Dental Enamel ; surgery ; Dentin ; surgery ; Dentistry, Operative ; methods ; Humans ; In Vitro Techniques ; Laser Therapy ; methods

Objective To study the molecular genetic mechanism of a patient with 17? hydroxylase (CYP17) deficiency. Methods Genomic DNA were abstracted from the blood of the patient, her parents and healthy control. The 8 exons of CYP17 gene were amplified, using 5 pairs of designed primers, with polymerase chain reaction (PCR), and the 8 exons were sequenced by the dideoxy terminator method to determined the mutation sites. The corresponding exons of the parents of the patients were also amplified and sequenced to determine the zygosity of the patient and the source of the gene variances. Results The analysis revealed that the patient (46, XY) was a compound heterozygote carrying two different inherited mutations on CYP17 gene, one from mother containing a point mutation Arg 96 (C G G)→ Gln(C A G) and the other from father containing a nine base deletion (CACTCTTTC) at amino acid position 487～489 (Asp Ser Phe) near the carboxyl terminus of P450c17. Conclusion The CYP17 gene of the patient with 17? hydroxylase deficiency is a compound heterozygous mutation. The mutation changes the amino acid sequence of P450c17 enzyme, which in turn affected the enzymatic activity. Arg 96 is essential in P450c17 enzyme activity. Deletion of Asp 487 Ser 488 Phe 489 in exon 8 may be a prevalent mutation causing P450c17 deficiency in Southeast Asia.

Objective To investigate the prevalence and spectrum of β-thalassemia mutations in C, uangdong province, and provide a reference for prenatal diagnosis and genetic counseling in this population. Methods Three thousand two hundred and forty-seven blood samples were randomly selected from Guangzhou and 2984 blood samples from Shenzhen from January in 2005 to January in 2009. PCR and reverse dot blot hybridization (RDB) were adopted for detection of β-thalassemia mutations in Guangzhou and Shenzhen city. Results Seven hundred and fifty-one individuals in Guangzhou were found to have β-hemoglobin gene mutations, the detection rate was 23.13%(751/3247); 10 different mutations were identified, namely CD41-42(-TCTT), IVS-Ⅱ-654(C→T), -28(A→G), CDI7(A→T), CD71-72(+A), 13E, IVS-I-1(G→T), CD43(G→T), -29(A→G), CDI4-15(+G), which accounted for 42.53% (336/790) ,25.19% (199/790), 12.66% (100/790), 10.89% (86/790) ,3.29% (26/790), 2.15%(17/790), 1.27%( 10/790), 1.14%(9/790) ,0.51%(4/790) ,0.38%(3/790), respectively; the most common mutation was CD41-42(-TCTT), which accounted for 42.53%(336/790). In Shenzhen, 179 individuals were found to have β-thalassemia mutations, the detection rate was 6.00% (179/2984); 8 different mutations were identified excluding CD43 (G→T) and CD14-15 (+G); the most common mutation, however, was IVS-lI--654(C→T), which accounted for 40.44% (74/183). Conclusions The β-thalassemia mutations in Guangdong province are not only frequent, but also obviously heterogeneous, and the mutations differ from region to region. CD41-42 (-TCTT),ⅣS-Ⅱ-654(C→T), -28(A→G), CD17(A→T) were the 4 predominant mutations.

Objective To investigate the developmental characters of neural stem cells(NSCs) in occipital of cortex from human fetal brain at different age.Methods Ninety cases of embryoes at gestational age 16-32 weeks and by induction of labor with water bag were collected for determining distribution,shapes,growth modes and the number of NSCs in the occipital of cortex with immunohisto- chemical method under light microscope.Results It was noted that NSCs existed in the occipital of cortex from human fetal brain at different ages.NSCs mainly distributed in layers of cone cells and inner granule cells.NSCs existed in the occipital of cortex of different fetal age included middling round cells,NSCs had enations from 0 to 1.Nucli were larger than plasm.Each NSC had nucleoli from 2-4 and rarefaction chromatin.Most of NSCs distributed in three growth modes including crowd,cluster and clone,occasionally with a single growth mode among other nerve cells.There were no differences including distribution,shapes,growth modes and the number of NSCs in the occipital of cortex between groups,but,NSCs gradually decreased with increasing of age.Conclusion NSCs exists in the occipital of cortex from different gestational age,and the number of NSCs decreases with increasing of age.

