Deafness is a seriously disabling disease affecting the quality of human life and genetic fac-tors account for a large proportion in the pathogenesis of newborn deafness.With the development of genomics technology,molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. Molecular diagnostic technique plays an important role in exploring the pathogenesis,assisting clinical diagnosis and the prenatal diagnosis.In this review,we introduce the common pathogenic gene mutations and the diagnosis of non-syndromic inherited hearing impairment.

Glucose-6-phosphatedehydrogenase( G6PD) is the main regulatory enzyme of pentose-phos-phate pathway,which plays an important role in maintaining the balance of cell energy and redox reactions in the cell. G6PD deficiency is the most common hereditary erythrocyte enzyme deficiency disease. There are no effective treatments for the disease. Currently,the key of control and treatment is to make a definitive diagnosis in time and keep away from related risk factors of the disease. At present,the main clinical diagnostic method is the detection of G6PD enzyme activity,but it is limited in accuracy of detecting the heterozygote females. It has already been confirmed at home and abroad that G6PD heterozygote is a risk factor of neonatal hyperbilirubi-nemia. Thus,the detection method of different genotypes of G6PD deficiency at the same time is urgently needed in clinical diagnosis. This paper reviews on recent research progress of the G6PD deficiency disease.

Integrity of gut barrier is the foundation of the multiple function of intestinal tract to keep normal.Dietary conditionally essential amino acids are major fuels for the small intestinal mucosa as well as important substrates for syntheses of intestinal proteins,nitric oxide and metabolic products,and are required for maintaining intestinal integrity.The article reviewed recent advances in dietary uses of functional amino acids(including glutamine,glutamate,and arginine) to enhance the gut health and immune status of animals.

ObjectiveTo investigate the changes and functions of T lymphocyte subsets,immune globulin and complement in children with mycoplasma pneumoniae pneumonia(MPP) on different disease stages.MethodsThe levels of T Iymphocyte subsets of CD3,CD4,CD8 and immunoglobulin ( IgG,IgA IgM),and complement ( C3,C4 ) in the peripheral blood were detected on acute and recovery stages in 28 children with MPP by flow cytometry and immune nephelometry.Twenty-five healthy children were recruited as control group.ResultsAmong these subjects of MPP children on acute stage,the levels of CD3,CD4,CD8,and CD4/CD8 in the peripheral blood were (58.71 ± 11.63)％,(32.36 ± 8.06)％,(28.19±6.23 ) ％ and 1.15 ± 0.41 respectively,and on recovery stage,the levels of CD3,CD4,CD8,and CD4/CD8 were (61.29 ±10.17)％,(34.14 ±7.22)％,(26.47 ±6.01)％,and 1.29 ±0.37 respectively.Both on acute stage and on recovery stage of MPP children,the levels of CD4,CD4/CD8 were significantly lower than those in control group [ (39.53 ± 6.16 ) ％,1.83 ± 0.49 ],and CD8 was significantly higher compared to thecontrol group( 1.83 ± 0.49 ),P＜0.01.CD3 were lower than that in control group [ (63.03 ± 12.32) ％ ] on acute stage (P＜0.01 ),and no significant difference on recovery stage (P＞0.05).During the acute stage of MPP,IgG [ ( 14.50 ±3.86) g/L] and IgM [ ( 1.67 ±0.56) g/L] were obviously higher than those in control group [ (7.92 ± 2.62 ) g/L,( 1.06 ± 0.32 ) g/L,P＜0.01 ],and C3 [ ( 0.83 ± 0.42 ) g/L ] were obviously lower compared to the control group [ ( 1.37 ± 0.33 ) g/L,P＜0.05].There were no significant differences of IgA and C4 between MPP and control groups ( P＞0.05 ).ConclusionChildren with MPP had celhilar immune and humoral immune disorders.Through the detection of T lymphocyte subsets,immunoglobulin and complement,it will be helpful to judge the effectiveness of clinical treatment,which provides a theoretical basis for the clinical application of immune regulators.

