Genetic Diseases, Inborn ; economics ; prevention & control ; therapy ; Humans ; Metabolic Diseases ; economics ; prevention & control ; therapy

Objective To explore the effect of the thyroid morphologic change,the initiating treatment time and the thyroid function(serum FT_4,TSH)on mental development in children with congenital hypothyroidism (CH).Methods After diagnosed,52 cases of CH were orally administrated with L-T_4,then their mental and physical development were monitored and thyroid morphologic changes were observed by thyroid imaging(~(99m)TcO_4) and type B ultrasonography.The Bayley test was performed at the age of 10 to 30 months and expressed as mental developmental index(MDI)and psychomotor developmental index(PDI).Analysis was conducted upon treatment timing and thyroid morphologic changes.Results The MDI in those cases with morphologic abnormalities treated within 90 days was significantly lower than that with normal morphology(91?20 vs 105?15,P

Adrenal Hyperplasia, Congenital ; complications ; metabolism ; Body Height ; Growth Disorders ; etiology ; Humans ; Risk Factors ; Steroid 21-Hydroxylase ; metabolism

Objective To investigate the prevalence of adult osteofluomsis in the endemic fluomsis areas in Tianjin and to provide scientific foundation for endemic fluorosis.Methods Stratified sampling in 55 villages were selected in 3 areas with slight,moderate and severe fluorosis regions in Tianjin from April to June in 2008.Water fluorine were tested and clinical osteofluorosis examinations were conducted to the population aging 16 and above in the villages.Tweenty villages were selected randomly in the slight,moderate and severe fluorosis regions.X-ray osteofluorosis examination were conducted to patients and suspected patients in these 20 villages.Results The geometric mean fluoride content in the water for the 3 areas were 1.35 mg/L,3.44 mg/L,5.49 mg/L,respectively.The prevalence of osteofluorosis were 36.7%(44/120),20.6%(33/160),39.4%(43/109),respectively.The prevalence of osteofluorosis Was increased gradually(r=0.534,P<0.01)and the symptoms and signs of the disease were more serious(H=84.813,P<0.01).The prevalence of X-ray diagnosis Was increased gradually(r=0.990,P<0.01)and signs of the disease were more severe(H=25.169,P<0.01)with an increase in age.There was no statistical significance of prevalence rate of osteofluorosis between males and females,regardless if it Was a clinical diagnosis(X2=0.343,P>0.05)or an X-ray diagnosis(X2=3.532,P>0.05).Conclusions Adult osteofluorosis to a certain extent is still prevalent in the fluorosis areas in Tianjin.Endemic fluorosis is still rampant.Improving water in fulorosis areas should be mandatory.

Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is a disorder involving the initial step of fatty acid beta-oxidation in the mitochondrial matrix. VLCADD can present at various ages,from the neonatal period to adulthood,with symptoms including hypoglycemia,rhabdomyolysis,skeletal muscle weakness and cardiomyopathy,and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis,treatment,and surveillance can reduce mortality. The most common diagnostic evaluation methods are plasma acylcarnitine profiles and ACADVL gene molecular testing. Functional testing,including white blood cell or fibroblast enzyme assay,is a useful diagnostic adjunct if molecular sequencing alone is insufficient to deter-mine the diagnosis or uncharacterized mutations are identified. Treatment emphasizes the avoidance of fasting and often includes a specialized diet that is high carbohydrate/low longchain fat which is supplemented by medium chain triglycerides(MCT).very-long chain acyl coenzyme A dehydrogenase

Objective:To investigate the effect of paraformaldehyde fixation on measuring the protein-protein interaction by fluorescence resonance energy transfer(FRET)to resolve the problem of FRET efficiency calculation in excess-movement cells.Methods:The C terminals of TCR ? chain(TRA)and TCR ? chain(TRB)genes,which were ideal for protein-protein interaction research,were fused with ECFP and EYFP gene respectively by fusion PCR and transferred into target cell.A grou Pcells were fixed in paraformaldehyde(0.5%)for 0.5~1h and another left alive,then these cells were subject to ECFP/EYFP FRET calculation with confocal laser scanning microscope.The ECFP/EYFP FRET efficiencies in live and fixed cell were analyzed and compared.Results:There is no significant statistical difference between the ECFP/EYFP FRET efficiencies of live cell and cell fixed with lower paraformaldehyde concentration and shorter incubation time.Conclusion:fixation with low-concentration paraformaldehyde and short-time incubation has no distinct influence on measuring protein-protein interaction,and facilitated the FRET calculation in excess-movement cells.

