ObjectiveTo explore ultrasonographic featurs of nuchal skin of normal fetus in its thickness and changes.MethodsThe thickness of nuchal skin of 900 normal fetal was measured by abdominal ultrasound with 7.5 MHz probe.ResultsThe nuchal skin only displayed whole layer before pregnant 27 weeks. After pregnant 27 weeks, the derma and subderma layer was distinguishable, the whole thickness of nuchal skin was ( 1.18 ? 0.05 )mm (10 weeks) to ( 6.01 ? 0.46 )mm (40 weeks) in normal fetus. All layers of nuchal skin were increased proportionally with gestation [r= 0.973 (whole layer), P 0.05 ).Conclusions The abnomal chromosome of fetus could be sifted by the thickness of nuchal skin and the character of sonographic image. It′s a useful diagnostic method for eugenics.

Objective To investigate the molecular epidemiology of GJB2 mutations as a causative effect of prelingual deafness in northwestern China. Methods The medical history of 274 deaf-mute students was collected. Blood samples were obtained from them with informed consent. GJB2 gene sequences of genomic DNAs were amplified by polymerase chain reaction (PCR) with a pair of primers, and bidirectional sequencing of PCR products was performed and analyzed with DNAStar Software. Results A total number of 274 deaf-mute students were diagnosed as non-syndromic hearing impairment, and profound prelingual deafness. Two kinds of polymorphism, seven pathologic mutations and one novel mutation were revealed in the GJB2 screenings of them, and 79G→A and 341A→G were polymorphism with high frequency. Conclusion GJB2 gene mutation is the causative gene in the prelingual deafness with a high incidence of 10.95% in northwestern China. Based on the investigation, it is clear that screening of GJB2 gene mutation should play a significant role in early diagnosis of deaf-mutism in this region.

Objective To investigate the role of rotational alignment reference landmarks of the proximal tibia in total knee arthroplasty.Methods Fifteen healthy adult volunteers were enrolled in this study,including 10 males and 5 females,aged from 21 to 38 years (average,28.1±6.0).CT scans of 26 knees were taken as the knees were placed in full extension.Two anteroposterior axes were drawn on the CT images:one line connected the middle of the posterior cruciate ligament insertion site and the medial edge of the patellar tendon,and another line connected the middle of the posterior cruciate ligament insertion site and the middle-medial 1/3 of the patellar tendon.The surgical epicondylar axis was also drawn on the CT images.Angles were measured between a line perpendicular to the surgical epicondylar axis and the two anteroposterior axes,and the angles were compared with the ideal tibial rotational alignment reference axis (0°).Results Angles between the line perpendicular to the surgical epicondylar axis and the line connecting the middle of the posterior cruciate ligament insertion site and the medial edge of the patellar tendon averaged 0.7°±2.8° (range,-5.1°-5.8°),there was no significant difference compared with 0°.Angles between the line perpendicular to the surgical epicondylar axis and the line connecting the middle of the posterior cruciate ligament insertion site and the middle-medial 1/3 of the patellar tendon averaged 6.9°±5.3° (range,-3.4°-14.1°),there was significant difference compared with 0°.Significant difference existed in angles between the two anteroposterior axes and the line perpendicular to the surgical epicondylar axis.Conclusion The line connecting the middle of the posterior cruciate ligament insertion site and the medial edge of the patellar tendon is a more reliable reference axis for the tibial component rotational alignment,which makes the femoral and tibial components in a more matching rotational position.

