Objective:To systematically evaluate the current status and methodological quality of guideline and consensus in ovarian stimulation for in vitro fertilization (IVF), and to provide reference for the development of future guidelines and research. Methods:A systematic search was conducted in databases including PubMed, Embase, CNKI, Wanfang, Sinomed and relevant guideline websites from inceptions to October 2024. Data were extracted from the literature that met the inclusion criteria, and methodological quality was assessed using the Appraisal of Guidelines for Research and Evaluation Ⅱ (AGREE Ⅱ) tool. Descriptive analysis was performed with results presented in visual data charts.Results:A total of 23 studies were included, with 8 guidelines and 15 consensus. Totally 21 (91.3%) studies focused on the selection of ovarian stimulation protocols, with the majority concentrating on protocols for patients undergoing IVF treatment for the first cycle, and 12 (52.2%) studies focused on the selection of gonadotropin starting dosage. In terms of methodology, the average standardized scores in the 6 assessment domains of the AGREE Ⅱ tool were as follows: scope and purpose (85.1%), stakeholder involvement (66.6%), rigour of development (36.5%), clarity of presentation (70.1%), applicability (36.4%), and editorial independence (46.2%).Conclusion:Current recommendations in ovarian stimulation for IVF exhibit inconsistencies, and the methodological quality varies, which partially hinders the translation of evidence into clinical practice. Future research should further focus on the selection of ovarian stimulation protocols and gonadotropin starting dosage, promoting the update and refinement of guidelines and consensus to guide the precise treatment of ovarian stimulation.

Objective:To systematically evaluate the current status and methodological quality of guideline and consensus in ovarian stimulation for in vitro fertilization (IVF), and to provide reference for the development of future guidelines and research. Methods:A systematic search was conducted in databases including PubMed, Embase, CNKI, Wanfang, Sinomed and relevant guideline websites from inceptions to October 2024. Data were extracted from the literature that met the inclusion criteria, and methodological quality was assessed using the Appraisal of Guidelines for Research and Evaluation Ⅱ (AGREE Ⅱ) tool. Descriptive analysis was performed with results presented in visual data charts.Results:A total of 23 studies were included, with 8 guidelines and 15 consensus. Totally 21 (91.3%) studies focused on the selection of ovarian stimulation protocols, with the majority concentrating on protocols for patients undergoing IVF treatment for the first cycle, and 12 (52.2%) studies focused on the selection of gonadotropin starting dosage. In terms of methodology, the average standardized scores in the 6 assessment domains of the AGREE Ⅱ tool were as follows: scope and purpose (85.1%), stakeholder involvement (66.6%), rigour of development (36.5%), clarity of presentation (70.1%), applicability (36.4%), and editorial independence (46.2%).Conclusion:Current recommendations in ovarian stimulation for IVF exhibit inconsistencies, and the methodological quality varies, which partially hinders the translation of evidence into clinical practice. Future research should further focus on the selection of ovarian stimulation protocols and gonadotropin starting dosage, promoting the update and refinement of guidelines and consensus to guide the precise treatment of ovarian stimulation.

Pre-testing preparation is the basis and starting point of genetic testing.The process includes collection of clinical information,formulation of testing scheme,genetic counseling before testing,and completion of informed consent and testing authorization.To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS),thereby reducing medical cost and improving clinical efficacy.The analysis of NGS results relies,to a large extent,on the understanding of genotype-phenotype correlations,therefore it is particularly important to collect and evaluate clinical phenotypes and describe them in uniform standard terms.Different types of genetic diseases or mutations may require specific testing techniques,which can yield twice the result with half the effort.Pre-testing genetic counseling can help patients and their families to understand the significance of relevant genetic testing,formulate individualized testing strategies,and lay a foundation for follow-up.

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach.This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China.The flow-chart,common software,key parameters of bioinformatics pipeline for data processing,annotation,storage and variant classification are reviewed,which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.

Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18,the report will be provided to his/her parents or legal guardians).The content of genetic testing report should conform to relevant guidelines,industry standards and consensus.The decisions of clinicians will be made based on the report and clinical indications.Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members.A mechanism of follow-up visit after the genetic testing should be established with informed consent.Data should be shared by clinical institutions and genome sequencing institutions.As findings upon follow-up visit can help with further evaluation of the results,genome sequencing institutions should regularly re-analyze historical and follow-up data,and the updated results should be shared with clinical institutions.All activities involving reporting,genetic counselling,follow-up visiting,and re-analyzing should follow the relevant guidelines and regulations.

OBJECTIVE： To systematically evaluate the efficacy and safety for different infusion schemes of large-dose （＞500 mg/m2） of methotrexate in the treatment of osteosarcoma， and to provide evidence-based reference for clinical treatment. METHODS： Retrieved from Medline， Embase， clinicaltrials.gov， CJFD， Wanfang database and CBM database， observational studies and randomized/non-randomized controlled trials about therapeutic efficacy and safety for different infusion schemes （different doses and infusion time） of large-dose of methotrexate in the treatment of osteosarcoma were included during the establishment of the database to Mar. 2018. After data extraction and quality evaluation with methodological evaluation index of the Newcastle-Ottawa scale， Cochrane 5.1.0 bias risk evaluation tool and non-randomized controlled trials， Meta-analysis or descriptive analysis for blood drug concentration （c）， related toxicity （e.g. incidence of hepatotoxicity， incidence of hemotoxicity） were performed by using Rev Man 5.3 software. RESULTS： Totally 5 studies were included， involving 310 cases. Results of Meta-analyses indicated c0 h [MD＝－240.11， 95％CI（－271.47， －208.75）， P＜0.001]， c24 h [MD＝－0.09， 95％CI （－0.11， 0.08）， P＜0.001]， c48 h [MD＝－0.07， 95％CI （－0.10， －0.05）， P＜0.001]， c72 h [MD＝－0.05， 95％CI （－0.06， －0.03）， P＜0.001] and the incidence of liver toxicity [OR＝0.26， 95％CI （0.10， 0.67）， P＜0.005] in 8 g/m2 group were significantly lower than 10 g/m2 group. Results of descriptive analysis showed that when both groups were given 8 g/m2， c24 h of patients with 2 and 4 h infusion time was significantly lower than that of patients with 6 h infusion time. The incidence of leukopenia and thrombo- cytopenia in 8 g/m2 group was significantly lower than 10 g/m2 group. CONCLUSIONS： In the treatment of osteosarcoma with high-dose of methotrexate， appropriate dosage reduction （e.g. 8 g/m2） and appropriate prolongation of infusion time   （e.g. 6 h） may lead to a better efficacy and safety.

Objeoctive To evaluate the association between blood methotrexate concentrations at 24 hours (C24 h) after the initiation of high-dose methotrexate (HDMTX) infusion and clinical outcomes in patients with hematologic neoplasm.Methods The literature on C24 h after the initiation of HDMTX treatment and clinical outcomes in MEDLINE (Ovid),EMBASE (Ovid),Clinical Trials.gov,CNKI,WanFang Data,and SinoMed databases up to March 2018 were retrieved (the outcome indicators mainly included safety indicators,such as adverse event incidence and effectiveness indicators,such as complete remission rate).The quality of the enrolled literature was evaluated by Newcastle-Ottawa Scale (NOS) and related outcome indicators were analyzed by meta-analysis or descriptive analysis.Results A total of 6 studies were enrolled,including 4 with high quality (NOS scores were 7-9) and 2 with medium quality (both of NOS scores were 6).All the subjects in the 6 studies were children with acute lymphoblastic leukemia (ALL),aged 0.4 to 17.0 years,and a total of 516 HDMTX treatments were given to them.Five studies reported the association between methotrexate C24 h and safety outcomes and 1 reported the association between methotrexate C24 h and effectiveness outcomes.For safety outcomes,compared with C24 h ＜ 10 μ mol/L,methotrexate C24 h ＞ 10 μmol/L might increase the risk of hematological toxicity (OR =4.17,95％ CI:1.17-14.90) rather than the risks of gastrointestinal toxicity (OR =2.22,95％ CI:0.97-5.04),renal toxicity (P =0.130),oral mucositis (P =0.166),or dermal toxicity (P =0.227).Compared with C24 h ＜40 μmol/L,methotrexate C24 h ＞40 μmol/L might increase the risks of hepatotoxicity (OR =16.64,95％ CI:6.35-43.64),oral mucositis (OR =31.73,95％ CI:12.37-81.41),severe oral mucositis (P =0.002),and gastrointestinal toxicity (P =0.003).For effectiveness outcomes,the single study suggested that methotrexate C24 h ＞ 16 μmol/L could increase the complete and partial remission rates (P ＜ 0.05 for both) and decrease the 1.5 year-recurrence rate (P =0.006).Conclusions There was a significant association between methotrexate C24 h and clinical outcomes in children with ALL.Methotrexate C24 h ＞16 μmol/L was significantly associated with a favorable clinical outcome while C24 h ＞ 40 μmol/L was significantly associated with increased risks of hepatotoxicity,oral mucositis,and gastrointestinal toxicity.

