Application of lacosamide in sodium channel-related epilepsy in young infants / 中华神经科杂志

Objective:To report 2 young infants of sodium channel related epilepsy with SCN2A gene mutation, and to discuss the clinical characteristics of the disease and the efficacy and safety of lacosamide combined with the literature.Methods:Corresponding information of 2 children hospitalized in the Department of Neurology of Hunan Children′s Hospital in July 2021 and October 2021 was collected, including the symptoms, comprehensive physical examination, blood, cerebrospinal fluid, imaging, electrophysiological examination, diagnosis and treatment process, response to treatment and other clinical data, as well as the sequencing results of the whole exome of the children. The efficacy and safety of lacosamide were analyzed, and the related literatures of the Biomedical Literature Database, Wanfang Data Knowledge Service Platform and Chinese Knowledge Infrastructure Database were searched and reviewed.Results:Both of the 2 cases were girl. Their onset age was within 3 months. The initial symptoms were frequent convulsions and backward development. There was no structural abnormality in the head image. The convulsions could not be controlled according to conventional multidrug treatment. The seizures were quickly controlled with lacosamide. Now they have been followed up for 6 months. No obvious adverse reactions were found. Case 1 gene test results showed the SCN2A gene (chr2:166152333-166246334) heterozygous deletion, SCN1A gene (chr2:166847754-16693013) heterozygous deletion, the deletion size being about 5.72 Mb. Case 2 gene test results showed new missense mutation of SCN2A (c.1285G>A, p.Glu429Lys). There were dozens of seizures every day. They were treated with valproic acid, oxcarbazepine and levetiracetam successively. The seizures could not be controlled. Three focal seizures originated in the left temporal region were detected by electroencephalogram. There was no recurrence on the third day after adding lacosamide, and there was no attack after 5 months of follow-up. No obvious adverse reactions were found during follow-up.Conclusions:Sodium channel related epileptic encephalopathy often starts early, has frequent seizures, and can be accompanied by backward psychomotor development at the same time. The slow sodium channel blocker lacosamide has good efficacy and safety in the treatment of sodium channel-related epilepsy with SCN2A gene mutation or combined SCN1A gene mutation.

Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene / 中华医学遗传学杂志

OBJECTIVE@#To report on the clinical, metabolic and genetic characteristics of a child with carnitine palmitoyl transferase 1A (CPT1A) deficiency.@*METHODS@#Clinical data and the level of acylcarnitine for a child who initially presented as epilepsy were analyzed. Genomic DNA was extracted from peripheral blood samples of the child and her parents and subjected to next-generation sequencing (NGS).@*RESULTS@#Mass spectrometry of blood acylcarnitine indicated increased carnitine 0 (C0) and significantly increased C0/ (C16+C18). DNA sequencing revealed that the child has carried compound heterozygous variants of the CPT1A gene, namely c.1846G>A and c.2201T>C, which were respectively inherited from her mother and father.@*CONCLUSION@#CPT1A presenting initially as epilepsy was unreported previously. Analysis of blood acylcarnitine C0 and C0/ (C16 + C18) ratio and NGS are necessary for the identification and diagnosis of CPT1A deficiency. The c.1846G>A and c.2201T>C variants of the CPT1A gene probably underlay the disease in this child. Above finding has also enriched the spectrum of CPT1A gene variants.

The clinical efficacy and follow-up study of ketogenic diet adding treatment for refractor epilepsy in children / 中国医师杂志

Objective To study the clinical efficacy and follow-up study of ketogenic diet adding treatment for refractor epilepsy in children.Methods Cluster sampling method was employed to select children in children's hospital from January 2015 to June 2017,a total of 25 cases were diagnosed refractor epilepsy and adding ketogenic diet.Engel grade was used to evaluate the efficiency,the side effects,electroencephalogram (EEG) changes and intellectual development at 3 months,3-6 months,and more than 6 months.Results The effective rate of epileptic seizure control was 0,66.7％ and 87.5％ at 3 months,3 -6 months and ＞ 6 months respectively.The improvement rate of EEG discharge index was 33.3％,50％ and 81.3％ respectively.The improvement of intelligence development was 33.3％,50％ and 68.8％ respectively.Gastrointestinal disturbances were the main side effects.Severe side effect occurred in two cases--they had severe food refusal and were stopped the ketogenic diet adding treament.Conclusions The ketogenic diet is effective,safe,few side effects and tolerable in infants and children with refractory epilepsy.The ketogenic diet may improve cognition and behavior in addition to reducing seizure frequency,the interical epileptiform discharges (IED) index and improve the quality of life of epileptic children.However,the acceptance of ketogenic diet therapy for children is not satisfactory.The sample size is small and needs further promotion.While large samples and long-term observations are still desired to better recipes,and to provide possibly effective altemative to other therapies for refractor epilepsy.

