[Characteristics of the left heart structure and function in 86 term neonates with intrauterine growth restriction]. / 86ä¾‹å®«å† ç”Ÿé•¿å—é™è¶³æœˆæ–°ç”Ÿå„¿çš„å·¦å¿ƒç»“æž„åŠåŠŸèƒ½åˆ†æž.

OBJECTIVES: To study the left heart structure and functional characteristics of term neonates with intrauterine growth restriction (IUGR). METHODS: This study included 86 term neonates with IUGR admitted to the Neonatal Ward of Beijing Friendship Hospital, Capital Medical University from January 2019 to January 2022 as the IUGR group, as well as randomly selected 86 term neonates without IUGR born during the same period as the non-IUGR group. The clinical data and echocardiographic data were compared between the two groups. RESULTS: The analysis of left heart structure and function showed that compared with the non-IUGR group, the IUGR group had significantly lower left ventricular mass, left ventricular end-diastolic diameter, left ventricular end-systolic diameter, left atrial diameter, end-diastolic interventricular septal thickness, left ventricular posterior wall thickness, left ventricular end-diastolic volume, left ventricular end-systolic volume, and stroke volume (P<0.05) and significantly higher ratio of end-diastolic interventricular septal thickness to left ventricular posterior wall thickness, proportion of neonates with a mitral peak E/A ratio of ≥1, and cardiac index (P<0.05). The Spearman correlation analysis suggested that stroke volume was positively correlated with birth weight and body surface area (rs=0.241 and 0.241 respectively; P<0.05) and that the ratio of end-diastolic interventricular septal thickness to left ventricular posterior wall thickness was negatively correlated with birth weight and body surface area (rs=-0.229 and -0.225 respectively; P<0.05). CONCLUSIONS: The left ventricular systolic function of neonates with IUGR is not significantly different from that of neonates without IUGR. However, the ventricular septum is thicker in neonates with IUGR. This change is negatively correlated with birth weight and body surface area. The left ventricular diastolic function may be impaired in neonates with IUGR.

[Effect of Zhifei mixture combined western drugs on symptoms and signs of children with mycoplasma pneumonia].

OBJECTIVE: To observe the effect of three Chinese medical formulae (Zhifei Mixture I , Zhfei Mixture II, and Zhifei Mixture II) on main and secondary symptoms and signs of children with Totally 70 mycoplasma pneumonia in treating three types of children mycoplasma pneumonia. METHODS: children with mycoplasma pneumonia were assigned to the control group (38 cases) and the treatment group (32 case). All patients were intravenously injected with Azithromycin and took Ambroxol Hydrochloride and Clenbuterol Hydrochloride Oral Solution. Those in the treatment group additionally took Zhifei Mixture I , Zhfei Mixture II, and Zhifei Mixture Ill by syndrome typing. Their main and secondary symptoms and signs were observed before and after treatment (main symptoms and signs covered fever, cough, abundant sputum, short breath, and anoxia; secondary symptoms and signs covered aversion to cold, heart rate, facial complexion, spirit, appetite, and sweating). RESULTS: Seven patients were lost in this study. Compared with before treatment in the same group, scores for main and secondary symptoms and signs decreased in the treatment group (P <0.01). The therapeutic effect on fever and cough was obviously better in the control group (P <0.01). The main and secondary symptoms and signs were more obviously improved in the treatment group than in the control group (P <0.01). Commpared with the control group, scores for main and secondary symptoms and signs decreased more in the treatment group (P <0.01). Patients' main and secondary symptoms and signs were more obviously improved (P <0.05). CONCLUSIONS: Zhifei Mixture combined Western drugs could significantly improve main and secondary symptoms and signs of mycoplasma pneumonia children patients. Its efficacy was superior to that of using Western medicine alone.

Congenital candidiasis in a full-term infant: A case report.

