ObjectiveTo explore the clinical value of SEEG-guided radiofrequency thermocoagulation therapy in patients with posterior cortex epilepsy.MethodsA case of epilepsy secondary to viral encephalitis was reported in this paper, SEEG implantation confirmed that the seizure began in bilateral posterior head, and the right posterior head was the main area of disabling lesion. After a series of complete preoperative neuropsychological assessment, the right posterior head was found to have functional retention. Therefore, we used a minimally invasive radiofrequency thermocoagulation therapy to damage epileptic foci.ResultsThe patient were followed up for 2 years after operation, the seizure frequency were significantly reduced, and the patients did not show symptoms of functional loss.ConclusionPosterior cortex epilepsy is common in neonates with brain injury. The localization and lateralization of operation is difficult because its EEG showed bilateral discharges, or the seizures start from both sides of posterior head, meanwhile, posterior head involves functional areas, which makes the operation even more difficult. This minimally invasive treatment destroys the lesion and maximizes the protection of the patient's functional areas, which provides a new surgical approach for bilateral posterior cortex epilepsy in the future, especially for symptomatic epilepsy caused by hypoxic-ischemic brain injury and encephalitis.
ObjectiveTo explore the differences in the detection of vigabatrin-associated brain abnormalities on MRI by different MRI sequences, so as to further guide the clinical understanding of VABAM and improve the appropriate imaging sequences. MethodsA total of 353 patients with infantile spasm or epileptic spasm who were admitted to the Epilepsy Center of Yuquan Hospital of Tsinghua University from January 2020 to January 2023 were retrospectively included. MRI was performed in 131 cases, including 3D T1, T2, T1- fluid-attenuated inversion recovery sequence (FLAIR) images, DWI and ADC sequences, of which 65 cases taking VGB. We aim to evaluate the detection of vigabatrin-associated brain abnormalities on MRI by different MRI sequences in these children. Results Among the 65 patients, VABAM was detected in 23 cases, the detection rate was 35.4%. The average dosage of vigabatrin was 100.73±35.54 mg/(kg·d). The positive detection rates of VABAM were 95.7% in DWI sequence, 26.1% in ADC sequence, 21.3% in FLAIR sequence, 4.3% in T2 sequence and 0 in T1 sequence. The detection rate of ADC sequence was significantly different from DWI sequence and T1 sequence, but not from T2 sequence and FLAIR group. ConclusionDWI sequence has irreplaceable advantages in the detection rate of VABAM. Therefore, for patients with infantile spasm and epileptic spasm who take vigabatrin, we should try our best to add DWI sequence scanning to improve the positive detection rate and avoid clinical symptoms, so as to avoid further brain damage.
ObjectiveTo investigate the current situation of ketogenic diet treatment centers in China, including the target, quantity, indication diseases, staffing and regional distribution of ketogenic diet therapy centers.MethodsMembers from the China Association Against Epilepsy (CAAE) received an investigation on the development situation of ketogenic diet therapy in their own epilepsy centers through an online survey. ResultsAt present, there are 91 centers for ketogenic diet therapy in China, and among them, there are 74 centers (81.32%) only treat pediatric patients. 59 centers of them (64.83%) were established between 2010 and 2020; patients of 63 centers (69.23%) have been treated with ketogenic therapy for status epilepticus (SE), among which only 9 centers (14.29%) have 5 or more epileptic patients on averge per month. 35 centers (38.46%) are offering ketogenic diet treatment for indications other than epilepsy. The main diseases are autism spectrum disorder, encephalitis, febrile infection related epilepsy syndrome (FIRES), rare diseases and glycolipid metabolic diseases. All ketogenic diet treatment centers are equipped with high-quality professionals, mainly neurologists and pediatric physicians; There are significant differences in regional distribution, with centers in the eastern region accounting for more than half (53.85%). ConclusionsThe development of ketogenic diet therapy in China has achieved initial results, but there are still some problems such as small number of patients treated and uneven geographical distribution.
