Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 20
Filter
1.
Article in Chinese | WPRIM | ID: wpr-1025062

ABSTRACT

Irritable bowel syndrome(IBS)is one of the most common functional gastrointestinal disorders,of which diarrhea-predominant IBS(IBS-D)accounts for the largest proportion.The pathogenesis of IBS-D is complicated and diverse,and there is currently a lack of clinically effective drugs.The establishment of animal models is an essential tool for further studies of the disease mechanisms,evaluation of clinical efficacy,and drug development,and the preparation and evaluation standards of models are important factors affecting the quality of the research.Based on the currently accepted pathogenesis of IBS-D and the previous modeling experience of our research group,this review systematically summarizes the evaluation method used in animal models of IBS-D in terms of diarrhea observation,visceral sensitivity tests,and intestinal motility tests,to provide a reference for future studies.

2.
Arch. endocrinol. metab. (Online) ; 67(6): e000659, Mar.-Apr. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1447269

ABSTRACT

SUMMARY A 71-year-old woman with recurrent papillary thyroid carcinoma (PTC) was referred to our hospital. A computed tomography scan revealed extensive recurrence in the neck, invading sternocleidomastoid muscle, internal jugular vein, sternal end of the clavicle, strap muscle and skin; and lateral compartment and subclavian lymph nodes were also involved. Multiple pulmonary micrometastases also noticed. The tumor was considered unresectable; however, the patient was unwilling to accept highly invasive surgery. Therefore, we initiated neoadjuvant therapy with anlotinib, 12mg p.o. daily with a 2-week on/1-week off regimen. The tumor shrunk to resectable state after 4 cycles of treatment, and after 3 weeks of withdrawal, successful surgical resection without gross tumor residual was performed. Pathology confirmed as classic PTC harboring coexistent TERT promoter and BRAFV600E mutations by NGS. After anlotinib therapy, apoptosis induction was observed, and proliferation increased, which was due to three weeks of anlotinib withdraw. Structual recurrence was recorded at 6 months after operation due to no further treatment was taken. Our finding suggests that anlotinib could represent as a good treatment option for patients with locally advanced (with or without distant metastasis) PTC; Anlotinib treatment resulted in sufficient reduction of the tumor mass to enable total thyroidectomy and radioactive iodine treatment, providing long-term control of the disease.

3.
Article in Chinese | WPRIM | ID: wpr-879196

ABSTRACT

Chinese patent medicine prescriptions containing Jujubea Fructus in 2015 edition of Chinese Pharmacopoeia and the Composition Principles of Chinese Patent Drug were collected, and the characteristics of Chinese patent medicine containing Jujubea Fructus were analyzed by using data mining technology. Statistical software Excel 2019, Clementine 12.0 and SPSS 21.0 were used to conduct statistical analysis of conforming Chinese patent medicine prescriptions by means of frequency statistics, association rule analysis and cluster analysis. Finally, a total of 185 Chinese patent medicine prescriptions containing Jujubea Fructus were included in this study, involving 402 Chinese medicines and 28 kinds of high frequency Chinese medicines, with Jujubea Fructus, Poria, Zingiberis Rhizoma Recens, Glycyrrhizae Radix et Rhizoma, and Codonopsis Radix as the top five. The deficiency-nourishing drugs were in the most common efficacy classification, mainly sweet, bitter and pungent, with most medicine properties of warm and gentle, main meridians of spleen lung and stomach, dosage forms of pills, granules and tablets, and main indications of splenic diseases. Fifteen drug combinations were obtained in association rule analysis. Eleven drug combinations were obtained by association rule analysis of Chinese patent medicine containing Jujubea Fructus in the treatment of splenic diseases, and the drugs were divided into two categories by cluster analysis. According to the above analysis, it is found that the Chinese patent medicine prescriptions containing Jujubea Fructus are mainly composed of deficiency-nourishing drugs, mostly compatible with drugs of sweet, bitter and pungent flavors, warm and gentle properties, and spleen, lung, and stomach meridians in the treatment of splenic diseases, with Sijunzi Decoction as the main drug. This study provides guidance for modern clinical application and development of Jujubea Fructus.