Objective To evaluate the performance of emergency test and the applicability under complex field conditions of biochemical modules of field point-of-care test ( POCT ) system ( type A ) .Methods The precision and anti-interference ability of albumin ( ALB ) , total bilirubin ( TBIL ) , alanine transaminase ( ALT ) , aspartate transaminase (AST),blood area nitrogen(BUN),creatinine(CREA),uric acid(UA),lactate dohydrogenase(LDH),creatine kinase ( CK) ,and glucose( GLU) detected by field POCT system( A) were analyzed according to standards formulated by National Committee for Clinical Laboratory Standards(NCCLS).Field POCT system(A) and Coulter Beckman AU2700 automatic biochemical analyzer were used to detect the serum of 22 clinical cases respectively.After simulating the field environment by adjusting the temperature and humidity, we compared the results of mixed serum under different environment conditions. Results The coefficients of variation in total precision of ALB,TBIL,ALT,AST,BUN,CREA,UA,LDH,CK,and GLU detected by field POCT system(A) were 3.34%,6.54%,6.01%,4.80%,3.95%,5.59%,3.33%,6.19%,7.40%,and 4.56%(LevelⅠ);and 3.08%,4.47%,4.02%,4.31%,3.76%,4.22%,2.93%,5.25%,6.39%,and 4.35%(LevelⅡ) respectively.When triglycerides( TG) level was at 21 mmol/L, the interference rate was below 10%.When bilirubin level was at 120 μmol/L, the interference rate of ALT,AST and CREA was -33.33%,-22.99%,20.00%(LevelⅠ), and -22.13%,-14.55%,and 8.70%(LevelⅡ),respectively.When its level was at 240 μmol/L, the interference rate of UA was -16.67%and -24.69%, respectively at two levels;if hemoglobin( Hb) was at 170 mg/dl, the interference rate of TBIL and LDH was 20.00%,and 99.26%(LevelⅠ),and 15.38%,and 40.79%(LevelⅡ),respectively;if it was at 340 mg/dl, the interference rate of ALT and AST was 9.84% and 13.79%(LevelⅠ), and 12.30%,and 12.27%(LevelⅡ),respectively;if it was at 510 mg/dl, the interference rate of CREA,UA and Ck in LevelⅠwas 26.67%, 16.67%,and 11.74%.The R2 of linear regression between field POCT system( A) and AU2700 automatic biochemical analyzer were 0.961,0.995,0.989,0.995,0.990,0.989,0.989,0.963,0.978,and 0.993, respectively.The POCT system could not work at 35℃ or higher temperature, and there was no difference in the results of detection between temperatures of 10-30℃or RH of 70%-90% and normal temperature and humidity(20℃,RH 50%) (P>0.05). However, the result of ALT and CK at high temperature and humidity was significantly higher than at normal temperature and humidity(P<0.001,and P=0.011, respectively).Conclusion The biochemical module of field POCT system(A) has a good correlation with the common large biochemical analyzer, and its precision meets the requirement of laboratory detection, but jaundice and hemolytsis can interfere in several tests to varying degrees.The POCT system can basically ensure accurate detection under field conditions of temperature and humidity, but should not work under extreme environments.

Objective To investigate the prevalence and characteristics of GJB2 mutations in Uygur,Hui, Kazak and Kirgiz ethnic patients with non-syndromic hearing loss(NSHL)from the Xinjiang Uygur Autonomous Region of China.Methods With the permission,we collected 565 patients with moderately severe to profound sen-sorineural hearing loss,including Uygur,Hui,Kazak and Kirgiz ethnic minorities from 14 cities of Xinjiang.Pe-ripheral blood samples were obtained to extract genomic DNA.The SNP classification technology was for common pathogenic GJB2 gene mutations.ResuIts The pathogenic allele frequency of GJB2 gene were 10.16%(87/856 ), 15.85%(13/82),10.16%(13/128),1.56%(1/64)in the NSHL patients of Uygur,Hui,Kazak and Kirgiz minori-ties,respectively.And these differences were statistically significant (χ2 =8.140,P=0.043).c.235delc was only found in the Uygur and Hui with the allele frequency of 5.14 %(44/856)and 13.41 %(11/82),respectively.And c.35delG was found in Uyhur,Hui,Kazak and Kirgiz with allele frequencies were 3.15% (27/856),1.21% (1/82),8.59%(11/128)and 1.56% (1/64),respectively.ConcIusion GJB2 gene mutations had a higher incidence in Xinjiang NSHL patients,GJB2 gene mutation spectrum had differences in Uygur,Hui,Kazak and Kirgiz,c. 235delC the hotspot mutation region in Uygur and Hui nationalities NSHL patients,while c.35delG is the hotspot mutation region in NSHL patients of Uygur,Kazak and Kirgiz ethnicities.

Objective To investigate the prevalence of GJB2 ,SLC26A4 and mitochondrial DNA 12S rRNA m .1555A>G(mtDNA 1555A>G) mutations in Hui ethic group patients with nonsyndromic hearing loss (NSHL) from Northwest China .Methods A total of 420 peripheral blood samples were collected from unrelated Hui ethic group probands with NSHL in Northwest China .Amplified the target gene by polymerase chain reaction (PCR) af-ter extracting genomic DNA from whole blood .The mtDNA 1555A>G mutation was detected by PCR -Alw26I di-gestion ,then direct sequencing was used to the positive samples of mtDNA 1555A> G ,the coding region of GJB2 gene ,exon 8 and 19 of SLC26A4 gene .Results There were 11(2 .62% ) cases caused by mtDNA 1555A>G homo-zygous mutation in 420 patients with NSHL .There were 41(9 .76% ) cases including homozygote and compound het-erozygote ,caused by GJB2 gene mutation ,which was the most frequent deafness -related gene .The allel frequency of c .235delC accounted for 6 .90% ,as well as the most frequent(51 .33% ) mutational pattern in GJB2 gene .There were 20 patients(4 .76% ) were found carring two allel mutations in SLC26A4 gene .The allel frequency of c .919 -2A>G was 5 .0% ,accounting for a total of 68 .85% in all base alterations of SLC26A4 gene ,which was the major mutant form of SLC26A4 gene .Conclusion GJB2 gene is the most common deafness -gene in Hui ethnic group pa-tients with NSHL from Northwest China ,while c .235delC is the main mutant form ,and c .919-2A>G is the hot-spot mutation of SLC26A4 gene .Through this study we can provide the molecular epidemiology basis for Hui ethnic group patients with NSHL from Northwest China in genetic diagnosis ,genetic counseling and therapy by associated testing of three frequent hearing loss genes .

