PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.

BACKGROUND: The PACS gene family has been demonstrated to be related to intracellular vesicular trafficking. The phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy, intellectual disability/developmental delay, and malformations, such as facial abnormalities. METHODS: We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation sequencing. Detailed information obtained from these patients was analyzed along with that obtained from previously reported patients. RESULTS: With the inclusion of the newly diagnosed cases in this study, 103 cases with PACS gene family-related neurological diseases were reported, of which 43 were PACS2-related cases and the remaining were PACS1-related cases. Most patients had seizures, which have been reported to be effectively controlled by several types of anti-seizure medications (ASMs). The most efficacious and frequently prescribed ASMs included sodium valproate (43.3%, 13/30), oxcarbazepine/carbamazepine (26.7%, 8/30), and levetiracetam (20%, 6/30). Almost all patients had intellectual disability/developmental delay. The most common pathogenic missense variants were PACS1 p. Arg203Trp and PACS2 p.Glu209Lys. In addition, we report a patient carrying a likely pathogenic copy number variation (CNV) (de novo heterozygous deletion of chr14:105821380-106107443, 286 kilobase, destroyed part of the furin-binding region domain and the protein structure after it) with more severe and refractory late-onset epilepsy. CONCLUSIONS: The clinical phenotypes of the different PACS heterozygous missense variants were similar. The pathogenic variant sites of PACS1 and PACS2 were quite limited but located in different regions. A CNV destroying part of the PACS2 gene might also be pathogenic. These findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family. Video Abstract (MP4 65767 kb).

Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

OBJECTIVE: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism. METHODS: Patients with SeLECTS were divided into an untreated group and a monotherapy group, and the third group was a healthy control group. We determined the levels of various biochemical markers of bone metabolism, including procollagen type I nitrogenous propeptide (PINP), alkaline phosphatase (ALP), osteocalcin (OC), collagen type I cross-linked C-telopeptide (CTX), calcium, magnesium, phosphorus, parathyroid hormone (PTH), and vitamin D3 (VD3 ). RESULTS: A total of 1487 patients (from 19 centers) were diagnosed with SeLECTS; 1032 were analyzed, including 117 patients who did not receive any ASMs (untreated group), 643 patients who received only one ASM (monotherapy group), and 272 children in the healthy control group. Except for VD3 , other bone metabolism of the three groups were different (p < .001). Bone metabolism was significantly lower in the untreated group than the healthy control group (p < .05). There were significant differences between the monotherapy and healthy control group in the level of many markers. However, when comparing the monotherapy and untreated groups, the results were different; oxcarbazepine, levetiracetam, and topiramate had no significant effect on bone metabolism. Phosphorus and magnesium were significantly lower in the valproic acid group than the untreated group (adjusted p < .05, Cliff's delta .282-.768). CTX was significantly higher in the lamotrigine group than in the untreated group (adjusted p = .012, Cliff's delta = .316). SIGNIFICANCE: Epilepsy can affect many aspects of bone metabolism. After controlling epilepsy and other confounders that affect bone metabolism, we found that the effects of ASMs on bone metabolism differed. Oxcarbazepine, levetiracetam, and topiramate did not affect bone metabolism, and lamotrigine corrected some of the abnormal markers of bone metabolism in patients with epilepsy.

Risk prediction of second primary malignant tumor in primary differentiated thyroid cancer patients: a population-based study.

PURPOSE: To investigate the risk factors of second primary malignant tumor (SPMT) in patients with differentiated thyroid cancer (DTC) and establish a competing risk nomogram to predict the probability of SPMT occurrence. METHODS: We retrieved data from the Surveillance, Epidemiology, and End Results (SEER) database for patients diagnosed with DTC between 2000 and 2019. The Fine and Gray subdistribution hazard model was employed to identify SPMT risk factors in the training set and develop a competing risk nomogram. Model evaluation was performed using area under the receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis (DCA). RESULTS: A total of 112,257 eligible patients were included in the study and randomized into a training set (n = 112,256) and a validation set (n = 33,678). The cumulative incidence rate of SPMT was 15% (n = 9528). Age, sex, race, tumor multifocality, and TNM stage were independent risk factors of SPMT. The calibration plots showed good agreement between the predicted and observed SPMT risks. The 10-year AUCs of the calibration plots were 70.2 (68.7-71.6) in the training set and 70.2 (68.7-71.5) in the validation set. Moreover, DCA showed that our proposed model resulted in higher net benefits within a defined range of risk thresholds. The cumulative incidence rate of SPMT differed among risk groups, classified according to nomogram risk scores. CONCLUSION: The competing risk nomogram developed in this study exhibits high performance in predicting the occurrence of SPMT in patients with DTC. These findings may help clinicians identify patients at distinct levels of risk of SPMT and develop corresponding clinical management strategies.