Subject(s)
China , Data Mining , Drugs, Chinese Herbal , Medicine, Chinese Traditional , Nonprescription Drugs
4.
Article in Chinese | WPRIM | ID: wpr-801867

ABSTRACT

Objective:To study the protective effect of Fuzheng Quxie prescription on liver injury by influencing the expressions of tumor necrosis factor (TNF)-α, apoptosis factor (Fas), apoptosis factor ligand (FasL), and macrophages (CD68) in the liver tissues of concanavalin A(ConA) model mice. Method:The sixty mice were randomly divided into normal group, model group,bicyclol group (62.5 mg·kg-1), and low, medium and high-dose Fuzheng Quxie prescription groups(50.3,67.0,83.8 g·kg-1). The normal group and the model group were given the equal volume of pure water for 7 d. They were fasted for 12 hours before the last administration. At 2nd hour after the last administration, phosphate buffer(PBS) was injected into the caudal vein of the normal group, and ConA (20 mg·kg-1) was injected into the caudal vein of the other groups for modeling. The animals were put to death six hours later after the injection, and the expressions of TNF-α, Fas, FasL and CD68 in liver tissues were observed by immunohistochemistry. Result:Compared with normal group, the expressions of TNF-α, Fas, FasL and CD68 in the liver tissues of the model group were significantly increased(Pα, FasL and CD68 in liver tissues of the bicyclol group were significantly decreased compared with the model group(Pα, FasL and CD68 in liver tissues were significantly decreased in medium and high-dose Fuzheng Quxie prescription groups (PPConclusion:Fuzheng Quxie prescription can effectively reduce the apoptosis of liver cells in ConA model mice by inhibiting Kupffer cells and Fas/FasL system activation.

5.
Article in Chinese | WPRIM | ID: wpr-801994

ABSTRACT

Objective: To investigate the effect of dodder total flavone on polycystic ovary syndrome (PCOS) rat models induced by letrozole. Method: Except the blank group, the other rats were given letrozole 1 mg·kg-1 for 21 consecutive days to replicate PCOS animal model. On the 16th day of the modeling, the estrous cycle was detected by vaginal smear, and rat with persistent keratinization of vaginal epithelial cells were selected as the PCOS model rat. The model rats were randomly divided into model group, Dacin-35 group, and high, middle, low-dose dodder total flavonoids groups. The corresponding drugs were given for 21 consecutive days. At the end of the administration, materials were collected to calculate ovary index, and enzyme-linked immunosorbent assay(ELISA) was used to measure estrogen (E2), testosterone (T), gonadotropin-releasing hormone (GnRH), follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels of serum. The right ovary of rats was stained with haematoxylin-eosin (HE), and the pathological changes were observed by optical microscope. Androgen receptor(AR) expressions in hypothalamus, pituitary and ovary were detected by mmunohistochemistry. Result: Compared with the blank group, serum T, GnRH and LH levels, ovarian index and LH/FSH ratio were significantly increased, while FSH and E2 levels were significantly decreased (PPP2, T, GnRH and LH levels, ovarian index and LH/FSH ratio were significantly decreased in high, middle and low-dose dodder total flavonoids groups (P2 level was significantly increased (PP2 level in PCOS model rats was obviously increased in low-dose dodder total flavonoids group (PPConclusion: Dodder total flavonoids may play a protective role in PCOS model rats by regulating the secretion of estrogen and androgen and affecting the hypothalamic-pituitary-ovary axis pathway.

6.
Article in Chinese | WPRIM | ID: wpr-798503

ABSTRACT

Objective:To determine whether glutathione dehydrogenase (GLDH), purine nucleotide phosphorylase (PNP), α-glutathione-S-transferase (α-GST), and arginase 1 (Arg1) can be used as the early biomarkers of drug-induced liver injury by comparing the changes of traditional biomarkers alanine aminotransferase (ALT), aspartate aminotransferase (AST) and alkaline phosphatase (ALP), total bilirubin (TBIL) and potential biomarkers GLDH, PNP, α-GST and Arg1 in acetaminophen (APAP)-induced liver injury model rats. Method:The 48 rats were randomly divided into two groups:blank group and model group. 24 rats in each group, half male and half female. The model group received 1 250 mg·kg-1 APAP solution by intragastric administration to establish the drug-induced liver injury. 6 rats (half male and half female) were randomly selected from each group at 3, 6,12 and 24 h after APAP was given to the model group, to detect the levels of ALT, AST, ALP, TBIL, GLDH, PNP, α-GST, Arg1 in serum and levels of GLDH, PNP, α-GST, Arg1 in liver tissue homogenate at each time point Histopathological changes of liver tissues were observed by hematoxylin-eosin (HE) staining. Result:As compared with the blank group, the levels of ALT, AST, ALP, TBIL, GLDH, PNP, α-GST and Arg1 in serum and liver homogenates were significantly increased in model group(PPα-GST and Arg1 levels in serum and liver tissues of rats in the model group were increased earlier and more significantly than ALT and AST levels. Conclusion:GLDH, PNP, α-GST and Arg1 can be used as biomarkers for early detection of drug-induced liver injury.

