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1.
Journal of Experimental Hematology ; (6): 581-584, 2023.
Article in Chinese | WPRIM | ID: wpr-982098

ABSTRACT

Duodenal-type follicular lymphoma (DFL) is a unique subtype of follicular lymphoma (FL), which often involves the second portion of duodenum (descending part of duodenum). Due to its specific pathological features, such as lack of follicular dendritic cells meshwork and disappearance of activation-induced cytidine deaminase expression, DFL presents an inert clinical course and is often confined to the intestinal tract. Inflammation-related biomarkers suggest that the microenvironment may play a likely role in the pathogenesis and favorable prognosis of DFL. Since patients generally have no obvious clinical symptoms and low progression rate, the treatment regimen for DFL is mainly observation and waiting (W&W) strategy. This study will review the latest research progress of epidemiology, diagnosis, treatment and prognosis of DFL in recent years.


Subject(s)
Humans , Lymphoma, Follicular/drug therapy , Duodenal Neoplasms/pathology , Prognosis , Tumor Microenvironment
2.
World Journal of Emergency Medicine ; (4): 109-116, 2020.
Article in English | WPRIM | ID: wpr-787784

ABSTRACT

@#BACKGROUND: An increase in high-density lipoprotein (HDL) is well associated with a decreased cardiovascular risk, especially atherosclerosis. Recent studies suggest that lower levels of HDL may also be associated with an increased risk of sepsis and an increased rate of mortality in septic patients. However, this conclusion remains controversial. METHODS: MEDLINE, EMBASE, and CENTRAL databases were searched from inception to September 30, 2019. All studies were conducted to evaluate the correlation of lipoprotein levels and the risk and outcomes of sepsis in adult patients. The primary outcomes were the risk and mortality of sepsis. RESULTS: Seven studies comprising 791 patients were included. Lower levels of HDL had no marked relevance with the risk of sepsis (odds radio [OR] for each 1 mg/dL increase, 0.94; 95% CI 0.86–1.02; P=0.078), whereas lower HDL levels were related to an increased mortality rate in septic patients (OR for below about median HDL levels, 2.00; 95% CI 1.23–3.24; P=0.005). CONCLUSION: This meta-analysis did not reveal a significant association between lower HDL levels and an increase in the risk of sepsis, whereas it showed that lower HDL levels are associated with a higher mortality rate in septic adult patients. These findings suggest that HDL may be considered as a promising factor for the prevention and treatment of sepsis in the future.

3.
Acta Academiae Medicinae Sinicae ; (6): 846-850, 2017.
Article in English | WPRIM | ID: wpr-327737

ABSTRACT

The near-infrared spectroscopy has been applied to the continuous and noninvasive monitoring of regional cerebral oxygen saturation,providing information about the equilibrium between cerebral oxygen supply and consumption. This article reviews the mechanism,clinical application,and limitations of this technique.

4.
Journal of Medical Biomechanics ; (6): E444-E450, 2012.
Article in Chinese | WPRIM | ID: wpr-804005

ABSTRACT

Objective To explore postural stabilization of visual feedback to human body and its mechanisms. Methods Displacement of the center of pressure (COP) of 12 healthy young adult volunteers were investigated under upright posture with and without visual feedback conditions. The Brownian motion model was employed to compare the differences in diffusion coefficients, Hurst exponents, and critical points of the COP trajectories under the above two conditions, and one way repeated measures ANOVA was utilized to test the significance of these differences. ResultsUnder the visual feedback condition, in long-term time intervals, diffusion coefficients were reduced by about two thirds and Hurst exponents reduced by half; in short-term time intervals, no significant differences were found in diffusion coefficients in the medial-lateral (ML) direction and in Hurst exponents; in addition, the coordinates of the critical points presented no statistically significant differences in the time intervals except for the mean square displacement in the anterior posterior (AP) direction. ConclusionsVisual feedback enhances the closed-loop control mechanism of postural control, while it does not have great impact on the open-loop control mechanism and transitional characteristics of the two mechanisms; moreover, the effect of visual feedback on postural control in AP direction is more obvious than that in ML direction.

