Comparison of microsurgical clipping and intravascular interventional embolization on nerve function recovery in patients with posterior communicating aneurysm combined with oculomotor paralyses / 中国医师杂志

Objective To compare the influences of microsurgical clipping and intravascular interventional embolization on the nerve function recovery in patients with posterior communicating aneurysm combined with oculomotor paralyses.Methods Eighty-six patients with posterior communicating artery aneurysm accompanied by oculomotor nerve palsy admitted to Qianjiang Central Hospital of Chongqing from May 2015 to May 2017 were randomly divided into observation group (n =43) and control group (n =43) by random number table method.The control group was treated with microsurgical clipping,while the observation group was treated with intravascular interventional embolization.The therapeutic effect,neurological function recovery,postoperative complications and prognosis of the two groups were compared.Results The operation time,intraoperative blood loss,postoperative respiratory recovery time and postoperative extubation time of the observation group were significantly less than those of the control group (P ＜ 0.05);the complete recovery of the observation group was significantly higher than that of the control group,and no recovery was significantly lower than that of the control group (P ＜ 0.05);the incidence of complications in the observation group was significantly lower than that in the control group (P ＜ 0.05);the proportion of 5 points in the observation group was significantly higher than that in the control group (P ＜ 0.05).Conclusions Intravascular interventional embolization in the treatment of posterior communicating aneurysm combined with oculomotor paralyses can promote the recovery of nerve function,reduce the incidence of postoperative complications,have a good prognosis and a definite effect,which can be used as the first choice of treatment.

A family with Andersen-Tawil syndrome induced by a new mutation Q164R in the KCNJ2 gene and previous literature review / 中华神经科杂志

Objective To discuss clinical characteristics of a family with Andersen-Tawil syndrome, test and analyze the mutation of their pathogenic gene, and to discover the dependency of genotype and phenotype by searching every reported Andersen-Tawil syndrome patient in all accessible literature worldwide.Methods In December 2nd,2016,two patients in the Department of Neurology,the First Hospital of Shanxi Medical University, received medical history data collection and relevant examinations.PCR and DNA sequencing were applied to detect ion channel diseases related genes such as SCN4A, CACNA1S, KCNJ2, KCNE3, KCNE4, KCNJ18, KCNJ5.Random selection of 200 healthy volunteers from Shanxi Medical University served as normal controls.Andersen-Tawil syndrome cases,which are accorded with statistical criteria in published literature, were collected.Their genotype and phenotype were analyzed and summarized.Results Clinical manifestation of the pre-confirmed patient and his father was accorded with diagnostic criteria of Andersen-Tawil syndrome.Prominent characteristics included ventricular arrhythmia, periodic paralysis, and dysmorphic features.The two patients had renal tubular acidosis.One of these two patients also had increased level of renin-angiotensin-aldosterone.New mutation Q164R in the KCNJ2 gene was found in these two patients.There was no report in any literature or any database that we could find about this gene mutation at present.The mutation was not found among other healthy family members and 200 healthy controls.In this study,we referenced 55 samples of Andersen-Tawil syndrome in 12 articles,in which 54 samples are KCNJ2 gene mutation,one is KCNJ5 gene mutation.We concluded a negative correlation between the onset age of periodic paralysis and the onset age of cardiac symptoms after a statistical analysis of these 54 patients with KCNJ2 gene mutation(rs=-0.698 1,P=0.005 5).The incidence of cardiac symptoms in patients of Andersen-Tawil syndrome with periodic paralysis was reduced(33.33%(14/42)vs 9/11, χ2=6.485,P=0.011).Men(96.00%(24/25))were found more likely to have periodic paralysis than women(65.52%(19/29); χ2=7.691,P=0.006).Women (64.29%(18/28))were found more likely to have cardiac symptoms than men(20.00%(5/25); χ2=10.545,P=0.001).Conclusions New mutation Q164R in the KCNJ2 gene is the cause of Andersen-Tawil syndrome,which could cause renal tubular acidosis.We speculate that the gene may play a role in the way of potassium regulating aldosterone.For women with the KCNJ2 gene mutation and the late-onset of periodic paralysis,it is important to take drug or manual intervention as early as possible to prevent the occurrence of cardiogenic adverse events.

