Langerhans cell histiocytosis in children with nasal congestion as chief complain: a case report / 临床耳鼻咽喉头颈外科杂志

Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder. Here, we report a rare case of multi-system LCH in a 20-month-old children presenting nasal congestion, fever, abnormal liver function, anemia, and skin damage. The radiograph computed tomography showed an osteolytic lesion in the lateral skull base with tumor extension. Pathological biopsy was performed, and the histopathologic diagnosis was LCH. A general review of LCH, including clinical manifestations, diagnosis, treatment, and prgognosis, is presented.

Construction of GJB2 mutations common in Chinese EGFP fusion protein vectors / 临床耳鼻咽喉头颈外科杂志

Objective:To construct GJB2 gene mutaitons common in Chinese EGFP fusion protein vectors, and to search for better way to study the mechanism of deletion mutaitons in GJB2 gene. Method: Non-fusion protein vectors of 235delC, 299-300 del AT and 176 del 16 bp were first made by point mutaiton methods in vitro. Then expression part of the upper 3 mutations were amplified by PCR and the PCR products were cloned into TA cloning vector. After cutting by restriction enzymes EcoRI/BamHI, three deletion mutaions were inserted into pEG-FP-N1 vector. Sequencing was used to verify the validity of the fusion protein vectors. HEK293 cells were trans-fected with the recombinant DNA samples by the liposome complex method. Results The recombined plasmids were highly expressed in HEK293 cells. Green fluorescence singals were distributed uniformly in cytoplasm. Conclusion; GJB2 mutations common in Chinese EGFP fusion protein vectors were constructed successfully. It may provide a better way to explore the reasons of nonsyndromic hearing loss common in Chinese.

Microsatellite alternation in laryngeal squamous cell carcinomas / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To examine the microsatellite instability and loss of heterozygosity in the pathogenic mechanism of laryngeal squamous cell carcinomas.@*METHOD@#Forty cases squamous cell carcinomas of larynx were analyzed by comparing tumorous tissues and normal tissues around with 3 microsatellite markers from chromosome 3, 5 and 11, using PCR and PGE-AgNO3 staining.@*RESULT@#Among the 40 cases of laryngeal squamous cell carcinomas, 87.5% (35/40) of samples showed microsatellite instability or loss of heterozygosity in one to three microsatellite markers. High frequent microsatellite abnormal occurred at D5S592, it was 70% (28/40). Then the mutation rate of D3s1228 was 52.5% (21/40).@*CONCLUSION@#Our study revealed that tumor suppressor genes nearby chromosome 3p14 and 5q23 regions related to the pathogenesis of squamous cell carcinomas of larynx. A correlation between microsatellite alternation and stage of the tumor were found in D3s1228 and D5s592 chromosome regions.

Construction of GJB2 mutations common in Chinese EGFP fusion protein vectors / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To construct GJB2 gene mutations common in Chinese EGFP fusion protein vectors, and to search for better way to study the mechanism of deletion mutations in GJB2 gene.@*METHOD@#Non-fusion protein vectors of 235delC, 299-300 del AT and 176 del 16 bp were first made by point mutation methods in vitro. Then expression part of the upper 3 mutations were amplified by PCR and the PCR products were cloned into TA cloning vector. After cutting by restriction enzymes EcoRI/BamHI, three deletion mutations were inserted into pEGFP-N1 vector. Sequencing was used to verify the validity of the fusion protein vectors. HEK293 cells were transfected with the recombinant DNA samples by the liposome complex method.@*RESULT@#The recombined plasmids were highly expressed in HEK293 cells. Green fluorescence signals were distributed uniformly in cytoplasm.@*CONCLUSION@#GJB2 mutations common in Chinese EGFP fusion protein vectors were constructed successfully. It may provide a better way to explore the reasons of nonsyndromic hearing loss common in Chinese.