The TLC method was established for identification of Holotricha diomphalia larvae and the HPLC method was used to determine the content of inosine and guanosine in H. diomphalia larvae. The HPLC analysis was performed on a Waters HSS T3（4.6 mm×250 mm, 5 μm） column of with mobile phase consisting of acetonitrile (A) and 0.08% trifluoroacetic acid (B) in gradient elution. The detection wavelength was 260 nm. The flow rate was 1.0 mL·min⁻¹. The column temperature was 30 °C. As a result, TLC identification method had a good reproducibility and highly specificity. The linear equations of inosine and guanosine were in good linear range (r>0.999 8). The average recovery of inosine and guanosine was 96.53% (RSD=1.6%), 99.71% (RSD=2.7%). The method is simple, accurate and reproducible, which can provide a basis for quality standard improvement H. diomphalia larvae.

Objective To retrospectively analyze the result of HCMV‐DNA of breast milk and urine of neonatal hyperbilirubi‐nemia and evaluate the effect on screening neonatal hyperbilirubinemia .Methods Collected 461 cases of neonatal hyperbilirubinemia from January 2014 to December 2014 in our hospital ,which fed with breast milk as observation group ,at the same period collected 450 cases of healthy newborn in our hospital as control group .Tested the their level of HCMV‐DNA in breast milk and urine with Fluorescent Quantitative PCR ,recorded the testing results .Results 239 cases with positive HCMV‐DNA urine were detected in observation group ,accounting for 51 .8% .There were 89 cases of positive HCMV‐DNA urine in control group ,which accounted for 19 .8% ,the comparative difference was statistically significant(P< 0 .01) .There were 367 cases of positive HCMV‐DNA breast milk in observation group ,accounting for 79 .6% .The positive HCMV‐DNA breast milk were detected in 137 cases in control group ,which accounted for 30 .4% ,the comparative difference was statistically significant (P<0 .01) .Conclusion The breast milk of HCMV infection was an important way of neonatal HCMV infection ,the HCMV‐DNA detection of breast milk and urine was of great significance to the diagnosis of neonatal hyperbilirubinemia .

Objective To evaluate the value of detecting HCMV-DNA in urine in the diseases of newborn babies ,by comparing the result between HCMV-DNA in urine and HCMV-IgM antibody in blood in different diseases of the newborn babies .Methods The urine and blood samples were collected from 1 520 infants who were in hospital of the neonate department from January 2013 to December 2014 .The HCMV-DNA in urine was examined by fluorescence quantitative polymerase chain reaction(FQ-PCR) .And HCMV-IgM antibody in blood was examined by the method of chemiluminescence(ECL) .Results In the 1 520 cases ,153 had de-tectable HCMV-DNA in their urine samples with a positive rate 10 .07% ,while only 4 cases were positive of the HCMV-IgM anti-body in blood with a positive rate 0 .27% .The two groups was statistically significant difference (P<0 .05) .In the infant diseases of 1 520 cases ,the positive rate of HCMV-DNA in urine was 82 .6% of the hepatitis syndrome while the positive rate of HCMV-IgM antibody in blood was 3 .85% .The positive rate of HCMV-DNA in urine was 8 .95% in the jaundice symptoms ,while the posi-tive rate HCMV-DNA in urine was 4 .62% in the pulmonary infection .Each group of disease was statistically significant difference in the positive rate of HCMV-DNA (P<0 .05) .Conclusion The detection of HCMV-DNA in urine is more beneficial to the diag-nosis of HCM V infection of infants than the detection of HCM V-IgM antibody in blood ,especially in hepatitis syndrome ,neonatal jaundice and pulmonary infection .

