Objective To explore the effects of arctigenin on inhibiting proliferation of type Ⅱ endometrial carcinoma cells , and its relationship with vascular endothelial growth factor ( VEGF).Methods The typeⅡendometrial carcinoma cells line were divided into control group , test A group and test B group.The control group were cultured for 7 days without any drugs.The test A group and test B group were treated with Arctigenin for 7 days at the concentration of 10 μmol · L-1 and 20 μmol· L-1 respectively.Cell proliferation and inhibition level were measured by cell counting kit ( CCK -8 ) and cell growth curve.The expression of mRNA and protein for VEGF were measured by reverse transcription polymerase chain reaction and Western blot.Results Comparing with the control group , the test A group and test B group have inhibitory effects on proliferation of type Ⅱendometrial carci-noma cell line ( P<0.05 ).The effect of inhibition in test B group was more obvious than in test A group ( P<0.01 ).The expression of mRNA and protein for VEGF in test A group and test B group decreased ( P<0.05 ).The expression level in test B group decreased more significantly than in test A group ( P<0.01 ).Conclusion The effect of Arctigenin on inhibiting proliferation of typeⅡendometrial carcinoma cells is implemented by down-regulating the genetic expression of VEGF.

OBJECTIVETo confirm the diagnosis of multiple carboxylase deficiency (MCD) on the gene level and explore the mutations in Chinese children with MCD.

METHODSBiotinidase (BT) and holocarboxylase synthetase (HLCS) genes were analyzed by PCR and direct sequencing for the 4 BT deficiency patients and 8 HLCS deficiency patients, respectively. The identified mutations in the parents of the patients and 50 normal controls were screened by PCR-restriction fragment length polymorphism and direct DNA sequencing.

RESULTSTotal detection rate of gene mutation is 100% in the 12 children with MCD. Six mutations were detected in the 4 children with BT deficiency, they were c. 98-104del7ins3, c. 1369G>A (V457M), c. 1157G>A(W386X), c. 1284C>A(Y428X), c. 1384delA and c. 1493_1494insT. The last four were novel mutations. Four mutations were found in the 8 children with HLCS deficiency. They were c. 126G>T (E42D), c. 1994G>C (R665P), c. 1088T>A (V363D) and c. 1522C>T (R508W). The last two were hot-spot mutations [75%(12/16)], and c. 1994G>C (R665P) was a novel mutation.

CONCLUSIONThis study confirmed the diagnosis of 12 patients with MCD on the gene level. Six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations. Two mutations of the HLCS gene are probably hot-spot mutations in Chinese children with HLCS deficiency.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Biotinidase ; genetics ; Biotinidase Deficiency ; Carbon-Nitrogen Ligases ; deficiency ; genetics ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Multiple Carboxylase Deficiency ; genetics ; metabolism ; Mutation

OBJECTIVETo report a case of acute myeloid leukemia (AML) with the insertion (8;21)(q22;q22.1q22.3). A 33-year-old Chinese woman was referred to our hospital. Hematologic data showed WBC 42.7 x 10(9)/L with monocytosis (monocyte counts 7.296 x 10(9)/L). Bone marrow aspirate was hypercellular with 4.5% monoblasts and 7.5% promonocytes. At first she was diagnosed with chronic myelomonocytic leukemia (CMML) according to the FAB criteria. Initially the patient received supportive care only, but her general condition rapidly became worse three months later. The monoblasts and promonocytes in the bone marrow rose to 20.5%. After two cycles of combined chemotherapy she obtained complete remission.

METHODSChromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was carried out by R-banding technique. Three fluorescence in situ hybridization (FISH) analyses were performed using AML1-ETO dual color, dual fusion probe, whole chromosome painting 8 and 21 probes, and cen-8 and Tel 21qter probes, respectively. Reverse transcription polymerase chain reaction (RT-PCR) assay for detecting the AML1-ETO fusion transcript was also performed.

