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1.
Chinese Journal of Medical Genetics ; (6): 1176-1179, 2021.
Artigo em Chinês | WPRIM | ID: wpr-922018

RESUMO

OBJECTIVE@#To detect common pathogenic variants associated with congenital deafness among neonates from Huizhou and surrounding areas and discuss its implications.@*METHODS@#Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019.@*RESULTS@#In total 760 neonates were found to carry common pathogenic variants (3.63%). Sixty two neonates have carried homozygous/compound heterozygous variants or homoplasmy/heteroplasmy mutations of mtDNA (0.29%). Further analysis of five abnormal cases revealed that 3 of them have carried compound heterozygous mutations of GJB2 gene, and 2 were due to compound heterozygous variants of the CDH23 gene.@*CONCLUSION@#Genetic testing has a great clinical significance for the prevention and reduction of congenital hearing loss, but the scope needs to be updated and redefined by removing mutation sites with a very low rate, adding new significant sites, and improvement of the technical strategies.


Assuntos
Humanos , Recém-Nascido , Conexina 26 , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Testes Genéticos , Perda Auditiva/genética , Mutação , Triagem Neonatal
2.
Chinese Journal of Medical Education Research ; (12): 1323-1327, 2021.
Artigo em Chinês | WPRIM | ID: wpr-909017

RESUMO

Objective:To develop a scale to assess motivation and use of learning strategies in the course of biochemistry for medical students in the theoretical frame of Zimmerman's cognitive theory.Methods:A total of 62 items was developed in the scale based on the revised motivated strategies for learning questionnaire (MSLQ), and 323 medical students from Shanghai Jiao Tong University School of Medicine were selected as subjects. The collected data were analyzed by item correlation, reliability and exploratory factor analysis.Results:Results of reliability analyses showed that Cronbach's α of the scale and two sub-scales were robust (all greater than 0.8), demonstrating good internal consistency. Results of exploratory factor analysis revealed that three factors in the motivation sub-scale were intrinsic value, self-efficacy and learning anxiety, and eight factors in the strategy sub-scale were critical thinking, organization, rehearsal, learning monitoring, learning planning, learning summarizing, time and study environment management, and peer learning.Conclusion:The reliability and validity of the scale are considered to be good, and the scale is of certain application value to understand self-regulated learning of biochemistry for medical students.

3.
International Journal of Traditional Chinese Medicine ; (6): 38-41, 2018.
Artigo em Chinês | WPRIM | ID: wpr-666254

RESUMO

Objective To study the mechanism of Compound berberineXiaochuangpowder on recurrent oral ulcers,and the anti-inflammatory effect.Methods The mice were divided into blank group, model group, and compound yellow hyalensis with high, medium, low dose group(2, 1, 0.5 g/kg equivalent medicine) and ibuprofen group(0.15 g/kg). Using mouse ear inflammation test by Xylene, To establish recurrent oral ulcer model by immunoassay in Rats, the mold SD rats according to random number table method is divided into blank group, model group, compound coptis sores spirit high, medium and low dose group (1, 0.5, 0.25 g/kg equivalent medicine), levamisole group (20 mg/kg), each group all gastric gavage corresponding drugs, model group, the blank group gastric gavage capacity such as pure water, a total of 30 days, observe the number of ulcers, duration and interval time, and the effection on serum IL-4, IL-8, VEGF level.Results The compound berberineXiaochuang powder high dose may significantly reduce the swelling degree of ears (7.46 ± 1.41 mg, 9.85 ± 2.71 mg vs. 16.25 ± 3.34 mg,P<0.05), reducing the number of ulcers (4.70 ± 1.27, 6.90 ± 3.70 vs. 9.90 ± 5.13,P<0.05), reduce ulcer duration (2.20 ± 1.22 d, 3.00 ± 1.05 d vs. 5.00 ± 1.15 d,P<0.05), prolonged intervals ulcers (8.00 ± 1.63 d, 5.00 ± 1.82 d vs. 2.40 ± 1.26 d,P<0.05). Compound berberineXiaochuang powder high dose can be significantly increased the level of serum IL-4 (68.92 ± 10.58 pg/ml vs. 55.18 ± 6.99 pg/ml, P<0.05) and lowered serum IL-8 (399.86 ± 62.14ng/mlvs. 578.70 ± 72.23 ng/ml,P<0.05); The compound berberine Xiaochuang powder high dose could significantly increase the expression of VEGF (41.41 ± 3.80 pg/ml、37.92 ± 3.48 pg/ml vs. 32.01 ± 4.32 pg/ml,P<0.05).Conclusions The compound berberineXiaochuang powder can increased the level of serum IL-4 and VEGF, reduced the level of IL-8, so as to achieve the treatment of recurrent oral ulcers.

