CHARGE syndrome: a review of the literature / 中华整形外科杂志

CHARGE (Coloboma, Heart defects, Atresia of the choanal, Retarded growth and development, Genital abnormalities, Ear anomalies and deafness) syndrome is a combination of multiple congenital abnormality. With the previous data which has been reported, most cases of CHARGE syndrome were liked to heterozygous mutations in the gene CHD7, encoding the CHD (chromodomain helicase DNA binding domain) member CHD7. Owing to the misleading by common features with other anomaly syndromes and the insufficient CHARGE syndrome, the diagnostic rate of this disease is quite low. In this review authors summarize the recent developments in phenotypic features, diagnosis, aetiology and clinical management of CHARGE syndrome.

A comparative study on three methods of enzyme linked immunosorbent assay for detecting hepatitis B virus Pre S1 and S2 antigen / 国际检验医学杂志

Objective To compare the three different methods of enzyme linked immunosorbent assay(ELISA),to select the best method for clinical diagnosis and treatment.Methods Addcare ELISA800,TECAN freedom evolyzer and manual ELISA method were used to detect hepatitis B virus Pre S1 antigen(preS1Ag) hepatitis B virus Pre S2 antigen(preS2Ag) in confrontation control product samples and serum specimens from patients with HBV,and the results were analyzed by statistical methods.Results The batch precisions of the three methods to detect pre-S1Ag were 4.73%,5.38%,11.87%,the batch precisions of the three methods to detect pre-S2Ag were 4.91%,5.04%,11.75%.The inter batch precisions of the three methods to detect pre-S1Ag were 6.63%,7.90%,13.26%,the inter batch precisions of the three methods to detect pre-S2Ag were 6.74%,7.81%,12.59%.All the sensitivities were 100.00%.Conclusion All the three methods have good consistency,which could be used in the detection of Pre-S1Ag and Pre-S2Ag.The precision of Addcare ELISA800 is the best,which could further improve the quality of clinical testing.

Study on expression and clinical significance of ARD1 in nasopharyngeal carcinoma / 重庆医学

Objective To detect and explore the expression of ARD1 and its clinical significance in the nasopharyngeal in-flammatory tissue ,nasopharyngeal carcinoma group and its subgroups .Methods Expression of ARD1 in nasopharyngeal carcinoma (56 cases) and nasopharyngeal inflammatory tissue (20 cases) were detected by immunohistochemical staining SP ,the correlation between the expression of ARD1 and age ,gender ,histological grade ,TNM clinical stage and tumor metastasis were analysed . Results The positive expression rate of ARD1 were 10 .00% (2/20) ,55 .35% (31/56) in the nasopharyngeal inflammatory tissue and nasopharyngeal carcinoma ,respectively .The expression level of ARD1 in nasopharyngeal carcinoma was significantly higher than in the nasopharyngeal inflammatory tissue ,the difference was significant (P 0 .05) .Conclusion The expression of ARD1 is high in nasopharyngeal carcinoma ,and has a closely correlation with diffferentiation level of tumor ,which suggested that ARD1 may be involved in the the occurrence and development of nasopharyngeal carcinoma .However ,further research needs to be done for its mechanism in the nasopharyngeal car-cinoma .

The changes of ghrelin, growth hormone, growth hormone releasing hormone and their clinical significances in patients with chronic obstructive pulmonary disease / 中华内科杂志

Objective To investigate the changes of plasma ghrelin,growth hormone (GH) and growth hormone releasing hormone (GHRH) and gastric ghrelin in patients with chronic obstructive pulmonary disease( COPD ) and to explore their clinical significances.Methods Plasma ghrelin,GH,GHRH,TNFα,IL-6 and C reactive protein (CRP) were measured in 40 COPD patients and 20 controls with chronic bronchitis. Correlated factors of plasma ghrelin,TNFα,IL-6,CRP were analyzed. Body composition was assessed with bioelectrical impedance analysis.The expression of gastric ghrelin in patients with COPD was detected.Results Plasma ghrelin was higher in the underweight patients than in the normal weight patients and in the controls [ ( 1.78 ± 0.46 ) ng/L,( 1.39 ± 0.46 ) ng/L,( 1.36 ± 0.39 ) ng/L,respectively].Plasma GH was lower in the underweight patients than in the normal weight patients and in the controls [(4.12 ±0.83) μg,/L,(5.17 ±0.72) μg/L,(6.49 ± 1.13) μg/L,respectively].Plasma GHRH was lower in the underweight patients than in the normal weight patients and in the controls [ (20.43 ± 4.41 ) ng/L,(23.47 ± 3.97) ng/L,( 27.48 ± 10.06) ng/L,respectively ].Plasma ghrelin was higher in the underweight patients than in the controls ( P ＜ 0.01 ).Plasma ghrelin was higher in the underweight patients than in the normal weight patients with COPD.Plasma ghrelin (log transformed) was negatively correlated with BMI and percentage of body fat in the COPD patients.Plasma GHRH was positively correlated with ghrelin in the underweight patients ( r =0.515,P ＜ 0.05 ),while no correlation was found between plasma G H and ghrelin in the underweight patients (r =0.415,P ＞ 0.05 ).Plasma ghrelin was positively correlated with TNFα and IL-6 in the underweight patients.The gastric expression of ghrelin showed no evident difference between the patients with COPD and the controls.Conclusions The plasma GH in COPD patients may not be correlated with ghrelin.The plasma ghrelin level may be a useful indicator for malnutrition in COPD patients.Plasma ghrelin might be involved in the pathogenesis of CODP by affecting the body energy metabolism.