5.
Chinese Journal of Hepatology ; (12): 641-643, 2012.
Article in Chinese | WPRIM | ID: wpr-296836

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the occurrence and prognosis of telbivudine (LdT) therapy-associated elevations in creatine kinase (CK) in chronic hepatitis B (CHB) patients.</p><p><b>METHODS</b>Forty-nine patients treated with LdT from 2004 to 2010 were evaluated for development of CK elevation. In particular, the occurrences of grade 3/4 CK elevations (7-times the upper limit of normal (ULN)) and muscle damage were assessed over duration of the LdT treatment.</p><p><b>RESULTS</b>The rate of CK elevation increased with duration of LdT treatment (1 year: 61.2%; 5 years: 95.9%). In addition, the severity of CK elevation showed a trend for increasing with duration of LdT treatment, with grade 1/2 CK elevations increasing from 57.1% at year 1 to 81.6% at year 5 and grade 4 increasing from 4.1% at year 1 to 14.3% at year 5. Grade 3/4 CK elevations were observed in seven patients between LdT treatment weeks 36 and 168, but occurred most frequently between weeks 52 and 104, when the maximum peak value occurred (35.8-times the ULN). LdT treatment was stopped in two patients due to excessive CK elevation and one patient due to myositis. The majority of cases of LdT-associated grade 3/4 CK elevations were self-limiting, transient (decreasing to grades 0 or 2 within 2-3 weeks), and present without myalgia.</p><p><b>CONCLUSION</b>Elevation of CK was not rare in CHB patients treated with LdT, but most cases resolved spontaneously. In general, the severity and persistence of CK elevation was not sufficient to warrant withdrawal of LdT.</p>


Subject(s)
Adolescent , Adult , Aged , Humans , Middle Aged , Young Adult , Antiviral Agents , Therapeutic Uses , Creatine Kinase , Metabolism , Hepatitis B, Chronic , Drug Therapy , Metabolism , Thymidine , Therapeutic Uses
6.
Chinese Journal of Applied Physiology ; (6): 329-332, 2011.
Article in Chinese | WPRIM | ID: wpr-351162

ABSTRACT

<p><b>OBJECTIVE</b>To explore the patients' genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1).</p><p><b>METHODS</b>The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents. The protein structure and function were forecasted and analyzed by bioinformatics software.</p><p><b>RESULTS</b>Sequencing result showed 11 kinds of mutations, including 5 missense mutations (W400L, R299H, E294K, R77Q and K142M), 3 nonsense mutations (R116X, R278X and G295X), 2 insertion mutation (929insC and 232insGGG) and 1 splice site mutation (IVS1-3C > G). The nosogenesis was related to the change of protein structure and function in four pathological mutations.</p><p><b>CONCLUSION</b>It seemes that W400L is the frequent mutations, which accounted for about 30.0% in Chinese mainland OCA1 alleles. It is doable to make some reasonable interpretation about TYR gene nosogenesis by bioinformatics method.</p>


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Albinism, Oculocutaneous , Genetics , China , DNA Mutational Analysis , Genotype , Monophenol Monooxygenase , Genetics , Mutation
7.
Chinese Journal of Medical Genetics ; (6): 1-5, 2011.
Article in Chinese | WPRIM | ID: wpr-234330

ABSTRACT

<p><b>OBJECTIVE</b>To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China.</p><p><b>METHODS</b>PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at mid-pregnancy.</p><p><b>RESULTS</b>The three patients were all OCA4, whose genotypes were G349R/c.870delC, G349R/P419L and G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation.</p><p><b>CONCLUSION</b>This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c.870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Male , Pregnancy , Albinism, Oculocutaneous , Diagnosis , Genetics , Amino Acid Sequence , Antigens, Neoplasm , Chemistry , Genetics , Membrane Transport Proteins , Chemistry , Genetics , Molecular Sequence Data , Mutation , Prenatal Diagnosis , Sequence Analysis, DNA
8.
Chinese Medical Journal ; (24): 1642-1649, 2009.
Article in English | WPRIM | ID: wpr-292654

