Objective To observe the behavior changes and synaptic reconstruction of brain and the impact of gastrodin in rats with epilepysy induced by pentylenetetrazole.Methods Fifty Wistar rats in growth(50-70 g) were randomly divided into 5 groups:control group,Pentylenetetrazole (PTZ) group,gastrodin high dose group,gastrodin low dose group and sodium valproate group,each group had 10 rats.According to Racine classification,the behavior changes of rats and the frequency were recorded.Conventional method was adopt to perfuse cordis, fix and extract the brain,and the immunohistochemistry was used to detect synaptophysin(P38) expression in the temporal lobe and hippocampus of the brain after 4 weeks.Results 1.Four weeks after pentylenetetrazole ignited the growth period rats,the attack-level of each experimental group through comparison with each other,there was statistically significant difference(?2=35.83 P0.05).Conclusions There are mossy fiber sprouting and the formation of synaptic reconstruction in temporal lobe and hippocampus of the growth period rats repea-tedly ignited by pentylenetetrazole.Gastrodin may play a role in the formation of antiepileptic obviously,and through decreasing the expression of P38,which can inhibit the formation of synaptic reconstruction,as control seizures indirectly.

OBJECTIVETo investigate if the duration from poisoning to treatment (no treatment period) is related to the prognosis of patients with severe acute organophosphorus pesticide poisoning (SAOPP).

METHODSOne hundred and seventy-four patients with the pre-hospital systematic treatment served as the treatment group while 160 patients going to the hospital by themselves without treatment or rejecting gastrolavage served as the control group. Patients in both groups were treated by gastrolavage, pralidoxime chloride, atropine and other expectant treatment. The duration of no treatment period, death, and severe complication were observed. The time of disappearance of symptoms, the recovery time of acetyl cholinesterase (AChE), atropinization time, atropine dosage, pralidoxime chloride dosage, naloxone dosage, hospitalization days and other targets were also observed.

RESULTSThe duration of no treatment period in treatment group [(1.2 +/- 0.3) h] was significantly shorter than that in control group [(2.8 +/- 0.5) h, (P < 0.01)]. The mortality rate in treatment group was 6.32% while that in control group 22.5% (P < 0.01). The incidence of respiratory failure, heart injury, brain injury, atropine poisoning, intermediate syndrome, liver injury in treatment group (12.64%, 5.75%, 8.62%, 1.72%, 4.60%, 5.17% respectively) were lower than those in control group (25.63%, 13.75%, 17.50%, 6.25%, 7.50%, 9.38% respectively, P < 0.05 or P < 0.01). The time of symptoms disappearance, the recovery time of AChE, atropinization time, atropine dosage, pralidoxime chloride dosage, naloxone dosage, hospitalization days in treatment group were significantly superior to those in control group (P < 0.05 or P < 0.01).

CONCLUSIONThe pre-hospital systematic treatment can improve the prognosis of the patients with SAOPP, which is worth popularizing and using.

Adult ; Case-Control Studies ; Emergency Medical Services ; Female ; Humans ; Insecticides ; poisoning ; Male ; Organophosphate Poisoning ; Pesticides ; poisoning ; Prognosis

OBJECTIVETo study the changes and significance of NF-kappa B activation in peripheral blood mononuclear cells (PBMC) of children with epilepsy.

METHODSNF-kappa B activation in PBMC was assayed by the flow cytometry in 32 healthy children and 64 children with epilepsy before and after treatment. The 64 epileptic children were subdivided into three groups: systemic seizure, partial seizure and unknown classification.

RESULTSNF-kappa B activation in PBMC in three epilepsy subgroups were significantly higher than that in healthy controls. The systemic seizure group showed significantly increased NF-kappa B activation in PBMC compared with the partial seizure group (p<0.01) and the unknown classification group (p<0.05). After treatment NF-kappa B activation in PBMC in three epilepsy subgroups was significantly reduced (p<0.01).

CONCLUSIONSNF-kappa B activation in PBMC increased in children with epilepsy, and it was positively correlated with the severity of seizures.

Adolescent ; Child ; Child, Preschool ; Epilepsy ; blood ; drug therapy ; Female ; Flow Cytometry ; Humans ; Infant ; Leukocytes, Mononuclear ; metabolism ; Male ; NF-kappa B ; metabolism

OBJECTIVETo characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.

METHODSClinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.

RESULTSPCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.

CONCLUSIONCombined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

46, XX Disorders of Sex Development ; genetics ; Adolescent ; Adult ; Child, Preschool ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Genetic Association Studies ; methods ; Humans ; Karyotyping ; methods ; Male ; Sex Chromosome Aberrations ; Translocation, Genetic ; Young Adult

OBJECTIVETo study the application value of asthma predictive index (API)-based group therapy in wheezing children under 5 years of age.

