1.Causes of misdiagnosis and mistreatment of Dravet syndrome with SCN1A mutations
Xiaorong LIU ; Jinxing LAI ; Liu LIU ; Lu YU ; Hui SUN ; Jianghong SHU ; Bingmei LI ; Weiping LIAO
The Journal of Practical Medicine 2016;32(11):1839-1843
Objective To analyze the causes of misdiagnosis and mistreatment of Dravet syndrome. Methods Patients with Dravet syndrome diagnosed according to clinical features and SCN1A gene mutation detection were recruited within recent 3 years. The patients were grouped into correct diagnosis-treatment group and misdiagnosis-mistreatment group according to whether the patients had ever been misdiagnosed and mistreated by sodium channel blockers. The clinical features were compared between two groups. Results Thirty-five cases with Dravet syndrome were collected and the rate of misdiagnosis reached 40%, Nine cases were misdiagnosed as symptomatic focal epilepsy, 4 as Lennox-Gastaut syndrome and 1 as Doose syndrome. The average age of onset in misdiagnosis-mistreatment group was (5.50 ± 3.56) months,and the age of confirmed diagnosis was (83.57 ± 105.62) months. The percentage of abnormal EEG, onset seizure with partial seizure, the seizure frequency within the first year from onset, onset with afebrile seizure, patients with status epilepticus or cluster seizures was higher in misdiagnosis-mistreatment group but it showed no significant statistical significance when compared with that of correct diagnosis-treatment group. The percentage of patients with mental retardation and focal neurological signs was significantly higher in misdiagnosis-mistreatment group (P=0.005 and 0.002, respectively). Conclusions Dravet syndrome is frequently misdiagnosed as symptomatic focal epilepsy. The appearance of focal neurological signs and mental retardation before confirmed diagnosis are important factors for misdiagnosis. Gene mutation screening will be helpful for differential diagnosis of Dravet syndrome.
2.In vitro study on mesothelin antibody-tagged nanoprobe targeting human pancreatic cell line BxPC3
Mingzhi LU ; Wenjun LE ; Shaobin CUI ; Bingmei SUN ; Bingdi CHEN ; Chengwei SHAO
Chinese Journal of Pancreatology 2014;14(6):389-391
Objective To observe the targeted function of a mesothelin antibody modified nanoprobe in human pancreatic cancer BxPC3 cell.Methods The Fe3O4@SiO2 nanoprobe was prepared by St(o)ber method,and then quantum dots (CdTe) and mesothelin antibody was crosslinked to obtain the properties of targeting and fluorescent.Fluorescent nano Fe3O4@SiO2 probes and BxPC3 cells were incubated in vitro for 30 min.Its targeting performance was tested by the CCD imaging system and magnetic separation technology.HepG-2 and K562 cells with low expression of mesothelin were selected as reference cells.Results This preparation method of nanoprobe could produce a uniform and narrow distribution particle with particle size mainly ranging from 120 to 140 nm.The cell adsorption experiments showed that the adsorption efficiency of BxPC3,HepG-2 and K562 by nanoprobe without crosslinking antibody were less than 20%,as a non-specific adsorption; and the adsorption efficiency of BxPC3,HepG-2 and K562 by crosslinking mesothelin antibody nanoprobe were (53.9 ± 1.8) %,(8.0 ± 2.1) % and (8.9 ± 2.3) % respectively,and the adsorption capacity with BxPC3 was significantly increased.Conclusions The nanoprobe modified by mesothelin antibody can effectively recognize BxPC3 cells which highly expressing mesothelin.