ABSTRACT

<p><b>BACKGROUND</b>Neural stem cells (NSCs) transplantation and gene therapy have been widely investigated for treating the cerebullar and myelonic injuries, however, studies on the ophthalmology are rare. The aim of this study was to investigate the migration and differentiation of brain-derived neurotrophic factor (BDNF) gene transgenic NSCs transplanted into the normal rat retinas.</p><p><b>METHODS</b>NSCs were cultured and purified in vitro and infected with recombinant retrovirus pLXSN-BDNF and pLXSN respectively, to obtain the BDNF overexpressed NSCs (BDNF-NSCs) and control cells (p-NSCs). The expression of BDNF genes in two transgenic NSCs and untreated NSCs were measured by fluorescent quantitative polymerase chain reaction (FQ-PCR) and enzyme-linked immunosorbent assay (ELISA). BDNF-NSCs and NSCs were infected with adeno-associated viruses-enhanced green fluorescent protein (AAV-EGFP) to track them in vivo and served as donor cells for transplantation into the subretinal space of normal rat retinas, phosphated buffer solution (PBS) served as pseudo transplantation for a negative control. Survival, migration, and differentiation of donor cells in host retinas were observed and analyzed with Heidelberg retina angiograph (HRA) and immunohistochemistry, respectively.</p><p><b>RESULTS</b>NSCs were purified successfully by limiting dilution assay. The expression of BDNF gene in BDNF-NSCs was the highest among three groups both at mRNA level tested by FQ-PCR (P < 0.05) and at protein level measured by ELISA (P < 0.05), which showed that BDNF was overexpressed in BDNF-NSCs. The results of HRA demonstrated that graft cells could survive well and migrate into the host retinas, while the immunohistochemical analysis revealed that transplanted BDNF-NSCs differentiated into neuron more efficiently compared with the control NSCs 2 months after transplantation.</p><p><b>CONCLUSIONS</b>The seed cells of NSCs highly secreting BDNF were established. BDNF can promote NSCs to migrate and differentiate into neural cells in the normal host retinas.</p>


Subject(s)
Animals , Rats , Brain-Derived Neurotrophic Factor , Genetics , Metabolism , Cell Differentiation , Physiology , Cell Movement , Physiology , Cells, Cultured , Embryo, Mammalian , Cell Biology , Enzyme-Linked Immunosorbent Assay , Immunohistochemistry , Neurons , Cell Biology , Retina , Cell Biology , Metabolism , Stem Cell Transplantation
9.
Journal of Southern Medical University ; (12): 1335-1338, 2008.
Article in Chinese | WPRIM | ID: wpr-270147

ABSTRACT

<p><b>OBJECTIVE</b>To study the association of single nucleotide polymorphism at interleukin-10 gene 1082 locus with Helicobacter pylori (Hp) infection and the risk of gastric cancer in high prevalent region (Shaanxi Province)aand low prevalence region (Guangdong Province) in China.</p><p><b>METHODS</b>The genomic DNA was extracted from the peripheral blood of 104 healthy individuals, 104 gastric cancer patients from Guangdong Province, and from 102 healthy volunteers and 102 gastric cancer patients in Shaanxi Province, China. The single nucleotide polymorphism at IL-10 gene 1082 locus was analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The serum levels of anit-Hp IgG was measured by enzyme-linked immunosorbent assay.</p><p><b>RESULTS</b>The frequencies of IL-10-1082 A/A, A/G and G/G genotypes in the 412 subjects were 86.7%, 10.7% and 2.4%, respectively. In the low prevalence region, the number of carriers of IL-10-1082 G* was much greater in the cancer patients than in the healthy controls (14.4% vs 7.7%, Chi2=4.02, P<0.05, OR=1.01, 95% CI=1.08-3.10). The presence of IL-10-1082 G* was associated with significantly increased risk of gastric cancer following Hp infection (Chi(2)=5.36, P<0.05, OR=6.0, 95% CI=1.23-17.52). In the high prevalence region, the frequency of IL-10-1082 G* was slightly higher among the cancer patients than in the healthy controls, but this difference was not statistically significant (12.7% vs 16.6%, P>0.05).</p><p><b>CONCLUSION</b>The G* genotype of IL-10 gene 1082 locus may be associated with increased risk of gastric cancer in China.</p>


Subject(s)
Aged , Female , Humans , Male , Middle Aged , China , Epidemiology , Gene Frequency , Genotype , Interleukin-10 , Genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Risk Factors , Stomach Neoplasms , Epidemiology , Genetics
10.
Journal of Southern Medical University ; (12): 1434-1437, 2008.
Article in Chinese | WPRIM | ID: wpr-340801

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effects of cryoablation on different bronchi of normal pigs and provide experimental bases for the potential clinical application of this technique.</p><p><b>METHODS</b>Six normal pigs were divided into two groups and subjected to percutaneous cryoablation of the lung tissues. Three pigs were sacrificed on day 3 (group A) and another 3 on day 28 (group B) after the ablation, and the morphology and volume of the ablated areas and the pathological changes in different bronchi.</p><p><b>RESULTS</b>In group A, examination of the biopsy samples taken 3 days after the ablation revealed significantly greater maximal longitudinal (t=9.789, P=0.000) and transverse (t=3.253, P=0.023) diameters of the area of freezing damage than those observed immediately after the cryoablation. The diameters of the freezing damage area in group B were significantly smaller than those in group A (t=7.227, P=0.000; t=6.006, P=0.001). The freezing damages to the bronchi worsened with the reduction of the bronchial lumen; the damages to the major bronchi and the second-order bronchi were relatively slight, which also showed better recovery 28 days after the ablation.</p><p><b>CONCLUSION</b>CT-guided percutaneous cryoablation does not produce serious effects on the major bronchi and the second-order bronchus, and can be a minimally invasive therapy for lung tumors with good tolerance and safety.</p>


Subject(s)
Animals , Female , Male , Bronchi , General Surgery , Catheter Ablation , Methods , Cryosurgery , Methods , Lung , Diagnostic Imaging , General Surgery , Radiography, Interventional , Swine , Tomography, X-Ray Computed
11.
Journal of Zhejiang University. Science. B ; (12): 68-76, 2008.
Article in English | WPRIM | ID: wpr-277309

ABSTRACT

One approach to apply precision agriculture to optimize crop production and environmental quality is identifying management zones. In this paper, the variables of soil electrical conductivity (EC) data, cotton yield data and normalized difference vegetation index (NDVI) data in an about 15 ha field in a coastal saline land were selected as data resources, and their spatial variabilities were firstly analyzed and spatial distribution maps constructed with geostatistics technique. Then fuzzy c-means clustering algorithm was used to define management zones, fuzzy performance index (FPI) and normalized classification entropy (NCE) were used to determine the optimal cluster numbers. Finally one-way variance analysis was performed on 224 georeferenced soil and yield sampling points to assess how well the defined management zones reflected the soil properties and productivity level. The results reveal that the optimal number of management zones for the present study area was 3 and the defined management zones provided a better description of soil properties and yield variation. Statistical analyses indicate significant differences between the chemical properties of soil samples and crop yield in each management zone, and management zone 3 presented the highest nutrient level and potential crop productivity, whereas management zone 1 the lowest. Based on these findings, we conclude that fuzzy c-means clustering approach can be used to delineate management zones by using the given three variables in the coastal saline soils, and the defined management zones form an objective basis for targeting soil samples for nutrient analysis and development of site-specific application strategies.


Subject(s)
Cluster Analysis , Crops, Agricultural , Electric Conductivity , Soil
12.
Journal of Southern Medical University ; (12): 249-251, 2008.
Article in Chinese | WPRIM | ID: wpr-293405