Flexible Wearable Electronic Fabrics with Dual Functions of Efficient EMI Shielding and Electric Heating for Triboelectric Nanogenerators.

Traditional conductive fabrics are prepared by the synthesis of conductive polymers and the coating modification of metals or carbon black conductive materials. However, the conductive fabrics cause a significant decline in performance after washing or mechanical wear, which limits their application. Moreover, the single function of the traditional conductive fabric is also the reason that limits its wide application. In order to prepare a wearable, stable, high-performance, washable, multifunctional conductive fabric, we have carried out related research. In this work, polydopamine was used as a bonding layer, an adsorption reduction layer, and a protective layer to improve the bonding between silver nanoparticles and carbon nanotubes (CNTs) on the polyester fabric surface so as to prepare a multifunctional conductive fabric with a high-stability "sandwich" structure, in which a Ag-NPS@CNT structure acting as an intermediate conductive layer formed on the inner layer PDA@CNT by electroless silver plating and the outermost layer PDA@CNT coated on the surface of the intermediate conductive layer by the impregnation-drying method. The sheet resistance of an E-Fabric can reach 2.11 Ω/□ due to the uniform and dense conductive path formed by the special structure Ag-NPs@CNT. At a low voltage of 1.5 V, the E-Fabric can reach 117 °C in 50 s and remain stable. The electrical conductivity and current heating properties of the E-Fabric remain good even after multiple washing or bending tests. Due to its stable and outstanding electrical conductivity, the E-Fabric has an electromagnetic shielding efficiency (SET) of 35.3 dB in the X-band (8.2-12.4 GHz). In addition, E-Fabric-based spin-coated poly(methyl methacrylate) or polydimethylsiloxane electrodes exhibit excellent performance in nanogenerators. Through the low-frequency friction of the human body, transient voltages up to 4 V can be generated from a 2 cm × 2 cm electrode sample. The output power of a single generator can reach about 12 nW/cm2. Therefore, an E-Fabric is considered to have great potential in the fields of electric heating, electromagnetic shielding, and smart wearable devices.

Facile Fabrication of Highly Stable and Wavelength-Tunable Tin Based Perovskite Materials with Enhanced Quantum Yield via the Cation Transformation Reaction.

Metal halide perovskites have attracted great attention for their superior light energy conversion applications. Herein, we demonstrated a facile synthesis of zero-dimensional Sn2+ perovskite Cs4-xMxSnBr6(M = K+ and Rb+) material through the cation transformation reaction at room temperature. Cs4SnBr6 NCs was mixed with pure metal bromide salts (KBr and RbBr) via the mechanochemical process to successfully synthesize Cs4-xMxSnBr6 perovskite where transformation of Cs to mixed Cs/Rb and mixed Cs/K was achieved. By substituting different cations, the bright fluorescence of the Cs4-xMxSnBr6 was tuned from dim green to greenish-cyan while achieving the photoluminescence (PL) quantum yield of ∼39%. The crystal structure of Sn based perovskite with the substitution of K+ or Rb+ cations was determined by X-ray diffraction (XRD). Moreover, the Cs4-xMxSnBr6 demonstrated superior air stability and exhibited a better photocatalytic activity for CO2 reduction reaction (CO2RR) with high selectivity of CH4 gas with a higher yield rate compared to the pristine Cs4SnBr6 NCs.

M2­like tumour­associated macrophage­secreted IGF promotes thyroid cancer stemness and metastasis by activating the PI3K/AKT/mTOR pathway.

