Objective To systematically investigate PIK3CA mutations in isolated macrodactyly.Methods Overgrowth tissues from 12 isolated macrodactyly patients who were treated at Department of Hand Surgery,Beijing Jishuitan Hospital from May to August 2017 were collected during operation.There were 6 male and 6 female patients with average age of 4.5 years.DNA was tested for PIK3CA mutation using a targeted Sanger DNA sequencing method.Samples with negative Sanger result were tested with a next generation DNA sequencing(NGS) panel targeting 47 cancer hotspot genes including PIK3CA.Results By targeted Sanger sequencing,PIK3CA mutations were detected in 9 of the 12 patients,with mutation level ranging from 7％ to 27％.The PIK3CA mutations observed were p.His1047Arg,p.His1047Leu,p.Glu545Lys,and p.Glu542Lys.NGS found p.Glu453Lys in one additional patient,allowing the total positive rate to 10/12.All PIK3CA mutations detected in the study were cancer hotspot mutations.Among all tissue types tested,adipose tissue had the highest mutation detection rate (9/9),followed by nerve(10/12) and skin(10/12).Conclusions A high proportion of isolated macrodactyly patients carry a PIK3CA mutation.Adipose,nerve,and skin are ideal tissue resources for PIK3CA mutation detection.Targeted Sanger sequencing with reflex to NGS represents a cost-effective strategy to test PIK3CA mutations in isolated macrodactyly.

Objective To systematically investigate PIK3CA mutations in isolated macrodactyly.Methods Overgrowth tissues from 12 isolated macrodactyly patients who were treated at Department of Hand Surgery,Beijing Jishuitan Hospital from May to August 2017 were collected during operation.There were 6 male and 6 female patients with average age of 4.5 years.DNA was tested for PIK3CA mutation using a targeted Sanger DNA sequencing method.Samples with negative Sanger result were tested with a next generation DNA sequencing(NGS) panel targeting 47 cancer hotspot genes including PIK3CA.Results By targeted Sanger sequencing,PIK3CA mutations were detected in 9 of the 12 patients,with mutation level ranging from 7％ to 27％.The PIK3CA mutations observed were p.His1047Arg,p.His1047Leu,p.Glu545Lys,and p.Glu542Lys.NGS found p.Glu453Lys in one additional patient,allowing the total positive rate to 10/12.All PIK3CA mutations detected in the study were cancer hotspot mutations.Among all tissue types tested,adipose tissue had the highest mutation detection rate (9/9),followed by nerve(10/12) and skin(10/12).Conclusions A high proportion of isolated macrodactyly patients carry a PIK3CA mutation.Adipose,nerve,and skin are ideal tissue resources for PIK3CA mutation detection.Targeted Sanger sequencing with reflex to NGS represents a cost-effective strategy to test PIK3CA mutations in isolated macrodactyly.

Arrhythmia is an important disease among cardiovascular diseases. Malignant arrhythmias often occur clinically and are induced by abnormal ion channels， electrical activity disorders， myocardial fibrosis， inflammation， dysfunctional mitochondrial biogenesis， mitochondrial calcium overload， out-of-balance energy metabolism， oxidative stress， sympathetic hyperactivity， and other pathological cardiac remodeling， and they are the main causes of sudden cardiac death. In traditional Chinese medicine， arrhythmias are considered to be palpitations， which are commonly caused by deficiency of Qi and Yin. It is often manifested as a deficiency of the spleen and stomach， resulting in malfunction of the Qi mechanism， followed by a particularly severe decline in cardiac function. Shengmaisan is a representative formula for nourishing Qi and Yin， consisting of Ginseng Radix et Rhizoma， Ophiopogonis Radix， and Schisandrae Chinensis Fructus. In recent years， clinical studies have shown that Shengmaisan and its additions and subtractions are commonly used in the treatment of arrhythmias. In this article， the mechanisms of the active ingredients of Shengmaisan in the electrophysiology， biochemistry， structure， autonomic nervous system， and subcellular fraction of the heart are reviewed， and the multi-target， multi-system， and integrality of Shengmaisan in the treatment of arrhythmias of Qi and Yin deficiency are described. In addition， energy metabolism disorder is tightly juxtaposed with Qi and Yin deficiency syndrome. Mitochondria， as the center of myocardial energy metabolism， play a paramount role in cardiac remodeling， indicating that Shengmaisan will be a salient part of future research to ameliorate cardiac pathologic remodeling through energy metabolism of mitochondria， so as to provide a theoretical basis for the clinical treatment of these arrhythmias.