Congenital systemic candidiasis is a rare disease observed in both full-term and preterm infants. It can occur with or without congenital cutaneous candidiasis (CCC) and to date, only a few cases have been reported in the literature. We report here, a case of a full-term newborn who presented with diffuse skin eruptions at birth. Blood, urine, and skin scraping cultures were positive and the aetiological agent was Candida albicans. After six weeks of anti-fungal treatment with fluconazole, the newborn was cured. Early diagnosis is crucial in preventing complications caused by candidiasis in newborns.

Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review.

Background: Mutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of DYNC1H1 and review the relevant literature to explore genotype-phenotype relationships. Case presentation: A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy. Brain magnetic resonance imaging (MRI) at 14 months-of-age revealed pachygyria. At 4 years-of-age, the patient exhibited severe developmental delay and mental retardation. A de novo heterozygous mutation (p.Arg292Trp) in the DYNC1H1 gene was identified. A search of multiple databases, including PubMed and Embase, using the search strategy DYNC1H1 AND [malformations of cortical development OR seizure OR intellectual OR clinical symptoms] up to June 2022, identified 129 patients from 43 studies (including the case presented herein). A review of these cases showed that patients with DYNC1H1-related MCD had higher risks of epilepsy (odds ratio [OR] = 33.67, 95% confidence interval [CI] = 11.59, 97.84) and intellectual disability/developmental delay (OR = 52.64, 95% CI = 16.27, 170.38). Patients with the variants in the regions encoding the protein stalk or microtubule-binding domain had the most prevalence of MCD (95%). Conclusion: MCD, particularly pachygyria, is a common neurodevelopmental disorder in patients with DYNC1H1 mutations. Literature searches reveales that most (95%) patients who carried mutations in the protein stalk or microtubule binding domains exhibited DYNC1H1-related MCD, whereas almost two-thirds of patients (63%) who carried mutations in the tail domain did not display MCD. Patients with DYNC1H1 mutations may experience central nervous system (CNS) manifestations due to MCD.

Retrospective analysis of the effectiveness of first-line antiepileptic drugs for generalized onset and unclassified epileptic seizures in Chinese children.

BACKGROUND AND PURPOSE: Based on the time until treatment failure, we retrospectively analyzed 389 children to compare the long-term effectiveness of first-line antiepileptic drugs (AEDs) in children with generalized onset or unclassified epileptic seizures. METHODS: Analyses were based on time until treatment failure and time until remission. RESULTS: In terms of time until treatment failure, the failure rates of topiramate and carbamazepine were higher than that of sodium valproate (p < 0.05). For time until 1-year remission, sodium valproate was found to be significantly better than either topiramate or carbamazepine (p < 0.05). For the subgroup with generalized onset epilepsy, sodium valproate was much better than either topiramate or carbamazepine (p < 0.05). No significant differences were found between topiramate and carbamazepine (p = 0.319). For unclassified epileptic seizures, no significant differences were found among the three AEDs. CONCLUSION: Sodium valproate should be the drug of choice for patients with children with generalized onset, and no significant differences were found among the three AEDs in unclassified epileptic seizures.

Effect of intestinal microecology on postnatal weight gain in very preterm infants in intensive care units.

