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Biomedical subjects

Lin He

Publications and source records attributed to Lin He.

At least 127 records · Page 7Linked to original sources

[Forty-three tracheal stricture with Ni-Ti shape memory alloy stent].

OBJECTIVE: To evaluate the application of Ni-Ti shape memory alloy stent for treating tracheal stricture, including its indications and complications. METHODS: Forty-three patients clinical data were analyzed, among them, 15 suffered from tumor; 7 trauma; 4 granulation; 1 Wegener's granuloma, 2 rhinoscleroma, 1 without clear diagnosis; 7 were relapsing polychondritis; 1 were respiratory amyloidosis; 4 were tracheobronchial tuberculosis, 5 were tracheobronchomalacia. The stricture degree: Level I: 15 patients, Level II:24 patients, Level III:4 patients. The location of stricture in 5 patients extended to the subglottis area. All patients had tracheal stricture and accepted the treatment with Ni-Ti shape memory alloy stent. RESULTS: Forty-two patients breathed freely after the operation, 1 patient died after surgery. The tracheostoma in 18 patients was closed 34 days after operation. Among the remaining 8 patients with tracheostoma:3 patients left hospital with tracheal cannula; 1 patient died,2 patients were found stent shifted and no evident breath improving; 2 patients were found granulation and had secondary operation with laser. CONCLUSION: Ni-Ti shape memory alloy stent can expand the tracheal stricture quickly and thus improve the breath effectively, which is minimally invasive and simple. It can be used as a method in the treatment of tracheal stricture.

Adult↗

[Advances in molecular genetics of schizophrenia].

Schizophrenia (MIM 181500) is a complex disorder affecting approximately 1% of the population worldwide. Epidemiologic evidences, together with recent linkage and association studies, have clearly demonstrated the high heritability of schizophrenia (up to 80%). Uncovering the genetic mechanism of schizophrenia has became one of the greatest challenges for both psychiatry and genetics. In recent years, remarkable advances in the genetics of this disorder has been achieved with the rapid growth of human genome information and experiment technologies. Several candidate genes within some of the best-supported linkage regions have been reported and, more importantly, replicated. Moreover, these genes present a significant connection in the signaling pathways implicated in the development of schizophrenia, especially NMDA receptor-mediated glutamate transmission. In this review, we summarize the recent advances in the genetics of schizophrenia, focusing particularly on linkage disequilibrium analysis and the latest understanding of the neurobiology of the disorder.

Acyltransferases↗

[Determination of isosorbide-5-nitrate in human plasma by reversed-phase high performance liquid chromatography].

The method was established to determine the level of isosorbide-5-nitrate in human plasma by reversed-phase high performance liquid chromatography (RP-HPLC). The sample preparation was carried by alkalizing the plasma sample followed by extraction with dichloromethane. The HPLC analysis was performed under the conditions as follows: a mixture of an aqueous buffer (pH adjusted to 7.8 by 0. 03 mol/L ammonia water) and acetonitrile (80: 20, v/v) as mobile phase, paracetamol as the internal standard, and the detection at 230 nm. The linear range was 20 - 1 000 microg/L using the ratio of peak areas; the detection limit was 12 microg/L; the average recovery was (97.11 +/- 2.45)% - (104.34 +/- 2.17)%, the intra-day relative standard deviations (RSDs) were less than 2.52%, and inter-day RSDs were less than 5.21%.

Chromatography, High Pressure Liquid↗

[Association study between NPY and YWHAH gene polymorphisms and schizophrenia].

