The objective of this study is to explore the incidence of inherited metabolic disorders (IMD) in infants with infantile spasms (IS), with an attempt to improve the early diagnosis and etiological and symptomatic treatment. Urine and blood samples were collected from 60 IS patients and analyzed for the quantification of amino acids, organic acids, and fatty acids by gas chromatography-mass spectrometry and tandem mass spectrum. Routine urine tests, hepatic function tests, blood biochemistry, brain imaging, as well as examinations of the brain stem auditory/visual evoked potentials were also examined. In addition to antiepileptic therapy, etiological and symptomatic treatments were also conducted in infants with confirmed IMD and the follow-up lasted for 6 months in these pediatric patients. Metabolic disorders were found in 28 (46.67 %) of 60 IS infants, among them 13 (21.67 %) were confirmed to be with IMD. Twelve of these 13 IS patients with definite IMD diagnoses (92.31 %) experienced varying degrees of delayed development of intelligence and motor function, 8 patients (61.54 %) had abnormal cranial CT or MRI findings, 11 patients (84.61 %) had abnormal brain stem evoked potentials, 4 patients (30.77 %) had abnormal hepatic functions, 3 patients (23.07 %) had abnormal blood biochemistry, 2 patients (15.38 %) had positive (+ to ++) results for routine urine ketones, and 2 patients (15.38 %) had skin lesions. After treatment in children who were diagnosed IMD, the well controlled epileptic seizures and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each. IMD is a key biological cause in IS. Early screening for IMD is warranted in IS infants to facilitate the improvement for the prognosis and an early etiological treatment.
The present study was aimed to evaluate the association of lipoprotein lipase (LPL) gene (S447X and Hind III) polymorphisms and T2DM. Relevant studies were identified through systematic search PubMed, Cochrane Library, Embase, Wanfang, CNKI databases. A total of 22 studies (8 studies for LPL S447X and 14 studies for Hind III) were included. The results showed that the LPL S447X polymorphism was associated with the low risk of T2DM under dominant and allelic genetic models. Subgroup analysis by ethnicity showed that the LPL S447X polymorphism was associated with a decreased risk of T2DM in the Asian population (under dominant, heterozygous and allelic genetic models). In addition, we found that X allele carriers of S447X polymorphism is associated with low levels of TC, TG, and LDL. In subgroup analysis, Hind III polymorphism was associated with low risk of T2DM in Asian populations (under dominant, heterozygote, allele genetic models). Moreover, the carriers of H allele of Hind III have lower levels of TG, and higher levels of HDL-C. This meta-analysis demonstrated that 447X carriers and H allele in LPL gene associated with low risk of T2DM, which may due to in part to the change of serum level of TC, TG, LDL, and HDL.
Epilepsy is a common children's neural disease that is largely controlled by anti-epileptic drugs. Nevertheless, children experience repeated attacks that develop into intractable epilepsy (IE). The aim of the present study was to examine the inherited metabolic abnormalities in children with IE to provide early etiological and symptomatic treatment. Urine and blood samples of 56 children with IE served as the experimental group and 56 cases of children with IE, who were successfully treated served as the control group, and analyzed by gas chromatography-mass spectrometry and tandem mass spectrometry for the metabolic screening of amino, organic, and fatty acids. Urine routine, hepatic function, blood biochemistry, imageology of encephalon and brain stem-evoked potential (auditory and optical) were also examined. Of the 27 IE children confirmed as abnormal in urine and blood screening, there were 19 cases (70.3%) of hypoevolutism or retrogression of intelligence and motor function, 15 cases (55.5%) of brain stem-evoked potential and of encephalic computed tomography (CT) or magnetic resonance imaging (MRI) abnormality, 6 cases (22.2%) of abnormal family history and of abnormal blood biochemistry and blood gas analysis, and 5 cases (18.5%) with skin change and of abnormal hepatic function. Of the 27 cases, 11 cases (19.6%) were diagnosed with inherited metabolic diseases. Among the children in the control group, 3 cases showed abnormal urine test results, one of which had family history, one had hypoevolutism or retrogression of intelligence and motor function, one had brain stem-evoked potential and encephalic CT or MRI abnormality, while two of the 3 cases had inherited metabolic abnormalities. The correlation analysis revealed that abnormal urine test was significantly correlated with inherited metabolic abnormalities (P<0.05). Of the 56 IE patients, 25 cases (44.6%) were identified as abnormal under urine screening, and of the 25 cases, 6 cases had simple generalized seizure (24.0%), 5 cases had simple partial seizure (20.0%), 2 cases had multiple types of seizure (8.0%), and 12 cases had infantile spasms (48.0%). Six cases in the control group showed an abnormal urine test, with 3 cases of simple generalized seizure, 2 cases of simple partial seizure and 1 case of multiple types of seizure. The abnormal urine in infantile spasms was often the risk factor of IE. A total of 46 IE children underwent blood screening and 13 cases were diagnosed as abnormal. In conclusion, inherited metabolic abnormality was a common influential factor in the pathogenesis of IE, especially in infantile spasms. Screening of inborn metabolic abnormality in children with IE should be conducted as early as possible, to achieve early treatment and improve their prognosis.
Intactable epilepsy (IE) is relatively common in pediatric epilepsy. The resistance mechanism of IE has been previously investigated. Multidrug-resistant associated protein 1 (MRP1) and MRP2 are associated with drug transport. The aim of the present study was to investigate the expression of MRP1 and MRP2 in peripheral blood mononuclear cells of children with IE. Fifty outpatient or inpatient children were included in the study as the experimental group. Additionally, 50 children with epilepsy controlled by anti-epileptic drugs (AEDs) and 50 healthy children without epilepsy, who served as the control group, were included in the present study. Expression of MRP1 and MRP2 in the peripheral blood mononuclear cells of children in all the groups was detected using RT-PCR and western blot analysis. The results showed that the relative expression of MRP1 and MRP2 mRNA in the peripheral blood mononuclear cells of children with IE (MRP1, 0.795±0.042; MRP2, 0.804±0.023) was higher than that in epilepsy controlled by AEDs (MRP1, 0.682±0.030; MRP2, 0.675±0.021) and healthy children without epilepsy (MRP1, 0.665±0.031; MRP2, 0.654±0.029) (P<0.01). The mean relative expression of MRP1 and MRP2 protein in the peripheral blood mononuclear cells of children with IE (MRP1, 2.027±0.034; MRP2, 1.902±0.021) was higher than that in children with epilepsy controlled by AEDs (MRP1, 1.131±0.042; MRP2, 1.086±0.027) and healthy children without epilepsy (MRP1, 1.093±0.023; MRP2, 1.045±0.018) (P<0.01). The difference in the MRP1 and MRP2 mRNA and protein expression between the children with epilepsy controlled by AEDs and healthy children without epilepsy was not statistically significant (P>0.05). In conclusion, a higher expression of MRP1 and MRP2 in the peripheral blood mononuclear cells of children with IE may be relevant to the drug-resistant mechanism of IE.
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