[Analysis of a child with 46,XY Disorder of sex development due to a novel variant of NR5A1 gene].

OBJECTIVE: To analyze the clinical features and genetic basis of a child with Disorder of sex development (DSD). METHODS: A child who was admitted to the Linyi People's Hospital for primary amenorrhoea on July 29, 2019 was selected as the study subject. Clinical data of the child was collected. Chromosomal karyotyping and quantitative real-time PCR were used to detect Y chromosome microdeletions and other chromosomal aberrations. Next-generation sequencing was carried out for the child and her parents. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 13-year-old girl, has featured primary amenorrhoea and onset of secondary sex characteristics of males. Ultrasound exam had detected no uterus and definite ovarian structure, but narrow band vaginal hypoecho and curved cavernoid structure. The child was found to have a 46,XY karyotype without an AZF deletion. DNA sequencing revealed that she has harbored a maternally derived c.323delA (p.Q108Rfs*188) variant in the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, which may result in a truncated protein. The variant was classified as pathogenic (PVS1+PM2_Supporting+PP4) based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION: The NR5A1: c.323delA variant probably underlay the pathogenesis of 46,XY DSD in this child. The discovery of the novel variant has enriched the mutational spectrum of the NR5A1 gene and provided a basis for clinical diagnosis, treatment and prenatal diagnosis.

Correlation analysis of epicardial adipose tissue thickness, C-reactive protein, interleukin-6, visfatin, juxtaposed with another zinc finger protein 1, and type 2 diabetic macroangiopathy.

BACKGROUND: To investigate the correlation between the thickness of epicardial adipose tissue (EAT), C-reactive protein (CRP), interleukin (IL) -6, visfatin, juxtaposed with another zinc finger protein 1 (JAZF1) and type 2 diabetic mellitus (T2DM) macroangiopathy. METHODS: The study enrolled 82 patients with T2DM with macroangiopathy (the Complication Group), and 85 patients with T2DM (the Diabetes Group) who were admitted to Shandong Provincial Third Hospital from February 2018 to February 2020. In addition, 90 healthy people who underwent physical examination at the same hospital during the same period were enrolled (the Healthy Control Group). Age, gender, height, weight, waist circumference (WC), hip circumference (HC), diabetic course and therapeutic drugs, waist hip ratio (WHR), and body mass index (BMI) were recorded and calculated. RESULTS: The baseline characteristics of the three groups were comparable, and the diabetic course of the Complication Group and the Diabetes Group was not significantly different (P > 0.05). The WHR of the Complication Group was higher than that of the Diabetes Group and the Healthy Control Group, with statistical significance (P < 0.05). The FPG, 2hPG, HbA1C, CRP, IL-6, Visfatin, JAZF1, HOMA-IR, EAT thickness, and baPWV of the Complication Group were all higher than those of the Diabetes Group and the Healthy Control Group (P < 0.05, respectively). The JAZF1 and FIns of the Complication Group and Diabetes Group were lower than those of the Healthy Control Group, and JAZF1 of the Complication Group was lower than the Diabetes Group with statistical significance (P<0.05, respectively). Pearson correlation analysis showed that the EAT thickness was positively correlated with CRP, IL-6, visfatin, and JAZF1 (r = 0.387, 0.451, 0.283, 0.301, respectively, all P<0.001). Pearson correlation analysis showed that baPWV was positively correlated with EAT thickness, CRP, IL-6, visfatin, and JAZF1 (r = 0.293, 0.382, 0.473, 0.286, respectively, all P < 0.001). Multivariate stepwise regression analysis showed that FPG, 2hPG, HbA1C, CRP, IL-6, visfatin, JAZF1, and EAT thickness were independent risk factors that affected T2DM macroangiopathy. CONCLUSIONS: Clinical monitoring and treatment of T2DM macroangiopathy can use CRP, IL-6, Visfatin, JAZF1, and EAT thickness as new targets to delay the progression of the disease. Further research on the relationship between the above factors and the pathogenesis of T2DM macroangiopathy may be helpful provide new treatment strategies.

Potential value of serum Aspergillus IgG antibody detection in the diagnosis of invasive and chronic pulmonary aspergillosis in non-agranulocytic patients.

