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1.
Chinese Journal of Medical Genetics ; (6): 958-961, 2020.
Article in Chinese | WPRIM | ID: wpr-827766

ABSTRACT

OBJECTIVE@#To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou.@*METHODS@#Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray.@*RESULTS@#In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time.@*CONCLUSION@#The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.

2.
Pakistan Journal of Pharmaceutical Sciences. 2016; 29 (3): 1095-1100
in English | IMEMR | ID: emr-181431

ABSTRACT

To investigate the effect and safety of dexmedetomidine applied for patient-controlled sedation under combined spinal anesthesia. 150 cases who would be implemented lower limbs operations were randomly divided into patient-controlled sedation group [Group PCS] and control group [Group C] and 75 cases for each group. The ages of patients were between 18 and 65 years old and patients were with American Society of Anesthesiologists [ASA] or level. After being implemented combined spinal anesthesia, patients of Group PCS were undergone patient-controlled sedation by using dexmedetomidine [4micro g/mL] with 2mL of load quantity, 1.5ml of background infusion quantity, 0.5mL of single dose and 20s of locking time; patients of Group C were constantly infused the normal saline at the rate of 10ml/h by pump injection. HR, MAP, SpO2, Ramsay sedation scores and airway scores before the pump injection [T[0]], 10 min [TO, 3 min [T[2]], 5 min [T[3]], 7min [T[4]] and 10min [T[5]] after the pump injection, at the beginning of operations [T[6]], 10min[T[7]] after the operations and in the end of operations [T[8]] of patients of two groups were respectively recorded. At the same time, the pressing numbers and doses of dexmedetomidine of patients of Group PCS were observed. Compared with the HR at TO, HR in Group PCS obviously decreased between T[1] and T[8] [P0.05]. Compared with HR in Group C, HR in Group PCS obviously slowered between Tl and T[8] [P0.05]. Compared with the MAP at T[0], MAP in Group PCS gradually increased between T[1] and T[3] and gradually reduced between T[5] and T[8] [P0.05]. MAP between T[5] and T[8] in Group PCS were significantly lower than those in Group C [P0.05]. Between T[3] and T[7], there were 51, 72, 74, 73, 72 patients in Group PCS whose Ramsay scores were from 3 to 4 points respectively. During the process of patient-controlled sedation of patients in Group PCS, the pressing times were 112.10 +/- 65. 79 times. The effective pressing numbers were 21.00 +/- 9. 07 times. The patient-controlled dosages were [15.12 +/- 3.19] ml; The dosages were 11.29 +/- 2.16ml when the level of sedation achieved 3 to 4 scores in Ramsay sedation scores; And the required time to achieve 3 to 4 scores in Ramsay sedation scores was 7.55 +/- 1.53 min. In the lower limbs operations, the usage of dexmedetomidine applied for patient-controlled sedation under combined spinal anesthesia can effectively approach to the personalized medicine and is effective in clinical application