OBJECTIVE: To study the effect of intestinal microecology on postnatal weight gain of very preterm infants in neonatal intensive care unit (NICU). METHODS: Very preterm infants who met the inclusion criteria were enrolled. The subjects were divided into the extrauterine growth retardation (EUGR) group(defined as a body weight less than the 10th percentile of the corresponding gestational age or a weight loss between birth and a given time of > 2SD were considered EUGR) and normal growth group, and the growth was evaluated at 2 and 4 weeks after birth. Meanwhile, the stool samples were taken to perform16S ribosomal RNA (rRNA) high -throughput 16S rRNA sequencing of the intestinal microflora was performed on stool samples. RESULTS: A total of 22 infants were included. There was no significant difference in the alpha diversity indexes indices between the two groups at 2 weeks or 4 weeks after birth. The beta diversity analysis showed that the two groups had similar principal components of the intestinal microflora were similar between the two groups. Linear discriminant analysis (LDA) effect size (LEfSe) showed that 2 weeks after birth, the bacteria with an absolute LDA score (log10) higher than 4 included Streptococcaceae, Streptococcus, Bacteroidetes, Bacteroidales and Stenotrophomonas in the EUGR group and Enterococcaceae and Enterococcus in the control group. At the 4th week after birth, the bacteria with an absolute LDA score (log10) higher than 3 in the EUGR group includedwere Clostriaceae, Eubacteriaceae and Eubacterium. TheBy comparing the composition of the microbial community composition comparison showed, significant differences were found in the principal components of Enterococcus and Streptococcus on the family and genus levels at 2 weeks after birth. No Bifidobacterium was found in either group at 4 weeks after birth. CONCLUSION: Intestinal microecology is different between infants with EUGR and those with normal growth. The diversity and richness of the intestinal microflora in preterm infants at the NICU are significantly insufficient and change dynamically with time, and the establishment of intestinal homeostasis is obviously delayed.

ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH.

OBJECTIVE: Adrenocorticotropin hormone (ACTH) has been the standard treatment to infantile spasms (IS). However, the mechanism of ACTH therapy is still unclear. ACTH exerts the function via melanocortin 2 receptor (MC2R). Our previous study showed a common 4-single nucleotide polymorphism (SNP) haplotype TCCT at the MC2R promoter was strongly associated with responsiveness to ACTH therapy, where these 4 SNPs [rs1893219, rs1893220, rs2186944, and a novel SNP (T>C)] were mapped at position -853, -759, -7, and -2 bp based on the transcription start site of the MC2R gene. In this study, we further elucidated functional significances of the TCCT haplotype. METHODS: To evaluate whether the TCCT haplotype influences MC2R transcription levels, the luciferase reporter vector was used by a transient transfection. Expression of rat MC2R cDNA driven by the TCCT-carrying or TCCC-carrying promoter was detected by the real-time quantitative reverse transcription-PCR. These assays were performed on cell lines cultured in absence or presence of ACTH. RESULTS: In the baseline, the light intensity of the luciferase reporter assay driven by the TCCT promoter was four times higher than that by the TCCC promoter. The intensity was dramatically increased in the pGL3-TCCT after ACTH stimulation, compared to that in the pGL3-TCCC. MC2R expression assay showed a 5-fold increase in the TCCT promoter in presence of ACTH, compared with that in absence of ACTH. CONCLUSION: The results showed that the haplotype TCCT in MC2R promoter significantly led to increased MC2R expression and strong responses to ACTH, providing evidence of the molecular mechanism of ACTH therapy in IS.

A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms.

AIM: Adrenocorticotropic hormone (ACTH) has been used as the major therapy for infantile spasms since 1958 because it effectively suppresses seizures; it also normalizes the electroencephalogram in the short-term treatment of infantile spasms. G protein-regulated inducer of neurite outgrowth 1 (GRIN1, also known as N-methyl-D-aspartate receptor 1, NMDAR1), a glutamate receptor, is the main component of functional N-methyl-D-aspartic acid receptors that are involved in the glucocorticoid-induced neuronal damage. Thus, it may be a candidate gene to be tested for responsiveness to ACTH in infantile spasms. In the present study, polymorphisms in the GRIN1 gene in infantile spasms were investigated using a case-control design. METHOD: Twelve single nucleotide polymorphisms in the GRIN1 gene were genotyped in a Chinese case-control set consisting of 97 unrelated patients with infantile spasms (60 males, 37 females; mean age 6.4 mo, SD 2.7) and 96 healthy individuals (63 males, 33 females; mean age 7.3 mo, SD 3.8). Association analysis was performed on the genotyped data. RESULTS: Five estimated haplotypes with a frequency of more than 3% were detected. Results of the study showed that responsiveness to treatment with ACTH in homozygous carriers of the CTA haplotype was higher than that in heterozygous carriers and non-carriers (p=0.022). Furthermore, CTG, a rare haplotype, was strongly associated with infantile spasms (p=0.013). INTERPRETATION: The results suggest that haplotypes of GRIN1 may influence responsiveness to ACTH. The findings necessitate further study for confirmation.

