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1.
Chinese Journal of Pharmacology and Toxicology ; (6): 520-520, 2023.
Artigo em Chinês | WPRIM | ID: wpr-992200

RESUMO

OBJECTIVE The abnormal amyloid-β(Aβ)and oxidative stress assiociated with the progression of Alzheimer disease(AD).Quercetin has been reported to possess antioxidant and anti-inflammatory properties in neurodegenerative disorders.In this present study,we designed to characterize the mechanisms by which quer-cetin exerts neuroprotective effects in murine neuroblas-toma N2a cells stably expressing human Swedish mutant amyloid precursor protein(N2a/APP).METHODS N2a/APP cells were treated with quercetin at concentrations of 10,20 and 50 μ mol·L-1 for 24 h.Cell viability was examined with CCK-8 assays.The protein levels of ERK1/2 and Akt were detected by Western blotting.Intra-cellular reactive oxygen species(ROS)was detected by a fluorescent probe 2,7-dichlorofluorescein diacetate(DCFH-DA).The mitochondrial membrane potential(Δψ m)in N2a/APP cells was detected by using JC-1 staining method.Immunofluorescence was used to detect the generation of 8-hydroxy-2′-deoxyguanosine(8-OHdG)and 4-hydroxynonenal(4-HNE).RESULTS Quercetin attenuated the enhancement of p-ERK1/2,reductions of p-Akt,and decreased levels of APP expression.More-over,quercetin alleviated loss of mitochondria membrane potential(MMP)since it attenuates these oxidative stress,as reflected in the levels of ROS,4-HNE and 8-OHdG,was elevated in N2a/APP cells and these effects were again ameliorated by quercetin.CONCLUSION Neuroprotection by quercetin in N2a/APP cells involves normalizing the impaired mitochondrial function and reducing oxidative stress via inactivation of the ERK1/2 and activation of the Akt pathways.

2.
Chinese Journal of Natural Medicines (English Ed.) ; (6): 36-46, 2023.
Artigo em Inglês | WPRIM | ID: wpr-971662

RESUMO

Bavachin is a dihydroflavonoid compound isolated from Psoralea corylifolia, and exhibits anti-bacterial, anti-inflammatory, anti-tumor and lipid-lowering activities. Recent attention has gradually drawn on bavachin-induced apoptosis in many human cancer cell lines. However, the anti-cancer effects and related mechanisms in colorectal cancer remain unknown. Here, we investigated the effects of bavachin on colorectal cancer in vivo and in vitro. The results showed that bavachin inhibited the proliferation of human colorectal cancer cells and induce apoptosis. These changes were mediated by activating the MAPK signaling pathway, which significantly up-regulated the expression of Gadd45a. Furthermore, Gadd45a silencing obviously attenuated bavachin-mediated cell apoptosis. Inhibition of the MAPK signaling pathway by JNK/ERK/p38 inhibitors also weakened the up-regulation of Gadd45a by bavachin. The anticancer effect of bavachin was also validated using a mouse xenograft model of human colorectal cancer. In conclusion, these findings suggest that bavachin induces the apoptosis of colorectal cancer cells through activating the MAPK signaling pathway.


Assuntos
Humanos , Transdução de Sinais , Flavonoides/farmacologia , Proteínas/farmacologia , Sistema de Sinalização das MAP Quinases , Neoplasias Colorretais/metabolismo , Apoptose , Linhagem Celular Tumoral , Proliferação de Células , Proteínas de Ciclo Celular/farmacologia
3.
China Journal of Chinese Materia Medica ; (24): 140-147, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970509

