Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases / 中国当代儿科杂志

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by SLC7A7 gene mutation and often involves severe lesions in multiple systems. Lung involvement is frequently seen in children with LPI and such children tend to have a poor prognosis. This article summarizes the clinical manifestations and gene mutation characteristics of three children diagnosed with LPI by SLC7A7 gene analysis. All three children had the manifestations of aversion to protein-rich food after weaning, delayed development, anemia, hepatosplenomegaly, and osteoporosis, as well as an increase in orotic acid in urine. In addition, interstitial pneumonia and diffuse pulmonary interstitial lesions were observed in two children. SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A. After a definite diagnosis was made, all three children were given a low-protein diet and oral administration of citrulline [100 mg/(kg.d)], iron protein succinylate [4 mg/(kg.d)], calcium and zinc gluconates oral solution (10 mL/day) and vitamin D (400 IU/day). In addition, patient 3 was given prednisone acetate (5 mg/day). The children had varying degrees of improvement in symptoms and signs. It is hard to distinguish LPI from urea cycle disorder due to the features of amino acid and organic acid metabolism in LPI, and SLC7A7 gene analysis is the basis for a definite diagnosis of LPI.

Brain injury after induction chemotherapy in children with acute lymphoblastic leukemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the changes in brain injury after the induction chemotherapy in children with acute lymphoblastic leukemia (ALL) by cranial MRI.</p><p><b>METHODS</b>The clinical data and cranial MRI results of 62 children with ALL who were hospitalized from March 2014 to June 2015 were analyzed retrospectively.</p><p><b>RESULTS</b>Before chemotherapy, MRI showed bone marrow infiltration of the skull in 33 patients (53%); the children with WBC<20×10(9)/Lhad a significantly lower incidence rate of bone marrow infiltration of the skull than those with WBC≥20×10(9)/L (16 patients/42% vs 17 patients/71%; P<0.05), and the high-risk group had a significantly higher incidence rate of bone marrow infiltration of the skull than the non-high-risk group (71% vs 44%; P<0.05). Before chemotherapy, there were 4 cases (7%) of brain atrophy, and 2 cases (3%) of abnormal signals in the sensory conduction bundle. MRI reexamination in 28 patients after 3 months of chemotherapy showed 3 new cases (11%) of brain atrophy and 1 aggravated case of brain atrophy.</p><p><b>CONCLUSIONS</b>The children with ALL have bone marrow infiltration of the skull, brain atrophy, and abnormal signals in the sensory conduction bundle before chemotherapy, especially bone marrow infiltration of the skull, and some changes in brain injury disappear after treatment.</p>

Alterations of CD4+CXCR5+Tfh cells and its transcription regulatory factors in children with asthma / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the alterations of follicular T helper cells (CD4(+)CXCR5(+)Tfh cells, Tfh) on circulating T lymphocytes in children with asthma, and to study the expression of transcription regulatory factors BCL-6 and BLIMP-1 mRNA.</p><p><b>METHODS</b>Sixty-four children with asthma and 25 healthy controls were enrolled in this study. On the basis of the disease, the children with asthma were classified into acute phase group (n=36) and remission phase group (n=28). The flow cytometry was used to detect the proportion of CD4(+)CXCR5(+)Tfh cells on CD4(+)T lymphocytes. Real-time PCR was performed to detect the levels of BCL-6 mRNA and BLIMP-1 mRNA. The double -antibody Sandwich ELISA was used to detect plasma concentrations of total IgE, IL-2, IL-6 and IL-21.</p><p><b>RESULTS</b>The proportion of CD4(+)CXCR5(+)Tfh cells was significantly higher in the acute group than in the control group and the remission group (P<0.05). Transcription levels of BCL-6 mRNA were significantly higher, while the inhibitory factors BLIMP-1 mRNA was significantly lower in the acute group than in the remission group and control group (P<0.05). The plasma concentration of IL-6 in the acute group increased significantly compared with the control group (P<0.05). Plasma concentrations of total IgE and IL-21 increased significantly, in contrast, plasma IL-2 concentration decreased significantly in the acute group, compared with the control group and the remission group (P<0.05). Correlation analysis showed that both IL-21 and IL-6 concentrations were positively correlated with the proportion of CD4(+)CXCR5(+)Tfh cells (r=0.76, r=0.46 respectively; P<0.05), while IL-2 level was negatively correlated with the proportion of Tfh cells (r=-0.68, P<0.05).</p><p><b>CONCLUSIONS</b>The abnormal proportion of CD4(+)CXCR5(+)Tfh cells might be involved in the immunological pathogenesis of acute asthma in children. The increased expression of BCL-6 mRNA and decreased expression of BLIMP-1 mRNA as well as the alterations of plasma total IgE, cytokines IL-2, IL-6 and IL-21 in microenvironment might be account for the increased proportion of CD4(+)CXCR5(+)Tfh cells in children with acute asthma.</p>

