ABSTRACT
Farnesyl diphosphate synthase(FPPS) is a key enzyme at the branch point of the sesquiterpene biosynthetic pathway, but there are no reports on the transcriptional regulation of FPPS promoter in Pogostemon cabin. In the early stage of this study, we obtained the binding protein PcFBA-1 of FPPS gene promoter in P. cabin. In order to explore the possible mechanism of PcFBA-1 involved in the regulation of patchouli alcohol biosynthesis, this study performed PCR-based cloning and sequencing analysis of PcFBA-1, analyzed the expression patterns of PcFBA-1 in different tissues by fluorescence quantitative PCR and its subcellular localization using the protoplast transformation system, detected the binding of PcFBA-1 protein to the FPPS promoter in vitro with the yeast one-hybrid system, and verified its transcriptional regulatory function by dual-luciferase reporter gene assay. The findings demonstrated that the cloned PcFBA-1 had an open reading frame(ORF) of 1 131 bp, encoding a protein of 376 amino acids, containing two conserved domains named F-box-like superfamily and FBA-1 superfamily, and belonging to the F-box family. Moreover, neither signal peptide nor transmembrane domain was contained, implying that it was an unstable hydrophilic protein. In addition, as revealed by fluorescence quantitative PCR results, PcFBA-1 had the highest expression in leaves, and there was no significant difference in expression in roots or stems. PcFBA-1 protein was proved mainly located in the cytoplasm. Furthermore, yeast one-hybrid screening and dual-luciferase reporter gene assay showed that PcFBA-1 was able to bind to FPPS promoter both in vitro and in vivo to enhance the activity of FPPS promoter. In summary, this study identifies a new transcription factor PcFBA-1 in P. cabin, which directly binds to the FPPS gene promoter to enhance the promoter activity. This had laid a foundation for the biosynthesis of patchouli alcohol and other active ingre-dients and provided a basis for metabolic engineering and genetic improvement of P. cabin.
Subject(s)
Amino Acid Sequence , Cloning, Molecular , Geranyltranstransferase/genetics , Pogostemon , Transcription Factors/geneticsABSTRACT
Objective:To investigate the clinical features, imaging features and gene mutation of a paitent with alanyl-transfer ribonucleic acid synthetase 2 (AARS2) gene mutation- related leukodystrophy and further improve the understanding of this rare disease.Methods:Clinical data of a patient with leukodystrophy associated with AARS2 gene mutation diagnosed in October 2020 at Xiamen Hospital of Beijing University of Chinese Medicine and Huashan Hospital of Fudan University were collected.Results:The male patient, 25 years old, was admitted with the clinical manifestations, including chronic onset dyskinesia, ataxia, nystagmus and psoriasis. Head magnetic resonance imaging (MRI) showed bilateral white matter lesions and cerebellar atrophy. Spine MRI showed vertebral body incomplete fusion. Gene detection showed heterozygous compound AARS2 gene mutation [c.985C>T chr6:44275041(p.R329C) and c.452T>C chr6:44279256(p.M151T)].Conclusions:AARS2 gene mutation-related leukodystrophy is a rare mitochondrial disease in clinical practice. The patient presented with progressive motor deficits in the lower limbs, ataxia, relatively retained cognitive function. MRI revealed abnormal symmetry of corpus callosum and bilateral paraventricular white matter. Heterozygous compound AARS2 gene mutations [c.985C>T chr6:44275041 (p.R329C) and c.452T>C chr6:44279256 (p.M151T)] are one of the pathogenic factors leading to hereditary leukodystrophy.