RESUMO

This study used the zebrafish model to explore the hepatotoxicity of Rhododendri Mollis Flos(RMF). The mortality was calculated according to the number of the survival of zebrafish larvae 4 days after fertilization under different concentration of RMF, and the dose-toxicity curve was fitted to preliminarily evaluate the toxicity of RMF. The liver phenotypes under the sublethal concentration of RMF in the treatment group and the blank control group were observed by hematoxylin-eosin(HE) staining and acridine orange(AO) staining. Meanwhile, the activities of alanine aminotransferase(ALT) and aspartate aminotransferase(AST) were determined to confirm the hepatotoxicity of RMF. Real-time quantitative polymerase chain reaction(real-time PCR) and Western blot were used to determine the expressions of genes and proteins in zebrafish larvae. Gas chromatography time-of-flight mass spectrometry(GC-TOF-MS) was used to conduct untargeted metabolomics testing to explore the mechanism. The results showed that the toxicity of RMF to zebrafish larvae was dose-dependent, with 1 100 μg·mL~(-1) of the absolute lethal concentration and 448 μg·mL~(-1) of sublethal concentration. The hepatocyte apoptosis and degeneration appeared in the zebrafish larvae under the sublethal concentration of RMF. The content of ALT and AST in zebrafish larvae at the end of the experiment was significantly increased in a dose-dependent manner. Under the sublethal concentration, the expressions of genes and proteins related to apoptosis in zebrafish larvae were significantly increased as compared with the blank control group. The results of untargeted metabolomics showed that the important metabolites related to the he-patotoxicity of RMF were mainly enriched in alanine, aspartic acid, glutamic acid, and other pathways. In conclusion, it is inferred that RMF has certain hepatotoxicity to zebrafish larvae, and its mechanism may be related to apoptosis.


Assuntos
Animais , Peixe-Zebra/genética , Apoptose , Larva , Doença Hepática Induzida por Substâncias e Drogas
4.
Acta Pharmaceutica Sinica ; (12): 560-570, 2023.
Artigo em Chinês | WPRIM | ID: wpr-965640

RESUMO

The active ingredient of traditional Chinese medicine, silybin (SBN), can inhibit the proliferation of cancer cells and enhance the anticancer effect of doxorubicin (DOX). However, due to non-targeting and short half-life of SBN and DOX, as well as different administration routes and pharmacokinetic processes, this combination drug cannot act on the tumor in the set order, seriously eliminating the synergistic effect between them and limiting the effect in vivo. Therefore, we intended to construct a nano-delivery system based on molybdenum disulfide (MoS2), modified by polyethylene glycol (PEG) and sialic acid (SA), and co-loaded with SBN and DOX. The system induced the release of combined drugs under the dual-stimulation of pH and near infra-red (NIR), increased the free concentration of intracellular drugs, so as to achieve the synergistic effect between them. The animal welfare and experimental procedures were in accordance with the regulations of the Animal Ethics Committee of Fujian University of Traditional Chinese Medicine. MoS2-PEG-SA-SBN/DOX circulated in vivo, and effectively accumulated at tumor sites through enhanced permeability and retention effect (EPR) and SA-mediated active targeting. Under near infrared light irradiation, MoS2-PEG-SA-SBN/DOX realized the combination of synergistic chemotherapy and photothermal therapy for tumor, thus achieving excellent anti-tumor effect in vivo. This study can provide a new idea and strategy for the clinical treatment of lung cancer. Taken together, MoS2-PEG-SA-SBN/DOX can offer a new idea and strategy for the clinical treatment of lung cancer.

5.
Chinese Journal of Biotechnology ; (12): 1290-1303, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981138

RESUMO

Live biotherapeutic products (LBPs) refer to the living bacteria derived from human body intestinal gut or in nature that can be used to treat the human disease. However, the naturally screened living bacteria have some disadvantages, such as deficient therapeutic effect and great divergence, which fall short of the personalized diagnosis and treatment needs. In recent years, with the development of synthetic biology, researchers have designed and constructed several engineered strains that can respond to external complex environmental signals, which speeded up the process of development and application of LBPs. Recombinant LBPs modified by gene editing can have therapeutic effect on specific diseases. Inherited metabolic disease is a type of disease that causes a series of clinical symptoms due to the genetic defect of some enzymes in the body, which may cause abnormal metabolism the corresponding metabolites. Therefore, the use of synthetic biology to design LBPs targeting specific defective enzymes will be promising for the treatment of inherited metabolic defects in the future. This review summarizes the clinic applications of LBPs and its potential for the treatment of inherited metabolic defects.