Significance of change of 14-3-3 protein in cerebrospinal fluid in different types of meningo encephalitis in children and value of judging brain injury / 中华实用儿科临床杂志

Objective To investigate the change of 14-3-3 protein in cerebrospinal fluid (CSF) in different types of meningoencephalitis in children and its value in judging brain injury.Methods CSF 14-3-3 protein bands were detected by means of Western blot in 22 patients with viral meningoencephalitis and 20 cases of purulent meningoencephalitis and with 15 cases of febrile seizures as the control group from Jul.2009 to Jun.2010,and in addition,the quantitative detection of 14-3-3 protein was done by way of ELISA.Correlation was analyzed between the clinical manifestations,prognosis,EEG,head CT or MRI and the changes of 14-3-3 protein.Results The positive rate of 14-3-3 protein in cases of purulent meningitis was 65.0(13/22 cases),higher than viral meningoencephalitis group(27.3％,6/22 cases),and the difference was significant.In the quantitative detection,14-3-3 protein was increased in both the purulent meningitis [(5.6 + 0.2) μg/L] and viral encephalitis groups[(3.2 + 0.3) μg/L] compared with the control group [(0.9 + 0.1) μg/L].After treatment,14-3-3 proteins were less than before in the purulent meningitis and viral meningoencephalitis groups.In the cases with severe clinical manifestations and severe injury brain suggested by imaging and EEG,the 14-3-3 protein in cerebrospinal fluid was elevated;and the prognosis of the cases with increased 14-3-3 protein was poor,as a result of epilepsy,death and so on.Conclusions 14-3-3 protein in the CSF increases with disease severity,so to a certain extent,it can be used to identify viral meningitis and purulent meningitis.

Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations.</p><p><b>METHODS</b>The 4 patients underwent brain computer tomography (CT) and magnetic resonance imaging (MRI) analyses. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of GCDH gene were amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>All patients have manifested macrocephaly, with head circumference measured 50 cm (14 months), 47 cm (9 months), 46 cm (5 months) and 51 cm (14 months), respectively. Imaging analyses also revealed dilation of Sylvian fissure and lateral ventricles, frontotemporal atrophy, subarachnoid space enlargement and cerebellar vermis abnormalities. All patients had elevated glutarylcarnitine (5.8 umol/L, 7.5 umol/L, 8.3 umol/L and 7.9 umol/L, respectively) and high urinary excretion of glutaric acid. Seven mutations were identified among the patients, among which c.146_149del4, IVS6-4_Ex7+4del8, c.508A>G (p.K170E), c.797T>C (p.M266T) and c.420del10 were first discovered.</p><p><b>CONCLUSION</b>Macrocephaly and neurological impairment are the most prominent features of glutaric academia type I. Blood tandem mass spectrometry and urine gas chromatographic mass spectrometry analysis can facilitate the diagnosis. The results can be confirmed by analysis of GCDH gene mutations.</p>

Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the feasibility of high-resolution melting (HRM) analysis for screening patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).</p><p><b>METHODS</b>Based on previous studies on SLC25A13 gene in Chinese patients with NICCD, four hotspot mutations (851del4, 1638ins23, IVS6+5G>A and IVS16ins3kb) were selected. Results of the HRM analysis was validated using 50 negative controls and 20 patients with NICCD whose genotypes were confirmed previously by direct sequencing. With the established protocol, 171 suspected patients were enrolled. Samples with abnormal melting curves were further validated by DNA sequencing.</p><p><b>RESULTS</b>HRM analysis can accurately determine the genotypes of all negative controls and patients. The sensitivity and specificity of the technique reached 100% (70/70). The melting curves of samples with the same genotype were highly reproducible. In 171 suspected patients, seven NICCD patients were detected by HRM. Identified mutations have included one case of 851del4 homozygote, one case of IVS6+5G>A heterozygote, 3 cases of 851del4 heterozygotes, one case of [IVS6+5G>A]+[ 851del4] and one case of [1638ins23+IVS16ins3kb]+[1638ins23]. All mutations were subsequently confirmed by DNA sequencing.</p><p><b>CONCLUSION</b>HRM analysis is a convenient, high-throughput and rapid technique for the screening of NICCD patients.</p>

A multicenter controlled study on aripiprazole treatment for children with Tourette syndrome in China / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of aripiprazole in the treatment of children with Tourette syndrome.</p><p><b>METHOD</b>A prospective, multi-center, controlled clinical trial was conducted in 195 children aged 5-17 years with Tourette syndrome. The patients were assigned to two groups: aripiprazole group (n=98) and tiapride group (n=97), with the treatment dosage of 5-25 mg/d and 100-500 mg/d, respectively. After 12 weeks treatment, the clinical efficacy was assessed by the Yale Global Tic Severity Scale (YGTSS) score, and adverse reactions were observed by side effects symptoms scale, blood biochemical indexes, and electrocardiography.</p><p><b>RESULT</b>Significant pre- and post-treatment differences were ascertained for motor tic, phonic tic, function damage and total scores of YGTSS in the both groups from the second week of treatment (P<0.0001). Compared with the tiapride group, the aripiprazole group showed a more significantly decreased function damage score of YGTSS by the second week of treatment (P<0.05). After 12 weeks treatment, total scores of YGTSS in the aripiprazole group decreased from 53.74±15.71 at baseline to 24.36±16.38, while in the tiapride group from 51.66±13.63 to 23.26±15.31. The mean reduction scores of YGTSS were 29.38 in the aripiprazole group and 28.40 in the tiapride group at the end of treatment, and the clinical response rates were 60.21% and 63.92%, respectively. There were no significant differences between the 2 groups (P>0.05). The incidence of adverse reactions was similar in the aripiprazole and tiapride groups, with 29.6% and 27.8% respectively. There were no significant differences in the incidence of adverse reactions between aripiprazole and tiapride groups and no severe adverse events were found in either group.</p><p><b>CONCLUSION</b>The results showed that aripiprazole showed similar therapeutic effect to tiapride in treatment of children with Tourette syndrome. Aripiprazole was safe and well tolerated in Chinese population, and can be considered as a new valid option for the treatment of tic disorders.</p>

SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency / 中国当代儿科杂志

<p><b>OBJECTIVE</b>Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing.</p><p><b>METHODS</b>Twenty children diagnosed as NICCD were consented to enroll in this study. PCR assays were performed to amplify the eighteen exons and its flanking sequences of SLC25A13 gene, which were defined as the upstream and downstream 50 bp from starting and ending site of the exons. Then the PCR products were purified and followed by automated DNA sequencing. The IVS16ins3kb mutation was detected by nested PCR and RT-PCR.</p><p><b>RESULTS</b>Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified in the subjects, of which c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C) were reported for the first time in NICCD patients. And a compound mutation of［1638ins23+IVS16ins3kb］was also identified. In 20 patients with NICCD, 6 patients were 851del4 homozygotes, 7 patients were compound heterozygotes, and 7 patients were heterozygotes of single mutation. 851del4 was the major mutation type (64%), followed by 1638ins23 (15%), IVS16ins3kb (12%) and IVS6+5G>A (6%).</p><p><b>CONCLUSIONS</b>851del4 is the major mutation type in Chinese patients with NICCD.</p>

Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type / 中华儿科杂志

<p><b>OBJECTIVE</b>CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia.</p><p><b>METHOD</b>The clinical data of 2 cases were analyzed. The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing.</p><p><b>RESULT</b>The age of onset was 13 years and 12 years, respectively. They both presented with nervous system symptoms. The main clinical features were developmental retardation and degradation, including motion, speech and intelligence. One patient complained of anemia. The other patient was misdiagnosed as having a viral encephalitis. Both patients showed remarkable elevation of methylmalonic acid and homocysteine levels in urine. Both had received therapy with vitamin B(12). The symptoms were rapidly relieved. The follow-up till now showed apparent improvement in the 2 cases. Three mutations in the MMACHC gene were found in the two Chinese pedigrees. Both patients were compound heterozygotes of two mutant alleles: one patient had a G-to-A transition at nucleotide 482 (G482A) that caused an arginine-to-glutamine substitution at position 161 of the protein (R161Q), and a deletion of AAG at nucleotide 658_660 (658_660delAAG) which resulted in lysine deleting at position 220 of the protein (K220del); the other patient had a G482A and a G-to-A transition at nucleotide 609 (G609A) that caused a tryptophan-to-termination codon substitution at position 203 of the protein (W203X). Otherwise, the authors also detected parents of two families. Each had a heterozygote of one mutation.</p><p><b>CONCLUSION</b>Late-onset methylmalonic acidemia patients had a variety of clinical manifestation, the first symptom was mainly abnormality of nervous system. One case was accompanied with hematological abnormalities. Two patients were vitamin B(12) responsive. In this study, the mutations were all detected on the fourth exon, the G482A mutation was probably associated with late-onset cases.</p>

Efficacy and safety of adjunctive levetiracetam in children younger than 4 years with refractory epilepsy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To evaluate of the efficacy and safety of adjunctive levetiracetam (LEV) in children younger than 4 years with refractory epilepsy.</p><p><b>METHODS</b>One hundred and twelve children at age of 4 months to 4 years with refractory epilepsy received LEV as adjunctive therapy. LEV was administered in two equal daily doses of 10 mg/kg. The dose was increased by 10 mg/kg every week up to the target dose (20-40 mg/kg). The efficacy and tolerability were evaluated.</p><p><b>RESULTS</b>At an average follow-up period of 13 months (6-22 months), LEV administration was found to be effective in 43 children (38.4%) (responders showing more than a 50% decrease in seizure frequency) and 14 children (12.5%) became seizure-free. Fifty-three children (47.3%) did not respond to the treatment and 2 children (1.8%) worsened. The therapy-related adverse events were mild, including restlessness, reduction in sleep time, night terrors, debility, somnolence, nausea and vomiting. The adverse events were either tolerable or resolved in time with dosage reduction in most of children, and only 3 cases required discontinuation.</p><p><b>CONCLUSIONS</b>LEV as adjunctive therapy is effective and well-tolerated in children younger than 4 years with refractory epilepsy, suggesting that it represents a valid option for the treatment of refractory epilepsy in this age group.</p>

Benign infantile convulsions with mild gastroenteritis: clinical analysis of 40 cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the pathogenesis, clinical characteristics and treatment of benign infantile convulsions with mild gastroenteritis (BICG).</p><p><b>METHODS</b>The clinical manifestations and laboratory findings were observed in 40 children with BICG. The antigen and antibodies of rotavirus and calicivirus in stool and cerebral spinal fluid (CSF) were tested by the golden standard method and ELISA. The neurological outcome was evaluated by a follow-up of six months or more.</p><p><b>RESULTS</b>All of the 40 children had mild gastroenteritis with or without minor dehydration. Cluster convulsions were observed in these children. There were normal findings in blood biochemistry (Na+, K+, Ca2+, Cl-, HCO3-, glucose) and cerebral CT or MRI examinations. The interictal EEG showed sprinkle central or frontal epileptiform discharges in 8 children; clear central and parietal epileptiform discharges in 1 child; and no abnormal findings were observed in the other 31 children. Positive rotavirus antigen was detected in 11 children and positive calicivirus antigen in stool samples in 4 children. Positive antibodies of rotavirus and calicivirus in CSF were not seen. Seizures recurred in 22 of 28 children who received prophylactic injections of phenobarbital(5-10 mg/kg). In a 6 months follow-up, one child developed epilepsy and the other 39 children had no seizures and neurological sequelae.</p><p><b>CONCLUSIONS</b>The digestive system manifestations are mild in children with BICG. Convulsions are always clustered in these children. The mechanism underlying convulsions is not clear. Conventional dose of phenobarbital is not effective for prevention of seizures. Most of children with BICG have a good prognosis.</p>

