Mycolicibacterium arseniciresistens sp. nov., isolated from lead-zinc mine tailing, and reclassification of two Mycobacterium species as Mycolicibacterium palauense comb. nov. and Mycolicibacterium grossiae comb. nov.

A Gram-positive, acid-fast, aerobic, rapidly growing and non-motile strain was isolated from lead-zinc mine tailing sampled in Lanping, Yunnan province, Southwest China. 16S rRNA gene sequence analysis showed that the most closely related species of strain KC 300T was Mycolicibacterium litorale CGMCC 4.5724T (98.47 %). Additionally, phylogenomic and specific conserved signature indel analysis revealed that strain KC 300T should be a member of genus Mycolicibacterium, and Mycobacterium palauense CECT 8779T and Mycobacterium grossiae DSM 104744T should also members of genus Mycolicibacterium. The genome size of strain KC 300T was 6.2 Mb with an in silico DNA G+C content of 69.2 mol%. Chemotaxonomic characteristics of strain KC 300T were also consistent with the genus Mycolicibacterium. The average nucleotide identity, digital DNA-DNA hybridization and average amino acid identity values, as well as phenotypic, physiological and biochemical characteristics, support that strain KC 300T represents a new species within the genus Mycolicibacterium, for which the name Mycolicibacterium arseniciresistens sp. nov. is proposed, with the type strain KC 300T (=CGMCC 1.19494T=JCM 35915T). In addition, we reclassified Mycobacterium palauense and Mycobacterium grossiae as Mycolicibacterium palauense comb. nov. and Mycolicibacterium grossiae comb. nov., respectively.

Chryseobacterium luquanense sp. nov., a casein-hydrolysing bacterium from the Jiaozi Mountain in Yunnan, PR China.

Strain KC 927T was isolated during an investigation of the soil bacteria diversity on Jiaozi Mountain, central Yunnan, Southwest China. The strain was Gram-stain-negative, rod-shaped, non-motile, oxidase-negative, catalase-positive and aerobic. Results of 16S rRNA gene alignment and phylogenetic analysis indicated that strain KC 927T was a member of the genus Chryseobacterium and closely related to Chryseobacterium caseinilyticum GCR10T (98.4%), Chryseobacterium piscicola DSM 21068T (98.3 %) and 'Chryseobacterium formosus' CCTCC AB 2015118T (97.9 %). With a genome size of 4 348 708 bp, strain KC 927T had 33.5 mol% DNA G+C content and contained 4012 protein-coding genes and 77 RNA genes. The average nucleotide identity and digital DNA-DNA hybridization values between strain KC 927T and C. caseinilyticum GCR10T, C. piscicola DSM 21068T and 'C. formosus' CCTCC AB 2015118T were 80.1, 79.6 and 90.7 %, and 25.5, 23.6 and 42.0 %, respectively. The main polar lipid of strain KC 927T was phosphatidylethanolamine and the respiratory quinone was MK-6. The major fatty acids (≥10 %) were iso-C15 : 0, iso-C17 : 1 ω9c and iso-C17 : 0 3-OH. Evidence from phenotypic, phylogenetic and chemotaxonomic analyses support that strain KC 927T represents a new species of the genus Chryseobacterium, for which the name Chryseobacterium luquanense sp. nov. is proposed. The type strain is KC 927T (=CGMCC 1.18760T=JCM 35707T).

Streptomyces plumbidurans sp. nov., a Pb2+-tolerant actinomycete.