Assuntos
Humanos , Bactérias/genética , Edição de Genes , Doenças Metabólicas/terapia
6.
Chinese Journal of Blood Transfusion ; (12): 1025-1028, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1004694

RESUMO

【Objective】 To investigate the preparation quality and clinical application effect of pooled platelets with leukocytes reduced. 【Methods】 The quality and clinical effect of the buffy-coated method prepared pooled platelets leukocytes reduced (experimental group, n=40) and apheresis platelets leukocytes reduced (control group, n=40) were compared. 【Results】 The platelet volume (mL), platelet count (×1011), red blood cell contamination (×108) and residual white blood cell (×106) of the experimental group and control group were 278.90±7.92 vs 276.52±8.01, 2.66±0.09 vs 2.66±0.83, 0.54±0.42 vs 0.83±0.84, 0.29±0.54 vs 0.27±0.51, respectively, with no significant difference. The results of bacterial culture were negative, all met the requirements of relevant national standards. In addition, the CCI (×103, 24 h) and PPR (%) were 15.11±9.86 vs 14.61±12.55 and 54.23±18.70 vs 61.41±19.09 respectively, with no significant difference, indicating a certain degree of therapeutic effect. 【Conclusion】 The quality and clinical therapeutic effect of pooled platelets leukocytes reduced were consistent with that of apheresis platelets leukocytes reduced.

7.
Journal of Central South University(Medical Sciences) ; (12): 1769-1774, 2022.
Artigo em Inglês | WPRIM | ID: wpr-971363

RESUMO

Ulnar-Mammary syndrome (UMS) is a rare monogenic disorder caused by mutations of the TBX3 gene. This paper reported a family of UMS. The proband, a 15-year old man, was presented with mammary gland dysplasia, ulnar limb defect, short stature, and delayed growth. Whole exome sequencing revealed a 1294_1301dup mutation in exon 6 of the TBX3 gene. Sanger sequencing was used to verify other members of the family, which suggested his mother also carried the same mutation, but merely resulting in the dysplasia of her left little finger. Notably, unilateral finger involvement without any systemic organ involvement was unusual in UMS patients. The proband then was treated with recombinant human growth hormone (rhGH) and human chorionic gonadotropin (hCG). After a year and a half, his height and secondary sexual characteristics were significantly improved. The clinical manifestations of the disease are highly heterogeneous, which is easy to be misdiagnosed and missed. When the diagnosis is unclear, genetic testing is helpful for auxiliary diagnosis.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Proteínas com Domínio T/genética , População do Leste Asiático , Doenças Mamárias/genética , Mutação
8.
Chinese Journal of Radiation Oncology ; (6): 1147-1152, 2022.
Artigo em Chinês | WPRIM | ID: wpr-956964

RESUMO

Objective:To investigate the regulatory effect of miR-26a in radiation-induced heart disease (RIHD) mice.Methods:C57/BL6 mice were used to establish RIHD models. The cardiac function, fibrosis, the expression levels of collagen 1 (COL1) and connective tissue growth factor (CTGF), and miR-26a were detected in RIHD mice. Whether CTGF was the target gene of miR-26a was verified by dual luciferase kit. Moreover, cardiac fibroblasts were transfected with miR-26a up and miR-26a down lentivirus vectors to construct the miR-26a overexpression and underexpression cell models. The expression of CTGF, proliferation, and apoptosis of cardiac fibroblasts were detected.Results:In the RIHD mice, heart function was decreased, myocardial fibrosis was remodeled, the expression levels of COL1 and CTGF were up-regulated, and the expression level of miR-26a was down-regulated. Dual luciferase reporter assay confirmed that CTGF was the target gene regulated by miR-26a. Overexpression of miR-26a could inhibit the expression of CTGF, suppress the proliferation of cardiac fibroblasts, promote cell apoptosis and secrete collagen. Underexpression of miR-26a yielded the opposite results.Conclusion:MiR-26a affects the function of cardiac fibroblasts by targeting CTGF and probably mediates the process of radiation-induced myocardial fibrosis, which may become a new regulatory target of RIHD.

