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find Keyword "生酮饮食" 32 results
  • DNM1基因变异所致发育性癫痫性脑病一例

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  • 丙酮酸脱氢酶 E1α 亚基基因突变所致 Leigh 综合征的临床进展

    Leigh 综合征(Leigh syndrome,LS)是一种罕见的致死性亚急性脑病,是儿童线粒体病的常见表型,核基因及线粒体基因上多种基因位点突变均可导致这一罕见病,其中丙酮酸脱氢酶 E1α 亚基(PDHA1)基因所致的 LS(PDH-LS)约占比 10%,主要临床表现为肌无力、共济失调、神经退行性障碍等,但却缺乏特异性。该疾病预后较差,目前尚无特异性治疗方案,早期诊断及干预有助于改善 PDH-LS 预后,除了传统的药物治疗及改善营养状态外,生酮饮食亦是一种有益的治疗选择,因此早期明确诊断及相关基因型改变具有重大意义。LS 临床表现多变且缺乏一致的特异性,为早期诊断治疗带来了挑战。文章讨论了 PDH-LS 的临床表现,并总结了文献报道的 PDH-LS 患者的表现及有预警意义的表现,以期提高其早期诊断率和相关的治疗建议,希望能够对此类患者的诊治有所帮助。

    Release date:2020-09-04 03:06 Export PDF Favorites Scan
  • 经典生酮饮食和改良阿特金斯饮食治疗儿童难治性癫痫的效果比较

    研究旨在比较改良阿特金斯饮食(Modified Atkins diet,MAD)和经典生酮饮食(Ketogenic diet,KD)在治疗儿童难治性癫痫的疗效、安全性和耐受性。研究纳入 2011 年 3 月—2014 年 3 月就诊的 1~18 岁难治性癫痫患者,将其随机分配至一种饮食治疗组(ClinicalTrials.gov,编号 NCT2100501)。痫性发作记录被用于比较饮食治疗后 3、6 个月痫性发作频率与饮食治疗前基线发作频率。研究纳入 KD 组 51 例患者,MAD 组 53 例患者。KD 组平均基线痫性发作百分比在治疗后 3 个月(KD 组 38.6%,MAD 组 47.9%)和 6 个月(KD 组 33.8%,MAD 组 44.6%)均低于 MAD 组,但差异无统计学意义[3 个月,95%CI (24.1,50.8),P=0.291;6 个月,95%CI(17.8,46.1),P=0.255]。然而,在<2 岁患儿中,KD 组痫性发作控制效果优于 MAD 组。这些患者饮食治疗开始的 3 个月内,KD 组癫痫无发作率高于 MAD 组,差异有统计学意义(KD 组 53%,MAD 组 20%,P=0.047)。MAD 组耐受性更好并且副反应更少。MAD 可能是治疗儿童难治性癫痫的首要选择,但经典 KD 更适合<2 岁患者的一线饮食治疗方案。

    Release date:2018-01-20 10:51 Export PDF Favorites Scan
  • 生酮饮食治疗RHOBTB2基因相关发育性癫痫性脑病一例并文献复习

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  • Efficacy of Wechat combined with continuing nursing on ketogenic diet children, parents and medical staff

    Objective To evaluate the efficacy of Wechat combined with continuing nursing on the quality of life of epilepsy children with ketogenic diet, parents' mood and the time commitment of medical staff. MethodsData were collected from 140 children with intractable epilepsy with ketogenic diet admitted to the Department of Neurology, Children's Hospital Affiliated to Chongqing Medical University from November 2014 to June 2022, including 116 males and 24 females, with an average age of (8.42±2.44) years. The random sampling method was divided into control group (continuing nursing) 71 cases, intervention group (Wechat combined with continuing nursing) 69 cases. The quality of life of the children (QOLCE-16) in the two groups was compared before discharge and 3 months after discharge, as well as parental anxiety (SAS), depression (SDS), and the amount of time medical staff spent with both groups. ResultsThere was no difference in the quality of life and parental emotion between the two groups before intervention. After 3 months, the quality of life of the two groups was significantly improved [(43.59±10.00) vs. (40.14±10.44), P<0.05], and the QOLCE-16 score of the intervention group was higher than that of the control group (P<0.05). The parental mood SAS and SDS in both groups were significantly improved [(37.19±2.90) vs. (50.85±3.76), (40.14±3.52) vs. (49.29±3.37), P<0.01], and the SAS and SDS scores of anxiety and depression of parents in the intervention group were lower than that of the control group (P<0.01). Medical staff spent more time on intervention group [(136.17±7.43) vs. (65.55±7.48), P<0.01]. ConclusionContinuing nursing can improve the quality of life of children with ketogenic diet and the negative emotions of their parents. The combination of Wechat and continuing nursing can further strengthen this positive effect, and requires more time of medical staff.

