Purpose To investigate the clinicopathological changes of the diffuse-type giant cell tumor of the bone and joint. Methods 42 cases of the diffuse-type giant cell tumor of the bone and joint were studied and the follow-up data were reviewed. Results The male patients were 19 and the female were 23, with the male to female ratio of 1 ∶ 1. 2. The age of the patients was 8~69 years (the average age was 37. 6). It was displayed that the patients presented local pain and swelling (34 cases), including dysfunction (18 ca-ses) of the bone and joint. Clinically, the lesions located on the knee joint ( 71. 4%) in 30 cases, the hip and ankle in 9 cases (21. 4%), and the wrist elbow in 3 cases (7. 1%). 27 cases were examined by MRI. Among them, the diffuse-type giant cell tumor was diagnosed in 9 cases (33. 3%). The effusive lesions of the joint presented in 5 cases, the non-specific synovial lesions and others in 3 cases. The obviously diffuse hyperplasia of synovial cells with nodular growth pattern was found. However, a high proliferative in-dex of the tumor cells and the rich-cell tumor were found. But there was no tumor necrosis. Histopathologically, the tumor cells of dif-fuse-type giant cell tumor contained marked brown pigments, multinucleated giant cells formation and a lot of lymphocytes proliferation or follicular reaction in 17 cases (40. 5%) with invasive growth and involvement of the joint and surrounding tissue. 6 cases recurred (20%) , including 2 cases with 2 times. Conclusions The diffuse type-giant cell tumors most commonly involve the knee, followed by the hip and ankle. Preoperative examination of MRI can be help for the diagnosis of the tumor. Histopathologically, diffuse-type gi-ant cell tumor with synovial cells rich-hyperplasia and the villous structures formation more likely recur. The main biological character-istics of diffuse-type giant cell tumor are invasive growth pattern, usually into the soft tissue around the joints.

Objective To analyze the genotype-phenotype correlations of Angelman syndrome ( AS ) , and to discuss the advantage of applying array-based single nucleotide polymorphisms comparative genomic hybridization ( SNP aCGH) in diagnosis of AS. Methods Examination of electroencephalogram( EEG) and intelligence quotient( IQ) evaluation were done for 11 cases diagnosed as AS clinically. Gesell scares were chosen as the evaluation criterion of IQ. The screening techniques was methylation polymerase chain reaction( MS-PCR) ,then SNP aCGH was used to make genetic diagnosis. Results (1)Eleven cases of AS were confirmed:1 case had UPD(uniparental disomy),10 cases were type of deletion, from which 6 cases were deletion (Ⅱ) , 4 cases were deletion (Ⅰ) . ( 2 ) The copy number variations were detected in the region of 15q11-q13,which contained genes like MKRN3,MAGEL2,NDN,SNRPN, SNURF,GABRB3,GABRA5,GABRG3,UBE3A,OCA2,ATP10A. To search online Mendelian inheritance in man,genes above were correlated with AS manifestation. (3)All cases of deletion were 3-5 standard deviation(SD) in weight and height to normal children at the same age and with the same sex,while UPD was below 1. 5 SD. Gesell scares showed that the deletion(Ⅰ) was the most serious in mental retardation,deletion(Ⅱ) was moderate,and the UPD was mild. Eight cases were hypopigmentation,and one was the UPD. EEG revealed that 1 case of deletion(Ⅰ) and the UPD were spike occasionally,another one deletion(Ⅰ) was limit EEG. The rest cases displayed slow and spike waves paroxysmal-ly,with amplitude of medium or high,2. 5-3. 0 Hz. Conclusions Not only can SNP aCGH make a diagnosis of AS but discriminate the types of genetic pathology. Since different type contributes to a diverse of clinical features and the rate of recurrence is also different,it is significant for family genetic consultation. Moreover,the technology is advantageous for the study on the pathogenesis and gene function.

Objective To evaluate the clinical value of MSCT in the diagnosis of unexplained aseites.Methods 113 patients with unexplained ascites were retrospectively reviewed by CT、clinical data and continous observation.Results Large ascites in 50 cases(44.3%),moderate amount aseites in 10 cases(8.8%),small ascites in 53 cases(46.9%);Parietal peritoneum changed in 51 cases(45.1%);Mesentery changed in 44 cases(38.9%);Grerter omentum changed in 20 eases(17.7%);Enlargement of lymph nodes in 67 cases(59.3%).Conclusion Malignant tumor was the most common cause of unexplained ascites.MSCT could help in identifying tumors and the tumor lesion,forecast malignant ascites,and had great value in etiology and diagnosis of ascites.

