Objective To explore the influence of lamotrigine(LTG)and valproate(VAP)on cognitive function in children with epilepsy.Methods Seventy-six epileptic children firstly diagnosed were chosen,36 cases received LTG monotherapy and 40 cases undwent the treatment of VPA.The intelligence quotient(IQ)value was measured before and after 6 months treatment respectively,and 20 healthy children were selected as healthy control.Results 1.The epileptic children had poor verbal intelligence quotient(VIQ),performance intelligence quotient(PIQ)and full intelligence quotient(FIQ)compared to the control subjects(Pa0.05).But among the subtestings,the know-ledge,wood-graph,coded score of the VPA groups had significant difference(Pa

This study was aimed to investigate the expression of RHBDD1 gene in patients with chronic myeloid leukemia (CML) and explore its clinical significance. The relative expression levels of RHBDD1 in bone marrow mononuclear cells of healthy controls and CML patients were detected by using real time PCR. The results showed that the expression level of RHBDD1 in CML patients was significantly higher than that in healthy controls. The expression level of RHBDD1 in CML patients with negative BCR/ABL p210 was remarkably higher than that in patients with positive BCR/ABL p210. In patients ≥ 50 years old RHBDD1 expression was lower than the patients < 50 years old. There were no significant relation of RHBDD1 expression with sex of patients. It is concluded that RHBDD1 gene may be involved in the pathogenesis and progression of CML, particularly reflects in the pathogenesis of the patients with negative BCR/ABL p210.
Bone Marrow Cells ; metabolism ; pathology ; Case-Control Studies ; Female ; Gene Expression ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; genetics ; metabolism ; pathology ; Male ; Middle Aged ; Serine Endopeptidases ; genetics ; metabolism

Objective To investigate the status of endemic fluorosis in Boxing County in Shandong Province at present,and to provide the scientific evidence for making strategies in prevention and control.Methods Children aged 8-12 years old and adults above 30 years old were selected from 8 endemic fluorosis villages in 2 fluorosis of children aged 8-12 years old were diagnosed by Dean method and skeletal fluomsis diagnosed by clinic and X-Rays.Results Eight villages in 2 towns were chosen underwent epidemiological investigation.Eight villages had water fluoride content＞4.50 mg/L.the highest water fluoride content was 5.78 mg/L.The total rate of dental fluorosis of children aged 8-12 years old WaS 90.70%(195/215),the index of dental fluorosis was 2.15 and the rate of dental damage was 24.65%(53/215).The rate of skeletal fluorosis detected by clinic and X-rays in adults older than 30 years old were 30.71%(78/254)and 16.54%(42/254),respectively.The averaged fuoride level in urine wa8 over 1.50 mg/L in 98.95%(189/191)of children aged 8-12 years old and in 97.92%(235/240)adults older than 30 years old,with the highest respectively being 14.50 mg/L and 17.99 mg/L.Conclusions In Boxing County in Shandong Province,endemic fluorosis is not effectively controlled.So endemic fluorosis control mfist be strengthened.

Objective To study the in vitro expression of three phenylalanine hydroxylase(PAH)mutants(p.R243Q,p.R241C,and p.Y356X)and determine their pathogenicity.Methods Bioinformatics techniques were used to predict the impact of PAH mutants on the structure and function of PAH protein.Corresponding mutant plasmids of PAH were constructed and expressed in HEK293T cells.Quantitative reverse transcription polymerase chain reaction was used to measure the mRNA expression levels of the three PAH mutants,and their protein levels were assessed using Western blot and enzyme-linked immunosorbent assay.Results Bioinformatics analysis predicted that all three mutants were pathogenic.The mRNA expression levels of the p.R243Q and p.R241C mutants in HEK293T cells were similar to the mRNA expression level of the wild-type control(P>0.05),while the mRNA expression level of the p.Y356X mutant significantly decreased(P<0.05).The PAH protein expression levels of all three mutants were significantly reduced compared to the wild-type control(P<0.05).The extracellular concentration of PAH protein was reduced in the p.R241C and p.Y356X mutants compared to the wild-type control(P<0.05),while there was no significant difference between the p.R243Q mutant and the wild type control(P>0.05).Conclusions p.R243Q,p.R241C and p.Y356X mutants lead to reduced expression levels of PAH protein in eukaryotic cells,with p.R241C and p.Y356X mutants also affecting the function of PAH protein.These three PAH mutants are to be pathogenic.[Chinese Journal of Contemporary Pediatrics,2024,26(2):188-193]