OBJECTIVELennox-Gastaut syndrome (LGS) is one of the most severe and refractory form of childhood epilepsy. The purpose of this study was to investigate the clinical and EEG characteristics of patients with LGS.

METHODSSixty-two patients with LGS, including 37 males and 25 females, were followed-up regularly per three months or per six months, therapy was adjusted according to the changes in seizures and EEG, and the clinical data were analyzed in detail.

RESULTSThe onset occurred between the age of 8 months and 12 years, with the peak at 1-4 years of age, accounting for 61%; a late onset which occurred after 8 years of age, was unusual. Furthermore, one patient who developed LGS at the age of 13 years and remained to have all the features of seizures and EEG at 35 years of age was identified as adult's LGS. Forty-three patients were classified as symptomatic, perinatal events were the predominant factors in this group. The others were cryptogenic. It was noted that 11 cases had a history of West syndrome. A transformation process from West syndrome to LGS was observed in another 7 cases. Every patient had two or more seizure types during the course of the disease; tonic seizure, atypical absence seizure, head drop or sudden falls were the characteristic types. The degree of mental deficit was variable from slight to profound deterioration, but mental and behavioral disturbances existed in every case as a rule. In all cases electroencephalogram (EEG) background was abnormal and consisted of diffuse slow spike-and-waves (1-1.5CPS), predominant in frontal and temporal regions. Twenty-four cases had the polyspike-wave. Bursts of fast rhythms (10-14CPS) were observed in 29 patients during sleep. The choice of antiepileptic drugs (AEDs) was based on the seizure types; routinely, 2 or more kinds of AEDs were used in combination, the classic drugs, valproate and clonazepam were firstly recommended; the other drugs, such as lamotrigine and topiramate that are used as add-on therapy were further consideration. Although the total effect was not satisfactory, the severity and frequency of seizures in almost all cases had lessened to some extent.

CONCLUSIONLGS shows diverse manifestations; comprehensive diagnosis is crucial, active and efficacious treatment can improve the mental and behavioral development and prognosis as a whole.

Child ; Child, Preschool ; Electroencephalography ; Epilepsies, Myoclonic ; complications ; pathology ; therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Intellectual Disability ; complications ; Male ; Spasms, Infantile ; complications ; Syndrome ; Tomography, X-Ray Computed

OBJECTIVETo establish an effective method of genetic diagnosis on hemophilia A (HA) by detecting the inversion mutation in intron 22 of F8 gene.

METHODSIntron 22 inversion mutation in F8 gene was detected by using long distance-polymerase chain reaction (LD-PCR) and inversion-PCR (I-PCR) in 31 HA patients. The mothers of HA patients with intron 22 inversion mutation were selected to carrier diagnosis and amniotic fluid of the pregnant women with inversion mutation was collected at intermediate stage of gestation, and used to prenatal genetic diagnosis.

RESULTSSeven patients showed F8 gene inversion mutation in thirty-one patients. Three in four mothers of HA patients with intron 22 inversion mutation were diagnosed as carriers. The prenatal diagnosis result indicated that the fetus conceived in the HA-carrier woman was normal individual.

CONCLUSIONThe detection of intron 22 inversion mutation by LD-PCR and I-PCR is time-saving, and can be used in prenatal diagnosis on HA.

Factor VIII ; genetics ; Female ; Hemophilia A ; diagnosis ; genetics ; Humans ; Introns ; genetics ; Mutation ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity

This study was purposed to investigate the correlation between the dose infused megakaryocytic precursors (CD34+, CD34+CD61+) and recovery time of platelet count following an allogeneic PBSCT and/or BMT through quantitative detection of CD34+ and its subpopulation in peripheral blood and BM mobilized by G-CSF. 24 patients with various hematologic malignancies received PBSCT/BMT from their HLA matched or unrelated donors and haploidentical siblings in April-December 2007. 20 evaluated patients were divided into 2 groups according to different transplant schemes. HLA matched group received PBSCT regime and haploidentical group received PBSCT combined with BMT. CD34+CD61+ subpopulations in sample from patients receiving PBSCT/BMT were measured by flow cytometry immediately or storage over night. The results showed that the median number of infused CD34+, CD34+CD61+ and CD34-CD61+ cells in haploidentical group were 6.24x10(6)/kg (1.53-20.48), 66.19x10(4)/kg (8.16-493.83), and 34.38x10(6)/kg (14.71-109.16) respectively, in HLA matched group those were 4.88x10(6)/kg (1.00-8.24), 14.16x10(4)/kg (11.63-96.87), and 13.50x10(6)/kg (1.74-35.61), respectively. Median days of ANCs>0.5x10(9)/L and platelets>20x10(9)/L were 18.5 (11.0-29.0) days and 16.5 (9.0-35.0) days in haploidentical group respectively; in HLA matched group those were 14.5 (9.0-24.0) and 10.5 (6.0-37.0) respectively. A significance difference of median days for ANC engraftment presented between two groups (p=0.048). There was no significant difference of time for platelet engraftment between 2 groups. For patients with CD34+ cell dose>2x10(6)/kg there was significant difference of time of platelet engraftment between HLA matched and haploidentical groups (p=0.006). The number of CD34+CD61+ cells infused in 12 haploidentical patients or in 8 HLA matched patients were much better correlated with the time of platelet recovery up to 20x10(9)/L than that of number of CD34+ cells infused in total 20 patients (r=-0.768 and p=0.004 for haploidentical CD34+CD61+ cells, r=-0.747 and p=0.033 for HLA matched CD34+ CD61+ cells, r=-0.449 and p=0.047 for CD34+ cells). There was an inverse correlation between the number of infused CD34+ CD61+ cells and time of platelet engraftment. Therefore, as the number of CD34+ CD61+ cells increased, duration of platelet engraftment (time to reach platelet count of 20x10(9)/L) shortened significantly. It is concluded that the determining the number of megakaryocytic precursor by flow cytometry may predict the platelet reconstitutive capacity of the allogeneic hematopoietic stem cell transplantation, which is in haploidentical PBSCT and in BMT.
Antigens, CD34 ; immunology ; Bone Marrow Transplantation ; Female ; Flow Cytometry ; Graft Survival ; Haploidy ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Megakaryocytes ; cytology ; immunology ; Platelet Count ; Thrombopoiesis ; Transplantation, Homologous

OBJECTIVETo investigate the difference in interictal perfusion patterns between refractory and non-refractory temporal lobe epilepsies evaluated with flow-sensitive alternating inversion recovery (FAIR) magnetic resonance (MR) sequence.

METHODSNine patients with refractory temporal lobe epilepsy, 21 patients with non-refractory temporal lobe epilepsy, and 13 normal volunteers underwent FAIR MR scanning. The relative cerebral blood flow (rCBF) in bilateral hemispheres and mesial temporal lobes were measured. And we also calculated the asymmetry index (AI) values.

RESULTSThe AI values of bilateral hemispheres in refractory and non-refractory epilepsy patients were both significantly different from those of volunteers (P = 0.012 and 0.029, respectively). There was significant difference in AI values of bilateral mesial temporal lobes between non-refractory epilepsy patients and volunteers (P = 0.049), while no significant difference between refractory epilepsy patients and volunteers.

CONCLUSIONSThe hypoperfusion pattern of interictal refractory temporal lobe epilepsy patients is different from that of non-refractory patients. Although the hypoperfusion tends to extend out of temporal lobes in all patients, the refractory epilepsy patients have a preference of bilateral mesial temporal hypoperfusion, which may be valuable for evaluating prognosis.

Adolescent ; Adult ; Cerebrovascular Circulation ; Child ; Epilepsy, Temporal Lobe ; physiopathology ; Female ; Humans ; Magnetic Resonance Imaging ; instrumentation ; methods ; Male ; Middle Aged ; Perfusion ; Temporal Lobe ; blood supply

BACKGROUNDMost patients with epilepsy want to learn as much as possible about the disease, and many have turned to the internet for information. Patients are likely to use information obtained from the internet to control their epilepsy, but little is known about the accuracy of this information. In this survey, we have assessed the feasibility and usability of internet-based interventions for the treatment of epilepsy.

METHODSData were collected from an internet search. Different search terms were used to obtain general information on epilepsy together with information about medication, types of epilepsy, treatment, women's health, and other information. The accuracy of the information was evaluated by a group of experts.

RESULTSA total of 1320 web pages were assessed. The majority were websites related to health. A large number (80.2%) of web pages contained content related to the search term. A significant number of web pages 450/1058 (42.5%) claimed to provide information from a credible source; however, only 206/1058 (19.5%) of the information was accurate and complete; 326/1058 (30.8%) was accurate but incomplete; 328/1058 (31.0%) was correct but nonstandard, and 198/1058 (18.8%) was inaccurate. The authenticity of the information was not significantly different between the two search engines (χ2 = 0.009, P = 0.924). No significant difference was observed in the information obtained from a specialist or nonspecialist source (χ2 = 7.538, P = 0.057). There was also no correlation between the quality of the information and the priority (χ2 = 6.880, P = 0.076).

CONCLUSIONSSearching for information about epilepsy on the internet is convenient, but the information provided is not reliable. Too much information is inaccurate or for advertisement purposes, and it is difficult for patients to find the useful information. Turning to the internet for medical knowledge may be harmful. Physicians should be aware that their patients may search for information on the internet and guide them to safe, reputable websites.