Objective By using array-based single nucleotide polymorphisms comparative genomic hybridization (SNP-aCGH) to detect and fine mapping copy number variations (CNVs) in children with unexplained mental retardation/brain development delay(MR/BD),then the CNVs were analyzed to determine diagnosis and offer genetic counseling,finally to discuss the application of SNP-aCGH in genetic diagnosis of MR/BD with unknown causes.Methods Ninety-two children with unexplained MR/BD were recruited.SNP-aCGH was used to get CNVs from the whole genome-wide,and the correlation of CNVs and phenotype was analyzed to definit disease genes or pathogenic fragment.Statistics was performed to analyze the common phenotype between positive cases (case with CNVs) and negative cases.Results (1) The CNVs were detected in 10 cases with a detection rate of 10.86％,from which 8 cases showed subtelomeric aberration,5 cases without subtelomeric aberration,and the rate was 8.70％,5.40％,respectively.The CNVs related to MR/BD involved 10 different subtelomeric regions (9p,21q,3p,2p,15q,4p,12p,22q,16p,17p),and 7 different regions without subtelomeric (1p,4q,2p,14q,15q,12q,22q).The deletions involved 11 zones (size:1.05-8.80 Mb),and duplications referred to 8 zones (size:1.33-31.25 Mb).(2) One case was diagnosed as 9p duplication syndrome,for candidate genes:DOCK8,VLDLR.A case was detected with a gene fracture (CRBN).One case was diagnosed as Coffin-Sirrs syndrome combined with a deletion of 15q26.3-qter,for candidate genes:SOX11 and LINS1,respectively.One case referred to 12p13.3 deletion syndrome,for candidate genes:ELKS,ERC1.One case referred to 22q13.2-qter deletion,for candidate genes:SHANK3.Two cases were diagnosed as ATR-16 syndrome with 17p13.3 deletion syndrome,their candidate genes:HBA1,HBA2,SOX8 for the former,YWHAE,LIS1 for the latter.(3)There were statistically significant differences in comparison of positive cases to the negative ones for growth delay,internal organs deformity,low birth weight infant(LBW) and premature infant (all P ＜0.05).Conclusions (1) Besides MR/BD in different degrees in all the positive cases,they also showed growth delay,a portion of them with internal organs deformity,low birth weight infant and premature infant.(2) Subtelomeric aberrations are related to MR/BD,while the submicroscopic rearrangement in regions without subtelomeric is suspiciously pathogenic,and need to be further studied.(3) SNP-aCGH can fine mapping the region of CNVs by high resolution from the whole genome-wide,which does contribute to limit the zones for finding pathogenic region and candidate genes,as well as to offer a technology platform for investigating about the correlation of phenotype and genes or CNVs.

This study was aimed to show the extraction research of cpDNA in Gentiana straminea Maxim. and G. crassicaulis Duthie ex Burk., which will increase the knowledge about the chloroplast genome sequence characteris-tics, understand its genetic diversity and improve the efficiency of breeding schemes. G. straminea Maxim. and G. crassicaulis Duthie ex Burk. were taken as study objects. The improved sucrose-gradient centrifugation and purifica-tion methods were used to obtain the cpDNA, measure the concentration, detect the OD value, and amplify the ITS2 sequence to verify the nucleus pollution. The results showed that the high quality and purity cpDNA (0.1 - 0.4 μg/10 g) was demonstrated without other pollution after ITS2 sequence amplification, which met to the subsequent effi-cient sequencing of chloroplast genomes. The purity and mass have an important influence on the accuracy and cred-ibility of the cp genome sequencing. It was concluded that this study improved the sucrose-gradient centrifugation and purification with great effect of the purity and mass of cpDNA, and guaranteed the obtaining of complete cpDNA of Gentiana.