OBJECTIVE To investigate the incidence of the mitochondrial DNA 12SrRNA A1555G and connexin 26 gene (GJB2) in Chinese northwest population with nonsyndromic sensorineural hearing loss,and to explore the relationship between mitochondrial DNA A1555G and mutation of GJB2 gene. METHODS Blood samples were obtained from 221 patients with nonsyndromic sensorineural hearing loss in Northwest of China; Genomic DNA was extracted from the isolated leukocytes ; Screening the mitochondrial A1555G mutation by PCR-Alw26l digestion and sequence analysis, PCR and direct sequencing were used to analyze the coding region of GJB2 gene. RESULTS The homoplasmic A1555G mutation was found in 21 individuals of 221 patients,17 of these 21 patients had been treated with aminoglycosides. Eleven different variants of GJB2 were found in all patients ,the disease-causing mutations of GJB2 were 44 individuals in these patients(44/221), The mutation 235delC is found in 54.54 % of all disease-causing mutations ; Among 21 patients with the A1555G mutation, 11 cases were found polymorphic change in GJB2 gene ,only 1 case had V37I heterozygous mutations ,other 9 cases were not found any nucleotide changes of GJB2 gene. CONCLUSION The mtDNA 12SrRNA A1555G mutation has a high incidence in Chinese northwest population with non-syndromic sensorineural hearing loss.The 235delC mutation in the GJB2 gene is most frequent mutations responsible for non-syndromic hearing impairment in this region .It is unlikely that the GJB2 gene is a major modulatory factor for hearing loss due to the A1555G mutation in Chinese population.

OBJECTIVE： To establish a method for simultaneous determination of matrine， oxymatrine， gallic acid， peoniflorin， costunolide and dehydrocostus lactone in Libiling tablets. METHODS： RP-HPLC method was adopted. The determination was performed on Agilent ZORBAX SB-C18 column with mobile phase consisted of methanol-0.1％ phosphoric acid （gradient elution） at the flow rate of 1.0 mL/min. The detection wavelengths were 210 nm （matrine， oxymatrine） and 225 nm （gallic acid， peoniflorin， costunolide， dehydrocostus lactone）. The column temperature was set at 30 ℃， and sample size was 5 μL. RESULTS： The linear ranges of matrine， oxymatrine， gallic acid， peoniflorin， costunolide， dehydrocostus lactone were 0.053-5.28 mg/mL（r＝0.999 8）， 0.125-12.54 mg/mL（r＝0.999 9）， 0.013-1.33 mg/mL（r＝0.999 8）， 0.169-16.94   mg/mL（r＝0.999 9）， 0.048-4.77 mg/mL（r＝0.999 8）， 0.072-7.16 mg/mL （r＝0.999 9）. The limits of quantitation were 4.08×10－4， 4.48×10－4， 3.12×10－4， 2.10×10－4， 1.36×10－4， 1.84×10－4 mg/mL， respectively. The limits of detection were 1.24×10－4， 1.50×10－4， 1.02×10－4， 6.20×10－5， 4.20×10－5， 6.40×10－5 mg/mL， respectively. RSDs of precision， stability and reproducibility tests were all lower than 2％ （n＝6）. The recoveries were 98.03％-101.43％ （RSD＝1.25％， n＝6）， 97.73％-102.26％ （RSD＝1.96％， n＝6）， 97.18％-101.41％ （RSD＝1.98％，n＝6）， 97.45％-102.11％ （RSD＝1.88％，n＝6）， 96.85％-101.07％ （RSD＝1.75％， n＝6）， 97.12％-102.64％ （RSD＝1.82％，n＝6）， respectively. CONCLUSIONS： Established method is simple， stable and rapid， and can be used for simultaneous determination of 6 components in Libiling tablets.

