Early-onset Parkinson′s disease caused by 22q11.2 deletion: a case report / 中华神经科杂志

Many pathogenic genes have been identified in early-onset Parkinson′s disease, but the early-onset Parkinson′s disease with 22q11.2 deletion has not been reported in Chinese. A case of early-onset Parkinson′s disease with 22q11.2 deletion was confirmed by whole-exome sequencing-based copy number variation detection in Fujian Medical University Union Hospital. This article reports its clinical characteristics and discusses its pathogenesis, diagnosis and treatment management.

Analysis on the clinical outcomes of idiopathic sudden sensorineural hearing loss using the EuroQol 5-Dimension 3-Level questionnaire / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the applicability of EuroQol 5-Dimension 3-Level questionnaire (Chinese Version 1.0) (EQ-5D-3L) in the assessment of life quality of patients with idopathic sudden hearing loss.@*METHOD@#In this retrospect study, the EQ-5D-3L was assigned to 60 patients with idopathic sudden hearing loss before and after drug therapy. Audiometry examinations were undertaken and concomitant symptoms were recorded. A Wilcoxon rank sum test was applicated to the comparisons of results of EQ-5D-3L before and after the treatment, a t-test for results of EQ-VAS and a Kappa measurement for the consistency of certain dimension correlated with the symptoms.@*RESULT@#Sixty patients completed the five questions and visual analog scale of the EQ-5D. A statistically significant changes of pain/discomfort, anxiety/depression before and after the treatment were observed (P 0.05). The dimension of pain/discomfort was in agreement with the concomitant symptoms. And the result of EQ-VAS was in agreement with the therapeutic outcome.@*CONCLUSION@#It is suitable for the EQ-5D to be a general health measure with sensitivity to clinical change in idiopathic sudden sensorineural hearing loss, which monitors the patients' outcomes.

MRI findings of intracranial venous sinus thrombosis and brain parenchymal lesions / 中国脑血管病杂志

Objective To investigate the findings and prognosis of head MRI and brain parenchymal lesions in patients with intracranial venous sinus thrombosis. Methods The clinical manifestations and imaging data of 41 patients with intracranial venous sinus thrombosis were analyzed retrospectively. According to the head MRI,the patients were divided into a brain parenchymal lesion positive group (n = 21)and a negative group (n =20). The clinical manifestations and the difference of the affected venous sinus in patients of both groups were analyzed. Results The proportion of dehydration,epilepsy,motor disorders,and psychiatric symptoms in the positive group were 28.6% (n =6)vs. 0% (n =0),57. 1% (n =12)vs. 15. 0%(n = 3),47. 6% (n = 10)vs. 5. 0% (n = 1),and 33. 3% (n = 7)vs. 5. 0% (n = 1),respectively. There were significant differences (all P < 0. 05). The proportion of the occurrence of superior sagittal sinus thrombosis in the positive group was lower than that in the negative group (47. 6% [n = 10]vs. 80. 0%[n = 16];P = 0. 031). At discharge,the proportion of complete recovery (modified Rankin score 0 -1)in the positive group was lower than that in the negative group (71. 4% [n = 15]vs. 100% [n = 20];P =0. 032). Conclusion Compare with the clinical symptoms of the positive patients,the patients with intracranial venous sinus thrombosis and those with negative brain parenchymal lesions are relatively minor,their prognoses are better,and the thrombi are more involved in superior sagittal sinus.