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  • Ketogenic diet in the treatment of 5 cases of febrile infection-related epilepsy syndrome and literature review

    ObjectiveAccording to the diagnosis and treatment analysis of 5 children with Febrile infection-related epilepsy syndrome (FIRES) and literature review, to explore the therapeutic effect of Ketogenic diet (KD).MethodsA retrospective analysis of the clinical status of 5 children with KD treatment of FIRES admitted to the Department of Pediatric Neurology, West China Second Hospital of Sichuan University from August 2016 to September 2019, combined with literature data, summarized their disease characteristics, prognosis and KD treatment effects.ResultsThe 5 cases of FIRES children were (5.8±2.0) years old and had a male to female ratio of 2∶3. They were all induced by fever followed by a status epilepticus that was difficult to control with drugs. The interval between fever and first seizure was 4 to 7 days, and the prodromal symptoms were higher respiratory tract infections, dizziness, vomiting, fatigue, listlessness, loss of appetite, etc., convulsions manifested as focal or focal secondary systemic or general seizures, EEG showed slowing background rhythm, changes in multifocal epileptic discharge, early course of disease The cranial imaging examination was basically normal. As the course of the disease progressed, changes in brain atrophy gradually appeared, and abnormal signal shadows were seen in the forehead, parietal, occipital lobe, and periventricular. A variety of anti-epileptic drugs, hormones, gamma globulin, plasma exchange and other treatments have poor therapeutic effects and severe cognitive impairment. The KD treatment started to take effect within 2 weeks, and the convulsions were reduced. One case was completely controlled, and the cognitive function basically returned to normal with only mild learning disabilities; the convulsions were reduced by more than 50% in 2 cases, leaving mild to moderate cognitive impairment, The other 2 cases had poor long-term treatment effects, left intractable seizures and severe mental retardation.ConclusionFIRES is a serious epileptic encephalopathy, most of which leave severe cognitive impairment and refractory seizures. Drug therapy and prognosis are poor. KD treatment is beneficial to control seizures in children with FIRES in the acute stage.

    Release date:2021-08-30 02:33 Export PDF Favorites Scan
  • The clinical analysis of ketogenic diet therapy in children with rapidly progressive Dravet syndrome

    ObjiectiveTo explore the efficacy and safety of ketogenic diet therapy (KDT) in the rapidly progressive stage of childhood developmental epileptic encephalopathy Dravet syndrome (DS). Methods The clinical data of all patients who added KDT in the Children’s Hospital of Fudan University from 2011 to 2022 were retrospectively collected, and the age of <6 years was used as the criterion for the rapid progression of the disease. The clinica data, genotype and the efficacy of KDT were analyzed in DS patients who met the criteria. Results A total of 32 patients met the criteria for rapid disease progress, including 22 males and 10 females. The age at onset was (5.69±2.10) months. All patients had multiple seizure phenotypes and monthly seizures despite reasonable Antiseizure medications treatment. After 3, 6, 12, and ≥24 months, 93.8% (30/32), 87.5% (28/32), 53.1% (17/32), 34.4% (11/32) remained on the KDT, while 76.7% (23/30), 75.0% (21/28), 70.6% (12/17), 54.5% (6/11) showed >50% reduction in seizure. Status epileptius (SE) was reduced by 100% at 3 months, 71.0% at 6 months, 86.0% at 12 months. After 12 months, 14 patients experienced efficacy degradation. After 3 months, the EEG background rhythm showed improvement in 75.0% patients, interictal epileptic discharges was decreased in 54.5% patients and cognitive function was improved in 78.6% patients. At the initial stage of KDT, 62.5% (20/32) patients had transisent adverse reactions, including diarrhea, vomiting, fatigue, lethargy, hypoglycemia, and metabolic acidosis, but no mid- and long-term adverse reactions were found. ConclusionKDT is an efficective and safe treatment for DS. KDT can effectively control seizures, reduce the incidence of Status SE and shorten the duration of SE. With the prolongation of the KDT course, some patients experienced a degraded effect. KDT can improve abnormal EEG and cognitive function in DS patients. Pharmoco-resistant DS patients are suggested to receive KDT in the early stage of disease progression.