BACKGROUND: At present, serum Aspergillus IgG and IgM antibody detection is mainly used in the diagnosis of chronic pulmonary aspergillosis (CPA), but its value in the diagnosis of invasive pulmonary aspergillosis (IPA) in non-agranulocytic patients is still unclear. IgM can be used as a marker of acute infection to help diagnose acute infection-related diseases. IgG is a marker of long-term infection and is used to assist in the diagnosis of pre-existing or chronic infection-related diseases. The aim of this study was to investigate and compare the value of serum Aspergillus IgG and IgM antibody detection in the diagnosis of IPA and CPA in non-agranulocytic patients. METHODS: Fifty-eight cases of pulmonary aspergillosis (37 IPA and 21 CPA cases), 15 cases of community-acquired bacterial pneumonia and 50 cases in the healthy control group were collected. The serum (1,3)-ß-D-glucan test (G test) was performed with a chromogenic method, and the galactomannan test (GM test) and Aspergillus IgG and IgM antibody detection were performed by commercial enzyme-linked immunosorbent assay (ELISA) in all patients. The sensitivity and specificity, cut-off value and area under the curve (AUC) of Aspergillus IgG and IgM antibodies were further obtained by receiver operating characteristic (ROC) curves. RESULTS: The positive rate of the G test, Aspergillus IgG antibody detection and the GM test also showed notable differences among the IPA, CPA, community-acquired bacterial pneumonia and healthy groups (P = 0.006, P <  0.001 and P = 0.217, respectively). Only the positive rate of the GM test showed a significant difference between the IPA and CPA groups (P = 0.04). ROC curves indicated that Aspergillus IgG antibody detection had a higher specificity in the IPA group than in the CPA group (0.952). The detection of Aspergillus IgG antibody can preferably distinguish IPA from community-acquired bacterial pneumonia and healthy controls (sensitivity = 0.923, specificity = 0.459, cut-off value = 134.46, AUC = 0.727). It can also distinguish CPA from community-acquired bacterial pneumonia and healthy controls (sensitivity = 0.952, specificity = 0.692, cut-off value = 75.46, AUC = 0.873). CONCLUSIONS: Serum Aspergillus IgG antibody detection may have certain clinical value in the diagnosis of IPA and CPA in non-agranulocytic patients.

MicroRNA-29 regulates myocardial microvascular endothelial cells proliferation and migration in association with IGF1 in type 2 diabetes.

BACKGROUND: In our study, we investigated the expression and function of microRNA-29 in myocardial microvascular endothelial cells (MMEVC) in type 2 diabetic Goto-Kakizaki (GK) rats. METHODS: MiR-29 gene expression was compared, by qRT-PCR between diabetic GK rat MMEVC and non-diabetic Wistar rat MMEVC. MiR-29 was downregulated in GK MMEVC and its effect on angiogenic properties of proliferation and migration was examined. Potential downstream target gene of miR-29, insulin growth factor 1 (IGF1), was assessed by dual-luciferase reporter assay, qRT-PCR and western blot in GK MMEVC. IGF1 was also downregulated by siRNA in miR-29-downregulated GK MMEVC. Its effect on miR-29-associated angiogenic regulation on MMEVC proliferation and migration was further investigated. RESULTS: MiR-29 was substantially upregulated in GK MMEVC than in Wistar MMEVC. Transfection of synthetic miR-29 inhibitor successfully downregulate endogenous miR-29 in GK MMEVC, and subsequently promoted angiogenesis by increasing cell proliferation and migration. IGF1 was confirmed to be downstream target gene of miR-29 in GK MMEVC, with its gene and protein expressions both upregulated in miR-29-downregualted GK MMEVC. Conversely, siRNA-mediated IGF1 downregulation reversed the pro-angiogenic effect of miR-29 downregulation in GK MMEVC, as it decreased cell proliferation and migration. CONCLUSION: Our study suggests that miR-29 downregulation, through its inverse regulation on downstream target of IGF1 gene, is a pro-angiogenic factor in MMEVC in type 2 diabetic rats.

EBP1 suppresses growth, migration, and invasion of thyroid cancer cells through upregulating RASAL expression.