ObjectiveTuberous sclerosis complex (TSC) is a multisystem disease, which often manifests as refractory epilepsy in the nervous system and multifocality in Magnetic resonance imaging (MRI). We summarized patients with TSC whose peripheral blood gene test was negative,and analyzed their medical history, EEG, MRI and postoperative conditions. MethodsWe summarized and analyzed 205 patients with TSC diagnosed clinically and pathologically and underwent surgery from April 2008 to February 2024. 11 patients with TSC whose peripheral blood gene test was negative and underwent surgery were screened out.All patients underwent gene examination, MRI and long-range video EEG monitoring. All patients underwent detailed preoperative evaluation and direct resection surgery, intracranial electrode thermocoagulation surgery or laser surgery. ResultsOf the 11 patients with peripheral blood gene test negative, 11 (100%) patients achieved Engel Ⅰ within 1 year after surgery, and 10 (91%) patients achieved Engel Ⅰwithin 2 years. The median age of onset of 11 patients was 6 months, and 8 patients (73%) had onset less than 1 year old. All patients had multiple nodules in the brain. Except for the brain, the changes of the other organs were polycystic kidney and skin changes in 2 patients, skin changes in 8 patients, and normal in 1 patients. ConclusionTSC patients with peripheral blood gene negative who have young onset age, frequent seizures, and multiple nodules on MRI often present with refractory epilepsy. However, the postoperative effect is good, and the postoperative EEG of most patients is normal.
ObjectivesTo conduct a bibliometric analysis to research the status of disease burden domestically and overseas so as to understand the status of diseases burden, and to provide scientific and reasonable reference for health disease prevention, control strategies formulation and future research.MethodsPubMed, Web of Science, EMbase, The Cochrane Library, WanFang Data, CBM and CNKI databases were electronically searched to collect literature on disease burden from inception to October, 2018. Two reviewers independently screened literature and extracted data. EndNote X7 software was used for literature management, Excel 2016 software and VOS viewer software were also used to analyze data. Literature was classified by the aspects of literature publication characteristics, diseases, background areas, influencing factors, evaluation indicators and poverty caused by illness.ResultsA total of 325 studies were included in the bibliometric analysis. 41 articles (12.6%) were published in journals indexed by SCIE; original research evidence accounted for 97.0% (315 articles); 272 articles were from China (83.7%). The main diseases involved were malignant tumors (58 articles, 17.8%), diabetes (29 articles, 8.9%) and hypertension (24 articles, 7.4%). Factors affecting the disease burden primarily included hospitalization days (9 articles, 2.8%), complications (5 articles, 1.5%), delays in treatment (5 articles, 1.5%), and economic income (4 articles, 1.2%). Sixity-one articles (18.8%) reported poverty due to illness, and related diseases were chronic obstructive pulmonary disease (12 articles, 3.7%), hypertension (10 articles, 3.1%), diabetes (10 articles, 3.1%), malignant tumors (9 articles, 2.8%) and hepatitis B (6 articles, 1.8%).ConclusionsAt present, the disease burden research are focusing more on the burden of chronic non-communicable diseases such as malignant tumors, hypertension, diabetes, cardiovascular and cerebrovascular diseases in developing countries and regions. Medical costs vary from different diseases and treatment, different demographic characteristics of patients, and the coverage medical security of different population are the primary reasons for the " expensive in medical treatment” of current residents and the heavy burden of disease. DALY and total direct medical expenses are the main evaluation indexes of epidemiological burden and economic burden of disease, respectively. Future researches should focus on strengthening the scientific nature of study design to improve the quality of research, as well as paying more attention to diseases and aspects that are rarely involved, such as major diseases caused by poverty due to illness, comprehensive analysis of multiple diseases and aspects of health investment measurement, and comprehensively use the evaluation indicators of disease burden to strengthen the research on the comparability index of disease economic burden.
Background To summarize the genetic characteristics of GATOR1 complex gene mutations and the surgical prognosis of patients with refractory epilepsy. Methods A retrospective analysis was conducted on 16 patients with GATOR1 complex gene mutations who presented with mainly refractory epilepsy and underwent surgical treatment at the Epilepsy Center of Tsinghua University Yuquan Hospital from May 2019 to August 2024. The follow-up period ranged from 0.5 to 4.0 years. The genetic characteristics, clinical data, treatment, and prognosis of the patients were analyzed. Results Among the 16 patients, 9 were male and 7 were female, with an onset age ranging from 0.6 to 9.4 years, and seizure frequency ranging from once a day to dozens of times a day. Twelve patients (75.0%) had no seizures after surgery, and three of them had completely stopped taking medication. EEG were focal or multifocal, and all clinical seizures were monitored. Two patients had negative MRI. Among the 16 patients, there were 8 with DEPDC5 gene mutations, 5 with NPRL3 gene mutations, and 3 with NPRL2 gene mutations. Conclusions Patients with refractory epilepsy related to GATOR1 complex gene mutations are good surgical candidates, with a high rate of no seizures after surgery. For confirmed patients, surgical treatment should be considered.