Calling large indels in 1047 Arabidopsis with IndelEnsembler.

Large indels greatly impact the observable phenotypes in different organisms including plants and human. Hence, extracting large indels with high precision and sensitivity is important. Here, we developed IndelEnsembler to detect large indels in 1047 Arabidopsis whole-genome sequencing data. IndelEnsembler identified 34 093 deletions, 12 913 tandem duplications and 9773 insertions. Our large indel dataset was more comprehensive and accurate compared with the previous dataset of AthCNV (1). We captured nearly twice of the ground truth deletions and on average 27% more ground truth duplications compared with AthCNV, though our dataset has less number of large indels compared with AthCNV. Our large indels were positively correlated with transposon elements across the Arabidopsis genome. The non-homologous recombination events were the major formation mechanism of deletions in Arabidopsis genome. The Neighbor joining (NJ) tree constructed based on IndelEnsembler's deletions clearly divided the geographic subgroups of 1047 Arabidopsis. More importantly, our large indels represent a previously unassessed source of genetic variation. Approximately 49% of the deletions have low linkage disequilibrium (LD) with surrounding single nucleotide polymorphisms. Some of them could affect trait performance. For instance, using deletion-based genome-wide association study (DEL-GWAS), the accessions containing a 182-bp deletion in AT1G11520 had delayed flowering time and all accessions in north Sweden had the 182-bp deletion. We also found the accessions with 65-bp deletion in the first exon of AT4G00650 (FRI) flowered earlier than those without it. These two deletions cannot be detected in AthCNV and, interestingly, they do not co-occur in any Arabidopsis thaliana accession. By SNP-GWAS, surrounding SNPs of these two deletions do not correlate with flowering time. This example demonstrated that existing large indel datasets miss phenotypic variations and our large indel dataset filled in the gap.

Integrative analysis of expression profile indicates the ECM receptor and LTP dysfunction in the glioma-related epilepsy.

BACKGROUND: Seizures are a common symptom in glioma patients, and they can cause brain dysfunction. However, the mechanism by which glioma-related epilepsy (GRE) causes alterations in brain networks remains elusive. OBJECTIVE: To investigate the potential pathogenic mechanism of GRE by analyzing the dynamic expression profiles of microRNA/ mRNA/ lncRNA in brain tissues of glioma patients. METHODS: Brain tissues of 16 patients with GRE and 9 patients with glioma without epilepsy (GNE) were collected. The total RNA was dephosphorylated, labeled, and hybridized to the Agilent Human miRNA Microarray, Release 19.0, 8 × 60 K. The cDNA was labeled and hybridized to the Agilent LncRNA + mRNA Human Gene Expression Microarray V3.0, 4 × 180 K. The raw data was extracted from hybridized images using Agilent Feature Extraction, and quantile normalization was performed using the Agilent GeneSpring. P-value < 0.05 and absolute fold change > 2 were considered the threshold of differential expression data. Data analyses were performed using R and Bioconductor. RESULTS: We found that 3 differentially expressed miRNAs (miR-10a-5p, miR-10b-5p, miR-629-3p), 6 differentially expressed lncRNAs (TTN-AS1, LINC00641, SNHG14, LINC00894, SNHG1, OIP5-AS1), and 49 differentially expressed mRNAs play a vitally critical role in developing GRE. The expression of GABARAPL1, GRAMD1B, and IQSEC3 were validated more than twofold higher in the GRE group than in the GNE group in the validation cohort. Pathways including ECM receptor interaction and long-term potentiation (LTP) may contribute to the disease's progression. Meanwhile, We built a lncRNA-microRNA-Gene regulatory network with structural and functional significance. CONCLUSION: These findings can offer a fresh perspective on GRE-induced brain network changes.

[Rehabilitation care for children after trauma in the earthquake disaster].

For the children who suffer trauma in earthquake, rehabilitation care aims to promote functional recovery, shorten hospital stay, and reduce the incidence of complications or disability by evidence-based, multidisciplinary, and comprehensive early rehabilitation intervention on the basis of first aid and clinical treatment. Children are likely to suffer traumatic brain injury, spinal cord injury, peripheral nerve injury, limb fracture, and amputation in the earthquake disaster, so the clinical rehabilitation care designed considering the characteristics of children should be provided immediately after acute phase of trauma to promote functional recovery.

