ABSTRACT
OBJECTIVE@#To explore the clinical features of a Chinese pedigree affected with skeletal muscle sodium channelopathies due to variation of SCN4A gene.@*METHODS@#Potential variation of the 24 exons of the SCN4A gene was screened using PCR and Sanger sequencing.@*RESULTS@#Four family members were affected with the disease in an autosomal dominant inheritance pattern. Three patients had normekalemic periodic paralysis, while 1 showed paramyotonia congenita. Genetic analysis detected a missense variation c.2078T>C (p.Ile693Thr) in exon 13 of the SCN4A gene in the proband and other 3 affected relatives.@*CONCLUSION@#Normokalemic periodic paralysis and paramyotonia congenita can occur in different family members with skeletal muscle sodium channelopathies due to c.2078T>C(p.Ile693Thr) variation of SCN4A gene.
Subject(s)
Humans , Channelopathies , Genetics , Muscle, Skeletal , Mutation , Genetics , PedigreeABSTRACT
Objective To evaluate the treatment of ilioinguinal approach surgery associated acute iatrogenic deep venous thrombosis (DVT).Methods The clinical data and treatment of 11 patients with ilioinguinal approach surgery associated acute iatrogenic DVT were analyzed.Results These 11 patients initially suffered from complicated acetabulum fracture,7 cases were treated by single ilioinguinal approach surgery and the other 4 cases were combined with Kocher-Langenbeck approach.In 3 days after surgery,DVTs were found by Doppler sonography,and all the DVTs were proved having closed relationships with ilioinguinal approach through digital subtraction angiography(DSA):iliac-femoral veins appeared stenosis at ilioinguinal segment in all the 11 cases,DVTs were found distal to the stenosis in 9 cases,both sides in 2 cases (1 case combined extensive iliac vein emphraxis and the other case combined extensive femoral vein emphraxis).After retrievable inferior vena cava filters were implanted,11 patients received catheter-directed thrombolysis for 5-12 days.Complete thrombolysis was achieved in 8 cases and thrombi residual left in 3 cases.The iliac-femoral veins were recanalized completely.After (10 ± 4) month fellow-up,no DVT recurred and no PTS appeared.Conclusions Ilioinguinal approach surgery seriously effects iliac-femoral veins,and is a important precipitating factor of DVT.Early catheter-directed thrombolysis under the protection of inferior vena cava filter is an effective treatment.