The clinical value of pentraxin3 in community-acquired pneumonia of children / 中国小儿急救医学

Objective To investigate the clinical value of pentraxins 3 ( PTX3) in children's com-munity-acquired pneumonia ( CAP ). Methods We collected 122 inpatients diagnosed with CAP from Department of Respiratory Medicine and Intensive Care Unit ( ICU) of Hunan Children's Hospital from March 2016 to January 2017,whose ages were between 28 days and 18 years old. We collected 20 healthy subjects as control group. According to the severity of illness,122 inpatients were divided into mild group and severe group. According to respiratory failure or not,122 inpatients were divided into the respiratory failure group and the non-respiratory failure group. According to the optimal thresholds of PTX3 in the study on respir-atory failure,122 inpatients were divided into group A (≤165. 30 ng/ml) and group B (>165. 30 ng/ml). Results (1) There was significant difference in the PTX3 level within 24 h after admission of patients among mild group, severe group and control group [72. 56 (96. 02) ng/ml,211. 00 ( 110. 72 ) ng/ml,9. 45 (3. 29) ng/ml,H＝87. 99,P<0. 001]. The PTX3 level of patients with respiratory failure was higher than non-respiratory failure group and the difference was statistically significant[225. 60(189. 56)ng/ml,138. 49 (144. 40) ng/ml,U ＝494. 00,P <0. 001]. (2) Receiver Operating Characteristic analysis with TNF-α, CRP,PCT and PTX3 showed that the area under the curve of PTX3 was largest in diagnosis of respiratory failure. The top three of accuracy were PTX3,PCT and TNF-α respectively to diagnose the severe pneumonia with respiratory failure. The sensitivity and specificity were 0. 826 and 0. 657,0. 783 and 0. 566,0. 730 and 0. 586,respectively. ( 3 ) The correlation analysis between PTX3 and other inflammatory biomarkers and clinic opathological features of patients with CAP showed that TNF-α,PCT were positively correlated with PTX3 level,the correlation coefficients were 0. 59,0. 18 respectively. PTX3 level was positively correlated with respiratory frequency (r＝0. 388),and negatively correlated with pulse oximetry ( r ＝ －0. 251) and PaO2(r＝ －0. 316). The D-dimer level of PTX3 severe group (group B) was higher than that of the mild group (P＝0. 022). There was a positive correlation between the PTX3 level and the D-dimer line ( r ＝0. 228,P＝0. 012). (4) Dynamic observation of PTX3 level in children with CAP:PTX3 level [M(IQR), ng/ml] was highest at 24 h after hospital admission,equaling to 152. 55(152. 22); PTX3 equaled to 89. 12 (111. 44) after 3 days'treatment; and decreased to 47. 26(68. 51) after 7 days'treatment,and the difference among these time points were statistically significant(P<0. 01). The difference of PTX3 level between mild group and severe group in distinct time points(less 24 h,3 days and 7 days after hospital admission) was also statistically significant(P<0. 001). Conclusion The level of serum PTX3 in children with CAP was posi-tively correlated with TNF-α,PCT and D-dimer. Serum PTX3 is a potential new biomarker to revel the sever-ity of community-acquired pneumonia of children.

Study on the infection status of human parvovirus B19 among unpaid blood donors in Chongqing / 重庆医学

Objective To provide basic datas for enriching the scientific and reasonable security strategy of blood transfusion in Chongqing ,even for the national use in the future ,we studied the infection status of human parvovirus B19(B19V) among unpaid blood donors and evaluated the prevalence of B19V in Chongqing .Methods B19 IgM and B19 IgG antibody from blood donors were detected by the method of enzyme linked immunosorbent assay .Results Among 1 104 blood samples of blood donors ,the positive rate of B19 IgM was 5 .07% ,and the positive rate of B19 IgG was 36 .68% ,there was a significant difference between them(P 0 .05) .Comparing with various age groups ,There was still no significant difference of the positive rate of B19 IgM among them(P>0 .05) ,but the positive rates of B19 IgG increased with age increasing (P0 .05) .And there was no significant difference for positive rate of B19 IgM between positive samples and negative sam‐ples of HBV ,HCV ,HIV ,the results of B19 IgG also were such(P> 0 .05) .Conclusion Among blood donors in Chongqing ,al‐though there was no screening for B19V ,we still found infections by B19V .So this may illustrated that the risk of blood transfusion by B19V was still existed .