Objective To retrospectively analyze the result of hemoglobin(Hb)test by using full-automatic Hb electrophoresis and evaluate the its significance in hemoglobinopathy.Methods The data of patients who underwent Hb electrophoresis test and regular blood tests in the hospital from January 2011 to December 2013 were included in the study.The test results were recorded including mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and results of Hb electrophoresis test.Final diag-nosis were made for suspected patients by using genetic testing,then disease detection rates and gene coincidence rates and constitu-ent ratios were calculated.Results 12 898 cases were included in the study,after statistical analysis the MCV was(85.32±13.61) fL,MCH was(29.87±6.44)pg.By using automatic hemoglobin electrophoresis,1 315 cases were found to be positive,in which 568 were male,747 were female,the detection rate was 10.19%.In the 1 315 patients,there were 761 cases suspectedα-thalassemia,ac-counted for 5.90%.There were 495 cases of suspectedβ-thalassemia,accounted for 3.84%,11 patients with HbJ(0.08%),15 pa-tients with HbK(0.12%),9 patients with HbG(0.07%),3 patients with HbD(0.02%),21 patients with HbE(0.16%).The sus-pected case′s final diagnosis were made by using genetic testing,α-thalassemia gene′s coincidence rate was 80.55%,β-thalassemia gene′s coincidence rate was 96.77%.Conclusion Automatic hemoglobin electrophoresis detection is of great significance for the di-agnosis of hemoglobinopathy.

ObjectiveTo explore the current status of academic stress， self-control and mobile game addiction among middle school students， and to test the mediating role of self-control. MethodsA total of 750 middle school students were enrolled by convenient sampling method， and were assessed using Academic Pressure Questionnaire， Self-Control Scale （SCS） and Mobile Game Addiction Scale. Thereafter， the mediating effect of self-control on the association between academic stress and mobile game addiction was analyzed with PROCESS mediating effect test. ResultsA total of 682 middle school students completed the survey. The scores of Academic Pressure Questionnaire， SCS and Mobile Game Addiction Scale of the selected middle school students were （58.56±11.34）， （38.42±6.94） and （34.23±12.14）， respectively. The total score and each dimension score of Academic Pressure Questionnaire were positively correlated with the total score of Mobile Game Addiction Scale （r=0.189~0.259， P<0.01）， and negatively correlated with the SCS score （r=-0.348~-0.196， P<0.01）. The total score and each dimension score of Mobile Game Addiction Scale were negatively correlated with SCS score （r=-0.336~-0.252， P<0.01）. Academic stress could predict self-control negatively （β=-0.205， t=-9.288， P<0.01） and predict mobile game addiction positively （β=0.281， t=7.084， P<0.01）. Meantime， self-control could predict mobile game addiction negatively （β=-0.480， t=-7.238， P<0.01）. With self-control as a mediator variable， academic stress still significantly predicted the mobile game addiction （β=0.182， t=4.492， P<0.01）. ConclusionThe academic pressure， self-control and mobile game addiction of middle school students are all at the lower middle level， moreover， self-control has a partial mediating effect between academic pressure and mobile game addiction.

ObjectiveTo discuss the relationship between general self-efficacy and mobile game addiction among middle school students， and to analyse the mediating role of time management disposition. MethodsFrom November 2020 to February 2021， a sample of 667 students were recruited from three middle schools in Jiangxi and Sichuan provinces using cluster sampling method. All selected students were assessed using General Self-Efficacy Scale （GSES）， Mobile Game Addiction Scale and Adolescence Time Management Disposition Inventory （ATMD）. Further， Bootstrap method was used to test the mediating effect. Results①The total score of Mobile Game Addiction Scale was negatively correlated with the total scores of GSES and ATMD （r=-0.122， -0.333， P<0.01）. The total score of ATMD was positively correlated with the total score of GSES （r=0.536， P<0.01）. ②General self-efficacy and time management disposition could predict the mobile game addiction negatively （β=-0.333， -0.122， P<0.01）， and general self-efficacy could predict the time management disposition positively （β=0.536， P<0.01）. ③Time management disposition played a full mediating role between general self-efficacy and mobile game addiction， with a mediating effect size of -0.159 （95% CI： -0.213~-0.112， P<0.01）， accounting for 70.38% of the total effect. ConclusionGeneral self-efficacy indirectly affects mobile game addiction via time management disposition.