M2­like tumour­associated macrophages (TAMs) have been demonstrated to promote the growth of anaplastic thyroid carcinoma (ATC). However, the underlying mechanism of M2­like TAMs in ATC remains unclear. Thus, in the present study, the role and mechanism of M2­like TAMs in ATC were investigated. M2­like TAMs were induced by treatment with PMA, plus IL­4 and IL­13, and identified by flow cytometry. Transwell and sphere formation assays were applied to assess the invasion and stemness of ATC cells. The expression levels of insulin­like growth factor (IGF)­1 and IGF­2 were examined by ELISA and reverse transcription­quantitative PCR. Proteins related to the epithelial­mesenchymal transition (EMT), stemness and the PI3K/AKT/mTOR pathway were examined via western blotting. Immunohistochemistry (IHC) was used to detect the expression of the M2­like TAM markers CD68 and CD206 in ATC tissues and thyroid adenoma tissues. It was found that treatment with PMA plus IL­4 and IL­13 successfully induced M2­like TAMs. Following co­culture with M2­like TAMs, the invasive ability and stemness of ATC cells were significantly increased. The expression levels of the EMT­related markers N­cadherin and Vimentin, the stemness­related markers Oct4, Sox2 and CD133, and the insulin receptor (IR)­A/IGF1 receptor (IGF1R) were markedly upregulated, whereas E­cadherin expression was significantly decreased. In addition, the production of IGF­1 and IGF­2 was significantly increased. Of note, exogenous IGF­1/IGF­2 promoted the invasion and stemness of C643 cells, whereas blocking IGF­1 and IGF­2 inhibited metastasis and stemness by repressing IR­A/IGF­1R­mediated PI3K/AKT/mTOR signalling in the co­culture system. IHC results showed that the expression of CD68 and CD206 was obviously increased in ATC tissues. To conclude, M2­like TAMs accelerated the metastasis and increased the stemness of ATC cells, and the underlying mechanism may be related to the section of IGF by M2­like TAMs, which activates the IR­A/IGF1R­mediated PI3K/AKT/mTOR signalling pathway.

Zoledronic acid inhibits thyroid cancer stemness and metastasis by repressing M2-like tumor-associated macrophages induced Wnt/ß-catenin pathway.

AIMS: This study aims to explore the effect and underlying mechanism of zoledronic acid (ZA) on the incidence of thyroid cancer (TC) tumorigenesis. MATERIALS AND METHODS: Human mononuclear cells THP-1 were differentiated into M2-like tumor associated macrophages (TAMs) by incubation with PMA followed by additional incubation of IL-4 and IL-13. TC cells TPC-1 and IHH4 were co-cultured with M2-like TAMs. Identification of M2-like TAMs markers were determined by immunohistochemistry or flow cytometry. Cell proliferation, stemness and migration/invasion ability were measured by colony, sphere formation assay and transwell assay, respectively. The expression levels of cell stemness, EMT and Wnt/ß-catenin pathway-related factors were verified by qRT-PCR, Western blotting, and immunofluorescence. A subcutaneous tumor model was established in nude mice to examine the in vivo effects of ZA. KEY FINDINGS: M2-like TAMs were enriched in TC tissues, and they promoted the colony/sphere formation, accompanied with a down-regulated expression in E-cadherin and an up-regulated expression in N-cadherin, Vimentin and other stemness-associated markers (CD133, Oct4, c-Myc) in TC cells. The effects were suppressed when ZA co-treatment was given, because ZA inhibited the polarization of M2-like TAMs and ß-catenin entry into the nucleus. Moreover, in agreement with in vitro data, ZA also limited subcutaneous tumor formation and macrophage enrichment in nude mice. SIGNIFICANCE: ZA suppressed M2-like TAMs induced TC cell proliferation, stemness and metastasis through inhibiting M2-like TAMs polarization and Wnt/ß-catenin pathway, which sheds light on the mechanisms of TC and provides avenues for the development of clinical therapy to TC.

Clinical characteristics of two cohorts of infantile spasms: response to pyridoxine or topiramate monotherapy.