Ebp1, a protein identified by its interactions with the ErbB3 receptor, has been characterized as a negative regulator of cancers. RAS GTPase-activating protein (RasGAP), RASAL1, was recently identified as a major tumor suppressor in thyroid cancer. In this study, we examined EBP1 expression in papillary and follicular thyroid cancer cells. We found that compared with normal thyroid cells, TPC1, WRO, and FTC133 thyroid tumor cells exhibited lower EBP1 expression at messenger RNA (mRNA) and protein levels. We then investigated the effects of forced EBP1 expression on growth, migration, and invasiveness of thyroid tumor cells. By using MTT and Boyden chamber assays, we showed that EBP1 overexpression dramatically reduced growth rate, migration, and invasiveness of K1 and FTC133 thyroid tumor cells. Furthermore, we explored the molecular mechanism underlying the effects of EBP1 on the cells by disclosing the correlation of EBP1 and RASAL1 expression. RASAL expression was elevated in thyroid tumor cells overexpressing EBP1. Knockdown RASAL by transduction of RASAL1 shRNA lentiviral particles markedly reduced RASAL levels with restoration of EBP1, and RASAL1 knockdown abrogated the effects of forced EBP1 expression on cell growth, migration, and invasiveness of thyroid tumor cells. These findings suggest that Ebp1 suppressed thyroid cancer cell lines by upregulating RASRAL expression.

[Association study of telomere length with idiopathic male infertility].

Telomeres are evolutionary conserved, multifunctional DNA-protein complexes located at the ends of eukaryotic chromosomes. Telomeres maintain chromosome stability and genome integrity and also play an important role in meiosis which aid in synapsis, homologous recombination, and segregation. Sperm telomere has been reported to play an important role in fertilization and embryo development. Nowadays, the association between telomere and reproduction is one of the major areas of interest, however whether sperm telomere associated with male infertility is not clear. In this study, in order to find out the association between Chinese idiopathic infertility and sperm telomere length, we analyzed the difference of sperm telomere length between idiopathic infertile men and normal fertile men, as well as the correlations between sperm telomere length and human semen characteristics. We analyzed 126 Chinese idiopathic infertile men and 138 normal fertile men for sperm telomere length by using quantitative PCR. We found that the relative sperm mean telomere length of infertile men was significantly shorter than that of fertile men (2.894 ± 0.115 vs. 4.016 ± 0.603, P=5.097 x 10⁻5). Both sperm count and semen progressive motility are related with telomere length. Our results suggest that sperm telomere length is associated with idiopathic male infertility of China and we proposed the possibility that shorter telomeres in sperm chromosome will reduce spermatogenesis and sperm functions, which finally affected the fertility of male.

Expression profile of mitrogen-activated protein kinase (MAPK) signaling genes in the skeletal muscle & liver of rat with type 2 diabetes: role in disease pathology.

BACKGROUND & OBJECTIVES: Type 2 diabetes (T2D) is characterized as hyperglycaemia caused by defects in insulin secretion, and it affects target tissues, such as skeletal muscle, liver and adipose tissue. Therefore, analyzing the changes of gene expression profiles in these tissues is important to elucidate the pathogenesis of T2D. We, therefore, measured the gene transcript alterations in liver and skeletal muscle of rat with induced T2D, to detect differentially expressed genes in liver and skeletal muscle and perform gene-annotation enrichment analysis. METHODS: In the present study, skeletal muscle and liver tissue from 10 streptozotocin-induced diabetic rats and 10 control rats were analyzed using gene expression microarrays. KEGG pathways enriched by differentially expressed genes (DEGs) were identified by WebGestalt Expander and GATHER software. DEGs were validated by the method of real-time PCR and western blot. RESULTS: From the 9,929 expressed genes across the genome, 1,305 and 997 differentially expressed genes (DEGs, P<0.01) were identified in comparisons of skeletal muscle and liver, respectively. Large numbers of DEGs (200) were common in both comparisons, which was clearly more than the predicted number (131 genes, P<0.001). For further interpretation of the gene expression data, three over-representation analysis softwares (WebGestalt, Expander and GATHER) were used. All the tools detected one KEGG pathway (MAPK signaling) and two GO (gene ontology) biological processes (response to stress and cell death), with enrichment of DEGs in both tissues. In addition, PPI (protein-protein interaction) networks constructed using human homologues not only revealed the tendency of DEGs to form a highly connected module, but also suggested a "hub" role of p38-MAPK-related genes (such as MAPK14) in the pathogenesis of T2D. INTERPRETATION & CONCLUSIONS: Our results indicated the considerably aberrant MAPK signaling in both insulin-sensitive tissues of T2D rat, and that the p38 may play a role as a common "hub" in the gene module response to hyperglycaemia. Furthermore, our research pinpoints the role of several new T2D-associated genes (such as Srebf1 and Ppargc1) in the human population.