Follow-up of tuberous sclerosis complex complicated by epilepsy in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the treatment outcome and risk factors for intractable seizures in children with tuberous sclerosis complex(TSC)complicated by epilepsy.</p><p><b>METHODS</b>The medical data of 66 cases of TSC were retrospectively studied.</p><p><b>RESULTS</b>Of the 66 children with TSC, 47 cases were available for follow-up. The follow-up period ranged from 7 months to 9.3 years (average 4.5 + or - 2.6 years). The patients' present average age was (7.7 + or - 4.1) years (median 8 years). Among the 47 cases, 19 (40%) had infantile spasms, 24 (51%) had tonic seizures, 15 (32%) had partial seizures, and 3 (6%) had tonic-clonic seizures, and additionally, multifocal seizures, atonic seizures, atypical absence seizures and hypomotor seizures each appeared in 1 case (2%) respectively. The average number of antiepileptic drugs used was 1.9 + or - 0.86 (median 1). Among the 47 patients, 12 (26%) still had epileptic seizures and 33 (70%)were seizure-free, and 4% were dead. Three cases underwent surgery and continued to receive medication after surgery. The three patients were seizure-free in a 1.5 years follow-up. Among the 30 children over 7 years old, 17 cases (57%) were enrolled in ordinary schools, 3 cases (10%) in special schools and the other 10 cases were off-school for disabilities of intelligence and speech. The non-conditional logistic regression showed that the age of onset (RR=1.8, 95% CI 1.0- 3.2, P=0.050), administration of multiple antiepileptic drugs (RR=4.8, 95% CI 1.2-18.6, P=0.024), tonic seizures (RR=0.003, 95% CI 0.0- 0.2, P=0.04) and sex (RR=0.016, 95% CI 0.0-0.5, P=0.017) were risk factors for intractable seizures.</p><p><b>CONCLUSIONS</b>The majority (70%) of children with TSC complicated by epilepsy can be seizure-free with suitable treatment. The risk factors of poor outcome in seizure control may involve in the early onset age, tonic seizures and the administration for multiple anti-epileptic drugs.</p>

Valproic acid versus lamotrigine as a monotherapy for absence epilepsy in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To compare the efficacy of valproic acid (VPA) and lamotrigine as a monotherapy for absence epilepsy in children.</p><p><b>METHODS</b>A randomized, open-label design was used. Childhood absence epilepsy was diagnosed based on the presence of typical seizures and video-EEG findings. Eligible patients were randomly treated with VPA or lamotrigine. All patients were followed up for 12 months.</p><p><b>RESULTS</b>Forty-five out of 48 eligible children completed the study. There were 23 children in the VPA group and 22 children in the lamotrigine group. Seventeen children were seizure-free in the VPA group 12 months after treatment. Fifteen out of the 17 children showed normal EEG (no epileptic-formed discharge). Twelve children were seizure-free in the lamotrigine group 12 months after treatment. The proportion showing normal EEG in the lamotrigine group (6/22, 27.3%) was significantly lower than that in the VPA group (15/23, 65.2%) (P<0.05). Severe adverse effects were not found in both groups.</p><p><b>CONCLUSIONS</b>Both VPA and lamotrigine are safe and efficacious for treatment of absence seizures in children. VPA appears to be better than lamotrigine in tapering epileptic-formed discharge.</p>

Interictal epileptiform discharges in children with epilepsy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the features of interictal epileptiform discharges (IED) during sleep and wakefulness in children with epilepsy.</p><p><b>METHODS</b>The polysomnography, active EEG and video EEG were performed on 48 children with epilepsy during the whole night, and wakefulness of pre- and post-sleep. The epileptiform sharp/spike discharge indexes during sleep and wakefulness were recorded. The positive rate of IED in focal and generalized epilepsy was compared.</p><p><b>RESULTS</b>Of the 48 patients, 25 showed IED, including 9 cases (36.0%) in the generalized seizure group and 16 cases (64.0%) in the focal seizure group (P<0.05). The epileptiform sharp/spike discharge indexes in the whole non-rapid eye movement (NREM) sleep stage (stages S1-S4: 21.13+/-19.96, 19.59+/-17.76, 22.85+/-18.99, and 20.37+/-16.63) were significantly higher than that in the wakefulness stage (8.20+/-6.21) (P<0.05). The discharge index in the S3 stage during NREM sleep was higher than that during the rapid eye movement (REM) sleep (22.85+/-18.99 vs 12.91+/-10.95; P<0.05).</p><p><b>CONCLUSIONS</b>The positive rate of IED in the focal seizure group was higher than that in the generalized seizure group. Sleep, especially NREM sleep, facilitates IED in children with epilepsy.</p>