BACKGROUND: Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate monotherapy (TPM control IS). METHODS: The clinical manifestations, treatment processes and outcomes were analyzed in 11 pyridoxine responsive IS and 17 TPM-control IS. RESULTS: Of the 11 patients with pyridoxine responsive IS, nine were cryptogenic/idiopathic. Age of seizure onset was 5.36 ± 1.48 months. Spasms were controlled within a week in most of the patients. At the last follow-up, EEG returned to normal in 8. Psychomotor development was normal in 6, mild delay in 3, severe delay in 2. Of the 17 patients with TPM-control IS, 10 were cryptogenic/idiopathic. The age of seizure onset was 5.58 ± 2.09 months. All patients were controlled within a month. At the last follow-up, EEG was normal in 10. Psychomotor development was normal in 8, mild delay in 5, severe delay in 4. Genetic analysis did not show any meaningful results. CONCLUSIONS: The clinical characteristics and disease courses of pyridoxine responsive IS and TPM-control IS were similar, which possibly clued for a same pathogenic mechanism. Pyridoxine should be tried first in all IS patients, even in symptomatic cases. If patients were not responsive to pyridoxine, TPM could be tried.

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it is only responsible for approximately half of affected individuals, indicating that other loci are most likely involved in the etiology of this disorder. To explore the underlying causative gene of PRRT2-negative PKD, we used a combination strategy including linkage analysis, whole-exome sequencing and copy number variations analysis to detect the genetic variants within a family with PKD. We identified a linkage locus on chromosome 12 (12p13.32-12p12.3) and detected a novel heterozygous mutation c.956 T>G (p.319 L>R) in the potassium voltage-gated channel subfamily A member 1, KCNA1. Whole-exome sequencing in another 58 Chinese patients with PKD who lacked mutations in PRRT2 revealed another novel mutation in the KCNA1 gene [c.765 C>A (p.255 N>K)] within another family. Biochemical analysis revealed that the L319R mutant accelerated protein degradation via the proteasome pathway and disrupted membrane expression of the Kv1.1 channel. Electrophysiological examinations in transfected HEK293 cells showed that both the L319R and N255K mutants resulted in reduced potassium currents and respective altered gating properties, with a dominant negative effect on the Kv1.1 wild-type channel. Our study suggests that these mutations in KCNA1 cause the Kv1.1 channel dysfunction, which leads to familial PKD. The current study further extended the genotypic spectrum of this disorder, indicating that Kv1.1 channel dysfunction maybe one of the underlying defects in PKD.

[Microbial and physiological mechanisms for alleviating fusarium wilt of faba bean in intercropping system.] / é—´ä½œå‡è½»èš•è±†æž¯èŽç— çš„å¾®ç”Ÿç‰©å’Œç”Ÿç†æœºåˆ¶.

A field trial was conducted to investigate effects of wheat and faba bean intercropping on incidence and index of fusarium wilt, amount of Fusarium oxysporum of faba bean, oxidase activity and membrane peroxidation of faba bean roots. Functional diversity of microbial community in rhizosphere soil of faba bean was analyzed by using Biolog microbial analysis system, contents of pheno-lic acids in faba bean rhizosphere soil were determined with high performance liquid chromatography (HPLC). Results showed that in comparison with that of monocropped faba bean, wheat and faba bean intercropping tended to reduce the incidence and disease index of faba bean. The fusarium wilt was significantly decreased by 15.8% and 22.8% during the peak infection and late infection stages, and the average well color development (AWCD value) was promoted obviously. The Shannon diversity (H) and richness (S) increased by 4.4% and 19.4% during the peak infection stage and 5.3% and 37.1% during the late infection stage, respectively. Principal component analysis demonstrated that intercropping significantly changed the rhizospheric microbial community composition. The amount of F. oxysporum in rhizosphere soil of intercropped faba bean was significantly decreased by 53.8% and 33.1%, respectively, during the peak infection and late infection stages, and contents of 4-hydroxy benzoic acid, vanillic acid, syringic acid, ferulic acid, benzoic acid and cinnamic acid also significantly decreased, peroxidase (POD), catalases (CAT) activities in roots of intercropped faba bean increased significantly by 20.0% and 31.3%, respectively during the peak infection stage and 38.5% and 66.7% respectively during the late infection stage, and the malondialdehyd (MDA) content decreased significantly by 36.3% and 46.3%, respectively during peak infection stage and late infection stage. It was concluded that wheat with faba bean intercropping could significantly promote the soil microbial activity and diversity, reduce the accumulation of phenolic allelochemicals and the amount of F. oxysporum in rhizosphere soil, increase the activities of CAT and POD, reduce MDA content in roots, and thus promote the resistance of faba bean to F. oxysporum infection.