Clinical analysis of 38 cases of petrous apex cholesteatoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the clinical characteristics, diagnosis method and treatment of petrous apex cholesteatoma.@*METHOD@#A retrospective analysis was taken with respects to the clinical characteristics, diagnosis and surgical management of 38 patients who underwent surgery for petrous apex cholesteatoma in our department.@*RESULT@#(1)31 patients had unilateral hearing loss and facial paralysis of different degree, 27 patients were firstly characterized with hearing loss, and followed by facial paralysis. 6 cases had facial paralysis as the main performance. (2)17 patients had syndrome of tinnitus, and 15 patients had syndrome of vertigo and 4 cases of severe pain of ear. (3)All patients had petrous bone destroy with high resolution CT scan, while MRI suggests the presence of pathological changes in petrous apex. (4)All patients were taken surgeries to remove the lesion, and translabyrinth approach was chosen for 23 patients, middle cranial fossa approach is 12, while 3 case has choose endoscopic approach. 8 cases were operated with facial nerve decompression. 7 cases was taken end to end anastomosis. 3 cases of great auricular nerve transplantation. There is no recurrence in follow-up of 1 years to 2 years.@*CONCLUSION@#The clinical manifestations of petrous apex cholesteatoma lack specificity, and high resolution CT and MRI has important value in the diagnosis of petrous apex cholesteatoma. The strategy of surgical operation should be taken according to the classification, location of petrous apex cholesteatoma as well as hearing level and facial nerve function with patients.

Study on delivery efficiency and cytotoxicity of Hela cells with mPEG-PLGA-BSA-FITC-NPs nanocarrier / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To construct and obtain ideal protein delivery vectors by researching the delivery efficiency and cytotoxicity to Hela cells using mPEG-PLGA-BSA-FITC-NPs.@*METHOD@#The mPEG-PLGA nanoparticle was obtained through surface modification of PLGA with PEG, and deliver BSA-FITC into Hela cells in vitro. The positive cells were counted by Laser scanning confocal microscopy and the survival rate of Hela cells was calculated by MTT assay at different time points.@*RESULT@#mPEG-PLGA-BSA-FITC-NPs shows the classic nanometer size, and the encapsulation efficiency reached 51. 2%. At the same time, the nanoparticles possess characteristics of slow release. By optimizing the delivery conditions, the highest efficiency of mPEG-PLGA-BSA-FITC-NPs was above 65.2%, and the cellular viability was about 85.7%.@*CONCLUSION@#mPEG-PLGA-BSA-FITC-NPs nanoparticles can successfully carry the target protein into cells as safe and effective as novel delivery materials of protein in vitro, and has shown slow release characteristics. The mPEG-PLGA-BSA-FITC-NPs provide ideal delivery vector for future application in clinical treatment of disease using nano-materials.

Prooxidant activities of different doses of naringenin and its regulatory effect on the growth of nasopharyn-geal carcinoma CNE2 cells / 医学研究生学报

Objective Naringenin has a vast prospect of application because of its important biological activities .This study aims to explore the influence of different concentrations of naringenin on the growth of nasopharyngeal carcinoma CNE 2 cells and its ac-tion mechanisms. Methods Using the MTT method, we measured the effects of naringenin on the growth of CNE 2 cells after treated at the concentrations of 0, 0.005, 0.01, 0.02, 0.04, 0.06, 0.08, 0.1, 0.2, 0.4, and 0.8 mg/mL for 24, 48, and 72 hours.At 48 hours, we observed changes in the cycle of the cells treated with naringenin at 0, 0.02 and 0.04 mg/mL by flow cytometry, in the ap-optosis of the cells by Hochest 33258 staining and flow cytometry , in the level of reactive oxygen species ( ROS) in the cells by DCFH-DA staining, and in the mRNA expressions of C-fos, Bax and Bcl-2 by qPCR. Results Compared with the control group , naringe-nin at 0.02 and 0.04 mg/mL induced a low-level rise of ROS in the CNE2 cells (MFI:5186 ±183.50 and 5508 ±155.37, P<0.05), up-regulated the expression of C-fos (P<0.05 or P<0.01), and promoted the proliferation of the cells .However, naringenin at relatively high concentrations of 0.2 and 0.4 mg/mL significantly elevated the level of ROS (MFI:10758 ±179.82 and 11241 ±1 114.45, P<0.01), up-regulated the expression of Bax (P<0.01), down-regulated that of Bcl-2 (P <0.01), induced the apoptosis (P<0.01 ) and suppressed the proliferation of CNE 2 cells. Conclusion Within a concentration range of 0.005-0.8 mg/mL, naringenin may have two-way effects on the growth of CNE2 cells, a carcinogenic effect at a relatively low dose and a good anticancer effect at a relatively high dose .