Objective To pay attention to screening family disease and gene examination in patient with congenital adrenal hyperplasia (CAH). Method In this study, we investigated clinical data and performed gene sequencing of the pedigree and his family members with CAH. Results Based on clinical data, 3 of 6 family members were diagnosed CAH. Bone age of two boys nearly reach the maximum value. Genetic sequencing result indicated a T>A mutation of 1 004 position in CYP21A2 gene, which induced protein change I172N. Conclusion Disease screening and gene examine should be actively executed in patient with CAH in order to obtain diagnosis and start treatment as early as possible.

The corneal transparency is one of the important basic conditions for realizing normal physiological functions of visual organs. Also corneal endothelial cells are important conditions for maintaining normal corneal transparency. Therefore, only to ensure the morphology and physiological integrity of the corneal endothelial, can have normal vision. However, intraocular surgeries inevitably cause damage to corneal endothelial cells. This paper will review the effects of glaucoma surgery on corneal endothelial cells.

To study the effect of cholesterol and 25-OH-cholesterol on cholesterol metabolism in HepG2 cells and the effect of coptisine (Cop) extracted from Coptidis Rhizoma (CR) in reducing and regulating cholesterol. In this study, TC, TG, LDL-c and HDL-c were measured by biochemical analysis; mRNA and protein expressions of LDLR, HMGCR and CYP7A1 were detected by qRT-PCR and Western blot. According to the results, cholesterol and 25-OH-cholesterol inducing could decrease in mRNA and protein expressions of LDLR and CYP7A1, so as to increase TC and LDL-c contents. However, Cop could up-regulate mRNA and protein expressions of LDLR and CYP7A1 and down-regulate that of HMGCR, so as to reduce TC and LDL-c levels. These findings suggested that Cop has potential pharmacological activity for reducing cholesterol, and may reduce cholesterol by regulating mRNA and protein expressions of key genes involved in cholesterol metabolism, such as LDLR, CYP7A1 and HMGCR. This study laid a firm theoretical foundation for developing new natural drugs with the cholesterol-lowering activity.
Berberine ; analogs & derivatives ; pharmacology ; Cholesterol ; metabolism ; Cholesterol 7-alpha-Hydroxylase ; genetics ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Gene Expression Regulation, Enzymologic ; drug effects ; Hep G2 Cells ; Humans ; Hydroxymethylglutaryl CoA Reductases ; genetics ; metabolism ; Receptors, LDL ; genetics ; metabolism ; Triglycerides ; metabolism

OBJECTIVETo investigate the effects of different concentrations of lipopolysaccharide (LPS), tumor necrosis factor α (TNFα), interleukin-6 (IL-6), dexamethasone (Dex), and insulin on the mRNA and protein expressions of GPR54 in the MCF7 cell line in vitro.

METHODSMCF7 breasr cancer cells were cultured and treated with different concentrations of LPS (10 and 20 µg/ml), TNFα (20 and 100 ng/ml), IL-6 (10 and 20 ng/ml), Dex (10(-6) and 10(-7) mol/L), and insulin (0.01 and 0.1 IU/L). Those treated with culture fluid only served as controls. The mRNA and protein expressions of GPR54 were measured by real-time PCR and Western blot, respectively, after 6, 24, 48, and 72 hours of treatment.

RESULTSCompared with the blank con- trol, LPS (10 and 20 µg/ml), TNFα (20 and 100 ng/ml), IL-6 (10 and 20 ng/ml), Dex (10(-6) and 10(-7) mol/L), and insulin (0.01 and 0.1 IU/L) significantly increased the expressions of GPR54 mRNA (P < 0.05) and protein (P < 0.05).

CONCLUSIONLPS, TNFα, IL-6, Dex, and insulin evidently increase the expression of GPR54 in the MCF7 cell line, indicating their influence on the function of gonads by regulating the GPR54 level.