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.

BACKGROUND: Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the exon region, variations in the intron region are rarely reported. METHODS: In our study, we employed whole exome sequencing and Sanger sequencing to genotype members of this family. Additionally, a minigene assay was conducted to evaluate the impact of genetic variants on splicing. RESULTS: Our findings reveal a novel intronic variant (NM_177433.3:c.1271 + 4_1271 + 7delAGTA) in intron 10 of the MAGED2 gene. Further analysis using the minigene assay demonstrated that this variant activated an intronic cryptic splice site, resulting in a 96 bp insertion in mature mRNA. CONCLUSIONS: Our results indicate that the novel intronic variant (c.1271 + 4_1271 + 7delAGTA) in intron 10 of the MAGED2 gene is pathogenic. This expands the mutation spectrum of MAGED2 and highlights the significance of intronic sequence analysis.

Sensory-sympathetic coupling in superior cervical ganglia after myocardial ischemic injury facilitates sympathoexcitatory action via P2X7 receptor.

P2X receptors participate in cardiovascular regulation and disease. After myocardial ischemic injury, sensory-sympathetic coupling between rat cervical DRG nerves and superior cervical ganglia (SCG) facilitated sympathoexcitatory action via P2X7 receptor. The results showed that after myocardial ischemic injury, the systolic blood pressure, heart rate, serum cardiac enzymes, IL-6, and TNF-α were increased, while the levels of P2X7 mRNA and protein in SCG were also upregulated. However, these alterations diminished after treatment of myocardial ischemic (MI) rats with the P2X7 antagonist oxATP. After siRNA P2X7 in MI rats, the systolic blood pressure, heart rate, serum cardiac enzymes, the expression levels of the satellite glial cell (SGC) or P2X7 were significantly lower than those in MI group. The phosphorylation of ERK 1/2 in SCG participated in the molecular mechanism of the sympathoexcitatory action induced by the myocardial ischemic injury. Retrograde tracing test revealed the sprouting of CGRP or SP sensory nerves (the markers of sensory afferent fibers) from DRG to SCG neurons. The upregulated P2X7 receptor promoted the activation of SGCs in SCG, resulting in the formation of sensory-sympathetic coupling which facilitated the sympathoexcitatory action. P2X7 antagonist oxATP could inhibit the activation of SGCs and interrupt the formation of sensory-sympathetic coupling in SCG after the myocardial ischemic injury. Our findings may benefit the treatment of coronary heart disease and other cardiovascular diseases.

[Effects of partial substitution of chemical fertilizer with organic fertilizer on arbuscular mycorrhizal fungal community of Mangifera indica]. / æœ‰æœºè‚¥æ›¿ä»£éƒ¨åˆ†åŒ–è‚¥å¯¹èŠ’æžœä¸›æžèŒæ ¹çœŸèŒç¾¤è½çš„å½±å“.

Nutrient enrichment caused by fertilization would reduce the diversity of arbuscular mycorrhizal fungi (AMF). To explore whether partial substitution of chemical fertilizer with organic fertilizer would alleviate the negative effects of nutrient enrichment on AMF, we conducted a two-year mango (Mangifera indica) field experiment to examine the effects of different fertilization regimes on AMF communities in roots and rhizospheric soils by using high-throughput sequencing. The treatments included chemical-only fertilization (control), and two kinds of organic fertilizer (commercial organic fertilizer and bio-organic fertilizer) with replacing 12% (low) and 38% (high) chemical fertilizer. The results showed that under equivalent nutrient input, partial substitution of chemical fertilizer with organic fertilizer had positive effects on the yield and quality of mango. The application of organic fertilizer could effectively increase AMF richness. AMF diversity was significantly positively correlated with some indices of fruit quality. Compared with chemical-only fertilization, high replacement ratio of organic fertilizer could significantly change root AMF community, but did not affect AMF community in the rhizospheric soil. Bio-organic fertilizer could enrich more AMF species and form a more complex AMF co-occurrence network than commercial organic fertilizer. In all, replacing chemical fertilizer with a high proportion of organic fertilizer could improve the yield and quality of mango while maintain AMF richness. The changes of AMF community caused by organic fertilizer substitution pre-ferably occurred in roots rather than soils.