7.
Article in Chinese | WPRIM | ID: wpr-798504

ABSTRACT

Objective:To replicate the animal model of liver injury in rats by using carbon tetrachloride (CCl4), investigate the dynamic changes of early biomarkers of liver injury, namely glutamate dehydrogenase (GLDH), purine nucleotide phosphorylase(PNP), α-dynamic changes of glutathione-S-transferase (α-GST) and arginase 1(Arg1), and provide experimental evidence for early detection of acute liver injury. Method:Forty-eight Wistar rats were randomly divided into a blank group and a model group. The model group was intraperitoneally injected with 10 mL·kg-1 10% CCl4 olive oil solution, fasting but except water. Animals were sacrificed at 3, 6, 12, and 24 h. The serum liver function alanine aminotransferase(ALT), aspartate aminotransferase (AST), bilirubin (TBIL), alkaline phosphatase (ALP) levels, α-GST, Arg1, GLDH, PNP levels, and liver homogenate superoxide dismutase (SOD), glutathione (GSH), malondialdehyde (MDA) levels were then detected. Result:As compared with blank group, the levels of ALT, AST, TBIL, α-GST, Arg1, GLDH, PNP and MDA were increased significantly 3 h after administration, and SOD was decreased significantly(Pα-GST, ARG-, GLDH, TBIL, ALP and MDA were increased significantly, while GSH and SOD were decreased significantly (PPα-GST, Arg1, TBIL, ALP and MDA were significantly increased, while GSH and SOD were significantly decreased (PConclusion:α-GST, Arg1, GLDH and PNP have better sensitivity than traditional liver function test indicators, and can be used for early detection of liver injury induced by CCl4 in rats.

8.
Article in Chinese | WPRIM | ID: wpr-798505

ABSTRACT

Objective:To investigate the dynamic changes of the biomarkers of alcoholic liver injury, including glutamate dehydrogenase(GLDH), α-glutathione-S-transferase(α-GST), purine nucleotide phosphorylase(PNP), and arginine enzyme 1(Arg1), and clarify whether these indexes can be used as early diagnostic biomarkers for alcoholic liver injury. Method:48 Wistar rats were randomly divided into a blank group and a model group, 24 rats in each group, half male and half female. After fasting but except water for 7 h, 50% ethanol/10 mL·kg-1 was given to the model group by intragastric administration and the same volume of normal saline was administered to the blank group. After 1 h, 50% ethanol was again given for once by intragastric administration according to the previous dosage. In the blank group, the same volume of normal saline was administered. After modeling and administration for 6 d, acute alcoholic liver injury model was established. 3 h after the last intragastric administration of alcohol at day 2, 3, 4, 6, six rats (half male and half female) in each group were randomly selected. All the animals were sacrificed to determine the aspartate aminotransferase(AST), alanine aminotransferase(ALT), alkaline phosphatase(ALP), bilirubin(TBIL), GLDH, α-GST, PNP, and Arg1 levels. Result:As compared with the blank group, the levels of ALT, AST, ALP, TBIL, GLDH, PNP, α-GST and Arg1 in the model group were significantly different (Pα-GST and Arg1 levels were increased earlier and more significantly than ALT and AST levels. Conclusion:GLDH, PNP, α-GST and Arg1 can be used as biomarkers for early detection of alcoholic liver injury.

