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1.
Frontiers of Medicine ; (4): 957-971, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1010803

RESUMO

Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms. Although nearly 50 causative genes have been identified, they only account for approximately 70% of definitive PCD cases. Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants are likely to cause PCD. Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia, and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella. Subsequently, animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD, including chronic respiratory infection, male infertility, and hydrocephalus. To the best of our knowledge, this study is the first to report DNAH10 deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation is causative of PCD.


Assuntos
Humanos , Masculino , Animais , Camundongos , Sêmen/metabolismo , Dineínas/metabolismo , Cílios/metabolismo , Mutação , Transtornos da Motilidade Ciliar/genética
2.
Journal of Central South University(Medical Sciences) ; (12): 767-773, 2021.
Artigo em Chinês | WPRIM | ID: wpr-907708

RESUMO

IgG4-related disease (IgG4-RD) is a recently recognized disorder characterized by elevated serum IgG4 levels and infiltration of IgG4 positive blood cells in the affected organs. However, other conditions like malignancy as well as connective tissue diseases, may show similar findings. A 56-year-old male patient visited Second Xiangya Hospital, Central South University for recurrent fever and chest pain for more than 1 month. Preliminary tests diagnosed as IgG4-related lung disease (IgG4-RLD). However, the improvement of symptoms was absent after the treatment with methylprednisolone. The patient underwent the second biopsy and the result eventually demonstrated lung adenocarcinoma. The role of IgG4 in the pathogenesis or prognosis for lung adenocarcinoma remains unclear. Therefore, a thorough evaluation of symptoms, test of specific serum markers and eventually pathological confirmation are required to avoid misdiagnosis.

3.
Journal of Forensic Medicine ; (6): 210-215, 2020.
Artigo em Inglês | WPRIM | ID: wpr-985107

RESUMO

Objective To develop a convolutional neural network (CNN) that can identify isokinetic knee exercises moment of force-time diagrams under different levels of efforts. Methods The 200 healthy young volunteers performed concentric isokinetic right knee flexion-extension reciprocating exercises with maximal effort as well as half the effort at angular velocities of 30°/s and 60°/s twice, respectively, with an interval of 45 min. The moment of force-time diagrams were collected. The 200 subjects were randomly divided into the training set (140 subjects) and the testing set (60 subjects). The moment of force-time diagrams from subjects in the training set were used to train CNN model, and then the fully trained model was used to predict types of curves from the testing set. Random sampling of subjects along with subsequent development of models were performed 3 times. Results Under the circumstances of isokinetic knee exercises with maximal effort and half the effort, 2 400 moment of force-time diagrams were produced, respectively. Classification accuracy rates of the CNN models after the 3 trainings were 91.11%, 90.49% and 92.08%, respectively, and the average accuracy rate was 91.23%. Conclusion The CNN models developed in this study have a good effect on differentiating isokinetic moment of force-time diagrams of maximal effort exercises from those made with half the effort, which can contribute to identifying levels of efforts exerted by subjects during isokinetic knee exercises.


Assuntos
Humanos , Joelho , Articulação do Joelho , Contração Muscular , Músculo Esquelético , Redes Neurais de Computação
4.
Chinese Medical Journal ; (24): 1942-1950, 2019.
Artigo em Inglês | WPRIM | ID: wpr-774687