A case-control study was carried out on a sample of 583 cases vs. 372 controls in the Chinese Han population, investigating several published polymorphisms in the YWHAH and NPY genes, which reported to be associated with schizophrenia. The polymorphism -134 (GCCTGCA)2-4, in the YWHAH was not analyzed for the failure of amplification, and the polymorphism T1128C in the NPY is not existent in the samples. The analysis was then emphasized on the variants -485C > T(NPY) and G753A(YWHAH). However, no significant differences of allele frequencies (with P values of 0.696 and 0.743, OR values of 1.041 and 0.962 respectively) or genotype frequencies (with P value of 0.45 and 0.75, chi2 = 1.51 and 0.58 respectively) among the matched groups were found. No sex-dependent effect was found either. Also,the analysis of the relative risk between the genotypes of the two genes indicates that the two genes could not cooperate with each other to add the risk of disease (P > 0.05). The results suggest that the polymorphisms - 485C > T (NPY) and G753A (YWHAH) are unlikely to be linked with genetic susceptibility to schizophrenia in the Chinese Han population.

14-3-3 Proteins↗

No association between the serotonin 1B receptor gene and schizophrenia in a case-control and family-based association study.

Previous studies have demonstrated that polymorphisms in the putative promoter region of the human serotonin receptor 1B (HTR1B) gene affect gene expression [H.F. Sun, Y.T. Chang, C.S. Fann, C.J. Chang, Y.H. Chen, Y.P. Hsu, W.Y. Yu, A.T. Cheng, Association study of novel human serotonin 5-HT(1B) polymorphisms with alcohol dependence in Taiwanese Han, Biol. Psychiatry 51 (2002) 896-901; J. Duan, A.R. Sanders, J.E. Molen, L. Martinolich, B.J. Mowry, D.F. Levinson, R.R. Crowe, J.M. Silverman, P.V. Gejman, Polymorphisms in the 5'-untranslated region of the human serotonin receptor 1B (HTR1B) gene affect gene expression, Mol. Psychiatry 8 (2003) 901-910]. And the silent mutation G861C allele has been reported to be associated with several psychiatric disorders. Thus, we performed a case-control association study (456 cases and 557 controls) of the five variants in HTR1B gene (T-261G, -182INS/DEL-181, A-161T, C129T and G861C) with schizophrenia. The results showed that neither the allelic distribution nor the major haplotype distribution (except for a rare haplotype) of five SNPs in patients was significantly different from that in controls. A further family-based association study (229 family trios) of G861C allele suggested that HTR1B was not a susceptible gene with schizophrenia in our sample. In conclusion, these data do not support the idea that HTR1B gene plays a major role in the etiopathogenesis of schizophrenia in Chinese Han population.

Adult↗

A family-based association study of PLP1 and schizophrenia.

Recently, proteolipid protein 1 (PLP1) has been identified as downregulated in schizophrenia by quantitative PCR and other technologies. In this work we attempted to investigate the role of PLP1 in the etiology of schizophrenia using a family based association study in 487 Chinese Han family trios. The TDT for allelic association demonstrated that, in male, a weak association was detected in SNP rs475827 with p=0.0294, suggesting that the genetic polymorphisms within PLP1 in male are likely to confer an increased susceptibility to schizophrenia in the Chinese population.

Adult↗

Response to chlorpromazine treatment may be associated with polymorphisms of the DRD2 gene in Chinese schizophrenic patients.

Previous studies have demonstrated that the -141C Ins/Del and TaqI A polymorphisms in the DRD2 gene affect the density of the dopamine D2 receptor. The present study examines the correlation between these two polymorphisms and the therapeutic response to chlorpromazine, a typical antipsychotic drug, in 135 inpatients with schizophrenia. Clinical symptoms were evaluated using the Brief Psychiatry Rating Scale (BPRS) before and after 8 weeks of treatment with 300-600 mg/day of chlorpromazine. Our results show that genotyping -141C Ins/Del may help to predict the efficacy of chlorpromazine treatment (P=0.01) due to the fact that patients with no Del allele showed greater improvement than those with Del allele on the overall BPRS (P=0.03), and that, therefore, the potential for therapy in patients with schizophrenia is related to the -141C Ins/Del polymorphism in the DRD2 gene. However, no such relationship was found for the TaqI A polymorphism.

Adult↗

Effect of integrated traditional Chinese and Western medicine on SARS: a review of clinical evidence.