[Expression of dynamin-1 and phosphor-dynamin-1 in the hippocampus of children and rats with mesial temporal lobe epilepsy].

OBJECTIVE: To observe the expression of dynamin-1 and phosphor-dynamin-1 in the hippocampus of children and rats with mesial temporal lobe epilepsy (MTLE) and to investigate the roles of dynamin-1 and phosphor-dynamin-1 in the development of MTLE. METHODS: Male Sprague-Dawley rats (aged 25 days) were randomly divided into acute control (AC), acute seizure (AS), latent control (LC), latent seizure (LS), chronic control (CC) and chronic spontaneous seizure (CS) groups. Lithium chloride-pilocarpine was used to induce a rat model of MTLE. The hippocampus samples of 5 children with a pathologically confirmed hippocampal sclerosis who received surgical operation were collected as a human model (HM) group, and the hippocampus samples of 4 dead children (without organic lesion of the hippocampus) were collected by autopsy as a human control (HC) group. The expression of dynamin-1 and phosphor-dynamin-1 in the hippocampus of children and rats with MTLE was measured by Western blot and immunohistochemistry. RESULTS: The Western blot showed that the expression of phosphor-dynamin-1 was significantly lower in the AS and CS groups than in the corresponding control groups (AC and CC groups) (P<0.05). The expression of phosphor-dynamin-1 was significantly lower in the HM group than in the HC group (P<0.05). There were no significant differences in the expression of dynamin-1 among the AS, LS and CS groups and between the HM and HC groups (P>0.05). The immunohistochemical results showed that phosphor-dynamin-1 was highly expressed in the cytoplasm of hippocampal neurons of AC, CC and HC groups, but its expression was significantly reduced in the AS, CS and HM groups (P<0.05). CONCLUSIONS: The expression of phosphor-dynamin-1, not dynamin-1, is downregulated in the hippocampus of children and rats with MTLE during seizures, which suggests that the phosphorylation/dephosphorylation of dynamin-1 may be involved in the development of MTLE.

Prefrontal activation in response to a plantar contact task under open and closed eye conditions in patients with cerebral infarction.

Objective: This study investigates the effect of a bilateral (paralyzed side, healthy side) plantar contact task on dorsolateral prefrontal activation in patients recovering from cerebral infarction under open and closed eye conditions. Methods: We selected 10 patients with cerebral infarction, admitted to the neurorehabilitation center of Beijing Rehabilitation Hospital, affiliated with Capital Medical University, from January 2019 to July 2020, who met our established criteria. Under open-eye and closed-eye conditions, the paralyzed and healthy sides performed the plantar contact tasks separately. The dorsolateral prefrontal region was monitored simultaneously with functional near-infrared spectroscopy (fNIRS), and activation was analyzed according to the curve-type changes of oxyhemoglobin and deoxyhemoglobin changes in the dorsolateral prefrontal cortex with 560 near-infrared monitoring channels. Results: After stratifying the data based on the eyes-open and eyes-closed conditions, some degree of heterogeneity was observed between the layers. Under the eyes-closed condition, the Pearson χ2 was 0.142, with a p value of 0.706, indicating no significant impact of the eyes-closed condition on the activation of the dorsolateral prefrontal cortex during the plantar task, whether performed on the paralyzed or the healthy side.In contrast, the Pearson χ2 value was 15.15 for the eyes-open condition, with a p value of 0.002. This suggests that carrying out the plantar task, either on the paralyzed or the healthy side, with eyes open significantly influenced the activation of the dorsolateral prefrontal cortex. Furthermore, activation of the dorsolateral prefrontal cortex was 1.55 times higher when the task was executed with the paralyzed side compared to the healthy side. This implies that the paralyzed side was more likely to activate the dorsolateral prefrontal lobe when performing the plantar contact task under eyes-open conditions. Conclusion: Observations via fNIRS revealed that the plantar contact task elicited dorsolateral prefrontal cortex activation. Moreover, the activation effect was intensified when performed on the paralyzed side under eyes-open conditions. Therapeutic methods that leverage these findings-namely cognitive-motor therapies that promote the recovery of motor functions by activating cognitive control brain regions via perception (information construction)-may hold promise.

