Objective To investigate the pregnancy outcomes of couples with either maternal or paternal balanced translocations.Methods One hundred and ninety-four couples were divided into three groups based on the kind of translocations:135 with reciprocal translocation,52 with nonhomologous Robertsonian translocations,and 7 with homologous Robertsonian translocations.Past reproductive histories were surveyed.For those who wanted to have their own babies by natural conceptions after knowing their karyotypes as well as the risks of abnormal offsprings,subsequent pregnancy outcomes were recorded.Total pregnancy outcomes were compared between three groups.Results(1)503 previous and subsequent pregnancies were recorded in detail.The pregnancy outcomes are as follows:spontaneous abortions 81.7% (411/503);induced terminations because of fetal abnormalities 3.2%(16/503);birth defects 7.2% (36/503);normal/balanced offsprings 8.0%(40/503).In reciprocal translocations,nonhomologous Robertsonian translocations and homologous Robertsonian translocations,the birth defects rates were 5.7% (20/350),10.9%(14/128)and 8.0%(2/25),respectively(P

Objective To construct the small interfering RNA (siRNA) targeting heparanase gene and its expressing vector,and to observe its interference effect on the expression of heparanase gene and inhibitory effect on the invasive potential of human malignant melanoma A375 cells.Methods Three siRNAs were designed.The recombinant plasmid pRNATU6.1/heparanase-siRNA was designed and constructed. A375 cells were cultured,and transfected with pRNATU6.1/heparanase-siRNA.The cells treated with lipo- fectamine or Opti-MEM served as the controls.Real-time fluorescence quantitative PCR and Western blot were performed to evaluate the expression of heparanase RNA and protein in these treated A375 cells.The in vitro invasive potential of treated A375 cells was assessed by Matrigel gel assay.Results The siRNA targeting heparanase gene was successfully cloned to the eukaryotic expressing vector pRNATU6.1.The expression levels of both heparanase RNA and protein decreased significantly in siRNA-transfected A375 cells than those in the control cells.The in vitro invasive potential of siRNA-transfected cells was also signifi- cantly inhibited as compared with that of the control cells (P

The pathogenesis and etiology of still remain unknown. Current evidence suggests that the occurrence of depression may be related to a reduced secretion of neurotransmitters, neuronal apoptosis, inflammation, intestinal flora and other factors. Although the commonly used antidepressants such as SSRIs, SNRIs, NaSSA, and SARIs produce some therapeutic effects, they fail to relieve the full spectrum of the symptoms of depression. In recent years, esketamine was found to produce a potent and a long-lasting antidepressant effect by acting on the NMDA receptors. Herein the authors review the progress in the study of the pathogenesis and drug therapies of depression, the efficacy of esketamine treatment and the underlying mechanism, and the prospect of esketamine treatment. Currently the mechanism of the antidepressant effect of esketamine remains indeterminate and its clinical application is limited, but its effect in rapidly alleviating the symptoms of depression suggests its bright prospect for clinical applications.
Antidepressive Agents ; pharmacology ; Depression ; drug therapy ; Humans ; Ketamine ; pharmacology ; Receptors, N-Methyl-D-Aspartate

Objective To investigate the CT findings of Madelung's disease in the head and neck region,and to evaluate the value of CT in demonstrating the Madelung's disease in the head and neck region.Methods CT findings of Madelung's disease in the head and neck region in 7 cases were analyzed retrospectively.All were males,with the age from 36 to 60 years,mean 51 years.All patients were underwent CT native scan,and enhanced CT scan was performed on 3 of them.Results CT images in the neck of all patients showed accumulation of nonencapsulated fat within the subcutaneous tissue and(or) deep to the platysma,and(or)within the spaces between the muscles.The fat deposits were ill-defined and symmetrical.In most cases the fat deposits involved the anterior part of the neck(infrahyoid and suprahyoid),submandibular region,the subcutaneous tissue of the nape and deep to the stenomastoid muscles.Conclusions Madelung's disease in the head and neck region have characteristic CT findings,and CT has great value in qualitative and quantitative diagnosis in Madelung's disease.

BACKGROUNDMultiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).

METHODSFive patients were included in the study. Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members.

RESULTSWe have identified a novel mutation in axon 14 of COMP gene in the family.

CONCLUSIONSThis mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.