[Concentrations of granulocyte colony-stimulating factor in children with moyamoya disease].

OBJECTIVE: To explore the roles of granulocyte colony-stimulating factor in the pathogenesis of moyamoya disease. METHODS: Serum G-CSF concentrations were measured using enzyme linked immunosorbent assay (ELISA) in 20 children with moyamoya disease and 20 healthy children. RESULTS: Serum G-CSF concentration (35.7+/-10.3 pg/mL) in children with moyamoya disease was significantly higher than that in healthy controls (23.5+/-3.8 pg/mL) (p<0.01). CONCLUSIONS: The elevated serum G-CSF concentration in children with moyamoya disease suggests that G-CSF may play an important role in the pathogenesis of moyamoya disease.

The brain development of infants with intrauterine growth restriction: role of glucocorticoids.

Brain injury is a serious complication of intrauterine growth restriction (IUGR), but the exact mechanism remains unclear. While glucocorticoids (GCs) play an important role in intrauterine growth and development, GCs also have a damaging effect on microvascular endothelial cells. Moreover, intrauterine adverse environments lead to fetal growth restriction and the hypothalamus-pituitary-adrenal (HPA) axis resetting. In addition, chronic stress can cause a decrease in the number and volume of astrocytes in the hippocampus and glial cells play an important role in neuronal differentiation. Therefore, it is speculated that the effect of GCs on cerebral neurovascular units under chronic intrauterine stimulation is an important mechanism leading to brain injury in infants with growth restrictions.

Effects of Folic Acid on DNMT1, GAP43, and VEGFR1 in Intrauterine Growth Restriction Filial Rats.

OBJECTIVE: To investigate the effect of a folic acid intervention on the outcome of intrauterine growth restriction (IUGR) filial rats and changes in DNA methyltransferase 1 (DNMT1), growth-associated protein 43 (GAP43), and vascular endothelial growth factor receptor 1 (VEGFR1). METHODS: The IUGR animal model was established using a starvation method in pregnant rats. The animals were randomly divided into 4 groups: normal controls, IUGR rats, IUGR rats given folic acid, and IUGR rats given normal saline. After the rats were weighed, the brain tissue was removed and the messenger RNA and protein levels of DNMT1, GAP43, and VEGFR1 were validated by reverse transcription-polymerase chain reaction and western blot. RESULTS: Birth weight was significantly increased after intervention with folic acid compared with the IUGR group, although it remained about 16% lower compared with the normal controls. The expressions of DNMT1 and GAP43, which were significantly upregulated in the IUGR group compared with the normal controls, were decreased with the folic acid intervention. However, there were no significant differences in VEGFR1 expression across groups. CONCLUSION: Brain damage in IUGR rats mainly manifests as delayed myelination or synaptic maturation and rarely as pathological proliferation of blood vessels. Our results strongly support the idea that the application of folic acid during pregnancy might represent a new epigenetic therapy for IUGR.

Integrated analysis of genome-wide DNA methylation and gene expression data provide a regulatory network in intrauterine growth restriction.