[Rhizosphere microbial impacts of alleviating faba bean Fusarium wilt with inoculating AM fungi]. / AMçœŸèŒæŽ§åˆ¶èš•è±†æž¯èŽç— å‘ç”Ÿçš„æ ¹é™ å¾®ç”Ÿç‰©æ•ˆåº”.

Greenhouse pot trials were conducted to investigate the effects of arbuscular mycorrhizal fungus (Glomus mosseae, Glomus tortuosum, Glomus intraradices and Glomus etunicatum) inoculation on the seedling growth, occurance of Fusarium wilt, population of Fusarium oxysporum and rhizosphere microbial community functional diversity in faba bean rhizosphere soil. Results showed that after inoculation of G. mosseae, G. tortuosum, G. intraradices and G. etunicatum, the shoot and root fresh mass of faba bean seedlings increased significantly, the disease index of faba bean fusarium wilt decreased significantly by 94.0%, 60.0%, 64.0% and 94.0%, respectively, the amount of F. oxysporum of faba bean rhizosphere decreased significantly by 98.6%, 74.3%, 77.8% and 90.4%, respectively. The best inhibitory effects to Fusarium wilt were with G. mosseae and G. etunicatum treatments. Inoculation of G. mosseae, G. tortuosum and G. etunicatum significantly increased carbon sources utilization ability of carbohydrates, amino acids, carboxylic acids and phenolic acids, with the average well color development (AWCD) value being increased by 34.4%, 31.5% and 50.8% respectively, but such significant differences were not observed with inoculation of G. intraradice. Principal component analyses showed that inoculation of G. mosseae, G. tortuosum and G. etunicatum fungi changed the rhizospheric microbial community composition. Correlation analyses showed that the utilization of carbohydrates carbon sources (ß-Methyl-D-glucoside, D-Galacturonic acid, D-Mannitol, N-Acetyl-D-Glucosamine, D-Cellobiose,) and carboxylic acids carbon sources (D-Galactonic acid-γ-Lactone) were significantly increased after inoculation of G. tortuosum, and the utilization of L-Arginine and 4-Hydroxy benzoic acid significantly increased after inoculation of G. mosseae and G. etunicatum. Carbohydrates, carboxylic acids were main carbon sources utilized by rhizosphere microbes after G. tortuosum and G. intraradices inoculation, and amino acids and phenolic acids were main carbon sources utilized by rhizosphere microbes after G. mosseae and G. etunicatum inoculation. Inoculation of AM fungi significantly increased the activities of rhizosphere microbes, changed soil microbe community functional diversity, and thus inhibited the growth of F. oxysporum. The inhibitory impacts of AM fungi inoculations depended on the changes of microbes utilizing carbon sources.

[Faba bean fusarium wilt (Fusarium oxysporum )control and its mechanism in different wheat varieties and faba bean intercropping system].

