Prenatal screening and diagnosis of genetic deafness by microarray / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To evaluate a microarray-based mutation screening method for genetic deafness and its application in prenatal diagnosis.</p><p><b>METHODS</b>Mutation screening of common deafness genes was performed in pregnant women and volunteers spouses. Nine common mutations in four major deafness genes, GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA, were detected simultaneously by a microarray-based method. Genetic counseling was given based on their testing results.</p><p><b>RESULTS</b>5.11% of pregnant women carried at least one mutation. Among them, seven carried mutation in the mitochondria 12S rRNA gene and were offered aminoglycoside-induced ototoxicity warning. For other mutation carriers of GJB2 or SLC26A4 genes, additional mutation screening was performed in their husbands by direct sequencing. A total of 20 couples were at risk of giving birth to children with genetic deafness. Of five couples who selected to undergo prenatal diagnostic testing of the fetus, four were diagnosed as wild type or heterozygous for the tested genes and one as p.V37I/c.235delC compound heterozygous for GJB2.</p><p><b>CONCLUSIONS</b>DNA microarray is a quick, easy and reliable method to screen mutations in genetic deafness genes. Application of this method in prenatal screening and diagnosis might effectively reduce the occurrence of genetic deafness.</p>

Mechanism of inhibitory effect of intravenous immunoglobulin on neonatal umbilical cord blood lymphocytes / 中华儿科杂志

<p><b>OBJECTIVE</b>The expression of CD25, CD45RA, CD45RO on umbilical cord blood mononuclear cells (CBMCs) and CD3(+) T lymphocytes was investigated to explore the mechanism of immunosuppressive effects of intravenous immunoglobulin on neonatal immune function.</p><p><b>METHODS</b>Umbilical cord blood mononuclear cells and CD3(+) T lymphocytes isolated from 8 neonates were studied. The expression of CD25, CD45RA, CD45RO on umbilical cord blood mononuclear cells (CBMCs) and CD3(+) T lymphocytes induced with various stimuli of different combinations of IVIG and phytohemagglutinin (PHA) including (1) control group, (2) PHA activation group, (3) IVIG pre-inhibition group, (4) PHA pre-activation group, (5) PHA+IVIG group was measured with four-color immunofluorescence antibodies staining-flow cytometric technique. The results were also compared with peripheral blood mononuclear cells of 8 adults (PBMCs).</p><p><b>RESULTS</b>IVIG inhibited the PHA-induced proliferation of CBMCs as reflected by the decreased expression of CD25 and CD45RO. The amounts of CD25(+) and CD4(+)CD45RO(+) CBMCs reached 77.52% +/- 2.31% and 64.29% +/- 3.09% after PHA use. But a decreased response in CD25(+) (7.66% +/- 1.20% and 7.78% +/- 1.46%) and CD4(+)CD45RO(+) CBMC (3.18% +/- 1.90% and 3.11% +/- 0.08%) was observed when IVIG was added in both IVIG pre-inhibition group and PHA+IVIG group. As compared with PBMCs, IVIG failed to induce the increase of the expression of CD45RA in CBMCs whereas CD45RA(+) PBMCs increased from 54.93% +/- 3.63% to 72.77% +/- 0.39% in IVIG pre-inhibition group. Moreover, IVIG inhibited the expression of CD25 and CD45RO on cord blood CD3(+) T lymphocytes no matter whether they were activated with PHA or not. The amounts of CD25(+) and CD4(+)CD45RO(+) CD3(+) T lymphocytes reached 97.92% +/- 2.19% and 80.41% +/- 5.57% after PHA use. But a decreased response in CD25(+) CBMCs (77.29% +/- 0.63%, 51.48% +/- 1.85% and 62.73% +/- 1.24%) and CD4(+)CD45RO(+) CD3(+) T lymphocytes (35.47% +/- 2.55%, 40.14% +/- 1.16% and 36.41% +/- 2.96%) was observed when IVIG was added in IVIG pre-inhibition group, PHA pre-activation group and PHA+IVIG group, and the degree of inhibition of IVIG on cord blood CD3(+) T lymphocytes was much lower than that of CBMCs.</p><p><b>CONCLUSIONS</b>Cord blood T lymphocytes activation was inhibited by IVIG through the inhibition of CD25(+) CBMCs expression and the prevention of transformation from CD4(+)CD45RA(+) cells into CD4(+)CD45RO(+) cells. This IVIG-mediated suppression of activation in cord blood T cells may be derived from the indirect effect of other immune cells or molecules other than the direct effects on T cells. IVIG failed to induce the increase of expression of CD45RA in CBMCs, which may be related to the fact that majority of CBMCs were CD45RA(+) cells, but this may not rule out that the immunosuppressive effect of IVIG could be accomplished by the increase of CD45RA(+) cells in adult peripheral blood mononuclear cells. The suppressive effect of IVIG on CD4(+)CD45RO(+) T lymphocytes may account for its inhibitory effect on immunoglobulin production of neonates' B cells. Considering that naïve CD45RA(+) cells dominate in neonates and IVIG can inhibit transformation from CD4(+)CD45RA(+) cells into CD4(+)CD45RO(+) cells, it is recommended that IVIG should be used properly in neonates, otherwise it may deteriorate their poor immune function especially when it is used for prophylaxis or as a treatment of neonatal non-infectious diseases, and its immunosuppressive action will increase the susceptibility of neonates to infection.</p>