9.
Journal of Southern Medical University ; (12): 171-180, 2022.
Artigo em Chinês | WPRIM | ID: wpr-936299

RESUMO

OBJECTIVE@#To study the therapeutic mechanism of Longqi Fang (LQF) for diabetic kidney disease (DKD) based on GEO database and network pharmacology.@*METHODS@#LQF and DKD targets were obtained using the databases including GEO, TCMSP, CNKI, ChemDraw, and SwissTarget Prediction, and LQF-DKD intersection targets were obtained with VENNY. String was used for protein-protein interaction (PPI) analysis, and R package for KEGG and GO enrichment analysis. Cytoscape 3.7.2 software Network graphs were constructed. The results of network pharmacology analysis were verified in SD rat models of DKD by daily treatment of the rats with LQF at low (1 g/kg), medium (2 g/kg), and high (2 g/kg) doses, and kidney pathology was observed with HE staining and the changes in renal function were assessed. Western blotting was used to detect the expression levels of NF-κB and p-NF-κB proteins.@*RESULTS@#We identified 760 main targets of LQF, and obtained 1026 differential genes using GEO database and 61 LQF-DKD intersection targets using Venny database. The core targets obtained through PPI network analysis included Myc, EGF, CASP3, VEGFA, CCL2, SPP1, VCAM1 and ICAM1. Go analysis showed that LQF affects mainly nuclear receptor activity and ligand activated transcription factor activity. KEGG analysis showed that LQF affects inflammatory signaling pathways by interfering with NF-κB, TNF, and PI3K-AKT. In rat models of DKD, treatment with LQF resulted in significant improvements of the renal functions (P < 0.05) and glomerular and tubular structure and arrangement in a dose-dependent manner. Western blotting results showed that LQF dose-dependently downregulated NF-κB and p-NF-κB expressions in the rat models.@*CONCLUSION@#The therapeutic mechanism of LQF for DKD involves multiple components, targets and signal pathways that mediate an inhibitory effect on NF-κB signaling pathway to protect the renal function.


Assuntos
Animais , Ratos , Diabetes Mellitus , Nefropatias Diabéticas/metabolismo , Farmacologia em Rede , Fosfatidilinositol 3-Quinases/metabolismo , Mapas de Interação de Proteínas , Ratos Sprague-Dawley
10.
Journal of Clinical Hepatology ; (12): 1780-1783, 2022.
Artigo em Chinês | WPRIM | ID: wpr-941536

RESUMO

Objective To investigate the effect of Huatan Qushi Huoxue prescription on the ultrastructure of hepatocyte mitochondria in a rat model of nonalcoholic steatohepatitis (NASH). Methods A total of 48 male Sprague-Dawley rats were randomly divided into blank group, model group, Yishanfu group, and Huatan Qushi Huoxue prescription group, with 12 rats in each group. The rats in the model group and the drug groups were administered and modeled since week 2; the rats in the blank group were given normal diet, and those in the other three groups were given high-fat diet. Based on dose conversion between human and animal, the equivalent dose of Huatan Qushi Huoxue prescription was 1.26 g/100 g body weight, and the equivalent dose of polyene phosphatidylcholine capsules (Yishanfu) was 0.014 18 g/100 g body weight. The rats in the model group were given 0.9% sodium chloride by gavage, those in the Yishanfu group were given polyene phosphatidylcholine suspension by gavage, and those in the traditional Chinese medicine group were given the granules of Huatan Qushi Huoxue prescription by gavage, once a day for 10 consecutive weeks. A transmission electron microscope was used to observe liver ultrastructure and perform a quantitative analysis. A one-way analysis of variance was used for comparison of continuous data between multiple groups; for further pairwise comparison, the least significant difference t -test was used for data with homogeneity of variance, and the Dunnett's T3 was used for data with heterogeneity of variance. Results The model group had a large number of lipid droplets accumulated in hepatocytes, changes in mitochondrial morphology and structure, and reductions in the number of mitochondria and endoplasmic reticulum. The Huatan Qushi Huoxue prescription group had a significant reduction in lipid droplets in hepatocytes and significant increases in the number of mitochondria and endoplasmic reticulum compared with the model group, with intact mitochondrial membrane and structure. The Yishanfu group had a reduction in lipid droplets in hepatocytes, an increase in the number of mitochondria, and a reduction in the number of endoplasmic reticulum, with relatively intact mitochondrial membrane and structure. The quantitative analysis showed that compared with the blank group, the model group had a significant increase in the area of lipid droplets and a significant reduction in mitochondria, with a significant difference in mitochondrial density between the two groups (all P < 0.01); after drug intervention, the Yishanfu group had a significant reduction in the area of lipid droplets and a significant increase in the number of mitochondria, with a significant difference in mitochondrial density between the Yishanfu group and the model group (all P < 0.01); compared with the Yishanfu group, the traditional Chinese medicine group had a significantly greater reduction in the area of lipid droplets and a significant increase in the number of mitochondria, with a significant difference in mitochondrial density between the two groups (all P < 0.05). Conclusion Huatan Qushi Huoxue prescription can improve lipid accumulation, increase mitochondrial density, and protect mitochondrial structure and function, with a better clinical effect than Yishanfu.