4.
Chinese Journal of Medical Genetics ; (6): 183-186, 2017.
Artigo em Chinês | WPRIM | ID: wpr-335160

RESUMO

<p><b>OBJECTIVE</b>To explore the rules for free fetal DNA clearance after delivery of fetuses carrying chromosomal aneuploidies.</p><p><b>METHODS</b>For 10 women carrying 18-to-25-gestation-week singletons confirmed to have chromosomal abnormalities by amniotic karyotyping, 5 mL of peripheral venous blood was drawn respectively before and 15 minutes, 30 minutes, 60 minutes, 120 minutes, 3 hours, 6 hours, 9 hours, 12 hours, 24 hours, 48 hours and 72 hours after their elective termination of pregnancies. Free fetal DNA was isolated from the plasma and subjected to high throughput sequencing.</p><p><b>RESULTS</b>Statistical analysis of the sequence information showed that the free DNA of fetuses with trisomy 21 or 18 was rapidly cleared after delivery. The average half-life was approximately 1.24 hours within the first 2 hours after delivery. It was then slowly cleared between 6 and 72 hours, with an average half-life of 11.70 hours. No fetal DNA was detectable 72 hours after delivery.</p><p><b>CONCLUSION</b>Free fetal DNA rapidly decreases after delivery and will completely disappear by 72 hours. Above results may provide a basis for clinical application of the non-invasive detection of chromosomal aneuploidies during prenatal diagnosis.</p>


Assuntos
Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Adulto Jovem , Aneuploidia , Aberrações Cromossômicas , Transtornos Cromossômicos , Diagnóstico , Embriologia , Genética , DNA , Genética , Cariotipagem , Diagnóstico Pré-Natal
5.
International Journal of Laboratory Medicine ; (12): 1019-1022, 2017.
Artigo em Chinês | WPRIM | ID: wpr-511907

RESUMO

Objective To evaluate the relationship between the let-7 rs10877887 polymorphism and cancer risk in the Chinese population.Methods We searched all relevant studies published on association between the let-7 rs10877887 polymorphism and cancer risk in PubMed,Embase and Wanfang databases up to December 31,2016 were searched.A total of 4 case-control studies comprising 2 754 cases and 3 481 controls were included in this meta-analysis.The pooled odds ratio (OR) and 95% confidence interval (95%CI) were calculated to examine the strength of the association.Sensitivity analyses were performed to assess the stability of the results,publication bias was also assessed.Results The pooled results showed that there was a significant association between the let-7 rs10877887 polymorphism and overall cancer risk under the dominant model (CC+CT vs.TT:OR=0.90,95%CI=0.82-1.00,P=0.048).Conclusion Base on present studies,the results of this meta-analysis indicated that there is a significant association between the let-7 rs10877887 polymorphism and overall cancer risk in the Chinese population,the let-7 rs10877887 polymorphism could decrease the risk of cancer.

6.
Chinese Journal of Food Hygiene ; (6): 417-422, 2017.
Artigo em Chinês | WPRIM | ID: wpr-607680

RESUMO

Objective To detect 10 kinds of human milk oligosaccharides (HMOS) and compare their amounts during lactational stage.Methods Breast milk samples in different stages of lactation as colostrum (day 0-7 postpartum),transitional milk (day 8-15 postpartum),and mature milk (day 16-180 postpartum) were collected and 10 HMOS in those samples were detected and quantified by ultra high performance liquid chromatography-fluorescence detection after fluorescence labeling by using standard curves.Correlations between HMOS and lactation day were conducted by Person correlation analysis method,while the differences among three stages were calculated by ANOVA test.Results Ten HMOS were successfully separated and quantified under chosen chromatographic parameters.2'FL,3'SL,6'SL,LNT,LNnT and LNFP-I were negatively correlated and 3'FL was positively correlated with lactation days.They were different in three lactational stages (P < 0.05),while P1,LNFP-V and LNnFP-V showed no correlation and difference (P > 0.05).Conclusion The amount of HMOS changed during lactational stages.Seven HMOS were correlated with lactation days and different in three lactational stages (P < 0.05).