Objective To explore the function of the regional medical image network consultation system in propelling the quality control of regional medical image.Methods Based on the regional medical image network con-sultation system,the unified standard of quality control was implemented to reach the integrated management of the imaging quality control in region.The imaging specialists checked the quality of image and report in real time.In addi-tion,the specialists and inspectors monthly examined the quality of image and report.Subsequently,the unqualified causes were analyzed and the improvement measures were used.Finally,the quality of image and report were continu-ously improved.Results After the homogeneity management was applied for one year,the rates of remaking photos and returning the report were significantly decreased from 10% to 2%,and 12% to 4% respectively.Additionally,the rates of good image and report were significantly increased from 83% to 98%,and 89% to 100% respectively.The objective of good rate ≥90% was excellently achieved.Conclusion Based on the regional medical image network consultation system,the management in quality control of the networking hospitals has been uniform,and the technique of examination and the report format have been consistent.The standardability and accuracy of image examination have been realized.

Objective To establish a CVS-11 pseudovirus particles ( pp)-based assay for detec-tion of neutralizing antibody against rabies virus. Methods An improved rapid fluorescence focus inhibition test ( RFFIT) for detection of neutralizing antibody against rabies virus ( RVNA) was established based on the CVS-11 pseudovirus expressing a luciferase reporter gene. Forty-six human serum samples were analyzed with the improved RFFIT and the results were compared with those by using standard RFFIT. Moreover, the improved RFFIT was used to detect the titers of RVNA in 91 serum samples collected from pet dogs and pet-breeders in Beijing. Results The coincidence rate of the improved RFFIT and the standard RFFIT was 100% regarding to the analysis of 46 human serum samples and 5 negative reference serum samples. Moreo-ver, the RVNA titers of all serum samples obtained with CVS-11 pseudovirus-based assay showed a signifi-cant high correlation with those obtained with standard RFFIT (n=46, r=0. 94, P<0. 000 1). All of the 91 serum samples collected from pet dogs and pet-breeders in Beijing were positive for RVNA as indicated by the improved RFFIT with a mean titer of 33. 01 IU/ml. Conclusion We established an improved RFFIT based on the CVS-11 pp expressing luciferase reporter gene, which might be used as a reliable alternative RFFIT for measuring RVNA titer. Analysis of the 91 serum samples collected in Beijing with the improved RFFIT showed that all samples were positive for RVNA.

Objective To discuss the radiation quality control in county based on regional medical imaging platform. Methods Based on regional medical imaging platform with the combination of PACS technology and telecommunication broadband network, we established the database, unified the radiological image quality standards and the regional medical imaging platform templates of the radiological examination report, built the evaluation standards, objectives, methods and processes of radiological quality, and observed the good rate of image quality and diagnostic report quality, in order to build a county-based radiation quality control system based on regional medical imaging platform. Results The good rate of the image quality and the diagnostic report quality increased and reached the target of examination(≥ 90％). Conclusion Through the regional medical imaging platform, changing the quality control mode of traditional radiation can improve the quality of radiation examination in the region and increase management efficiency and time efficiency.

