Clinical features and genetic analysis of a pedigree affected with non-muscle myosin heavy chain 9 gene related disease / 中华医学遗传学杂志

OBJECTIVE@#To identify the mutation type of non-muscle myosin heavy chain 9 (MYH9) gene and investigate the clinical features of a pedigree affected with MYH9 gene-related disease.@*METHODS@#Peripheral blood samples of the proband and his family members were collected. Routine blood tests were performed, which included platelet counting and Wright's staining to observe the granulocyte inclusions and giant platelets. PCR was used to amplify exons 2, 17, 27, 31, 39 and 41 of the MYH9 gene, and the mutation site was determined by Sanger sequencing.@*RESULTS@#All patients from the pedigree presented a typical triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. In addition, two patients had nephritis and cataract. All affected members carried a heterozygous missense mutation of c.5521G>A (p.glu1841Lys) in exon 39 of the MYH9 gene. The same mutation was not found among healthy members of the pedigree and the controls.@*CONCLUSION@#The c.5521G>A (p.Glu1841Lys) mutation in the MYH9 gene probably underlies the MYH9-related disease in this pedigree.

Expression and significance of DNA-dependent protein kinase in human laryngeal squamous cell carcinoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the expression of DNA-dependent protein kinase (DNA-PK) in human laryngeal squamous cell carcinoma (LSCC) and normal laryngeal mucosa (NLM), and to analysize the relationship between the expression and the clinicopathologic parameters of LSCC.@*METHOD@#Immunohistochemical technique (Envision) was used to detect the expression of DNA-PK in 64 cases of LSCC and 15 cases of NLM. To investigate an investigation was conducted on the relationship between the expression and clinico-pathological features of LSCC.@*RESULT@#DNA-PK was lowly expressed in NLM and highly expressed in LSCC,the positive rate of DNA-PK expression was 26.67% (4/15), 78.13% (50/64), respectively, and there was significant different difference between the two groups (P 0.05).@*CONCLUSION@#DNA-PK may be involved in disease development of LSCC.

Dynamic changes of tear fluid matrix metralloproteinase-9 within 1 year after laser in situ keratomileusis / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the dynamic changes of matrix metalloproteinase-9 (MMP-9) level in tear fluid within 12 months after laser in situ keratomileusis (LASIK).</p><p><b>METHODS</b>Twenty-two myopic patients undergoing uneventful LASIK were enrolled in this study. Tear fluid samples were collected from the patients for measurements of MMP-9 level using Western blotting preoperatively, at 7 and 14 days, and at 1, 2, 3, 6, and 12 months after the surgery.</p><p><b>RESULTS</b>MMP-9 concentrations in the tear fluid of post-LASIK patients showed a time-dependent variation pattern. MMP-9 reached its peak level in the tear fluid at 14 days postoperatively, which was 2.70 times the preoperative level; it gradually decreased thereafter but was still 1.38 times the preoperative level at 12 months after the surgery.</p><p><b>CONCLUSIONS</b>MMP-9 concentrations in the tear fluid of post-LASIK patients show a time-dependent variation pattern and remains higher than the preoperative level even at 12 months after the surgery, suggesting that corneal wound healing after LASIK lasts for more than 12 months.</p>

Changes of global gene expression in lens epithelial cells of human age-related cataract / 中国病理生理杂志

AIM: To identify the differences of gene expression between human age-related cataract and clear lenses. METHODS: The RNA were extracted from human age related cataract and clear lens epithelial cells, labeled with cy3/cy5 as probes, then were hybridized to cDNA chip containing 8 064 genes. The differential expressions of the genes were screened. Furthermore, a primary classification of these genes function was given. The expression levels of the identified genes were further evaluated by real time polymerase chain reaction. RESULTS: 286 genes expression were observed to increase and 438 genes expression were observed to decrease in cataractous lens epithelial cells as compared with normal lens. According to functional analysis, the changed genes in cataract lens are associated with lens structural components, cytoskeleton, cell cycle, apoptosis and stress responses. CONCLUSION: These data suggest that there are differences in gene expression between cataract and clear human lens epithelial cells. The majority of genes changed in cataract exhibited decreased expression. Processes associated with the down-regulated genes may reflect the inability of the lens to maintain its homeostasis and transparency.