A novel actinobacterium, designated KC 17012T, was isolated from lead zinc tailings collected from Lanping, Yunnan, PR China. Comparative 16S rRNA gene sequencing showed that KC 17012T belonged to the genus Streptomyces and was most closely related to the type strains of Streptomyces neyagawaensis (98.34%), Streptomyces panaciradicis (98.34%) and Streptomyces heilongjiangensis (98.27%). Phylogenetic tree analysis revealed strain KC 17012T formed a distinct clade. The genome size was 8.64 Mbp with a DNA G+C content of 70.8%. Digital DNA-DNA hybridization and average nucleotide identity values between the genome sequence of strain KC 17012T and those of S. neyagawaensis JCM 4796T (25.3 and 81.5 %) and S. panaciradicis NBRC 109811T (30.1 and 85.7 %) were below the thresholds of 70 and 96% for prokaryotic conspecific assignation. The strain formed long straight aerial hyphae which generated regular short rod spores with spiny surfaces. Growth occurred at 10-45 °C, pH 6-8 and with 0-9 % NaCl (w/v). Strain KC 17012T contained ll-diaminopimelic acid and the major whole-cell hydrolysates included glucose, mannose and ribose. The menaquinones were MK-9(H4), MK-9(H6) and MK-9(H8). The major cellular fatty acids were iso-C15 : 0, anteiso-C15 : 0, iso-C16 : 0 and anteiso-C17 : 0. The polar lipid profile consisted of diphosphatidylglycerol, phosphatidylethanolamine, phosphatidylglycerol, phosphatidylinositol, phosphatidylinositol mannoside, one unidentified lipid and one unidentified phospholipid. On the basis of the results of a polyphasic taxonomic study, it is concluded that KC 17012T represents a novel species of the genus Streptomyces, for which the name Streptomyces plumbidurans sp. nov., is proposed. The type strain is KC 17012T (CGMCC 4.7704T=JCM 35204T).

Siccirubricoccus soli sp. nov., a novel bacterial species isolated from Jiaozi Mountain soil.

An isolate of Gram-stain-negative and strictly aerobic bacterium, designated KC 17139T, was isolated from Jiaozi Mountain sample in Yunnan, China. Cells were non-motile cocci to oval, catalase-positive and oxidase-positive. Growth occurred at 0-7% NaCl (w/v; optimum, 0%), pH 6.0-8.0 (optimum, pH 7.0) and 15-45 °C (optimum, 28-37 °C). The polar lipids were diphosphatidylglycerol (DPG), phosphatidylethanolamine (PE), phosphatidylglycerol (PG), phosphatidylcholine (PC) and four unidentified aminolipids (UALs). Strain KC 17139T contained summed feature 8 (comprising C18:1 ω7c and/or C18:1 ω6c), C18:1 2OH and C16:0 as major cellular fatty acids (> 5%) and ubiquinone-10 as the sole isoprenoid quinone. The 16S rRNA gene sequence analysis indicated that strain KC 17139T shared highest similarities with Siccirubricoccus phaeus 1-3T (96.7%) and Siccirubricoccus deserti SYSU D8009T (95.0%). Strain KC 17139T clustered with the two Siccirubricoccus type strains, but formed a separate branch in both 16S rRNA gene and genome-scale phylogenetic dendrograms. The genomic DNA G + C content of strain KC 17139T was 71.2%. Genomic comparisons between strain KC 17139T and its close relatives showed the highest digital DNA-DNA hybridisation to S. phaeus (35.5%), highest average nucleotide identity to S. phaeus (88.2%), indicating that strain KC 17139T represents a novel species. On the basis of results of phenotypic, chemotaxonomic and molecular analysis, we report a new bacterium strain KC 17139T belonged to genus Siccirubricoccus, for which the name Siccirubricoccus soli sp. nov. is proposed. The type strain is KC 17139T (= CGMCC 1.18756T = JCM 35132T).

Remedial dosing recommendations for delayed or missed doses of valproic acid in patients with epilepsy based on Monte Carlo simulations.

