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1.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 199-208, 2023.
Article in Chinese | WPRIM | ID: wpr-973150

ABSTRACT

Gastroesophageal reflux disease (GERD) is a frequently and commonly occurring disease in clinic. In recent decades, with the development in pathophysiology and drug researches, modern medicine has achieved remarkable progress and results in diagnosis and treatment. However, the treatments for non-erosive reflux disease, refractory gastroesophageal reflux disease, proton pump inhibitor resistance, overlap of disease symptoms, and extraesophageal symptoms are limited and ineffective. Traditional Chinese medicine (TCM) was widely used in clinical practice, which has been proved effective in relieving symptoms and improving the quality of life. Sponsored by China Association of Chinese Medicine (CACM) and undertaken by the Spleen and Stomach Disease Branch of CACM, "the 12th Youth Salon of Clinical Predominance Disease Series (GERD)" invited 18 authoritative digestive experts of TCM and western medicine to discuss "the difficulties of clinical diagnosis and treatment of GERD and TCM advantages". The focus issues such as modern medical diagnosis and treatment achievements and contributions, improvement and maintenance of symptoms, response to overlapping disease symptoms, reduction and withdrawal of acid suppressors, and treatment of extra-esophageal symptoms were discussed in depth. TCM and western medicine exchanged and complemented each other's strengths, combing the difficulties of modern medical diagnosis and treatment, which clarified the positioning and advantages of TCM and provided guidance for clinical and scientific research.

2.
Chinese Journal of Medical Genetics ; (6): 322-327, 2023.
Article in Chinese | WPRIM | ID: wpr-970926

ABSTRACT

OBJECTIVE@#To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene.@*METHODS@#Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed.@*RESULTS@#All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up.@*CONCLUSION@#Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.


Subject(s)
Child , Male , Infant, Newborn , Female , Humans , Retrospective Studies , Hypothyroidism/genetics , Genetic Testing , Mothers , Immunoglobulins/genetics , Membrane Proteins/genetics
3.
Chinese Journal of Endocrinology and Metabolism ; (12): 1090-1094, 2022.
Article in Chinese | WPRIM | ID: wpr-994288

ABSTRACT

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

4.
Chinese Journal of Medical Genetics ; (6): 942-946, 2021.
Article in Chinese | WPRIM | ID: wpr-921972

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.@*METHODS@#A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.@*RESULTS@#The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).@*CONCLUSION@#Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.


Subject(s)
Child , Humans , Aggrecans/genetics , Body Height/genetics , China , Genetic Testing , Pedigree , Retrospective Studies
5.
Chinese Journal of Endocrinology and Metabolism ; (12): 593-597, 2020.
Article in Chinese | WPRIM | ID: wpr-870074

ABSTRACT

Objective:To investigate the clinical and genetic characteristics of a boy with Ulnar-Mammary syndrome(UMS), and to review the literature.Methods:The clinical and genetic data of a boy with UMS, who was admitted to the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Soochow University in May 2018 were analyzed. Original papers on UMS published up to July 2019 were retrieved.Results:A male patient at the age of 12 years and 8 months visited us for growth retardation. He presented with high forehead, epicanthic folds, broad nasal tip, anteverted nostrils, high palate, dental crowding, mammary gland hypoplasia, and absence of axillary hairs, with height 148.9 cm(<-1 SD). Growth hormone stimulation test indicated growth hormone deficiency(growth hormone peak <5 ng/ml). After one year of treatment with recombinant human growth hormone, his height was improved. Gene sequencing identified a de novo heterozygous mutation of TBX3 c. 711DelC(p.N238Mfs* 4). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases.However, this mutation was not detected in his parents.Conclusion:UMS should be considered in dwarfism with special face, dysplasia of external genitalia, sweat glands, and mammary glands, and TBX3 is a pathogenic gene.

