1.Clinical analysis of ketogenic diet for 25 children with infantile spasms
Chinese Journal of Applied Clinical Pediatrics 2015;30(7):532-534
Objective To assess the efficacy,compliance and safety of ketogenic diet (KD) for children with infantile spasms,thus to provide an effective basis for the treatment of infantile spasms.Methods Twenty-five patients with infantile spasms were treated with KD.The gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry (HPLC-MS/MS) were used,except for metabolic diseases,to detect the blood routine,urine,stool,blood Iipids,liver function,as well as electrocardiogram (ECG),electroencephalograph (EEG),ultrasound of the urinary system and other related checks of all patients.The KD antiepileptic drug therapy was given after all children were admitted to hospital,and KD started directly in all patients without fasting.The efficacy compliance and safety were followed up in this study.Results KD maintenance therapy for 1 month,3 mouths,6 months were given to 25 cases (100%,25/25 cases),to 22 cases (88%,22/25 cases),and to 10 cases (40%,10/25 cases),respectively.Among them 7 patients (28%,7/25 cases) were in complete control of seizures within 1 month.Up to Class Ⅱ,Ⅲ efficacy level accounted for 32% (8/25 cases),12% (3/25 cases),respectively.Thirteen cases of children had varying digestive symptoms,10 cases of them developed asymptomatic hypoglycemia,and 9 cases of children had sleep trouble during KD treatment,but after symptomatic treatment,children's adverse reactions almost subsided.Only 4 cases of children discontinued treatment due to adverse reactions.All children's seizures were fully controlled.Conclusions The effect of KD is sure in the treatment of infantile spasms.Although KD has some adverse reactions,but it can be tolerated;serious body organ dysfunction treated by KD + antiepileptic drugs combination therapy for 1 to 6 months is not found yet,so the therapy is worthy of promotion clinically.
2.Effect of melatonin on breast cancer and its mechanisms
Chinese Pharmacological Bulletin 1987;0(02):-
Melatonin is a bioactive substance primarily secreted by the pineal gland.Increasing evidences indicate that melatonin is effective in reducing breast cancer development.Melatonin exerts its anticarcinogenic actions through a variety of mechanisms.Melatonin suppresses estrogen receptor gene,modulates several estrogen dependent signal transductions,inhibits cell proliferation and impairs the metastatic capacity and so on.It has been suggested that enhanced endogenous melatonin secretion or melatonin treatment is beneficial for breast cancer patients.This review describes the mechanisms of melatonin on breast cancer and its possible application.
3.Clinical features and gene mutations analysis in 62 children with early - onset epileptic encephalopathy of un-known causes
Chunhui HU ; Longfei WANG ; Hua WANG
Chinese Journal of Applied Clinical Pediatrics 2016;31(5):371-375
Objective To study the clinical features and gene mutations of early - onset epileptic encephalo-pathy(EOEE)of unknown causes and to identify pathogenic mutations of EOEE by next generation sequencing. Methods The clinical data of 62 cases diagnosed with unexplained EOEE between June 2013 and June 2015 were ob-tained and analyzed. Specimens were collected from the selected children and their parents. Next generation sequencing was used to detect epilepsy - related genes,and Sanger sequencing was performed to verify the results and confirm the source of the parents,further to identify suspected pathogenic mutations of EOEE. Results Among 62 cases with unex-plained EOEE,37 cases(61% )were diagnosed as non - specific EOEE,17 cases(27% )with West syndrome,6 ca-ses(10% )with Dravet syndrome,1 case(1% )with Ohtahara syndrome,1 case(1% )with early myoclonic epileptic encephalopathy. The pathogenic mutations were not detected among 17 cases with West syndrome and the early myoclonic epileptic encephalopathy. Among 37 cases with non - specific EOEE,suspected pathogenic mutations were detected in 7 cases. Three cases of missense mutations for PCDH19 gene,1 case of frame - shift mutation and 1 case of splice site mutation for CDKL5 gene,1 case of denovo nonsense mutation for KCNQ2 gene,and 1 case of missense muta-tion for GRIN2A gene were detected. Among 6 children with Dravet syndrome,2 cases of frame - shift mutations and 1 case of missense mutation for SCN1A gene were detected,of which 2 cases were of frame - shift mutations,1 case was denovo mutation,1 case of missense mutation for SCN1A gene and 1 case of missense mutation for SCN1A combined with SCN9A gene were detected. One case of denovo nonsense mutation for STXBP1 gene was detected. After treatment, 22 cases with clinical seizures were under control,and 40 cases were out of control. Conclusions The clinical pheno-types for children with unexplained EOEE were varied. SCN1A,SCN9A,STXBP1,PCDH19,CDKL5,KCNQ2 and GRIN2A genes detected in China are in accordance with those reported internationally and some gene sites are denovo mutations which have not been reported. The SCN9A gene may be the new pathogenic mutation for Dravet syndrome. And the KCNQ2 gene nonsense mutation may be the lethal mutation.
4.Advances in personalized diagnosis and treatment of treatable genetic diseases of pediatric neurology in precision medicine period
Chunhui HU ; Longfei WANG ; Hua WANG
Chinese Journal of Applied Clinical Pediatrics 2016;31(12):951-955
The development of precision medicine in 21st century has accelerated a new area of medicine,bringing a precise project of diagnosis and treatment.The new techniques for genetic diseases including next generation sequencing and copy number variation detection technology have facilitated the diagnosis and treatment of genetic and rare diseases in children's neural system,providing a new directed therapies especially for creatine deficiency syndromes,pyridoxine dependent epilepsy,glucose transporter type 1 deficiency syndrome,malignant migrating partial seizures in infancy,GRIN2A-related early-onset epileptic encephalopathy,KCNQ2-related epilepsies.With the new area of precision medicine arrival,an epoch-making revolution for the diagnosis and treatment of genetic and rare diseases in children's neural system is coming towards us.
