Ochre suppressor transfer RNA restored dystrophin expression in mdx mice.
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Biomedical subjects
K Li
Publications and source records attributed to K Li.
A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription.
We studied a 29-year-old Japanese male patient with factor XI deficiency; we also studied his parents and one sibling. Factor XI coagulation activity and antigen levels were extremely low (less than 1% of normal level) in both the patient and his brother, and they were half the normal levels in both parents. Sequence analysis of all 15 exons and the exon-intron boundaries of the factor XI gene amplified by polymerase chain reaction revealed a nonsense mutation in exon 8 (Gln263-->Stop). Although the parents are first cousins, the mutation was unexpectedly heterozygous in all the family members except the father, who showed the homozygous wild type, indicating that this mutation alone was not sufficient to account for the factor XI deficiency. To explore the genetic abnormality in the father, we analyzed allele-specific expression of the platelet factor XI gene using reverse transcription-polymerase chain reaction and subsequent restriction enzyme digestion. As a result, gene expression from only one allele was severely impaired in the father. This result implies an additional mutation in some regulatory element of the factor XI gene from paternal inheritance. We concluded that the factor XI deficiency of the patient was caused by compound heterozygous genetic abnormalities.
Adult↗
[The common C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with neural tube defects and preeclampsia].
OBJECTIVE: To assess whether methylenetetrahydrofolate reductase(MTHFR) gene C677T polymorphism is associated with neural tube defects and preeclampsia. METHODS: Twenty- four mothers who had given birth to normal children, 27 mothers who had given birth to NTDs children, 120 normal women, and 57 women who had suffered from preeclampsia were genotyped for C677T polymorphism by using PCR/RFLP method. RESULTS: (1) VV genotype frequency in the normal mothers group it was 0.13, while in the NTDs mothers group it was 0.33; mothers with VV genotype were at 3 times increased risk to have a NTDs child, compared with the normal mothers. (2) In the normal women group VV genotype frequency was 0.15, while in the preeclampsia women group it was 0.31; women with VV genotype were at 2.5 times increased risk to have preeclampsia, compared with the normal women. CONCLUSION: The authors believe that MTHFR VV genotype is associated with the development of NTDs and preeclampsia.
Female↗
Oesophageal cancer and occupational exposure to rubber: a nested case-control study.
Findings for cancer of the oesophagus in the rubber industry are not consistent between studies, and derive from too few studies. Few studies were carried out to examine risks of oesophageal cancer in different departments and the confounding by non-occupational risk factors such as smoking, drinking, and economic status. In this paper these questions have been explored. Following a nested case-control study, the data were used of nine oesophageal cancer deaths during 1973-1995 and 36 controls matched for sex and age from the same cohort of a rubber plant workers. Oesophageal cancer risks for exposure to rubber were assessed, unadjusted and adjusted for non-occupational factors by conditional logistic regression. In grouped analysis, odds ratios (ORs) for oesophageal cancer were found to be 2.67 (95%CI=0.42,17.0) for milling, etc. workers and 1. 40 (95%CI=0.24,7.97) for building workers, who worked for one or more years. No excess risks were found in the remaining three departments. The models for continuous exposure variables indicated that a one-unit year change in the milling, etc. department was associated with a 4% increment in the OR. When adjusted for serum cholesterol level, the 6% increase (OR) was observed. Significant associations between risk for oesophageal cancer and specific exposures or processes within the rubber plant were not found. The slight excess risk for oesophageal cancer in the rubber plant may be related to exposure to dusts and solvents.
Adult↗
[Changes of hepatic energy metabolism following partial hepatopetal blood occlusion].
OBJECTIVE: To evaluate the changes of hepatic energy metabolism by temporary occlusion of partial hepatopetal blood. METHODS: The animal mode of partial hepatopetal blood occlusion (PBO) was established without portal stasis. The hepatic energy metabolism parameters including adenosine triphosphate, respiratory control ratio, P/O ratio, and arterial ketone bodies ratio were studied following 30 min ischemia or 1, 6, and 24 h of reperfusion. The total hepatopetal blood occlusion (TBO) and sham groups served as control. RESULTS: The parameters of hepatic motochondrial function reflecting hepatic damage to ischemia-reperfusion showed different in PBO comparing with TBO group. The functional lesion was restored progressively in PBO-30 min group, but it was maintained low level in TBO-30 min group. CONCLUSION: The results suggest that it is beneficial to restoration of the hepatic energy metabolism in the ischemia-reperfusion injury by partial hepatopetal blood occlusion.
Adenosine Triphosphate↗
[The design and comparative biomechanical study of TDP&CS].
