Objective Through description of the clinical,electrophysiological,pathological and gene sequencing characteristics of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis to broaden the understanding of skeletal muscle channel disease and provide the reference for clinical diagnosis.Methods The clinical manifestation,electromyography,muscle pathology and gene sequencing of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis in the First Hospital of Shanxi Medical University in October 2017 were collected.Results The proband represented myotonia and episodic muscle weakness,and the manifestations of different patients of the family were varied,including myotonia,episodic muscle weakness or myotonia and episodic muscle weakness.The electromyography of the proband showed myotonic potential,and the compound muscle action potential decreased by 36％ in 40 minutes after exercise in the long exercise test in cold environment (11 ℃).The gene sequencing showed α-subunit type Ⅳ of voltage gated sodium channel (SCN4A) gene p.R1448H mutation.Conclusions The proband presented with paramyotonia congenita and hypokalemic periodic paralysis.Family clinical manifestations suggested phenotypic heterogeneity.The long exercise text in cold environment (11 ℃) confirmed the diagnosis of the proband as paramyotonia congenita and hypokalemic periodic paralysis.Family gene sequencing showed that the mutation of p.R1448H in SCN4A gene was the pathogenic gene mutation site of paramyotonia congenita and hypokalemic periodic paralysis.

Objective:To investigate the effects of three monomer components stilbene glycoside, emodin, catechin of Polygonum multiflorum on damages of liver tissue and cell.Methods:A total of 48 rats were randomly divided into four groups of stilbene glycoside, emodin, catechin-and normal saline(control)-treated groups(n=12, each). Rats were gavaged with the same dose of 1 g/kg for stilbene glycoside, emodin, catechin groups and normal saline for control group for 28 days.During the administration, the general state of rat was observed.After the last administration, serum biochemical indexes related to liver function were detected.Pathological morphological changes of liver tissue were observed by hatmatoxylin-Eosin(HE)staining.The expression levels of apoptosis-related proteins in liver tissue were determined by Western blot.Cells of human normal liver cell line LO2 divided into the stilbene glycoside-, emodin-, catechin-treated cells groups were cultured with 7 different concentrations of interfering agents for 24 h and 48 h respectively, and cultured with normal saline in the control group for the same time.Cell proliferation was observed using the cholecystokinin octapeptide(CCK8), and the mRNA expressions of apoptosis-related factors were detected using PCR.Results:After 28 days of feeding, there was no significant difference in body weight and food intake among the four groups( P>0.05). Pathological liver damage and abnormal liver biochemical indexes were observed in rat liver tissues in the emodin and catechin groups( P<0.05). Compared with the control group, the expression levels of anti-apoptotic proteins Bcl-2 were decreased(0.34±0.03, 0.41±0.07 vs.0.45±0.04, P<0.05), the expression levels of apoptotic proteins Caspase-3 and Bax were increased(0.76±0.03, 0.27±0.06 vs.0.03±0.00; 0.44±0.03, 0.15±0.04 vs.0.02±0.00, P<0.01), and those in the stilbene glycoside group were normal.Compared with the control group, emodin and catechin-treated cell groups showed the concentration-and time-dependent proliferation inhibition in LO2 normal hepatocytes( P<0.05)after treatment.And the mRNA expression of hepatocyte apoptosis factors Bax and Caspase-3 were increased(1.74±0.05, 1.29±0.01 vs.0.89±0.12, 1.21±0.07, 1.25±0.01 vs.0.97±0.07, P<0.01), and that of anti-apoptotic proteins Bcl-2 was decreased(0.06±0.06, 0.56±0.11 vs.1.39±0.18, P<0.01). Compared with the control group, the survival rate had no significant difference in the stilbene glycoside treated-cell group( P>0.05), while its mRNA expression of hepatocyte apoptosis factors was reduced( P<0.05). Conclusions:No obvious liver damage is found in rats treated with the stilbene glycoside of Polygonum multiflorum, but the emodin and catechin cause damages of liver tissue and cell in vivo and in vitro.