RESUMO

BACKGROUND@#Henoch-Schonlein purpura nephritis (HSPN) is a very common secondary kidney disease of childhood. Its pathogenesis and the treatment mechanism of glucocorticoid have not been fully elucidated. The aim of this study was to determine the relationship between p300 and the pathogenesis, glucocorticoid therapy in mice with HSPN, respectively.@*METHODS@#Forty-eight C57BL/6N male mice, weighing 18 to 20 g, were selected (3-4 weeks old, n = 8 per group). The mice in the normal control group (Group I) were given normal solvent and the HSPN model group (Group II) were given sensitizing drugs. The mice in Group III were injected intraperitoneally with dexamethasone after being given sensitizing drugs. Meanwhile, mice in Groups IV, V and VI with conditional knockout of p300 were also given normal solvent, sensitizing drugs and dexamethasone.The levels of serum IgA, creatinine, and circulating immune complex (CIC) concentrations, 24 h urinary protein and urinary erythrocyte in C57 wild mice, and p300 conditional knockout mice in each group were measured. The expression of p300 in renal tissues and the expression of glucocorticoid receptor (GR) α and β, transforming growth factor (TGF)-β1, and activator protein (AP)-1 after dexamethasone treatment were determined by real-time polymerase chain reaction and Western blotting.@*RESULTS@#Compared with the normal solvent control group (Group I), the expression of p300 mRNA in the model group (Group II) was significantly up-regulated. Western blotting further confirmed the result. Urinary erythrocyte count, 24 h urinary protein quantification, serum IgA, CIC, and renal pathologic score in Group V were distinctly decreased compared with non-knockout mice in Group II (9.7 ± 3.8 per high-power field [/HP] vs. 18.7 ± 6.2/HP, t = 1.828, P = 0.043; 0.18 ± 0.06 g/24 h vs. 0.36 ± 0.08 g/24 h, t = 1.837, P = 0.042; 18.78 ± 0.85 mg/mL vs. 38.46 ± 0.46 mg/mL, t = 1.925, P = 0.038; 0.80 ± 0.27 μg/mL vs. 1.64 ± 0.47 μg/mL, t = 1.892, P = 0.041; 7.0 ± 0.5 vs. 18.0 ± 0.5, t = 1.908, P = 0.039). Compared with non-knockout mice (Group III), the level of urinary erythrocyte count and serum IgA in knockout mice (Group VI) increased significantly after treatment with dexamethasone (3.7 ± 0.6/HP vs. 9.2 ± 3.5/HP, t = 2.186, P = 0.024; 12.38 ± 0.26 mg/mL vs. 27.85 ± 0.65 mg/mL, t = 1.852, P = 0.041). The expression level of GRα was considerably increased in the knockout group after dexamethasone treatment compared with non-knockout mice in mRNA and protein level (t = 2.085, P = 0.026; t = 1.928, P = 0.035), but there was no statistically significant difference in the expression level of GRβ between condition knockout and non-knockout mice (t = 0.059, P = 0.087; t = 0.038, P = 1.12). Furthermore, the expression levels of glucocorticoid resistance genes (AP-1 and TGF-β1) were notably increased after p300 knockout compared with non-knockout mice in mRNA and protein level (TGF-β1: t = 1.945, P = 0.034; t = 1.902, P = 0.039; AP-1: t = 1.914, P = 0.038; t = 1.802, P = 0.041).@*CONCLUSIONS@#p300 plays a crucial role in the pathogenesis of HSPN. p300 can down-regulate the expression of resistance genes (AP-1 and TGF-β1) by binding with GRα to prevent further renal injury and glucocorticoid resistance. Therefore, p300 is a promising new target in glucocorticoid therapy in HSPN.

5.
Chinese Medical Journal ; (24): 1942-1950, 2019.
Artigo em Inglês | WPRIM | ID: wpr-802775

RESUMO

Background@#Henoch-Schonlein purpura nephritis (HSPN) is a very common secondary kidney disease of childhood. Its pathogenesis and the treatment mechanism of glucocorticoid have not been fully elucidated. The aim of this study was to determine the relationship between p300 and the pathogenesis, glucocorticoid therapy in mice with HSPN, respectively.@*Methods@#Forty-eight C57BL/6N male mice, weighing 18 to 20 g, were selected (3–4 weeks old, n = 8 per group). The mice in the normal control group (Group I) were given normal solvent and the HSPN model group (Group II) were given sensitizing drugs. The mice in Group III were injected intraperitoneally with dexamethasone after being given sensitizing drugs. Meanwhile, mice in Groups IV, V and VI with conditional knockout of p300 were also given normal solvent, sensitizing drugs and dexamethasone. The levels of serum IgA, creatinine, and circulating immune complex (CIC) concentrations, 24 h urinary protein and urinary erythrocyte in C57 wild mice, and p300 conditional knockout mice in each group were measured. The expression of p300 in renal tissues and the expression of glucocorticoid receptor (GR) α and β, transforming growth factor (TGF)-β1, and activator protein (AP)-1 after dexamethasone treatment were determined by real-time polymerase chain reaction and Western blotting.@*Results@#Compared with the normal solvent control group (Group I), the expression of p300 mRNA in the model group (Group II) was significantly up-regulated. Western blotting further confirmed the result. Urinary erythrocyte count, 24 h urinary protein quantification, serum IgA, CIC, and renal pathologic score in Group V were distinctly decreased compared with non-knockout mice in Group II (9.7 ± 3.8 per high-power field [/HP] vs. 18.7 ± 6.2/HP, t = 1.828, P = 0.043; 0.18 ± 0.06 g/24 h vs. 0.36 ± 0.08 g/24 h, t = 1.837, P = 0.042; 18.78 ± 0.85 mg/mL vs. 38.46 ± 0.46 mg/mL, t = 1.925, P = 0.038; 0.80 ± 0.27 μg/mL vs. 1.64 ± 0.47 μg/mL, t = 1.892, P = 0.041; 7.0 ± 0.5 vs. 18.0 ± 0.5, t = 1.908, P = 0.039). Compared with non-knockout mice (Group III), the level of urinary erythrocyte count and serum IgA in knockout mice (Group VI) increased significantly after treatment with dexamethasone (3.7 ± 0.6/HP vs. 9.2 ± 3.5/HP, t = 2.186, P = 0.024; 12.38 ± 0.26 mg/mL vs. 27.85 ± 0.65 mg/mL, t = 1.852, P = 0.041). The expression level of GRα was considerably increased in the knockout group after dexamethasone treatment compared with non-knockout mice in mRNA and protein level (t = 2.085, P = 0.026; t = 1.928, P = 0.035), but there was no statistically significant difference in the expression level of GRβ between condition knockout and non-knockout mice (t = 0.059, P = 0.087; t = 0.038, P = 1.12). Furthermore, the expression levels of glucocorticoid resistance genes (AP-1 and TGF-β1) were notably increased after p300 knockout compared with non-knockout mice in mRNA and protein level (TGF-β1: t = 1.945, P = 0.034; t = 1.902, P = 0.039; AP-1: t = 1.914, P = 0.038; t = 1.802, P = 0.041).@*Conclusions@#p300 plays a crucial role in the pathogenesis of HSPN. p300 can down-regulate the expression of resistance genes (AP-1 and TGF-β1) by binding with GRα to prevent further renal injury and glucocorticoid resistance. Therefore, p300 is a promising new target in glucocorticoid therapy in HSPN.