11.
Journal of Clinical Hepatology ; (12): 2425-2428, 2021.
Artigo em Chinês | WPRIM | ID: wpr-904963

RESUMO

Metabolic disorders are observed in women after menopause, and the postmenopausal women suffering from chronic liver diseases have an increased risk of progression to liver fibrosis, with a higher risk than male patients of the same age, which may be associated with the decline of ovarian function and the reduction of estrogen level after menopause. This article summarizes the research advances in the molecular mechanism of progression to liver fibrosis from the aspects of estrogen and oxidative stress, activation of hepatic stellate cells, accumulation of extracellular matrix, and immune regulation. It is pointed out supplementation with an appropriate amount of estrogen in the perimenopausal period and the early menopausal period can reduce the risk of liver fibrosis and delay or even reverse the process of liver fibrosis, thereby improving quality of life and prolonging survival time in elderly female patients.

12.
Journal of Clinical Hepatology ; (12): 2425-2428, 2021.
Artigo em Chinês | WPRIM | ID: wpr-904913

RESUMO

Metabolic disorders are observed in women after menopause, and the postmenopausal women suffering from chronic liver diseases have an increased risk of progression to liver fibrosis, with a higher risk than male patients of the same age, which may be associated with the decline of ovarian function and the reduction of estrogen level after menopause. This article summarizes the research advances in the molecular mechanism of progression to liver fibrosis from the aspects of estrogen and oxidative stress, activation of hepatic stellate cells, accumulation of extracellular matrix, and immune regulation. It is pointed out supplementation with an appropriate amount of estrogen in the perimenopausal period and the early menopausal period can reduce the risk of liver fibrosis and delay or even reverse the process of liver fibrosis, thereby improving quality of life and prolonging survival time in elderly female patients.