A new internal fixation device(TDP&CS) for subtrochanteric fracture of the femurs was designd and compared with Gamma nail and Jewwet nail biomechanically. A model with 5 mm bone deficit presenting as fracture fixation (mFF) and a model with nail holes presenting as fracture healed and nails removed(mFHNR) were designed. Four-point anti-bent test, anti-axial compression test and anti-torsion test were continually performed on mFF, and four-point anti-bent and anti-torsion tests were performed on mFHNR. The results showed that in mFF group, TDP&CS was stronger than Jewwet nail(P < 0.05) in all the three tests, but it was not statistically different from Gamma nail. In mFHNR group, TDP&CS had better features than Gamma nail and Jewett nail in anti-bent and anti-torsion tests (P < 0.05). These data indicate that TDP&CS is a good internal fixation device for subtrochanteric fracture of the femurs, it is as good as Gamma nail and better than Jewett nail in fixing the fracture, and its nail holes could do less injury to the bone as compared with those of the Gamma nail and Jewett nail.
Adult↗
[Partial nucleotide sequences of hepatitis E viruses isolated from patients in 14 cities of China].
OBJECTIVE: To investigate the genotypes of hepatitis E viruses isolated in China. METHODS: The partial genome of open reading frame 2 (nt6461-6860, nt5994-6294) of 45 HEV isolated from patients in 14 cities of China was amplified and sequenced using polymerase chain reaction and direct sequencing. RESULTS: 41 of 45 isolates (91%) shared the same genotype with HEV Burma strain (B), with nucleotide identities higher than 98% with the representative HEV Chinese strain. Only 4 HEV isolates were significantly divergent from the 3 prototype strains of HEV, with nucleotide identities of 77%-80% with HEV Burmese/Chinese strain, 74%-76% with Mexico strain and 74%-77% with the newly discovered HEV US/Swine strain, respectively. Phylogenetic analysis suggested that these 4 isolates represented 2 different subtypes belonging to a novel genotype of HEV, which was significantly divergent from the prototype Mexican, Burmese and US/Swine isolates. CONCLUSION: Among patients with hepatitis E in China, most are infected with the Chinese prototype HEV, and only a small part with the new genotype HEV.
China↗
[Study on the relationship between methylenetetrahydrofolate reductase gene polymorphism and plasma homocysteine level in pregnancy induced hypertension patients].
OBJECTIVE: To investigate the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and plasma homocysteine level in pregnancy induced hypertension (PIH) patients. METHODS: The MTHFR genotypes were determined in 62 PIH patients and 90 normal pregnant women by the restriction fragment length polymorphism method, plasma homocysteine level was measured by high performance liquid chromatography and fluorescence detection. RESULTS: The frequencies of T677 allele (0.52) and the T677/T677 genotype (0.27) in the PIH group were markedly higher than those in the control group (0.31 and 0.13, P < 0.05, P < 0.01 respectively), mean plasma homocysteine level in the PIH group (9.62 +/- 2.11) mumol/L was also significantly higher than that in the control group (6.85 +/- 1.98) mumol/L (P < 0.01). CONCLUSION: The MTHFR gene T677 variant is the genetic high risk factor for PIH. It can induce the hyperhomocysteinemia, potentially contributing to the pathogeny of PIH.
Adult↗
[Etiological study on patients with seronegative viral hepatitis].
OBJECTIVE: To investigate the etiology of hepatitis patients who were seronegative for viral hepatitis A through E. METHODS: By using PCR, HBV DNA, HCV RNA, HEV RNA and HGV RNA were detected in sera of 104 patients with seronegative viral hepatitis. The partial nucleotide sequences of 2 HCV and 17 HEV isolates were analysed by direct sequencing. RESULTS: Among the 104 patients with seronegative viral hepatitis, the positive rates of HBV DNA, HCV RNA, HEV RNA and HGV RNA were 29.8%, 3.8%, 22.1% and 7.7%, respectively, with only 38 cases (36.6%) negative for the genome of all known hepatitis viruses. CONCLUSION: In addition to serological tests, the polymerase chain reaction of all known hepatitis viruses should be used to make the diagnosis of non-A - E hepatitis.
Base Sequence↗
[The effects of the expression of VEGF and KDR on the angiogenesis, growth and metastasis of hepatocellular carcinoma].