9.
Chinese Journal of Geriatrics ; (12): 726-727, 2015.
Article in Chinese | WPRIM | ID: wpr-466459

ABSTRACT

Objective To assess the clinical efffects off Ipratropium bromide combined with atomization inhalation of budesonide via a ventilator with a Y-shaped connector on acute exacerbation off chronic obstructive pulmonary disease (AECOPD).Methods A total off 62 AECOPD patients treated at our hospital from June 2013 to September 2014 were randomly divided into the experimental group (n=31,treated with ipratropium bromide combined with atomization inhalation of budesonide) and the control group (n =31,treated with the same amount of saline).Results The airway pressure of mechanical ventilation,the time of mechanical ventilation and the time of staying in the intensive care unit all showed significant differences between the experimental and control groups [(25.4±5.2) cmH2O vs.(38.1±3.4) cmH2O,(6.5±1.3) d vs.(6.8±1.4) d,(8.9±2.1) d vs.(9.5±1.5) d,t=10.934,0.960,1.108,respectively,P<0.05 for all].The rate of tracheotomy was lower in the experimental group than in the control group (17/31 or 54.8% vs.20/31 or 64.5%,x2 =0.603,P<0.05).Conclusions Ipratropium bromide combined with budesonide inhalation under mechanical ventilation via a Y-shaped connector has ffavorable clinical effects on AECOPD.

10.
J Environ Biol ; 2013 Apr; 34(2suppl): 459-464
Article in English | IMSEAR | ID: sea-148551

ABSTRACT

This study reports the performance of University of Cape Town (UCT) municipal wastewater treatment plant, during the startup stage with the focus on the relationship between hydraulic retention time (HRT) and biological nutrient removal (BNR) efficiency. The entire experimental period was 144 days, divided into four periods. Results showed that the removal efficiency of TN, NH4+-N, and Kjeldahl nitrogen (KN) was closely related to the HRT. Furthermore, the biodegradation kinetics analysis was used to calculate the specific degradation rates of pollutants. The GPS-X modeling was also used to examine the effect of the UCT pilot plant on BNR. The UCT pilot plant used in this study achieved high BNR efficiency even during the startup stage. With HRT of 24 hr (Period 1, day 1-40, data set 1-10), the highest levels of TN, NH4+-N and KN removal efficiency were approximately 72, 76 and 78%, respectively. The COD showed consistent high removal efficiency, with the highest level of approximately 96% at HRT of 15 hr (Period 3, day 81-120, data set 21-30). The TP removal efficiency rose at first and subsequently decreased abruptly. The maximum removal efficiency was 85% with HRT of 19 hr (Period 2, day 41-80, data set 11-20). With the optimal HRT 19 hr, the average removal efficiency values of COD, TP, TN, NH4+-N and KN were 89, 80, 65, 67 and 68%, respectively. The GPS-X modeling results indicated that the UCT process was effective in COD, TP and TN removal.

11.
J Environ Biol ; 2013 Apr; 34(2suppl): 375-380
Article in English | IMSEAR | ID: sea-148541

ABSTRACT

In order to comprehensively characterize the copper and cadmium resistance in activated sludge of a tannery wastewater treatment plant, a resistance protein database of the two heavy metals was manually created by retrieving annotated sequences and related information from the public databases and published literatures. The metagenomic DNA was extracted from the activated sludge for Illumina high-throughput sequencing, and the obtained 11,973,394 clean reads (1.61 Gb) were compared against the established databases using BLAST tool. Annotations of the BLAST hits showed that 222 reads (0.019‰) and 197 reads (0.016‰) were identified as copper and cadmium resistance genes, respectively. Among the identified cadmium resistance genes, czcA encoding cobalt-zinc-cadmium resistance protein had the highest abundance (83 reads, 0.0069‰), which was further confirmed by annotation of the open reading frames predicted with the assembly contigs. Among the copper resistance genes, copA (66 reads, 0.0055‰) was most abundant, followed by copK and cusR. Alignment against the Clusters of Orthologous Groups (COG) database also suggested that 87.26% of the matched reads were grouped in COG0474 (cation transport ATPase). This study may be practically helpful for exploring various functional genes in the environment using high-throughput sequencing and bioinformatics methods.

12.
Article in Chinese | WPRIM | ID: wpr-254526

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males.</p><p><b>METHODS</b>Genomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced.</p><p><b>RESULTS</b>CFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles.</p><p><b>CONCLUSION</b>This study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.</p>


Subject(s)
Humans , Male , Alleles , Asian People , Genetics , Cystic Fibrosis Transmembrane Conductance Regulator , Genetics , Genetic Predisposition to Disease , Introns , Male Urogenital Diseases , Genetics , Mutation , Polymorphism, Genetic , Vas Deferens , Congenital Abnormalities
13.
Article in Chinese | WPRIM | ID: wpr-306335