5.The Effect of VEGF on the Expression of Fas and FasL in Ischemic Brain Tissues
Yong LIU ; Mingjun HU ; Hua WANG
Journal of Chinese Physician 2001;0(10):-
Objective To explore the mechanism of VEGF treating cerebral ischemia. Methods A rat model of middle cerebral artery occlusion (MCAO) was set up by nylon suture embolization. The naked plasmid DNA encoding vascular endothelial growth factor(pUCCAGGS/hVEGF 165 ) was directly injected through skull into the ischemic areas of brain. After seven days the rats were killed. RT-PCR was used to measure the expression of VEGF mRNA in the brain tissues, and immunohistochemistry was appllied to detect the expression of VEGF, Fas and Fas L in the brain tissues. Results Compared with control group, VEGF expression significantly increased in the therapeutic group(P
6.Progress of the mechanism study of partial left ventriculectomy
Bo WANG ; Xiaonan HU ; Hua JING
Journal of Medical Postgraduates 2003;0(05):-
Partial left ventriculectomy(PLV),also named as left ventricular volume reduction or the Batista procedure,is gradually used as a new alternative method to treat end-stage heart disease.This article summarizes the progress of the mechanism of partial left ventriculectomy with rapid left ventricle reshaping and hemodynamics change and patho-physiological effect etc.
7.Influence of Zhibai Qianqing Decoction Combined with Levofloxacin on Sperm Quality of Chronic Prostatitis Patients
Yifei DONG ; Hua WANG ; Yueyue HU
Chinese Journal of Information on Traditional Chinese Medicine 2006;0(10):-
Objective To observe the influence of Zhibai Qianqing(ZBQQ) Decoction combined with Levofloxacin on sperm quality of chronic prostatitis(CP) patients and explore its possible mechanism through sperm apoptosis rate.Methods Fifty eight cases were divided into 2 groups randomly.Twenty eight cases were served with ZBQQ decoction combined with Levofloxacin(observe group),30 cases were treated by Levofloxacin tablets(control group).The curative effect of the two groups was compared one month later.All the cases underwent semen analysis.Sperm apoptosis rates were measured by TUNEL before and after the treatment.Results Sperm liquefaction time of CP group was significantly longer than the normal group(P0.05).The clinic cure rate of observe group was 35.71%,and overall effective rate was 85.71%,significantly higher than that of control group(P
8.Effect of Zuogui Pill on the Uterus and Vagina of Ovariectomized Female Rats
Journal of Traditional Chinese Medicine 1993;0(06):-
0.05).The number of vaginal folds and vessle of vaginal natural layers in the Zuogui Pill large dosage group were more than those in the model group(P0.05).Conclusion Zuogui Pill,the compound herbal formula for reinforcing the function of kidney,is not influential on the uterus of ovariectomized female rats.It can delay the vaginal deadness through increasing the local blood supply of ovariectomized rats.
9.The diagnostic and differential diagnostic value of video electroencephalography in infants less than 1-year-old with non-conclusion seizures
Yao DENG ; Chunhui HU ; Hua WANG
Chinese Pediatric Emergency Medicine 2016;23(2):96-99
Objective To discuss the clinical features of non-conclusion seizures(NCS)in infants less than 1 -year-old,and the diagnostic and differential diagnostic value of video electroencephalography (VEEG).Methods A total of 30 NCS patients were took the regular electroencephalography at the first 20 minutes before VEEG monitoring which continued 2 to 4 hours in order to compare the differences between the two monitoring methods,then all patients were taken follow-up after one month,two months,and three months.Results Three cases attacks(accounting for 10.0%)were found by regular electroencephalograph-y,while 23 attacks(accounting for 76.7%)were found by VEEG following no epileptic discharge,either.All patients were found to be corporality NCS,having no psychogenic NCS,among which,19 patients(accounting for 63.3%)were non epileptic tonic-closure seizures,including 2 patients always keeping eyes staring at somewhere,2 patients gritted teeth or grinned,1 patient often put head back,1 patient stretched the neck or necking down,2 patients shrug his shoulders,9 patients shook head,and another 2 always put forth his strength, with or without stiffness,limb jitter,or made face red;on the other,7 patients (accounting for 23.3%)were benign myoclonus,another 4(accounting for 13.3%)were benign non epileptic infant spasm,no other types were found.Nobody had any antiepileptic therapies,15 of them have no more attacks in less than one month,7 in two months,1 in three months,and another 7 appeared occasionly under the conditions of great happiness,extreme an-ger or been raged.Conclusion VEEG have irreplaceable diagnostic and differential diagnostic value in infants less than 1 -year-old with NCS,and play an important role in monitoring the development of NCS.
10.Expression of TSLC-1 in human papillary thyroid carcinoma and its clinical significance
Hua HU ; Shuai YANG ; Xiaoyu WANG
The Journal of Practical Medicine 2015;(12):1922-1925
Objective To explore the relationship between TSLC-1 protein expression and the progression and carcinogenesis of human papillary thyroid carcinogenesis. Methods Expressions of TSLC-1 protein in 20 pieces of benign thyroid lesions and 40 pieces of papillary thyroid carcinoma tissues were examined by immunohistochemistry. Results The expression of TSLC-1 in papillary thyroid carcinoma (9/40) was lower than that in benign thyroid lesions (22.50% versus 90.00%, P < 0.05). Expression of TSLC-1 was significantly associated with lymph node metastasis and TNM in papillary thyroid carcinoma (P < 0.05). Conclusions Expression of TSLC-1 is closely related with carcinogenesis , lymph node metastasis , and clinical stage in papillary thyroid carcinoma.