 . Based on and experiments, it was confirmed that DS and CS have the ability to alleviate MRJP1-induced allergic symptoms, which proposes a potential candidate material against IgE-mediated food allergy.
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http://dx.doi.org/10.1039/d1fo03244eDOI Listing
January 2022

Silencing a Simple Extracellular Leucine-Rich Repeat Gene Enhances the Resistance of Rice to Brown Planthopper .

Int J Mol Sci 2021 Nov 10;22(22). Epub 2021 Nov 10.

State Key Laboratory of Rice Biology & Ministry of Agriculture Key Lab of Agricultural Entomology, Institute of Insect Sciences, Zhejiang University, Hangzhou 310058, China.

Many plant proteins with extracellular leucine-rich repeat (eLRR) domains play an important role in plant immunity. However, the role of one class of eLRR plant proteins-the simple eLRR proteins-in plant defenses against herbivores remains largely unknown. Here, we found that a simple eLRR protein OsI-BAK1 in rice localizes to the plasma membrane. Its expression was induced by mechanical wounding, the infestation of gravid females of brown planthopper (BPH) or white-backed planthopper and treatment with methyl jasmonate or abscisic acid. Silencing (ir-) in rice enhanced the BPH-induced transcript levels of three defense-related WRKY genes (, and ) but decreased the induced levels of ethylene. Bioassays revealed that the hatching rate was significantly lower in BPH eggs laid on ir- plants than wild-type (WT) plants; moreover, gravid BPH females preferred to oviposit on WT plants over ir- plants. The exogenous application of ethephon on ir- plants eliminated the BPH oviposition preference between WT and ir- plants but had no effect on the hatching rate of BPH eggs. These findings suggest that OsI-BAK1 acts as a negative modulator of defense responses in rice to BPH and that BPH might exploit this modulator for its own benefit.
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http://dx.doi.org/10.3390/ijms222212182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622231PMC
November 2021

Erratum: A New Tool for CRISPR-Cas13a-BasedCancer Gene Therapy.

Mol Ther Oncolytics 2021 Dec 8;23:367-377. Epub 2021 Nov 8.

[This corrects the article DOI: 10.1016/j.omto.2020.09.004.].
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http://dx.doi.org/10.1016/j.omto.2021.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591403PMC
December 2021

Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities.

Int J Gen Med 2021 18;14:8437-8443. Epub 2021 Nov 18.

Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, People's Republic of China.

Introduction: Increased nuchal translucency (NT) is closely related to an increased risk of chromosomal abnormalities. However, the criterion of increased NT for invasive prenatal diagnosis remains controversial, as the cutoff values are inconsistent among countries. This study was conducted to compare the various cutoff values of increased NT and calculate the incidence of chromosomal abnormalities to determine the predictive ability of these cutoff values in conventional chromosome analysis.

Methods: A total of 3223 invasive samples with increased nuchal translucency (NT) or other non-ultrasound indications were collected from singleton pregnant women. Samples with isolated increased NT were divided into five groups based on the NT thickness: 909 samples in the NT ≥2.5 mm group, 819 samples in the NT ≥95th group, 547 samples in the NT ≥99th group, 527 samples in the NT ≥3.0 mm group, and 253 samples in the NT ≥3.5 mm group; 2301 samples with normal NT were considered as the control group. All five groups were karyotyped and the results were compared. The accuracy of the NT cutoff value for the screening of chromosomal abnormalities was assessed using receiver operating characteristic curve analysis.

Results: Detection of all chromosomal aberrations and trisomy 21 showed that the sensitivity and false-positive rate decreased sequentially in the NT ≥2.5 mm, NT ≥95th, NT ≥3 mm, NT ≥99th, and NT ≥3.5 mm groups, whereas the specificity, positive predictive value, and false-negative rates increased sequentially. Comprehensive analysis of various factors, including sensitivity and specificity, revealed values equal to or higher than the calculated 95th percentile of NT distribution, which showed a sensitivity of 49.2% and specificity of 75.67% for detecting all aneuploidies and a sensitivity of 64% and specificity of 75.45% for trisomy 21, exhibiting the highest ability for the screening of chromosomal defects in first-trimester screening.

Conclusion: For different thresholds of NT thickness, values equal to or higher than the calculated 95th percentile of the NT distribution showed the highest ability for the screening of chromosomal defects in first-trimester screening.
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http://dx.doi.org/10.2147/IJGM.S330960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608408PMC
November 2021

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center.

Int J Gen Med 2021 5;14:7719-7728. Epub 2021 Nov 5.

Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China.

Objective: This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM).

Methods: Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging. Subgroups of mild, moderate, and severe were determined according to lateral ventricle widths. The NIBVM group was further classified into pregnancies with soft markers, non-structural abnormalities, and structural abnormalities.

Results: A total of 353 pregnancies were enrolled, including 153 cases of IBVM and 200 cases of NIBVM. Conventional karyotyping was performed on 192 samples, and 15 cases of numerical abnormalities and 3 cases of unbalanced structural abnormalities were identified. Chromosomal microarray analysis (CMA) was concurrently performed on 108 of them and revealed additional 5 cases (4.7%) of copy number variants with clinical significance. CMV DNA testing was performed on 154 of the 192 cases that underwent invasive prenatal diagnosis, and a positive result was found in 2 (1.3%) cases. In the IBVM group, the percentage of favorable prognosis in the mild, moderate and severe pregnancies were 94.4%, 79.2%, and 4.8%, respectively, and the termination of pregnancy (TOP) rates were 4.6%, 20.8%, and 85.7%, respectively. In both the mild and moderate NIBVM, the TOP rates progressively increased and the favorable prognosis survival rates progressively decreased relative to the soft markers, non-structural abnormalities, and structural abnormalities, respectively. Approximately 94.1% of severe NIBVM ended in termination.

Conclusion: Genetic disorders and fetal infection are important etiology of BVM. CMA is highly recommended for genetic disorders' evaluation. Pregnancies with severe BVM always ended in TOP, while in mild-to-moderate NIBVM, prenatal imaging by ultrasound and/or MRI plays important roles in the pregnancy outcomes.
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http://dx.doi.org/10.2147/IJGM.S335011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8577530PMC
November 2021
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