Metabolic profiles and correlation with surgical outcomes in mesial versus neocortical temporal lobe epilepsy.

AIMS: Differentiating mesial temporal lobe epilepsy (MTLE) and neocortical temporal lobe epilepsy (NTLE) remains challenging. Our study characterized the metabolic profiles between MTLE and NTLE and their correlation with surgical prognosis using 18 F-FDG-PET. METHODS: A total of 137 patients with intractable temporal lobe epilepsy (TLE) and 40 age-matched healthy controls were recruited. Patients were divided into the MTLE group (N = 91) and the NTLE group (N = 46). 18 F-FDG-PET was used to measure the metabolism of regional cerebra, which was analyzed using statistical parametric mapping. The volume of abnormal metabolism in cerebral regions and their relationship with surgical prognosis were calculated for each surgical patient. RESULTS: The cerebral hypometabolism of MTLE was limited to the ipsilateral temporal and insular lobes (p < 0.001, uncorrected). The NTLE patients showed hypometabolism in the ipsilateral temporal, frontal, and parietal lobes (p < 0.001, uncorrected). The MTLE patients showed extensive hypermetabolism in cerebral regions (p < 0.001, uncorrected). Hypermetabolism in NTLE was limited to the contralateral temporal lobe and cerebellum, ipsilateral frontal lobe, occipital lobe, and bilateral thalamus (p < 0.001, uncorrected). Among patients who underwent resection of epileptic lesions, 51 (67.1%) patients in the MTLE group and 10 (43.5%) in the NTLE group achieved Engel class IA outcome (p = 0.041). The volumes of metabolic increase for the frontal lobe or thalamus in the MTLE group were larger in non-Engel class IA patients than Engel class IA patients (p < 0.05). CONCLUSIONS: The spatial metabolic profile discriminated NTLE from MTLE. Hypermetabolism of the thalamus and frontal lobe in MTLE may facilitate preoperative counseling and surgical planning.

Integrated Analysis of Expression Profile and Potential Pathogenic Mechanism of Temporal Lobe Epilepsy With Hippocampal Sclerosis.

Objective: To investigate the potential pathogenic mechanism of temporal lobe epilepsy with hippocampal sclerosis (TLE+HS) by analyzing the expression profiles of microRNA/ mRNA/ lncRNA/ DNA methylation in brain tissues. Methods: Brain tissues of six patients with TLE+HS and nine of normal temporal or parietal cortices (NTP) of patients undergoing internal decompression for traumatic brain injury (TBI) were collected. The total RNA was dephosphorylated, labeled, and hybridized to the Agilent Human miRNA Microarray, Release 19.0, 8 × 60K. The cDNA was labeled and hybridized to the Agilent LncRNA+mRNA Human Gene Expression Microarray V3.0,4 × 180K. For methylation detection, the DNA was labeled and hybridized to the Illumina 450K Infinium Methylation BeadChip. The raw data was extracted from hybridized images using Agilent Feature Extraction, and quantile normalization was performed using the Agilent GeneSpring. P-value < 0.05 and absolute fold change >2 were considered the threshold of differential expression data. Data analyses were performed using R and Bioconductor. BrainSpan database was used to screen for signatures that were not differentially expressed in normal human hippocampus and cortex (data from BrainSpan), but differentially expressed in TLE+HS' hippocampus and NTP' cortex (data from our cohort). The strategy "Guilt by association" was used to predict the prospective roles of each important hub mRNA, miRNA, or lncRNA. Results: A significantly negative correlation (r < -0.5) was found between 116 pairs of microRNA/mRNA, differentially expressed in six patients with TLE+HS and nine of NTP. We examined this regulation network's intersection with target gene prediction results and built a lncRNA-microRNA-Gene regulatory network with structural, and functional significance. Meanwhile, we found that the disorder of FGFR3, hsa-miR-486-5p, and lnc-KCNH5-1 plays a key vital role in developing TLE+HS.

Metabolomics of Artichoke Bud Extract in Spontaneously Hypertensive Rats.