Intrauterine growth restriction (IUGR), a serious complication of perinatal period, results in metabolic and brain disorders. However, the exact cause of IUGR remains unclear. Recently, some evidences indicated that epigenetic modification plays an important role in IUGR. Hence, in this study the methylation status and gene expression profiles of IUGR were compared to investigate the changes in epigenetic regulation and gene expression induced by IUGR. DNA samples extracted from blood samples of infants with IUGR and controls appropriate for gestational age (AGA) were analyzed with Illumina Human Methylation 450k array to identify differences in genome-wide DNA methylation, and results were verified by Mass ARRAY. Moreover, an IUGR rat model was established by maternal malnutrition method, and gene expression profiles associated with progressive DNA methylation changes in brain tissue were detected using microarray Affymetrix Rat Gene 2.0ST. Based on DNA methylation array, 2265 genes are differentially methylated between IUGR and AGA 1338 genes in the promoter region. Genes with differentially methylated CpG loci in the promoter region enriched in 10 pathways.1311 differentially expressed genes were obtained by Microarray. 36 significantly enriched pathways were identified. After comparing DNA methylation data with gene expression data, 49 genes showed a negative correlation between DNA methylation and gene expression. 27 commonly enriched pathways were identified, which involved sugar, fat and protein metabolism, diseases of the nervous system, cancer, and immunomodulation and endocrine regulation. These findings suggest the epigenetic regulatory mechanisms on corresponding gene expression which may play a role in the adult-onset diseases induced by IUGR.

Effect of Qingfei Mixture () on pediatric mycoplasma pneumoniae pneumonia with phlegm heat obstructing Fei (Lung) syndrome.

OBJECTIVE: To explore the effect and mechanism of Qingfei Mixture (), a Chinese medicine, in treating mycoplasma pneumonia (MP) in MP patients and rat model METHODS: A total of 46 MP children with phlegm heat obstructing Fei (Lung) syndrome were randomly assigned to two groups by the method of random number table, with 23 children in each group. The control group was treated with intravenous infusion of azithromycin; the treatment group received intravenous infusion of azithromycin and oral administration of Qingfei Mixture. The treatment course was 7 days. Major symptoms and minor symptoms were observed and scored before and after treatments. A rat model of MP was also established. A total of 120 wistar rats were randomly divided into 5 groups: a normal group, infection group, Qingfei Mixture treatment group, azithromycin treatment group, and Qingfei Mixture + azithromycin treatment group. Each group contained 24 rats, from which every 6 were euthanatized 1, 3, 7 and 14 days after infection. MP DNA in pulmonary tissue homogenates was detected using real-time fluorescence quantitative polymerase chain reaction. Pathology was assessed after hematoxylin (HE) staining and lung tissue pathology scores were determined in pulmonary tissue. Transmission electron microscopic detection and electronic image analysis were performed on lung tissue 3 days after infection. Interleukin (IL)-17 was detected in serum using enzymelinked immunosorbent assay (ELISA) 7 days after infection. RESULTS: In the clinical study, both control and the treatment group showed improved results on removing symptoms of phlegm heat syndrome compared to the control group (P<0.05). In animal experiments, On the 7th day after MP infection, as detected by electron microscopy, the pulmonary capillary basement membranes of the azithromycin + Qingfei Mixture treatment group were much thinner than those of the azithromycin or Qingfei mixture treatment groups (P<0.05). The level of serum IL-17 in the azithromycin + Qingfei Mixture treatment group was lower than that in the azithromycin or Qingfei Mixture groups (P<0.01). CONCLUSION: Both Qingfei Mixture and azithromycin have therapeutic effects on mycoplasma pneumoniae pneumonia, but the combination of both agents had the greatest effect.

Regulation of glucocorticoid-related genes and receptors/regulatory enzyme expression in intrauterine growth restriction filial rats.

