Objective:To identify the pathogenic characteristics of a suspected gonadal mosaicism Becker muscular dystrophy (BMD) family, and provide provide basis for pregnancy selection of similar families.Methods:A BMD family admitted to Hunan Jiahui Genetics Hospital from June 2012 to September 2019 was systematically reviewed. The medical history and family history of the proband were checked, and multiplex ligation-dependent probe amplification was used to detect the deletion/duplication of 79 exons of the Duchenne muscular dystrophy (DMD) gene in the proband, fetuses, and parents. Moreover, potential variants were verified by combining PCR amplification, short tandom repeat polymorphic linkage analysis, and real-time fluorescence quantitative PCR. High-quality embryos are screened for transplantation after preimplantation genetic testing for monogenic (PGT-M). And amniotic fluid was collected in the second trimester for prenatal diagnostic verification.Results:According to the phenotype analysis of the proband, the initial clinical diagnosis was BMD, and the exon 45-50 deletion in DMD gene was detected. The mutation was not detected in the mother′s peripheral blood, but when she was pregnant again, the prenatal diagnosis showed that the fetus had the same deletion mutation as the proband. Neither of two vitro embryos tested by PGT-M has the deletion mutation, then single embryo transfer was performed nor was pregnancy successful. After confirmation of prenatal diagnosis during pregnancy, a normal baby girl was born by full-term cesarean section.Conclusions:This BMD family was a family with two consecutive BMD homodeletion mutations, and the mutation of the DMD gene was not detected in the peripheral blood of the proband′s mother and two embryonic cells, suggesting that the mother may be a gonad chimeric carrier of this deletion mutation. The combined application of prenatal diagnosis and PGT-M provides a reference approach to effectively avoid the birth of similar children.

To explore the pharmacogenomic markers that affect the platinum-based chemotherapy response in non-small-cell lung carcinoma (NSCLC), we performed a two-cohort of genome-wide association studies (GWAS), including 34 for WES-based and 433 for microarray-based analyses, as well as two independent validation cohorts. After integrating the results of two studies, the genetic variations related to the platinum-based chemotherapy response were further determined by fine-mapping in 838 samples, and their potential functional impact were investigated by eQTL analysis and in vitro cell experiments. We found that a total of 68 variations were significant at P < 1 × 10^-3 in cohort 1 discovery stage, of which 3 SNPs were verified in 262 independent samples. A total of 541 SNPs were significant at P < 1 × 10^-4 in cohort 2 discovery stage, of which 8 SNPs were verified in 347 independent samples. Comparing the validated SNPs in two GWAS, ADCY1 gene was verified in both independent studies. The results of fine-mapping showed that the G allele carriers of ADCY1 rs2280496 and C allele carriers of rs189178649 were more likely to be resistant to platinum-based chemotherapy. In conclusion, our study found that rs2280496 and rs189178649 in ADCY1 gene were associated the sensitivity of platinum-based chemotherapy in NSCLC patients.

Objective:To summarize the patient profiles and therapeutic efficacies of ABO-incompatible living-related kidney transplantations at 19 domestic transplant centers and provide rationales for clinical application of ABOi-KT.Methods:Clinical cases of ABO-incompatible/compatible kidney transplantation (ABOi-KT/ABOc-KT) from December 2006 to December 2009 were collected. Then, statistical analyses were conducted from the aspects of tissue matching, perioperative managements, complications and survival rates of renal allograft or recipients.Results:Clinical data of 342 ABOi-KT and 779 ABOc-KT indicated that (1) no inter-group differences existed in age, body mass index (BMI), donor-recipient relationship or waiting time of pre-operative dialysis; (2) ABO blood type: blood type O recipients had the longest waiting list and transplantations from blood type A to blood type O accounted for the largest proportion; (3) HLA matching: no statistical significance existed in mismatch rate or positive rate of PRA I/II between two types of surgery; (4) CD20 should be properly used on the basis of different phrases; (5) hemorrhage was a common complication during an early postoperative period and microthrombosis appeared later; (6) no difference existed in postoperative incidence of complications or survival rate of renal allograft and recipients at 1/3/5/10 years between ABOi-KT and ABOc-KT. The acute rejection rate and serum creatinine levels of ABOi-KT recipients were comparable to those of ABOc-KT recipients within 1 year.Conclusions:ABOi-KT is both safe and effective so that it may be applied at all transplant centers as needed.