Adolescent ; Asian Continental Ancestry Group ; Cartilage Oligomeric Matrix Protein ; genetics ; Female ; Humans ; Male ; Osteochondrodysplasias ; genetics ; Pedigree ; Point Mutation ; genetics

OBJECTIVETo establish a specific, sensitive and practicable method for detection and typing of dengue virus.

METHODSBased on the genomic sequence analysis of dengue virus types 1-4, 4 pairs of primers were designed. The specific capture probes of dengue virus types 1-4 were amplified using RT-PCR, cloned and sequenced before using them for precoating the microwell plate. The samples were amplified using biotin-labeled forward primer and reverse primer, and microwell plate hybridization was carried out for detection and typing of dengue virus types 1-4.

RESULTSThe absorbance of the positive samples were higher than 0.5, while the average absorbance of the negative samples was lower than 0.1, with the S/N higher than 10.

CONCLUSIONThe method of PCR-ELISA we established for early detection and typing of all 4 dengue viruses seretypes.

Dengue Virus ; classification ; genetics ; Enzyme-Linked Immunosorbent Assay ; methods ; Nucleic Acid Hybridization ; methods ; Polymerase Chain Reaction ; methods ; Reproducibility of Results ; Serotyping ; methods

Objective To observe the influence of combination therapy ofprobucol,aspirin and statins drugs (PAS) on levels of serum oxidized low-density lipoproteins (ox-LDL),pregnancy-associated plasma protein A(PAPP-A) and marix metalloproteinase-3(MMP-3) and resolution of carotid vulnerable plaque in patients with acute cerebral infarction (ACI).Methods One hundred and thirty-five patients with ACI,admitted to our hospital from September 2007 to July 2010,were chosen in our study; according to the results of carotid artery ultrasound,these patients were divided into carotid stable plaque group (n=45) and carotid vulnerable plaque group (n=90).Stable plaque group was considered as control group; 90 patients with carotid vulnerable plaque were randomly subdivided into aspirin and statins drugs (AS) group (n=45,aspirin 100 mg/d,atorvastatin 20 mg/d,orally) and PAS group (n=45,aspirin 100 mg/d,atorvastatin 20 mg/d,probucol 0.25 g/time,2 times/day,orally).Levels ofOx-LDL,PAPP-A and MMP-3 were detected in all patients before treatment and four weeks after drug therapy.The intima-media thickness,plaque area and echogenicity of carotid plaques were evaluated by Doppler ultrasonography during a 12-month follow-up period.Results Before treatment,serum ox-LDL,PAPP-A and MMP-3 levels in AS group and PAS group were significantly higher than those in the control group (P＜0.05); no significant differences of ox-LDL,PAPP-A and MMP-3 levels were noted between AS and PAS groups (P＞0.05).Four weeks after treatment,levels of serum ox-LDL,PAPP-A and MMP-3 in PAS group were significantly lower than those in AS and control groups (P＜0.05); the decrease of levels of ox-LDL,PAPP-A and MMP-3 in PAS group was obviously higher than that in AS and control groups (P＜0.05).Twelve months after treatment,significant decrease of plaque area and intima-media thickness (IMT) was noted in the AS and PAS groups (P＜0.05); the IMT and plaque area in PAS group were significantly smaller than those in AS group (P＜0.05); obvious decrease of echogenicity of carotid plaques in PAS group was noted as compared with that in AS group (P＜0.05).Conclusion Combination therapy of PAS might have strong anti-oxidant function and lipid-lowering effect,which could reverse and stabilize the atherosclerosis plaque.

OBJECTIVETo observe the characteristics and difference of gene expression in the pituitary adenomas and para-tumor normal pituitary tissues.

METHODSUsing serial analysis of gene expression (SAGE), two SAGE libraries were generated. Forty clones from each SAGE library were sequenced, and the results were analyzed by SAGE2000 software and compared with the SAGE map at NCBI.

RESULTSA total of 655 gene tags, representing 43 genes, were extracted from the 40 sequence files of the para-tumor normal pituitary tissues and 737 gene tags, representing 53 genes, were extracted from the 40 sequence files of the pituitary adenomas. Of these tags, 13 were not reported before. The genes related to pituitary hormone secretion and energy metabolism were highly expressed in the two kinds of tissues. Some growth factors and cytokines were also expressed, including those involved in the immunological system. But there were also much difference of gene expression in the two tissues. Thirty-one and five tags were only detected in para-tumor normal pituitary tissues and pituitary adenomas, respectively.