Hypertension adversely affects the quality of life in humans across modern society. Studies have attributed increased reactive oxygen species production to the pathophysiology of hypertension. So far, a specific drug to control the disease perfectly has not been developed. However, artichoke, an edible vegetable, plays an essential role in treating many diseases due to its potent antioxidant activities. The objective of this study is to evaluate the effect of artichoke bud extract (ABE) on heart tissue metabolomics of hypertensive rats. Spontaneously hypertensive rats and Wistar-Kyoto (WKY) rats were divided into six groups, then exposed to different doses comprising ABE, Enalapril Maleate, or 1% carboxylmethyl cellulose for 4 weeks. Their blood pressures were recorded at 0, 2, 3, and 4 weeks after the start of the test period. Thereafter, all rats were anesthetized, and blood was collected from their cardiac apexes. Then, we measured the levels for 15 kinds of serum biochemical parameters. An established orthogonal partial least square-discriminant analysis model completed the metabolomic analysis. Hypertensive rats in the ABE group exhibited well-controlled blood pressure, relative to those in the model group. Specifically, artichoke significantly lowered serum levels for total protein (TP), albumin (ALB), and uric acid (UA) in the hypertensive rats. This effect involved the action of eight metabolites, including guanine, 1-methylnicotinamide, p-aminobenzoic acid, NAD, NADH, uridine 5'-monophosphate, adenosine monophosphate, and methylmalonic acid. Collectively, these findings suggest that ABE may play a role in affecting oxidative stress and purine, nicotinate, and nicotinamide metabolism.

Correction to "Metabolomics of Artichoke Bud Extract in Spontaneously Hypertensive Rats".

[This corrects the article DOI: 10.1021/acsomega.1c01135.].

[Surgical outcomes of pediatric symptomatic epilepsy and their influencing factors].

OBJECTIVE: To investigate the surgical outcomes of pediatric symptomatic epilepsy and the influencing factors for postoperative outcomes. METHODS: A cohort of 48 children with symptomatic epilepsy received surgical treatment from October 2004 to September 2008. The surgical outcomes were followed up. RESULTS: A 27.3 months (range 12-51 months) follow-up was performed in 43 cases. Engel classification for evaluating postoperative epileptic outcomes showed that class I in 32 cases (74%), class II in 4 cases (9%), class III in 4 cases (9%) and class IV in 3 cases (7%). Preoperative seizure frequency is an independent predictor of postoperative epileptic outcomes (P<0.05). CONCLUSIONS: Operative treatment can lead to a favorable result in children with symptomatic epilepsy. Preoperative seizure frequency is an independent influencing factor for postoperative outcomes.

LncRNA NEAT1 affects inflammatory response by targeting miR-129-5p and regulating Notch signaling pathway in epilepsy.

It is crucial to understand the molecular mechanisms involved in epileptogenesis. This study aims to investigate the role of lncRNA NEAT1, miR-129-5p and Notch signaling pathway in epilepsy. In this research, temporal lobe tissues were collected from patients with epilepsy and healthy controls. The CTX-TNA cells were treated with IL-1ß to establish as epilepsy cell model, which were then manipulated the expression level of NEAT1, miR-129-5p and Notch1 to investigate their roles in the epilepsy progression. The expression levels of RNA and protein in temporal lobe tissues and epilepsy cell model were determined by RT-qPCR, western blotting or ELISA, respectively. MTT assay was utilized to analyze the cell viability. Dual-luciferase reporter assay was used to explore the interaction relationship between lncRNA NEAT1, miR-129-5p and Notch1. Silencing NEAT1 significantly reduced the expression levels of IL-6, COX-2 and TNF-α in epilepsy cell model. The overexpression of NEAT1 suppressed the expression level of miR-129-5p. Inhibiting miR-129-5p significantly increased the expression of IL-6, COX-2, TNF-α and Notch1. Furthermore, the expression levels of IL-6, COX-2 and TNF-α were increased after overexpressing Notch1 in miR-129-5p mimics-treated cells. The expression levels of Notch1, JAG1, and HES1 were decreased after transfecting with sh-NEAT1. However, compared with sh-NEAT1 group, the expression levels of Notch1, JAG1, HES1, IL-6 and TNF-α were reversed by miR-129-5p inhibition or Notch1 overexpression. The present study verified that lncRNA NEAT1 affected inflammatory response of epilepsy by suppressing miR-129-5p and further regulating Notch signaling pathway in IL-1ß-induced epilepsy cell model.Abbreviations: CNS: Central nervous system; lncRNAs: Long noncoding RNAs; NEAT1: Nuclear-enriched abundant transcript 1; miRNAs: MicroRNAs; ATCC: American Type Culture Collection; DMEM: Dulbecco's Modified Eagle Medium; FBS: Fetal bovine serum; ELISA: Enzyme-linked immunosorbent assay; RT-qPCR: Reverse transcription-quantitative polymerase chain reaction; SD: Standard deviation; ANOVA: Analysis of variance; LPS: Ligand lipopolysaccharide; GLO1: Glyoxalase I.