Factors predicting the risk of seizure relapse after antiepilepsy drug withdrawal in childhood epilepsy / 中华实用儿科临床杂志

Objective To investigate the factors associated with seizure relapse after antiepilepsy drug (AED) withdrawal in childhood epilepsy.Methods A retrospective analysis was conducted in epileptic children of Hunan Children's Hospital from Jan.2003 to Jan.2011.Among those with anti-epileptic therapy for seizure-free period over 2 years,the patients who relapsed after withdrawal were followed up through outpatient clinic visits and/or by telephone interviews for at least 2 years.Results Of the 127 cases of children enrolled in this study,28 patients(22.05％) relapsed [male:12/59 cases (20.34％) and female:16/68 cases (23.53％)].Cumulative relapse rates were 18.18％ (8/44 cases) in infancy,15.79％ (6/38 cases) in toddlers,23.53％ (8/34 cases) in preschool children,and 54.55％ (6/11 cases)in school age group.Of the patients who relapsed,generalized seizure occurred in 12/87 cases (13.79％),partial seizure in 16/40 cases(40.00％).According to seizure frequency between the first seizure and AED administration,3 cases(6.25％) relapsed among 48 cases of seizure frequency ＜ 5 times,13 cases(24.07％) relapsed among 54 cases of seizure frequency 5 to 10 times,and 12 cases(48.00％) relapsed among 25 cases of seizure frequency more than 10 times.Relapse occurred in 9 cases of monotherapy(9/91 cases,9.89％) and in 19 cases of polytherapy (19/36 cases,52.78％).According to the seizure control period (period between the beginning of antiepileptic treatment and AED withdrawal),14 cases relapsed among 37 cases with the seizure control period of 2 to 3 years (37.84％),8 cases relapsed among 51 cases with the period of 3 to 4 years (15.69％),and 6 cases relapsed among 39 cases with the period of 4 to 5 years(15.38％).According to AED tapering off period,10 cases relapsed among 24 cases with the period of 3 months (41.67％),9 cases relapsed among 36 cases with the period of 3-6 mc ths (25.00％),and 9 cases relapsed among 67 cases with the period of over 6 months(13.43％).Factors associated with an increased risk of relapse were age of epilepsy onset,seizure type,route of administration,timing of antiepileptic trug withdrawal,tapering speed,which were had statistical significance (x =8.051,6.780,16.896,27.607,7.576,8.451,all P ＜0.05).Gender difference was not associated with the risk of relapse(x2 =0.187,P ＞ 0.05).Conclusions Factors associated with an increased risk of relapse are age of epilepsy onset,seizure type,route of administration,timing of antiepileptic drug withdrawal,tapering speed.Standard therapies of early treatment,adherence to medication for at least 3 years,taper period for more than 6 months are associated with a decreased probability for relapse.

Changes of Caveolin-1, IL-1β, VEGF in cerebrospinal fluid of children with viral encephalitis and their clinical significance / 国际儿科学杂志

