Abstract: Objective　To explore the carrying status of four common deafness genes and mutations on 10 loci in newborns in Hainan, and to analyze the molecular epidemiological characteristics of deafness genes and their loci, so as to provide scientific basis for formulating neonatal deafness gene screening strategy and promoting children's hearing health in Hainan. Methods　Newborns born in Hainan from January 2020 to December 2021 were selected as the research objects. The demographic characteristics of the research objects were collected. At the same time, the plantar blood of newborns was collected, and multiplex PCR amplification and directed hybridization combined with high-throughput sequencing technology were applied to detect 10 mutation loci on 4 common deafness genes. T-test or chi square test was used to process the data. Results　A total of 7 124 newborns were included in the study through informed consent, 219 cases of deafness gene mutation were detected with the detection rate of deafness gene of 3.07%. The detection rates of GJB2, SLC26A4, MT-RNR1 and GJB3 were 1.56% (111/7 124), 1.18% (84/7 124), 0.21% (15/7 124) and 0.11% (8/7 124) respectively. Among the 10 loci of the four genes, the positive detection rate of c.235delC locus of GJB2 was the highest, which was 1.38% (98/7 124), followed by c.919-2A>G of SLC26A4 (0.87%, 62/7 124); 2.63% (113/4 289) of the newborns who passed the preliminary hearing screening still carried the deafness gene; in terms of gene type, the detection rate of GJB2 gene in newborns who failed the hearing screening was higher than that in newborns who passed the hearing screening [2.23% (63/7 124) vs 1.12% (48/7 124)，P<0.01]; in terms of gene loci, the detection rate of c.235delC locus in newborns who failed hearing screening was higher than that in newborns who passed hearing screening [2.09% (59/7 124) vs 0.91% (39/7 124)，P<0.01]. Conclusion　The most common deafness genes types in Hainan were GJB2 and SLC26A4; The most common gene mutation sites were c.235delC and c.919-2A>G; 2.63% of the newborns who passed the preliminary hearing screening still carried the deafness gene, among which the high-risk newborns with MT-RNR1 and GJB3 genes were found. Therefore, hearing screening should be combined with deafness gene screening to improve the detection rate of children at high risk of hearing loss.

Objective To study the expression of KAI1 and CD40 in gastric cancer and their correlation with clinicopathologic features and prognosis.Methods The expression of KAI1 and CD40 of 64 gastric cancer tissues was examinated by S-P immunohistochemieal methods.Results The overall positive rate of KAI1 was 22% in gastric cancer.Expression of KAI1 was positively related to the degree of tumor differentiation,it was negatively related to invasion depth and lymph node metastasis and the tumor clinical stage.The 5-year survival rate of cases with positive expression of KAII was significantly higher than that of cases with negative expression(X~2=42.426,P=0.000).The expression rate of CD40 in gastric cancer tissue was 34%.The expression of CD40 was significantly correlated with metastasis and clinical stage of gastric cancer.The 5-year survival rate of cases with positive expression of CD40 was significantly lower than that of cases with negative expression(X~2=4.841,P=0.028).There is no relationship between KAI1 and CD40 expression in gastric cancer.Conclusion KAI1 is associated with gastric cancer differentiation,invasion and metastasis.CD40 status helps to evaluate metastasis,and predict prognosis of gastric cancer.

Objective To evaluate the difference of the surrounding normal tissue and lesion apparent diffusion coefficient (appar-ent diffusion coefficient,ADC)value in identify malignant and benign breast lesions.Methods There were 65 suspicious malignant breast lesions received by DWI scan and dynamic contrast-enhanced MRI (DEC-MRI)in 64 patients.The ADC value of breast lesions and peripherial glands were respectively measured,and then the difference was calculated.Receiver operating characteristic curve (ROC)analysis was used to evaluate the difference’s performance in identification between benign and malignant breast lesions.Re-sults There were 35 malignant lesions and 30 benign lesions.For the malignant lesions,the optimal threshold values for ADC of breast lesions were 1.28×10-3 mm2/s.The area under the ROC was 92.2%,the sensitivity and specificity were 76.7% and 94.3%.While the optimal threshold values for ADC were 0.63×10 -3 mm2/s in the benign lesions.The area under the ROC was 94.9%,the sensitivity and specificity were 88.6% and 96.7%.Conclusion ADC difference can reduce the influences of individual physiological factors,different machine,scanning parameters,which play an important role in identification between benign and malignant breast lesions.