Clinical phenotypes and pathological features in myopathies with tubular aggregates / 中华神经科杂志

Objective To summarize clinical phenotypes and pathological characteristics in myopathies with tubular aggregates (TAs).Methods We reviewed 5 697 patients who performed muscle biopsies in our department between January 2001 and July 2015.We collected the cases with TAs and made classification based on their clinical diagnoses and pathological changes.Results Fifty-seven patients (1.00％) showed TAs in muscle specimens,including 50 (87.72％) males and 7 (12.28％) females.According to clinical,neurophysiological,pathological and genetic analysis,the diagnoses included 23 (40.35％) cases of periodic paralysis,7 (12.28％) cases of chronic alcohol intoxication,6 (10.53％) cases of congenital myasthenic syndrome,5 (8.77％) cases of exercise-induced cramps,3 (5.26％) cases of necrotizing myopathy,1 (1.75％) case of stromal interaction molecule 1-associated myopathy,limbgirdle muscular dystrophy 2E,myotonic dystrophy,myotonia congenita,paramyotonia congenitia,hypothyroid myopathy respectively.Other cases of unknown cause included unclassified distal myopathy,external ophthalmoplegia,white matter lesions,mental retardation,stroke,early onset weakness,pulmonary arterial hypertension.Besides TAs,pathological changes also included necrosis of muscle fibers (3 cases,5.26％),neurogenic changes (3 cases,5.26％) and muscular dystrophic changes (1 case,1.75％).Conclusions Our results indicated that TAs are usually found in males and could present in many types of hereditary or acquired neuromuscular disease as independent or accompanying changes.Periodic paralysis,chronic alcohol intoxication and congenital myasthenic syndrome are 3 major diseases causing myopathies with TAs.

Acupuncture in Treating Musculospiral Paralyses and the Observation of Electromyogram / 上海针灸杂志

ObjectiveTo observe the clinical efficacy of acupuncture in treating musculospiral paralyses.MethodSixty patients with musculospiral paralyses were elected to receive acupuncture treatment. The motor function and electromyogram (EMG) were detected after 14-day treatment.ResultOf the 60 patients, 36 were recovered, 21 showed improvement, 3 failed in the treatment, and the total effective rate was 95.0%.ConclusionAcupuncture can produce a significant efficacy in treating musculospiral paralyses, and it benefits the recovery of motor function of the impaired nerve.

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

BACKGROUND AND PURPOSE: Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myotonia, and congenital myasthenic syndrome. This study analyzed the clinical and mutational spectra of skeletal muscle sodium channelopathy in Korean subjects. METHODS: Six unrelated Korean patients with periodic paralysis or nondystrophic myotonia associated with SCN4A mutations were included in the study. For the mutational analysis of SCN4A, we performed a full sequence analysis of the gene using the patients' DNA. We also analyzed the patients' clinical history, physical findings, laboratory tests, and responses to treatment. RESULTS: We identified four different mutations (one of which was novel) in all of the patients examined. The novel heterozygous missense mutation, p.R225W, was found in one patient with mild nonpainful myotonia. Our patients exhibited various clinical phenotypes: pure myotonia in four, and PMC in one, and HYPP in one. The four patients with pure myotonia were initially diagnosed as having myotonia congenita (MC), but a previous analysis revealed no CLCN1 mutation. CONCLUSIONS: Clinical differentiating between sodium-channel myotonia (SCM) and MC is not easy, and it is suggested that a mutational analysis of both SCN4A and CLCN1 is essential for the differential diagnosis of SCM and MC.

The detection of a novel mutation by screening SCN4A gene in normokalemic periodic paralysis / 中华神经科杂志

Objective To detect a novel mutation in SCN4A gene related to normokalemic periodic paralysis (normoPP) in one Chinese family.Methods Genomic DNA of two patients and their relatives in this family was extracted from peripheral blood leukocytes and amplified by polymerase chain reaction (PCR). All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology,and then sequence analysis of those DHPLC chromatograms showing heteroduplex were compared with the unaffected controls.Results Routine laboratory tests were carried on within normal ranges with the exception of an elevated creatine kinase (1126 U/L,normal