13.
Journal of Zhejiang University. Medical sciences ; (6): 561-567, 2021.
Artigo em Inglês | WPRIM | ID: wpr-922259

RESUMO

: To investigate the protective effect of (FD) against ethanol-induced gastric ulcer and its mechanism. : Human gastric epithelial GES-1 cells were divided into normal control group, model control group, FD 95% alcohol extract group, FD 50% alcohol extract group and FD decoction extract group. Gastric ulcer was induced by treatment with 1% ethanol in GES-1 cells. The cell proliferation was detected with MTT method in each group. Sixty SD rats were randomly divided into normal control group, model control group, ranitidine group and low-dose, medium-dose, high-dose FD 95% alcohol extract groups (150, 300, 600 mg/kg). The corresponding drugs were administrated by gavage for The gastric ulcer model was induced by intragastric administration of anhydrous ethanol. The gastric ulcer area and ulcer inhibition rate of rats were measured in each group; the degree of gastricmucosal damage was observed by scanning electron microscopy; the levels of tumor necrosis factor (TNF)-α, interleukin (IL)-6, IL-1β in serum and the content of malondialdehyde (MDA), superoxide dismutase (SOD), glutathione (GSH), catalase (CAT) in gastric tissues were detected by ELISA method. : 95% alcohol extract of FD had the strongest protective effect on proliferation of GES-1 cells. In animal experiments, compared with the normal control group, a large area of ulcers appeared on the gastric mucosa in the model control group, while the ulcer areas of the FD groups and ranitidine group were significantly smaller than that of the model control group (all <0.05). Compared with the model control group, FD groups and ranitidine group significantly reduced the levels of TNF-α, IL-1β, IL-6 in serum and the MDA content in the gastric tissues, and increased the activity of SOD, CAT and GSH in gastric tissues (all <0.05). : The 95% alcohol extract of FD can reduce the levels of TNF-α, IL-1β and IL-6 in serum and the content of MDA in gastric tissues, and increase the activity of SOD, CAT and GSH in gastric tissues to achieve the protective effect against gastric ulcer.


Assuntos
Animais , Ratos , Etanol/toxicidade , Mucosa Gástrica , Malondialdeído , Ratos Sprague-Dawley , Úlcera Gástrica/prevenção & controle , Superóxido Dismutase
14.
Chinese Journal of Radiation Oncology ; (6): 1078-1083, 2021.
Artigo em Chinês | WPRIM | ID: wpr-910517

RESUMO

Objective:To investigate the regulatory role of microRNA in radiation-induced heart disease (RIHD) in mice and provide a new strategy for its treatment.Methods:Based on the Gene Expression Omnibus database (GSE147241), which includes normal heart tissue and irradiation heart tissue, we conducted bioinformatics research and analysis to determine the differentially-expressed genes. Then, thirty male C57/BL6 mice were randomly divided into the control group, irradiation group and miR-133a overexpression intervention group. The heart received single dose of X-ray 20 Gy in the irradiation group and miR-133a overexpression intervention group, but not in the control group, and then fed for 16 weeks. Cardiac function was assessed by echocardiography. Myocardial fibrosis was detected by Masson staining. The expression levels of miR-133a, CTGF, COL-1 and COL-3 mRNA were detected by qRT-PCR. The expression levels of CTGF, COL-1 and COL-3 proteins were detected by western blot.Results:miR-133a was the differentially-expressed gene between the irradiation and control groups. Overexpression of miR-133a could mitigate the decrease in cardiac function and increase in myocardial collagen content ( P<0.01). Meantime, overexpression of miR-133a could down-regulate the expression levels of CTGF, COL-1, COL-3 mRNA and protein ( P<0.01). Conclusions:Radiation increases the synthesis of collagen and leads to myocardial fibrosis remodeling. Overexpression of miR-133a can alleviate the radiation-induced myocardial fibrosis.

15.
Chinese Journal of Hospital Administration ; (12): 831-837, 2021.
Artigo em Chinês | WPRIM | ID: wpr-934514

RESUMO

Based on the GAPS(goal, analyze, problem, solution) management model, the authors analyzed the problems existing in the practice of prescription audit and the strategies of continuous optimization. Multi-disciplinary team(MDT) and evidence-based practice were applied to help the continuous optimization of prescription audit practice and promote the rational drug use management of medical institutions. Through the establishment of accurate control process, the personalized management of prescription dosage of chronic diseases, perioperative drugs, special grade antibiotics and auxiliary drugs was realized. The practice of prescription audit based on the GAPS management model, on the one hand, could improve the quality and efficiency of prescription audit, gradually improve the qualified rate of prescription, strengthen clinical use intervention and promote rational drug use; On the other hand, it could reflect the value of pharmacists′ professional technicians, provide patients with more high-quality pharmaceutical care, and gradually realize the prescription audit mode of " improving quality, controlling cost and increasing efficiency" .

16.
Chinese Journal of Medical Genetics ; (6): 833-837, 2021.
Artigo em Chinês | WPRIM | ID: wpr-921949

RESUMO

OBJECTIVE@#To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA).@*METHODS@#Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed.@*RESULTS@#Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations.@*CONCLUSION@#The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.


