1.Clinical features and misdiagnosis analysis of six children MELAS syndrome patients
Journal of Chinese Physician 2014;16(9):1224-1226
Objective To explore clinical features and misdiagnosis reasons in mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes (MELAS) syndrome.Methods The results of clinical data,brain magnetic resonance imaging (MRI),and the course of diagnosis were analyzed in 6 patients with MELAS.Results (1) Clinical features:headache and vomiting were the starting symptoms in 4 of 6 cases,and developmental delay was initial symptoms in 2 of 6 cases.Marasmus occurred in 6 cases,seizure in 5 cases,fever in 3 cases,and hirsutism and visual impairment in 2 cases.(2) Experimental results:blood lactic acid was higher in 6 (4.28 ~ 10.3 mmol/L).(3) Brain MRI:6 patients had abnormal signals in parietal,occipital,temporal lobe,which were not in accordance with vascular distribution.(4) Molecular genetics:All the 6 patients had A3243G gene mutation.(5) Three patients were misdiagnosed for viral encephalitis,and 2 developmental retardation.Conclusions MELAS is characterized with developmental retardation,and repeated encephalitis attack.It is also misdiagnosed because of its variety of clinical features.If patients have high level of lactic acid and multiple MRI signal abnormalities of brain which are not in accordance with vascular distribution,MELAS should be suspected of.Genetic examination and muscle biopsy are especially important in the diagnosis of MELAS.
2.The influence factors of cognitive impairment in epilepsy children with less than six years old
Chinese Journal of Postgraduates of Medicine 2016;39(8):721-723
Objective To investigate the influence factors of cognitive impairment in epilepsy children with less than 6 years old. Methods Eighty-nine epilepsy children with less than 6 years old were selected. The neuropsychological detection was tested by Gesell developmental diagnostic scale (GDDS), and head imaging examination (CT or MRI) and ambulatory electroencephalogram (EGG) were checked. Results The scores of adaptive behavior, big sports behavior, fine motor behavior, language behavior and personal- social behavior were (82.98 ± 14.02), (85.86 ± 13.79), (83.14 ± 13.44), (84.75 ± 3.29) and (84.99 ± 14.37) scores, the average development quotient of the children with epilepsy were greater than 75 scores, and there were no statistical differences among them (P > 0.05). According to the test results of adaptive behavior, big sports behavior, fine motor behavior, language behavior and personal-social behavior, the rates of developmental delay children were 21.35% (19/89), 19.10% (17/89), 16.85% (15/89), 24.72% (22/89) and 22.47% (20/89), and the rates of moderate to severe developmental delay were 3.37% (3/89), 3.37% (3/89), 4.49% (4/89), 3.37% (3/89) and 3.37%(3/89). Multivariate analysis results showed that first onset age of epilepsy and head imaging performance were correlated with adaptive behavior, big sports behavior, fine motor behavior and personal-social behavior (P < 0.05). Conclusions The first onset age of epilepsy and head imaging performances are the major factors in cognitive performance in epilepsy children with less than 6 years old, so clinical attention should be paid to improve the prognosis of cognitive outcome of epilepsy children, and improve their life quality.
3.Genetic contribution to early-onset epileptic encephalopathies
Journal of Clinical Pediatrics 2013;(6):578-583
10.3969/j.issn.1000-3606.2013.06.022
4.Diagnosis and emergency treatment of increased intracraniai pressure in children
Chinese Pediatric Emergency Medicine 2011;18(5):397-399,402
Increased intracranial pressure is one of the most severe complications with significant mortality in children,so early diagnosis and treatment of this disorder is critical to save the patient's life.This article reviews etiologies,pathophysiology,and general principles of diagnosis and management of increased intracranial pressure.Based on primary diseases and clinical presentations,the goal of therapeutic strategy is to decrease intracranial pressure,avoid neurologic sequelae,and improve the outcome in patients.
5.The relationship between vaccination and febrile seizure、GEFS+ and Dravet syndrome
International Journal of Pediatrics 2016;43(12):916-919
Vaccination in children suffering neurological diseases is a troublesome issue that people es-pecially pediatricians are reluctant to mention. Due to worrying about the emergence of adverse reactions and concerning on the heat induced seizure,doctors and parents tend to cancel or do not recommend these children to be vaccinated. Additionally,the heat sensitive seizures,such as febrile seizure( FS) ,generalized epilepsy with fe-brile seizure plus(GEFS+),Dravet syndrome account for the largest proportion of the seizure related disease and epilepsy syndrome. Their pathogenesis has been proved relating to the mutation of SCN gene of the sodium channel. For children with FS,GEFS+,and Dravet syndrome,vaccination may lead to fever,which even may bring about convulsions,but it will not result in worse prognosis.
6.Hyperuricemia and metabolic syndrome:research advances
Fei YIN ; Xuechen LI ; Fei YE
Journal of International Pharmaceutical Research 2017;44(6):487-490,499
Hyperuricemia(HUA),which can induce oxidative stress,endothelial dysfunction,and inflammation,is closely relevant to the metabolic syndrome(MS),such as obesity,impaired fasting blood glucose,hyper-triglyceridemia,and hypertension. Moreover,HUA is of reciprocal causation with insulin resistance(IR). Here,for the prevention and treatment of metabolic diseases such as HUA and MS,the interaction and the regulatory mechanism between MS and HUA are summarized,and the situation that HUA is an important complication of MS is illustrated.