AIM: To assess the possible effect of integrated traditional Chinese and Western medicine on severe acute respiratory syndromes. METHODS: The current available randomized controlled trials of integrated traditional Chinese and Western medicine on SARS were identified through systematically searching literature in any languages or any types of publications. Additional studies of gray literature were also collected. The quality of studies was evaluated by two investigators independently based largely on the quality criteria specified CONSORT. Statistical analysis of the results was performed using RevMan 4.2.0 software developed by the Cochrane Collaboration. RESULTS: Six studies (n = 366) fulfilling the inclusion criteria were found, of which the quality of one study was graded as B, the remaining five were graded as C. Two studies were performed with meta-analysis, the other four studies existed some heterogeneity for which meta-analysis could not be performed, a significant effect on lung infiltrate absorption was found in the treatment groups of these two studies (RR 6.68, 95% CI (2.93, 15.24), P<0.01), there was no significant differences between the mortality (RR 0.86, 95% CI (0.22, 3.29), P = 0.82) and the average dosage of corticosteroid (WMD -39.65, 95% CI (-116.84, 37.54), P = 0.31). The other three studies also showed significant differences in infiltrate absorption, including national drug No. 2. 3. 4 in combination with Western medicine (RR 5.45, 95% CI (1.54, 19.26)), compound formulas NO. 1 combined with Western medicine (WMD 0.24, 95% CI (0.02, 0.46)), compound formulas combined with Western medicine (RR 8.06, 95% CI (0.40, 163.21)). Kangfeidian No.4 in combination with Western medicine had no significant effect on symptom improvement such as loss of dyspnea and cough (RR 1.50, 95%CI (0.41, 5.43)) and (RR 1.29, 95%CI (0.30, 5.43)). CONCLUSION: Integrated traditional Chinese and Western medicines has some positive effects on lung infiltrate absorption in SARS patients, and is recommended as an adjunct treatment for SARS. However, its effect on SARS requires further careful study due to limited available randomized control trials.

Antiviral Agents↗

Relationship between suicidal behavior of psychotic inpatients and serotonin transporter gene in Han Chinese.

Strong evidence indicates that central serotoninergic system dysfunction is associated with suicidal behavior. The relationship between the serotonin transporter protein (5-HTT) gene of psychotic patients in Han Chinese with suicidal behavior was studied since the 5-HTT plays an important role in serotoninergic transmission. Two hundred and seventy-two psychotic inpatients with suicidal behavior (suicide group) and 275 psychotic inpatients without suicidal behavior (patient control group) were recruited from six mental health facilities in Shanghai, China. Another 628 healthy adults (healthy control group) without suicidal behavior and mental disorder history were enrolled from Shanghai, China. All subjects were Han Chinese. The genotypes and the alleles of 5-HTT genes of the three groups were examined by PCR amplification. Neither the intron 2 variable number tandem repeat (VNTR) polymorphism and 5-HTTLPR (5-HTT gene-linked polymorphic region), nor the haplotype frequencies of this gene have significant differences between the suicide group and the two control groups. However, there was a significant difference in 5-HTTLPR polymorphism between inpatients with a first episode of suicidal behavior and those with recurrent suicidal behavior. Except for the possible heterogeneity between inpatients with a first episode of suicidal behavior and those with more than one, the 5-HTT gene was unlikely to be associated with suicidal behavior of psychotic patient in Han Chinese.

Adult↗

An association between polymorphisms of the interleukin-10 gene promoter and schizophrenia in the Chinese population.

