Next generation sequencing (NGS) technology is playing an increasingly important role in the diagnosis of genetic diseases. Whole exome sequencing (WES), which targets the coding regions of the genome, has been widely used in the diagnosis of genetic diseases for its low cost and high efficiency. However, compared to conventional methods, the Next Generation Sequencing (NGS) process is intricate, and there is variability in the expertise of data analysts and variant interpreters, which may lead to inconsistencies in the outcomes. To ensure the quality of testing and enhance the diagnostic rate of diseases, this consensus has provided recommendations regarding the laboratory setup, operational procedures, data analysis, result interpretation, and quality control for WES, with an aim to standardize its application in the detection of genetic disorders.

Next generation sequencing (NGS) technology is playing an increasingly important role in the diagnosis of genetic diseases. Whole exome sequencing (WES), which targets the coding regions of the genome, has been widely used in the diagnosis of genetic diseases for its low cost and high efficiency. However, compared to conventional methods, the Next Generation Sequencing (NGS) process is intricate, and there is variability in the expertise of data analysts and variant interpreters, which may lead to inconsistencies in the outcomes. To ensure the quality of testing and enhance the diagnostic rate of diseases, this consensus has provided recommendations regarding the laboratory setup, operational procedures, data analysis, result interpretation, and quality control for WES, with an aim to standardize its application in the detection of genetic disorders.

Objective To investigate the status of hepatitis B virus (HBV) infection in children in Wuhan, and to analyze the expression pattern and distribution of serum markers. Methods Five serum markers of HbsA, HbsAb, HbeAg, HbeAb and HBcAb were detected by electrochemiluminescence immunoassay in 67 027 children aged 0-18 years including inpatients, outpatients, and physical examinees in Wuhan Children's Hospital. SPSS24.0 statistical software was used to analyze the results by age and gender. Results The ^“all negative^” detection rate of all 67,027 children was 18.98%. There was a significant difference in the positive rate of HBcAb between male and female. The positive rate of HBcAb was higher in 0~28 days and 1~12 months group and decreased significantly after 1 year old. The positive rate of HBcAb was 5.02% in 1-14 years old but increased slightly in 15-18 years old. Among HBsAb positive children, the positive rate of HBsAb reached the peak of 95.65% in 1~2 years old group and the lowest of 68.90% in 6~14 years old group, and gradually decreased before 15 years old. Among the children with HBsAb concentration ≥100 IU/L, the proportion of 1~2 years old group was the highest (76.99%), and the proportion of 6~14 years old group was the lowest (40.99%). A total of 20 HBsAb serum marker expression patterns were detected, and the detection rates of ^“single HBsAb+^”, ^“all negative^”, ^“HBsAb+/HBcAb+^”, and ^“HBsAb+/HBeAb+/HBcAb+^” were 71.40%, 18.98%, 4.80% and 4.20%, respectively. Among them, 11 kinds of uncommon expression patterns were detected, and 9 kinds of uncommon expression patterns were detected in neonates, with a detection rate of 1.21%, which was higher than that in other age groups. Among all serological patterns, only the detection rate of ^“single HBcAb+^” showed a statistical difference between male and female. Conclusion The HBV infection rate in all ages of 0~18 years old children in Wuhan is low. ^“Single HBsAb+^” is the main serological pattern, and the concentration distribution of HBsAb is mostly in the range of 100-999 IU /L. There is a high ^“all negative^” detection rate. School-age children should be inoculated with hepatitis B vaccine, which may be beneficial to reduce the risk of infection.

Objective:To study the Epstein-Barr virus (EBV) activity and its clinical characteristics in patients with hemorrhagic fever with renal syndrome (HFRS). Methods:From January 2016 to August 2017, patients with HFRS who were hospitalized in the First Affiliated Hospital of Harbin Medical University were routinely tested by EBV serology, and were divided into two groups according to their presence or absence of EBV infection, namely EBV active group and non-EBV active group. The clinical data between the two groups were compared and analyzed by SPSS 18.0.Results:A total of 188 HFRS patients were enrolled, including 73 cases in EBV active group and 115 cases in non-EBV active group. The EBV active rate of HFRS patients was 38.83% (73/188). The incidences of lumbago [57.53% (42/73) vs 42.61% (49/115)], abdominal pain [42.47% (31/73) vs 20.00% (23/115)], skin and mucosa congestion [57.53% (42/73) vs 39.13% (45/115)], and conjunctiva edema [50.68% (37/73) vs 28.70% (33/115)] in EBV active group were significantly higher than those in non-EBV active group (χ 2 = 3.983, 11.008, 6.083, 9.239, P < 0.05). There were 10, 7 and 43 patients with acute kidney injury (AKI) stage 1, 2 and 3 in EBV active group and 5, 13 and 53 patients in non-EBV active group. Degree of AKI in EBV active group was higher than that in non-EBV active group, and the difference was statistically significant (χ 2 = 12.615, P < 0.05). In EBV active group, the proportion of patients whose renal function recovery over 15 days [23.29% (17/73)] and white blood cell count [11.26 (3.39 ~ 54.23) × 10 9/L] were significantly higher than those in non-EBV active group [6.96% (8/115), 10.03 (2.91 ~ 66.99) × 10 9/L], and the differences were statistically significant (χ 2 = 10.330, Z = - 2.003, P < 0.05). Conclusion:HFRS patients may cause latent EBV activity, complicate their clinical features, cause severe renal damage and prolong the recovery time of renal function.