The genome of jojoba (Simmondsia chinensis): A taxonomically isolated species that directs wax ester accumulation in its seeds.

Seeds of the desert shrub, jojoba (Simmondsia chinensis), are an abundant, renewable source of liquid wax esters, which are valued additives in cosmetic products and industrial lubricants. Jojoba is relegated to its own taxonomic family, and there is little genetic information available to elucidate its phylogeny. Here, we report the high-quality, 887-Mb genome of jojoba assembled into 26 chromosomes with 23,490 protein-coding genes. The jojoba genome has only the whole-genome triplication (γ) shared among eudicots and no recent duplications. These genomic resources coupled with extensive transcriptome, proteome, and lipidome data helped to define heterogeneous pathways and machinery for lipid synthesis and storage, provided missing evolutionary history information for this taxonomically segregated dioecious plant species, and will support efforts to improve the agronomic properties of jojoba.

Younger age at surgery and lesser seizure frequency as prognostic factors for favorable seizure-related outcome after glioma resection in adults.

The identification of variables predictive of good seizure control following surgical tumor resection in adult glioma patients with tumor-related epilepsy would greatly benefit treatment decisions. Therefore, we analyzed the clinical data of adult patients with tumor-related epilepsy who underwent tumor resection at our institute between November 2011 and August 2013. Patients were divided into seizure-free (Engel Ia) and unfavorable outcome groups (Engel Ib-IV), and potential prognostic factors were analyzed. Of 90 patients, 61 (68%) had a favorable outcome at an average of 3 years after surgery. Our analyses indicated that younger age at surgery (P=0.048) and rare seizure frequency (P=0.006) were associated with significantly more favorable postoperative seizure-related outcomes. In conclusion, younger age at surgery and lesser seizure frequency were independent predictors of favorable epileptic seizure control after glioma resection in adults. Thus, early surgical resection is necessary for achieving favorable seizure outcome.

The molecular classification of astrocytic tumors.

AIM: This study will explore the genetic and epigenetic alterations in astrocytomas, and identify the critical molecular signatures and signaling pathways for prognosis assessment by multiplatform comprehensive analysis. METHOD: We performed integration analyses of incorporating DNA methylation, mRNA expression, microRNA expression, and long non-coding RNA (lncRNA) expression in 33 astrocytic tumor tissues and 9 non-tumor brain tissues. RESULT: We observed that 11,795 DNA methylation sites, 3,627 genes, 136 microRNAs, and 3,334 lncRNAs were significantly differential between tumors and non-tumor brain tissues, and the filtered signatures through comprehensive analysis were significantly enriched in calcium signaling pathway. Furthermore, four signatures involved in calcium signaling pathway and age could contribute to predicting the patients' overall survival. Additionally, we identified differentially expressed signatures between IDH-mutated and IDH wild-type astrocytic tumors, and complement and coagulation cascades pathway was the most significant pathway in functional enrichment analysis using multiplatform data. The IDH wild-type astrocytomas were divided into two subtypes by Cluster of Cluster (CoC) analysis, one of which was enriched for astrocytomas overexpressed in chemokine signaling pathway. CONCLUSION: The calcium signaling pathway played a key role in astrocytoma tumorigenesis and prognosis. IDH mutation was a vital biomarker, and resulted in the change of expression level in complement and coagulation cascades pathway. The chemokine signaling pathway could characterize subtypes of IDH wild-type astrocytomas.