Chi-Square Distribution ; Epilepsy ; Humans ; Internet ; Software

OBJECTIVETo establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).

METHODSTwenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.

RESULTSTwenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.

CONCLUSIONPCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.

Child ; Exons ; genetics ; Female ; Gene Deletion ; Genetic Counseling ; Humans ; Male ; Muscular Atrophy, Spinal ; diagnosis ; genetics ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Prenatal Diagnosis ; SMN Complex Proteins ; genetics ; Spinal Muscular Atrophies of Childhood ; diagnosis ; genetics ; Survival of Motor Neuron 1 Protein ; genetics

OBJECTIVETo evaluate metabolic abnormalities in patients with mesial temporal lobe epilepsy (MTLE) with proton magnetic resonance spectroscopy (MRS) using a 3. 0T MR scanner.

METHODSSixty-three patients (32 women and 31 men) with diagnosed MTLE underwent diagnostic MR imaging (MRI) and proton MRS using a 3. 0T MR scanner. The clinical history and interictal epileptiform discharges (IEDs) were recorded. Sixteen healthy volunteers served as control. The results of proton MRS were compared with the findings of electroencephalogram and structural MRI findings.

RESULTSTwenty-seven of the 63 patients with MTLE showed unilateral hippocampal sclerosis, and 9 showed bilateral hippocampal sclerosis. The concentration ratio of N-acytelaspartate (NAA)/[creatine (Cr) + choline (Cho)] in the hippocampal region of MTLE patients (0.64 +/- 0.07) was significantly lower than control (0.80 +/- 0.05, P = 0.023). In the patients with unilateral hippocampal sclerosis, NAA/(Cr + Cho) in the hippocampal region ipsilateral to the sclerotic hippocampus (0.56 +/- 0.06) was significantly lower than the ratio in the contralateral hippocampal region (0.69 +/- 0.07, P < 0.001). There was significant difference in hippocampal NAA/(Cr + Cho) between the refractory patients and the non-refractory patients (0.64 +/- 0.05 vs. 0.71 +/- 0.07, P = 0.04). Forty-five patients were lateralized by IEDs, while 49 patients were lateralized by metabolite ratio. And lateralization determined by proton MRS and IEDs was concordant in 33 patients.

CONCLUSIONSMRS as a noninvasive tool adds helpful metabolite information to routine MRI in evaluation of MTLE. The method is well established and should be a routine clinical application in the investigation of epilepsy.

Adult ; Aspartic Acid ; analogs & derivatives ; metabolism ; Choline ; metabolism ; Creatine ; metabolism ; Electroencephalography ; Epilepsy, Temporal Lobe ; metabolism ; Female ; Hippocampus ; metabolism ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; instrumentation ; methods ; Male ; Protons

Objective To study the clinical significance of the method of three perpendicular planes plus special planes in diagnosing fetal cleft lip /palate by prenatal ultrasound .Methods The approach of three perpendicular planes and special planes were used in diagnosing 110 cases of cleft lip/palate.The sonogram features in each section were analyzed and the outcomes were recorded during follow-up.Results On prenatal ultrsound ,110 cases were examined with three perpendicular planes method .The coronary section could be displayed at 100%cases (110 cases), sagittal section 76.4%cases (84 cases),transverse section 96.4%cases (106 cases) and parasagittal section 25.5%cases (28 cases).With special planes method,74 cases were examined .The section through pyriform aperture could be displayed in 47 cases,in 45 cases on the section through the lower lip/lower jaw/submandibular triangle ,and in 16 cases on the section through the cheek.Combining the three perpendicular planes and special planes methods ,94.5%(104/110) cases could be diagnosed definitely.Six cases (5.5%,6/110) were missed because of fetal position or oligoamnios . Conclusions The method of three perpendicular planes plus special planes is effective in prenatal ultrasound diagnosing cleft lip/palate,which is of great help in improving prenatal diagnostic accuracy of fetal cleft lip/palate.