Semaphorin 7a aggravates TGF-ß1-induced airway EMT through the FAK/ERK1/2 signaling pathway in asthma.

Background: TGF-ß1 can induce epithelial-mesenchymal transition (EMT) in primary airway epithelial cells (AECs). Semaphorin7A (Sema7a) plays a crucial role in regulating immune responses and initiating and maintaining transforming growth factor ß1 TGF-ß1-induced fibrosis. Objective: To determine the expression of Sema7a, in serum isolated from asthmatics and non-asthmatics, the role of Sema7a in TGF-ß1 induced proliferation, migration and airway EMT in human bronchial epithelial cells (HBECs) in vitro. Methods: The concentrations of Sema7a in serum of asthmatic patients was detected by enzyme-linked immunosorbent assay (ELISA). The expressions of Sema7a and integrin-ß1 were examined using conventional western blotting and real-time quantitative PCR (RT-PCR). Interaction between the Sema7a and Integrin-ß1 was detected using the Integrin-ß1 blocking antibody (GLPG0187). The changes in EMT indicators were performed by western blotting and immunofluorescence, as well as the expression levels of phosphorylated Focal-adhesion kinase (FAK) and Extracellular-signal-regulated kinase1/2 (ERK1/2) were analyzed by western blot and their mRNA expression was determined by RT-PCR. Results: We described the first differentially expressed protein of sema7a, in patients with diagnosed bronchial asthma were significantly higher than those of healthy persons (P<0.05). Western blotting and RT-PCR showed that Sema7a and Integrin-ß1 expression were significantly increased in lung tissue from the ovalbumin (OVA)-induced asthma model. GLPG0187 inhibited TGF-ß1-mediated HBECs EMT, proliferation and migration, which was associated with Focal-adhesion kinase (FAK) and Extracellular-signal-regulated kinase1/2 (ERK1/2) phosphorylation. Conclusion: Sema7a may play an important role in asthma airway remodeling by inducing EMT. Therefore, new therapeutic approaches for the treatment of chronic asthma, could be aided by the development of agents that target the Sema7a.

[The clinical analysis of corneal interface fluid syndrome].

OBJECTIVE: To analysis the clinical characteristics of corneal interface fluid syndrome (IFS). METHODS: This is a retrospective study. During Jun. 2007 to Oct. 2011. Eight cases (12 eyes) of IFS were diagnosed at Henan Eye Institute. The history and complete ophthalmic examination that include Slit-lamp examination, Slit-lamp photography, IOP, anterior segment OCT (AS-OCT), confocal microscopic exams were recorded. RESULTS: In total 8 cases (12 eyes), 4 cases were bilateral, 4 cases were unilateral. Six patients were male and 2 were female. The age of the patients ranged from 19 to 35 years. Post-lasik steroid-induced elevated IOP was 4 eyes in 2 patients. Primary open angle glaucoma was 4 eyes in 2 patients. 1 patient (1 eye) was Posner-Shlossman syndrome, 1 patient (1 eye) was pigmented glaucoma, 1 patient (1 eye) was post-lasik traumatic iritis. 1 patient (1 eye) got IFS after repeated flap reposition because of epithelium ingrowth. Slit-lamp exam indicated edematous corneal, lamellar haze, interface fluids accumulation. AS-OCT showed obvious interface dark area. Confocal microscopy exam showed edematous corneal flap, more oval and large keratocytes' nuclei but no inflammatory cells. CONCLUSIONS: IFS is a rare but serious complication after LASIK. The main causes are high intraocular pressure and/or dysfunction of corneal endothelium. Careful exam by slit-lamp may help diagnosis, and further AS-OCT and/or in vivo confocal microscopy exam will confirm it.