OBJECTIVE: Delayed or missed doses are unavoidable in the pharmacotherapy of epilepsy and significantly compromise the efficacy of antiepileptic drug treatment. An inappropriate remedial regimen can cause seizure relapse or serious adverse events. This study investigated the effect of delayed or missed doses on the pharmacokinetics (PK) of valproic acid (VPA) in patients with epilepsy and established remedial dosing recommendations for nonadherent patients. METHODS: Monte Carlo simulations are based on all previous population pharmacokinetic models for pediatric, adult and elderly patients with epilepsy. The following four remedial strategies were investigated for each delayed dose: A) A partial dose or a regular dose is taken immediately; a regular dose is taken at the next scheduled time. B) The delayed dose was administered immediately, followed by a partial dose at the next scheduled time. C) The delayed dose and a partial dose are taken; the next scheduled time is skipped, and the regular regimen is resumed. D) Double doses are taken when missed one dose or two doses, and the regular regimen at the subsequent scheduled time is resumed. RESULTS: The recommended remedial dose was related to the delay duration and daily dose. Remedial dosing strategies A and B were almost equivalent, whereas Strategy C was recommended when the delayed dose was close to the next scheduled dose. Strategy D was only suggested for delayed two doses. CONCLUSION: Simulations provide quantitative insight into the remedial regimens for nonadherent patients, and clinicians should select the optimal regimen for each patient based on the individual's status.

Hepcidin protects against iron overload-induced inhibition of bone formation in zebrafish.

Iron overload increases the risk of osteoporosis, which leads to an increase in the incidences of bone fracture after menopause. In vitro studies have demonstrated that excess iron can inhibit osteoblast activity. Hepcidin, a central regulator of iron homeostasis, prevents iron overload, and thus, it is considered to have anti-osteoporosis effects. In this study, a zebrafish model was employed to investigate the therapeutic role of hepcidin in iron overload-induced inhibition of bone formation. Our results show that ferric ammonium citrate (FAC) treatment decreased osteoblast-specific gene expression (runx2a, runx2b, and bglap) and bone mineralization in the zebrafish embryo, accompanied with increased whole-body iron levels and oxidative stress. Bone mineralization and osteoblast-specific gene expression increased with the microinjection of hepcidin-flag Capped-mRNA into zebrafish embryos. Moreover, the whole-body iron content and oxidative stress in the iron-overloaded zebrafish embryos decreased when microinjection of hepcidin preceded the FAC treatment. Therefore, our study suggests that hepcidin could prevent and rescue reduced bone formation caused by FAC treatment by preventing iron absorption.

Inhibition of mTOR and HIF pathways diminishes chondro-osteogenesis and cell proliferation in chondroblastoma.

Chondroblastoma (CBL) is a benign bone tumor occurring mostly in teenagers. Despite this, CBL can recur and metastasize after curettage, which may impede normal epiphysis. In search of a novel targeted therapy for CBL, we aimed at BMP-2, a factor critical for chondro-osteogenesis and chondrocyte proliferation. Two pathways upstream of BMP-2, the mTOR and HIF, were targeted with rapamycin (Rapa) and FM19G11 (FM), respectively. Using immunohistochemistry, we found BMP-2 was highly expressed in CBL tissues. CBL cells explanted and confirmed with higher BMP-2 level than normal cartilage. Protumorigenic effect of Rapa and FM on CBL cells were transduced via BMP-2. Combination of Rapa and FM conferred stronger inhibition of cell proliferation than either monotherapy and inhibited levels of chondro-osteogenic markers (Sox9, aggrecan, and type II collagen). To minimize the adverse effect of Rapa, we performed screening in essential amino acids and found leucine deprivation-sensitized CBL cells to Rapa. Combination treatment of low dose Rapa, FM, and leucine deprivation conferred compatible inhibitory effects on CBL cell proliferation, chondro-osteogenic potential, and tumorigenic capacity. We conclude that targeting BMP-2 using mTOR/HIF inhibition could potently curb the disease. Addition of low-leucine diet could lower the dose of rapamycin in chase for less toxicity.

Expression of bone-morphogenetic protein 2 and tumor necrosis factor α correlates with bone metastases in bladder urothelial carcinoma.