RESULTSConventional cytogenetic analysis showed a karyotype of 46,XX,ins(8;21) (q22;q22.1q22.3)[7]/46,XX[3]. FISH tests confirmed the insertion. RT-PCR analysis detected the AML1-ETO fusion transcript.

CONCLUSIONWe consider that this patient should be rediagnosed as acute myeloid leukemia according to the criteria proposed by World Health Organization (WHO) and that FISH and RT-PCR play an important role in verification of the ins(8;21).

Chromosome Banding ; Chromosomes, Human, Pair 15 ; Chromosomes, Human, Pair 19 ; Chromosomes, Human, Pair 8 ; Core Binding Factor Alpha 2 Subunit ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myeloid ; genetics ; Translocation, Genetic

Objective To establish an emergency care mode with fixed position and station for outpatient nurses and to evaluate the effectiveness of this mode.Methods Current problems in emergency care were analyzed,a system-improving team was formed,and the emergency care mode with fixed position and station for outpatient nurses was established.Emergency care start-up time,successful emergency rescue rate and rate of disputes and complaints caused by emergency issues were compared before and after application of the mode.Results After application,emergency care start-up time was reduced from (5.45-±1.21)min to (2.71±0.97)min;successful emergency rescue rate was increased from 82.5％ to 96.55％;rate of disputes and complaints caused by emergency issues was decreased from 12.5％ to 1.72％.All differences were statistically significant(P＜0.05).Conclusion The emergency care mode with fixed position and station for outpatient nurses can shorten emergency care start-up time,increase successful emergency rescue rate,reduce rate of disputes and complaints caused by emergency issues,and further improve general emergency system of the hospital.

BACKGROUNDRetroperitoneal sarcoma is a rare disease with poor prognosis. The aim of this study was to investigate the prognostic factors of the disease.

METHODSBetween January 1988 and December 2003, 132 patients with retroperitoneal sarcoma were surgically treated in our hospital, 79 of them were followed up for 1 - 122 months (median: 19 months). Their clinicopathological data including tumor size, histological subtype, grade and resection margin status, were studied. The Kaplan-Meier method and log-rank test were used to analyze the disease-specific survival rates after the resection.

RESULTSAmong the 132 patients, 98 (74.2%) received macroscopic complete resection, 29 (22.0%) incomplete resection, and 5 (3.8%) surgical biopsy. In the 79 patients who were followed up, macroscopic clear resection of retroperitoneal sarcoma (n = 49) was associated with a significantly higher survival rate compared with unclear resection (n = 30, P < 0.001). The median survival period was 31 months (95% CI, 20.09 - 41.91; actuarial 1-year survival, 85.7%) in the patients with the tumor completely resected and 11 months (95% CI, 6.71 - 15.29; actuarial 1-year survival, 46.7%) in those with incomplete resection. Patients with high-grade sarcomas had a significantly shorter survival time (n = 39; median: 24, 95% CI: 5.71 - 42.29) than those with low-grade sarcomas (n = 40; median: 15; 95% CI: 8.80 - 21.20; P < 0.01). Moreover, compared with the patients with the tumor sized < 15 cm in diameter (n = 53), the survival rate was lower in those with a sarcoma sized > 15 cm (n = 26). (Median: 12, 95% CI: 8.26 - 15.74 vs median: 24, 95% CI: 17.25 - 30.75; P < 0.05). Furthermore, the survival of the patients with liposarcomas (n = 29, median: 29, 95% CI: 12.84 - 45.16), leiomyosarcomas (n = 14, median: 11, 95% CI: 6.11 - 15.89), and others (n = 36, median: 22, 95% CI: 14.95 - 29.05) varied significantly (P < 0.05).

CONCLUSIONCompleteness of resection, tumor volume, grade, and subtype are prognostic factors of retroperitoneal soft tissue sarcomas.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Prognosis ; Retroperitoneal Neoplasms ; mortality ; pathology ; surgery ; Sarcoma ; mortality ; pathology ; surgery ; Survival Rate

OBJECTIVETo study the incidence of various enzyme deficiency in tetrahydrobiopterin (BH4) metabolism and the related gene mutation among the patients with motor disturbance and mental retardation.