Objeoctive To evaluate the association between blood methotrexate concentrations at 24 hours (C24 h) after the initiation of high-dose methotrexate (HDMTX) infusion and clinical outcomes in patients with hematologic neoplasm.Methods The literature on C24 h after the initiation of HDMTX treatment and clinical outcomes in MEDLINE (Ovid),EMBASE (Ovid),Clinical Trials.gov,CNKI,WanFang Data,and SinoMed databases up to March 2018 were retrieved (the outcome indicators mainly included safety indicators,such as adverse event incidence and effectiveness indicators,such as complete remission rate).The quality of the enrolled literature was evaluated by Newcastle-Ottawa Scale (NOS) and related outcome indicators were analyzed by meta-analysis or descriptive analysis.Results A total of 6 studies were enrolled,including 4 with high quality (NOS scores were 7-9) and 2 with medium quality (both of NOS scores were 6).All the subjects in the 6 studies were children with acute lymphoblastic leukemia (ALL),aged 0.4 to 17.0 years,and a total of 516 HDMTX treatments were given to them.Five studies reported the association between methotrexate C24 h and safety outcomes and 1 reported the association between methotrexate C24 h and effectiveness outcomes.For safety outcomes,compared with C24 h ＜ 10 μ mol/L,methotrexate C24 h ＞ 10 μmol/L might increase the risk of hematological toxicity (OR =4.17,95％ CI:1.17-14.90) rather than the risks of gastrointestinal toxicity (OR =2.22,95％ CI:0.97-5.04),renal toxicity (P =0.130),oral mucositis (P =0.166),or dermal toxicity (P =0.227).Compared with C24 h ＜40 μmol/L,methotrexate C24 h ＞40 μmol/L might increase the risks of hepatotoxicity (OR =16.64,95％ CI:6.35-43.64),oral mucositis (OR =31.73,95％ CI:12.37-81.41),severe oral mucositis (P =0.002),and gastrointestinal toxicity (P =0.003).For effectiveness outcomes,the single study suggested that methotrexate C24 h ＞ 16 μmol/L could increase the complete and partial remission rates (P ＜ 0.05 for both) and decrease the 1.5 year-recurrence rate (P =0.006).Conclusions There was a significant association between methotrexate C24 h and clinical outcomes in children with ALL.Methotrexate C24 h ＞16 μmol/L was significantly associated with a favorable clinical outcome while C24 h ＞ 40 μmol/L was significantly associated with increased risks of hepatotoxicity,oral mucositis,and gastrointestinal toxicity.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

OBJECTIVETo establish a clinical database of functional dyspepsia for epidemiological researches and standardizing clinical diagnosis and treatment.

METHODSThe functional dyspepsia database was designed to incorporate the data from in-patients and out-patients with functional dyspepsia treated since July, 2013 and was constructed using Visual Studio. The patient data were collected using a customized case report form designed according to the Roman criteria III and the etiology, symptoms, and treatments of the patients. All the cases deemed ineligible were excluded. The database was displayed on a website and allowed online data entry, case searches and statistical analysis of the clinical parameters.

RESULTS AND CONCLUSIONThe established online database for functional dyspepsia contained data of the general information, clinical symptoms, psychological status, living habits, dietary habits, medical history, examination results, clinical diagnosis, treatment methods and courses, outcomes and data statistics. The database was fully functional and provided complete and standardized data of functional dyspepsia for clinical studies.