We have investigated the role of bone-morphogenetic protein (BMP) 2 and tumor necrosis factor α (TNF-α) in 33 patients with bladder cancer (BCa) with bone metastasis. Thirty nonmetastatic BCas were included as controls. Immunohistochemical staining with BMP-2 and TNF-α was performed. Expressions of the factors were quantified and studied statistically. As a result, a trend showing higher expression of BMP-2 and TNF-α was associated with advanced disease. Expressions of BMP-2 and TNF-α were significantly higher in BCa with bone metastases (P = .0002 and P = .0172, respectively). The expression of BMP-2 and TNF-α showed a direct correlation in metastatic and muscle-invasive cases (P = .0202 and P = .0004, respectively) but not in nonmetastatic or noninvasive BCa (P = .1834 and P = .9215, respectively). It is postulated that BMP-2 can be responsible for the mechanism involved in triggering bone metastasis in BCa. The correlation with TNF-α indicates that the interaction of the 2 factors may promote local invasion and distant metastasis, especially to bone.

Treatment of epilepsy in adults: expert opinion in China.

OBJECTIVE: The goal of this study was to survey a group of epileptologists in China regarding the treatment of adult epilepsy. METHODS: A questionnaire on treatment of adult epilepsy was sent to a group of opinion leaders in the field of epilepsy. RESULTS: For initial monotherapy for idiopathic generalized epilepsy (IGE), valproate was rated as the treatment of choice. In symptomatic localization-related epilepsy (SLRE)/simple partial seizures and SLRE/complex partial seizures, carbamazepine and oxcarbazepine were the respective treatments of choice, whereas in SLRE/secondarily generalized tonic-clonic seizures, carbamazepine, lamotrigine, and oxcarbazepine were treatments of choice. For women who were pregnant or trying to conceive, lamotrigine was the treatment of choice for both IGE and SLRE. In people with epilepsy who were HBsAg positive, whether liver function was normal or not, topiramate and levetiracetam were treatments of choice for IGE. Valproate and levetiracetam were treatments of choice for seizures in the emergency department. CONCLUSION: A high level of consensus was reached on most treatments of choice and first-line treatments for patients with epilepsy, which were in accordance with published US expert opinion.

Determinants of quality of life in people with epilepsy and their gender differences.

Improving the patient's quality of life (QOL) is the most important goal of epilepsy management. We performed this study to determine the factors associated with QOL in people with epilepsy and to assess whether there are gender differences in these determinants. Patients were interviewed using the Quality of Life in Epilepsy Inventory-31(QOLIE-31), the Adverse Event Profile (AEP), the Self-Rating Anxiety Scale (SAS), and the Hamilton Depression Rating Scale (HAMD). Two hundred forty-seven patients (152 men, 95 women) were included in the analysis. Among all patients, regressive analyses showed that AEP score was the strongest predictor of the QOLIE-31 overall score, accounting for 10.4% of the variance. The next strongest predictors were the number of currently used antiepileptic drugs (AEDs) (3.6%), the HAMD score (2.5%), and the SAS score (1.2%). Importantly, there were gender differences in these predictors of QOL. The strongest predictors of the QOLIE-31 overall score in women were the AEP score and the number of AEDs. In contrast, the strongest predictors in men were the SAS score, the AEP score and the frequency of seizures. These results indicate that perceived adverse effects of treatments and number of AEDs exerted greater effects on QOL in women, whereas anxiety and seizure-related variables had a stronger impact on QOL among men. Accordingly, it may be necessary to individualize interventions to improve the QOL of people with epilepsy.

Pathogenicity of Ureaplasma urealyticum and Ureaplasma parvum in the lower genital tract of female BALB/c mice.

The aim of this study was to establish a murine model of lower genital tract infection by Ureaplasma urealyticum and Ureaplasma parvum and evaluate differences in pathogenicity of five serotypes. BALB/c female mice were divided into seven groups (five mice in each group), including five groups infected in the lower genital tract after treatment with estradiol with U. urealyticum serotypes 4 and 8 and U. parvum serotypes 1, 3, and 6, respectively, and two control groups of untreated mice and estradiol treated mice. The presence of infection was determined on solid and liquid culture media. Tumor necrosis factor-alpha (TNF-α) expression in lower genital tract secretions was determined by PCR, and morphological and histological changes of the lower genital tract were observed. The genital secretions of all inoculated mice were positive for U. urealyticum and U. parvum on culture in both liquid and solid media. TNF-α expression at 7 and 14 days after infection was markedly increased as compared with that of the controls. Morphological changes of the external genitalia included hair loss and erosions, and histological examination revealed infiltration by inflammatory cells. The five serotypes tested were all found to be pathogenic, and the pathogenicity varied with serotype 4 showing the greatest pathogenicity.