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Objective@#To explore a predictive nomogram for the result of prostate biopsy based on Prostate Imaging Reporting and Data System version 2(PI-RADS v2)combined with prostate specific antigen (PSA) and its related parameters, and to assess its ability to diagnose prostate cancer by internal validation.@*Methods@#We retrospectively analyzed the clinical data of 509 patients who underwent transrectal prostate biopsy guided by ultrasound during the period from January 2014 to December 2018 in the Department of Urology, First Affiliated Hospital of Xiamen University. In 509 cases, the mean age was (68.1±7.2) years. The mean prostate volume(PV) was (55.8±30.7) ml. The mean tPSA value was (19.86±18.94) ng/ml. The mean value of fPSA was (2.63±3.60) ng/ml and the mean f/tPSA was 0.14±0.08. The mean PSAD was (0.46±0.52) ng/ml2. Based on the PI-RADS v2, score 1 point have 37 cases, score 2 point have 131 cases, score 3 point have 152 cases, score 4 point have 102 cases, score 5 point have 87 cases. Of these patients, we randomly selected 80% (407 cases) as development group, and the other 20% (102 cases) as validation group. Univariate and multivariate logistic regression analysis of the development group was performed to identify the independent influence factors that can predict prostate cancer (PCa), thereby establishing a predictive model for the result of prostate biopsy. In the development group, validation group and tPSA was between 4.1-20.0 ng/ml, the model was evaluated by analyzing the receiver operating characteristic (ROC) curve, calibration curve and decision curve, and compared to PSA, fPSA, f/tPSA, PSAD, PI-RADS v2.@*Results@#Among the 509 patients enrolled in the study, the detection rate of PCa was 43.0% (219/509). In the development group, the logistic regression analysis demonstrated that patient age (OR=1.113), f/tPSA (OR=0.004), PV (OR=0.986), PSAD (OR=11.023), digital rectal examination (DRE) texture (OR=2.295), transabdominal ultrasound (TAUS) with or without hypoechoic (OR=2.089), and PI-RADS v2 (OR=1.920) were independent factors for PCa (P<0.05). The nomogram based on all variables was established. In the development group, the area under the curve (AUC) of the model (0.883) was greater than those of tPSA (0.686), fPSA (0.593), f/tPSA (0.626), PSAD (0.777), PI-RADS v2 (0.761). In the validation group, the area under the curve of the model (0.839) was greater than those of tPSA (0.758), fPSA (0.666), f/tPSA (0.648), PSAD (0.832), PI-RADS v2 (0.803). In patients whose tPSA was between 4.1-20.0 ng/ml, the area under the curve of the model (0.801) was greater than those of tPSA (0.570), fPSA (0.426), f/tPSA (0.657), PSAD (0.707), PI-RADS v2 (0.701). The calibration curve of the nomogram indicated that the prediction curve was basically fitted to the standard curve, and the Hosmer-Lemeshow showed thatχ2=5.434, P=0.710, both suggested that the prediction model had better calibration ability. The decision curve showed that the model based on PI-RADS v2 had high clinical application value.@*Conclusions@#The nomogram based on PI-RADS v2 had a high predictive value for prostate cancer and could significantly improve the diagnostic performance. It had better diagnostic value than PSA and its related parameters. It also provided important guidance for the prostate cancer on clinical treatment of patients to some extent.
ABSTRACT
Objective To explore a predictive nomogram for the result of prostate biopsy based on Prostate Imaging Reporting and Data System version 2 (PI-RADS v2) combined with prostate specific antigen (PSA) and its related parameters,and to assess its ability to diagnose prostate cancer by internal validation.Methods We retrospectively analyzed the clinical data of 509 patients who underwent transrectal prostate biopsy guided by ultrasound during the period from January 2014 to December 2018 in the Department of Urology,First Affiliated Hospital of Xiamen University.In 509 cases,the mean age was (68.1 ± 7.2) years.The mean prostate volume (PV) was (55.8 ± 30.7) ml.The mean tPSA value was (19.86 ± 18.94) ng/ml.The mean value of fPSA was (2.63 ± 3.60) ng/ml and the mean f/tPSA was 0.14 ± 0.08.The mean PSAD was (0.46 ±0.52) ng/ml2.Based on the PI-RADS v2,score 1 point have 37 cases,score 2 point have 131 cases,score 3 point have 152 cases,score 4 point have 102 cases,score 5 point have 87 cases.Of these patients,we randomly selected 80％ (407 cases) as development group,and the other 20％ (102 cases) as validation group.Univariate and multivariate logistic regression analysis of the development group was performed to identify the independent influence factors that can predict prostate cancer (PCa),thereby establishing a predictive model for the result of prostate biopsy.In the development group,validation group and tPSA was between 4.1-20.0 ng/ml,the model was evaluated by analyzing the receiver operating characteristic (ROC) curve,calibration curve and