METHODSA total of 239 wheezing children under 5 years of age were divided into API-positive (n=126) and API-negative groups (n=113). Each group was randomly assigned to inhaled corticosteroids (ICS) subgroup and montelukast sodium (leukotriene receptor antagonist, LTRA) subgroup. The ICS and LTRA subgroups received the same drug therapy at the same dosage within the first four weeks of treatment. In the stable period of disease, the ICS subgroup only received aerosol inhalation of budesonide suspension, while the LTRA group was orally given montelukast sodium only. Asthma symptom scores were assessed and recorded at different time points.

RESULTSIn the first four weeks of treatment, ICS and LTRA were effective both in the API-positive and API-negative groups; the two groups showed significant improvements in asthma symptom scores, and the asthma symptom score showed no significant difference between the ICS and LTRA subgroups of each group. After 24 weeks of treatment, the two therapies were still effective; in the API-positive group, the LTRA subgroup had a better treatment outcome than the ICS subgroup, but there was no significant difference in treatment outcome between the LTRA and ICS subgroups of the API-negative group.

CONCLUSIONSFor wheezing children under 5 years of age, therapeutic strategies can be chosen based on API in the stable period of disease, so as to better control wheezing.

Administration, Inhalation ; Adrenal Cortex Hormones ; administration & dosage ; Asthma ; diagnosis ; drug therapy ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Leukotriene Antagonists ; therapeutic use ; Male ; Psychotherapy, Group ; Respiratory Sounds ; diagnosis ; drug effects

OBJECTIVETo investigate the immunotherapy efficacy of both helper T lymphocytes (Th) and cytotoxic T lymphocytes (CTL) epitopes augmented dendritic cells (DCs) tumor vaccine on gastric cancer.

METHODSNaïve spleen T cells were stimulated by mixed peptides (a mixture of Th epitope MAGE-3 (22-36)) primed DCs per week in vitro. After 4 cycles of restimulation, peptide specific T cells were harvested and subgroups of which were determined with flow cytometry. Cytokines secreting profiles by CD4+ T cells and cytotoxicities of CD8+ T cells on tumor cells were assessed. The protective immunity by referred DCs tumor vaccines was also monitored.

RESULTSBoth Th and CTL epitopes primed DCs could elicit both CD4+ T cells and CD8+ T cells in vitro,of which CD4+ T cells released high amount of Th1 type cytokines (IFN-gamma, IL-2) on recognizing specific antigen, as well as CD8+ T cells exhibited efficient tumor-killing capacity. The effects induced by DCs pulsed with single epitope (Th or CTL epitope) in vivo were less effective than those induced by DCs pulsed with mixture epitopes.

CONCLUSIONSBoth Th and CTL epitopes augmented DCs tumor vaccine can induce CD4+ Th1 and CD8+ CTL mediated immune responses to eradicate gastric cancer cells.

Animals ; Cancer Vaccines ; immunology ; therapeutic use ; Cell Line ; Cell Line, Tumor ; Dendritic Cells ; immunology ; Epitopes, T-Lymphocyte ; immunology ; Immunotherapy ; Melanoma, Experimental ; Mice ; Peptides ; immunology ; Stomach Neoplasms ; therapy ; T-Lymphocytes, Cytotoxic ; immunology ; T-Lymphocytes, Helper-Inducer ; immunology

BACKGROUNDNonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worldwide. In this study, we reported the identification of a novel pathogenic mutation causing DFNA5 deafness in a five-generation Chinese family.

METHODSAfter detailed clinical evaluations of this family, the genomic DNA of three affected individuals was selected for targeted exome sequencing of 101 known deafness genes, as well as mitochondrial DNA and microRNA regions. Co-segregation analysis between the hearing loss and the candidate variant was confirmed in available family members by direct polymerase chain reaction (PCR)-Sanger sequencing. Real-time PCR (RT-PCR) was performed to investigate the potential effect of the pathogenic mutation on messenger RNA splicing.

RESULTSClinical evaluations revealed a similar deafness phenotype in this family to that of previously reported DFNA5 families with autosomal dominant, late-onset hearing loss. Molecular analysis identified a novel splice site mutation in DFNA5 intron 8 (IVS8+1 delG). The mutation segregated with the hearing loss of the family and was absent in 120 unrelated control DNA samples of Chinese origin. RT-PCR showed skipping of exon 8 in the mutant transcript.

CONCLUSIONSWe identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8. Our findings provide further support to the hypothesis that the DFNA5-associated hearing loss represents a mechanism of gain-of-function.