Objective: To investigate the automatic implicit attitude and explicit stigma of mental illness, and the intervention effectiveness on the stigma of mental illness in college students. Methods: Single category implicit association test(SC-IAT) and questionnaire survey were used to study the degree of implicit and explicit mental illness stigma among 30 college students of Peking University, and investigated the effect of two strategies, education and contact.Data were analyzed by SPSS 22.0 with t-test and variance analysis. Results: The D values of SC-IAT in the three dimensions of cognitive evaluation, emotional response and behavioral tendency of college students were 0.29±0.37, 0.24±0.43, and 0.10±0.43.There was a statistically significant difference between the cognitive evaluation dimension, the emotional response dimension and 0(t=4.069, P<0.01; t=2.925, P<0.01). There was no statistically significant difference between the implicit stigma and the 0 in the behavioral tendency dimension(t=1.423, P=0.167). In the explicit stigma, the mercy dimension score(1.94±0.61) was lower than the median, and the difference was statistically significant(t=-12.286, P<0.01), while the scores of anger dimension(4.62±0.44) and fear dimension (4.55±0.31) were higher than the median(t=13.243, 3.200, both P<0.01). There were no significant differences in the values of implicit and external stigma among pre-intervention, education intervention and after contact(P>0.05). The correct rates of questions "Which of the following situations do you think are considered mentally unhealthy? " and "Which of the following disorders are mental illnesses" (42±13)%, (54±13)%) increased after receiving educational intervention ((49±12)%, (64±13)%), the difference was statistically significant (F=3.682, P<0.05; F=3.576, P<0.05). Conclusion College students have implicit mental illness stigma, educational and contact intervention strategies can help improve college students' understanding of relevant knowledge, and cannot improve the level of implicit stigma of college students on mental illness.

Objective To design a novel electronic device for measuring the pressure in the cuff of the artificial airway; and to study the advantage of this device on continuous and intermittent cuff pressure monitoring. Methods ① a portable electronic device for cuff pressure measurement was invented, which could turn pressure signal into electrical signal through a pressure transducer. Meantime, it was possible to avoid pressure leak from the joint and the inside of the apparatus by modified Luer taper and sophisticated design. If the cuff pressure was out of the normal range, the apparatus could release a sound and light alarm. ② Six traditional mechanical manometers were used to determine the cuff pressure in 6 tracheal tubes. The cuff pressure was maintain at 30 cmH2O (1 cmH2O =0.098 kPa) by the manometer first, and repeated every 30 seconds for 4 times. ③ Study of continuous cuff pressure monitoring: We used a random number generator to randomize 6 tracheal tubes, 6 mechanical manometers and 6 our products by number 1-6, which has the same number of a group. Every group was further randomized into two balanced groups, one group used the mechanical manometer first, and the other used our product first. The baseline pressure was 30 cmH2O, measurement was performed every 4 hours for 6 times. Results When traditional mechanical manometer was used for cuff pressure monitoring, cuff pressure was decreased by an average of 2.9 cmH2O for each measurement (F = 728.2, P = 0.000). In study of continually monitoring, at each monitoring point, the pressure measured by electronic manometer was higher than the mechanical manometer. All the pressures measured by mechanical manometer were dropped below 20 cmH2O at 8th hour, and there was no pressure decrease below 20 cmH2O measured by electronic manometer in 24 hours by contrast. In study of intermittent monitoring, the same result was found. The pressure was dropped significantly with time when measured by mechanical manometer (F = 61.795, P = 0.000), the drops below 20 cmH2O began at 8th hour; but when measured by electronic manometer, all the value stayed unchanged around the baseline in 24 hours (F = 0.511, P = 0.796). Conclusions Compared with traditional mechanical manometer, cuff pressures monitored by our novel electronic manometer were steadier in both continuous and intermittent monitoring. The device is compact and convenient, and can provide a good solution for continuously monitor of the tracheal cuff pressure.

Objective To judge the effect by understanding the change of the blood related indexes before and after the applica-tion of lamivudine combined with silibinin treatment for treating E antigen positive chronic hepatitis B to provide the basis for the individualized therapy.Methods 226 cases of E antigen positive chronic hepatitis B were selected and divided into the mild group (55 cases),moderate group (94 cases)and severe group(77 cases)according to the degree of liver function injury.The 3 groups were given oral lamivudine 100 mg once daily and oral silybinin 70mg,3 times a day.The course of treatment was 6 months;the re-lated blood indexes before and after treatment were analyzed.Results After 6 months of treatment,the recovery rate of ALT,E an-tigen negative conversion rate and HBV-DNA negative conversion rate in the mild group and the moderate group were improved in different degrees,and those in the severe group were significantly increased(P <0.05).Conclusion Lamivudine combined with sili-binin treatment can inhibit the replication of HBV-DNA more effectively,promote the recovery rate of serum ALT significantly,im-prove the E antigen negative conversion rate,especially for the patients with severe liver function injury;which improve the curative effect in the treatment of chronic hepatitis B in some extent.