Objective To investigate the effect of ultrasound-guided transverse abdominal plane block(TAPB)on pain inhibition and stress response in patients undergoing laparoscopic sleeve gastrectomy(LSG).Methods 98 cases of laparoscopic sleeve Gastrectomy patients admitted from March 2021 to October 2022 were selected as the research object,and they were randomly divided into control group(49 cases)and observation group(49 cases)by double blind method.The control group received general anesthesia,and the observation group received TAPB+general anesthesia.The postoperative pain,analgesic dosage,stress level,hemodynamics and adverse reactions of the two groups were compared.Results The dosage of sufentanil and propofol in the observation group,as well as the effective press frequency of the intravenous analgesia pump 48 hours after surgery[(232.38±29.62)μg,(328.40± 40.68)mg and(5.60±1.25)],were lower than those in the control group[(294.07±35.88)μg,(402.25±46.74)mg and(9.75±2.40)](P＜0.05).The visual analogue scale(VAS)scores for each time period of the observation group were(2.43±0.49),(2.29±0.46),(2.85±0.49),(2.41± 0.39),(2.12±0.41)and(1.82±0.32),respectivly.While,the control group were(2.95±0.46),(3.22±0.51),(3.92±0.47),(3.13±0.65),(2.83±0.57)and(2.05±0.53),respectivly.The difference between the two groups was statistically significant(P＜0.05).At the time of tracheal intubation(T2),at the end of operation(T3),and at the time of leaving the anesthesia recovery room(T4),the fluctuation range of mean arterial pressure[86.00(79.00,94.00)mmHg,87.00(80.00,90.00)mmHg and 89.00(84.00,95.00)mmHg vs 82.00(75.00,90.00)mmHg,85.00(77.00,93.00)mmHg and 87.00(80.00,97.00)mmHg],heart rate[78.00(67.00,83.00)times/min,80.00(74.00,86.00)times/min and 81.00(76.00,90.00)times/min vs 78.00(67.00,83.00)times/min,80.00(74.00,86.00)times/min and 81.00(76.00,90.00)times/min]and blood oxygen saturation[97.38(97.00,97.75)％,98.69(98.30,99.05)％and 99.16(98.80,99.35)％vs 96.54(96.15,96.80)％,98.02(97.65,98.45)％and 98.73(98.43,99.15)％]in the observation group was significantly smaller than that of the control group(P＜0.05).In the observation group,cortisol levels were(192.47 ±40.25)ng/ml,(151.34±39.62)ng/ml and(118.69±30.57)ng/ml at 6 hours,24 hours and 48 hours,respectively,while in the control group were(206.24±45.34)ng/ml,(178.24±37.58)ng/ml and(143.63±32.34)ng/ml,respectively;C-reactive protein(CRP)in the observation group were(25.24±6.29)mg/L,(20.93±5.83)mg/L and(13.61±4.29)mg/L,respectively,while in the control group were(28.13±6.92)mg/L,(23.25±5.21)mg/L and(16.38±4.35)mg/L,respectively;interleukin-6(IL-6)in the observation group were(44.87±7.95)pg/L,(38.34±6.13)pg/L and(34.27±5.32)pg/L,respectively,while in the control group were(56.43±7.23)pg/L、(42.24±6.58)pg/L、(37.66±6.03)pg/L,respectively.The difference between the two groups was statistically significant(P＜0.05).The total incidence of adverse reactions of the observation group(4.08％)was lower in than that of the control group(20.41％)(P＜0.05).Conclusion Ultrasound-guided TAPB for LSG patients has a good effect on postoperative pain suppression,can reduce the stress response of the body after surgery,and is safe.

OBJECTIVETo report a true hermaphroditism due to a teragametic chimerism and to discuss the pathogenesis of tetragametic chimerism.

METHODSChromosomal analysis and fluorescence in situ hybridization(FISH) were carried out on the lymphocytes from the blood and on the fibroblasts from the cultured skin and on fibroblasts from two different kinds of gonadal tissues of the patient with ambiguous genitalia respectively. Blood groups, human leukocyte antigen (HLA) haplotyping and 77 short tandem repeat (STR) microsatellite markers were tested. The two kinds of tissues in the gonad were detected by histopathological examination. Blood groups, HLA haplotying and 77 STR microsatellite markers parents of the patient's were also analyzed.

RESULTSEither 46,XX or 46,XY karyotype was found in the lymphocytes of the blood and in the fibroblasts of the cultured skin and of the two different kinds of gonadal tissues. Two X chromosome-specific signals or one X and one Y signal were detected in each interphase nucleus by FISH from the lymphocytes of the blood and the fibroblasts of three different tissue cultures. The karyotype of the 46,XY cell line predominated in all cultures except the cultured-fibroblasts from yellow gonadal tissues. STR marker analysis, ABO grouping and HLA study from the patient were identified a single haplotype in the patient from the mother and two different haplotypes from the father. Two kinds of tissues in the gonad were observed by histopathological examination. The yellow tissue was ovary and the white one was testis.

CONCLUSIONSHistopathological examination and chromosomal analysis combined with FISH are very useful methods for the diagnosis of true hermaphroditism. Blood typing, HLA and short tandem repeat microsatellite markers afford strong evidence for confirming tetragametic chimerism. The mechanism of tetragametic chimerism in true hermaphroditism can be explained by a parthenogenetic division of a haploid nucleu into two identical gametes, followed by fertilization with both X and Y spermatozoa and then developed into an organism.

ABO Blood-Group System ; Chimera ; Disorders of Sex Development ; blood ; genetics ; pathology ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Sex Chromosomes