The relationship between intralobar pulmonary sequestration syndrome with recurrent infection and basal stem cell proliferation / 天津医药

Objective To investigate the proliferation potential of the basal stem cells in intralobar pulmonary sequestration syndrome (ILS) for revealing the pathogenesis of ILS. Methods In this study, lung tissue samples were collected from healthy control subjects(n=4)and abnormal lung lobes of ILS patients(n=4).The pathological changes were compared by HE staining between the two groups.The proportion of goblet cells was compared by PAS staining between the two groups.The expression and secretion of MUC5AC and MUC5B were compared by immunofluorescence staining and real-time PCR between the two groups. The distribution of ciliated cells and the proliferation of basal cells were compared by immunofluorescence staining between the two groups.Results The abnormal lobe of ILS group was filled with inflammatory cells, and the airway epithelium was disrupted. The airway goblet cells of ILS were obviously hyperplastic. The mucin proteins of MUC5AC and MUC5B were hypersecretion in the abnormal lobe of ILS patients.KRT5-positive basal stem cells proliferated only slightly in ILS patients, although there was no significant difference in KRT5 expression between two groups. Conclusion These data suggest that the pathogenesis of ILS may be associated with defects in basal stem cell function. Restoring airway integrity by targeting epithelial regeneration can be a future non-surgical treatment for patients with ILS.

Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the RUNX2 gene mutation in two unrelated Chinese families with cleidocranial dysplasia (CCD), and to assess the feasibility of gene diagnosis for patients with CCD.</p><p><b>METHODS</b>Genomic DNA was isolated from peripheral blood samples of 4 patients and 4 healthy members in the two pedigrees as well as 102 unrelated healthy controls. All 7 coding exons and their flanking intronic sequences of the RUNX2 gene were amplified by PCR, then the PCR products were sequenced bi-directionally. The sequencing results were compared with normal sequences in GenBank to identify the mutation. The mutation was confirmed by RFLP with restriction endonuclease.</p><p><b>RESULTS</b>In one family, a novel heterozygous missense mutation c.346T to A (W116R) in exon 1 of the RUNX2 gene was detected in the two affected individuals, and the mutation was further confirmed with Bsr I restriction endonuclease digestion. In the other family, a novel nonsense mutation c.610A TO T (K204X) was identified in the two patients. No above sequence change was found in the 102 healthy controls.</p><p><b>CONCLUSION</b>Two novel RUNX2 mutations were found in two unrelated Chinese families with cleidocranial dysplasia. The identification of these mutations further extended the mutation spectrum of RUNX2 gene and will facilitate prenatal diagnosis and gene diagnosis of CCD.</p>