Phenotypic and genetic characteristics of macrolide and lincosamide resistant Ureaplasma urealyticum isolated in Guangzhou, China.

The phenotypic and genetic characteristics of resistance to macrolides and lincosamides among 72 Ureaplasma urealyticum clinical strains isolated in Guangzhou, China were investigated in this study. Strains were studied by resistance phenotyping, detection of resistance genes (ermB, msrA, msrB, msrC, and msrD), and determining the significance of an association between the presence of resistance genes and the int-Tn gene (a genetic marker of transposon). The ermB, msrA, msrB, msrC, and msrD genes were obtained in 21, 1, 12, 0, and 24 strains, respectively. The msrB and msrD genes were detected in strains of macrolides (M) or macrolides-streptogramin B (MS) resistance phenotype, and the ermB gene was detected in strains of M or macrolide-lincosamide (ML) phenotype in U. urealyticum. Statistical analysis revealed that only the ermB gene was closely associated with the int-Tn gene. It was concluded that U. urealyticum harbored the ermB, msrA, msrB, and msrD genes which confer resistance to macrolides and (or) lincosamides. The ermB gene may be located in the U. urealyticum transposon.

[Factors associated with quality of life in epileptics and the variations between men and women, younger and older people].

OBJECTIVE: To determine factors associated with quality of life (QOL) in epileptics and the variations between men and women, younger and older people. METHODS: A total of 204 patients (160 younger, 49 older; 125 men, 79 women) were interviewed by the quality of life in epilepsy-31 (QOLIE-31), side effect profile (SEP), self-rating anxiety scale (SAS) and Hamilton depression scale (HAMD). Medical and socio-demographic data were acquired from patient records. Multivariate linear regressive analyses were used to determine the set of best predictors of composite QOLIE-31 score. RESULTS: No statistical difference was revealed in QOLIE-31 overall score either between younger and older patients or between men and women. Among all patients, regressive analyses revealed that SEP (beta = - 0.395, P = 0.000) and SAS (beta = -0.152, P = 0.016) were two strong predictors of QOLIE-31 overall score. Grouped by gender, among men, epilepsy duration (beta = -0.165, P = 0.028) and seizure frequency (beta = -0.284, P = 0.001) respectively associated with QOLIE-31 overall score and "social function" score while the number of AEDs (antiepileptic drugs) substantially correlated with QOLIE-31 overall score among women (beta= -0.238, P = 0.006). Grouped by ages, seizure frequency (beta = -0.284, P = 0.000) and education level (beta = 0.203, P = 0.005) predicted QOLIE-31 "social function" score only among younger patients; among older patients, a significant association were found between the number of AEDs and QOLIE-31 overall score (beta = - 0.363, P = 0.004). CONCLUSION: Side effects of AEDs and number of AEDs exert greater effect on QOL in women and older patients. And such seizure-related variables as epileptic duration and seizure frequency influence QOL only among men and younger patients.

International Bureau for Epilepsy survey of children, teenagers, and young people with epilepsy: data in China.