Field experiment and hydroponic culture were conducted to investigate effects of three wheat varieties (Yunmai 42, Yunmai 47 and Mianyang 29) and faba bean intercropping on the shoot biomass, disease index of fusarium wilt, functional diversity of microbial community and the amount of Fusarium oxysporum in rhizosphere of faba bean. Contents and components of the soluble sugars, free amino acids and organic acids in the root exudates were also examined. Results showed that, compared with monocropped faba bean, shoot biomass of faba bean significantly increased by 16.6% and 13.4%, disease index of faba bean fusarium wilt significantly decreased by 47.6% and 23.3% as intercropped with Yunmai 42 and Yunmai 47, but no significant differences of both shoot biomass and disease index were found as intercropped with Mianyang 29. Compared with monocropped faba bean, the average well color development (AWCD value) and total utilization ability of carbon sources of faba bean significantly increased, the amount of Fusarium oxysporum of faba bean rhizosphere significantly decreased, and the microbial community structures of faba bean rhizosphere changed as intercropped with YM42 and YM47, while no significant effects as intercropped with MY29. Total contents of soluble sugar, free amino acids and organic acids in root exudates were in the trend of MY29>YM47>YM42. Contents of serine, glutamic, glycine, valine, methionine, phenylalanine, lysine in root exudates of MY29 were significantly higher than that in YM42 and YM47. The arginine was detected only in the root exudates of YM42 and YM47, and leucine was detected only in the root exudates of MY29. Six organic acids of tartaric acid, malic acid, citric acid, succinic acid, fumaric acid, t-aconitic acid were detected in root exudates of MY29 and YM47, and four organic acids of tartaric acid, malic acid, citric acid, fumaric acid were detected in root exudates of YM42. Malic acid content in root exudates of YM47 and MY29 was significantly higher than that of YM42. In conclusion, intercropping influenced the microbial activity and substrate utilization of soil microorganisms, altered the microbial community diversity in rhizosphere of faba bean, reduced the amount of F. oxysporum and disease index of faba bean fusarium wilt, and promoted faba bean growth. Effects of intercropping on disease control were influenced by the intercropped wheat variety, suggesting that the differences of root exudates of wheat were important factors that affected soil-borne diseases control in intercropping.

Efficacy of levetiracetam in electrical status epilepticus during sleep of children: a multicenter experience.

BACKGROUND: Electrical status epilepticus during sleep is characterized by epilepsy, a specific electroencephalographic pattern, and neuropsychological impairment. This study aims to evaluate the efficacy and safety of levetiracetam in treating children with electrical status epilepticus during sleep. METHODS: A multicenter, retrospective, open-label study enrolled 73 children (mean age: 8 years) affected by electrical status epilepticus during sleep. The efficacy was rated according to the seizure frequency and electroencephalography response. RESULTS: After a mean treatment period of 19 months (range: 6 to 24 months), 33 (63.5%) of 52 patients became seizure-free or had experienced remarkable reduction in seizures. The electrical status epilepticus of 41 (56.2%) of 73 patients disappeared off their electroencephalography. The electroencephalography efficacy of levetiracetam treatment was noted in the monotherapy (61.9%) and add-on (53.9%) groups. The clinical (67.7%) and electroencephalography (64.3%) response rates of the idiopathic group were better than those of the symptomatic group (57.1% and 45.2%, respectively). No patient discontinued the trial because of intolerability of side effects. CONCLUSIONS: Levetiracetam is effective in individuals with electrical status epilepticus during sleep with tolerable side effects.

[Diagnosis and treatment of epilepsy and narcolepsy comorbid].

OBJECTIVE: To analyze the clinical diagnosis and treatment process of narcolepsy and epilepsy co-existence, and thereby to improve awareness of such cases. METHOD: The clinical manifestations of 2 cases were observed, and video-electroencephalogram (VEEG), multiple sleep latency tests (MSLT) were performed. Hypocretin 1 level in cerebrospinal fluid was examined in one case. RESULT: The onset of disease of case one was started with epilepsy with myoclonic seizure. After half a year, catalepsy induced by emotion especially laughing and excessive daytime sleepiness appeared. MSLT was positive and hypocretin 1 level decreased. Narcolepsy-cataplexy was definitely diagnosed in this case. Valproate was given and seizure was controlled completely, but the excessive daytime sleepiness was aggravated. Combination of valproate, methylphenidate and clomipramine treatment improved the symptoms of narcolepsy and the patient was still free of epileptic seizures. The onset symptoms of case 2 were catalepsy and excessive daytime sleepiness. MSLT was positive. The treatment was ineffective because of bad compliance. After 2 years, episodes of impairment of consciousness with automatism occurred. VEEG showed slow waves and spikes in right temporal area. Complex partial seizure was determined. Oxcarbazepine was used and then the patients became seizures free, but the symptoms of narcolepsy were still obvious. CONCLUSION: Comorbidity of narcolepsy and epilepsy is a rare phenomenon. Clinical symptoms, predisposing factor, VEEG and MSLT can help diagnosis and differential diagnosis. The antiepileptic drugs might aggravate drowsiness. Based on therapy of epilepsy by using antiepileptic drugs, low dosage of central nervous system stimulants might improve the drowsiness and catalepsy symptoms of narcolepsy.