Pleural involvements in pulmonary sarcoidosis: A case report and review of the literature.

As a chronic and multisystemic granulomatosis of unknown origin, sarcoidosis can affect multiple organs throughout the body with variable progression and prognosis. Sarcoidosis may present with a battery of symptoms and signs, such as dyspnea, non-productive cough, uveitis, and erythema nodosum. Although the lungs and mediastinal lymph nodes are almost affected in sarcoidosis, involvements of the pleurae remain uncommon. Herein, we report a case of sarcoidosis with both pleural effusions and pleural nodules as confirmed by thoracoscopic pleural biopsy.

Interleukin­27 ameliorates allergic asthma by alleviating the lung Th2 inflammatory environment.

Interleukin (IL)­27 can inhibit the differentiation of Th2 cells and plays a role in the development of asthma. However, whether the therapeutic administration of IL­27 in a mouse model of asthma can inhibit allergic responses remains a matter of debate. Additionally, the mechanisms through which IL­27 ameliorates inflammatory responses in asthma are not yet fully understood. Thus, the aim of the present study was to examine the effects of IL­27 on asthma using a mouse model and to elucidate the underlying mechanisms. For this purpose, mice received an intranasal administration of IL­27 and the total and differential cell counts, levels of cytokines and type 1 regulatory T (Tr1) cells in the lungs were detected. The protein and mRNA levels of signal transducer and activator of transcription (STAT)1 and STAT3 were analyzed and airway remodeling was assessed. The results indicated that IL­27 did not ameliorate airway inflammation, airway hyperresponsiveness, and airway remolding when administrated therapeutically. Preventatively, the administration of IL­27 decreased the concentrations of Th2 cytokines and increased the number of Tr1 cells. The protein and mRNA levels of STAT1 and STAT3 were increased. Taken together, these findings demonstrate that the prophylactic administration of IL­27 ameliorates asthma by alleviating the lung Th2 inflammatory environment through the restoration of both the STAT1 and STAT3 pathways. IL­27 may thus prove to be useful as a novel agent for the prevention of asthma.

Machine Learning-Based Radiomics for Prediction of Epidermal Growth Factor Receptor Mutations in Lung Adenocarcinoma.

Identifying an epidermal growth factor receptor (EGFR) mutation is important because EGFR tyrosine kinase inhibitors are the first-line treatment of choice for patients with EGFR mutation-positive lung adenocarcinomas (LUAC). This study is aimed at developing and validating a radiomics-based machine learning (ML) approach to identify EGFR mutations in patients with LUAC. We retrospectively collected data from 201 patients with positive EGFR mutation LUAC (140 in the training cohort and 61 in the validation cohort). We extracted 1316 radiomics features from preprocessed CT images and selected 14 radiomics features and 1 clinical feature which were most relevant to mutations through filter method. Subsequently, we built models using 7 ML approaches and established the receiver operating characteristic (ROC) curve to assess the discriminating performance of these models. In terms of predicting EGFR mutation, the model derived from radiomics features and combined models (radiomics features and relevant clinical factors) had an AUC of 0.79 (95% confidence interval (CI): 0.77-0.82), 0.86 (0.87-0.88), respectively. Our study offers a radiomics-based ML model using filter methods to detect the EGFR mutation in patients with LUAC. This convenient and low-cost method may be of help to noninvasively identify patients before obtaining tumor sample for molecule testing.

Indigenous and commercial isolates of arbuscular mycorrhizal fungi display differential effects in Pyrus betulaefolia roots and elicit divergent transcriptomic and metabolomic responses.