Objective To explore the effects and the possible mechanism of Gingko biloba on liver injury due to arsenic poisoning in rats,and to provide experimental evidence for prevention and treatment of arsenic poisoning.Methods The corn powder baked by high arsenic coal was served as the main raw material to make feed containing arsenic.Forty healthy Wistar rats were randomly divided into 5 groups according to their body weights,including control group A,arsenic poisoning group,control group B,natural recovery group and Ginkgo biloba treatment group,eight rats in each group,half male and half female.The control group A rats were fed with normal diet ad libitum for 3.0 months;the arsenic poisoning group rats were freely given feed containing arsenic (100 mg/kg) for 3.0 months;the control group B rats were fed with normal diet ad libitum for 4.5 months;the natural recovery group rats were freely given arsenic (100 mg/kg) feed for 3.0 months,and then given a normal diet for 1.5 months;Ginkgo biloba treatment rats ingested arsenic feed for 3.0 months,and then give Ginkgo biloba solution (25 mg/kg) orally,6 d/week for 1.5 months,then back to normal diet.The content of arsenic in urine,liver,as well as the liver function indices [alanine aminotransferase (ALT),aspartate transaminase (AST),total bile acids (TBA),gamma glutamyl aminopeptidase (GGT),glutathione S-transferase (GSTs)] and the oxidative stress indexes [superoxide dismutase (SOD),glutathione peroxidase (GPx),thiol (-SH),malondialdehyde （MDA)] of liver homogenate,were measured.Results The arsenic content of urine and liver (geometric mean) of the rats in arsenic poisoning group (2 991.24 μg/g Cr,4.29 μg/g) were significantly higher than those in control group A (91.59 μg/g Cr,1.00 μg/g).Urinary arsenic and liver arsenic levels of rats in natural recovery and Ginkgo biloba treatment groups (467.39,334.48 μg/g Cr;,3.15,1.88 μg/g) were higher than those in control group B (99.54 μg/g Cr,0.85 μg/g).The arsenic contents of urine of the rats in natural recovery group,the arsenic contents of urine and liver of rats of Ginkgo biloba treatment group were all lower than those in arsenic poisoning group.The differences were significant (all P ＜ 0.05).The activity/contents of AST,TBA,GGT,GSTs of rats in arsenic poisoning group [(212.88 ± 29.76) U/L,(19.19 ± 4.33) μmol/L,(1.73 ± 0.50) U/L,(196.21 ± 47.38) U/L] were all significantly higher than those in control group A [(142.63 ± 24.20) U/L,(6.23 ± 2.95) μmol/L,(0.77 ± 0.32) U/L,(142.86 ± 28.58) U/L].The activity/contents of TBA,GGT,GSTs in natural recovery group were (17.07 ± 3.92) μ,mol/L,(1.47 ± 0.57) U/L and (178.06 ± 27.37) U/L;and the contents of TBA in Ginkgo biloba treatment group were (13.60 ± 3.00) μmol/L;which were all higher than those in control group B [(7.55 ± 2.45) μmol/L,(0.74 ± 0.51) U/L,(145.17 ± 28.59) U/L].The activity of AST in natural recovery group [(137.44 ± 23.20) U/L],the activity/contents of AST,TBA,GGT and GSTs in Ginkgo biloba treatment group[(129.63 ± 31.25) U/L,(13.60 ± 3.00) μmol/L,(1.15 ± 0.48) U/L,(155.64 ± 20.79) U/L,respectively] were all lower than those in arsenic poisoning group.The content of TBA in Ginkgo biloba treatment group was lower than that of natural recovery group.The differences of those indexes were all significant (all P ＜ 0.05).The activity/contents of SOD,GPx and-SH in arsenic poisoning group [(46.34 ± 11.39),(275.16 ± 92.00) U/mg prot and (0.08 ± 0.02) μmol/mg prot] were all significantly lower than those in control group A [(75.52 ± 8.72),(1 351.01 ± 395.96) U/mg prot,(0.13 ± 0.01) μmol/mg prot].The activity of SOD and GPx in natural recovery group [(42.44 ± 9.58),(694.87 ± 187.01) U/mg prot] were all lower than those in control group B [(68.17 ± 11.11),(1 342.80 ± 185.04) U/mg prot].The activity of GPx in natural recovery group,the activity/contents of SOD,GPx,-SH in Ginkgo biloba treatment group [(63.90 ± 10.44),(1 283.28 ± 373.87) U/mg prot,(0.12-± 0.02) μmol/mg prot] were all higher than those in arsenic poisoning group.The contents of SOD,GPx,-SH in Ginkgo biloba treatment group were higher than those of natural recovery group.The content of MDA in arsenic poisoning group [(3.05 ± 0.94) nmol/mg prot] was higher than that in control group A [(1.67 ± 0.55) nmol/mg prot].The content of MDA of rats in natural recovery and Ginkgo biloba treatment groups were (2.22 ± 0.93),(1.77 ± 0.37) nmol/mg prot,which were lower than those in the arsenic poisoning group.The differences of the above indexes were all significant (all P ＜ 0.05).Conclusion Ginkgo biloba can reduce the accumulation of arsenic in the liver and ameliorate lipid peroxidation,relieve liver injury effectively in rats caused by coal-burning arsenic.