The infectious disease outpatient service as a frontier is an important fulcrum of public health service. Its standardized construction is an important support for ensuring medical safety, reducing nosocomial infections, and controlling the epidemic of infectious diseases. The sub-specialty outpatient service of infection diseases includes fever outpatient service, intestinal outpatient service, tuberculosis outpatient service, AIDS outpatient service, liver disease outpatient service, etc. According to the characteristics of each subspecialty outpatient service and combining with clinical practice, we elaborated the setting norms of subspecialty outpatient service for common infectious diseases from the perspective of planning and design, building layout, equipment and facilities configuration, staffing, daily management and demonstration.

Objective To explore the application method and value of mind mapping in the clinical teaching of general practitioners for the purpose of improving the teaching qualities. Methods A total of 60 GPs were divided into the test group and control group, undergoing the mind mapping teaching and tra-ditional teaching, respectively. The clinical knowledge achievements were compared in the two groups, and the results were analyzed. At the same time, a questionnaire was conducted. Results The difference between two groups in theoretical teaching was statistically significant (P<0.05), and there was no significant difference in physical examination (P>0.05). In addition, the results of the questionnaire survey showed that the test group was better than the control group in medical knowledge, self-learning ability, interpersonal communication ability, team cooperation ability and other dimensions. Conclusion Mind mapping is an effective teaching tool for general practitioners.

Objective To study the early diagnostic predictors and key follow-up parameters for girls with rapidly progressive central precocious puberty (RP-CPP). Methods A total of 260 girls with CPP participated in a prospective, nonrandomized, multi-center, nested case control study. After follow-up six months without any therapy, 114 girls were divided into RP-CPP (n=70) and slowly progressive CPP (SP-CPP) (n=44) groups. Results The basal serum LH and insulin-like growth factor Ⅰstandard deviation score (IGF-ⅠSDS) were the important risk factors of RP-CPP (OR 4.04, 1.578), especially the former. The receiver operating characteristic (ROC) curve revealed that the areas under the ROC curve of basal LH and IGF-ⅠSDS were 0.83 and 0.807, respectively. The levels of basal LH and IGF-ⅠSDS were at 0.52 mIU/ml and 0.35 respectively for the accuracy diagnosis of RP-CPP with the maximum Youden indexs. After follow-up for six months, the change levels of height, breast stages, bone age/chronological age ratio, serum LH, uterine and ovarian volume in RP-CPP group were significantly higher than those in SP-CPP group (all P<0.05). Conclusions The level of basal serum LH and IGF-ⅠSDS may be used as the risk predictors for early diagnosis for girls with RP-CPP. The change levels of basal LH, progress rates of gonad and sex character, height, and impaired growth potential seem to be the key follow-up parameters for CPP progress.

Objective To explore the effect of nucleos(t)ide analog (NA)antiviral treatment on the pathological differentiation of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC)and the prognostic factors of HCC.Methods Totally 127 patients with HBV-related HCC who were hospitalized and received partial hepatectomy in First Affiliated Hospital of Harbin Medical University from March 2007 to November 2013 were included in this study.Sixteen cases received antiviral treatment before operation and the remaining 111 cases had no history of NA treatment.The differences of histopathological grading were compared between the two groups.Twenty-nine patients received antiviral treatment for the first time after surgery,and the rest 82 patients did not.All these patients were followed up for survival and recurrence.Multivariate analysis was used to explore the prognostic factors for HCC.The categorical variables were analyzed byχ2 test or Fisher exact test.Survival rate was compared with Log-rank test. Univariate or multivariate Cox regression analysis was used to explore the related factors of survival. Results The proportions of well-,moderately- or poorly-differentiated HCC in patients with antiviral treatment before surgery were 18.75 %,68.75 % and 12.5 %,respectively.Whereas the proportions in those without treatment were 16.22%,66.67% and 17.11 %,respectively.There was no significant difference in histopathological grading of HCC between the two groups (χ2=0.224,P =0.885 ).The overall median survival time was 39 months.The 6-month,1-and 2-year survival rates were 91 .7%, 77.5 % and 59.3%,respectively.The 6-month,1- and 2-year survival rate of postoperative antiviral treatment were 96.3%,92.4% and 78.5 %,respectively,which were significantly higher than those of no antiviral treatment group (85 .9%,70.0% and 48.5 %,respectively;χ2= 6.967,P = 0.008 ). Univariate analysis showed that tumor number,size,portal vein transfer,AFP level,postoperative antiviral treatment,histopathological grading,TNM staging,BCLC staging,γ-GT and PTA were prognostic factors for postoperative HCC survival.Multivariate analysis showed that AFP level (HR=1 , 95 %CI :1 .0004—1 .002,P =0.004),postoperative antiviral treatment (HR =0.38,95 %CI :0.38—0.15 ,P =0.04)and BCLC stage (B vs A:HR=1 .55 ,95 %CI :0.76—3.18;C vs A:HR=3.63,95 %CI :1 .31 —10.09,P =0.04)were independent prognostic factors.Conclusions Preoperative antiviral treatment has no impact on the histopathological grading of HCC. BCLC stage, AFP level and postoperative antiviral treatment are independent prognostic factors for HBV-related HCC.

Objective To investigate the possibility and feasibility of the whole genome microarray scanning technique in clinical cytogenetic diagnosis of an uncertain karyotype and mentally retarded child. Methods The karyotype analysis of the mental development delayed child was 47, XY+mar. Genomic DNA was extracted from the peripheral blood and the whole genome microarray scanning technique was used to analyze the derivative chromosome. Results The whole genome microar-ray scanning technique indicated the derivative chromosome fragment had originated from 9p13.1-p24.3. Conclusions Com-paring to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which can detect the submicroscopic chromosomal aberrations and replace the conven-tional karyotype analysis.

10.3969/j.issn.1000-3606.2013.06.019