Adult ; Deafness ; genetics ; Exons ; genetics ; Female ; Hearing Loss ; genetics ; Hearing Loss, Sensorineural ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Young Adult

OBJECTIVETo observe the effect of autologous bone marrow stem cell (BMSC) transplantation via the renal artery on renal function recovery following renal ischemic-reperfusion (I/R) injury in rabbits.

METHODSBMSCs were collected and isolated from rabbits. Twenty-eight rabbits were subjected to renal pedicle clamping for 105 min and randomized subsequently into transplantation group and control group. BMSCs or saline were injected into the kidney via the renal artery, respectively. Before and 1, 3, 5, 7, 14, 21, and 28 days after I/R injury the venous blood was collected to measure the serum levels of SCr and BUN, and the renal tissue was sampled for pathological observation.

RESULTSOne and 3 days after I/R injury, serum Cr and BUN levels increased significantly to the highest level in both groups. On the 7th day serum Cr and BUN levels in the transplantation group were lower than those in control group and remained so till the end of the experiment. On the 28th day, the levels of serum Cr (90.1+/-11.1 micromol/L) and BUN (8.0+/-1.5 mmol/L) in the transplantation group were significantly lower than those in the control group (135.6+/-32.5 micromol/L and 10.9+/-2.5 mmol/L, respectively, P<0.05). Pathological observation of the renal tissue revealed renal tubular epithelial cell degeneration, necrosis and abscission.

CONCLUSIONBMSC transplantation can accelerate renal function repair after acute tubular necrosis resulting from I/R injury, and decrease serum Cr and BUN levels in early stage following the injury.

Acute Kidney Injury ; blood ; etiology ; surgery ; Animals ; Blood Urea Nitrogen ; Bone Marrow Cells ; cytology ; Creatine ; blood ; Female ; Hematopoietic Stem Cell Transplantation ; Kidney ; blood supply ; Male ; Rabbits ; Random Allocation ; Renal Artery ; physiopathology ; Reperfusion Injury ; complications ; physiopathology ; Transplantation, Autologous

OBJECTIVETo explore the genotypic and clinical features and laboratory examinations of spinal muscular atrophy type 3 (SMA III).

METHODSResults of genetic testing and laboratory exams of 18 SMA III patients were collected and analyzed.

RESULTSThe average age of onset of patients was 6.1 years, with the course of disease lasting from 13 months to 28 years. All patients became symptomatic with lower extremity muscle weakness. The symptoms gradually aggregated, with proximal lower limb muscle becoming atrophic and proximal upper limb muscle becoming weak. Genetic testing indicated that all subjects possessed homozygous deletions of SMN1 gene. Electromyography (EMG) of 15 subjects indicated neurogenic damage. Whilst younger patients had normal level of creatine kinase (CK), elder patients had higher level of CK, though no linear correlation was found.

CONCLUSIONFull understanding of Clinical, especially the growth features of SMA III, in combination with genetic testing, can facilitate diagnosis and early intervention of the disease.

Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Female ; Genetic Testing ; methods ; Genotype ; Humans ; Male ; Spinal Muscular Atrophies of Childhood ; diagnosis ; genetics ; pathology ; Survival of Motor Neuron 1 Protein ; genetics

OBJECTIVETo investigate the prognostic value of ultra-sensitive pregnancy associated plasma protein-A (PAPP-A) level in the early phase of acute coronary syndrome (ACS) attack.

METHODSPatients diagnosed as ACS were enrolled and the level of circulatory PAPP-A was measured within 12 hours after ACS attack. The patients were followed at the time of 1st, 6th, and 12th months post-ACS attack in order to observe the incidence of the cardiovascular adverse events. According to the highest quintile, the patients were divided into 2 groups: high level (≥26.08 μg/L) group and low level (<26.08 μg/L) group, to evaluate the association between the level of PAPP-A and the incidence of the cardiovascular events.

RESULTSCompared with the low level group, the incidence of the composite outcome is significantly increased in the high level group, and the values of OR are 4.76, 4.38, 3.75 for 1st, 6th, 12th months respectively (P=0.000). For myocardial infarction (MI) + cardiac death (CD) the values of OR were 9.81, 6.08, 4.12 (P<0.01). Multivariate logistic regression analysis demonstrates that PAPP-A was an independent risk factor for the cardiovascular adverse events in the early, median, and late phase of ACS (P<0.05).

CONCLUSIONIn the early phase of ACS attack, the elevation of PAPP-A is an independent risk factor for the occurrence of cardiovascular adverse events.

Acute Coronary Syndrome ; blood ; diagnosis ; Aged ; Female ; Humans ; Male ; Middle Aged ; Pregnancy-Associated Plasma Protein-A ; metabolism ; Prognosis ; Risk Factors