The goals of this study were to assess the perception of people with or directly involved with childhood and adolescent epilepsy in China, and to gain insight into the real-life effects that epilepsy can have on quality of life, development, and opportunities for the future. Survey questionnaires were developed by the International Bureau for Epilepsy for three groups: teenagers and young adults, parents/caregivers of children with epilepsy, and health care professionals. In total we received 968 responses from 20 cities in China. Nearly two-thirds of teenagers and young adults with epilepsy (64.9%) and two-thirds of parents/caregivers of children with epilepsy (64.0%) who responded to the survey had kept epilepsy a secret from others. When asked specifically about drug-related side effects, more than half of teenagers and young adults with epilepsy reported experiencing side effects, specifically dizziness (23.9%), weight change (22.9%), and headache (14.5%). Health care professionals reported cognitive side effects (94.2%), mood change (56.7%), and skin rash (50%) in their patients with epilepsy. More than two-thirds of the teenagers and young adults with epilepsy (75.7%) expected the condition to hinder their lives in the future, affecting their chances of getting a job (52.6%), continuing their education (35.5%), and getting a boyfriend or girlfriend (33.7%). Among parents/caregivers of children with epilepsy, 85.7% expected the condition to hinder their child's life in the future. This survey documents some of the real-life consequences of epilepsy and highlights the important challenges and issues faced by people with epilepsy and their families in China. Ensuring that people are as free from seizures as possible and minimizing the side effects of treatment must be the primary goals of epilepsy management.

[Effect of dizocilpine on P-glycoprotein expression in hippocampus in limbic seizure: experiment with rats].

OBJECTIVE: To observe the effect of dizocilpine (MK801), a noncompetitive antagonist of N-methyl-D-aspartic acid (NMDA) receptor, on P-glycoprotein (P-gp) expression after limbic seizure, and to explore whether NMDA receptor play a role in the regulation of P-gp expression during limbic seizure. METHODS: 120 Wistar rats were randomly divided into 2 equal sets. 50 rats in Set 1 underwent intraperitoneal injection of lithium chloride, scopolamine, and pilocarpine so as to cause status epilepticus (SE) for 90 min. Then diazepam was given to terminate the SE. The rats were killed 0, 3, 6, 14, and 72 h after the SE respectively. The hippocampus was isolated. Realtime fluorescent quantitative RT-PCR (qRT-PCR) was used to detect the expression of multidrug resistance gene 1a (mdr1a) and mdr1b. Immunohistochemistry was used to detect the P-gp. The rats were used as controls. Another 60 rats (Set 2) were randomly divided into 3 equal groups: control group, given with normal saline (NS) only, SE group, given with NS 20 min before administration of pilocarpine, and MK801 group, given with MK801 20 min before administration of pilocarpine. The 3 groups in Set 2 were further divided into 2 equal subgroups of 10 rats to be killed 6 or 24 h after SE. RESULTS: The mdr1a expression in hippocampus within 72 h after seizure was much higher at each time point: the level of mdr1a expression instantly after the seizure was terminated was [5.6 (2.9) x 10(5) mRNA copies/40 ng total RNA], significantly higher than that of the controls [2.4 (1.1) x 10(5) mRNA copies/40 ng total RNA, P < 0.05], increased to the level of [7.6 (6.3) x 10(5), P < 0.01] 3 h after, and kept at such level till 72 h after. The msr1b expression transiently increased 2.2 and 2.4 times that of the controls respectively 3 h and 6 h after the seizure was terminated [(3.3 +/- 0.4) x 10(4), and (3.6 +/- 1.0) x 10(4), both P < 0.01)]. The expression level of mdr1a 6 h after the seizure was terminated of the MK801 group was (4.3 +/- 0.8) x 10(5) and the expression level of mdr1b 6 h after the seizure was terminated of the MK801 group was (2.0 +/- 0.7) x 10(4), both significantly lower than those of the SE group (both P < 0.01). The P-gp expression level 24 h after the seizure was terminated of the MK801 group was 26.6 +/- 5.0 pieces of microvessels/400 times field, significantly lower than that of the SE group (39.0 +/- 4.1, P < 0.01). CONCLUSION: MK801 down-regulates the overexpression of P-gp after seizure, which indicates that NMDA receptor may be involved in the regulation of P-gp expression during seizure. Therefore, it is possible to prevent the overexpression of P-gp after seizure by inhibiting NMDA receptor's overactivation effectively.

miR-195 inhibits the proliferation and migration of chondrocytes by targeting GIT1.