METHODSOne hundred patients with unknown motor disturbance and mental retardation were referred to this study. All patients were performed by phenylalanine (Phe) and BH4 loading test, urinary pterin analysis and dihydropteridine reductase (DHPR) activity. Some patients received the dopa treatment for diagnosis of dopa-responsive dystonia (DRD). The analysis of GTP cyclohydrolase 1 gene (GCH1) mutation for DRD patients and the analysis of 6-pyruvoyl tetrahydropterin synthase (PTS) gene mutations for PTS deficient patients were done under the consent from their parents.

RESULTSSeventy of 100 patients had normal basic blood Phe levels, six (6%) patients were diagnosed as DRD. Thirty patients had hyperphenylalaninemia (HPA), eight (8%) were diagnosed as PTS deficiency and 22(22%) were diagnosed as phenylalanine hydroxylase (PAH) deficiency. All patients had normal DHPR activity. The mutation IVS5+3insT of GCH1 was found in 2 patients with DRD. Seven kinds of PTS mutations were found in 8 patients with PTS deficiency, and 75% of the mutations were 259C-->T,286G-->A and 155A-->G.

CONCLUSIONSome patients with unknown motor disturbance and mental retardation may suffer from BH4 metabolism related diseases. Theses patients are necessary to be screened for such kind of diseases in order to confirm the diagnosis.

Adolescent ; Biopterin ; analogs & derivatives ; metabolism ; Child ; Child, Preschool ; Dihydropteridine Reductase ; genetics ; metabolism ; Dystonia ; genetics ; metabolism ; Female ; GTP Cyclohydrolase ; genetics ; metabolism ; Humans ; Infant ; Intellectual Disability ; genetics ; metabolism ; Male ; Mutation ; Phenylalanine Hydroxylase ; genetics ; metabolism ; Phosphorus-Oxygen Lyases ; genetics ; metabolism

OBJECTIVETo explore the relationship between polymorphisms of FAS and FASL genes and genetic susceptibility of silicosis.

METHODSA case-control study was conducted. The case group was 183 male patients with silicosis and the control group was 111 male silica-exposed but without silicosis miners. Data on total dust concentrations was collected to estimate cumulative total dust exposure (CTE) of each subject and each person's characteristics and work history were obtained from questionnaire. Polymerase chain reaction re-strained fragment length polymorphism technique (PCR-RFLP) was applied to detect the single nucleotide polymorphisms (SNPs) of FAS-1377, FAS-670 and FASL-844. Associations between polymorphisms and risk of silicosis and stages, interactions between polymorphisms, between polymorphisms and CTE and smoking and haplotypes were analyzed.

RESULTSThere were no differences in the FAS-1377, FAS-670 and FASL-844 genotypes between the case group and the control group (P > 0.05). No association was observed between FAS-1377, FAS-670 and FASL-844 polymorphisms and silicosis and stages (P > 0.05). The frequencies of FAS-1377G/-670G haplotype in the cases (9.6%) were higher than those in the controls (3.6%) (P < 0.05). No interactions between the polymorphisms of different genes, the gene polymorphism and the total accumulative total dust, the gene polymorphism and smoking were observed (P > 0.05).

CONCLUSIONFAS-1377, FAS-670 and FASL-844 polymorphisms are not susceptible factors of silicosis. The FAS-1377G/-670G haplotype might be a susceptibility marker of silicosis.

Aged ; Aged, 80 and over ; Case-Control Studies ; Fas Ligand Protein ; genetics ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Silicosis ; genetics ; fas Receptor ; genetics

OBJECTIVETo investigate the prevalence of the mitochondrial DNA (mtDNA) A1555G mutation in nonsyndromic hearing impairment (NSHI) patients from Gansu province.

METHODSSubjects included 802 students selected from five Deaf-Mute Schools in Gansu. DNA was extracted from peripheral blood of all patients. The mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The Mutations were detected by AIw26I digestion and sequence analysis.