Immunological abnormalities have been found to be associated with schizophrenia for decades. Cytokines are key proteins involved in the immune system activation. Interleukin-10 (IL-10), an important immunoregulatory cytokine, is located on chromosome 1q31-32, a region previously reported to be linked to schizophrenia in genetic studies. Thus, a study was carried out on the association between schizophrenia and three single nucleotide polymorphisms in the promoter region of IL-10 gene. Totally, 341 patients and 334 controls of Chinese descent were analyzed. Statistically significant differences were observed in both allelic and genotypic frequencies of the -592A/C polymorphism (Allele, chi(2)=4.43, df=1, P=0.032, odds ratio (OR)=1.26, 95% CI 1.02-1.56; Genotype, chi(2)=6.18, df=2, P=0.044) while the other two polymorphisms did not show such differences. The observed haplotype distributions revealed a significant association with schizophrenia (P=0.0008). These data suggest that the IL-10 gene may confer susceptibility to the development of schizophrenia in the Chinese population.

Adult↗

Association of DAAO with schizophrenia in the Chinese population.

Recently, the gene called DAAO was reported to be associated with schizophrenia in the French Canadian populations. Here, we report a result obtained in the study of our large collection of 547 schizophrenia cases and 536 controls in the Chinese population. Six single-nucleotide polymorphisms (SNPs) were genotyped at and around the DAAO locus, covering a 10-kb region entirely encompassing the complementary DNA sequences of DAAO. We found statistically significant differences in allele distributions on one marker: SNP rs3741775 (P = 0.0000001). In the haplotype analysis based on the information of linkage-disequilibrium block across this gene locus, we demonstrated a highly significant association between schizophrenia and a DAAO haplotype (P = 2.0173 x 10(-21)), which therefore provides an independent statistical support for association of the DAAO gene with schizophrenia and indicates that the DAAO gene may play a significant role in the etiology of schizophrenia in the Han Chinese.

Alleles↗

Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8.

Genetic variants in the 22q11 gene ZDHHC8, which encodes a putative transmembrane palmitoyltransferase, has been associated to schizophrenia in family-based linkage disequilibrium (LD) studies. The single nucleotide polymorphism (SNP) rs175174 (A/G), which had the strongest association, has been shown recently to regulate the level of the fully functional transcript by modulating the retention of intron 4 of ZDHHC8. In this work, we genotyped three genetic variants within the ZDHHC8 locus and conducted association studies in both population- and family-based samples of the Han Chinese population. The three polymorphisms spanning approximately 5.5 Kb were detected to be in significant LD. Our results provided compelling supportive evidence for association of the variants within the ZDHHC8 locus with schizophrenia but revealed different risk allele at SNP rs175174. The G allele was significantly more common in cases than in controls (69.47 : 59.96%; P=0.000018) and excess transmission of the same allele was confirmed in the family-based transmission disequilibrium test (transmitted/non-transmitted=87 : 54; P=0.0055). Both sample sets even shared the same risk haplotype with similar frequency. Our current data presents consistent association results obtained from both case-control and family-based samples in a same laboratory under the same experimental condition. Despite the potential genetic heterogeneity, our independent findings further support that the 22q11 region is likely to harbor candidate schizophrenia susceptibility genes.

Acyltransferases↗

Tumor suppressor gene TP53 is genetically associated with schizophrenia in the Chinese population.

Schizophrenia is a debilitating mental disorder. The TP53 tumor suppressor gene, encoding a phosphoprotein, is a key element in maintaining genomic stability and cell apoptosis. Recently, reduced risk of cancer in patients of schizophrenia has been reported. Some evidence also suggests the possible implication of TP53 in neurodevelopment. In order to examine the role of the TP53 gene in the pathogenesis of schizophrenic disorders, we investigated the genetic association between a functional polymorphism rs1042522 and schizophrenia by sequencing the fragment covering 72Pro> Arg in 701 cases and 695 controls in this work. In addition, we studied two other SNPs rs2078486 and rs8064946 by allele-specific PCR in the same samples. Though rs1042522 and rs8064946 did not show positive association with schizophrenia, we did observe statistically significant differences on SNP rs2078486 (P-value = 0.029; OR = 1.21; 95% CI 1.02-1.42) and on haplotype CAC (P-value = 0.0068; OR = 1.36; 95% CI 1.09-1.70). These results demonstrated that TP53 might play a role in susceptibility to schizophrenia.