Objective To observe the Clinical study on the acupuncture ot zhibi 3 in the treatment of non-allergic rhinitis.Methods 20 individuals over 15 years old with non-allgergic rhinitis were prospectively recruited from rhinology clinic and ward of Beijing TongRen Hospital from December 2008 to August 2009.Acupuncture points of treat nasal 3 and the compatibility of Fengchi,Hegu were performed by once a week for 7 weeks.The changes of the total nasal symptom score (TNSS) and the Mini-Rhinoconjunctivitis Quality-of-Life Questionnaire (Mini-RQLQ) were observed at baseline and recertification every week.Results After 7 weeks treatment,we found the fourth week of score in fatigue (0.5±0.2; 2.6±1.2,respectively),embarrassed (1.0±0.3; 3.7-0.3,respectively),sleep (0.8±0.1; 4.1±0.9,respectively)、the quality of life (1.0±0.4; 3.8±0.7,respectively),congestion (0.6±0.4; 2.6± 1.0,respectively),rhinorrhea (1.2±0.5; 4.4±0.7,respectively),sneezing (1.6±0.5; 5.0±0.6,respectively),nasal itching (1.7±0.6; 4.4±0.9,respectively) were significantly improved over 75％ (15/20) compared with the baseline (P＜0.05).However,at the sixth week,congestion,rhinorrhea,sneezing were recurring,especially rhinorrhea,but the benefit effects of acupuncture were more than 55％ comparing with baseline.Contusion Acupuncture of zhibi 3,and Fengchi,Hegu may have the effective effects on non-allergic rhinitis.

Objective To explore the effects of combination of traditional Chinese medicine (TCM)and western medicine on a variety of allergen induced severe perennial seasonal allergic rhinitis patients who were treated invalidly with antihistamines and intranasal flixonase for more than two years.Methods 16 patients with moderate to severe allergic rhinitis who were uncontrolled with antihistamines and intranasal flixonase for one week were treated by combination with TCM of Xin-Yi-Qing-fei San or Gyokubeifu-san mixed formula for two weeks.Nasal symptoms,its effects on the quality of daily life,and telephone follow-up half a year later were evaluated.Mini Rhinoconjunctivitis Quality of Life Questionnaire (Mini-RQLQ) and Nocturnal Rhinoconjunctivitis Quality of Life Questionnaire (NRQLQ) were used to evaluate the quality of life.Results After 2 weeks combination-treatment,the nasal symptoms of congestion,rhinorrhea,sneezing,nasal itching,and nasal obstruction were significantly improved compared with combination-before [(52.0± 11.1)％,(69.1±5.3)％,(68.3±12.3)％,(55.5±10.0)％to (10.9±2.4)％,(8.9±3.2)％,(12.5±4.3)％,(13.2±5.3)％,respectively].The before and after treatment of nasal function of nasal minimum cross-sectional area (MCA),nasal cavity volume (V5) and nasal airway resistance (R75 and R150) respectively were (0.58±0.12)cm2,(0.38 ± 0.23) Pa/cm3 · s-1,(0.44 ± 0.32) Pa/cm3 · s-1,(3.50 ± 2.33) cm2 to (0.48 ± 0.23) cm2,(0.31 ±0.33) Pa/cm3 · s-1,(0.31 ±0.37)Pa/cm3 · s-1,(2.24± 1.03) cm2 (P＜0.01).In addition,findings of patients with nasal symptoms by half year follow-up were significantly better than those of before.Conclusion The interventionof TCM can effectively control the perennial and seasonal severe symptoms of patients with AR,and improve the quality of life of patients.