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the potential role of p38 mitogen-activated protein kinase (MAPK) in the orofacial inflammatory pain.</p><p><b>METHODS</b>SD rats received subcutaneous injection of 2.5% formalin 50 µl in the left vibrissa pad to establish the inflammatory pain model. The rats were grouped into the control group, the formalin group (FOR group), the formalin + saline group (FOR + NS group) and the formalin + SB203580 group (FOR + SB group). SB203580 or saline was inserted into the rat's cisterna magna 20 minutes prior to the formalin injection, then the behavioral changes were tested. The immunofluorescence staining and Western blotting analysis were performed to examine c-fos, p38MAPK and phosphorylated p38 (p-p38) activity in Vc at 20, 60, 120, 180 minutes after formalin injection.</p><p><b>RESULTS</b>p38MAPK was constitutively expressed in Vc (P > 0.05) and p38MAPK was activated following formalin injection.Compared with the control group at 20 min (0.12 ± 0.01), the level of p-p38 in FOR group (0.66 ± 0.04) and FOR + NS group (0.64 ± 0.04) increased significantly (P < 0.001). The expression of p-p38 peaked at 20 minutes, and then declined in each group. Intracisterna magna pretreatment of p38MAPK inhibitor SB203580 resulted in potent attenuation of phase II of pain behavior (P < 0.05), while the expression of c-fos was also inhibited, especially at the point of 120 min (P < 0.01).</p><p><b>CONCLUSIONS</b>Activation of p38 mitogen-activated protein kinase played a major role in the development of orofacial inflammatory pain and it was verified by the experimental result that p38MAPK inhibitor SB203580 inhibited the formalin-induced orofacial pain.</p>


Subject(s)
Animals , Male , Rats , Anti-Inflammatory Agents, Non-Steroidal , Pharmacology , Behavior, Animal , Enzyme Inhibitors , Pharmacology , Facial Pain , Metabolism , Formaldehyde , Imidazoles , Pharmacology , Phosphorylation , Proto-Oncogene Proteins c-fos , Metabolism , Pyridines , Pharmacology , Rats, Sprague-Dawley , Trigeminal Caudal Nucleus , Metabolism , p38 Mitogen-Activated Protein Kinases , Metabolism
14.
Article in Chinese | WPRIM | ID: wpr-349029

ABSTRACT

<p><b>OBJECTIVE</b>To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome.</p><p><b>METHODS</b>Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation.</p><p><b>RESULTS</b>Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56C >T, 6C >G, 2A >G, 2G >T and 1A >T) mutations. The mutation types of the 3 patients with maternal origin included 2 frame shift and 1 point (C >T) mutation.</p><p><b>CONCLUSION</b>In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.</p>


Subject(s)
Child, Preschool , Female , Humans , Male , Base Sequence , DNA Mutational Analysis , Fathers , Methyl-CpG-Binding Protein 2 , Genetics , Mothers , Mutation , Genetics , Parents , Polymorphism, Single Nucleotide , Rett Syndrome , Genetics
15.
Chinese Journal of Pediatrics ; (12): 565-569, 2009.
Article in Chinese | WPRIM | ID: wpr-360330

ABSTRACT

<p><b>OBJECTIVE</b>Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. Recently, DNA mutations in the MECP2 have been detected in approximately 84.7% of patients with RTT in China. To explain the sex-limited expression of RTT, it has been suggested that de novo X-linked mutations occur exclusively in male germ cells resulting therefore only in affected daughters. To test this hypothesis, we have analyzed the parental origin of mutations and the XCI status in 15 sporadic cases with RTT due to MECP2 molecular defects.</p><p><b>METHODS</b>Allele-specific PCR was performed to amplify a fragment including the position of the mutation. The allele-specific PCR products were sequenced to determine which haplotype contained the mutation. It was then possible to determine the parent of origin by genotyping the single nucleotide polymorphism (SNP) in the parents. The degree of XCI and its direction relative to the X chromosome parent of origin were measured in DNA prepared from peripheral blood leucocytes by analyzing CAG repeat polymorphism in the androgen receptor gene (AR).</p><p><b>RESULTS</b>Except for 2 cases who had a frameshift mutation; all the remaining 13 cases had a C-->T transition mutation. Paternal origin has been determined in all cases with the C-->T transition mutation. For the two frameshift mutations, paternal origin has been determined in one case and maternal origin in the other. The frequency of male germ-line transmission in mutations is 93.3%. Except for 2 cases who were homozygotic at the AR locus, of the remaining 13 cases, 8 cases had a random XCI pattern; the other five cases had a skewed XCI pattern and they favor expression of the maternal origin allele.</p><p><b>CONCLUSION</b>De novo mutations in sporadic RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in sporadic cases with RTT. Random XCI was the main XCI pattern in sporadic RTT patients. The priority inactive X chromosome was mainly of paternal origin.</p>


