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.
Histiocytosis, Langerhans-Cell ; diagnosis ; Humans ; Infant ; Rare Diseases

OBJECTIVE: To investigate clinical application of head impulse test with video recording eye movements in the diagnosis of vertigo. METHOD: The video head impulse test(vHIT) was used to measure the eye saccades and velocity gain in 95 patients with vertigo which were divided into two groups, peripheral vertigo (47 cases) and central vertigo(48 cases); the characteristics of eye saccades and velocity gain of six semicircular canals in different patients with vertigo were analyzed, and were compared between the two groups. RESULT: The vHIT result in patients with peripheral vertigo: in 22 patients (23 affected ears) with Meniere's disease, 21 ears were abnormal (91. 3%); the vHIT results in 4 patients with vestibular schwannoma, 2 patients with vestibular neuritis, 5 patients with delayed endolymphatic hydrops, 6 patients with sudden hearing loss accompanied vertigo, and 8 patients with vestibular dysfunction, were abnormal with correct saccades and/or lower velocity gain of vHIT. The abnormal vHIT results were also found in 35 of 48 patients (72. 9%) with central vertigo, which including posterior cerebral circulation ischemia(7 patients), cerebral infarction/stroke(6 patients), and dizziness with vertigo(17 patients) and others(18 patients). Abnormal rate of vHIT in patients with peripheral vertigo was 95. 7% (45/47), which was significantly higher than that (72. 9%) in patients with central vertigo. CONCLUSION It is easy to perform the vHIT which without adverse reactions. We can record high-frequency characteristics of vestibular-ocular reflex among six semicircular canals through vHIT. The vHIT results which show the function of vestibular ocular reflex in different diseases with vertigo, can help discriminate peripheral vertigo from central vertigo, and it is a practical assessment method for vertigo.
Dizziness ; Endolymphatic Hydrops ; diagnosis ; Head Impulse Test ; Humans ; Meniere Disease ; diagnosis ; Neuroma, Acoustic ; diagnosis ; Reflex, Vestibulo-Ocular ; Saccades ; Semicircular Canals ; Vertigo ; diagnosis ; Vestibular Neuronitis ; diagnosis ; Video Recording

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.

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.
Carcinoma, Squamous Cell ; genetics ; pathology ; Genes, Tumor Suppressor ; Humans ; Laryngeal Neoplasms ; genetics ; pathology ; Loss of Heterozygosity ; Microsatellite Instability ; Neoplasm Staging

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.
Asian Continental Ancestry Group ; genetics ; Connexin 26 ; Connexins ; genetics ; Genetic Vectors ; Green Fluorescent Proteins ; genetics ; Humans ; Sequence Deletion