Objective To explore the relationships of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) with growth of very low birth weight (VLBW) infants in the early postnatal stage. Methods According to the individual gestational age and birth weight, 32 cases of VLBW infants were divided into small for gestational age (SGA) group and appropriate for gestational age (AGA) group. After birth, all the infants were given the same nutritional intake. The body weight, body length, head circumference and body mass index (BMI) were monitored at different time points (d0, d7, d14 and d28 after birth). Serum IGF-1 and IGFBP-3 levels were measured by radiommunoassay, and IGF-1/IGFBP-3 molar ratio was calculated. Results There was no signiifcant difference of body weight, body length, head circumference and BMI between two groups at d0, d7, d14 after birth. Body weight and BMI in SGA group were less than those in AGA group at d28 after birth (P<0.05). The levels of IGF-1, IGFBP-3 and IGF-1/IGFBP-3 in SGA group and IGF-1/IGFBP-3 in AGA group did not change with age after birth. The levels of IGF-1 and IGFBP-3 were increased in AGA group after birth. The level of IGF-1 in AGA group at d14 and d28 after birth was higher than that in AGA group at d0 after birth (P<0.05). The level of IGFBP-3 in AGA group at d28 after birth was higher than that in AGA group at d0 after birth (P<0.05). The levels of IGF-1 and IGFBP-3 in SGA group at d28 after birth were lower than those in AGA group at d28 after birth (P<0.05). Conclusions Serum IGF-1 and IGFBP-3 levels in SGA group are lower than those in AGA group. Low levels of IGF-1 and IGFBP-3 may result in growth retardation.

Objective To observe the distribution and metabolism of arsenic speciation in urine of rats exposed to different concentrations of dimethylaraenic acid (DMA) through drinking water.Methods Thrity six weaning Wistar rats were randomly divided into normal control,low-dose group and high-dose group,12 rats in each group(6 female and 6 male); average body weight of female rats was (60 ± 5)g,and male rats was (50 ± 5)g.All rats of the 3 groups were given DMA at concentrations of 0,100,200 mg/L,respectively,corresponding to their specific groups through drinking water for 10 weeks.Inorganic arsenic(iAs),monomethylarsenic acid(MMA),DMA and trimethylarsenic compound (TMA) in urine were measured by hydride generation trapping and ultrahypothermia coupled with atomic absorption spectrometry.Results After feeding for 10 weeks,the differences of rat urinary concentrations of iAs,MMA,DMA and TMA between normal control,low-dose group and high-dose group were statistically significant(x2 =25.441,25.942,25.751,17.767,all P＜ 0.01).Urinary concentrations of iAs,MMA and DMA(2.541,4.383,24.447 mg/L) of low-dose group were significant higher than those of normal control (0.784,0.000,0.743 mg/L,all P ＜ 0.05) ; iAs,MMA,DMA and TMA(3.978,7.186,35.112,4.518 mg/L) of high-dose group were significantly higher than those of normal control(0.784,0.000,0.743,0.000 mg/L,all P ＜ 0.05).The concentrations increased along with increasing doses of DMA concentrations in drinking water(all P ＜ 0.05).Conclusions After rats are exposed to DMA,most of the DMA are excreted in unchanged form in urine and a small portion of DMA is metabolized into TMA.

A strain was isolated from internal organ of died porcine about 8 weeks with purulent pneumonia,arthritis,pyogenic arthritis and endocarditis in April 2007.Objectives of the study are to confirm the genus of the strain,pathopoiesis,and drug sensitivity.The mainly study methods:the first,the strain was identified by the phenotype and the characteristics of the biochemistry,sequence 16S rDNA genes of the strain was analyzed by molecular biology technology,finally animal experiment and drug sensitivity testing were done.The results of the phenotype and the characteristics of the biochemistry showed that it is greatly similar to Actinomyces hyovaginalis,16S rRNA sequence analysis exhibited the homology achieved to 99.2% com-pared with group III strains of Actinomyces hyovaginalis,and the phyletic evolution analysis also indicated that it has mostly relationship with group III strains of Actinomyces hyovaginalis.Animal experiment dis-covered it has highly pathogenicity to Mus musculus albus;Drug sensitivity testing showed that it is hyper-sensitive to Erycin,Gentamicin and Amikacin.So,the result of the study confirmed that the strain is Actin-omyces hyovaginalis III with the pathogenicity.