Reactivity and antigenic cross-reactivity of latex in children with allergic disorders / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the relationship between latex allergen and clinical presentation as well as allergenic cross-reactivity between latex and other allergens, to know the incidence of latex allergy in Chinese children and elucidate the allergenic cross-reactivity of latex with other allergens.</p><p><b>METHODS</b>Totally 265 children with allergic disorders were assayed with 13 international standard allergen agents by means of SPT.</p><p><b>RESULTS</b>In 79 children with latex allergenic SPT position, 53 were boys and 26 were girls with an average age of 5.6 years, and 14 cases had episodes occurred in winter, 14 cases in spring, 24 cases in summer, and 27 cases in autumn. Of them, 66 cases presented as asthma, 5 cases atopic skin disorders, 1 case anaphylactoid purpura, 1 case hives and 6 cases only had mild cough. Statistical analysis showed that the positive percentage of the latex SPT had no obvious relation with sex and age, but was higher in summers and autumns than in winters and springs (P < 0.01). Children with allergic symptoms had higher positive rate in latex allergenic SPT than those without them, that is, the positive percentage of the latex SPT significantly increased among children presenting with some allergic symptoms, such as asthma, hives and atopic skin disorders (P < 0.01). All the children with latex allergenic SPT position had cross-reactivity with acarid allergen, 62.0% approximately 43.0% with animal protein allergens including milk, cats, shrimp, dogs, eggs in the order of decreasing cross-reaction rate, and 10.1% - 3.8% with mold and plant farina allergens. But the cross-reactivity between latex and mold or tree farina I were not statistically significant.</p><p><b>CONCLUSION</b>Thirty percent of the children with allergic disorders were latex allergenic SPT positive. Latex allergenic SPT positive results were significantly correlative to allergic clinical presentation and season, while were not relative to sex and age. The cross-reactivity of latex with acarid was most common, followed by animal protein allergens, while the cross-reactivity with mold and plant farina allergen was rare.</p>

Clinical Significance of Changes of Interleukin-15 Levels in Children with Kawasaki Disease / 实用儿科临床杂志

Objective To explore the role of interleukin-15(Il-15)in pathogenesis of Kawasaki disease(KD)and its potential cli-nical value.Methods Thirty patients with KD were selected in Xinhua hospital from Oct.2004 to Jan.2006.The serum concentration of IL-15 was measured by enzyme linked immunosorbent assay(ELISA)in acute stage and convalescent stage of KD,and 30 children with low respiratory inflection and 20 healthy children were studied as controls.Results Serum IL-15 level in acute KD was significantly higher than that in normal control,and the two sides were remarkably different in statistics(q=25.64 P