Blotting, Western ; Dexamethasone ; administration & dosage ; pharmacology ; Glucocorticoids ; administration & dosage ; pharmacology ; Gonads ; drug effects ; metabolism ; Humans ; Hypoglycemic Agents ; administration & dosage ; pharmacology ; Insulin ; administration & dosage ; pharmacology ; Interleukin-6 ; administration & dosage ; pharmacology ; Lipopolysaccharides ; administration & dosage ; pharmacology ; MCF-7 Cells ; RNA, Messenger ; metabolism ; Real-Time Polymerase Chain Reaction ; Receptors, G-Protein-Coupled ; drug effects ; genetics ; metabolism ; Receptors, Kisspeptin-1 ; Time Factors ; Tumor Necrosis Factor-alpha ; administration & dosage ; pharmacology

Objective To investigate the expression and significance of mRNAand exon mutationof NT5C2 gene in acute lymphoblastic leukemia (ALL) bone marrow.Methods Case control study design was used in this study.Bone marrow samples were collected from ALL patients in Anhui Provincial Cancer Hospital in recent 4 years.The patientswere divided into the initial diagnosis group , the complete remission group and the recurrence group.And they could specifically be divided into 36 patients initially diagnosed, 36 patients who achievedcomplete remission and 16 patients who relapsed with children B -ALL,15 patients initially diagnosed,15 patients who achievedcomplete remission and 9 patients who relapsed with children T -ALL, 18 patients initially diagnosed,18 patients who achievedcomplete remission and 12 patients who relapsed with adult B-ALL, and 11 patients initially diagnosed,11 patients who achievedcomplete remission and 6 patients who relapsed with adult B -ALL.The initial diagnosis,complete remission and recurrence samples were matched.8 children and 8 adults without hematologic malignanciewere used as controls .Real-time PCR was performed to detect the level of NT5C2 mRNAin ALL patients.The exons of NT5C2 gene were cloned and sequenced for the common mutations in all cases .The results of NT5C2 mRNA levels in different groups were performed using non -parametric test by SPSS16.0 analytics software, and then non-parametric test together with correlation analysis was analyzed between NT 5C2 mRNA levels of different initial diagnosis groups and gender, age, leukocyte level and risk classification .Results (1)The expression of NT5C2 mRNA levels of recurrence group were higher than that of initial diagnosis group ,complete remission group and controls in children and adult B -ALL respectively(P <0.01).(2)NT5C2 mRNA expression in children and adult T-ALL showed no difference in initial diagnosis ,complete remission, recurrence group and controls (P >0.05).(3)NT5C2 mRNA expression of initial diagnosis group in children and adult B -ALL and T-ALL was not correlated with risk classification (P >0.05).(4)A newheterozygousmutation p.P414A of NT5C2 was discovered in a recurrencesample.Conclusions (1) High expression ofNT5C2 mRNA is associated with recurrence inchildren and adult B-ALL, and it may be an indicator of monitoring recurrence .(2)The incidence of exons mutation of NT5C2 gene in ALL is low in China.

Objective To investigate the relationship between genetic polymorphisms in nucleotide excision repair gene excision repair cross complementing group 6(ERCC6),xeroderma pigmentosum group A(XPA) and coal-burning-borne-arsenism in Guizhou Province.Method ERCC6 A3368G,ERCC6 C-6530G and XPA A23G gene polymorphisms were analyzed by polymerase chain reaction restriction fragment length polymorphism technique(PCR-RFLP) of 205 cases which were chosen as patients with arsenism and 187 residents as control group.Results The distributions of ERCC6 A3368G,ERCC6 C-6530G and XPA A23G in the case group were not statistically significant compared with those of the control group(x2 =3.209,2.963,3.335,all P ＞ 0.05); individuals carrying G allelomorphic gene(AG + GG) had a lower risk than individuals carring A allelomorphic gene(ORadj =0.282,95％CI:0.126-0.628,P =0.002); relationship was not found between single genetic polymorphisms of ERCC6 C-6530G,XPA A23G and coal-burning-borne-arsenism; the risk of arsenism was decreased for individuals carrying the following five genotypes combination:ERCC6 A3368G(AG + GG) genotype and ERCC6 C-6530G CC genotype(ORadj =0.287,95％CI:0.087-0.946,P=0.040); ERCC6 A3368G(AG + GG) genotype and ERCC6 C-6530G(CG + GG) genotype (ORadj =0.226,95％CI:0.077-0.661,P =0.007); ERCC6 A3368G(AG + GG) genotype and XPA A23G AA genotype (ORadj =0.150,95％CI:0.038-0.596,P =0.007); ERCC6 A3368G (AG + GG) genotype and XPA A23G(AG + GG) genotype(ORadj =0.325,95％CI:0.118-0.897,P =0.030) ; ERCC6 C6530G (CG + GG) genotype and XPA A23G AA genotype (ORadj =0.397,95％CI:0.162-0.975,P=0.036).Conclusions Individuals carring ERCC6 A3368G (AG + GG) genotype have a low risk of arsenism.There are five genotypes combination of three gene polymorphisms in two genes,ERCC6 and XPA,which may reduce the risk of coal-burning-borne-arsenism.