Subject(s)
Female , Humans , Male , Chromosome Aberrations , Chromosomes, Human, X , Methyl-CpG-Binding Protein 2 , Genetics , Mutation , Polymorphism, Single Nucleotide , Rett Syndrome , Genetics , X Chromosome Inactivation
16.
Chinese Journal of Pediatrics ; (12): 124-128, 2009.
Article in Chinese | WPRIM | ID: wpr-360362

ABSTRACT

<p><b>OBJECTIVE</b>Rett syndrome (RTT) is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. The aim of this study was to investigate the correlation between MECP2 genotype and phenotype and thereby not only to provide assistance for clinical care, but also facilitate clinical genetic counseling.</p><p><b>METHOD</b>Individual phenotype characteristic and clinical severity of 126 children with RTT diagnosed by molecular genetic methods were evaluated by using scales of Kerr et al and Scala et al. Statistical package SPSS 12.0 was used for analyses of data. Since the majority of the data were not normally distributed, non-parametric tests were used. The Kruskal-Wallis test/Wilcoxon Mann-Whitney test was employed to compare total severity phenotype scores. The Fisher exact test was used for comparing rates. Statistical significance was set at P < 0.05.</p><p><b>RESULT</b>There were no significant differences in the average overall scores for RTT patients with mutations in the region of methyl-CpG-binding domain (MBD) compared with those mutations in the transcription repression domain (TRD) and C terminal segment (CTS), also patients with nonsense mutations compared with missense mutations, frameshift mutations and large deletions (P > 0.05). The RTT patients with nonsense mutations located in the region of MBD have more severe phenotype than those with missense mutations in the same region (P = 0.016). Among p.T158M, p.R168X, c.806delG and p.R255X, there were no significant differences in the average overall scores (P > 0.05), but there were significant differences in language skill (P = 0.028) and in language impairment rate at different level (P = 0.019).</p><p><b>CONCLUSION</b>There are relationships between MECP2 genotype and phenotype:the RTT patients with nonsense mutations located in MBD tend to develop more severe phenotype;there are significant differences in language skill and language impairment rate in the groups with p.T158M, p.R168X, c.806del and p.R255X, which had higher frequency in children below five-years of age and the p.R168X present with most severe impairment.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Genotype , Methyl-CpG-Binding Protein 2 , Genetics , Phenotype , Rett Syndrome , Genetics
17.
Article in Chinese | WPRIM | ID: wpr-349061

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the incidence of abnormal karyotypes and Y chromosome microdeletion in Chinese men with azoospermia, and the relationship with reproductive hormones.</p><p><b>METHODS</b>Four hundred and eighty nine cases of azoospermic patients and 20 fertile men were studied. Karyotypes and Y chromosome microdeletion were analyzed by G-banding and mutiplex polymerase chain reaction, respectively. Chemiluminescene immunoassay technique was applied to measure the serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T), and prolactine (PRL).</p><p><b>RESULTS</b>Chromosome abnormalities were found in 102 out of 489 azoospermic patients (20.86%), among them 86 (84.31%) cases had sex chromosome abnormalities, with 73 cases being Klinefelter syndrome. Y chromosome microdeletions were detected in 58 (11.86%) cases out of the 489 patients, and deletion of the AZFc region was the leading group (63.8% of all deletions), followed by AZFbc (19.0%), AZFabc (10.3%), AZFb or AZFa (3.4%). FSH, LH levels were significantly increased and T level was decreased in azoospermic patients compared with the fertile men group (P<0.01). Furthermore, in the azoospermic patients with Klinefelter syndrome or AZFabc microdeletions, FSH and LH levels were increased more significantly, and were statistically different from azoospermic patients with normal karotype or without Y chromosome microdeletion (P<0.05).</p><p><b>CONCLUSION</b>In the Chinese men with azoospermia, the incidence of abnormal karyotype and Y chromosome microdeletion were similar to those described previously in other populations. In azoospermia with Klinefelter syndrome or AZFabc microdeletions, FSH and LH levels increased markedly indicating the protracted stimulation of gonadotrophs due to lack of androgen feedback.</p>


