Objective To observe the features of a rare Miao pedigree of Bardet-Biedl syndrome in Yunnan province and to reserve its gene. Methods Three patients of this pedigree were reported. Their clinical and biochemical features were compared with those of the other pedigree members. Lymphocytes from main members of this pedigree were collected and transformed with cyclosporine A methods. Immortalized B lymphocyte strains were checked by means of chromosome karyotype analysis. Results Patients of this pedigree demonstrated typical clinical characteristics of this syndrome with increased body weight, blood pressure, fasting glucose, and lipoprotein(a)as compared with the other pedigree members(P＜0. 05). The chromosome karyotype of the lymphocytes before and after transformation was kept consistent. Conclusions Patients of this Miao pedigree showed typical clinical characteristics of this syndrome as well as abnormal metabolic features. Immortalized B lymphocyte strains with their genetic information were set successfully.

AIM: To analyze the genotype of the allele distribution of a polymorphic G-954C within the 5 upstream promoter region of the nitric oxide synthetase 2A gene (NOS2A) in samples of diabetic retinopathy in patients with cystoid macular edema in the mainland of China.METHODS: Eighty-nine patients with diabetic retinopathy and cystoid macular edema and 90 healthy controls were enrolled in this study. Nest polymerase chain reaction (PCR)was performed, and restriction endonudease digestion and gene fragments sequence were examined to detect the genotype of NOS24 G-954C.RESULTS: The genotypes of the sample population of 89 cases and 90 healthy controls were all detected as GG.CONCLUSION: The distribution of G-954C of NOS2A polymorphism are at a lower frequency in China, with little relevancy to the frequency of diabetic retinopathy combined with cystoid macular edema.

Bacterial Outer Membrane Proteins ; chemistry ; genetics ; physiology ; Bacteriophages ; chemistry ; Humans ; Receptors, Virus ; chemistry ; Vibrio cholerae ; virology

OBJECTIVEThrough introduction of principal theory and algorithm of propensity score to design SAS macro programs for binary data.

METHODSPropensity score method was used to compare the differences of character variables between two groups, and the association of DNR (Do Not Resuscitate) with the mortality of congestive heart failure was evaluated with different methods.

RESULTSSignificant differences among the character variables between two groups were effectively balanced with stratification or matching method. The odds ratios of DNR with the in-hospital mortality rate of congestive heart failure were estimated identical with different algorithms and to find that the association of DNR to in-hospital mortality was highly significant.

CONCLUSIONPropensity score was a good algorithm that could be used to analyze any kind of observational data for matching the effects among the character variables.

Algorithms ; Bias ; Heart Failure ; mortality ; Humans ; Models, Statistical

OBJECTIVETo analyze sequences of the housekeeping genes including recA, dnaE, and mdh in different serogroups or different biotypes of Vibrio cholerae (VC) strains isolated from China.

METHODS AND RESULTSrecA, dnaE, and mdh genes of Vibrio cholerae were obtained by PCR, sequenced and analyzed. Forty-four variable bases were identified in the 500 bases of recA gene of 18 VC strains, and the mutation of only 3 variable bases could result in changes of 2 amino acids. In the 600 bases of dnaE genes of 18 strains, 32 variable bases were found and only 1 contributed to an amino acid change. In the 367 bases of mdh genes of 18 strains, only 1 variable base was identified whose mutation involved an amino acid convertion. Toxic EI Tor biotype (EVC) strains and toxic O139 serogroup strains were closely related. Non-toxic strains of different serogroups or types were lowly related. Non-toxic and toxic strains of different serogroups or types were lowly related.

CONCLUSIONToxic EVC and toxic O139 serogroup strains isolated from different areas of China may evolve from a common original strain, and toxic O139 VC strains may come from toxic EVC strains.