Objective To assess the ability of simultaneous amplification and testing ( SAT ) in bacteria detection , bronchoalveolar lavage fluid from children was collected and detected by SAT , combined with in vitro culture experiment , providing theoretical support for the application of SAT in the diagnosis and treatment of mycoplasma pneumonia ( MP ) .Methods A total of 572 bronchoalveolar lavage fluid from children with community acquired pneumonia during October 2015 and December 2017 in Tianjin Children′s Hospital were collected and detected by Mycoplasma pneumonia ( MP ) nucleic acid quantitative assay and SAT technology.Among them, 161 bronchoalveolar lavage fluid were also detected using in vitro culture and the positive ones for MP were analyzed by nucleic acid quantification and SAT after exposing to high concentration of antibiotic .Results The positive rates of MP by nucleic acid quantitative assay and SAT technology in 572 samples were 74.7％ (427/572) and 71.9％ (411/572), respectively.These two detection methods have high consistency (χ2 =1.142,P=0.285).According to the test results of SAT , the positive rates of male and female were 72.7％(224/308) and 70.8％(187/264), respectively.There was no significant difference of positive rate between different sex (χ2 =0.252, P=0.616).The positive rate of MP in 4-14 years old children (78.1％, 317/416) was higher than that in infants (≤3 years) (56.6％, 94/166) (χ2 =26.811, P=0.000).After adding azithromycin (5 MIC) to MP positive medium for 5 days, the result of nucleic acid quantification was positive but SAT was negative .Conclusions SAT technology is a rapid, sensitive and specific method for detection of MP .In addition, SAT technology could identify the "dead" and"live" bacteria and could evaluate the effect of clinical treatment effectively .

Objective:To explore the clinical manifestations, diagnostic characteristics, treatment strategies and outcomes of patients with brucellaperi prosthetic joint infection (PJI).Methods:The medical records of 6 patients with brucella PJI in the First Medical Center of Chinese PLA General Hospital and the Third Hospital of Hebei Medical University from January 2010 to December 2018 were retrospectively analyzed, including 5 males and 1 female, aged 61.5±11.5 years (range 45-79 years) with body mass index 23.0±2.8 kg/m 2 (range 18.4-26.1 kg/m 2). Five cases lived in the countryside, 1 in the city. Four cases were farmers, while two cases were herder and unemployed. One case had contact history in the epidemic area, and 1 case had been in the slaughter industry. Three cases were with knee PJI, of which 1 patient underwent total knee arthroplasty due to knee joint villous nodular synovitis and 2 patients due to knee osteoarthritis. Three patients had hip PJI of which 1 patient underwent total hip arthroplasty due to spondylitis and hip ankylosis and 2 cases due to femoral head necrosis. Three cases were with acute PJI, while other 3 cases were with chronic PJI. Three cases showed fever, while 5 cases had local wounds swelling. A total of 4 cases were complicated with sinus tracts. Five cases had laboratory examinations on the day of admission of which 3 cases had elevated blood C-reactive protein (CRP) and 5 cases with increased erythrocyte sedimentation rate (ESR). Five cases were with increased blood interleukin-6 (IL-6), 2 cases with increased blood alanine transaminase (alanine transaminase, ALT). All cases had varying degrees of restricted movement of the affected joints. The normal range of motion of the hip joint was from 10° to 130°. The average range of motion of 3 patients with hip joint involvement was from 0° to 75°. The normal range of motion of the knee joint was 10°-135°. Three patients with knee joint involvement had an average range from -8° to 67°. One case showed loosening of the right hip prosthesis with infection and 1 case showed local soft tissue swelling. Other cases showed no obvious abnormalities in X-rays. Two patients who underwent frozen pathological examination during the operation had positive pathological neutrophilcounts. Four cases had positive Brucella culture in joint tissues or synovial fluid (1 case with mixed infection) and 2 cases had blood Brucella antibody positive. Results:Among the 3 cases of acute PJI, two of them were treated with debridement, antibiotics, irrigation and retention. One case was treated with two-stage revision. Among the 3 cases of chronic PJI, one was treated with two-stage revision and 2 were treated with one-stage revision. Brucella-specific antibiotics such as rifampicin and doxycycline were used in the antibiotic treatment with the course of antibiotics 3 to 12 weeks. At the time of discharge, the CRP and ESR dropped to the normal range (CRP 0-0.8 mg/dl, ESR 0-20 mm/1 h) in all cases except for the second case. Interleukin 6 was not tested in the sixth case before discharge. In the remaining 5 patients, the blood interleukin 6 fell to the normal range (0-5.9 pg/ml) in 2 cases, and the blood ALT was in the normal range (0-40 U/L) in 4 cases. The body temperature of the second case was 37.3 ℃, while the other cases dropped below 37.3 ℃. In the second case, fever occurred intermittently after surgery. Thus, the incisionwas reddened and swollen and exuded 2 months after the operation. The patient recovered after intravenous infusion of levofloxacin. Until the last follow-up, all patients had no recurrence of infection. Imaging examination comfirmed that the prosthesis was in good position.Conclusion:For patients with Brucella PJI, Brucella culture positive and Brucella antibody positive have specific diagnostic significance. Different surgical strategies will be adopt based on the patient's symptoms and the duration of infection. Surgery combined with Brucella specific antibiotic treatment can usually achieve satisfied therapeutic outcomes.