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the dose-effect relationship of para-toluenesulfonamide (PTS) for treatment of hepatocellular carcinoma in rats.</p><p><b>METHODS</b>Forty-two SD rats bearing subcutaneous transplanted hepatocellular carcinoma were randomly divided into 6 groups (n=7), in which 0.02, 0.04, 0.06, 0.08, and 0.10 ml PTS and 0.10 ml normal saline were injected into the tumor, respectively. All of the rats were executed 24 h after the injection to observe the pathological changes in the tumor.</p><p><b>RESULTS</b>In rats with saline injection, the tumor tissues exhibited no obvious changes and the tumor cells retained the active proliferation. PTS, in contrast, caused coagulation necrosis of the tumor tissue, and the necrotic area expanded with the increase of the injected doses. The necrotic volume of the tumor was in roughly linear correlation with the dose of PTS injected, with the linear regression equation of V (cm(3))=-0.018+2.595Y (where V represents tumor necrosis volume, and Y the injected dose of PTS).</p><p><b>CONCLUSION</b>The dose-effect relationship of PTS is roughly linear, and the PTS dose for injection can be estimated according to the diameter of the tumor.</p>


Subject(s)
Animals , Rats , Antineoplastic Agents , Therapeutic Uses , Carcinoma, Hepatocellular , Drug Therapy , Pathology , Cell Proliferation , Dose-Response Relationship, Drug , Necrosis , Rats, Sprague-Dawley , Sulfonamides , Therapeutic Uses , Toluene , Therapeutic Uses
13.
Chinese Journal of Hematology ; (12): 110-112, 2008.
Article in Chinese | WPRIM | ID: wpr-262920

ABSTRACT

<p><b>OBJECTIVE</b>To compare the efficacy of high-dose cytarabine (HD-Ara-C) based chemotherapy for post-remission treatment in patients with t(8;21) (q22;q22) AML-M2 and those with normal karyotype AML-M2.</p><p><b>METHODS</b>AML-M2 patients were grouped into with (21 cases) or without (23 cases) t(8;21) (q22;q22) karyotype groups. After achieved remission by induction therapy, all patients received four cycles of HD-Ara-C (3 mg/m2 per 12 hours by three-hour infusion day 1 to day 3) with either mitoxantrone (7 mg m(-2) d(-1)) or aclarubicin (30 mg m(-2) d(-1)) or etoposide (70 mg m(-2) d(-1)) for 3d as post-remission treatment.</p><p><b>RESULTS</b>Relapse rate in the t(8;21) and the normal karyotype groups was 29% and 57% respectively (P<0.05); 3 year disease-free survival (DFS) rate was 71% and 43% respectively (P < 0.05). and 3 year over-all survival (OS) rate was 76% and 65% respectively (P >0.05).</p><p><b>CONCLUSION</b>Four cycles of high-dose cytarabine based combination chemotherapy as post-remission treatment improves long-term disease-free survival in patients with t(8;21) (q22;q22) AML-M2.</p>


Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Young Adult , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Chromosomes, Human, Pair 21 , Genetics , Chromosomes, Human, Pair 8 , Genetics , Cytarabine , Karyotyping , Leukemia, Myeloid, Acute , Drug Therapy , Genetics , Treatment Outcome
14.
Chinese Journal of Experimental and Clinical Virology ; (6): 102-104, 2007.
Article in Chinese | WPRIM | ID: wpr-305486

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship between the degree of week 24 HBV suppression and week 48 therapeutic response in entecavir-treated chronic hepatitis B patients in whom lamivudine treatment failed, so as to explore a useful predictor for efficacy of enticavir treatment.</p><p><b>METHODS</b>Thirty-three patients with chronic hepatitis B refractory to lamivudine were enrolled to receive treatment with entecavir 1.0 mg once daily. The patients were divided into 4 groups according to serum HBV DNA levels (copies/mL) at week 24: PCR-undetectable (less than 300 copies/ml); QL- less than 3 log10 copies/ml; 3 log10(-4) log10 copies/ml; greater than 4 log10 copies/mL, and the efficacy achieved at week 48 was evaluated.</p><p><b>RESULTS</b>At week 48, mean reductions of serum HBV DNA from baseline was 4.91 log10. HBV DNA became undetectable by PCR assay in 33.3 percent patients and ALT became normal in 75.8%. The lower the HBV DNA level achieved at week 24, the higher the proportion of patients in whom HBV DNA became undetectable by PCR and ALT normalization were acquired at week 48, and viral breakthrough at week 48 also decreased.</p><p><b>CONCLUSION</b>Undetectable HBV DNA by PCR at week 24 in entecavir-treated chronic hepatitis B patients who were refractory to lamivudine, suggests a better efficacy at week 48. The degree of week 24 suppression of HBV may be used as a predictor of long term outcome.</p>