Background: Arbuscular mycorrhizal fungi (AMF) are beneficial soil fungi which can effectively help plants with acquisition of mineral nutrients and water and promote their growth and development. The effects of indigenous and commercial isolates of arbuscular mycorrhizal fungi on pear (Pyrus betulaefolia) trees, however, remains unclear. Methods: Trifolium repens was used to propagate indigenous AMF to simulate spore propagation in natural soils in three ways: 1. the collected soil was mixed with fine roots (R), 2. fine roots were removed from the collected soil (S), and 3. the collected soil was sterilized with 50 kGy 60Co γ-radiation (CK). To study the effects of indigenous AMF on root growth and metabolism of pear trees, CK (sterilized soil from CK in T. repens mixed with sterilized standard soil), indigenous AMF (R, soil from R in T. repens mixed with sterilized standard soil; S, soil from S in T. repens mixed with sterilized standard soil), and two commercial AMF isolates (Rhizophagus intraradices(Ri) and Funneliformis mosseae (Fm)) inoculated in the media with pear roots. Effects on plant growth, root morphology, mineral nutrient accumulation, metabolite composition and abundance, and gene expression were analyzed. Results: AMF treatment significantly increased growth performance, and altered root morphology and mineral nutrient accumulation in this study, with the S treatment displaying overall better performance. In addition, indigenous AMF and commercial AMF isolates displayed common and divergent responses on metabolite and gene expression in pear roots. Compared with CK, most types of flavones, isoflavones, and carbohydrates decreased in the AMF treatment, whereas most types of fatty acids, amino acids, glycerolipids, and glycerophospholipids increased in response to the AMF treatments. Further, the relative abundance of amino acids, flavonoids and carbohydrates displayed different trends between indigenous and commercial AMF isolates. The Fm and S treatments altered gene expression in relation to root metabolism resulting in enriched fructose and mannose metabolism (ko00051), fatty acid biosynthesis (ko00061) and flavonoid biosynthesis (ko00941). Conclusions: This study demonstrates that indigenous AMF and commercial AMF isolates elicited different effects in pear plants through divergent responses from gene transcription to metabolite accumulation.

Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing.

Prenatal diagnosis of trisomy 20p seems to be difficult, considering the capacity of ultrasound to detect mild dysmorphic. NIPT has good performance in detecting fetal trisomy 20p combined with low coverage WGS and karyotype analysis.

Analysis of the effect of probucol-mecobalamin tablets combination on oxidative stress in patients with diabetic peripheral neuropathy.

OBJECTIVE: This research aimed to observe the effect of probucol combined with mecobalamin tablets on oxidative stress in patients with diabetic peripheral neuropathy (DPN). METHODS: In this prospective study, 104 patients with DPN who were treated in our hospital were included, from August 2018 to January 2020. They were divided into groups of combination (n = 52) and control (n = 52) by using a random number table. All patients took mecobalamin tablets after meals for 3 months (1 tablet/time, 3 times/d). On this basis, patients in the combination group took probucol for 3 months (4 tablets/time, 2 times/d). The observation indicators were the Toronto Clinical Scoring System (TCSS)(symptom, sensory, and reflex scores), nerve conduction velocity[sensory nerve conduction velocity (SNCV) and motor nerve conduction velocity(MNCV) of the common peroneal nerve and median nerve], oxidative stress indicators[superoxide dismutase(SOD), malondialdehyde(MDA), glutathione peroxidase(GSH-Px) and catalase(CAT)], clinical efficacy and adverse reactions. RESULTS: There was no significant difference in the symptom scores, sensory scores, reflex scores, and total scores between the two groups before treatment (p > 0.05), while these four indicators of the combination group were significantly lower than that in the control group after treatment (p < 0.05). These four indicators of the two groups after treatment were significantly lower than before treatment (p < 0.05). There was no significant difference in the SNCV and NMCV of the common peroneal nerve and median nerve between the two groups before treatment (p > 0.05), while the indicators of the combination group were significantly higher than that of the control group (p < 0.05) after treatment, and these indicators of the two groups after treatment were significantly higher than that before treatment (p < 0.05). There was no significant difference in SOD, MDA, GSH-Px, and CAT between the two groups before treatment (p > 0.05). After treatment, the SOD, GSH-Px, and CAT in the combination group were significantly higher than that in the control group (p < 0.05), while the MDA in the combination group was significantly lower than that in the control group (p < 0.05). After treatment, the SOD, GSH-Px, and CAT in the two groups were significantly higher than that before treatment (p < 0.05), while the MDA was lower (p < 0.05). The clinical efficacy of the combination group was significantly better than that of the control group (94.23 % vs 78.85 %, p＜0.05) after treatment. There was no significant difference in the incidence of total adverse reactions between the two groups (3.85 % vs 5.77 %, p > 0.05). CONCLUSION: The therapeutic effect of probucol combined with mecobalamin tablets for patients with DPN was significant, which could effectively improve the oxidative stress response of patients and was worthy of clinical promotion.