6.
Chinese Journal of Cardiology ; (12): 123-128, 2019.
Article in Chinese | WPRIM | ID: wpr-810441

ABSTRACT

Objective@#To investigate the value of fibrinogen to albumin ratio (FAR) at admission on predicting spontaneous recanalization of infarct-related artery (IRA) in patients with acute ST-segment elevation myocardial infarction (STEMI).@*Methods@#Clinical data from 255 acute STEMI patients ((61.1±11.2) years old, 189 males) who underwent emergency coronary angiography within 12 hours in our hospital from December 2015 to April 2018 were retrospectively analyzed. The acute STEMI patients were divided into non-spontaneous recanalization group (thrombolysis in myocardial infarction (TIMI) flow grade 0-1, 203 cases) and spontaneous recanalization group (TIMI flow grade 2-3, 52 cases). Multivariate logistic regression analysis was used to evaluate related factors of IRA spontaneous recanalization. The receiver operating characteristic (ROC) curve was used to evaluate the value of FAR in predicting spontaneous coronary recanalization.@*Results@#There was no significant difference in age,gender, hypertension, diabetes, smoking,systolic blood pressure,diastolic blood pressure,heart rate, duration of chest pain, type of infarction, infarct-related artery, door-to-balloon time, and drug used before admission between non-spontaneous recanalization group and spontaneous recanalization group (all P>0.05). The FAR and high-sensitivity C-reactive protein levels were significantly lower in the spontaneous recanalization group than in the non-spontaneous recanalization group (8.20±1.85 vs. 11.02±2.75, P<0.001; (6.87±3.36) g/L vs. (8.51±3.72) g/L, P=0.004). Multivariate logistic regression analysis showed that FAR (OR=0.492, 95%CI 0.354-0.686, P<0.001), serum uric acid (OR=0.994, 95%CI 0.989-0.999, P=0.018) and high-sensitivity C-reactive protein (OR=0.774, 95%CI 0.614-0.975, P=0.030) were independent negative correlation with spontaneous recanalization of infarct-related artery in patients with acute STEMI. The ROC curve showed that the area under the curve of FAR predicting spontaneous recanalization of infarct-related artery in patients with acute STEMI was 0.807 (95%CI 0.630-0.758, P<0.001), and the diagnostic threshold was 9.26, the sensitivity was 76.9%, the specificity was 75.9%.@*Conclusion@#The level of admission FAR has certain predictive value for spontaneous recanalization of infarct-related arteries in patients with acute STEMI.

7.
Chinese Journal of Pediatrics ; (12): 953-956, 2017.
Article in Chinese | WPRIM | ID: wpr-810914

ABSTRACT

Objective@#To analyze the clinical characteristics of children with two types of thyroid hormone resistance (RTH) syndrome, and to detect the variants of thyroid hormone receptor alpha(TRα) and TRβ gene in children.@*Method@#Two children with RTH were reported in regard to clinical manifestation, laboratory examination and genetic variants. Some related reports in literature were reviewed.@*Result@#Case 1 was a girl, 10 years old, with thyroid enlargement for several days and without thyrotoxicosis. Laboratory work-up revealed that free thyroxine (FT4) was 65.77 pmol/L (reference 12-22) , free triiodothyronine (FT3) was 15.36 pmol/L (reference 3.1-6.8) and thyroid stimulating hormone (TSH) level was normal. There was a likely pathogenic missense variant detected in TRβ gene and this patient was diagnosed with RTHβ. Case 2 was a boy, 3 years old, with classic features of hypothyroidism(growth retardation, developmental retardation, skeletal dysplasia) but had only borderline-abnormal thyroid hormone levels. Targeted sequencing showed a de novo heterozygous nonsense variant in TRα gene which is a pathogenic variant and this patient been diagnosed with RTHα.@*Conclusion@#Thyroid enlargement is a common clinical manifestation of RTHβ, with laboratory work-up reveals elevated FT4 and FT3 levels but TSH level is normal. The clinical manifestations of RTHα are similar to those of hypothyroidism, but the thyroid hormone levels are almost normal. The gene sequence and the pathogenicity analysis for TRα and TRβ will help to make a definitive diagnosis.

8.
Chinese Journal of Gastroenterology ; (12): 59-62, 2017.
Article in Chinese | WPRIM | ID: wpr-508453

ABSTRACT

Irritable bowel syndrome( IBS)is a common functional gastrointestinal disease,relevant investigations on pathogenesis of IBS mainly focus on genetic susceptibility, social psychological stress, visceral hypersensitivity, dysregulation of brain-gut axis,dysbiosis of intestinal flora,and dysimmunity of intestinal mucosa. This article reviewed the correlation between dysbiosis of intestinal microbiota and dysregulation of brain-gut axis in IBS.