Adult↗

No genetic association between polymorphisms in the AMPA receptor subunit GluR4 gene (GRIA4) and schizophrenia in the Chinese population.

The glutamatergic dysfunction hypothesis of schizophrenia suggests genes involved in glutamatergic transmission as candidates for schizophrenia-susceptibility genes. It has recently been reported that some haplotypes in the AMPA receptor subunit GluR4 Gene (GRIA4), which is located on chromosome 11q22, are positively associated with schizophrenia in the Japanese population. In order to assess the role of GRIA4 in schizophrenia, we examined three reported positive SNPs (single nucleotide polymorphisms): rs609239, rs641574 and rs659840 at the GRIA4 locus in schizophrenic cases (n = 372) and controls (n = 392) of the Chinese population. Although we had observed similar allele and genotype frequencies compared with that in the Japanese population, no evidence was found for association with the disease in the analysis of either single nucleotide polymorphisms (all P-values > 0.300) or haplotype relative risk (all P-values > 0.088). Our results suggest that the three SNPs of GRIA4 are unlikely to play a major role in the susceptibility to schizophrenia in the Chinese population.

Adult↗

A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene. In this work, we reveal a novel insertion mutation in the 3'UTR of the FOXL2 gene in a big Chinese family which is to our knowledge the first BPES (type II) family reported in China. It is the first time that a 3'UTR mutation in the FOXL2 gene has ever been found to demonstrate a close correlation between genotype and BPES. Our result gains a greater insight into the function of 3'UTR in the FOXL2 gene.

Base Sequence↗

Family-based association study of synapsin II and schizophrenia.

Synapsin II has been proposed as a candidate gene for vulnerability to schizophrenia on the basis of its function and its location in a region of the genome implicated by linkage studies in families with schizophrenia. We recently reported positive association of synapsin II with schizophrenia in a case-control study (Chen et al. 2004). However, since case-control analyses can generate false-positive results in the presence of minor degrees of population stratification, we have performed a replication study in 366 additional Han Chinese probands and their parents by use of analyses of transmission/disequilibrium for three in/del markers and three single-nucleotide polymorphisms. Positive association was observed for rs2307981 (P =.02), rs2308169 (P =.005), rs308963 (P =.002), rs795009 (P =.02), and rs2307973 (P =.02). For transmission of six-marker haplotypes, the global P value was.0000016 (5 degrees of freedom), principally because of overtransmission of the most common haplotype, CAA/-/G/T/C/- (frequency 53.6%; chi (2) = 20.8; P =.0000051). This confirms our previous study and provides further support for the role of synapsin II variants in susceptibility to schizophrenia.

Adult↗

No association between the promoter variants of tumor necrosis factor alpha (TNF-alpha) and schizophrenia in Chinese Han population.

An increasing amount of evidence suggests that the pathophysiology of schizophrenia is associated with activation of the immune system. Four studies have established an association of -308G/A polymorphism of tumor necrosis factor alpha (TNF-alpha), a cytokine involved in inflammatory processes, with schizophrenia [Mol. Psychiatry 6 (2001) 79; Mol. Psychiatry 8 (2003) 718; Schizophr. Res. 65 (2003) 19; Biol. Psychiatry 54 (2003) 1205]. In the present study, however, no significant positive association has been found between any individual SNP or haplotype constituted of the five promoter polymorphisms (-1031T/C, -863C/A, -857C/T, -308G/A and -238G/A) in the human TNF-alpha gene and schizophrenia (314 Chinese Han schizophrenic patients and 340 healthy control). A meta-analysis we did in this work, which is based on previous nine studies plus our own unpublished data including a total of 2399 schizophrenic patients (sporadic cases 2099, familial cases >505) and more than 3261 controls, failed to show significant difference of -308G/A distribution between patients and controls in both the whole sample and the pooled Asian sample. By contraries, the significant results in the pooled Caucasian sample imply an ethnic heterogeneity in -308G/A variation in the TNF-alpha gene in schizophrenia.

Adult↗