5.Ketogenic diet therapy in the epilepsy of infancy with migrating focal seizures associated with TBC1D24 gene mutation: two case reports and literature review
Jun HU ; Zhongling KE ; Ying XU ; Zheng CHEN ; Yanhui CHEN
Chinese Journal of Neurology 2021;54(6):567-573
Objective:To investigate the efficacy and safety of ketogenic diet (KD) therapy in the epilepsy of infancy with migrating focal seizures (EIMFS) associated with TBC1D24 gene mutation.Methods:Clinical data of two children with TBC1D24 gene-related EIMFS were collected retrospectively, who were admitted to Department of Pediatrics, Fujian Medical University Union Hospital from 2019 to 2020. Their clinical characteristics and the efficacy and safety of KD therapy were analyzed, and literature review was conducted.Results:Seizures were onset before six months old in the two children with TBC1D24 gene-related EIMFS. Multifocal myoclonic seizures were manifested and happened frequently, lasting for more than 30 minutes sometimes. Developmental retardation was obvious in the two children. A small amount of focal sharp, spike, sharp-slow complex, and spike-slow complex waves were showed in the interictal electroencephalography (EEG). TBC1D24 gene mutations were found in the two children, one with a compound heterozygous mutation (c.1025C>T, p.S342L; c.229_c.240delATCGTGGGCAAG,p.I77_K80del), and the other with a homozygous mutation [c.119G>A,p.R40H(Arg40His)]. Both of those were potentially pathogenic. A variety of anti-epileptic drugs showed poor outcome for the two children. The epilepsy was drug-refractory one. After four to 17 months of KD therapy, the epilepsy in the two children was controlled effectively. There was not obvious adverse reactions. Among six children with TBC1D24 gene-related EIMFS in the literature review, four cases were effective or partially effective for KD therapy, one was discontinued due to insufficient ketogenic ratio, and one was discontinued without effect. There were no obvious adverse reactions in the six children.Conclusions:TBC1D24 gene-related EIMFS is mostly drug-refractory epilepsy. Early KD therapy may help to control seizures.
6.Clinical analysis of central venous catheter related infection (CRI)
Min CHEN ; Rijin ZHU ; Feng CHEN ; Xiaopin WANG ; Jun KE
Chinese Journal of Emergency Medicine 2013;22(4):352-355
Objective To investigate the characteristics of pathogens and risk factors of the catheterassociated infection (CAI) in emergency ICU (EICU) in order to design an appropriately therapeutic strategy for the future.Methods From January 2008 to December 2010,a total of 1363 patients were enrolled for this retrospective study.Blood sample taken from the vein with indwelling catheterization and the tips of catheters cut in 5 cm after withdrawn from the veins in 1363 patients were collected for bacterial culture.Results Of 1363 catheters,pathogens were found in 147 (10.79%) after venous catheterization.The daily occurrences of CAI were 3.05 ones per 1000 catheters.Of 147 cases of infection,46.94% pathogens were gram-negative bacilli,40.14% gram-positive cocci,and 12.92% fungi.Unconditional Logistic regression analysis suggested that repeated catheterization,femoral vein catheterization,the application of multi-lumen catheter and long-term indwelling catheterization were the independent risk factors responsible for CAI.Conclusions The risk factors responsible for catheter related infections should be controlled to prevent the occurrence of nosocomial infection.
9.The outcomes and prognoses of in-hospital sudden cardiac death
Shen ZHAO ; Feng CHEN ; Xiaoping WANG ; Qingming LIN ; Jun KE
Chinese Journal of Emergency Medicine 2012;21(9):1022-1025
Objective To explore the incidence,features and outcomes of in-hospital sudden cardiac death (SCD) in order to determine the predictors of survival. Methods The clinical data of 69 patients with cardiac arrest hospitalized from January 2008 through December 2010 were retrospectively analyzed.Information on genders,age,types of arrhythmia was collected and further analyzed to determine these factors associated with the occurrence and outcomes of in-hospital cardiac arrest. Results The overall incidence of SCD was 47.3 / 100 000 per year and 17.4% of them.survived at discharge.The occurrence rate was higher in male than that in female (66.7% vs.33.3%,P <0.01 ),whereas difference in gender did not affect the discharge rate ( P > 0.05 ). Survivors from in-hospital cardiac arrest were significantly younger than non-survivors (man:62.57 ± 12.83 years vs.75.56 ± 10.55 years; women:60.36 ± 13.24years vs.69.53 ± 11.72 years,P < O.01 ).From 62 ECG records of SCD patients,the incidence of nonshockable rhythms was higher than that of shockable rhythms.Compare to the non-shockable rhythms,the shockable rhythms brought a higher rate of restoration of spontaneous circulation (ROSC) (54.5% vs.24.5%,P <0.05),whereas survival rates at discharge between two groups were not statistically different ( 18.2% vs.18.4%,P > 0.05 ).Conclusions Non-shockable rhythms were more common in patients suffering from in-hospital cardiac arrest.Although defibrillation treatment contributed benefit to ROSC among patients with ventricular fibrillation or pulseless ventricular tachycardia,high-quality CPR and post-cardiac arrest care may play a more critical role in the outcomes of in-hospital sudden cardiac death.
10.Clinical Review of Subclinical Epileptiform Discharges in Children with Cerebral Palsy
Jun CHEN ; Ke WANG ; Mei HOU ; Qiang WANG
Chinese Journal of Rehabilitation Theory and Practice 2009;15(4):338-340
The effects of subclinical epileptiform discharges (SEDs) on children with cerebral palsy cannot be ignored. Data from neurodevelopmental clinic studies showed that the overall incidence of SEDs in cerebral palsy was 18%~40%, with the highest in spastic hemiplegia and diplegia. The major pattern of SEDs was focal and multifocal, and was usually found in centro-temporal and parietal regions. The cortex impairment and other complications were risk factors related to SEDs in cerebral palsy. Paroxysmal or frequent long-time SEDs, with the Results of transient or chronic cognitive impairment, have been found to lead to subsequent death of cortical neurons of cerebral palsy patients thereby worsening their prognosis. Valproic acid (VPA), benzodiazepines (BZs) and lamotrigine (LTG) have a role in inhibiting SEDs, while adrenocorticotropic hormone (ACTH) and glucocorticoids have a great role in it.