9.
Chinese Journal of Information on Traditional Chinese Medicine ; (12): 128-133, 2017.
Article in Chinese | WPRIM | ID: wpr-506280

ABSTRACT

Functional gastrointestinal disease is a group of clinical syndrome of non-organic disease. Its various clinical symptoms have a certain specificity and overlap phenomenon, and the mechanism is not clear. TCM believes thatphychological factorsare an important cause. Emotion failurecan effect spleen and stomach functionthrough liver and heart directly or indirectly.At present, the phychological factors and the relationship between functional gastrointestinal disease are getting attentiongradually. It is recognized that the mechanism of phychological factorsmay be related to brain axis dysfunction, mast cell activation, intestinal flora and so on. This article expounded the above-mentioned mechanism and reviewed the detailed TCM intervention measures to functional gastrointestinal disease in recent years.

10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 120-123, 2016.
Article in Chinese | WPRIM | ID: wpr-491676

ABSTRACT

Objective To explore the effect of neonatal exposure to different doses of Bisphenol A (BPA)on the hypothalamic -pituitary -testis axis in toddler and adolescent male rats.Methods Neonatal male Sprague -Daw-ley rats were randomly divided into 5 groups through random digital table method:control group,vehicle group,low -dose BPA [25 μg/(kg · d)]group,medium -dose BPA [50 μg/(kg · d)]group and high -dose BPA [250μg/(kg·d)]group.The rats were subcutaneously injected with respective agents on postnatal days 1 -7 (PND 1 -7).Pups were sacrificed on PND 22 and PND 50.The hypothalamus and testis were taken and weighed.The hypotha-lamic Kiss -1 mRNA and the testis androgen receptor (AR)mRNA were tested by using real -time fluorescence quan-titative and the levels of serum luteinizing hormone (LH),follicle stimulating hormone (FSH),testosterone (T)were tested by using radio immunity method,and inhibin B was measured by using enzyme linked immunosorbent assay. Results Compared with the controls,the level of serum FSH [(1 .610 0 ±0.693 2)IU /L,(1 .574 3 ±0.675 0)IU /L vs (2.362 9 ±0.580 3)IU /L](F =3.314,P =0.026),LH [(3.876 3 ±0.908 0)IU /L,(3.603 8 ±1 .350 2)IU /L vs (5.302 5 ±0.768 4)IU /L](F =3.1 39,P =0.027)and T [(0.383 8 ±0.1 77 8)μg/L,(0.442 5 ±0.21 4 1 )μg/L vs (0.782 5 ±0.282 1 )μg/L](F =5.1 06,P <0.01 )of medium and high -dose BPA groups,were decreased in PND 22,and the organ coefficient of testis [(0.952 90 ±0.049 1 5)%,(0.969 20 ±0.045 82)% vs (1 .022 80 ± 0.01 1 08)%](F =1 0.326,P <0.01 )and serum T [(1 .758 6 ±0.369 6)μg/L,(1 .71 8 8 ±0.395 7)μg/L vs (3.357 5 ±0.749 8)μg/L](F =1 3.799,P =0.01 2)were significantly decreased in PND 50.In high -dose BPA group of PND 22,the expression of hypothalamic Kiss -1 mRNA (0.068 80 ±0.01 1 79)was increased compared with the other groups (F =272.1 25,P <0.01 ),while in PND 50,compared with control group,the Kiss -1 mRNA (0.002 00 ±0.000 25,0.001 90 ±0.000 48 vs 0.001 40 ±0.000 1 7)of medium -and high -dose BPA groups was decreased(F =1 91 .826,P <0.01 ).Conclusions Neonatal exposure to the medium and high -dose BPA may impair the function of testis in toddler and adolescent male rats,and affect the hypothalamus -pituitary -testis axis.Neonatal exposure to the low -dose BPA does not have a significant influence on the hypothalamus -pituitary -testis axis.