Background Neurotransmitter secretion disorder induced by chronic manganese poisoning has always been one of the important causes of body injury, but the mechanism of neurotransmitter secretion disorder caused by manganese is not clear at present. Objective To investigate the effects of presynaptic membrane intracellular protein 13-1 (Munc13-1) and synapse fusion protein binding protein 18-1 (Munc18-1) on dopamine secretion dysfunction induced by manganese chloride (MnCl₂) in human neuroblastoma (SH-SY5Y) cells. Methods A SH-SY5Y cell model induced by MnCl₂ was established. Cell viability was measured by MTT assay. Four experimental groups were set up: control group and low-, medium-, and high-dose manganese groups (0, 100, 200, and 400 μmol·L⁻¹ MnCl₂). They were treated with corresponding doses of MnCl₂ for 24 h. The secretion of dopamine was measured by enzyme-linked immunosorbent assay. The mRNA expression of Syntaxin-1 was detected by real-time quantitaive PCR. Total cell proteins were extracted, and the protein expression levels of Munc13-1, Munc18-1, and Syntaxin-1 were detected by Western blotting. The correlations of MnCl₂ exposure and dopamine secretion with the protein expressions of Munc13-1 and Munc18-1 were also analyzed by Pearson correlation. Results Compared with the control group, the cell viability rate decreased gradually with the increase of manganese exposure concentration, and the difference between the medium- and the high-dose manganese groups was statistically significant (P<0.05). The concentration of dopamine in cell culture medium of all manganese exposure groups decreased with the increase of manganese concentration, and compared with the control group and the low-dose manganese group, the medium- and the high-dose manganese groups were statistically significant (P<0.05). The expression of Syntaxin-1 at mRNA or protein level did not change significantly among groups (P>0.05). Compared with the control group, the protein expression of Munc13-1 decreased and that of Munc18-1 increased with the increase of manganese concentration (P<0.05). Compared with the low-dose manganese group, the changes of Munc13-1 protein in the high-dose manganese group and Munc18-1 protein in the medium- and high-dose manganese groups had statistical significance (P<0.05). Compared with the medium-dose manganese group, the protein changes of Munc18-1 in the high-dose manganese group were statistically significant (P<0.05). The correlation analysis showed that MnCl₂ dose was negatively correlated with Munc13-1 protein expression (r=−0.898, P<0.05), and positively correlated with Munc18-1 protein expression (r=0.678, P<0.05). Dopamine secretion was positively correlated with Munc13-1 protein expression (r=0.932, P<0.05), and negatively correlated with Munc18-1 protein expression (r=−0.817, P<0.05). Conclusion The inhibition of dopamine secretion in SH-SY5Y cells induced by manganese exposure is related to up-regulation of Munc18-1 and down-regulation of Munc13-1 expression levels, which may be one of the reasons for nerve injury caused by manganese.

OBJECTIVETo observe the clinical efficacy of drug toothpaste containing 2% Zanthoxylum Nitidum extract in reducing accumulation of dental plaque and occurrence of gingivitis in adults.