[Effects of nitrogen application rate on faba bean fusarium wilt and rhizospheric microbial metabolic functional diversity].

A field plot experiment was conducted to study the effects of different nitrogen (N) application rates on the microbial functional diversity in faba bean rhizosphere and the relationships between the microbial functional diversity and the occurrence of faba bean fusarium wilt. Four nitrogen application rates were installed, i. e. , N0(0 kg hm-2 , N1 (56. 25 kg hm-2) , N2(112. 5 kg hm-2), and N3 (168.75 kg hm-2), and Biolog microbial analysis system was applied to study the damage of faba bean fusarium wilt and the rhizospheric microbial metabolic functional diversity. Applying N (N1 N2, and N3) decreased the disease index of faba bean fusarium wilt and the quantity of Fusarium oxysporum significantly, and increased the quantities of bacteria and actinomyces and the ratios of bacteria/fungi and actinomyces/fungi significantly, with the peak values of bacteria and actinomyces, bacteria/fungi, and actinomyces/fungi, and the lowest disease index and F. oxysporum density in N2. As compared with N0, applying N increased the AWCD value significantly, but the effects of different N application rates on the ability of rhizospheric microbes in utilizing six types of carbon sources had definite differences. Under the application of N, the utilization rates of carbohydrates, carboxylic acids, and amino acids by the rhizospheric microbes were higher. Principal component analysis demonstrated that applying N changed the rhizospheric microbial community composition obviously, and the carbohydrates, carboxylic acids, and amino acids were the sensitive carbon sources differentiating the changes of the microbial community induced by N application. Applying N inhibited the utilization of carbohydrates and carboxylic acids but improved the utilization of amino acids and phenolic acids by the rhizospheric microbes, which could be one of the main reasons of applying N being able to reduce the harm of faba bean fusarium wilt. It was suggested that rationally applying N could increase the quantities of rhizospheric bacteria and actinomyces, alter the microbial metabolic function, and decrease F. oxysporum density, being an effective measure to control the occurrence of faba bean fusarium wilt.

[Clinical and electroencephalographic characteristics of Jeavons syndrome].

OBJECTIVE: The study was designed to examine the clinical and electroencephalographic characteristics of children with Jeavons syndrome. METHOD: Video-electroencephalography (VEEG) monitoring was carried out in 9 patients with Jeavons syndrome. The clinical and electroencephalographic characteristics, treatment and prognoses were analyzed. RESULT: Of the 9 patients, 8 were female, and 1 was male. The onset age of children with eyelid myoclonia (EM) was from 3 to 9 years old. It was obtained through the chief complaint, prosecution or VEEG monitoring. Three cases were misdiagnosed and 2 cases were overlooked initially. Seven out of 9 patients had generalized tonic clonic seizures (GTCS) during the course of disease, of whom 5 experienced only one episode. GTCS was the cause for the first visits to hospital in 5 patients. Since the clinical manifestations of EM with or without absence were often slight, VEEG monitoring with eye closure and intermittent photic stimulation tests helped to induce discharges and seizures. Eye closure was more potent than intermittent photic stimulation as a triggering factor. Ictal EEG showed 3 - 6 Hz generalized spike and waves and polyspikes burst. The main treatment option was valproate monotherapy (6 cases) or combined with other antiepileptic drugs (1 case). Levetiracetam, lamotrigine and topiramate were also used in patients and effective to some degree. Two patients lost follow up. The age of 7 patients at follow-up ranged from 9 y to 15 y. Seizures were controlled in 1 case, suspiciously controlled in 1 case, decreased in frequency in 4 cases and were still frequent in 1 case. During follow-up, normal intelligence was found in the former 2 cases, difficult learning in 2 cases, and slightly intellectual impairment in 2 cases. CONCLUSION: Jeavons syndrome is one of the idiopathic generalized epilepsies characterized by EM with or without absence. The age of seizure onset might be difficult to be exactly established, as EM was often misinterpreted and overlooked initially. Clinical history combined with VEEG monitoring with eye closure and intermittent photic stimulation tests could diagnose this disease. Valproate and other new antiepileptic drugs were effective for this disease. Jeavons syndrome is a lifelong disorder. Seizures sometimes could be well controlled. When seizures were resistant to treatment, cognitive and intellectual impairment might occur.