11.
Chinese Journal of Biochemical Pharmaceutics ; (6): 115-117, 2016.
Article in Chinese | WPRIM | ID: wpr-486416

ABSTRACT

Objective To observe the effects of Taohechengqitang combined with danazol on CA125 and gonadal hormone in the treatment of patients with endometriosis.Methods 77 cases from July 2014 to January 2015 in department of obstetrics and gynecology of Daqing Longnan hospital were selected and divided into observation group of 40 cases and control group of 37 cases according to double-blind randomized.The observation group were treated with Taohechengqitang joint danazol treatment, and the control group were treated with danazol alone.The estradiol ( E2 ) , progestogen (P), cancer antigen 125 (CA125), thromboxane B2 (TXB2), endometrial cysts size and dysmenorrheal score pre-and post-treatment between two groups were compared.Results The contents of E2 and P post-treatment in observation group were lower than those in control group (P<0.05).The serum TXB2 and CA125 levels post-treatment in observation group were lower than those in control group (P<0.05).The endometrial cysts size and dysmenorrheal score post-treatment in observation group were lower than those in control group (P<0.05).The total efficacy in observation group was higher than that in control group (P<0.05).Conclusion Taohechengqitang combined with Danazol could reduce the CA125, E2 and P levels, relieve symptoms of dysmenorrhea and reduce the cyst volume, whose efficacy is exact.

12.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 591-594, 2015.
Article in Chinese | WPRIM | ID: wpr-939441

ABSTRACT

@#Objective To observe the effects of low frequency ultrasound on carotid artery plaque and artery stenosis. Methods 156 patients with carotid atherosclerosis were divided into treatment group (n=80) and control group (n=76). The control group was administered routine medicine, while the treatment group accepted low frequency ultrasound therapy in addition. The size and shape of carotid artery plaque, severity of stenosis and the level of lipid were observed before and after treatment, and the side-effects were recorded. Results The intima-media thickness (IMT), diameter of plaque, plaque score decreased after treatment in both groups, and decreased more in the treatment group than in the control group (P<0.05); while the frequence of moderate stenosis and severe stenosis was less (P<0.05). The levels of low density lipoprotein- cholesterol and total cholesterol decreased in both groups after treatment (P<0.05), and decreased more in the treatment group than in the control group (P<0.05). No serious side-effect was observed. Conclusion Low frequency ultrasound can reduce the atherosclerotic plaques in carotid artery and relieve the stenosis.

13.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 591-594, 2015.
Article in Chinese | WPRIM | ID: wpr-464461

ABSTRACT

Objective To observe the effects of low frequency ultrasound on carotid artery plaque and artery stenosis. Methods 156 pa-tients with carotid atherosclerosis were divided into treatment group (n=80) and control group (n=76). The control group was administered routine medicine, while the treatment group accepted low frequency ultrasound therapy in addition. The size and shape of carotid artery plaque, severity of stenosis and the level of lipid were observed before and after treatment, and the side-effects were recorded. Results The intima-media thickness (IMT), diameter of plaque, plaque score decreased after treatment in both groups, and decreased more in the treat-ment group than in the control group (P<0.05);while the frequence of moderate stenosis and severe stenosis was less (P<0.05). The levels of low density lipoprotein-cholesterol and total cholesterol decreased in both groups after treatment (P<0.05), and decreased more in the treatment group than in the control group (P<0.05). No serious side-effect was observed. Conclusion Low frequency ultrasound can reduce the atherosclerotic plaques in carotid artery and relieve the stenosis.

14.
World Science and Technology-Modernization of Traditional Chinese Medicine ; (12): 1876-1882, 2015.
Article in Chinese | WPRIM | ID: wpr-481458

ABSTRACT

This study was aimed to quickly and accurately identify different origins and categories of commodity edible bird’s nest (EBN) using DNA barcoding technique, in order to reveal its genetic differences. The total genomic DNA was isolated from the EBN samples. And Cytb gene sequences were amplified and sequenced by PCR. Then, 32 sequences were aligned and analyzed with DNAStar and MEGA 6.0 software. NJ phylogenetic tree was constructed. The nearest distance was calculated. The results showed that the original species of 32 samples of EBN were identified.Aerodramus fuciphagus was the genetic origin of 23 white nest samples. AndAerodramus fuciphagus germaniwas the genetic origin of the other 8 samples. The origin of black nest sample wasAerodramus maximusorAerodramus maximus lowi. It was concluded that the genetic origin of different EBN categories was variant. The identification of EBN’s origin species with Cytb sequence was quick and accurate.