7.
The Journal of Clinical Anesthesiology ; (12): 148-150, 2016.
Artigo em Chinês | WPRIM | ID: wpr-492009

RESUMO

Objective To observe the effect of edaravone pretreatment on the lung injury during one lung ventilation of patients undergoing thoracoscopic surgery.Methods Forty male patients diagnosed of lung cancer (aged 47-65 years,height 165-183 cm,weight 64-85 kg,BMI<30 kg/m2 ,ASA gradeⅠorⅡ)who were scheduled for thoracoscopic pulmonary resection surgery were randomly divided into two groups(n =20 each):control group (group C)and edaravone group (group E).In group E edaravone 30mg(dissolution in normal saline 100 ml)was administered within 30 min before surgery.In group C nor-mal saline 100 ml was administered within the same time.PET CO2 and peak airway pressure (Pmax)were recorded during operation,venous blood samples were taken before skin incision and at the end of operation for detection of the concentration of IL-8,IL-10,TNF-α and SP-A.Results There were no significant difference in PET CO2 and Pmax between the two groups..Compared with T1 ,concentration of IL-8,IL-10, TNF-αand SP-A all increased significantly in both groups on T6 (P <0.05).Compared with group C,IL-8, TNF-αand SP-A levels of T6 in group E were lower significantly (P < 0.05 ).There was no significant differences in the levels of IL-10 between the two groups.Conclusion Edaravone can inhibit oxidative stress and inflammatory reaction during one lung ventilation in patients underwent thoracoscopic surgery.

8.
Chinese Journal of Anesthesiology ; (12): 1209-1211, 2013.
Artigo em Chinês | WPRIM | ID: wpr-439999

RESUMO

Objective To evaluate the efficacy of parecoxib sodium for prevention of post-thoracotomy pain syndrome.Methods Ninety ASA physical status Ⅰ or Ⅱ patients,aged 40-64 yr,weighing 50-80 kg,scheduled for elective thoracotomy,were equally and randomly divided into 3 groups using a random number table:control group (group C) and two different treatments with parecoxib sodium groups (P1 and P2 groups).At 20 min before skin incison,parecoxib sodium 40 mg was injected intravenously in P1 and P2 groups,while the equal volume of normal saline was given in group C.An increment of parecoxib sodium 40 mg was given every 12 h for 6 times after surgery in group P2.General anesthesia combined with epidural anesthesia was used during surgery and patient-controlled epidural analgesia was used for postoperative analgesia in the three groups.Morphine was used as rescue analgesic to maintain VAS score ≤ 3.The consumption of morphine within 72 h after operation,development of adverse effects and development and duration of pain (VAS score > 3) within 6 months after operation were recorded.The blood coagulation was measured at 72 h after operation.Results Morphine was not used within 72 h after operation in P2 group.The abnormality of blood coagulation at 72 h after operation was not observed in the three groups.Compared with group C,no significant changes were found in the incidence and duration of pain within 6 months after operation in P1 group (P > 0.05),the incidence of pain was significantly decreased and duration of pain was shortened within 6 months after operation in P2 group,and the incidence of nausea,vomiting and pruritus was decreased in P1 and P2 groups (P < 0.05 or 0.01).The incidence of nausea,vomiting and pruritus was significantly lower in P2 group than in P1 group (P < 0.01).Conclusion Continuous application of parecoxib sodium for 72 h can decrease the development of post-thoracotomy pain syndrome without increasing the incidence of adverse effects.

9.
Journal of Biomedical Engineering ; (6): 1411-1415, 2007.
Artigo em Chinês | WPRIM | ID: wpr-230674

RESUMO

Since epidemiologic studies have reported a modestly increased risk of oncogenesis associated with certain electromagnetic fields (EMF), popular media and scientists have raised concerns about possible health hazards of environmental exposure to EMF. Laboratory-based experiments have shown that a variety of biological responses were induced by EMF, although these results were controversial and conflicting. The non-thermal effects of low energy EMF,the possible interaction of EMF with biological system have become focus topics in the biolectromagnetic fields. This paper focuses on recent studies of static and extremely low frequency electromagnetic fields, especially the interactive mechanism between EMF and cellular membrane and protein kinase signal transduction pathways. The potential genetic toxicity and risk evaluation are also discussed. However, the existence of some positive findings and the limitations in the set of studies suggest a need for more work.


Assuntos
Humanos , Dano ao DNA , Efeitos da Radiação , Campos Eletromagnéticos , Exposição Ambiental , Regulação da Expressão Gênica , Neoplasias Induzidas por Radiação
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