METHODSAdopting double-blind, stratified and parallel design, the status of dental plaque and gingivitis in 200 healthy adults enrolled in the trial (100 in the treated group took the drug toothpaste to clean teeth, and 100 in the control group use common toothpaste instead) were assessed at before experiment, 3 months and 6 months after experiment.

RESULTSAt the end of the 3rd month and the 6th month, as compared with the control group, the L e-Silness Gingival Index (GI) in the treated group was decreased by 9.1% (P > 0.05) and 13.9 % (P< 0.5), in the same period, the Quigley-Hein(Turesky Modification) Plaque Index (PlI) decreased by 18.7% and 22.6% (P<0.05), respectively.

CONCLUSIONToothpaste containing Zanthoxylum Nitidum extract can obviously decrease the incidence of dental plaque and enhance gingival health.

Adolescent ; Adult ; Aged ; Dental Plaque ; drug therapy ; Double-Blind Method ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Gingivitis ; drug therapy ; Humans ; Male ; Middle Aged ; Phytotherapy ; Toothpastes ; chemistry ; Zanthoxylum ; chemistry

Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half year old boy with an intellectual disability, speech and language delay and motor disturbance. Methods: A brain magnetic resonance imaging (MRI) and a proton magnetic resonance spectroscopy (MRS) were carried out, the creatine and creatinine concentrations in the urine were checked and all exons were sequenced. Results: A detailed clinical investigation revealed a reduction in the cerebral creatine levels in the brain by the MRS, elevated creatine and creatinine concentrations in the urine and signal abnormalities in the left frontal cortex of the brain by the MRI. A novel change was identified in the heterozygosity of the exon 10: c.1395-c.1401 deletion. Conclusion: The use of a combination of powerful new technologies, such as thorough exome-nextgeneration sequencing and a brain MRS, should be considered, in order to determine any neurometabolic diseases, especially when the signal abnormalities in the brain MRI cannot be explained by any other factors. This mutation results most likely in a dysfunction of the creatine transport and synthesis, hence causing central nervous system symptoms.
Carrier Proteins

Animals ; Brain-Derived Neurotrophic Factor ; pharmacology ; Cell Movement ; drug effects ; Cell Proliferation ; drug effects ; Cells, Cultured ; Chick Embryo ; Chorioallantoic Membrane ; blood supply ; Endothelial Cells ; cytology ; drug effects ; physiology ; Female ; Humans ; Mice ; Mice, Inbred C57BL ; Neovascularization, Physiologic ; drug effects ; Vascular Endothelial Growth Factor A ; pharmacology

Appropriate selection and measurement of lead biomarkers of exposure are critically important for health care management purposes, public health decision making, and primary prevention synthesis. Lead is one of the neurotoxicants that seems to be involved in the etiology of psychologies. Biomarkers are generally classified into three groups: biomarkers of exposure, effect, and susceptibility.The main body compartments that store lead are the blood, soft tissues, and bone; the half-life of lead in these tissues is measured in weeks for blood, months for soft tissues, and years for bone. Within the brain, lead-induced damage in the prefrontal cerebral cortex, hippocampus, and cerebellum can lead to a variety of neurological disorders, such as brain damage, mental retardation, behavioral problems, nerve damage, and possibly Alzheimer's disease, Parkinsons disease, and schizophrenia. This paper presents an overview of biomarkers of lead exposure and discusses the neurotoxic effects of lead with regard to children and adults.
Alzheimer Disease ; chemically induced ; metabolism ; pathology ; physiopathology ; psychology ; Animals ; Behavior ; drug effects ; Biomarkers ; metabolism ; Brain ; metabolism ; pathology ; physiopathology ; Brain Diseases ; chemically induced ; pathology ; physiopathology ; Environmental Exposure ; adverse effects ; Humans ; Lead ; pharmacokinetics ; toxicity ; Lead Poisoning ; etiology ; metabolism ; pathology ; physiopathology ; psychology ; Neurotoxicity Syndromes ; etiology ; metabolism ; pathology ; physiopathology ; psychology ; Parkinson Disease, Secondary ; chemically induced ; metabolism ; pathology ; physiopathology ; psychology ; Schizophrenia ; chemically induced ; metabolism ; pathology ; physiopathology