15.
Chinese Journal of Digestion ; (12): 455-459, 2015.
Article in Chinese | WPRIM | ID: wpr-477844

ABSTRACT

Objective To explore the distribution of the liquid food in the stomach of patients with postprandial distress syndrome (PDS)-predominated functional dyspepsia (FD)and the mechanism of its gastric dynamic dysfunction.Methods Fifty-two patients with PDS and 18 healthy volunteers underwent gastric emptying examination with ultrasound scanner provided.The proximal and distal gastric area and volume,area and volume ratio of proximal and distal gastric as well as emptying rate of proximal and distal gastric were calculated at fasting,maximum satiety,30 min,60 min,90 min and 120 min after meal. Student′s t test andχ2 test were performed for statistical analysis.Results Proximal gastric volume of PDS group at the time of fasting and 120 min after meal were (9.06±7.88)and (24.72±24.02)cm3 ,which were larger than those of healthy control group ((5 .96 ± 2.13 )cm3 ,(19.48 ± 12.32 )cm3 ),and the differences were statistically significant (t=-1 .637 and -0.875 ,both P distal gastric volume in PDS group and healthy group at fasting was 0.60 ± 0.38 and 0.46 ± 0.19, respectively,that at maximum satiety was in PDS group and healthy group 0.91 ±0.27,1 .30 ±0.48, respectively,and the differences were statistically significant (t = - 1 .505 and 3.970,both P 0.05 ).Conclusions The volume of distal stomach was larger than that of proximal stomach in PDS patients at maximum satiety in liquid food distribution,which may be the cause of decreasing emptying rate of proximal stomach.And proximal stomach dominated gastric motility in PDS patients.

16.
Journal of Clinical Pediatrics ; (12): 155-159, 2015.
Article in Chinese | WPRIM | ID: wpr-462207

ABSTRACT

Objective To study the relationship between bisphenol A and precocious puberty in 6-8 years girls. Meth-ods Atotal of 103 girls aged 6-8 years with precocious puberty in our Endocrine clinic from August to December 2012 were se-lected. According to the classiifcation standard of precocious puberty, girls are divided into idiopathic central precocious puberty (ICPP) group (n=47) and permature thelarche (PT) group (n=56), 53 girls with no puberty development were chosen as control group. BPA concentrations were determined with HPLC-MS-MS, sex hormones were determined with chemiluminescence meth-od and Kisspeptin concentrations were determined with ELISA, then the differences among the three groups were compared and the relationships between bisphenol A and sex hormones and Kisspeptin were analyzed. Results The BPA relevance ratio and concentration in ICPP group were higher than those of PT group and control group (P0.05). There were correlations between the concentrations of BPA and E2 and LH peak concentration and LH/FSH (P<0.05). Conclusions There is a certain correlation between the concentrations of BPA and ICPP.

17.
Practical Oncology Journal ; (6): 310-314, 2014.
Article in Chinese | WPRIM | ID: wpr-499207

ABSTRACT

Objective To study effects of signal transducer and activator of transcription 3(STAT3)gene on lung adenocarcinoma cells′EMT.Methods We observed morphological changes of the cells and detected the expression of STAT 3 and Twist by western blot after STAT3-siRNA plasmid was transfected into A549 cells. Meanwhile ,we observed invasion and migration ability of A 549 cells using transwell method and wound healing assay .Eventually ,we verified the correlation between STAT 3 and Twist expression in lung adenocarcinoma tissues by immunohistochemical method .Results si-STAT3 significantly down-regulated the expression of STAT 3 in A549 cells,and pronouncedly inhibited migration and invasion of A 549 cells in vitro.Meanwhile,we also found decreased expression of Twist .The expression of STAT3 was positively correlated with the expression of Twist in lung adenocarcinoma tissue specimens and the expression of two genes was reversely correlated with tissue differ -entiation degree .Conclusion The STAT3 participated in the process of EMT by regulating twist expression , which played a vital role in progression of lung adenocarcinoma .

