A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020" / 中华医学遗传学杂志

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020, a supplementary practical guidelines, is based on the Standards and Guidelines for the Interpretation of Sequence Variations issued by the American Society for Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) in 2015 by the British Medical Genetics Society under the Clinical Genomics Society (ACGS), and has integrated the detailed rules of standards developed by the ClinGen Sequence Variant Interpretation (SVI) Working Group by 2020. The further development of the ACMG/AMP guidelines is currently undertaken by the ClinGen SVI working group in the United States, which focuses on the classification of high penetrance and protein coding variants. ClinGen has established many expert panels on variants for specific diseases which required various evidence thresholds and is currently developing disease/gene specific guidelines. The British Medical Genetics Society has collected and integrated information on the guidelines for sequence variation classification and their extended rules, forming its own "2020 ACGS Best Practice Guidelines for Rare Disease Variation Classification" and is regularly updating it. The author has translated and summarized it for the reference of Chinese Medical Genetics Practitioners.

Dual plating internal fixation for the emergency surgery of complex distal humeral fractures / 中国医师进修杂志

Objective To investigate the efficacy of dual plating internal fixation with olecranon osteotomy approach for the emergency surgery of complex distal humeral fractures (intereondylar and supracondylar fracture).Methods Forty-seven cases of complex distal humeral fractures were treated with emergency surgery from May 2002 to May 2007.The dual plating internal fLxation was implemented with olecranon osteotomy approach in a posteubital slight arc shaped median incision.Early postoperative rehabilitation was necessary.Results The follow-up period differed from 5 to 50 months,averaged 18 months.All fractures healed in 3-6 months after surgery.The Cassebaum scoring system was used for the assessment of cubital joint function,36 cases were excellent,4 cases were good,5 cases were common,and 2 cases were bad.The excellent and good rate was 85.1%.Conclusions For complex distal humeral fractures,dual plating internal fixation emergency surgery with olecranon osteotomy approach ensures the early postoperative rehabilitation of the cubital joint and the maximum possible functional recovery.It shows the efficacy is satisfactory.