Interpretation of standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / 中华实验眼科杂志

Sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing (NGS). By adopting NGS, more and more ophthalmologists and medical institutions are now performing genetic testing for molecular diagnosis and genetic research in genetic ocular disorders.Genetic testing has gradually become an indispensable test item in the diagnosis and treatment of patients with monogenetic ocular diseases and has been accompanied by new challenges in sequence interpretation due to increased complexity.As we know, NGS can detect a large number of the genetic variation data.Without strict standards to distinguish pathogenic variation from many potential functional variations in the human genome, false positive judgments of causality may be accelerated, which may hind the application and promotion of genetic diagnosis in clinical diagnosis as well as the biological understanding of diseases.The American College of Medical Genetics and Genomics (ACMG) has developed guidances for the interpretation of sequence variants and the Chinese Branch of Genetic Counseling has organized some experts in the field of genetic compiled the Chinese version of the ACMG Standards and Guidelines, which is one of the reference bases to help us interpret genetic variation.This article interpreted the ACMG Standards and Guidelines in order to provide reference for Chinese ophthalmologists in the classification of genetic variation, determination of pathogenic variation, application in clinical diagnosis and related genetic research.

Standard on classification of Traditional Chinese Medicine ancient books / 国际中医中药杂志

The standardization of classification methods of Traditional Chinese Medicine(TCM) ancient books can provide a clear and reliable reference for all kinds of TCM ancient books collection units, which can also promote the sharing and utilization of TCM ancient books. We studied and investigated the classification methods of TCM ancient books in past dynasties. The standard on classification of TCM ancient books was formulated by compared with the classification table of Zhongguo Zhongyi Guji Zongmu, and referred to the classification table of Zhonghua Guji Zongmu. This standard specified three-level categories and classification principles of TCM ancient books, and mainly composed of basic categories, three-level category table, classification principles and examples, and instructions for use.

Study on seed quality test and quality standard of Lonicera macranthoides / 中国中药杂志

Referring to the rules for agricultural seed testing (GB/T 3543-1995) issued by China, the test of sampling, purity, thousand seed weight, moisture, viability, relative conductivity and germination rate had been studied for seed quality test methods of Lonicera macranthoides. The seed quality from 38 different collection areas was measured to establish quality classification standard by K-means clustering. The results showed that at least 7.5 g seeds should be sampled, and passed 20-mesh sieve for purity analysis.The 500-seed method used to measure thousand seed weight. The moisture was determined by crushed seeds dried in high temperature (130±2) ℃ for 3 h.The viability determined by 25 ℃ 0.1% TTC stained 5h in dark. 1.0 g seeds soaked in 50 ml ultra pure water in 25 ℃ for 12 hours to determine the relative conductivity. The seed by 4 ℃stratification for 80 days were cultured on paper at 15 ℃. Quality of the seeds from different areas was divided into three grades. The primary seed quality classification standard was established.The I grade and II grade were recommend use in production.

The diagnostic value of NBI combined with magnifying endoscopy using VS classification standard for ;early gastric carcinoma lesions / 中华消化内镜杂志

Objective To study the diagnostic value of NBI combined with magnification endoscopy using VS classification standard for early gastric carcinoma lesions.Methods A total of 100 patients with suspected early gastric cancer whose gastric mucosa showed roughness,erosion,abnormal colour or ulcer were collected from January 2013 to June 2014.The lesions were observed under white light endoscopy and then underwent biopsy.Observation and biopsy were conducted in the same location by NBI-ME with self contrast method 2 weeks later.Patients in group A underwent NBI-ME,then were diagnosed by VS classifi-cation standard.Patients in group B were diagnosed with white light endoscopy.The sensitivity,specificity, positive predictive value,negative predictive value and accuracy between group A and group B were com-pared.Results The sensitivity,specificity,positive predictive value,negative predictive value and accura-cy of white light endoscopy in the diagnosis of early gastric carcinoma lesions were 76.19% (16 /21 ), 45.57%(36 /79),27.12%(16 /59),87.80%(36 /41)and 52.00%(52 /100),respectively;while the these variables of NBI-ME for early gastric carcinoma lesions were 95.24%(20 /21),97.47%(77 /79), 90.91%(20 /22),98.72%(77 /78)and 97.00%(97 /100),respectively.The accuracy of NBI-ME for early gastric carcinoma lesions was significantly higher than that of white light endoscopy(χ2 =53.30,P <0.01).Conclusion NBI-ME is convenient and effective in the diagnosis of early gastric carcinoma lesions with high consistency of pathology and good clinical application value.

Evaluation and Rehabilitation of Acalculia(review) / 中国康复理论与实践

@#Despite the general agreement that calculation ability is an important component of cognition,and a comprehensive cognitive evaluation should include testing for calculation ability,there is a significant paucity in study and evaluation of acalculia.In this paper,the concepts and classification of acalculia are proposed;main neuropsychological theoretical models and cerebral mechanisms are presented;clinical appearances,standard testing instruments and related study of acalculia are intensively reviewed;finally,rehabilitation training of acalculia is initially discussed.