Assuntos
Humanos , Albinismo Oculocutâneo/genética , Consanguinidade , Heterozigoto , Mutação , Linhagem
17.
Chinese Journal of Schistosomiasis Control ; (6): 36-46, 2020.
Artigo em Chinês | WPRIM | ID: wpr-812933

RESUMO

Objective To analyze the sequences of the cytochrome C oxidase subunit I (Cox1) gene of various Echinococcus granulosus genotypes that are currently recorded in the GenBank database, so as to investigate the genetic variation and differentiation of the E. granulosus genotypes across the world. Methods The sequences of the Cox1 gene of various E. granulosus genotypes that are currently recorded in the GenBank database were collected, and the same sequences of the Cox1 gene identified from a region were excluded. The mutation sites among the Cox1 gene sequences were identified and a phylogenetic tree was created based on the Cox1 gene. Results Transversion mutation was the predominant type of mutation in the Cox1 gene of E. granulosus. The same Cox1 gene sequence was found in E. granulosus G1, G6 and G7 genotypes isolated from various geographical locations across the world, with the corresponding GenBank accession numbers of KY766891, MH300971 and MH301007, respectively. Phylogenetic analysis revealed that E. granulosus G10 genotype had a remarkable geographical aggregation. Conclusions E. granulosus G1, G6 and G7 genotypes have primitive Cox1 gene sequences. There is a geographical aggregation of the E. granulosus G10 genotype in the phylogenetic tree, which has a tendency towards reproductive isolation.

18.
Chinese Journal of Nuclear Medicine and Molecular Imaging ; (6): 27-31, 2020.
Artigo em Chinês | WPRIM | ID: wpr-798839

RESUMO

Objective@#To investigate the value of 18F-fluorodeoxyglucose (FDG) PET/CT imaging and cardiac MRI (CMR) in the diagnosis of radiation-induced heart disease (RIHD) in Beagle models.@*Methods@#Twenty-four normal male Beagle dogs (1-year old) were randomly divided into control group and irradiated groups (3-month, 6-month and 12-month after radiation). The left anterior myocardium of Beagle dogs in irradiated groups was irradiated locally with a single dose of 20 Gy X-ray. Cardiac 18F-FDG PET/CT imaging and CMR were performed on all dogs, and the mean standardized uptake value (SUVmean) and the area of lesions with increased 18F-FDG uptake were obtained. After imaging examinations were finished, dogs were sacrificed and their hearts were taken out to perform Masson staining and electron microcopy. One-way analysis of variance was used for data analysis.@*Results@#There was basically no uptake in myocardium in control group. The myocardium showed increased uptake of 18F-FDG in the irradiated groups. The SUVmean of myocardium in 3-month, 6-month and 12-month after radiation groups and control group were 5.90±1.31, 4.66±2.21, 3.21±0.82 and 1.13±0.21, respectively (F=11.81, P<0.05). The area with increased 18F-FDG uptake in the irradiated groups decreased progressively with the prolongation of irradiation time (F=195.74, P<0.01). The reduction in myocardial perfusion and myocardial fibrosis were observed by CMR early at 6-month after irradiation. Compared with the control group, the 6-month and 12-month after radiation groups had increased end diastolic volume (EDV) and end systolic volume (ESV; F=15.479 and 16.908, both P<0.01), and decreased left ventricular ejection fraction (LVEF; F=63.715, P<0.01). The progressive aggravation of myocardial fibrosis was displayed in irradiated groups by Masson staining. The mitochondria degeneration, swelling and the count reduction in irradiated groups were observed by electron microscopy.@*Conclusions@#The increased 18F-FDG uptake in the irradiated myocardium may predict the risk of RIHD. 18F-FDG PET/CT imaging can detect RIHD earlier than CMR.