    Release date:2023-01-04 02:32 Export PDF Favorites Scan
  • Progress in the study of correlation between gut microbes and epilepsy and its clinical application

    The correlation between gut microbes and epilepsy is a hot research topic. This review aims to summarize the effects of Ketogenic diet (KD) on gut microbes and the preclinical and clinical progress of the use of Fecal microbiota transplants (FMT) and Probiotics in the intervention of epilepsy to provide clinical reference. Gut microbes mediates the antiepileptic effect of KD. Many studies have found that bactericides decreased in epileptic patients, and KD can increase bactericides abundance, which may be one of its effective mechanisms. Both FMT and probiotics showed antiepileptic effects on epileptic model mice with different pathogenesis, suggesting that gut microbes is an important target for epilepsy treatment. Preliminary clinical studies of small samples suggest that the use of probiotics can effectively treat refractory epilepsy and autoimmune-associated epilepsy, and can improve comorbidities. No serious and long-term side effects of probiotics have been found in epileptic patients. In the future, more high-quality studies are needed to further clarify its efficacy and mechanisms, which could lead to new strategies for epilepsy treatment and refresh our understanding of the causes of epilepsy.

    Release date:2023-05-04 04:20 Export PDF Favorites Scan
  • The duration of epilepsy in sleep effect of progesterone diet on epilepsy syndrome in sleep and recurrent epilepsy syndrome and EEG changes

    ObjectiveTo analyze the efficacy of ketogenic diet (KD) in the treatment of epilepsy syndrome associated with Electrical status epilepticus during sleep (ESES) and the changes of electroencephalogram (EEG). MethodsThe clinical data of 58 children with ESES-related epilepsy syndrome and cognitive impairment admitted to the outpatient and inpatient department of Xuzhou Children’s Hospital from March 2020 to June 2022 were collected. They were divided into observation group (group A) and control group (group B) by random number table method, with 29 cases in each group. On the basis of not changing the original anti-seizure drugs, group A was treated with ketogenic diet, and group B was treated with hormone. The clinical efficacy, cognitive function and Spike-wave index (SWI) of children with ESES-related epilepsy syndrome were observed before and 3 and 6 months after ketogenic diet and hormone treatment. Results The total clinical effective rate and control rate of group A after 3 months of treatment; The total effective rate and significant efficiency of EEG and the verbal quotient, operation quotient and total intelligence quotient of Wechsler Intelligence Scale for children were significantly lower than those of group B, and the differences were statistically significant (P<0.05). However, the total clinical effective rate and control rate of group A after 6 months of treatment; The total effective rate and significant efficiency of electroencephalogram and the verbal quotient, operation quotient and total intelligence quotient measured by Wechsler Intelligence Scale for children were similar to those of group B, and the difference was not statistically significant (P>0.05). There were no cases of EEG SWI and recurrent clinical symptoms in group A during the follow-up period; In group B, the recurrence rate of EEG SWI was 55.2%, and the recurrence rate of clinical symptoms was 37.9% after 6 months of treatment. There were no serious adverse reactions in the two groups during the treatment period. In group A, about 27.6% (8 cases) of the children had gastrointestinal symptoms, but they were mild and quickly relieved, and no serious adverse reactions occurred in the maintenance period. However, 89.7% (26 cases) of the children in group B showed different degrees of weight gain, and 69% (20 cases) of them showed kexing features such as full moon face and buffalo back. ConclusionsKetogenic diet can improve the curative effect and EEG changes of children with ESES related epilepsy syndrome, and improve their cognition. Compared with hormone pulse therapy, the recurrence rate of ESES related epilepsy syndrome in the treatment of ketogenic diet is lower, and the incidence of adverse reactions is relatively mild and low.

    Release date:2023-10-25 09:09 Export PDF Favorites Scan
  • Clinical efficacy and benefit-risk network Meta-analysis of ketogenic diet in the treatment of refractory epilepsy in children

    ObjectiveAnalyze and compare the differences in the efficacy and adverse reactions of various ketogenic diet (KD) in the treatment of refractory epilepsy in children.MethodsSystematic search of electronic databases, including PubMed, Embase, Ovid MEDLINE, Web of Science and the Central Register of Cochrane Controlled Trials, published in English January 2000 Relevant research from January to August 2020. Results: Finally, 11 articles were included and 781 cases were included. Meta-analysis (NMA) method was used to compare 6 classic ketogenic diets (Classic ketogenic diet, CKD), Gradual ketogenic diet initiation (GRAD-KD), and the first modified Atkins diet of 20 g carbohydrates/d (Initial 20 g of carbohydrate/day of modified Atkins diet, IMAD), modified Atkins diet (MAD), low glycemic index diet (LGID) and medium-chain fatty acid diet (Medium-chain triglyceride diet, MCT) Therapeutic effect and adverse reactions of 3, 6, and 12 months.ResultsFrom the results of the direct comparative analysis, CKD and MAD showed superior clinical efficacy in 50% seizure reduction at 3 months to CAU, and the difference was statistically significant [OR=10.58, 95%CI (3.47, 32.40), P<0.05; OR=11.31, 95%CI (5.04, 25.38), P<0.05]; the clinical efficacy of 90% seizure reduction at 3 months for MAD was superior to that of CAU with statistical significance [OR=4.95, 95%CI (1.90, 12.88), P<0.05]. The results of further network meta-analysis suggested that for the comparison of 50% seizure reduction at 3 months, IMAD, GRAD-KD, CKD, MAD, and MCT were superior to CAU, and the difference was statistically significant [OR=0.03; 95%CI (0.00, 0.30), P<0.05; OR=0.07; 95%CI (0.01, 0.76), P<0.05; OR=0.11; 95%CI (0.03, 0.35), P<0.05; OR=0.11; 95%CI (0.04, 0.35), P<0.05; OR=0.13; 95%CI (0.03, 0.67), P<0.05; OR=0.11; 95%CI (0.03, 0.35), P<0.05; OR=0.11; 95%CI (0.04, 0.35), P<0.05]. For the comparison of 90% seizure reduction at 3 months, CKD, GRAD-CK, IMAD, MAD, and MCT were superior to CAU, and the differences were statistically significant [OR=0.05; 95%CI (0.00, 0.31), P<0.05; OR=0.22; 95%CI (0.00, 0.39), P<0.05; OR=0.03; 95%CI (0.00, 0.62), P<0.05; OR=0.12; 95%CI (0.01, 0.60), P<0.05; OR=0.09; 95%CI (0.00, 0.91), P<0.05]. It is suggested in the cumulative probability plot that: the optimal clinical regimen for 50% seizure reduction at 3 months was IMAD (Rank1=0.91), the optimal clinical regimen for 50% seizure reduction at 6 months was CKD (Rank1=0.40), the optimal clinical regimen for 50% seizure reduction at 12 months was MCT (Rank1=0.64); the optimal clinical regimen for 90% seizure reduction at 3 months was IMAD (Rank1=0.94), the optimal clinical regimen for 90% seizure reduction at 6 months was LGIT (Rank1=0.44), and the optimal clinical regimen for 90% seizure reduction at 12 months was MCT (Rank1=0.41); the optimal clinical regimen for seizure reduction at 3 months was GRAD-CK (Rank1=0.46), the optimal clinical regimen for seizure reduction at 6 months was LGIT (Rank1=0.58), and the optimal clinical regimen for seizure reduction at 12 months was CKD (Rank1=0.56). It is suggested in the benefit-risk assessment that among the three KDs (CKD, MAD, MCT) with better 50% and 90% seizure reduction at 3 months and 6 months, combining with the incidence of adverse reactions, CKD was the optimal treatment regimen (CF=0.47, CF=0.86); among the two KDs (CKD, MAD) with better seizure reduction at 3 months and 6 months, combining with the incidence of adverse reactions, CKD was the optimal treatment regimen (CF=0.45); among the two KDs (CKD, MCT) with better 50% and 90% seizure reduction at 12 months, combining with the incidence of adverse reactions, CKD was the optimal treatment regimen (CF=0.65).ConclusionsIn this study, IMAD showed the optimal clinical efficacy at 3 months and MCT at 12 months. With stable efficacy and low incidence of adverse reactions in 12 months, CKD was the optimal treatment regimen for children with refractory epilepsy after the comprehensive evaluation.

    Release date:2021-06-24 01:24 Export PDF Favorites Scan
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