3.
Chinese Journal of Obstetrics and Gynecology ; (12): 652-657, 2015.
Article in Chinese | WPRIM | ID: wpr-478865

ABSTRACT

Objective To investigate if women with subclinical hypothyroidism (SCH), positive thyroid gland peroxidase antibody(TPOAb) in early pregnancy accepted treatment or not had effect on perinatal outcomes. Methods 15 000 pregnant women who delivered in Women and Infants Hospital of Zhengzhou from January 1, 2013 to June 30, 2014 were recruited retrospectively. Among them, 2 042 women had SCH in early pregnancy. The diagnostic standard of SCH was serum free thyroxine (FT4) between 12.91-22.35 pmol/L and TSH level between 5.22-10.00 mU/L. TPOAb level ≥34 U/L was defined as positive result. The 2 042 patients with SCH were divided into the treated group (1 236 cases) and the untreated group (806 cases), according to whether or not women accepted the levothyroxine treatment. Meanwhile, the 2 042 patients with SCH were divided into the TPOAb (+) treated group (1 021 cases), the TPOAb (+) untreated group (201 cases), the TPOAb (-) treated group (215 cases) and the TPOAb (-) untreated group (605 cases), according to the TPOAb result and acceptance the levothyroxine treatment. 2 000 pregnant women with normal thyroid function who delivered in the same period were selected as the control group. Perinatal outcomes were analyzed. Results (1) The incidence of SCH in early pregnancy was 13.61%(2 042/15 000). 60.53%(1 236/2 042) accepted levothyroxine treatment and 39.47%(806/2 042) did not. (2) The incidence of abortion (5.71%, 46/806), premature delivery (6.20%, 50/806), gestational hypertension disease (13.90%, 112/806), gestational diabetes mellitus (GDM;6.58%, 53/806), fetal growth restriction (FGR;12.28%, 99/806)and low birth weight infants (10.17%, 82/806)in the untreated group were higher than those in the treated group [3.96%(49/1 236), 4.21%(52/1 236), 10.76%(133/1 236), 4.13%(51/ 1 236), 8.90%(110/1 236), 7.52%(93/1 236), respectively] and the control group [3.60% (72/2 000), 4.00%(80/2 000) , 10.70%(214/2 000) , 3.80%(76/2 000), 9.60%(192/2 000), 7.50%(150/2 000), respectively]. The differences were statistically significant (P0.05). (3)The incidences of abortion (11.44%, 23/201), premature delivery (12.44%, 25/201), gestational hypertension disease (22.89%, 46/201), GDM (8.46%, 17/201), FGR (19.90%, 40/201) and low birth weight infants (16.42%, 33/201) in the TPOAb (+) untreated group were higher than those in TPOAb (+) treated group [4.02% (41/1 021), 4.21% (43/1 021), 10.77% (110/1 021), 4.11% (42/1 021), 8.72% (89/1 021), 7.35%(75/1 021), respectively] and the control group, with statistically significant differences (P0.05). (4)There were no statistically significant difference (P> 0.05) in the incidence of abortion (3.72%, 8/215), premature delivery (4.19%, 9/215), gestational hypertension disease (10.70%, 23/215), GDM (4.19%, 9/215), FGR (9.77%, 21/215) or low birth weight infants (8.37%, 18/215) among the TPOAb (-) treated group, the TPOAb (-) untreated group [3.80% (23/605), 4.13%(25/605), 10.91%(66/605), 5.95%(36/605), 9.75%(59/605), 8.10%(49/605), respectively] and the control group. Conclusions (1) The incidence of abortion, premature delivery, gestational hypertension disease, GDM, FGR and low birth weight infants could be increased in women with SCH in early pregnancy.(2) Thyroxine treatment could reduce the incidence of pregnancy complications in women with SCH in early pregnancy. Objective To investigate if women with subclinical hypothyroidism (SCH), positive thyroid gland peroxidase antibody(TPOAb) in early pregnancy accepted treatment or not had effect on perinatal outcomes. Methods 15 000 pregnant women who delivered in Women and Infants Hospital of Zhengzhou from January 1, 2013 to June 30, 2014 were recruited retrospectively. Among them, 2 042 women had SCH in early pregnancy. The diagnostic standard of SCH was serum free thyroxine (FT4) between 12.91-22.35 pmol/L and TSH level between 5.22-10.00 mU/L. TPOAb level ≥34 U/L was defined as positive result. The 2 042 patients with SCH were divided into the treated group (1 236 cases) and the untreated group (806 cases), according to whether or not women accepted the levothyroxine treatment. Meanwhile, the 2 042 patients with SCH were divided into the TPOAb (+) treated group (1 021 cases), the TPOAb (+) untreated group (201 cases), the TPOAb (-) treated group (215 cases) and the TPOAb (-) untreated group (605 cases), according to the TPOAb result and acceptance the levothyroxine treatment. 2 000 pregnant women with normal thyroid function who delivered in the same period were selected as the control group. Perinatal outcomes were analyzed. Results (1) The incidence of SCH in early pregnancy was 13.61%(2 042/15 000). 60.53%(1 236/2 042) accepted levothyroxine treatment and 39.47%(806/2 042) did not. (2) The incidence of abortion (5.71%, 46/806), premature delivery (6.20%, 50/806), gestational hypertension disease (13.90%, 112/806), gestational diabetes mellitus (GDM;6.58%, 53/806), fetal growth restriction (FGR;12.28%, 99/806)and low birth weight infants (10.17%, 82/806)in the untreated group were higher than those in the treated group [3.96%(49/1 236), 4.21%(52/1 236), 10.76%(133/1 236), 4.13%(51/ 1 236), 8.90%(110/1 236), 7.52%(93/1 236), respectively] and the control group [3.60% (72/2 000), 4.00%(80/2 000) , 10.70%(214/2 000) , 3.80%(76/2 000), 9.60%(192/2 000), 7.50%(150/2 000), respectively]. The differences were statistically significant (P0.05). (3)The incidences of abortion (11.44%, 23/201), premature delivery (12.44%, 25/201), gestational hypertension disease (22.89%, 46/201), GDM (8.46%, 17/201), FGR (19.90%, 40/201) and low birth weight infants (16.42%, 33/201) in the TPOAb (+) untreated group were higher than those in TPOAb (+) treated group [4.02% (41/1 021), 4.21% (43/1 021), 10.77% (110/1 021), 4.11% (42/1 021), 8.72% (89/1 021), 7.35%(75/1 021), respectively] and the control group, with statistically significant differences (P0.05). (4)There were no statistically significant difference (P> 0.05) in the incidence of abortion (3.72%, 8/215), premature delivery (4.19%, 9/215), gestational hypertension disease (10.70%, 23/215), GDM (4.19%, 9/215), FGR (9.77%, 21/215) or low birth weight infants (8.37%, 18/215) among the TPOAb (-) treated group, the TPOAb (-) untreated group [3.80% (23/605), 4.13%(25/605), 10.91%(66/605), 5.95%(36/605), 9.75%(59/605), 8.10%(49/605), respectively] and the control group. Conclusions (1) The incidence of abortion, premature delivery, gestational hypertension disease, GDM, FGR and low birth weight infants could be increased in women with SCH in early pregnancy.(2) Thyroxine treatment could reduce the incidence of pregnancy complications in women with SCH in early pregnancy.

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