decision curve,and compared to PSA,fPSA,f/tPSA,PSAD,PI-RADS v2.Results Among the 509 patients enrolled in the study,the detection rate of PCa was 43.0％ (219/509).In the development group,the logistic regression analysis demonstrated that patient age (OR =1.113),f/tPSA (OR =0.004),PV (OR =0.986),PSAD (OR =11.023),digital rectal examination (DRE) texture (OR =2.295),transabdominal ultrasound (TAUS) with or without hypoechoic (OR =2.089),and PI-RADS v2 (OR =1.920) were independent factors for PCa (P ＜0.05).The nomogram based on all variables was established.In the development group,the area under the curve (AUC) of the model (0.883) was greater than those of tPSA (0.686),fPSA (0.593),f/tPSA (0.626),PSAD (0.777),PI-RADS v2 (0.761).In the validation group,the area under the curve of the model (0.839) was greater than those of tPSA (0.758),fPSA (0.666),f/tPSA (0.648),PSAD (0.832),PI-RADS v2 (0.803).In patients whose tPSA was between 4.1-20.0 ng/ml,the area under the curve of the model (0.801) was greater than those of tPSA (0.570),fPSA (0.426),f/tPSA (0.657),PSAD (0.707),PI-RADS v2 (0.701).The calibration curve of the nomogram indicated that the prediction curve was basically fitted to the standard curve,and the Hosmer-Lemeshow showed thatx2 =5.434,P =0.710,both suggested that the prediction model had better calibration ability.The decision curve showed that the model based on PI-RADS v2 had high clinical application value.Conclusions The nomogram based on PI-RADS v2 had a high predictive value for prostate cancer and could significantly improve the diagnostic performance.It had better diagnostic value than PSA and its related parameters.It also provided important guidance for the prostate cancer on clinical treatment of patients to some extent.
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From January 2015 to June 2016,107 patients with varicocele underwent microsurgical varicocelectomy in the First Affiliated Hospital of Xiamen University.The clinical outcomes of microsurgical varicocelectomy with(n=56)or without(n=51)microvascular Doppler ultrasonography were compared. All patients were treated successfully by both methods and no postoperative complications such as testicular atrophy and/or hydrocele were found during 12 months postoperative follow-up.For the group without microvascular Doppler,accidental artery ligation occurred in 2 cases and the internal spermatic vessels were unidentifiable in 4 cases, and recurrence occurred in one case.By contrast, no artery injury or ligation occurred during the operation with microvascular Doppler, and no recurrence occurred postoperatively. Microvascular Doppler ultrasonography, which is reliable for discerning arteries and veins, can effectively and safely assist microsurgical varicocelectomy for treatment of varicocele.
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Objective To compare the clinical efficacies between warm needling and Ibuprofen sustained release capsules (a nonsteroidal anti-inflammatory drug, NSAID) in treating patients with dysmenorrhea in adenomyosis. MethodSixty-five patients with dysmenorrhea induced by adenomyosis were randomized into a treatment group of 33 cases and a control group of 32 cases. The control group was intervened by oral administration of Ibuprofen sustained release capsules, while the treatment group was intervened by warm needling.The intervention lasted 3 menstrual cycles and a 3-month follow-up was studied. The Visual Analogue Scale (VAS), dysmenorrhea symptoms scores and clinical efficacy were compared between the two groups.ResultThe VAS scores after the intervention and inthe first and second months of the follow-up study were significantly different from the pre-treatment score in the two groups (P<0.01); the VAS score of the 3-month follow-up was significantly different from the score before the intervention in the treatment group (P<0.01). There were significant differences in comparing the VAS score after the intervention and in the follow-up study between the two groups (P<0.01), and the treatment group was superior to the control group. The dysmenorrhea symptoms scoresdeclined significantly after the intervention and in the first and second months of the follow-up study in both groups (P<0.01); the dysmenorrhea symptoms score of the 3-month follow-up study decreased in the treatment group and was significantly different from the pre-treatment score (P<0.01). There were significant differences in comparing the dysmenorrhea symptoms scores in the second and third months of the follow-up study between the two groups (P<0.01). The total effective rate was 93.9% in the treatment group, significantly better than 62.5% in the control group (P<0.01).ConclusionWarm needling is effective in easing pain and improving the symptoms of dysmenorrhea in adenomyosis, and can produce a consistent efficacy after the termination of thetreatment; it's superior to NSAIDs in comparing both short-term and long-term treatment efficacies.