6.
National Journal of Andrology ; (12): 420-423, 2019.
Artigo em Chinês | WPRIM | ID: wpr-816819

RESUMO

Objective@#To investigate the necessity of medication for patients with type Ⅲ prostatitis-like symptoms for less than 3 months.@*METHODS@#We enrolled in this study 171 outpatients with type Ⅲ prostatitis-like symptoms for less than 3 months in our hospital from November 2016 to October 2017, and randomly divided them into groups A (n = 57), B (n = 57) and C (n = 57). The patients of group A received tamsulosin, levofloxacin and health education, those of group B tamsulosin and health education, and those of group C health education only. Three months later, we evaluated the therapeutic effects according to the National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI) scores of the patients, 4-point reduction in the total score indicating effectiveness.@*RESULTS@#After 3 months of treatment, the total NIH-CPSI scores of the patients in groups A, B and C were decreased by (9.0 ± 2.9), (8.2 ± 3.4) and (8.6 ± 3.2) points respectively, all indicating effectiveness, the pain scores (4.2 ± 1.8), (4.0 ± 1.9) and (4.2 ± 1.6) points, the urinary symptom scores decreased by decreased by (2.4 ± 1.2), (2.4 ± 1.4) and (2.2 ± 1.2) points, and quality of life scores decreased by (2.4 ± 1.4), (1.9 ± 1.4) and (2.2 ± 1.3) points, none with statistically significant difference among the three groups (P > 0.05).@*CONCLUSIONS@#Health education is proved to have a therapeutic effect on type Ⅲ prostatitis-like symptoms similar to that of alpha receptor blockers.

7.
Protein & Cell ; (12): 178-195, 2019.
Artigo em Inglês | WPRIM | ID: wpr-757982

RESUMO

Hepatitis C virus (HCV) is a leading cause of liver disease worldwide. Although several HCV protease/polymerase inhibitors were recently approved by U.S. FDA, the combination of antivirals targeting multiple processes of HCV lifecycle would optimize anti-HCV therapy and against potential drug-resistance. Viral entry is an essential target step for antiviral development, but FDA-approved HCV entry inhibitor remains exclusive. Here we identify serotonin 2A receptor (5-HTR) is a HCV entry factor amendable to therapeutic intervention by a chemical biology strategy. The silencing of 5-HTR and clinically available 5-HTR antagonist suppress cell culture-derived HCV (HCVcc) in different liver cells and primary human hepatocytes at late endocytosis process. The mechanism is related to regulate the correct plasma membrane localization of claudin 1 (CLDN1). Moreover, phenoxybenzamine (PBZ), an FDA-approved 5-HTR antagonist, inhibits all major HCV genotypes in vitro and displays synergy in combination with clinical used anti-HCV drugs. The impact of PBZ on HCV genotype 2a is documented in immune-competent humanized transgenic mice. Our results not only expand the understanding of HCV entry, but also present a promising target for the invention of HCV entry inhibitor.