AIMS: This study aims to explore factors that influence glucocorticoid (GC)-related genes and receptors/regulatory enzyme expression in intrauterine growth restriction (IUGR) filial rats. MAIN METHODS: An IUGR animal model was established by starvation, and brain tissue was removed after birth. Affymetrix Rat Gene 2.0 ST microarray was used to screen different expressions of GC-related genes in IUGR brain tissues. The mRNA and protein levels of related genes were validated by RT-PCR and western blot. KEY FINDINGS: Results of the microarray revealed that the expression of 11ß-Hsd2 was significantly downregulated in the IUGR group compared to the control group. Although Nr3c1 exhibited an overexpression trend in the IUGR group, there were no significant differences between the two groups. Further analysis suggests that the 11ß-Hsd2 was negatively correlated to Nr3c1. In the transcription level, the expression level of 11ß-Hsd2 mRNA decreased in the IUGR group, while the mRNA expression level of Nr3c1 significantly increased. In the protein level, the expression of 11ß-Hsd2 significantly decreased in the IUGR group; while the expression of Nr3c1 significantly increased in the IUGR group. However, there were no significant differences in Nr3c1 phosphorylated at S211 and S266 between the IUGR and control groups. SIGNIFICANCE: The expression of Nr3c1 was mainly regulated by 11ß-Hsd2, which could significantly inhibit its expression in IUGR rats. Phosphorylation on site S211 was the major activated form of Nr3c1. We speculate that IUGR brain damage was caused by excessive amounts of GC due to significant activation by Nr3c1.

Insights into the role of iron in immature rat model of hypoxic-ischemic brain injury.

This study aimed to investigate the role of iron in the occurrence and development of hypoxic-ischemic brain injury (HIBI) in immature rat models using 3-day-old Sprague Dawley rats. Normal control (NC), hypoxic-ischemic (HI), anemia, HI + ischemia, early iron treatment and late iron treatment groups were established. Rat brain tissue sections were stained with hematoxylin and eosin and pathologically evaluated. Iron content and mRNA expression levels of iron regulatory protein 2 (IRP2) and transferrin receptor in the brain tissues were measured. Ultrastructural changes in the actin, microtubules, myelin and mitochondria of oligodendrocytes and axons were examined by electron microscopy. Numbers of viable myelin sheaths and oligodendrocytes in the periventricular area were also observed. Pathological damage of brain tissue in the HI group was markedly increased compared with that in the NC group. Furthermore, there was a higher iron content and reduced number of viable oligodendrocytes in the periventricular area of the HI group compared with the NC group. No significant difference in iron content was observed between the HI + anemia and NC groups. The number of viable oligodendrocytes in the HI + anemia group was increased compared with that in the HI group, and the number in the HI + anemia group with late iron treatment was lower compared with that in the NC group and increased compared with that in the HI + anemia group. Electron microscopy revealed a significantly higher number of myelin sheaths in the HI + anemia group than in the HI group. IRP2 mRNA expression levels in the brain tissues were significantly decreased in the HI + anemia group compared with the HI group. The results suggest that anemia may reduce the rate of increase of iron content of the brain following HI. However, the early occurrence of anemia may protect against HIBI.

Association of serotonin transporter polymorphisms with responsiveness to adrenocorticotropic hormone in infantile spasm.

BACKGROUND: Serotonin or 5-hydroxytryptamine (5-HT) is an important neurotransmitter in the central nervous system. The serotonin transporter (5-HTT) is a key regulator of the level of serotonergic neurotransmission. In the present study, the contribution of 5-HTT polymorphisms to the risk of infantile spasm (IS) and the responsiveness to adrenocorticotropic hormone (ACTH) were investigated. METHODS: Two functional polymorphisms, the 44-bp insertion-deletion polymorphism in the promoter region (5-HTTLPR) and the variable number tandem repeat in the second intron (5-HTTVNTR), were genotyped in a Chinese case-control study involving 112 patients with IS and 120 controls. RESULTS: Genotyping yielded valid data in 111 patients and 118 controls for 5-HTTLPR and 110 patients and 118 controls for 5-HTTVNTR. The polymorphisms were not found to have an allelic or genotypic association with IS. However, responsiveness to ACTH was higher in patients who were homozygous for L (91%) than in those with S/L (56%) or S/S (60%) (P=0.017). Haplotype analysis did not improve the observed association. CONCLUSIONS: The results suggest that the 5-HTTLPR genotype may influence the responsiveness to ACTH. This interpretation deserves further study.

Prenatal stress exposure hypothesis for infantile spasms.