18.
Chinese Journal of Experimental Ophthalmology ; (12): 728-733, 2014.
Article in Chinese | WPRIM | ID: wpr-636864

ABSTRACT

Background Primary open angle glaucoma (POAG) is one of the frequent glaucomatous types,and genetic factor participates in pathogenesis and development of the disease.Recently,MYOC mutation was found to be associated with POAG.Objective This study was to describe the clinical and genetic findings in a POAG family from Luoyang,China.Methods This study protocol was approved by Ethic Committee of Affiliated First Hospital of Henan University of Science and Technology.The study adhered to Declaration of Helsinki.A POAG family with 29 members of 5 generations was surveyed and followed-up for 5-year duration.The mode of inheritance was determined by the pedigree analysis.The periphery blood sample was collected form 12 families and 100 health controls for the extraction of genomic DNA under the informed consent.The third exon and its flanking introns of MYOC were amplified,and quantitative real time PCR products were sequenced,and the structure and function of mutated gene were examined by restriction fragment length polymorphism analysis.The predicted effects of the detected variants on the secondary structure of MYOC protein were evaluated using Garnier-Osguthorpe-Robson (GOR) method,and homology analysis of protein was carried out by Blast software provided by National Center for Biotechnology Information (NCBI).Results This POAG family included 29 members of 5 generations,and the clinical data were not clear in 11 family members.Three individuals from 3 generations were determined POAG,another one was ocular hypertension,and 2 were carriers.Pedigree analysis appeared an autosomal dominant inheritance.In 12 subjects included 6 members genetically affected and 6 members with normal phenotype,the heterozygous mutation was found in the third exon of MYOC gene in 6 genetically affected members,which revealed a T→C transition at position 1021 (p.S341P),resulting in a switch of serine (Ser) to proline (Pro).It was a missense mutation abolished a CviKI-1 restriction site that segregated with the affected members.Secondary structure prediction of p.S341P suggested that myocilin protein was misfolded.Analysis of protein homology and switched Ser was conservative amine acid at position 1021 (p.S341P).No similar change was found in the 6 normal families and the normal controls.Conclusions Ser341Pro MYOC mutation is disease-causing factor in the POAG family of Luoyang.The clinical and genetic features of this mutation warrant further investigation.The mutation spectrum of MYOC is expanded to offer a better diagnosis and treatment for POAG patients.

19.
Chinese Journal of Tissue Engineering Research ; (53): 1935-1938, 2010.
Article in Chinese | WPRIM | ID: wpr-402951

ABSTRACT

BACKGROUND:Currently,there are many studies concerning the pathogenesis,process,and damage of glaucoma,however,there is not an ideal glaucoma modelOBJECTIVE:To prepare rabbit intraocular hypertension models using three different material injections,and to verify the practical value of intraocular hypetension modelsMETHODS:Thidy New Zealand rabbits were divided randomly into 3 groups,with 10 animals in each group.One eye of each rabbit was served as the experimental eyes and the other eye as control eyes.Autoblood.methyl cellulose,C3F8 was injected into the anterior chamber of the experimental eyes.and the normal saline was injected into the control eyes.The intraocular pressure(IOP)was monitored prior to injection and at hours 0,24,36,48,72,96.120 and 168 after injection.RESULTS AND CONCLUSION:Intraocular hype Rension models could be induced by injecting 3 kinds of materials,and the IOP was obviously increased after injection(P<0.05),and the ranges and periods of increasing were varied.The periods of increasing of 3 materials were 1,3 and 7 days,respectively,which could maintain for longer time for a second injection.The IOP ranged 1.86-6.65 kPa,and mild anterior segment inflammation could be found.The experiment demonstrated that intraocular hypeansion models using three different material injections are ideal models,which is characterized by simple,reliable and controllable.The suitable model can be selected for acute or chronic glaucoma research.

20.
Journal of International Oncology ; (12): 486-488, 2009.
Article in Chinese | WPRIM | ID: wpr-393905

ABSTRACT

Signal transdcuers and activators of transcription3 (Stat3) is activated by a wide range of cytokines and growth factors following binding to special DNA domain and affects the expression of a variety of genes in modulating the process of cell proliferation, differentiation, and apoptosis. As a point of convergence for many oncogenic tyrosine kinase signaling pathways,it can be activited by sevral accesses. Stat3 is not only in-volved in the function of both apoptosis suppression,proliferation promotion,but also participates the process of angiogenesis,invasion and immune evasion. For repression of this way maybe a new target for break of cancer in-vasion and metastasis,blockers of Stat3 has become the focus of many researches.

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