Subject(s)
Adolescent , Adult , Aged , Humans , Male , Middle Aged , Young Adult , Antiviral Agents , Pharmacology , Therapeutic Uses , Drug Administration Schedule , Drug Evaluation , Guanine , Pharmacology , Hepatitis B virus , Genetics , Hepatitis B, Chronic , Drug Therapy , Virology , Lamivudine , Pharmacology , Therapeutic Uses , Treatment Failure
15.
Chinese Journal of Experimental and Clinical Virology ; (6): 256-257, 2007.
Article in Chinese | WPRIM | ID: wpr-248786

ABSTRACT

<p><b>OBJECTIVE</b>To probe the relationship between serum HBV DNA levels and serum hyaluronic acid (HA) levels in hepatitis B cirrhosis patients.</p><p><b>METHODS</b>Of 62 patients diagnosed with hepatitis B cirrhosis serum HBV DNA was determined by fluorescent quantitative PCR. Serum HA was determined by radioimmunity assay. The relationship between serum HBV DNA levels and serum HA levels was probed.</p><p><b>RESULTS</b>Serum HA of hepatitis B cirrhosis patients increased significantly and increased with the Child grade ascending (P less than 0.05). But serum HA levels had no significant correlation with serum HBV DNA levels (P greater than 0.05).</p><p><b>CONCLUSION</b>Serum HBV DNA levels had no significant correlation with liver cirrhosis grades and serum HA levels in hepatitis B cirrhosis patients.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , DNA, Viral , Blood , Genetics , Hepatitis B virus , Genetics , Hepatitis B, Chronic , Hyaluronic Acid , Blood , Liver Cirrhosis , Blood , Polymerase Chain Reaction , Methods , Radioimmunoassay , Methods
16.
Chinese Journal of Medical Genetics ; (6): 614-617, 2006.
Article in Chinese | WPRIM | ID: wpr-285067

ABSTRACT

<p><b>OBJECTIVE</b>To investigate gene mutations of a consanguineous family with two oculocutaneous albinism (OCA) patients.</p><p><b>METHODS</b>Genomic DNA was prepared from peripheral leukocytes. All of the exons and flanking introns of P gene and TYR gene were PCR-direct-sequenced. Hha I restriction fragment length polymorphism in codon 787 of the P gene was studied in the family and 102 unrelated normal Chinese individuals.</p><p><b>RESULTS</b>Although no mutations were found in TYR gene, a missense mutation A787T was found in P gene. Two patients of the family were both homozygous for A787T. Their parents and brother were heterozygous for the mutation. The mutation was not observed among 102 normally pigmented subjects.</p><p><b>CONCLUSION</b>The A787T mutation is not a common polymorphism among normal Chinese and it seems most likely to be a pathological OCA2 mutation. This is the first report on the study of gene diagnosis in Chinese OCA2 patients.</p>


Subject(s)
Adult , Female , Humans , Male , Albinism, Oculocutaneous , Ethnology , Genetics , Amino Acid Sequence , Asian People , Genetics , Base Sequence , China , Codon , Consanguinity , DNA Mutational Analysis , Exons , Homozygote , Introns , Membrane Transport Proteins , Genetics , Molecular Sequence Data , Monophenol Monooxygenase , Genetics , Mutation, Missense , Pedigree , Sequence Homology, Nucleic Acid
17.
Chinese Journal of Medical Genetics ; (6): 280-282, 2006.
Article in Chinese | WPRIM | ID: wpr-263796

ABSTRACT

<p><b>OBJECTIVE</b>Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).</p><p><b>METHODS</b>To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.</p><p><b>RESULTS</b>The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4+ 3A>T or G253E respectively, but their fetus was heterozygous only with IVS4+3A>T but without G253E, and so was a carrier as his father.</p><p><b>CONCLUSION</b>In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.</p>