OBJECTIVE: To investigate the effects of VEGF (vascular endothelial growth factor) and KDR (kinase insert domain containing receptor) on the angiogenesis, growth and metastasis of hepatocellular carcinoma. METHODS: With the methods of immunohistochemistry and in situ hybridization, specimens from 45 HCC (hepatocellular carcinoma) patients, 21 cirrhotics, 8 normal livers patients were stained. Image analysis was followed, and the relationship between VEGF, KDR expression and the pathological characteristics of HCC was studied. RESULTS: VEGF was highly expressed in HCC and was correlated with the angiogenesis of HCC. The expression rate and the intensity of VEGF were correlated with the metastasis and capsule formation of HCC. KDR was expressed not only in vascular endothelial cells, but also in some HCC cells. CONCLUSIONS: VEGF may play an important role in the angiogenesis, metastasis, and capsule formation. The KDR expression in HCC cells may be a behavior of autocrine.
Carcinoma, Hepatocellular↗
[Establishment and identification of B cell lines with PNH phenotype].
OBJECTIVE: To establish B cell lines from patients with paroxysmal nocturnal haemoglobinuria (PNH) and normal controls. METHODS: B lymphoid cells prepared from PNH patients and normal controls were infected with EB virus. Phenotype of the immortal cells was analyzed by flow cytometry. The immunomagnetic beads were used to select CD(55)(-) and CD(59)(-) B lymphoid cells, which were cloned by limiting dilution. The clonality of the cloned cells was confirmed by testing the pattern of Ig rearrangements using polymerase chain reaction (PCR). RESULTS: From 2 PNH patients and 2 normal controls, CD(55)(-) and CD(59)(-) B lymphoblastoid cell lines were established which had PNH phenotype and normal phenotype, respectively. CONCLUSION: B lymphoid cell lines from PNH patients can be obtained by EB virus infection.
B-Lymphocytes↗
[Study of the expression and function of c-kit receptor on the bone marrow mononuclear cells of the patients with myelodysplastic syndromes].
OBJECTIVE: To determine the expression and function of c-kit receptor on bone marrow mononuclear cells (BMMNC) of the patients with myelodysplastic syndromes. METHODS: c-kit protein (CD(117)) was detected by direct immunofluorescence assay, c-kit mRNA by reverse transcriptive polymerase chain reaction (RT-PCR) and the function of c-kit receptor by cell culture. RESULTS: c-kit protein expression in MDS was significantly higher than that in control [(8.58 +/- 5.28)% vs (3.04 +/- 1.49)%, P < 0.05]. c-kit protein expression in RA patients was significantly lower than that in RAEB/RAEB-t patients [(5.12 +/- 2.13)% vs (10.01 +/- 5.07)%, P < 0.05]. The rate of c-kit protein expression was (32.43 +/- 18.16)% in AML cases transformed from MDS (t-AML). c-kit mRNA expression in MDS was correlated with c-kit protein expression. Addition of interleukin-3 (IL-3), erythropoietin (Epo) and stem cell factor (SCF) to the semi-solid culture of BMMNC showed significant stimulating effects on CFU-GM and BFU-E formation in normal controls, but did not in MDS patients. CONCLUSION: The protein and mRNA expressions of c-kit receptor on BMMNC in MDS are higher than those in normal control, and the function of this receptor in MDS is abnormal.
Adolescent↗
[Study on clinical and laboratory features of preleukemia patients].
OBJECTIVE: To explore prospective diagnostic criteria for preleukemia. METHODS: A case control study of the discrepancies of clinical and laboratory features between patients with preleukemia and those with chronic aplastic anemia (CAA) or atypical paroxysmal nocturnal hemoglubinuria (a-PNH). RESULTS: There were eight variables of significance: (1) lymphocytoid micromegakaryocytes in marrow; (2) immature granulocytes in peripheral blood; (3) >or= 2% myeloblasts in marrow; (4) positive periodic acid schiff (PAS) staining of nucleated erythrocytes; (5) myeloid differentiation index >or= 1.8; (6) clonal karyotypic abnormalities; (7) negative sister chromatid differentiation; (8) > 4.0 cluster/colony ratio of granulocyte-macrophage colony-forming units (CFU-GM). The following criteria was assigned: A: To meet (1) and at least two of the other seven variables; B: To meet at least four of the eight variables. All of the patients with preleukemia met A or B and none of the patients with CAA or a-PNH did. CONCLUSION: Preleukemia is different from CAA or a-PNH. It has its own clinical and laboratory features, which may be useful for prospective diagnosis.
Adolescent↗
[Re-evaluation of proteinuria and qualitive methods for diagnosis of diabetic nephropathy].