[Mononostril-septum-transsphenoidal approach for pituitary adenoma].

OBJECTIVE: To summarize the mononostril-septum-transsphenoidal approach for pituitary adenoma. METHODS: The clinical features, operative techniques, and outcome of 36 patients with pituitary adenoma were analyzed retrospectively. RESULTS: Tumors were totally removed in 28 cases, and subtotally resected in 8 patients. No patient died after the operation. Endocrine symptom of 31 patients returned to the normal level, the symptom of the other 5 cases were improved. Thirty patients with visual field defects recovered after the operation. Cerebrospinal fluid leakage occurred in one patient, and was cured with conservative treatment in 2 weeks. CONCLUSION: Mononostril-septum-transsphenoidal approach can make use of the natural space of the nasal cavity, which has many advantages, such as direct approach, short operative time, minimal invasion, and few complications. It is a effective transsphenoidal surgical approach.

Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies.

OBJECTIVE: ATP1A2 and ATP1A3 are genes that code for catalytic subunits of Na/K-ATPases, which play important roles in the basal electrophysiological states of nerve cells. The aim of this study was to investigate whether genetic polymorphisms of ATP1A2 and ATP1A3 influence susceptibility to genetic generalized epilepsies (GGEs) and the efficacy of anti-epileptic drugs in a Chinese population. METHOD: Six ATP1A2 tagged single-nucleotide polymorphisms (tagSNPs) and two ATP1A3 tagSNPs were were genotyped by allele-specific MALDI-TOF mass spectrometry in 484 Chinese GGE patients (280 drug-responsive and 204 drug-resistant patients) and 284 healthy controls. RESULTS: Significant differences were found in the frequencies of the ATP1A3 rs8107107 C allele and the CC genotype between the GGEs and the healthy controls (11% vs. 15%, odds ratio (OR)=0.807 (0.68-0.960), p=0.021 and 0.4% vs. 3.2%, OR=0.121 (0.026-0.565), p=0.002, respectively). The frequency of the rs8107107 CT+CC genotype was significantly lower among the GGE patients than among the healthy controls (15% vs. 26.8%, OR=0.327 (0.248-0.942), p=0.001). No significant differences in the frequencies of six ATP1A2 tagSNPs or ATP1A2 haplotypes were found between the GGEs and the healthy controls. No tagSNPs were involved in anti-epileptic drug resistance. CONCLUSION: Our findings demonstrated that common variants of ATP1A3 but not ATP1A2 were associated with the susceptibility to GGEs in a Chinese population, which indicates that the ATP1A3 gene plays a significant role in the pathophysiology of genetic generalized epilepsies.

[Microsurgical treatment for craniopharyngioma combined transorbital-subfrontal and temporal craniotomy].

OBJECTIVE: To summarize the experience in microsurgical removal of craniopharyngioma using combined transorbital-subfrontal and temporal craniotomy. METHODS: Eighteen patients with craniopharyngioma varied from 3.1 cm to 6.2 cm in diameter. The tumor was located in the suprasellar region in 7 patients, extended to the third ventricle in 6, and down to the intrasellar from the suprasellar region in 4, and in the third ventricle in 1. Complete or partial cystic tumor was seen in 13 patients, and solid tumor in 5, and calcified tumor in 12. All the patients were operated on via combined transorbital subfrontal and temporal approach. The tumor was dissected in the spaces I, II and IV with great attention to the preservation of the perforating arteries from the carotid, posterior communication and anterior choroidal arteries to the structure of the hypothalamus. The solid portion of the tumor was removed by piecemeal. RESULTS: The tumor was totally removed in 14 patients and subtotally in 4. Postoperation, follow-up for 8 to 41 months showed no change in 3 residual tumors and one lost to follow-up. All patients Postoperative Karnofsky scales showed 80 - 90, in 12 patients, 60 - 70 in 5 patients, and 50 in 1. CONCLUSIONS: Combined transorbital-subfrontal and temporal approach can provide an excellent exposure to the sellar region, craniopharyngioma and its surrounding structures. This approach ensures less cerebral retraction for easy access to craniopharyngioma, including other large neoplasm of the middle cranial base with ventricle or posterior cranial base extension. Microsurgical techniques play an important role in removing tumor and preserving hypothalamic function.

Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population.

AIMS: The causes of genetic generalized epilepsies (GGEs) are still uncertain now. Some studies found that the human potassium channel, subfamily T, member 1 (KCNT1) is the candidate gene causing malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy which are all rare genetic generalized epilepsies. The aims of this study were going to evaluate the association between KCNT1 common variations and the susceptibility and drug resistance of genetic generalized epilepsies in Chinese population. METHODS: The allele-specific MALDI-TOF mass spectrometry method was used to assess 17 tagSNPs (tagged single-nucleotide polymorphisms) of KCNT1 in 284 healthy Chinese controls and 483 Chinese GGEs patients including 279 anti-epileptic drug-responsive patients and 204 drug-resistant patients. RESULTS: Genotype distributions of all the selected tagSNPs were consistent with Hardy-Weinberg equilibrium in GGEs and healthy controls. None of the all 17 tagSNPs alleles were found to be related with the susceptibility and drug resistance of genetic generalized epilepsies. The frequencies of haplotype 5 and haplotype 1 were significantly lower in GGEs than that in healthy controls (2% vs. 4%, OR = 0.47 [0.27-0.94], P = 0.03) and obviously higher in drug-resistant patients than that in drug-response patients (6% vs. 3%, OR = 2.56 [1.23-5.35], P = 0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the above two haplotypes were not associated with the susceptibility and drug resistance in GGEs and healthy controls. CONCLUSION: This gene-wide tagging study revealed no association between KCNT1 17 common variations and susceptibility of GGEs or AEDs (anti-epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population.

The expression of moesin in astrocytoma: correlation with pathologic grade and poor clinical outcome.

Moesin, a member of the ERM family, acts as a linker between the actin cytoskeleton and the plasma membrane and plays a key role in the control of cell morphology, motility, adhesion and other processes of tumourigenesis. The expression pattern and clinical significance of moesin in astrocytoma remain unknown. In this study, we used RT-PCR to systematically investigate the expression of moesin in 49 astrocytomas of different pathological grade and 6 normal brain tissues. We found that the mRNA expression levels of moesin in astrocytomas were significantly higher in comparison with normal brain tissues. Furthermore, moesin up-regulation was correlated with pathological grade of astrocytomas. Subsequently, we tested 112 astrocytomas and 14 normal brain tissues by immunohistochemistry. Similar results were also confirmed. Univariate and multivariate survival analysis were used to determine the correlations of moesin expression with overall survival and progression-free survival. Our results showed the expression of moesin was strongly negatively correlated with the patient progression-free survival and overall survival. These results suggest moesin protein involved in the genesis and progression of astrocytomas and might be regarded as an independent predictor of poor prognosis.

[Characteristics of nitrogen removal in SBR for the mature landfill leachate treatment].

Characteristics of biological nitrogen removal for the treatment of a mature landfill leachate with a 1200 m3 sequencing batch reactor (SBR) was investigated. The results indicate that obvious enhancement of nitrogen removal in the SBR treating landfill leachate was obtained by adding fecal supernatant to modulate the C/N ratio. The total nitrogen (TN) removal efficiency was found high up to 82.62% during day 112 to day 136, with an effluent of TN < or =190 mg x L(-1), COD < or =400 mg x L(-1). An equilibrium state of various nitrogen compounds removal reactions was achieved, and subsequently the ratio of BOD5 to TN maintained approximately at 1.43. In the equilibrium phase, by monitoring the cyclic variations of the nitrogenous compounds and sulphate in the reactor, a simultaneous proportional NH4+ -N and SO4(2-) removal was observed in the agitation and recirculation stage, and up to 27.06% of NH4+ -N and 76.17% of SO4(2-) removal was found. Simultaneous nitrification and denitrification and simultaneous removal of nitrogen and sulphate were exsited. The quantification of nitrogenous compounds removal reactions in the reactor was also conducted, and the calculation shows that the heterotrophic denitrification, simultaneous nitrification and denitrification, assimilation, simultaneous removal of nitrogen and sulphate, and endogenous respiration denitrification which are responsible for the TN removal are 62.6%, 33.8%, 7.0%, > 26.1%, and 2.7% respectively.