Objective To explore the risk factors and the rate of HBV vertical transmission from HBsAg-positive couple to their infant.Methods 46 families who had antenatal examination at Fujian Provincial Maternal and Child Health Hospital during August 2010 and November 2011 were chosen as research object.Cord blood was sampled after delivery for HBVM and HBV-DNA quantification.Those with HBV-DNA load ≥5 × 102 copies/ml were involved in the case group while those having ＜5 × 102 copies/ml were chosen as controls.Results The average positive rate of neonatal cord blood HBV-DNA was 45.7％ (21/46),while the positive rates of cord blood HBsAg and HBeAg were 34.8％(16/46) and 23.9％ (11/46) respectively.The positive rates of maternal serum HBV-DNA and paternal serum HBV-DNA were 52.2％ (24/46) and 69.6％ (32/46) respectively,with the positive rate of couple serum HBeAg as 39.1％ (18/46) and 32.6％(15/46) respectively.Results from univariate analysis showed that hepatitis B surface markers,serum HBeAg-positive,serum HBV-DNA positive,and serum HBV-DNA load of the couples were risk factors to the HBV vertical transmission(x2＝8.731,8.414,8.932,9.663,10.823,3.962,13.638,36.501 ;P＜0.05).Data from the multivariate analysis showed that maternal serum HBV-DNA positive and paternal serum HBV-DNA load were risk factors to the HBV vertical transmission [OR＝ 17.6 (1.3-238.4) ;OR ＝ 3.5 (1.6-7.6)].Serum HBV-DNA loads of the couples were positively correlated with the cord blood HBV-DNA load,while the load levels of the couple' s serum HBV-DNA were higher than cord blood HBV-DNA.There appeared dose-response relationship between couple' s serum HBV-DNA load level and the cord blood HBV-DNA load level.Results from the analysis of ROC curve showed that both maternal serum HBV-DNA load level (103 copies/ml) and paternal serum HBV-DNA load level (104 copies/ml) were demarcation points to better forecast the occurrence of vertical transmission of HBV,because there showed higher sensitivity and specificity for the forecasting process.Neonatal outcomes showed no significant difference between the case group and the control group.The negative conversion rate became 15.0％ (3/20) when the HBV-DNA positive infants were followed up for 7 months.Conclusion Both maternal serum HBV-DNA positive and paternal serum HBV-DNA load were risk factors of HBV vertical transmission.When the maternal serum HBV-DNA load appeared ＞103 copies/ml and paternal serum HBV-DNA load ＞ 104 copies/ml,the rate of HBV vertical transmission would increase.

Objective:Through phosphatidylinositol 3-kinase（PI3K）/protein kinase B （Akt）/mammalian rapamycin target protein （mTOR） signaling pathway， explore the effect of Zhigancao Tang on myocardial ischemia-reperfusion injury（MIRI）The role and mechanism of arrhythmia（ventricular tachycardia and ventricular fibrillation）. Method:The 72 SD rats were randomly divided into sham operation group，model group， Zhigancao Tang low，medium and high dose group（11.43，22.86，45.72 g·kg^-1），Wenxin granule group（2.43 g·kg^-1），continuous drug intervention for 10 days. Two hours after the last administration，the MIRI model of rat was prepared by ligating the left anterior descending coronary artery，and the changes of electrocardiogram were recorded. After successful modeling，blood and heart tissue were collected to detect the content of creatine creatine（CK），lactate dehydrogenase（LDH）and aspartate aminotransferase（AST）in the serum, the enzyme-linked immunoassay（ELISA） method was used to detect cardiac troponin（CtnI）content, immunohistochemical detection of myocardial PI3K，Akt，mTOR expression. Western blot was used to detect the myocardial autophagy-related protein microtubule-associated protein 1 light chain 3（LC-3），autophagy markers Beclin1 and PI3K/Akt/mTOR signaling pathway related protein expression and phosphorylated p-PI3K，p-Akt，p-mTOR levels. Result:In model group， 100% of ventricular tachycardia and 91.67% of ventricular fibrillation occurred. Compared with sham operation group， the serum levels of CK，LDH，AST，and CtnI in the model group were significantly increased（P<0.01），PI3K，Akt，mTOR AOD values in myocardial tissue were significantly increased （P<0.01），the relative expression of the ratio of LC3-Ⅱ/LC3-Ⅰ and Beclin1 was significantly increased（P<0.01），p-PI3K/PI3K，p-Akt/Akt，and p-mTOR/mTOR were significantly reduced （P<0.01）. Compared with model group， the incidence of ventricular tachycardia and ventricular fibrillation in the high-dose Zhigancao Tang group was significantly reduced （P<0.01），and the duration was the shortest compared with other administration groups（P<0.01）， CK，LDH，AST level and CtnI content were significantly reduced（P<0.01）， the expression of PI3K，Akt and mTOR of Zhigancao Tang group was significantly decreased with increasing dose（P<0.01）， the expression of LC-3 and Beclin1 was accompanied by Zhigancao Tang increase of each dose group of soup had different degrees of decrease （P<0.01），while the expression ratio of PI3K/Akt/mTOR-related protein was significantly increased （P<0.05，P<0.01）. Conclusion:Pretreatment of Zhigancao Tang can reduce the abusually elevated cardiac enzymes CK, LDH, AST and CtnI, inhibit excessive autophagy of cells, and up-regulate the expression of PI3K, Akt and mTOR, indicating that the anti-MIRI arrhythmia effect of Zhigancao Tang may be related to the PI3K/Akt/mTOR signaling pathway.