The biomechanical study and clinical application of internal fixation with Kirschner wire placed in the nerval fossa of ulna for GartlandⅢsupracondylar fractures of humerus in children / 中华创伤杂志

Objective To perform a biomechanical study on and compare the stability of internal fixation with closed Kirschner wire in different spots from the epicondylus medialis to sulcus nervi ulnaris and epicondylus lateralis of humerus in the treatment of GartlandⅢsupracondylar fractures of humerus in children in order to provide basis for avoiding cubitus varus in clinic.Methods Twenty models of su- pracondylar fractures were made from ten humerus samples,then divided into two groups(group A and group B).They were fixed with closed Kirschner'wires.Ulnar Kirschner wire varied.In group A five spots were selected averagely from the epicondylus medialis to the sulcus nervi ulnaris.Kirschner wires entered from one of the five spots into another spot of humerus.In group B Kirschner wires entered defferent spots of humerus from the central spot of sulcus nervi ulnaris.Biomechanical tests were carried out,such as axial load,axial displacement,stress intensity,axial rigidity and anti-twisty ability.Forty-six children with Gart- landⅢsupracondylar fracture of humerus were treated and followed up for more than one year.Results In beth groups,with the angle of Kirschner wires and fracture side increasing,the strain and the vertical displacement decreased,the stress intensity and the axial rigidity increased,and the anti-twists ability was enhanced.There was statistic difference(P＜0.05).The follow-up of the 46 patients showed the elbow joint function recovered well with no cubitus varus malformation.Conclusion Internal fixation with closed Kirschner wires in sulcus nervi ulnaris from the epicondylus medialis and the epicondylns lateralis of humerus for GartlandⅢsupracondylar fracture of humerus in children has the advantages of enhancing bio- mechanical stability,effective prevention of secondary replacement of outlying black of the fracture and a- voidance of cubitus varus.It can be widely used clinically.

Reactivity and Antigenic Cross - Reactivity of Cat Fur or Dog Fur in Children with Allergic Disorders / 实用儿科临床杂志

Objective To explore the relationship between cat fur or dog fur allergens and clinical presentation, as well as allergenic cross-reactivity between cat fur or dog fur allergens and other allergens. Methods Totally 548 children with allergic disorders were assayed with 13 international standard allergen agents by means of SPT. The results were denominated according to the size of skin areola or welt, reference histamine as positive, isotonic Na chloride as negative. Results In 143 children with cat fur allergenic SPT position, 98 cases were boys and 45 cases were girls with an average age of 5. 84 years. In 96 children with dog fur allergenic SPT positive,60 cases were boys and 36 cases were girls with an average age of 6.06 years. The most had occurred in summer. Of them,a large number of cases presented asthma,secondly presented mild cough. Besides, the cross- reactivity of cat fur and dog fur allergenic SPT positive in 64 cases with acarid was most common, followed by latex, which exceeded animal protein, while the cross - reactivity of mold, plant farina and chomophyte allergens were rare. Conclusions About 20% children with allergic disorders are cat fur or dog fur allergenic SPT positive. Cat fur or dog fur allergenic SPT positive results are significantly correlative to age and season, however they are not relative.to sex. Cat fur or dog fur allergens exist correlations with other allergens.

Effects of Clara Cell Secretary Protein in Modulating Lung Inflammatory and Immune Responses to Respiratory Syncytial Virus Infection / 实用儿科临床杂志

Objective To determine a possible role for Clara cell secretary protein(CCSP)during acute RSV infection.Method CCSP-deficient [CCSP (-/-)]and wild-type (WT) mice were intratracheally infected with RSV and the lung inflammatory response to RSV infection were assessed.Results RSV-F gene expression increased in the lungs of CCSP (-/-) mice compared to WT mice following RSV infection, consistent with increased viral persistence. Lung inflammation was significantly worsened in CCSP (-/-) mice compared to WT mice after RSV infection. Th2 cytokines and neutrophil chemokines increased in the lungs of CCSP (-/-) mice following RSV infection.Conclusion These findings suggest that lack of CCSP may promote the inflammatory and Th2 immune response to RSV infection.