Subject(s)
Adult , Humans , Male , Azoospermia , Blood , Genetics , Case-Control Studies , Chromosomes, Human, Y , Genetics , Follicle Stimulating Hormone , Blood , Genetic Association Studies , Genetic Loci , Karyotyping , Luteinizing Hormone , Blood , Prolactin-Releasing Hormone , Blood , Seminal Plasma Proteins , Genetics , Sequence Deletion , Testosterone , Blood
18.
Article in Chinese | WPRIM | ID: wpr-259254

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the left ventricular systolic asynchrony in patients with uremic myocardiopathy (UM) using tissue synchronization imaging (TSI).</p><p><b>METHODS</b>Ultrasound system with TSI and Q-analyze software were used. Thirty-five patients with UM were enrolled in the study,and thirty normal subjects were included as the control group.</p><p><b>RESULT</b>The total and mean time to peak velocity (Tc) corrected by the heart rate of all segments in UM group were longer than those in the control group (P<0.05), and the time to peak velocity of most segments in UM group was also longer (P<0.05). Delayed time to peak velocity was found in 175 (175/420) segments in UM group and left ventricular systolic asynchrony was detected in 65.7% (23/35).</p><p><b>CONCLUSION</b>TSI can detect the ventricular systolic asynchrony in patients with uremic myocardiopathy and provide reliable parameters for clinical management.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cardiomyopathies , Case-Control Studies , Echocardiography , Methods , Systole , Physiology , Uremia , Ventricular Dysfunction, Left , Diagnostic Imaging
19.
Article in Chinese | WPRIM | ID: wpr-977663

ABSTRACT

@#The inflammatory reaction after acute cerebral infarction can aggravate the cerebral ischemic reperfusion injury.Activation of peroxisome proliferator-activated receptors-γ(PPAR-γ) has neuroprotective effects by which induces anti-inflammatory actions in cerebral ischaemia,thus as a potential novel pharmacological target for ischemic stroke was regarded.Acupuncture can improve cerebral ischemia injury by inhibiting synthesis of inflammatory cytokines,downregulating expressions of inflammatory mediators and adhesion molecule,suppressing the functions of inflammatory cells.Therefore,it will be a promising orientation to sift the effective acupuncture for that can stimulate the activation of PPAR-γ,and the research of mechanism of acupuncture on anti-inflammatory reaction after cerebral ischemic by activating PPAR-γ dependent pathways.

20.
National Journal of Andrology ; (12): 26-28, 2005.
Article in Chinese | WPRIM | ID: wpr-267764

ABSTRACT

<p><b>OBJECTIVE</b>To explore the reductive effect of ornidazole on sperm motility in rats and its mechanism of action.</p><p><b>METHODS</b>Twenty rats were randomly divided into three groups, a low dosage group (LD group, n = 5), a high dosage group (HD group, n = 8) and a normal control group (n = 7). Ornidazole (200 mg/kg, 400 mg/kg) was given to the LD and HD groups, and 0.5% carboxymethylcellulose sodium (CMC) administered to the normal control, all for 20 consecutive days. Immediately after, sperm density, motility and the morphological changes of the testis and epidiclymis were measured, and the concentrations of lactate dehydrogenase (LDH), alpha-glycosidase, malondialdehyde (MDA) and fructose in the testis and epididymis tissues were monitored.</p><p><b>RESULTS</b>Compared with the normal control, there were no obvious changes in sperm density (P > 0.05), but a significant decrease in sperm motility in the LD and HD groups (P < 0.01), and the concentration of LDH obviously declined (P < 0.01) while that of MDA distinctly increased in the HD group (P < 0.05).</p><p><b>CONCLUSION</b>Spermatogenic cells could be damaged by the increase of inhibiting MDA, while sperm motility could be decreased by inhibiting energetic transferase or non-protein substance in the epididymis. This might be one of the mechanisms of ornidazole on weak sperm models in rats.</p>


Subject(s)
Animals , Male , Rats , Dose-Response Relationship, Drug , Epididymis , Cell Biology , Ornidazole , Pharmacology , Rats, Sprague-Dawley , Sperm Count , Sperm Motility , Spermatozoa , Testis , Cell Biology
SELECTION OF CITATIONS
SEARCH DETAIL