7.Screening for differentially expressed genes among human hepatocellular carcinomas,cirrhotic liver tissue and normal liver by genechip
Juan LIU ; Shukun YAO ; Fei YIN
Basic & Clinical Medicine 2006;0(01):-
Objective To compare gene expression profiles among hepatocellular carcinomas(HCC),cirrhotic liver tissue and normal liver and to analyze their biological information.Methods Total RNA was isolated from hepatocellular carcinomas,cirrhotic liver tissue and normal liver respectively,purified into mRNA by oligotex,and reverse-transcribed to synthetize two kinds of fluorescences(Cy3-dUTP,Cy5-dUTP) labeled cDNA probes.The targets were mixed together and hybridized with the genes on the genechip containing 4096 genes.The following comparisons were performed: hepatocellular carcinomas versus normal liver,cirrhotic liver versus normal liver.Genes that were differentially expressed between these groups were identified based on signal-to-noise ratios by using GenePix Pro3.0 software.Results 141 genes were found with close relation to HCCs,some of these genes were related to cell cycle and signal transduction,such as MCM7,YWHAH,among these,there are 23 genes whose expression tendency consistent with that of cirrhotic liver's.When compared with normal liver,there were 2 genes belong to metallothionein family downregulated in HCCs but upregulated in cirrhotic liver.Conclusion The inactivation of anticancer genes,the abnormality of metabolism related genes and the activation of cell proliferation cycle related genes may have a vital role in HCC.Research into these genes systematically may help to explore new markers of early diagnosisand to guide treatment proposal and to evaluate prognosis better.2007.27(1)
8.Clinical application of auricular cartilage in intact bridge tympanomastoidectomy
Shengjun WANG ; Xiaoyan HOU ; Fei YIN
Chinese Archives of Otolaryngology-Head and Neck Surgery 2017;24(7):355-357
OBJECTIVE To investigate and evaluate the effects of intact-bridge tympanoplasty using auricular cartilage in treating chronic otitis media. METHODS A retrospective review of 86 cases undergoing an intact-bridge tympanomastoidectomywas performed from July,2013 to May,2016.The auricular cartilage was placed on the attic and tympanic antrum entrance to reconstruct the attic. RESULTS The outcome of dry ear and well-epithelialized mastoid cavities was achieved after 4-6 weeks. After 6-month follow-up no recurrence occurred. The pure-tone average threshold improved by (25.4±6.3) dB HL after operation,and the mean air bone gap was elevated. CONCLUSION On the basis of combination of closed and open techniques,the IBM technique is a optimal cure strategy for chronic otitis media,which can not only remove the pathological changes thoroughly to prevent disease recurrence but also maximally improve the hearing of the diseased ear.The closure of attic with auricular cartilage can ensure the space of the ossicular chain.
9.Determination of expression of tyrosine protein kinase in hepatocellular carcinoma by tissue chip
Shukun YAO ; Junyan ZHAO ; Fei YIN
Chinese Journal of Hepatobiliary Surgery 2008;14(8):544-547
Objective To study the expression of tyrosine protein kinase in hepatocellular carcinoma(HCC)and observe the correlation between tyrosine protein kinase and clinical features.Methods A total of 30 cases with HCC were enrolled in this study.ERK,P38,C-jun,JAK2,STAT3 and STAT5 were detected by immunohistochemical method using tissue chip technology.Results The expression of ERK(0.220±0.033),P38(0.174±0.024),C-jun(0.183±0.064),JAK2(0.192±0.044),STAT3(0.197±0.078)and sTAT5(0.181±0.066)in HCC was significantly higher than that(0.065±0.028,0.058±0.028,0.042±0.016,0.070±0.030,0.052±0.024,0.052±0.023)in cirrhosis 1iver tissues(P<0.01).There was significantly positive correlation of the expression between ERK,C-jun,JAK2,STAT3 and STAT5(P<0.01 or P<0.05).But the expression of P38 was negatively correlated with ERK in the HCC tissues(r=-0.404,P<0.05).JAK2 had significant correlation with tumor differentiation.The expression of J AKz in stage Ⅲ was significantly higher than that in stage Ⅰ and Ⅱ cancer tissues.Conclusion There is important significance of the excessive activation of MAPK and JAK-STAT signaI transduction in hepatocellular carcinoma process.The unbalance of signal transduction might be one of the pathogenesis of tumor progress.
10.Oculo-cardiac reflex during ocular plasty
Fei YIN ; Jiaping YU ; Maoji CAI
Chinese Journal of Medical Aesthetics and Cosmetology 2001;0(03):-
Objective To observe the oculocardiac reflex during the ocular plasty and to study its possible mechanism. Methods A total of 132 cases were studied by dynamic electrocardiography to analyze the changing of heart rate before and after operations. Results Heart rate decreasing by over 10 times during operations was regarded as the positive standard of the oculocardiac reflex. Of all cases the oculocardiac reflex appeared in 41 cases and 53 times were observed including of continual two times happened in 6 cases. In all the reflex ,9 cases was observed in injection of anaesthetic, 5 cases in pulling eyelids, the orbicular muscle and the palpabralis muscle, 21 cases in resecting orbital fats,6 cases in stressing the eyeball after operations. The incidence of oculocardiac reflex was 31.1%. Conclusion Some steps in the process in ocular plasty are more possible to elicit the reflex, such as dragging peripheral eyeball muscles,stressing eyeball and pulling eyelid. The reflex will result in heart rate decreasing, heart rhythm and respiratory changing,even render heart to sudden stop . Therefore, we should operate gentlely and accurately,and also avoid overly stress on eyeball to elicit the oculocardiac reflex.