家庭雾化吸入治疗反复喘息患儿疗效观察

目的探讨家庭雾化吸入治疗反复喘息患儿的疗效。方法前瞻性分析2012-2013年住院治疗的反复喘息患儿316例,按照是否进行家庭雾化规范治疗分为家庭雾化吸入组和非家庭雾化吸入组。观察家庭雾化吸入治疗反复喘息患儿,能否降低再次住院率、应用全身糖皮质激素及抗生素使用率。结果家庭雾化吸入组198例,随访1年当中其再次住院率为20.2%,门急诊就诊率为66.6%,应用全身糖皮质激素16.6%,应用抗生素65.6%,有症状天数14±5.2天,明显低于非家庭雾化吸入组,差异有统计学意义(P0.05),而两组间一年的医疗费用无统计学差异(P0.05)。结论家庭雾化吸入治疗,可降低反复喘息患儿再次住院率、门急诊就诊率、有症状天数及应用全身糖皮质激素、抗生素治疗次数而一年的医疗费用无增加。     

A comparison of antibodies to tissue transglutaminase with conventional serological tests in the diagnosis of coeliac disease

BACKGROUND: Tissue transglutaminase is now recognized as the autoantigen for antiendomysial antibodies. Antibodies to tissue transglutaminase have been proposed as a valuable test for coeliac disease. OBJECTIVE: To determine the value of antibodies to tissue transglutaminase in the diagnosis of coeliac disease in our outpatient population. METHODS: Patients who underwent serological tests for coeliac disease during the first 18 months of the tissue transglutaminase antibody assay were retrospectively identified from the regional serology laboratory database. Patients' symptoms were noted, along with serological results and duodenal histology in those patients who underwent duodenal biopsy.RESULTS In total, 586 patients were identified as having been serologically tested for coeliac disease, of whom 92 patients (33 men; mean age 51.7 years) had been followed up with duodenal biopsies. Of these 92 patients, 29 (31%; 14 men; mean age 52.5 years) had histological features of coeliac disease. The 63 patients with normal histology (19 men; mean age 51.8 years) acted as controls. Weight loss was more frequent in coeliac disease patients compared to controls (7 vs 5; P = 0.04) whereas the frequency of anaemia (P = 0.85) and diarrhoea (P = 0.74) did not differ significantly between the two groups. The sensitivity and specificity of tissue transglutaminase antibodies (86%; 84%) were compared to those for antiendomysial antibodies (90%; 98%) and antigliadin antibodies (76%; 79%). CONCLUSIONS: The diagnostic value of tissue transglutaminase antibodies was intermediate between that of antiendomysial antibodies and antigliadin antibodies. However, duodenal biopsy remains the gold standard diagnostic test for coeliac disease.     

Substrate for endothelial prostacyclin production in the presence of platelets exposed to collagen is derived from the platelets rather than the endothelium

Interactions between vascular endothelial cells and blood platelets have been investigated using a model microcirculation consisting of microcarrier beads colonized with human umbilical vein endothelial cells (HUVECs) and perfused with washed platelet suspensions. To simulate the effects of endothelial desquamation and exposure of subendothelium, fibrillar collagen in suspension was coinjected with the platelets. In this model, neither the passage of platelets alone nor collagen alone stimulated prostacyclin (PGI2) production by the HUVECs. Platelets activated by coinjection with collagen released thromboxane A2 (TXA2), and this was associated with the simultaneous production of PGI2 by the HUVECs. By means of double-isotope experiments with [3H]arachidonic acid (AA) incorporated into platelets and [14C]-AA into HUVECs, it was shown that all the PGI2 generated was derived from platelet AA and/or endoperoxides. This interpretation was strengthened by the finding that PGI2 production was not prevented by treatment of HUVECs with indomethacin followed by perfusion with collagen-stimulated platelets. AA metabolites in double-isotope label experiments were further characterized by reverse-phase chromatography, and it was shown that both cyclooxygenase and lipoxygenase products of the HUVECs were derived from platelet membrane lipid. Thrombin regularly produced transient PGI2 release, but showed rapid tachyphylaxis. Platelet-derived compounds including ADP, ATP, and platelet-activating factor (PAF) did not produce PGI2 release by HUVECs in this system. Thus, the transfer of AA and metabolites from collagen- stimulated platelets is likely to be the mechanism for PGI2 production in the context of minor degrees of endothelial desquamation.     

Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation

The objective is to estimate the risk of breast cancer in women who carry a deleterious BRCA1 or BRCA2 mutation, according to parental origin of mutation. We conducted a cohort study of women with a BRCA1 mutation (n = 1523) or BRCA2 mutation (n = 369) who had not been diagnosed with breast or ovarian cancer. For each woman, the pedigree was reviewed and the origin of the mutation was assigned as probable paternal or maternal. The hazard ratio (HR) for developing breast cancer in the follow‐up period was estimated for women with a paternal mutation compared to a maternal mutation. The risk of breast cancer was modestly higher in women with a paternal BRCA1 mutation compared to women with a maternal BRCA1 mutation (HR = 1.46; 95% CI = 0.99–2.16) but the difference was not significant (p = 0.06). The parental mutation origin did not affect the risk in women with a BRCA2 mutation. Our results are consistent with the hypothesis that there is an increased risk of breast cancer among women with a paternally inherited BRCA1 mutation compared to a maternally inherited mutation. However, the data are not sufficiently compelling to justify different screening recommendations for the two subgroups.     

To tell or not to tell – what to do about p.C282Y heterozygotes identified by HFE screening

Hereditary hemochromatosis (HH) is a common preventable disorder of iron overload that can result in liver cirrhosis and reduced lifespan. Most HH is due to homozygosity for the HFE p.C282Y substitution. We conducted a study of screening for p.C282Y in high schools where p.C282Y heterozygotes (CY) individuals were informed of their genotype by letter. We studied whether these individuals understood the implications of their genotype, whether this resulted in anxiety or reduced health perception and whether cascade testing was higher in families of CY than wild‐type homozygous (CC) individuals. We found 586 of 5757 (1 in 10) screened individuals were CY. One month after receiving their result, 83% correctly answered that they have one copy of p.C282Y. There was no adverse change in anxiety or health perception from prior to screening to 1 month after receiving results. Significantly more family members of CY individuals than CC individuals were informed about HH and had testing for HH. In conclusion, we found that informing CY individuals of their genotype does not increase anxiety and the implications are generally well understood. This leads to cascade testing in a minority of families. CY individuals should be informed of their genetic status when identified by population screening.     

Another chromosomal assignment for a simian virus 40 integration site in human cells.

Somatic cell hybrids derived from fusion of GM637, a human cell line transformed by simian virus 40, and mouse B82 cells were examined for simian virus 40 T antigen, V antigen, and viral DNA. All hybrid cell lines that contained viral DNA were T-antigen positive. Cells that did not have viral DNA were T-antigen negative. We determined that there is a single viral insertion in these hybrid cells. Correlation of T-antigen expression and viral DNA with the partial complements of the human genome retained in the hybrids shwed that the inserted viral genome is in human chromosome 8. The integrated viral DNA is stable; free viral DNA found in GM637 does not insert at other potential sites in the human genome.