Objective To detect the disparity of three biological molecules Caveolin-1,IL-1β,VEGF in cerebrospinal fluid of children with viral encephalitis at the different stages; to explore the role of Caveolin-1,IL-1β,VEGF in the pathogenesis of viral encephalitis;and to evaluate their clinical significance in assessing the severity and prognosis of viral encephalitis.Methods We recruited 65 inpatients children with viral encephalitis in the Second Neurology Department of Hunan Children's Hospital from July 2011 to July 2012.Subjects were divided into 2 groups:54 cases of acute phase and 11 cases of recovery phase.According to the clinical manifestations,they were re-divided into 40 patients with mild viral encephalitis and 25 cases of severe viral encephalitis.Twenty healthy age matched controls (10 cases of epilepsy and 10 cases of congenital abnormality) were also taken for the study.Cerebrospinal fluid exam,EEG,head MRI and other tests were performed in all patients.Caveolin-1,IL-1β and VEGF levels in cerebrospinal fluid of 65 children with viral encephalitis and 20 age-matched controls were measured using ELISA.Results Cerebrospinal fluid Caveolin-1,IL-1β,VEGF levels in the acute phase of viral encephalitis were (49.209 ± 22.320) pg/ml,(16.923 ± 6.823) ng/ml,(44.342 ± 19.264) ng/ml respectively,and (33.253 ± 20.349)pg/ml,(11.724 ± 3.009)ng/ml,(30.312 ± 18.147) ng/ml in recovery phase,which were significantly higher than those of controls (P ＜0.01).The difference was statistically significant between acute phase and recovery phase (P ＜ 0.05).Acute viral encephalitis patients had higher Caveolin-l,IL-1β,VEGF levels than the epilepsy group,and the difference was statistically significant (P ＜ 0.05).In viral encephalitis group,children with cerebrospinal fluid protein content (0.5 ～ 1.0 g / L) had higher of Caveolin-1,IL-1β and VEGF levels as compared with those with cerebrospinal fluid protein content ≤ 0.5 g/L,and the difference was statistically significant (P ＜ 0.01).Cerebrospinal fluid Caveolin-1,IL-1 β and VEGF showed no significant difference among children with different severity of encephalitis,different levels of frequent seizures,different degrees EEG changes (P ＞ 0.05).But in the patients with severe head MRI changes,cerebrospinal fluid Caveolin-1,IL-1β,VEGF levels increased significantly (P ＜ 0.05).Conclusions Caveolin-1,IL-1β and VEGF may participate in the pathogenesis of viral encephalitis.Detection of these parameters may be helpful to the evaluation of the severity and prognosis of viral encephalitis.

Study on HLA-A,B,DRB1 high-resolution alleles polymorphism in Chongqing Han population / 重庆医学

Objective To analyze the HLA-A ,B and DRB1 alleles high-resolution polymorphism in Chongqing Han population . Methods The PCR-SSOP and PCR-SBT methods were applied for the HLA high-resolution genotyping of 2 067 unrelated healthy donors in the registry of Chongqing branch of Chinese National Marrow Donor Program (CMDP) .The allele frequencies of HLA-A , B and DRB1 were estimated by the direct counting method and the Hardy-Weinberg equilibrium inspection was performed by using the Arlequin software 3 .1 .Results 168 high-resolution alleles were detected out ,in which 42 alleles of A*11 :01 ,A*24:02 ,A*02:07 ,A*02 :01 and A*33:03 at the HLA-A locus were observed with the frequencies greater than 0 .05 ;81 alleles were detected at HLA-B locus ,including B*46 :01 ,B*40:01 ,B*58 :01 ,B*13 :01 and B*15 :02 with the frequencies greater than 0 .05 ;45 al-leles of DRB1*09:01 ,DRB1*15 :01 ,DRB1*12 :02 ,DRB1*08 :03 and DRB1*11 :01 at the HLA-DR locus were observed with the frequencies greater than 0 .05 .Conclusion The data of the HLA-A ,B and DRB1allelic frequencies at high-resolution level in Chongqing Han population are obtained ,which provides the reliable reference data for the studies of anthropology ,forensic medi-cine ,transplantation matching and disease association .

Clinical analysis of purulent meningitis caused by streptococcus pneumoniae in 12 children / 中国小儿急救医学

Objective To investigate the clinical characteristics of purulent meningitis caused by streptococcus pneumoniae.Methods We studied clinical features of 12 children with purulent meningitis caused by streptococcus pneumoniae who were hospitalized from Jan 2007 to Oct 2011 in our hospital.Results Twelve children were penicillin-resistant streptococcus pneumoniae.The ages ranged from 2 months to 10 years.Nine cases(75％) were aged less than 5 years,and 5 cases(41.6％) were aged less than 2 years.All cases were with fever,and with the nervous system symptoms involvement.All cases were with complications:9 cases(75％) with septicemia,8 cases (66.7％) with pneumonia.The white blood cells,blood C-reactive protein,peripheral blood procalcitonin,erythrocyte sedimentation rate,white cells and protein in cerebrospinal fluid were mostly significantly high,sugar in cerebrospinal fluid were low significantly.Eleven cases were eventually treatmented by vancomycin plus 3rd to 4rd generations of cephalosporins antibiotics or other antibiotics.Eight cases were cured,2 cases with serious sequela,and 2 cases died.Conclusion We should attach importance to the meningitis caused by streptococcus pneumoniae.For clinical suspects pneumonia streptococcus meningitis,to given the powerful therapy by vancomycin plus the other antibiotics,as early as possible.