CONCLUSIONSGenes involved in hormones secretion and energy metabolism were highly expressed in the pituitary adenomas and para-tumor normal pituitary tissues. Many growth factors and cytokines were also expressed in pituitary. There was also much difference of gene expression in the two kinds of tissues. SAGE can be used not only in understanding the quantity information of gene expression, but also in finding new genes.

Adenoma ; genetics ; metabolism ; Base Sequence ; Cloning, Molecular ; Expressed Sequence Tags ; Gene Expression ; Gene Expression Profiling ; methods ; Gene Expression Regulation, Neoplastic ; Gene Library ; Humans ; Molecular Sequence Data ; Oligonucleotide Array Sequence Analysis ; Pituitary Gland ; metabolism ; Pituitary Neoplasms ; genetics ; metabolism

FGF21 (fibroblast growth factor 21) is a recently described member of the FGF family. It has been previously demonstrated that FGF21 is a potent regulator of glucose homeostasis. To improve stability of FGF21 for better efficacy, a new form of recombinant FGF21 was generated by fusion of a full length FGF21 gene and the Fc fragment of human IgG4 with flexible linker sequence. To examine the glucose regulation activity of FGF21-L-Fc, 3T3-L1 pre-adipocytes were differentiated into adipocytes, and glucose uptake activity of FGF21-L-Fc was examined by glucose oxidase and peroxidase (GOD-POD) assay. The results showed that in comparison with wild type FGF21, FGF21-L-Fc was more potent in stimulation of glucose uptake by 3T3-L1. In vivo studies on the modified protein demonstrated that FGF-L-Fc had a better efficacy in lowering blood glucose of the STZ-induced diabetic animals and controlled glucose level for a longer time. The results provided a sound basis for further studies.
3T3-L1 Cells ; Adipocytes ; metabolism ; Animals ; Blood Glucose ; metabolism ; Diabetes Mellitus, Experimental ; drug therapy ; metabolism ; Escherichia coli ; metabolism ; Fibroblast Growth Factors ; genetics ; pharmacology ; Glucose ; metabolism ; Immunoglobulin G ; genetics ; pharmacology ; Male ; Mice ; Recombinant Proteins ; genetics ; pharmacology

BACKGROUND AND OBJECTIVEIn Guangxi province, from 1970s to 1990s, the mortality of primary liver cancer (PLC) ranked the first among a variety of malignant tumors. Investigating the epidemiological characteristics of PLC is very important for developing reasonable and effective treatment strategy, allocating health resources rationally, and evaluating the quality of PLC prevention and control. This study was to analyze the mortality and epidemiological characteristics of PLC in Guangxi province between 2004 and 2005.

METHODSMulti stage stratified cluster random sampling method was used to select 9 counties (cities or urban areas) as sample points. The residents' death causes between 2004 and 2005 were analyzed, and the epidemiological characteristics of PLC were investigated.

RESULTSIn the period of 2004-2005, the crude mortality of PLC was 34.39/100,000 in Guangxi province population (55.30/100,000 in men and 13.21/100,000 in women). The national population standardized mortality in 1964 was 22.17/100,000. The man to woman ratio of mortality was 4.19:1. PLC ranked as the first death cause among a variety of malignant tumors, and PLC related death accounted for 30.70% of all tumor related death cases. Age specific mortality of PLC was increased with age, rising significantly from 30 year old (from 25 year old in men and from 40 year old in women), and reached a peak at 75 year old.

CONCLUSIONSThe mortality of PLC shows a decreasing trend in Guangxi province in the early 21st century, and the starting age of PLC death peak postpones about 10 years than that in 1990s. It shows that the comprehensive prevention and control measures of PLC implemented in Guangxi province are fruitful. However, the PLC mortality in Guangxi province is still significantly higher than the national average level, and it still ranks as the first death cause in a variety of malignant tumors in Guangxi province. PLC mainly occurs in middle aged and elderly people. The prevention and treatment research of PLC still has a long way to go.

Adolescent ; Adult ; Age Distribution ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Infant ; Liver Neoplasms ; epidemiology ; mortality ; Male ; Middle Aged ; Mortality ; trends ; Sex Distribution ; Young Adult