Previous studies have demonstrated that G-protein coupled receptor kinase interacting protein-1 (GIT1) and microRNAs (miRNAs) serve an important role in chondrocyte proliferation and migration. However, a limited number of studies conducted thus far have investigated the association between GIT1 and miRNAs. In the present study, putative miR­195 binding sites in the GIT1 3'­untranslated region were identified using common bioinformatic algorithms (miRanda, TargetScan, miRBase and miRWalk), and it was demonstrated that they may be involved in regulating GIT1 expression. Following transfection of miR­195 mimics in chondrocytes, the expression of GIT1 was significantly reduced, whereas the expression was significantly increased following transfection with miR­195 inhibitors. In addition, the results of the current study demonstrated that increased miR­195 expression may downregulate chondrocyte proliferation and reduce cell migration. However, chondrocyte proliferation and migration was enhanced following suppression of miR­195 expression. Furthermore, upon co­transfection of miR­195 and GIT1 expression vectors, the inhibitory effect of miR­195 on chondrocyte proliferation and migration was attenuated. Therefore, miR­195 may affect chondrocyte proliferation and migration via targeted regulation of GIT1 expression. The results of the current study provide novel evidence for the regulatory mechanisms of miRNAs in bone and cartilage tissues, which may facilitate further research and provide a greater understanding of different osteoarticular diseases.

A Polysomnography Study of Kleine-Levin Syndrome in a Single Center.

BACKGROUND: Kleine-Levin syndrome (KLS) is a rare sleep disorder characterized by recurrent episodes of hypersomnia. Polysomnographic (PSG) researches of KLS have been reported only in few publications in the past decades. This study aimed to investigate the characteristics of PSG of KLS. METHODS: This study, which was conducted from March 2010 to July 2014, included seven patients diagnosed with KLS in the Sleep and Wake Disorder Center of Huashan Hospital, Fudan University (Shanghai, China). PSG and multiple sleep latency tests (MSLT) were performed during their episodes and the results were evaluated. RESULTS: Five of the seven patients were males. The mean age at KLS onset was 15.6 ± 3.6 years. The number of episodes ranged from 2 to 7. The duration of episodes lasted from 4 to 11 days. The sleep architecture and proportion were normal in most of the patients. The average value of mean sleep latency was 6.9 ± 4.1 min. No sleep-onset rapid eye movement (SOREM) was detected in three of the patients, whereas one patient experienced one period of SOREM, and such episodes occurred twice in other two patients. CONCLUSIONS: We found that sleep architecture and proportion were normal in most KLS patients. However, the results of PSG and MSLT had no specificity for KLS patients.

[A novel KIT gene mutation results in piebaldism].

OBJECTIVE: To detect gene mutation in proband and his mother from a family with piebaldism. METHODS: Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism. RESULTS: G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members. CONCLUSION: The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.

[A novel KIT gene mutation from a family with piebaldism in the southern part of China].

OBJECTIVE: To detect the gene mutation of a family with piebaldism. METHODS: Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing. RESULTS: G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members. CONCLUSION: The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.

[Curative effect of gabapentin on refractory epilepsy].

OBJECTIVE: To assess the safety and efficacy of gabapentin in treatment of refractory epilepsy. METHODS: Sixty-six patients with refractory epilepsy were treated with gabapentin 200 mg/d and 72 patients with placebo, totally 138 patients in five hospitals in different cities in China. Double-blind study was performed to observe the times of seizure, and Mini-Mental State Examination (MMSE) and Activities of Daily Life (ADL) assessment were conducted every 4 weeks. RESULTS: In comparison with the control group, the seizure times at any time point in the GB group all decreased with significant differences at the 12th and 20th weeks. The significant efficacy rates, with the seizure times decreasing by more than 75%, in the gabapentin group were higher than those in the control group, with significant differences in the 4, 8, 16, and 20th weeks. Both the MMSE scores of the 2 groups were raised with a significant difference between the 2 groups at the 16 weeks. There was no significant difference in ADL between these 2 groups. No serious side effect was found in these 2 groups. CONCLUSION: Gabapentin at a dosage of 1200 mg/d is safe and effective in treatment of epilepsy.