[Biocontrol potential of Talaromyces purpurogenus and its regulation on soil microbial community]. / äº§ç´«ç¯®çŠ¶èŒçš„ç”Ÿé˜²æ½œåŠ›åŠå ¶å¯¹åœŸå£¤å¾®ç”Ÿç‰©ç¾¤è½çš„è°ƒæŽ§.

Talaromyces purpurogenus strain Q2 is a kind of beneficial microbe originally separated from the rhizosphere of healthy cucumber. In this study, we evaluated the biocontrol potential of strain Q2 against four soil-borne diseases by plate confrontation culture, potting in the greenhouse. We further estimated the control efficacy of strain Q2 combined metam-sodium fumigation against Fusarium wilt of bitter gourd in the field. The mechanism of strain Q2 controlling bitter gourd wilt and regulating soil microbial community was examined by plate dilution culture, high throughput sequencing and quantitative PCR. The results showed that strain Q2 could efficiently reduce disease incidence of Fusarium wilt of bitter gourd, potato stem canker, black shank of tobacco and black root rot of tobacco in the green house. Its biocontrol efficacy on black shank of tobacco and bitter gourd wilt was 75.3% and 63.4%, respectively. Biocontrol efficacy of strain Q2 on bitter gourd wilt was 51.0% in the artificial disease nursery inoculated pathogen of bitter gourd wilt, while the control efficacy of strain Q2 combined with soil fumigation technology was more than 80% in the same experiment condition. Strain Q2 application and soil fumigation altered soil microbial community composition and recovery trend. Metam-sodium fumigation significantly reduced the abundances of Fusarium oxysporum and causal agent of bitter gourd wilt. Strain Q2 further suppressed the efficient recovery trend of the pathogen. After application of strain Q2, Penicillium was enriched in soil, as well as the beneficial microbes involved in the suppression of F. oxysporum, such as Bacillus and Gaiella. Overall, after soil fumigation, biocontrol efficacy of strain Q2 on soil-borne diseases such as Fusarium wilt could attribute to the formation of beneficial microbial communities in soil and inhibition of strain Q2 on growth and development of F. oxysporum.

[Isolation, screening and identification of anantagonistic actinomycetes to control Fusarium wilt of Momordica charantia]. / é˜²æ²»è‹¦ç“œæž¯èŽç— çš„æ‹®æŠ—æ”¾çº¿èŒåˆ†ç¦»ç­›é€‰åŠé‰´å®š.

Fusarium oxysporum f. sp. momordica was used as the target pathogenic fungus to screen actinomycetes that were isolated from rhizosphere soil of Momordica charantia by confrontation culture and antifungal tests of fermentation filtrate. The candidate strain 0250 had broad antifungal activity. According to cultural characteristics, physiological and biochemical properties, as well as average nucleotide identity analysis of the strains with similar homology, the strain 0250 was identified as Streptomyces rhizosphaericus. Its effects on growth promotion and control of bitter gourd wilt were evaluated in both greenhouse and field. The results showed that the plate inhibition percentage of S. rhizosphaericus strain 0250 against F. oxysporum f. sp. momordica was 69.2%, while the plate inhibition percentage against 17 plant pathogenic fungi reached 64.3%-85.6%. The suspension treatment of the strain could promote the growth and development of roots and stems and improve production of bitter gourd in pots and field. The control efficacy of Fusarium wilt of bitter gourd was 66.9% and 61.5%, respectively. When soils were treated with the strain 0250 suspension in advance and inoculated with the fungal pathogen, the inhibition percentage on the soil F. oxysporum reached 62.1%. The activity of phenylalanine ammonia-lyase, peroxidase and ß-1,3-glucanase as well as root activity were significantly improved in bitter gourd seedlings. In summary, strain 0250 is an actinomycetes resource with biocontrol potential to Fusarium wilt of bitter gourd.