Subject(s)
Child, Preschool , Female , Humans , Male , Pregnancy , Albinism, Oculocutaneous , Diagnosis , Genetics , Family Health , Monophenol Monooxygenase , Genetics , Mutation , Pedigree , Polymerase Chain Reaction , Prenatal Diagnosis , Methods
18.
Chinese Journal of Applied Physiology ; (6): 194-196, 2004.
Article in Chinese | WPRIM | ID: wpr-330147

ABSTRACT

<p><b>AIM</b>To explore the expression of ER and PR mRNAs in endometrium with endometriosis.</p><p><b>METHODS</b>The rat model of endometriosis was established, and the expression of ER, PR mRNAs in the endometrium was examined by reverse transcription-polymerase chain reaction (RT-PCR).</p><p><b>RESULTS</b>The expression of ER and PR mRNAs in ectopic endometrium was significantly lower than that in eutopic and normal endometrium (P < 0.01). But no difference was observed between eutopic and normal endometrium (P > 0.05). Ratio of ER/PR mRNA in ectopic endometrium was larger than that in eutopic and in normal endometrium (P < 0.01).</p><p><b>CONCLUSION</b>The result illuminates that the increased ER plays a vital role in the onset of endometriosis.</p>


Subject(s)
Animals , Female , Rats , Endometriosis , Metabolism , Endometrium , Metabolism , RNA, Messenger , Genetics , Rats, Sprague-Dawley , Receptors, Estrogen , Genetics , Metabolism , Receptors, Progesterone , Genetics , Metabolism
19.
Journal of Experimental Hematology ; (6): 54-60, 2003.
Article in Chinese | WPRIM | ID: wpr-355716

ABSTRACT

There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used. The results showed that among 356 patients, 295 patients with --SEA/alphaalpha (82.87%), 1 patient with alphaalpha/alpha-alpha(3.7) (0.28%), 3 patients with alphaalpha/alpha-alpha(4.2) (0.84%), 3 patients with alphaalpha/alpha(CS)alpha (0.84%), 1 patient with alphaalpha/alphaalpha(QS) (0.28%) and 2 patients with alphaalpha/alpha(Westmead) alpha (0.56%) were found. The homozygote with -alpha(4.2) or -alpha(3.7) was not found. In 78 patients with HbH, 29 patients with --SEA/alphaalpha(-3.7) (37.2%), 20 patients with --SEA/alphaalpha(-4.2) (25.6%), 19 patients with --SEA/alphaalpha(CS) (24.3%), 2 patients with --SEA/alphaalpha(QS) (2.6%) were detected, and other remaiming 8 patients were needed to be defined. Among the non-defined 8 patients, the synonymous mutation with C-->G transversion (GCC-GCG) at codon 65 in the exon 2 of alpha 2-globin gene was detected in 2 unrelated HbH patients came from Guangxi province. Whether it correlated with the phenotype of HbH disease or it is only a single nucleotide polymorphism site (SNPs), should be confirmed in the future. In addition, a set of gene diagnosis methods based on PCR to screen deletion and non-deletion genotypes of alpha-thalassemia in Chinese was improved. A new method, 4P-ASPCR, to detect Hb CS and Hb QS was also developed. The method was verified to be more accurate, time-saving and economic. In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this research probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.


Subject(s)
Humans , Base Sequence , China , DNA , Chemistry , Genetics , DNA Mutational Analysis , Gene Deletion , Gene Frequency , Genotype , Globins , Genetics , Hemoglobin H , Genetics , Hemoglobins , Genetics , Hemoglobins, Abnormal , Genetics , Molecular Sequence Data , Mutation , Polymorphism, Single-Stranded Conformational , alpha-Thalassemia , Genetics , Pathology
20.
Chinese Medical Equipment Journal ; (6)2003.
Article in Chinese | WPRIM | ID: wpr-684610

ABSTRACT

This paper primarily discusses such information of microwave-induced thermoacoustic tomography a new medical functional imaging method as its principle hardware structure reconstruction algorithm and imaging results in which research and advance of Wang LV's research team are introduced. The application perspective of microwave-induced thermoacoustic tomography is also included.

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