Long-term medical education program requires that the medical students should ac-quire both professional knowledge and scientific research ability. These students,with heavy task and course,have difficulty in performing the scientific research systematically. It is very important to develop the early scientific research training. Department of pathology in Central South University,took early sci-entific research activities in various forms,such as literature searching,reviews writing,research design-ing,experiment performing,lecture communicating and clinical practicing after combining the discipline characteristic and arranging the overall process. Satisfactory effects were achieved with efforts.

The training of teaching ability is an important context of master course.Pathology Department of Xiang Ya School of Medicine take experimental teaching practice as the important way to improve their pathological experimental teaching skill.In this paper we introduced our experience.

Objective: To study the effects and safety of Shixinyatong buccal tablets in the treatment of gastropyretic toothache (perico-ronitis). Methods: Randemized, double-blinded, double-imitated, parallel-controlled and multi-center clinical study was employed. 120 cases of gastropyretic toothache (pericoronitis) was enrolled in the experimental group( SBT group) and another 120 in control group(CBD group). Pericoronal pocket rinsing was performed for each case at the first visit, then the patients in SBT group were treated by Shixin buccal tablets(SBT) , 0. 6 g×2, 4/d and oral adiministration of the vehicle of cow-bezoare detoxicating tablets,0.3 g×3, 3/ d. The patients in CBD group were treated by oral adiministration of cow-bezoare detoxicating tablets ( SBD), 0. 3 g×3, 3/d and the vehicle of SBT, 0.6 g ×2, 4/d respectively. Pain, gingiva contagious tumefaction, pyorrhea of periocoronal pocket and limitation of mouth opening were scored by 0, 2, 4 and 6 as the major physical signs and symptoms(MAS); periocoronal flap and pocket, facial swelling, hot and foul breath, costipation, lymphadenectasis, thirsty and desire of cold drinks, fever by 0, 1,2 and 3 as the minor (MIS). Treatment was continued for 5 days and data were statistically analysed with SAS6. 12 software. Significant effectiveness was i-dentified by the decrease of total score of all the physical signs and symptoms(TS) ≥70% .effectiveness 30%～69% and ineffectiveness ≤29%. Routine examinations of blood, urine and stool, function of liver and kidney and electrocardiogram were conducted before and after treatment. Adverse events(AE) were observed. Results: 3 cases divorced from SBT group and 2 from CBD group. The demographic data and all the scores before treatment were not statistically different between groups (P>0.05). 3 and 5 days after treatment theTS, TSMA and TSMI were decreased(P= 0.000) in both groups, in SBT group decreased more than in CBD(P<0.001). Significant effectiveness ratio of SBT group was higher than that of CBD (P=0. 000). 5 days after treatment TS of MASs and the scores of each MAS in SBT group decreased more than in CBD( P<0.05). Vital signs were in normal range and not statisticaly different between groups(P>0.05). The clinical lab examinations showed no abnormal changes. Drug-related AE were observed in 3 cases, 1 with moderate AE in SBT group recovered after drug withdrawal, 2 with mild AE in CBD group recovered without aditional treatment. Conclusion; Shixinyatong buccal tablet is more effective in the treatment of gastropyretic toothache (pericoronitis) than cow-bezoare detoxicating tablets and with similar safety.

OBJECTIVETo identify the small supernumerary marker chromosomes (sSMC) and guide the genetic counseling and medical treatment in two patients with Turner syndrome.

METHODSHigh resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed to the two patients.

RESULTSThe karyotypes of the two patients were 45, X [29]/46,X, +mar[31] and 45,X[71]/46,X, +mar[29] respectively. SRY test indicated SRY-positive for patient 1, whose sSMC was originated from chromosome Y. The karyotype was confirmed as 45,X[29]/46,X,idic(Y)(q10)[31]. ish idic(Y)(q10)(RP11-115H13x2) (SRY+) by FISH. While in patient 2, the sSMC was originated from chromosome X, whose karyotype was determined as 45, X[71]/46,X, r(X)(p11.23q21)[29]. ish r(X) (p11.23q21)(AL591394.11xAC092268.3).

CONCLUSIONUsing cytogenetic and molecular cytogenetic analyses, we have identified the sSMCs in two patients with Turner syndrome, which was helpful to the clinical diagnosis and treatment.

Adolescent ; Child ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Female ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Turner Syndrome ; genetics