RESULTSThe homoplasmic A1555G mutation was found in 67 individuals from 802 patients (8.4%). Fifteen of these 67 patients had family histories.

CONCLUSIONSThe mtDNA A1555G mutation had a higher incidence in Gansu population with nonsyndromic hearing impairment than other studies. The data not only gaven more evidences that the prevalence of mtDNA A1555G mutation in china was higher than that in Europe and America, but also gaven valuable information for gene diagnosis, genetic counseling and would improve the safety of aminoglycoside antibiotic therapy.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA, Mitochondrial ; genetics ; Deafness ; genetics ; Female ; Humans ; Male ; Mutation ; Young Adult

OBJECTIVETo investigate the incidence of hyperphenylalaninemia (HPA) caused by different etiologic factors in China and the relationship between the phenylalanine and mental development of patients with HPAs who were diagnosed by neonatal screening and early treated.

METHODSTwo hundred and twenty-three patients with HPA detected by neonatal screening programs were refered to us at the age of (41 +/- 27) days after birth. The differential diagnosis was performed by BH(4) (20 mg/kg) loading test, urinary pterin analysis and dihydropteridine reductase (DHPR) activity determination respectively. The control of phenylalanine (Phe) metabolism, growth and mental development were evaluated in all treated patients. Related gene mutation analysis was performed in some patients

RESULTSOne hundred and twenty-nine of 223 patients (57.8%) were diagnosed as phenylalanine hydroxylase deficiency (PAHD), 64 patients (28.7%) as BH(4) responsive PAHD, 30 patients (13.5%) as 6-pyruvoyl tetrahydropterin synthase deficiency (PTSD). One hundred and forty-nine patients were followed at age of 4 m - 2 y in our clinic. The 136 of 149 patients were treated according to different etiology at the age of 1.6 m (0.5 - 3.5 m) after birth. Thirteen patients were followed up without the need for treatment. All patients had normal growth development. One hundred and eight (79.4%) of 136 treated patients had normal mental development. The negative correlation (r = -0.439, P < 0.01) between IQ and average Phe levels were observed in 58 patients. Twenty-eight patients were able to go to primary school or even university. Nine kinds of PTS gene mutations were found in 9 cases with PTSD, among which 286G-->A and 259C-->T were most commonly seen, accounting for 45%. Seven kinds of PAH gene mutations were found in 13 cases with BH(4) responsive PAHD with the R241C (43.8%) mutation being the most frequent one.

CONCLUSIONThe differential diagnosis should be quickly made in all HPA patients detected by neonatal screening. Near 80% patients early treated had normal mental development. The good control of blood Phe level is a key factor for mental development.

China ; epidemiology ; Female ; Follow-Up Studies ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Neonatal Screening ; methods ; Phenylalanine ; blood ; Phenylketonurias ; diagnosis ; epidemiology ; prevention & control ; Time Factors

OBJECTIVETo obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase(PAH) gene.

METHODSThe samples from 127 patients with phenylketonuria(PKU) were studied by polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) PCR-denaturing gradient gel electrophoresis(DGGE) and direct DNA sequencing.

RESULTSFour heterozygous mutations including R413P S411X R408W R408Q in 10 of 127 patients were identified by DNA sequencing. The frequencies of R413P S411X R408W R408Q mutation were 2.76%, 0.39%, 0.39% and 0.39%, respectively. The S411X mutation in Chinese was first reported. Only 2 cases with R413P mutation were detected by SSCP. DGGE analysis showed that 10 cases displayed 3 kinds of abnormal electrophoretic bands. There were no obvious differences in the frequency of R413P mutation between northern and southern Chinese with PKU, and between classical PKU and hyperphenylalaninemia.

CONCLUSIONDGGE is more sensitive than SSCP in screening the mutations of exon 12 of the PAH gene. DGGE combined with DNA sequencing can be used to define all the mutations of exon 12 of the PAH gene. These results indicate the similarity in the frequency of R413P mutation between northern and southern patients.

Electrophoresis, Polyacrylamide Gel ; Exons ; Humans ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; genetics ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA