RESUMO
Objective To observe changes of serum neuron specific enolase (NSE) level in children patients with epilepsy by additional use of ilepcimide (piperine derivative). Methods Totally 107 epilepsy children patients were assigned to the test group (77 cases) and the control group (30 cases) ac- cording to random digit table. Children patients in the control group received anti-epileptic Western drugs only. Those in the test group additionally took ilepcimide, 5 mg/kg per day as initial dose, taken in two times. The dose was gradually added to those without control of epilepsy attack. Added dose within a week should not exceed 10 mg/kg per day. The therapeutic course for all was one year. Electoencephalo- gram (EEG) was performed before treatment, half a year after treatment, and one year after treatment, respectively. Serum NSE level was detected using electrochemiluminescence. Efficacy was assessed after 1-year treatment. Results The total effective rate was 65. 0% (50177) in the test group, with statistical difference as compared with that in the control group [30. 0% (9/30), P <0. 01 ]. Compared with before treatment, serum NES-level obviously decreased in the test group after 0. 5-year treatment and 1- year treatment respectively (P <0. 05, P <0. 01). Besides, serum NES level was lower after 1-year treatment than after 0. 5-year treatment (P <0. 05, P <0. 01). There was no statistical difference in serum NES level between the test group and the control group at each time point (P >0. 05). Results of EEG were obviously superior in the test group (3 with normal range EEG, 5 critically abnormal EEG, 69 abnormal EEG) to the control group (2 with normal range EEG and 75 abnormal EEG) after 1-year treatment, with statistical difference (Z= -2. 33, P <0. 05). There was no statistical difference in EEG results of the control group between before treatment (all abnormal EEG) and after 1-year treatment (3 critically abnormal EEG and 27 abnormal EEG) (Z = -1. 732, P > 0. 05). Conclusion Adding ilepcimide (piperine derivative) for epilepsy children patients could lower serum NSE level and the frequency of seizures, and improve results of EEG.
Assuntos
Medicamentos de Ervas Chinesas , Epilepsia , Fosfopiruvato Hidratase , Piperidinas , Criança , Eletroencefalografia , Epilepsia/tratamento farmacológico , Humanos , Fosfopiruvato Hidratase/sangue , Fosfopiruvato Hidratase/efeitos dos fármacos , Piperidinas/farmacologia , ConvulsõesRESUMO
The aim of this study was to understand the relationship between IQ and glucose metabolism in brain cells in a wide variety of subjects with epilepsy. The study participants were 78 children with epilepsy and 15 healthy children for comparison. All participants were administered the Chinese Wechsler Intelligence Scale for Children (C-WISC). The verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ), and full-scale intelligence quotient (FIQ) were compared between children with epilepsy and typically developing children. Seventy-eight patients underwent interictal positron emission computed tomography (PET) using 2-deoxy-2[(18)F]fluoro-d-glucose (FDG) as the tracer for evaluating brain glucose metabolism. Verbal intelligence quotient, PIQ, and FIQ based on the C-WISC were significantly lower in children with epilepsy than those in the healthy comparison group (P<0.001, P=0.001, and P<0.001, respectively). The IQ of patients with normal metabolism, unifocal abnormal hypometabolism, and multifocal abnormal hypometabolism determined by PET differed significantly. The extent of the abnormal hypometabolism was negatively correlated with the FIQ (rs=-0.549, P<0.001). In patients with lateralized hypometabolism based on PET, the VIQ/PIQ discrepancy scores (|VIQ-PIQ|≥15 points) differed significantly between the left hemisphere abnormal hypometabolism and right hemisphere abnormal hypometabolism subgroups, with negative values in the left and positive values in the right subgroups (P=0.004). In conclusion, brain metabolic abnormalities are correlated with IQ, and performing interictal PET along with C-WISC can better assess the extent of severity of cognitive impairment and VIQ/PIQ discrepancy.
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Córtex Cerebral/metabolismo , Transtornos Cognitivos/etiologia , Epilepsia/complicações , Epilepsia/patologia , Inteligência/fisiologia , Adolescente , Análise de Variância , Córtex Cerebral/diagnóstico por imagem , Criança , Epilepsia/diagnóstico por imagem , Feminino , Fluordesoxiglucose F18 , Lateralidade Funcional/fisiologia , Humanos , Testes de Inteligência , Masculino , Tomografia por Emissão de Pósitrons , Estatística como AssuntoRESUMO
OBJECTIVES: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by epilepsy. This study aimed to explore the relationship between DYNC1H1 variants and epilepsy. MATERIALS AND METHODS: Trios-based whole-exome sequencing was performed on patients with epilepsy. Previously reported epilepsy-related DYNC1H1 variants were systematically reviewed to analyse genotype-phenotype correlation. RESULTS: The DYNC1H1 variants were identified in four unrelated cases of infant-onset epilepsy, including two de novo and two biallelic variants. Two patients harbouring de novo missense variants located in the stem and stalk domains presented with refractory epilepsies, whereas two patients harbouring biallelic variants located in the regions between functional domains had mild epilepsy with infrequent focal seizures and favourable outcomes. One patient presented with pachygyria and neurodevelopmental abnormalities, and the other three patients presented with normal development. These variants have no or low frequencies in the Genome Aggregation Database. All the missense variants were predicted to be damaging using silico tools. Previously reported epilepsy-related variants were monoallelic variants, mainly de novo missense variants, and all the patients presented with severe epileptic phenotypes or developmental delay and malformations of cortical development. Epilepsy-related variants were clustered in the dimerization and stalk domains, and generalized epilepsy-associated variants were distributed in the stem domain. CONCLUSION: This study suggested that DYNC1H1 variants are potentially associated with infant-onset epilepsy without neurodevelopmental disorders, expanding the phenotypic spectrum of DYNC1H1. The genotype-phenotype correlation helps to understand the underlying mechanisms of phenotypic variation.
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Epilepsia Generalizada , Epilepsia , Transtornos do Neurodesenvolvimento , Lactente , Humanos , Mutação , Epilepsia/genética , Transtornos do Neurodesenvolvimento/genética , Mutação de Sentido Incorreto , Fenótipo , Dineínas do Citoplasma/genéticaRESUMO
Patients with glycogen storage disease type Ib (GSD-Ib) frequently have inflammatory bowel disease (IBD). however, the underlying etiology remains unclear. Herein, this study finds that digestive symptoms are commonly observed in patients with GSD-Ib, presenting as single or multiple scattered deep round ulcers, inflammatory pseudo-polyps, obstructions, and strictures, which differ substantially from those in typical IBD. Distinct microbiota profiling and single-cell clustering of colonic mucosae in patients with GSD are conducted. Heterogeneous oral pathogenic enteric outgrowth induced by GSD is a potent inducer of gut microbiota immaturity and colonic macrophage accumulation. Specifically, a unique population of macrophages with high CCL4L2 expression is identified in response to pathogenic bacteria in the intestine. Hyper-activation of the CCL4L2-VSIR axis leads to increased expression of AGR2 and ZG16 in epithelial cells, which mediates the unique progression of IBD in GSD-Ib. Collectively, the microbiota-driven pathomechanism of IBD is demonstrated in GSD-Ib and revealed the active role of the CCL4L2-VSIR axis in the interaction between the microbiota and colonic mucosal immunity. Thus, targeting gut dysbiosis and/or the CCL4L2-VISR axis may represent a potential therapy for GSD-associated IBD.
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Disbiose , Microbioma Gastrointestinal , Doenças Inflamatórias Intestinais , Doenças Inflamatórias Intestinais/metabolismo , Doenças Inflamatórias Intestinais/microbiologia , Disbiose/metabolismo , Disbiose/microbiologia , Disbiose/imunologia , Humanos , Camundongos , Masculino , Feminino , Animais , Doença de Depósito de Glicogênio Tipo I/metabolismo , Doença de Depósito de Glicogênio Tipo I/genética , Doença de Depósito de Glicogênio Tipo I/complicações , Modelos Animais de Doenças , Mucosa Intestinal/metabolismo , Mucosa Intestinal/microbiologiaRESUMO
The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han population, including 11 individuals diagnosed with ADNFLE. DNA samples were collected from 15 family members, chinese han people, including seven affected and eight unaffected individuals. None of these patients had night blindness or visual disorders. Four affected individuals were screened for mutations using whole-exome sequencing, and 13 potentially interesting mutations shared by all the four affected individuals were validated using the Sanger sequencing method. Only one novel missense mutation c.464G>A (p.G155D) in the CABP4 gene, encoding the neuronal Ca2+-binding protein 4 (CaBP4), was present in all seven affected individuals in this family as revealed by PCR with blood DNA samples using CABP4 primers. The mutation was also found in one young unaffected family member, but was absent from 300 unrelated control subjects. The p.G155D mutation, located near the Ca2+ binding motif EF-hand 1 and the L-type Ca2+ channel (Cav1.4) binding motif within the N-terminal lobe of CaBP4, is predicted to affect protein function according to the bioinformatics tools PolyPhen-2 and SIFT. These findings suggest that mutations in the CABP4 gene may be linked to ADNFLE.