Objective To analyze the change of chromosome test level after participating in the inter‐laboratory proficiency test(PT) program of the College of American Pathologists (CAP) .Methods The results for participating in CAP PT during 2011-2014 were analyzed ,the accuracy of the cytogenetic chromosome quality control test in this laboratory was obtained accord‐ing to the CAP evaluation results ,and the effect of CAP external quality assessment item on increasing the chromosome detection level in this laboratory was evaluated by analyzing the chromosome band levels before and after participating in CAP .Results This laboratory participated in CAP PT test for 10 times during 2011-2014 ,a total of 59 cases were analyzed ,the accuracy rate for jud‐ging chromosome karyotype was 100% ,the karyotype description accuracy rate was 95 .1% .The chromosome test results of clinical cases in this laboratory displayed that peripheral blood chromosome abnormal detection rate was 18 .9% and bone marrow chromo‐some abnormal detection rate was 25 .9% ,the abnormal rate of newly diagnosed leukemia was 66 .8% ;the detection failure rates of peripheral blood chromosome and bone marrow chromosome were 0 .5% and 5 .0% respectively ;the detection failure rates of pe‐ripheral blood chromosome and bone marrow chromosome after participating in CAP were decreased ,the chromosome band average level was improved ,showing statistical difference compared with those before participating in CAP (P<0 .01) .Conclusion Partici‐pating in high quality external laboratory assessment item can increase the clinical analytic level of cytogenetic chromosome test .

OBJECTIVE: To detect the expression of bcl-2 and bax genes after heterotopic heart transplantation in rats that died of warm ischemia, and to explore the effect of cariporide on the protection of the ratos non heart-beating donors. METHODS: One hundred and twelve clearing Sprague-Dawley male rats were divided into 7 groups at random (each group contained 16 rats): the control group (Group C), the groups of transplanted hearts after 10, 30, and 45 min of asystolia (Group S10,S30,and S45), and the groups of transplanted hearts after 10,30, and 45 min of asystolia and infused with cariporide(Group SH10,SH30, and SH45).The experimental groups were sacrificed totally by warm ischemia, and heterotopic heart transplantation was processed by the Cuff method. The heart samples of S10,SH10,S30, and SH30 groups were taken at 48 hours after the transplantation, and the heart samples of S45, and SH45 groups were taken just after transplantation. The expression of bcl-2 and bax genes were detected by RT-PCR. RESULTS: The death of rats was affirmed when cardiac electric waves vanished after 9~11 minutes of transsection of abdominal aorta. On the RT-PCR test, the expression of bcl-2 gene was the highest and ROD value was maximum in the control group. The expression of bax gene was the lowest and ROD value was minimum in the control group. The ROD value of bcl-2 genes in S10 and S30 groups was less than that in SH10 and SH30 group. The ROD value was just the opposite, and there was stastistical difference (P<0.05).There was no statistical difference between Group S45 and Group SH45 (P>0.05). CONCLUSION The model of heteroto-pic neck heart transplantation is a convenient animal model for the cardiac muscle protection. Cariporide can suppress the apoptosis of cardiac muscle cells in rats (within 30 min) after death caused by warm ischemia.
Animals ; Apoptosis ; drug effects ; Guanidines ; pharmacology ; Heart Arrest ; Heart Transplantation ; methods ; Ischemia ; physiopathology ; Male ; Myocardium ; pathology ; Neck ; Proto-Oncogene Proteins c-bcl-2 ; biosynthesis ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Sulfones ; pharmacology ; Tissue Donors ; Transplantation, Heterotopic ; bcl-2-Associated X Protein ; biosynthesis