AIM:To study the visual acuity and refractive status of students pupils and middle school students in Shenzhen, and to provide a scientific basis for the prevention and control of myopia.
METHODS:A cluster sampling method was used to select five primary school students(6 737) and three junior middle school students(1 925) from Shenzhen. The visual acuity, anterior segment, fundus, eye position, and refractive status were measured. Information on associated factors for poor vision were also obtained using a questionaire. The risk factors of poor vision and the rate of myopia between grade or gender were analysed by Chi-square test.
RESULTS:The rate of poor vision was 67. 0%. Female, family history of high myopia, long time of continuous look near, short time of outdoor activities were the main risk factors. The rate of emmetropia, hyperopia, astigmatism and myopia were 15. 1%, 11. 3%, 11. 0% and 62. 6% respectively. Emmetropia, hyperopia and astigmatism incidenece rate decreased with age growing, but myopia incidence rate was increased. There were significant differences between adjacent two grades in myopia(χ2=7. 338-45. 018, P<0. 05 ) except the primary grade six and the junior grade one. There were significant differences between boys ( 61. 0%) and girls ( 65. 5%) in myopia(χ2=17. 180, P<0. 05).
CONCLUSION:The rate of poor vison is pretty high in students of Shenzhen aged between 5 to 16 years old, and myopia is the main reason. The development rate of myopia is increased with age. Early management of myopia may play an important role in controlling poor vision in students.

OBJECTIVETo probe into an effective therapy for treatment of cerebral palsy of involuntary movement.

METHODSSixty cases were randomly divided into two groups, the control group was treated with routine rehabilitation method (Bobath + Tuina + scalp acupuncture), while the observation group was treated with plum-blossom needle on Governor Vessel and point Jiaji (EX-B 2) on the basis of routine rehabilitation method. After 3 months of treatment, therapeutic effect, total percentage of Gross Motor Function Measurement (GMFM), incurvation reflex and muscular tension fluctuation were compared.

RESULTSThe obvious effective rate of 53.3% (16/30) in the observation group was superior to that of 20.0% (6/30) in the control group (P < 0.05); the total percentage of GMFM increased, incurvation reflex disappeared, muscular tension fluctuation relieved in both groups after treatment (P < 0.05, P < 0.01), but the indices above all improved more significantly in the observation group than those in the control group (P < 0.05, P < 0.01).

CONCLUSIONPlum-blossom needle on Governor Vessel and point Jiaji (EX-B 2) on the basis of routine rehabilitation method for treatment of cerebral palsy of involuntary movement can enhance the gross motor function, make the incurvation reflex disappear effectively, relieve the muscular tension fluctuation.

Acupuncture Points ; Acupuncture Therapy ; methods ; Cerebral Palsy ; physiopathology ; therapy ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Motor Activity ; Needles

OBJECTIVETo evaluate a new type of diatomite-based machinable ceramic biocompatibility by studying its induced apoptosis on L929 cell in contrasted with other prosthodontics materials.

METHODSCell line was treated with extracting liquid containing different concentrations of diatomite-based machinable ceramic and other materials. Flow cytometry tested cell cycle progression and induced cell apoptosis. Annexin V-FITC/PI apoptosis staining kit quantitative detected cell death patterns. The expression of Bcl-2 and Bax mRNA were determined by reverse transcription-polymerase chain reaction.

RESULTSThe experimental groups had no special influence on cell cycle. Apoptosis rates of the new ceramic closed to the negative group (P > 0.05). The apoptosis rate of resin was the highest, and the cell necrosis level of resin was increased, which had significant difference to the new ceramic (P < 0.05). The Bcl-2 and Bax mRNA levels of the new ceramic and the negative group were closed to each other, which had no statistical significance (P > 0.05).

CONCLUSIONThe new diatomite-based machinable ceramic has no apparent cytotoxicity, which is consistent with the clinical application of the basic requirements of biocompatibility.

Animals ; Annexin A5 ; Apoptosis ; Cell Line ; Dental Materials ; Flow Cytometry ; Fluorescein-5-isothiocyanate ; analogs & derivatives ; Mice ; Necrosis

Acute Kidney Injury ; etiology ; Fanconi Syndrome ; etiology ; Female ; Humans ; Lymphoma, Non-Hodgkin ; complications ; Middle Aged