Correlation between serum 8-isoprostaglandin-F2α levels and clinical features in systemic sclerosis / 中华风湿病学杂志

Objective To investigate the oxidative status in systemic sclerosis (SSe) and explore the correlation between oxidative status and clinical features by measuring serum 8-isoprostaglandin-F2α (8-isoPGF2α) concentrations. Methods Serum 8-iso-PGF2α levels were detected by enzyme-linked immunosorbent assay (ELISA) in 51 SSe patients and 22 matched healthy controls. And in some SSc patients, serum homocysteic acid (Hey) concentrations were examined by cyclophorasc assay. Plasma yon Wilebrand factor (vWF) activity and serum immunoglobulin (lg) concentrations were detected by immunoturbidimetry.Antinuclear antibodies (ANA) and anti-endothelial antibodies (AECA) were detected by indirect immunofluorescence. Anti-sc170 antibody was detected by immunoblotting. Thirty-five out of 51 SSc patients were assessed for clinical features and laboratory parameters in order to analyze the correlations between 8-isoPGF2α levels and clinical features. Results Serum 8-iso-PGF2α levels were higher in sclerederma patients than in healthy controls. Values of 8-iso-PGF2α correlated with pulmonary involvement, such as diffusion capacity for carbon monoxide (DLCO) and pulmonary interstitial fibrosis by pulmonary high-resolution computed tomography (PhrCT), and correlated positively with renal vascular damage determined by the resistant index (RI) of renal glomeruli interlobular arteries. There was no correlation between 8-iso-PGF2αconcentrations and skin, peripheral vascular, heart, esophagus involvement and disease activity, diseasepattern, vWF,Hcy, lg, or autoantibedy profiles.Conclusion Increased Jevels of 8-iso-PGF2α, marker of oxidative stress, is correlated with pulmonary fibrosis and the extent of renal vascular damage in SSc and this supports the hypothesis that oxidative stress plays an important role in SSc pathogenesis.

Quantitative site of the related structures for approach of blocking the facial nerve / 中国组织工程研究

BACKGROUND: The blocking treatment can improve the clinic symptom of facial spasm. But the site, depth and the angle of puncturing point are very difficult to be defined, which will seriously infect the curative effect.OBJECTIVE: To study the applied anatomy of the related structures of facial muscle for blocking the facial nerve, and to provide anatomical bases for accurate puncturing point and preventing complications.DESIGN: An observation study based on cadavers and making the mimic puncture and measuring the correlative structures with anatomical method.SETTING: Department of anatomy in a medical college.PARTICIPANTS: Totally 28 adult male cadavers(56 sides) were used and the correlative index were measured.METHODS: The blocking point was located at the convergent point of the interior edge of cartilage of the external acoustic canal, the anterior fringe of mastoid processes and the posterior fringe of mandible ramus, the needle must be thrust vertically to the median sagittal plane. The puncturing needle stopped until it was barred. A longitudinal incision was made from the puncturing point to mandibula angle, and skin, superficial fascia were cut separately. Then carotid superficial fascia was cut from the posterior fringe of parotidean. The facial nerve trunk and the posterior auricular artery were preserved in site. A blunt isolation was made along its incision. Jugular glomus was appeared. Then the correlative index were measured and dealt with statistics method.MAIN OUTCOME MEASURES: The puncturing point, angle and depth,the distance between facial nerve trunk and puncturing point, the position relationship between facial nerve and puncturing needle and the distance relationship between facial nerve and principal structures adjacent to it.RESULTS: The blocking point was located at the convergent point of the interior edge of the external acoustic canal, the anterior fringe of mastoid processes and the posterior fringe of mandible ramus, the needle must be thrust vertically to the median sagittal plane. On the left side, the puncturing depth was (19.91 ± 0.09) mm, On the right side, the puncturing depth was(19.28±0. 10) mm.CONCLUSION: The experimental study could provide accurate puncturing point, angle and depth for blocking the facial nerve and bring the blocking treatment into full play.

Significance of combination of serum anti-nucleosome and anti-dsDNA antibodies in patients with systemic lupus erythematosus / 中国医师杂志

Objective To explore the significance of antinucleosome and anti-dsDNA antibodies on the disease flare and organ damage in patients with systemic lupus erythematosus(SLE).Methods Sixty-nine SLE patients were divided into disease flare group,stable group,lupus nephritis group and non-lupus nephritis group.Serum levels of anti-nucleosome antibody and anti-dsDNA antibody were measured with enzyme linked immunosorbent assay(ELISA) and indirect immunofluorescence(IIF),respectively.Results The positive rates of serum anti-nucleosome and anti-dsDNA antibodies were 55.10% and 47.82% respectively and the rates were significantly higher in disease flare group than those in disease stable group(P