[Electroclinical features of myoclonic-atonic epilepsy].

OBJECTIVE: To summarize the electroclinical characteristics of myoclonic atonic epilepsy (MAE) in children. METHOD: The clinical data, video electroencephalogram (EEG) and simultaneous electromyography (EMG) of MAE patients were analyzed. The treatment and its effects were followed up. RESULT: In 47 MAE patients, 25 had a history of febrile seizures (FS), 20 had a family history of FS or epilepsy. All patients had a normal development before the illness. The age of afebrile seizure onset was between 1.4 years to 5.8 years. The first seizure was generalized tonic-clonic seizure (GTCS) in 41 patients (87.2%). All patients had multiple seizure types, including 47 GTCS (97.9%), 34 myoclonic atonic seizures (72.3%), 47 myoclonic seizures (100%), 32 atonic seizures (68.1%), 36 atypical absences (76.6%) and 3 tonic seizures (6.4%). EEG backgrounds were slow or parietal θ rhythm, interictal EEG showed 1-4 Hz (predominant 2-3 Hz) generalized spike and wave or poly spike and wave discharges in all cases. Seizures were controlled by antiepileptic drugs (AEDs) in 41 patients (87.2%). Valproate was used in 37. Lamotrigine was used in 26. Mild mental retardation was observed in 10 children after the onset of the illness. CONCLUSION: The clinical features of MAE included the following: the development was normal before the onset of the illness; the onset of seizure type was often GTCS. All patients had multiple generalized seizure types. Myoclonic atonic seizure was its characteristic seizure type. EEG showed generalized discharges. Early diagnosis and rational choice of AEDs are important for getting a better prognosis.

[Relationship between HBeAg seroconversion with genotypes and HBV specific CTL in patients with chronic hepatitis B treated with Adefovir dipivoxil].

OBJECTIVE: To explore relationship between HBeAg seroconversion with HBV genotypes and HBV specific CTL in patients with chronic hepatitis B (CHB) treated with Adefovir dipivoxil. METHODS: Seventy CHB patients had positive HBV DNA (HBV DNA > or = 1 x 10(4) copy/ml), 45 cases had positive HBeAg, of whom 23 cases (51. 11%) had genotype B, 22 cases (48.89%) had genotype C. ALT > 2 x upper limit of normal value (ULN), human leukocyte antigen (HLA)-A(n) positive, patients were treated with Adefovir dipivoxil (commercial name is Mingzheng, Zhengda Tianjing Pharmaceutical Company), 10 mg, orally, once a day. After treatment for 12 months, observe relationship between HBeAg seroconversion with HBV genotypes and HBV specific CTL. RESULTS: After treatment with Adefovir dipivoxil for 12 months, HBV specific CTL (0.68% +/- 0.11%) was higher than that before treatment (0.33% +/- 0.11%), t = 8.36 P < 0.001, HBV DNA (3.01 +/- 0.2) log10 copy/ml was lower than that before treatment (6.27 +/- 0.70) log10 copy/ml, t = 12.63 P < 0.001, HBV DNA turned negative (< 500 copy/ml) 43 cases (61.43%), in 45 cases with positive HBeAg, HBeAg turned negative in 13 cases (28.89%), 8 cases had HBeAg seroconversion (17.78%), HBV specific CTL (0.86% +/- 0.05%) of patients with HBeAg seroconversion is higher than (0.61% +/- 0.07%) of patients without HBeAg seroconversion (37 cases, 82.22%) t = 7.88, P < 0.001. In 8 cases with HBeAg seroconversion, 7 cases had genotype B (30.43% of genotype B), 1 cases had genotype C (4.55% of genotype C), chi2 = 5.15, P < 0.05. CONCLUSION: Adefovir dipivoxil can enhance HBV specific cellular immunity of CHB patients. After treatment, occurrence of HBeAg seroconversion is related to increase of HBV specific CTL level and may be related to genotypes.