OBJECTIVEThis study aimed to investigate the mechanism of primary cortical neuron injury induced by high concentrations of copper by observing the effect of aceticum culture medium on apoptosis of rat primary cortical neurons and expression of cleaved caspase 3, caspase 8 and caspase 9.

METHODSPrimary cortical neurons were cultured for 72 hrs and then exposed to different concentrations of aceticum culture medium (20, 40 and 80 microM). The viability of neurons was detected by the MTT method. Apoptosis was observed by Hoechst33258 and flow cytometry Annexin V/PI. Expression of caspase 3, caspase 8 and caspase 9 was measured by Western blot.

RESULTSFollowing incubation with aceticum culture medium, apoptosis of neurons was induced. Theviability of neurons was remarkably reduced and the rate of apoptosis was tremendously increased in a concentration dependent manner. Caspase 8 and caspase 9 were activated in 20 microM of copper aceticum culture medium 4 hrs after incubation and peaked at 48 hrs in various concentrations of copper aceticum culture medium, presenting with a time and concentration dependent manner. The activated caspase 3 was observed in 20 microM of copper aceticum culture medium 24 hrs after incubation, which was later than the activated caspase 8 and caspase 9. Caspase 3 expression reached a peak 48 hrs in various concentrations of copper aceticum culture medium, presenting with a time and concentration dependent manner.

CONCLUSIONSThe apoptosis of primary cortical neurons can be induced by copper. Caspase 3, caspase 8 and caspase 9 cascade reaction may involve in the apoptosis of copper induced rat primary cortical neurons.

Animals ; Apoptosis ; drug effects ; Blotting, Western ; Caspase 3 ; physiology ; Caspase 8 ; physiology ; Caspase 9 ; physiology ; Cell Survival ; drug effects ; Cells, Cultured ; Cerebral Cortex ; drug effects ; Copper ; toxicity ; Rats ; Rats, Sprague-Dawley

Fatty acid oxidation disorders(FAOD)include more than 10 kinds of diseases,they all belong to autosomal recessive diseases and are common inherited metabolic diseases. Onset age of the patients with FAOD are from newborn to adult. The clinical manifestations were nonspecific,mainly manifested as liver disease,cardiomyopathy and muscle diseases. Detection of free carnitine and acylcarnitines in blood by tandem mass spectrometry and detection of gene mutations are important methods for diagnosis of such diseases. Tandem mass screening for neonatal screening is helpful for early diagnosis and early treatment of FAOD. Primary carnitine deficiency and multiple acyl-CoA dehydrogenase deficiency can be treated by specific therapeutic drugs with good effect. There are no specific drugs for other diseases,which need symptomatic treatment.

BACKGROUNDMyelosuppression is the main dose-related toxicity of many chemotherapeutic drugs. The human multidrug resistance (mdr1) gene is well-known for its ability to confering drug resistance. In this study, we meant to transplant the placenta mesenchymal stem cells (P-MSCs) moderated by mdr1 gene into a nude mice model radiated by γ-Co(60) and to explore the chemoprotection for bone marrow (BM) toxicity.

METHODSHuman P-MSCs were isolated from trypsin-digested term placentas and then transduced by with reconstructed retroviral vector containing mdr1 gene and green fluorescent protein (GFP) reporter gene. The integration and expression of mdr1 gene was observed indirectedly by the expression of GFP. A nude mice model was constructed after irradiation with a sublethal dosage of γ-Co(60). These irradiated mice were transplanted with mdr1-MSCs through the caudal vein and then received paclitaxel (PAC) intraperitoneal chemotherapy. The Peripheral peripheral blood (PB) of the nude mice was collected, and the PB cells counts and values were determined using an automatic analyzer.

RESULTSAfter PAC treatment, mdr1-MSCs transplanted mice showed markedly improved survival upon compared to MSCs transplanted mice (85.7% vs. 57.1%). White blood cell (WBC) and red blood cell (RBC) counts as well as the hemoglobin (Hb) values were significantly increased in PAC treated mdr1-MSCs mice compared to PAC treated control mice when PAC chemotherapy had been finished (all P < 0.05), but the difference was not found in the plateltes (PLT) count (P > 0.05).

CONCLUSIONHuman P-MSCs moderated by mdr1 gene when transplanted into nude mice may provide chemoprotection for hematopoietic toxicity.

Animals ; Bone Marrow ; Cell Differentiation ; genetics ; physiology ; Cells, Cultured ; Erythrocytes ; metabolism ; Female ; Genes, MDR ; genetics ; physiology ; Green Fluorescent Proteins ; genetics ; metabolism ; Hemoglobins ; metabolism ; Humans ; Leukocytes ; metabolism ; Mesenchymal Stromal Cells ; cytology ; metabolism ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Placenta ; cytology ; Pregnancy