Association of a polymorphism in MDR1 C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>P-glycoprotein 170 (P-gp) is a plausible biologic candidate for pharmacoresistance in epilepsy. The expression and efflux efficiency of P-gp is influenced by a polymorphism (C3435T) in the encoding gene (MDR1). The CC genotype at the MDR1 C3435T polymorphism was reported to be associated with the response to antiepileptic drug treatment. This study attempted to replicate this finding by examining the association of this genetic polymorphism with response to antiepileptic drug treatment in ethnic Han Chinese children with epilepsy.</p><p><b>METHODS</b>Two hundred and fourteen ethnic Han Chinese children with epilepsy were classified based on the response to antiepileptic drug treatment: drug-nonresponsive and drug-responsive. DNA samples were obtained from the patients. Genotypes of the C3435T polymorphism were determined by traditional polymerase chain reaction followed by restriction digestion (PCR-RFLP). The frequency of genotypes and alleles between the two groups was compared by Chi-square test.</p><p><b>RESULTS</b>Of the 214 patients, 164 were drug-responsive and 50 were drug-nonresponsive. There were no significant differences in the allele frequency and genotype frequency between the two groups.</p><p><b>CONCLUSIONS</b>There is no an association between the CC genotype or C allele at the locus of C3435T in MDR1 gene and response to antiepileptic drug treatment in ethnic Han Chinese children with epilepsy.</p>

Clinical Survey of 5 Children with Organic Acidemias / 实用儿科临床杂志

Objective To improve the recognition of nervous system symptoms of inborn errors.Methods Five patients with organic acidemias were screened by urine organic acid analysis(gas chromotography-mass spectrometry,GC/MS),3 cases of methylmalolic acidemias(MMA) and 2 cases of propionic acidemias(PA) were confirmed.They were treated with special diet and medicine after diagnosis.Result The improvement of mental development was observed after treatment.Conclusions Most of organic acidemias involve nervous systems,causing non-specific symptoms of nervous system as lethergy,seizures,mental retardation.Inborn errors of metabolism shall be kept in mind when causes of the symtoms of acidosis,seisures,mental retardation and lethergy are investigated.GC/MS is a very important method in diagnosis of organic acidemias.Early diagnosis and early treatment can improve the mental prognosis.

Case Control-Study on Efficacy of Carbamazepine and Oxcarbazepine in Treating Frontal Lobe Epilepsy as Monotherapy in Children / 实用儿科临床杂志

0.05).Conclusions Both CBZ and OXC are effecive in treating typical frontal lobe seizures.

Preliminary Observation of Ketogenic Diet Therapy for Children with Intractable Epilepsy / 实用儿科临床杂志

Objective To observe the therapeutic effect of ketogenic diet therapy for children with intractable epilepsy and its safety.Methods Fifteen patients with intractable epilepsy were treated with ketogenic diet that was modified specifically for Chinese people.The compliance,seizure frequency and side effects were followed up.Results Twelve patients maintained on the treatment for 1 month.Among them,the reduction of seizure frequency in 10 patients exceed 50%.Ten patients maintained on the treatment for 3 months.Among them,the reduction of seizure frequency in 8 patients exceed 50%.Five patients maintained on the treatment for more than 6 months.The reduction of seizure frequency all exceed 50%.The reduction of seizure frequency in 4 patients exceed 90%.The seizures of 3 patients were controlled completely.Ten patients among all cases had various adverse effect,such as nausea,vomiting,diarrhea,constipation,hypoglycemia(nonsymptomatic),hyperlipemia and damage of liver function and so on,which could eliminate by anti-symptomatic treatment.Conclusions Ketogenic diet is effective and safe in Chinese children with intractable epilepsy with modified methods specifically for Chinese.The effect is unrelated with seizure types obviously.