8.
Journal of Medical Postgraduates ; (12): 926-930, 2019.
Artigo em Chinês | WPRIM | ID: wpr-818349

RESUMO

Objective research the effects of metformin on proliferation and apoptosis in nasopharyngeal carcinoma cell CNE-1 and investigate the role of miR-let-7a、IGF-1R in it. Methods The nasopharyngeal carcinoma cell CNE-1 was treated with different concentrations of metformin for 24h, then the proliferation activity of cell was detected by CCK8 method; the apoptosis rate of cell was measured by flow cytometry; the expression levels of bcl-2、bax and IGF-1R mRNA and miR-let-7a were detected by real-time quantitative PCR; the expression level of IGF-1R protein was detected by Western blot. Results Compared with the control group, the cell proliferation activity of metformin group decreased(P<0.05), and it gradually decreased along with the increase of metformin concentration. The cell apoptosis rate of metformin group increased(P<0.05 except for the 5 mmol/L group), and it gradually increased along with the increase of metformin concentration. The expression levels of bax mRNA and miR-let-7a were up-regulated in the metformin group(P<0.05), while the expression levels of bcl-2 mRNA,IGF-1R mRNA and IGF-1R protein were decreased(P<0.05). Conclusion Metformin could inhibit the proliferation and induce apoptosis of CNE-1. The mechanism maybe related to the up-regulation of miR-let-7a and down-regulation of IGF-1R.

9.
China Journal of Chinese Materia Medica ; (24): 3171-3175, 2018.
Artigo em Chinês | WPRIM | ID: wpr-690400

RESUMO

The aim of this paper is to investigate the effect of patchouli alcohol in enhancing Helicobater pylori's action in eradicating macrophages and its mechanism. H. pylori was co-cultured with macrophages at a ratio of MOI=100 in different concentrations of patchouli alcohol. The effect of patchouli alcohol in eradicating macrophages was detected by agar dilution method. The effect of patchouli alcohol on NO and myeloperoxidase (MPO) levels in macrophages were measured by H. pylori by biochemical methods. Patchouli alcohol effect on H. pylori-induced pro-inflammatory gene expression and protein secretion in macrophages were detected by RT-qPCR and ELISA method. The eradication of H. pylori has significantly enhanced, and the destabilization of lysosomes has been reversed. Meanwhile, patchouli alcohol has an effect in inhibiting pro-inflammation and oxidation. The mechanism of patchouli alcohol in eradicating H. pylori and resisting oxidative stress may be associated to the blocking of bacteria escape lysosome combination procedures.

10.
Chinese Journal of Information on Traditional Chinese Medicine ; (12): 38-41, 2017.
Artigo em Chinês | WPRIM | ID: wpr-667321

RESUMO

Objective To observe the lung injury of rats caused by PM2.5 and the intervention effect of Platycodonis Radix total saponins (PGS); To discuss the repair mechanism of PGS for lung injury caused by PM2.5. Methods The model of lung injury caused by PM2.5 was induced by tracheal instillation. The rats were randomly divided into blank group, model group and PGS high-, medium- and low-dose groups, with 10 rats in each group. After medication for 14 d, BALF and left lung and right lung tissue of rats were collected. HE staining was used to observe the pathological changes of lung tissue. The contents of TNF-α, IL-6, IL-10 and IL-13 in BALF were detected by ELISA. RT-PCR was used to detect the expression of TGF-β mRNA in lung tissues. The expression of TGF-β protein in lung tissue was detected by Western blot. Results Compared with model group, TNF-α and IL-6 decreased significantly while IL-10 and IL-13 increased significantly in BALF in high- and medium-dose group of PGS. Degree of pulmonary interstitial edema and fibroplasia alleviated in PGS groups. Expressions of TGF-βmRNA and protein in lung tissue was reduced in PGS groups. Conclusion PGS can alleviate inflammatory injury caused by PM2.5 via regulating the balance of cytokine and down-regulating the expression of TGF-β and inhibiting the development of fibrosis, which results in the protection and repair on the lung injury of rats caused by PM2.5.

11.
Modern Clinical Nursing ; (6): 10-13, 2017.
Artigo em Chinês | WPRIM | ID: wpr-606925

RESUMO

Objective To explore the status of early postoperative social relationship quality and hope level in patients with breast cancer and analyze the correlation between them. Method A questionnaire survey was conducted among 100 patients with breast cancer using the social relationship quality scale and Herth hope scale. Results The total score and expected total score of early postoperative social relationship were (47.86±6.10)and (30.81±1.86), respectively. There was a positive correlation between the two groups (r=0.324,P<0.05). Conclusions The quality of social relations in the postoperative patients with breast cancer is positively correlated with the level of hope. Nursing staff should give breast cancer patients hope and strength at the same time, helping them understand and use social relations to improve the quality of life.