Bacterial Proteins ; genetics ; Base Sequence ; China ; DNA Polymerase III ; genetics ; Gene Expression Profiling ; Humans ; Molecular Sequence Data ; Phylogeny ; Rec A Recombinases ; genetics ; Sequence Analysis, DNA ; Sequence Homology, Nucleic Acid ; Vibrio cholerae ; classification ; genetics ; isolation & purification

OBJECTIVETo establish an animal model of traumatic optic neuropathy (TON) that resemble to clinical state and study the mechanical principle and change of pathophysiology of its nerve injury for clinical diagnosis and treatment.

METHODSNew Zealand white rabbits were used as the research objects. The method introduced by Wang Yi was repeated and improved. Mild and severe animal models of TON were established by reformed Wang Yi operation separately. After the spring gun struck, all animals were observed on pupils and direct light reflex and received the examinations of pattern reversal visual evoked potentials (PR-VEP). The pathophysiology of normal and injury optic nerve was observed.

RESULTSAfter recovery from anesthesia, the mydriasis and disappearance or dullness of direct light reflex happened in all injured eyes. No brain contusion, infection, orbital fracture and death were found. One optic nerve was broken with complete tunica vaginalis. The latency and amplitude of injured eyes deteriorated gradually. In group B, the waves became flat rapidly. After injury, the optic nerve underwent 3 stages: edema, hyperplasia and atrophy. The pathomorphological changes of injured eyes in group B were more serious than that in group A in any time.

CONCLUSIONSThe reformed operation can establish constant nerve injury with high success rate. In mildly injured eyes, the injury deteriorated gradually. However, part visual function remained. In severely injured eyes, the pathomorphological changes were irreversible sooner after struck, and the visual function lost completely. There is a good correlation between PR-VEP and pathomorphology. PR-VEP can guide the clinical diagnosis and treatment.

Animals ; Evoked Potentials, Visual ; Male ; Models, Animal ; Optic Nerve ; physiopathology ; Optic Nerve Injuries ; physiopathology ; Rabbits

Objective :To explore changes of plasma levels of BNP and copeptin (CPT) in patients with chronic heart failure (CHF) of different degrees and their correlation with cardiac function class .Methods :A total of 150 CHF patients treated in our hospital from Feb 2015 to Feb 2017 ,were selected as CHF group .Another 45 healthy volun‐ teers undergoing physical examination in our hospital simultaneously were regarded as healthy control group .Plasma BNP and CPT levels were compared between two groups .According to NYHA cardiac function class ,CHF group was further divided into class II group (n＝48) ,class III group (n＝51) and class IV group (n＝51).Plasma levels of BNP and CPT etc .were measured and compared among three subgroups .Correlation among BNP ,CPT levels and cardiac function class were analyzed in CHF patients .Results :Compared with healthy control group ,there were significant rise in plasma levels of BNP and CPT in CHF group , P＝ 0.001 both .Compared with class II group , there were significant rise in plasma levels of BNP [ (1002.82 ± 101.33) pmol／L vs.(1515.05 ± 166.73) pmol／L vs.(2102.36 ± 227.32) pmol／L] ,CPT [ (6.51 ± 1.01 ) pmol／L vs.(9.28 ± 2.89 ) pmol／L vs .(14.03 ± 3.72 ) pmol／L] and LVEDd [ (51.51 ± 4. 01) mm vs.(59.28 ± 6.19) mm vs.(64. 03 ± 5.72) mm] ,and significant reduc‐tion in LVEF [ (50. 82 ± 6. 33)% vs.(45.05 ± 4.73)% vs.(41.36 ± 2.32)%] in class III group and class IV group , and plasma levels of BNP ,CPT ,LVEDd in class IV group were significantly higher than those of class III group , and LVEF was significantly lower than that of class III group , P＝0. 001 all.Spearman correlation analysis indicated that plasma levels of BNP and CPT were significant positively correlated with cardiac function class in CHF patients ( r＝0.320 ,0.302 , P＝0.009 ,0.011).Conclusion :Along with CHF aggravates ,the plasma levels of BNP and CPT significantly rise .Cardiac function class is significant positively correlated with plasma levels of BNP and CPT .

