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Characterized by impaired neuromuscular transmission, congenital myasthenic syndromes (CMS) are a group of genetic disorders.The main manifestations include fatigue and weakness of skeletal muscle, with most onset in infant or early childhood.The common cause of death is respiratory failure, with high disability rate.With the improvement of gene sequencing technology and the in-depth study on the structure and function of pathogenic proteins, the pathogenesis of the disease has been deeply understood in the past 20 years.Early diagnosis and treatment can significantly improve the symptoms in patients.In this manuscript, the etiology, clinical characteristics, diagnosis and treatment of CMS are reviewed.
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Objective:To describe clinical characteristics, genetic mutation and therapeutic response of a family diagnosed as slow-channel congenital myasthenia syndrome (SCCMS) and analyze the factors of the efficacy of channel blockers therapy.Methods:Clinical data and therapeutic response in three patients from a family of SCCMS from Department of Neurology, Xuanwu Hospital, Capital Medical University in May 2017 were collected. The clinical data, mutations and response to therapy of all literature SCCMS cases in the English database of Pubmed and Chinese database of Wanfang until December 31, 2018 were analyzed statistically.Results:The proband was a 48-year-old female who referred to Xuanwu Hospital for limb weakness for 40 years. The proband′s elder daughter presented with onset of the birth and delayed motor milestones, scoliosis and difficulty in walking. The younger daughter was born healthy with normal motor milestones, while fatigue and weakness gradually appeared. The antibodies of myasthenia gravis were negative. No repetitive compound muscle action potentials (CMAP) were detected in three patients. Repetitive nerve stimulation showed decrements. Gene test revealed heterozygous mutation of CHRNE p.εV279F, a known pathogenic mutation of SCCMS. Seventeen SCCMS cases were reported in literature. A total of 20 patients with SCCMS were described in terms of clinical manifestation, mutation, drug therapy and efficacy in detail. According to the literature description, they were divided into significant benefit group and mild to modest benefit group to channel blocker therapy. The age of onset in 10 patients with significant benefit was 1.50 (0.75, 28.25) years from birth to 43 years, and that in 10 patients with mild to modest benefit was 2.50 (0, 6.25) years from birth to 11 years. There was no significant difference between the two groups. The age at the initial channel blocker therapy in the group with significant benefit was (23.40±13.29) years from 12 to 43 years, whereas that in the group with mild to modest benefit was (34.10±13.43) years from 20 to 62 years, and there was no significant difference between the two groups. The delay time of treatment (age at the beginning of treatment with channel blockers-age of onset) in patients with significant benefit was 13.0 (10.25, 15.00) years, which was 32.50 (19.25, 38.00) years in patients with mild to modest benefit ( Z=-3.374, P=0.000). According to the response of cholinesterase inhibitor, eight patients were in the effective group, 10 patients were in the ineffective group and two patients were without cholinesterase inhibitor. The age of onset in the effective group was 0 (0, 4.75) years, while that in the ineffective group was 6.50 (1.00, 28.25) years ( Z=-2.315, P=0.021).The age of treatment with channel blockers was (27.90±12.99) years in the effective group and (32.00±13.21) years in the ineffective group, and there was no significant difference between the two groups. The delay time of channel blocker treatment in effective group was (30.25±11.07) years, while that in ineffective group was (14.30±9.60) years ( t=-3.274, P=0.005). Conclusions:In SCCMS, the effect of channel blockers was related to the delay time of treatment. Channel blocker was more effective the sooner it was started after the onset of symptoms. The average age of onset of SCCMS patients with positive responses to cholinesterase inhibitor was younger, but the delay time of channel blocker therapy was longer, resulting in poor therapeutic effect.
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Objective To summarize the clinical experience of hepatectomy with hepatic artery resection and reconstruction using gastroduodenal artery during radical resection of hilar cholangiocarcinoma.Methods From Dec.2004 to Dec.2008,nine cases of hilar cholangiocarcinoma with hepatic artery invasion were subjected to radical resection comhined with tumor invaded hepatic artery resection and reconstruction using gastroduodenal artery.The clinical data of these patients were reviewed.Results Nine cases underwent hilar cholangiocarcinoma radical resection with hepatic artery resection,immediate hepatic artery reconstruction using gastroduodenal artery end to end anastomosis while hepatic artery resection exceeding 1 cm.One patient underwent partial resection of the portal vein and repair using autogenous segment of great saphenous vein.Roux-en-Y hepaticojejunostomy was performed in 9 patients with intrahepatic bile duct stents in 8 patients.All patients suffered from postoperative transient SIRS and recovered within 2-3 days after operation.One patient experienced massive bleeding from the upper alimentary tract 3 day after operation and the bleeding was controlled afterwards.The blood flow in the reconstructed hepatic arteries monitored by Doppler was normal two weeks after operation.There was no inhospital mortality.9 patients were followed up for 1-4 years,the median survival time is 23 months (6 months to 32 months).Conclusion Hepatic artery can be reconstructed using gastroduodenal artery during a radical resection of hilar cholangiocarcinoma,and hepatic artery reconstruction decreases the postoperative complications.