12.
China Occupational Medicine ; (6): 429-432, 2016.
Artigo em Chinês | WPRIM | ID: wpr-876968

RESUMO

OBJECTIVE: To analyze the relationship of the intima-media thickness( IMT) of carotid artery and accumulated radiation dose in intervention workers,and to evaluate the threshold dose leading to the abnormal IMT. METHODS: By cluster random sampling,155 intervention workers were selected as intervention group and 620 workers from the radiology departments were selected as control group. All workers came from 27 hospitals in Shandong Province. The workers in these two groups were given radiological occupational health check-up. Their accumulated dose of radiation was collected and IMT was measured by ultrasound. Multiple linear regression analysis was used to analyze the dose-effect between the IMT and the accumulated dose. RESULTS: In the intervention group,IMT was( 0. 70 ± 0. 11) mm,the abnormal rate of IMT was 4. 5%( 7 /155). The IMT in the control group was( 0. 68 ± 0. 09) mm,and the abnormal rate of IMT was 3. 9%( 24 /620). The abnormal rate of IMT between the two groups had no statistical significance( P > 0. 05). The multiple linear regression equation was y = 0. 007 x_1+ 0. 001 x_2- 0. 098 x3+ 0. 223( y means IMT,mm; x_1 means age,x_2 means accumulated radiation dose,mSv; x3 means gender),and the threshold doses deduced in all ages corresponding to 1 mm of IMT showed that the threshold dose was higher with younger age,and the larger accumulated radiation dose was needed to cause the IMT abnormity in the female than in the male workers. CONCLUSION: The IMT is positively correlated with the accumulated radiation dose in radiation workers,and the threshold dose of abnormal IMT could be estimated by the linear regression equation.

13.
China Journal of Orthopaedics and Traumatology ; (12): 749-753, 2015.
Artigo em Chinês | WPRIM | ID: wpr-240948

RESUMO

<p><b>OBJECTIVE</b>To evaluate the clinical effects of posterior spinal transpedicular wedge osteotomy for kyphosis due to delayed osteoporotic vertebral fracture in elderly.</p><p><b>METHODS</b>From July 2009 to February 2014,26 patients with kyphosis caused by delayed osteoporotic vertebral fracture were treated with transpedicular wedge osteotomy. There were 10 males and 16 females,aged from 55 to 75 years old with an average of 67 years. There were 1 osteotomy in thoracic vertebra,21 osteotomies in thoracolumbar vertebrae and 4 in lumbar vertebrae. Total 29 vertebrae were involved, 23 cases with single vertebral fracture and 3 cases with double vertebral fractures. Preoperative Cobb angles were 32°~51° with the mean of (42.00 ± 4.75) ° and VAS scores were 6 to 9 points with an average of (8.40 ± 0.75) points. According to the Frankel grade of spinal cord function, 4 cases were grade D and 22 cases were grade E. Intraoperative bleeding, operation time and perioperative complications were recorded, and improvements of Cobb angle were evaluated by X-rays. VAS score and Frankel grade were respectively used to evaluate the pain and nerve function.</p><p><b>RESULTS</b>The average operation time were 155 min (ranged, 120 to 175) and the mean intraoperative bleeding were 1 100 ml (ranged,800 to 1 500). Postoperative at 2 days, Cobb angle and VAS score were (9.60 ± 2.50) ° and (4.00 ± 1.00) points, respectively, ranged from 5° to 15° and 1 to 5 points. VAS score and Cobb angle improved obviously compared with preoperative (P < 0.05), and the improvement rate of Cobb angle was 76%. Frankel grade of 1 case changed from grade E to C, and the others did not become worse. The follow-up period ranged from 3 to 24 months with an average of 16.4 months. At the final follow-up, Cobb angles and VAS score were (11.00 ± 3.50)° and (4.40 ± 1.25) points, respectively, ranged from 5° to 19° and 1 to 6 points. The patient whose Frankel grade E changed to C at 2 days after surgery and changed to grade D at the latest follow-up. Vertebral body fracture below the fusion level happened in 1 case at 3 months after surgery, vertebral body fracture above the fusion level happened in 1 case at 5 months after surgery, and their chest pain symptoms were relieved after symptomatic treatment and anti osteoporosis treatment. All osteotomy levels obtained fusion which confirmed by X-ray and no internal fixation loosening and breakage were found.</p><p><b>CONCLUSION</b>The clinical effect of posterior transpedicular wedge osteotomy for kyphosis due to delayed osteoporotic vertebral fracture was satisfactory, but manipulation during the operation should be cautious and prevent adjacent vertebral body fracture should be pay attention to prevent.</p>


Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cifose , Cirurgia Geral , Fraturas por Osteoporose , Cirurgia Geral , Osteotomia , Métodos , Fraturas da Coluna Vertebral , Cirurgia Geral , Escala Visual Analógica
14.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 672-675, 2014.
Artigo em Chinês | WPRIM | ID: wpr-749313