Infantile spasms (IS) are an age-specific epileptic syndrome associated with diverse etiological factors. In recent years, several hypotheses and animal models have been proposed to explain the pathogenesis of IS, but none has elucidated the pathophysiology of IS. In the current case-control study, prenatal stress degree was identified to be higher among the mothers of IS patients than those among the control group. The onset risk of IS increased with the degree of prenatal stress within a certain range. We have recently exposed pregnant rats to forced cold swimming and have given intraperitoneal injection of N-methyl-d-aspartate (NMDA) to rat pups with prenatal stress exposure. Prenatal stress exposure was found to alter the hormonal levels and neurotransmitter receptor expression of developing rats, sensitizing rat pups to develop NMDA-induced spasms and rendering the spasms to be sensitive to adrenocorticotropic hormone therapy. The studies above indicate that prenatal stress plays an important role in the onset of IS. Based on previous hypotheses and the current findings, we propose a prenatal stress exposure hypothesis for IS (also called Zou's hypothesis).

NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population.

AIMS: To test the genetic association of NR3C1 gene which encodes the glucocorticoid receptor with infantile spasms (IS). MAIN METHODS: Nine single nucleotide polymorphisms (SNPs) within the NR3C1 gene were genotyped in a sample set of 128 cases and 131 controls. Association analysis was performed on the genotyped data. KEY FINDINGS: Two SNPs, rs10482672 and rs2963155, showed nominal associations with IS (P=0.018, OR=1.89, 95% CI=1.11-3.22, for rs10482672; P=0.04, OR=1.70, 95% CI=1.03-2.81 for rs2963155) under the assumption of a dominant model. The haplotype TG of two SNPs (rs6877893 and rs4912905) was associated with a decreased risk of IS (P=0.038, OR=0.66, 95% CI=0.45-0.98), whereas haplotype TC being homozygous was associated with an increased risk of IS (P=0.015, OR=2.60, 95% CI=1.20-5.60). The rs6866893 was also associated with the responsiveness of adrenocorticotropic hormone. SIGNIFICANCE: The current experimental results suggest the importance of the NR3C1 gene polymorphism for genetic susceptibility to IS in a Chinese population.

Epigenetic regulation of glucocorticoid receptor and infantile spasms.

IS is one of the few seizure syndromes that can be alleviated by adrenocorticotropic hormone (ACTH) or glucocorticoids (GCs) that are considered effective drugs of choice. This indicates that, indeed, IS may be fundamentally different from most other seizure disorders owing to the dysregulation of the hypothalamic-hypophysial-adrenal axis. GCs have multiple critical effects on fetal development, especially in normal brain development. Most glucocorticoid effects are mediated by the glucocorticoid receptor (GR), a steroid-activated nuclear receptor that translocates to the nucleus upon binding to cortisol. In the nucleus, GR targets genes related to neuronal metabolism and plasticity. The GR has also been characterized as a critical checkpoint in the delicate hormonal control of energy homeostasis. Recent studies suggest a possible correlation between prenatal stress and the onset of infantile spasms. In this paper, we propose a hypothesis that connects the adverse events in early life with the onset of IS through methylation of the GR gene, which is an epigenetic mechanism.

Two decades of battle against polio: opening a window to examine public health in China.

During a two-decade battle against polio, the Chinese government has saved more than one million children from physical disability caused by wild poliovirus infection. Today, the Chinese government still faces an arduous task in (1) preventing the entry and transmission of wild poliovirus from surrounding polio-endemic countries, (2) finding and stopping the outbreak of polio caused by the recycling of vaccine-derived poliovirus, (3) reducing vaccine-associated paralytic poliomyelitis (VAPP) cases, and (4) improving the State compensation system. The scientific monitoring system established in China and the immunity strategy implemented not only allow children in China to avoid lifelong disability or premature death due to polio infection, but also provide success stories for the World Health Organization that can be used for the specification of quality control indices for monitoring polio, classification and diagnosis criteria for acute flaccid paralysis cases, and identification and emergency treatment principles for imported wild poliovirus.