3. HEAD-US-C quantitative ultrasound assessment scale in evaluation of joint damage in patients with moderate or severe hemophilia A received on-demand versus prophylaxis replacement therapy
Jun LI ; Wei LIU ; Xinjuan GUO ; Xiaoling DING ; Bingmei LYU ; Jing XIAO ; Qingli SUN ; Dongshuang LI ; Wenfeng ZHANG ; Jinchong ZHONG ; Changping LI ; Renchi YANG
Chinese Journal of Hematology 2018;39(10):817-821
Objective:
To explore the evaluation of joint injury by HEAD-US-C (Hemophilic Early Arthropathy Detection with UltraSound in China, HEAD-US-C) in patients with moderate or severe hemophilia A treated with prophylaxis
4. Clinical application and optimization of HEAD-US quantitative ultrasound assessment scale for hemophilic arthropathy
Jun LI ; Xinjuan GUO ; Xiaoling DING ; Bingmei LYU ; Jing XIAO ; Qingli SUN ; Dongshuang LI ; Wenfeng ZHANG ; Jinchong ZHOU ; Changping LI ; Renchi YANG
Chinese Journal of Hematology 2018;39(2):132-136
Objective:
To assess the feasibility of HEAD-US scale in the clinical application of hemophilic arthropathy (HA) and propose an optimized ultrasound scoring system.
Methods:
From July 2015 to August 2017, 1 035 joints ultrasonographic examinations were performed in 91 patients. Melchiorre, HEAD-US (Hemophilic Early Arthropathy Detection with UltraSound) and HEAD-US-C (HEAD-US in China) scale scores were used respectively to analyze the results. The correlations between three ultrasound scales and Hemophilia Joint Health Scores (HJHS) were evaluated. The sensitivity differences of the above Ultrasonic scoring systems in evaluation of HA were compared.
Results:
All the 91 patients were male, with median age of 16 (4-55) years old, including 86 cases of hemophilia A and 5 cases hemophilia B. The median (
5.Ultrasonographic characteristics of haemophilic arthropathy in the knee joints.
Jun LI ; Xiaoling DING ; Bingmei LYU ; Feng XUE ; Qingli SUN ; Xinjuan GUO ; Dongshuang LI ; Wenfeng ZHANG ; Wenjun ZHANG ; Yuxia XU ; Renchi YANG
Chinese Journal of Hematology 2014;35(5):434-437
OBJECTIVETo investigate the characteristics of ultrasonography in haemophilic arthropathy in knee joints.
METHODSThe knee joints (n=135) of 68 patients with haemophilia A (n=59) or haemophilia B (n=9) were consecutively evaluated with ultrasonography and scored according to MELCHIORRE ultrasound score. The correlations between ultrasound score and the number of knee joint bleeding episodes, age, and World Federation Haemophilic orthopedic (WFHO) score were studied.
RESULTS68 male patients with median age 20 (3-48) years old were enrolled in this study. The prevalences of hydrops articuli, fibrotic septa, synovial hypertrophy, synovial hypertrophy with angiogenesis, haemosiderin deposition were 39.2% (53/135), 3.0% (4/135), 77.0% (104/135), 49.6% (67/135), 37.8% (51/135), respectively; and the prevalences of cartilage damage, bone erosion, bone remodeling, osteophytes were 63.7% (86/135), 48.1% (65/135), 3.0% (4/135), 13.3% (18/135) respectively. The average ultrasound score was 5.21[95% CI (4.50-5.93)]. The ultrasound score of knees joints according to age 0-6, 7-18 and > 18 years old groups were 0.63[95% CI (0.15-1.10)], 2.88[95% CI (1.90-3.85)], 7.83[95% CI (7.07-8.60)], respectively; and the difference among groups was statistically significant (P<0.01). The significant difference of ultrasound score was not found among moderate, mild and severe haemophilia (F=0.90, P=0.914). A significant positive correlation between ultrasound and WFHO scores was demonstrated (r=0.745, P<0.01). The ultrasound score increased significantly with the increase of number of knee bleed Episodes (F=49.926, P<0.01).
CONCLUSIONThe main characteristics of ultrasonography of haemophilic arthropathy in knee joints were identified as followings: synovial hypertrophy, cartilage damage, bone erosion, hydrops articuli, and haemosiderin deposition. Ultrasonography was a fast, effective, safe, and available inspection method in assessment of haemophilic arthropathy.
Adolescent ; Adult ; Child ; Child, Preschool ; Hemophilia A ; complications ; Hemophilia B ; complications ; Humans ; Joint Diseases ; diagnostic imaging ; etiology ; Knee Joint ; diagnostic imaging ; Male ; Middle Aged ; Ultrasonography ; Young Adult