RESUMO

OBJECTIVE@#To screen and identify the frequency and characteristic of mutation in stereocilium-related gene Taperin of Chinese prelingual nonsyndromic hearing impairment with DNA microarray combined with PCR.@*METHOD@#One hundred and thirty-four patients of prelingual nonsyndromic deafness and one hundred health individuals in China were investigated in this study. Genomic DNA was extracted from the patients and was subjected to DNA microarray to screen mutations in 4 most common genes. The samples that carried none of the common mutant alleles were subjected to PCR and sequenced to detect mutations in Taperin gene.@*RESULT@#Ninteen out of one hundred and thirty-four patients of prelingual nonsyndromic deafness were detected carring common deafness gene with DNA microarray. Taperin gene were detected in one hundred and fifteen patients with PCR. A187S was detected in Taperin as hetrozygous state in 2 patients and their unaffected members of their family. It occurred at the evolutionary conservation of the amino acids of taperin according to alignment analysis. Two polymorphism, 157C>T and 318C>T, were found in the patients and the control group.@*CONCLUSION@#A novel Taperin mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss, which may be relevant to hearing loss. Two polymorphism, 157C>T and 318C>T, were found in Chinese in our research. The carrier frequency for Taperin mutation is about 1.74% of prelingual nonsyndromic deafness in Chinese patients.


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Povo Asiático , Genética , China , Surdez , Genética , Mutação , Proteínas , Genética
15.
Journal of Forensic Medicine ; (6): 7-12, 2014.
Artigo em Chinês | WPRIM | ID: wpr-983871

RESUMO

OBJECTIVE@#To observe the changes of relative expression of myocardial various RNAs in rats died of different causes and their relationship with PMI.@*METHODS@#The rat models were established in which the rats were sacrificed by broken neck, asphyxia, and hemorrhagic shock. Total RNAs were extracted from myocardium. The quantitative real time PCR was used to calculate threshold cycle values of RNAs including glyceraldehyde-3-phosphate dehydrogenase (GAPDH), beta-actin, inducible nitric oxide synthase (iNOS), hypoxia-inducible factor-1 (HIF-1), tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), and U6 small nuclear RNA (U6 snRNA) and to study the changes of the relative expressions of various indexes with PMI.@*RESULTS@#U6 snRNA with stable expression level could be used as appropriate internal control. In the early PMI, the relative expression of GAPDH, HIF-1, iNOS, TNF-alpha, and IL-6 more characteristically increased in groups of asphyxia and hemorrhagic shock than in group of broken neck, but the quantity of beta-actin decreased in all groups. In the late PMI, all the relative expressions significantly declined in correlation with the degradation of RNA.@*CONCLUSION@#The characteristic changes of each RNA expression can be used as references to estimate PMI in deaths by different causes.


Assuntos
Animais , Ratos , Actinas , Causas de Morte , Citocinas/metabolismo , Modelos Animais de Doenças , Enzimas/metabolismo , Gliceraldeído-3-Fosfato Desidrogenases , Miocárdio/metabolismo , Óxido Nítrico Sintase Tipo II , RNA/metabolismo , RNA Nuclear Pequeno , Choque Hemorrágico , Fator de Necrose Tumoral alfa
16.
Chinese Journal of Surgery ; (12): 396-399, 2013.
Artigo em Chinês | WPRIM | ID: wpr-301273

RESUMO

<p><b>OBJECTIVE</b>To evaluate the safety, feasibility and the long-term outcomes of laparoscopy-assisted gastrectomy (LAG) for advanced gastric cancer (AGC).</p><p><b>METHODS</b>The clinical and follow-up data of 46 cases after LAG from June 2008 to December 2009 were analyzed, and compared with 85 cases after conventional open gastrectomy (OG) for advanced gastric cancer at the same period at our hospital. The surgical safety, postoperative recovery, complications, radical degree, survival rate were compared.</p><p><b>RESULT</b>As compared with OG group, operation time was longer in LATG group ((274 ± 78) min vs. ( 217 ± 41) min, t = 4.635, P = 0.000). Estimated blood loss in the LAG group ((254 ± 112) ml) was significantly less than in the OG group (t = 3.942, P = 0.000). Time to ambulation ((63 ± 16) hours), first flatus ((77 ± 20) hours), resumed liquid diet ((88 ± 15) hours), duration of analgesic medication ((53 ± 20) hours) and postoperative hospital stay ((11.1 ± 4.6) days) were significantly shorter in the LAG group (t = 5.549, 6.508, 9.436, 9.464 and 2.980 respectively, all P < 0.01). The distance of the proximal and distal resection margin were (5.7 ± 1.4) cm and (3.9 ± 1.5) cm in LAG group, (5.8 ± 1.1) cm and (4.7 ± 1.5) cm in OG group respectively, but the difference was not significant. The number of lymph node dissections was also similar, (30.5 ± 10.4) in LAG group and (32.6 ± 12.3) in OG group (t = 0.960, P = 0.339). The incidence of postoperative complications and mortality rate in LAG group (8.7% and 0 respectively) were also lower than in the OG group, with no statistically significant difference (P > 0.05). The mean follow-up was 31.0 months (range 6-48 months), and the cumulative survival of the 2 groups was similar (χ(2) = 1.594, P = 0.207).</p><p><b>CONCLUSIONS</b>Laparoscopy-assisted gastrectomy for advanced gastric cancer is not significantly different with open surgery in surgical safety, radical degree, and survival rate. It is less traumatic and of fewer complications.</p>


Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gastrectomia , Métodos , Laparoscopia , Laparotomia , Excisão de Linfonodo , Complicações Pós-Operatórias , Epidemiologia , Neoplasias Gástricas , Cirurgia Geral , Taxa de Sobrevida , Resultado do Tratamento
17.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 749-752, 2013.
Artigo em Chinês | WPRIM | ID: wpr-275821

RESUMO

<p><b>OBJECTIVE</b>To investigate the effect of 0.1 Gy X-ray irradiation on the gene expression profiles in normal human lymphoblastoid cells using gene microarray and to explore the possible mechanism of the biological effect of low-dose irradiation.</p><p><b>METHODS</b>The NimbleGen 12×135 K microarray corresponding to 45033 genes was used to analyze the gene expression profiles in AHH-1 cells cultured for 6 h and 20 h after 0.1 Gy X-ray irradiation. A gene was identified as the differentially expressed gene if the ratio between its expression levels in irradiation group and control group was higher than 2 or lower than 0.5. RT-PCR and real-time PCR were used to confirm some differentially expressed genes.</p><p><b>RESULTS</b>There were 760 up-regulated genes and 1222 down-regulated genes in the cells at 6 h after 0.1 Gy X-ray irradiation, while there were 463 up-regulated genes and 753 down-regulated genes at 20 h after 0.1 Gy X-ray irradiation; there were 92 differentially expressed genes in common. The expression of GADD45A, CDKN2A, and Cx43 measured using gene microarray was confirmed by RT-PCR and real-time PCR.</p><p><b>CONCLUSION</b>Low-dose irradiation can affect the expression of many functional genes, which provides a basis for the research on the mechanism of radiation damage.</p>


Assuntos
Humanos , Linhagem Celular , Linfócitos , Efeitos da Radiação , Análise de Sequência com Séries de Oligonucleotídeos , Doses de Radiação , Radiação Ionizante , Transcriptoma , Raios X
18.
China Journal of Chinese Materia Medica ; (24): 753-756, 2013.
Artigo em Chinês | WPRIM | ID: wpr-350692

RESUMO

<p><b>OBJECTIVE</b>To establish a method for the determination of theacrine in rat plasma after ig. administration of theacrine.</p><p><b>METHOD</b>Blood sample was taken timely from the eyes canthus of rats. Plasma was isolated and the protein was precipitated by ethyl acetate. Then the plasma concentration of theacrine was determined with RP-HPLC. Caffeine was used as the internal standard. The chromatographic conditions were as follows: Phenomenex Luna C18 (4.6 mm x 250 mm, 5 microm) at 25 degrees C, a mixture of methanol-water (25: 75) as the mobile phase, at the flow rate of 1.0 mL x min(-1) and the detection wavelength of 290 nm.</p><p><b>RESULT</b>The linear range of theacrine was 0.5-100 mg x L(-1) (R2 = 0.998 9). The lower limit of quantification was 0.5 mg x L(-1). The intra-day RSD was 1.49% 4.40% and inter-day RSD was 0.80% -10.27%. The average extraction recoveries of theacrine were 90.3% -95.8% at concentrations of 0.5, 5.0, 50 mg x L(-1). The main pharmacokinetic parameters after ig. administration of theacrine at concentration of 30 mg x kg(-1) were as follow: C(max) (35.45 +/- 30 2.68) mg x L(-1), t(max) (0.51 +/- 0.13) h, t1/2 (3.13 +/- 1.37) h, AUC(0-infinity) (2.65.39 +/- 94.71) mg x L(-1) x h.</p><p><b>CONCLUSION</b>The method has been confirmed to be simple, stable, reproducible and with high specificity, and can be used for the pharmacokinetic study of theacrine in rats.</p>


Assuntos
Animais , Ratos , Análise Química do Sangue , Métodos , Calibragem , Cromatografia Líquida de Alta Pressão , Métodos , Cromatografia de Fase Reversa , Métodos , Ratos Sprague-Dawley , Reprodutibilidade dos Testes , Ácido Úrico , Sangue , Farmacocinética
19.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 662-667, 2012.
Artigo em Chinês | WPRIM | ID: wpr-262514