19.
Chinese Medical Journal ; (24): 1044-1050, 2020.
Artigo em Inglês | WPRIM | ID: wpr-827698

RESUMO

BACKGROUND@#The ongoing new coronavirus pneumonia (Corona Virus Disease 2019, COVID-19) outbreak is spreading in China, but it has not yet reached its peak. Five million people emigrated from Wuhan before lockdown, potentially representing a source of virus infection. Determining case distribution and its correlation with population emigration from Wuhan in the early stage of the epidemic is of great importance for early warning and for the prevention of future outbreaks.@*METHODS@#The official case report on the COVID-19 epidemic was collected as of January 30, 2020. Time and location information on COVID-19 cases was extracted and analyzed using ArcGIS and WinBUGS software. Data on population migration from Wuhan city and Hubei province were extracted from Baidu Qianxi, and their correlation with the number of cases was analyzed.@*RESULTS@#The COVID-19 confirmed and death cases in Hubei province accounted for 59.91% (5806/9692) and 95.77% (204/213) of the total cases in China, respectively. Hot spot provinces included Sichuan and Yunnan, which are adjacent to Hubei. The time risk of Hubei province on the following day was 1.960 times that on the previous day. The number of cases in some cities was relatively low, but the time risk appeared to be continuously rising. The correlation coefficient between the provincial number of cases and emigration from Wuhan was up to 0.943. The lockdown of 17 cities in Hubei province and the implementation of nationwide control measures efficiently prevented an exponential growth in the number of cases.@*CONCLUSIONS@#The population that emigrated from Wuhan was the main infection source in other cities and provinces. Some cities with a low number of cases showed a rapid increase in case load. Owing to the upcoming Spring Festival return wave, understanding the risk trends in different regions is crucial to ensure preparedness at both the individual and organization levels and to prevent new outbreaks.


Assuntos
Humanos , Betacoronavirus , China , Epidemiologia , Infecções por Coronavirus , Epidemiologia , Emigração e Imigração , Epidemias , Pandemias , Pneumonia Viral , Epidemiologia
20.
Chinese Journal of Nuclear Medicine and Molecular Imaging ; (6): 27-31, 2020.
Artigo em Chinês | WPRIM | ID: wpr-869123

RESUMO

Objective To investigate the value of 18F-fluorodeoxyglucose (FDG) PET/CT imaging and cardiac MRI (CMR) in the diagnosis of radiation-induced heart disease (RIHD) in Beagle models.Methods Twenty-four normal male Beagle dogs (1-year old) were randomly divided into control group and irradiated groups (3-month,6-month and 12-month after radiation).The left anterior myocardium of Beagle dogs in irradiated groups was irradiated locally with a single dose of 20 Gy X-ray.Cardiac 18F-FDG PET/CT imaging and CMR were performed on all dogs,and the mean standardized uptake value (SUVmax) and the area of lesions with increased 18F-FDG uptake were obtained.After imaging examinations were finished,dogs were sacrificed and their hearts were taken out to perform Masson staining and electron microcopy.Oneway analysis of variance was used for data analysis.Results There was basically no uptake in myocardium in control group.The myocardium showed increased uptake of 18F-FDG in the irradiated groups.The SUV of myocardium in 3-month,6-month and 12-month after radiation groups and control group were 5.90± 1.31,4.66±2.21,3.21±0.82 and 1.13±0.21,respectively (F=11.81,P<0.05).The area with increased 18F-FDG uptake in the irradiated groups decreased progressively with the prolongation of irradiation time (F =195.74,P<0.01).The reduction in myocardial perfusion and myocardial fibrosis were observed by CMR early at 6-month after irradiation.Compared with the control group,the 6-month and 12-month after radiation groups had increased end diastolic volume (EDV) and end systolic volume (ESV;F =15.479 and 16.908,both P<0.01),and decreased left ventricular ejection fraction (LVEF;F=63.715,P<0.01).The progressive aggravation of myocardial fibrosis was displayed in irradiated groups by Masson staining.The mitochondria degeneration,swelling and the count reduction in irradiated groups were observed by electron microscopy.Conclusions The increased 18F-FDG uptake in the irradiated myocardium may predict the risk of RIHD.18F-FDG PET/CT imaging can detect RIHD earlier than CMR.

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