This study was aimed to prepare a reconstructed B. Fragilis-derived recombinant α-galactosidase developed for human B to O blood group conversion. Based on the construction of recombinant E. Coli (DE3) which can express α-galactosidase, the inducing time and inducer concentration were optimized for high expression of α-galactosidase. Then, the expression products in supernatant were purified by cation and anion exchange column chromatography. The purified α-galactosidase was used to treat B group red blood cells in phosphate buffer (pH 6.8) for 2 hours to prepare O group red blood cells. The results showed that the optimal inducing conditions for α-galactosidase expression were IPTG 0.1 mmol/L, 37°C and 2 hours. The specific enzyme activity of purified protein increased from 0.42 U/mg to 2.1 U/mg as compared with pre-purification. And, the conditions of B to O blood group conversion were 26°C, pH 6.8 (neutral pH condition) and 2 hours. Moreover, 225 µg of the enzyme could converse 1 ml B red blood cells to O completely. It is concluded that the technology of expression and purification of recombinant α-galactosidase has been established, and the purified protein can converse B red blood cells to O completely, which means that an effective enzyme conversing B red blood cells to O has been obtained.
ABO Blood-Group System ; immunology ; Bacteroides fragilis ; enzymology ; Cloning, Molecular ; Escherichia coli ; metabolism ; Humans ; Recombinant Proteins ; biosynthesis ; alpha-Galactosidase ; biosynthesis

OBJECTIVETo investigate the differential gene expression profile from patients with Bardet-Biedl syndrome (BBS) by oligonucleotide microarray technique.

METHODSTotal RNA of 3 probands with BBS and 4 healthy siblings were isolated from peripheral blood mononuclear cells and reverse-transcribed to cDNAs. Then the cDNAs were subjected for microarray screening with Affymetrix U133 Plus 2.0 array. Genechip scanner was applied to screen the hybridization signals. Genes differentially expressed between the BBS probands and controls were identified by using GCOS1.4 software with the standard of two-fold change (P<0.05) of expression.

RESULTSFifteen genes were up-regulated 2 or more fold and another 15 genes were down-regulated 2 or more fold in the BBS patients, among them 12 genes were related to signaling pathway and cell cycle by Gene Ontology (GO) analysis.

CONCLUSIONThe differentially expressed genes identified may correlate with the function or structure of cilia. Their roles in the BBS genesis need to be further studied.

Adult ; Bardet-Biedl Syndrome ; genetics ; metabolism ; Cells, Cultured ; Female ; Gene Expression Profiling ; Gene Expression Regulation ; Humans ; Leukocytes, Mononuclear ; metabolism ; Male ; Oligonucleotide Array Sequence Analysis ; Siblings

OBJECTIVETo analyze the effect of gold standard, blind comparison and different cut-points choosing on screening techniques assessment, and to promote the application of evidence-based medicine theory in screening study.

METHODSA screening study for cervical cancer in rural China in 1999, where 1997 women had been tested for pathology as gold standard and simulating situations without gold standard, blind comparison and under different cut-points. Indices such as detectable rate, sensitivity and specificity were calculated for each technique. Receiver operating characteristics (ROC) curves were drawn and areas under ROC curves between screening techniques were tested.

RESULTSWithout gold standard, diagnostic techniques could not be evaluated correctly, and without the blind comparison, the sensitivity and specificity of the tests would be subjectively increased. Furthermore, use of different cut-points led to different sensitivities and specificities of test.

CONCLUSIONSGold standard, blind comparison and perfect cut-points can improve the quality of screening test and drawing ROC curves is an effective way to confirm cut-points and evaluate diagnostic techniques. It is necessary to enforce the application of evidence-based medicine theory in scientific research.

Adult ; Clinical Laboratory Techniques ; methods ; Evaluation Studies as Topic ; Evidence-Based Medicine ; Female ; Humans ; Mass Screening ; Middle Aged ; ROC Curve ; Technology Assessment, Biomedical ; methods ; Uterine Cervical Neoplasms ; prevention & control