RESUMO

<p><b>OBJECTIVE</b>To study the pattern of lymph node spread in papillary thyroid carcinoma (PTC) with clinically negative node (cN0).</p><p><b>METHODS</b>A total of 106 patients with cN0 PTC who underwent total or subtotal thyroidectomy plus unilateral or bilateral lateral neck dissection (LND, level II-V or level I-V) at West China Hospital of Sichuan University between April 2004 and August 2010 were analyzed retrospectively.</p><p><b>RESULTS</b>The lateral neck lymph node metastasis in cN0 PTC was significantly associated with sex (male, P = 0.007), tumor stage (T3/T4, P = 0.006), tumor size (> 1 cm, P = 0.014) and the number of positive central lymph nodes (≥ 2, P < 0.001), but not with age and multifocal tumor. Level III (47/116, 40.5%) was the most prevalent metastatic site, followed by level IV (41/116, 35.3%), level II (18/116, 15.5%) and level V (2/29, 6.9%). Of the cases with lymph node metastases in level III and IV, 89.8% (79/88) of primary thyroid tumors existed in the lower and middle sites of the thyroid lobes, while in the cases with lymph node metastases in level II, 77.8% (14/18) of primary thyroid tumors in the upper sites of the thyroid lobes, and 83.3% of cases with level II metastases were accompanied with level III metastases. Two cases with level V metastases were accompanied with metastases in levels II, III and IV.</p><p><b>CONCLUSIONS</b>LND should be considered for cN0 PTC in male, with T3/T4 lesions and positive central lymph nodes ≥ 2, and the range of dissection should include level III and IV. Dissection of level II should be considered in cN0 PTC with primary tumor localized in the upper site of the thyroid lobe or with level III metastasis. Dissection of level V should be considered at present of metastases in level II, III, and IV. For cN0 PTC with tumor size < 1 cm, confined to the thyroid and without lymph node metastasis in the central compartment, LND is not recommended.</p>


Assuntos
Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Carcinoma , Patologia , Carcinoma Papilar , Linfonodos , Patologia , Metástase Linfática , Patologia , Esvaziamento Cervical , Estadiamento de Neoplasias , Estudos Retrospectivos , Neoplasias da Glândula Tireoide , Patologia
20.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 565-570, 2012.
Artigo em Chinês | WPRIM | ID: wpr-316608

RESUMO

<p><b>OBJECTIVE</b>To study the related factors of central lymph node (CLN) metastasis in papillary thyroid carcinoma (PTC),the indications and the extent of central neck dissection (CND).</p><p><b>METHODS</b>A total of 153 cases treated between Jan. 2009 and Dec. 2010 was analysed retrospectively. Of the cases 28 males and 125 cases females, with a mean age of (44 ± 14) years. T1, T2, and T3 diseases accounted for 51, 10 and 81 cases, respectively; I, II, III and IV diseases for 88, 3, 26 and 36 cases, respectively. Multifocal tumors were found in 63 cases. The related clinicopathologic factors were analyzed, including sex, age, tumor size, extrathyroidal extension, and multifocal tumor.</p><p><b>RESULTS</b>All the cases had total/near total thyroidectomy and CND, of them 64 cases had unilateral neck dissection and 18 cases had bilateral neck dissection. CLN metastases existed in 68.6% (105/153) cases, 37.2% (57/153) for unilateral and 31.4% (48/153) for bilateral respectively. The rates of CLN metastasis were 86.6% (71/82) in cN1 cases and 47.9% (34/71) cN0 cases, respectively,and the rates of bilateral CLN metastases were 45.1% (37/82) in cN1 cases and 15.5% (11/71) in cN0 cases. Multivariate analysis showed that extrathyroidal extension (P = 0.002, OR = 3.502) was an independent risk factor for CLN metastasis and that lateral neck lymph node metastasis (P = 0.028, OR = 3.080), surrounding tissue invasion (P = 0.014, OR = 3.113), and maximum tumor diameter greater than 1 cm (P = 0.012, OR = 3.732) were independent risk factors for bilateral CLN metastases.</p><p><b>CONCLUSIONS</b>It is indicated that ipsilateral CND should be obligatory for PTC. Intraoperative frozen section examination should be routine. Bilateral CND should be conducted when ipsilateral CLN metastases accompanied by one of following issues such as more invasive tumor (surrounding tissue invasion, T3 or T4 disease), maximum tumor diameter greater than 1 cm, and lateral neck lymph node metastasis.</p>


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Carcinoma , Patologia , Carcinoma Papilar , Metástase Linfática , Esvaziamento Cervical , Estudos Retrospectivos , Neoplasias da Glândula Tireoide , Patologia
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