This study was aimed to re-evaluate the proteinuria quantitative and qualitative methods for diagnosis of diabetic nephropathy (DN). 136 cases were divided into two groups of proteinuria negativeness and postiveness by the results of urine routine examination. The clinical and biochemical indices and the frequencies of other diabetic complications of the two groups were compared. The results showed that the blood glucose and glycated Hb in the two groups were increased, especially in the proteinuria negative group (P < 0.01 and 0.05, respectively). There was a high prevalence of hypertension and other diabetic complications in the two groups, and it was higher in the positive group than in the negative group (P < 0.05 and 0.01, respectively). The frequencies of hyperlipoproteinemia in the two groups were over 40%, but no significant defference was observed between them (P > 0.05). There was correlation between hypertension and proteinuria (P < 0.01) but no correlation between diabetic retinopathy and proteinuria. The prevalence of azotemia in the proteinuria negative group was 17.07%. These suggest that the amount of proteinuria can not completely reflect the duration and severity of DN. Negative proteinuria in routine examination cannot rule out DN. For diagnosis of DN, it is necessary to think about all data on blood glucose, blood lipid, blood pressure and the change in fundus oculi.
Adolescent↗
[The investigation of color selection of 4340 cases of ceramic restorations].
OBJECTIVE: To find color coordinates of Vita color tabs compare with Chinese natural teeth and summarize the skills of color matching. METHODS: We studied 15,836 ceramic restorations of 4340 cases from 138 clinics in 18 provinces throughout China and compared their shade with that of the adjacent natural teeth using the Vita shade guide which has 16 standard tooth colors. Statistical analyses was made by comparing aptness of Chinese teeth with Vita shade. RESULTS: We found that 64.47% of the restorations were matched by Vita A, 15.85% were matched by Vita B, and 19.68% were matched by Vita C and D. The arrangement of Vita 16 colors by using frequency was A2, A3, B2, A1, A3.5, C1, D2, D3, C2, B3, C3, B1, A4, D4, B4 and C4. The first five color matching tabs used most frequently covered 73.85% of the total, while the last four colors only covered 3.07%. It seemed that Vita color tabs could not match well with Chinese teeth. We found that the shade of natural teeth was closely related to sex. But there were no significant difference between tooth color and different areas. CONCLUSION: Tooth color is closely related to sex. The color of ceramic crowns in men are darker than that in women. We have evidences that there are clear differences in color distribution between Chinese natural teeth and Vita shade guide.
China↗
[Determination of berberine in decocted liquid from shenshu granules with water by reversed-phase liquid chromatography].
A reversed-phase liquid chromatographic method has been developed and validated for the analysis of berberine in decocted liquid from Shenshu granules with water. The drug was extracted with supersonic wave and then measured by HPLC using a Hypersil C18 column and an acetonitrile -0.04 mol/L H3PO4(42:58, V/V) as mobile phase. Berberin was quantified by ultraviolet absorbance at 349 nm. The method proved to be linear in the range of 1.2-19.2 mg/L. The lower limit of detection of berberin was 0.6 mg/L. Intra-day and inter-day coefficients of variation of assay for berberin were 0.6%-3.5%(n = 5) and 5.3%-6.5% (n = 5), respectively. The recoveries of the method were 89.1%-91.4%.
Berberine↗
[Study on the separation of proteins in human serum by high performance capillary zone electrophoresis].
A high performance capillary zone electrophoretic method has been developed for the separation of proteins in human serum. Sera were diluted with a buffer (0.05 mol/L boric acid, pH 8.80), and then introduced hydrodynamically into a 37 cm (32 cm to detector) x 50 microns i.d. fused-silica capillary, electrophoresed for 12 min using a boric buffer solution (0.10 mol/L, pH 9.35; containing 4 g/L of polyethylene glycol 8000), and detected at the wavelength of 200 nm. The method is simple, rapid and repeatable.
Alpha-Globulins↗
[Study of xixin, duzhong and mixture to the antioxidant system of D-galactose-induced senile mice].
D-galactose induced mice aging model were used in this experiment. This study investigated the effect of the herb on the activity of superoxide dismutase(SOD), glutahione peroxidase (GSH-Px) and NOS, in order to know the damages degree of body by free radical and determine the changes of above index after giving Duzhong, Xixin and their Mixture 15, 30 and 45 days, at the same time, the mechanism of their effect on antiaging was probed. The results were as follows: The activity of SOD, GSH-Px and NOS was increasing before middel age and decreasing after middelage(P < 0.01); Xixin and Duzhong could enhance the activity of SOD, GSH-Px and NOS; The time of effect for mixture and Duzhong to above index was short than Xixin's. The time of Mixture and Duzhong was 15 days, and Xixin was 30 days.
Aging↗