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Hair is an important personal attribute defined by the person's natural hair shape, form and colour as well as by age and health. The hair of Black women has a specific curly texture that has been commonly manipulated to resemble straighter European hair, following centuries of oppressive beauty norms. The biological hair aging also presents challenges to some women due to the traditional social constructs of beauty and the persistent pressure on women to maintain their appearance. This interdisciplinary study explores the evolution of hair management practices of Black women from age-related biological, personal, social and well-being perspectives. A mixed methods approach was adopted, based on an online survey (n = 46) followed by in depth semi-structured interviews (n = 10). A statistically significant shift towards less frequent use of complex hair styles and visits to the hairdressers over a 30-year period was found, but frequency of hair colouring was not impacted. Three main qualitative themes were identified: 1) managing hair greying represented an important age-related negotiation of personal and social identity; 2) curly hair texture remained a strong personal and cultural identity symbol in light of historical dominance of Eurocentric hair beauty standards and hair-based discrimination; and 3) subjective well-being was strengthened by increased confidence in one's personal hair aesthetics and better-informed choices about hair management. Overall, age did not diminish the desire to maintain good hair. Increasing the visibility of older Black women's hair will further support their capacity to negotiate their presence and participation in social and professional contexts and to enhance their subjective well-being.

This study aimed to elucidate the effect of hatching status on in vitro fertilization (IVF) outcomes in frozen-thawed blastocyst transfer cycles. Frozen-thawed embryo transfer (FET) cycles performed at a single fertility center between 2016 and 2021 were retrospectively assessed. Analyses were restricted to 6,821 frozen-thawed blastocyst transfers in women aged 24-47 years. For optimal comparability, double embryo transfer (ET) cycles consisting of one hatching and one hatched blastocyst were excluded. The implantation and pregnancy rates were evaluated and compared between the hatching and hatched blastocyst transfer groups based on patients' age (<38 vs. ≥38 years), blastocyst grade (good vs. bad grade), and the number of transferred embryos (single ET vs. double ET). Hatched blastocyst transfer was associated with higher implantation and clinical pregnancy rates in the single ET group (15.7% and 15.6%, respectively; p<0.001). The transfer of two hatched blastocysts had higher implantation and clinical pregnancy rates compared to the transfer of two hatching blastocysts (19.5% and 20.4%, respectively; p<0.001) in the double ET group. In the hatched blastocyst transfer group, the clinical pregnancy and implantation rates were higher, regardless of each woman's age and embryo quality. The IVF treatment outcomes were improved when the blastocysts were hatched during FET cycles. Hence, hatched blastocyst transfer in FET cycles could be considered a superior method in IVF practice., Competing Interests: Declarations. Ethics approval: The study was approved by the Institutional Review Board at the CHA Fertility Center Seoul Station, CHA Gangnam Medical Center, CHA University (CHAIRB, approval no. GCI-19-25) and performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Consent to participate: Informed consent was obtained from all individual participants included in this study. Consent for publication: Not applicable, (© 2024. The Author(s), under exclusive licence to Society for Reproductive Investigation.)

Objective: We aimed to explore the clinical characteristics and functional network properties of patients with late-onset Lennox-Gastaut syndrome (LGS)., Methods: Late-onset LGS was defined by the appearance of LGS features after 8 years of age. We reviewed the medical charts of 9 patients with late-onset LGS, and performed electroencephalography connectivity analysis using graph theory. We assessed the clustering coefficient (CC) and characteristic path length (CPL), which are common basic measures of functional networks that represent local segregation and global integration. The characteristics and brain parameters of late-onset LGS were compared with a typical age-onset LGS group., Results: Late onset LGS subjects were older than typical age onset LGS at the time of testing, but otherwise there were no significant differences in clinical characteristics. The late-onset group showed higher median CC values in the alpha (p = 0.045) and beta (p < 0.001) bands over brain regions implicated in cognitive processing. There were no significant differences in CPL between the LGS groups., Conclusions: Higher clustering coefficient values, in alpha/beta bands over brain regions implicated in cognitive processing, are consistent with increased cognitive network segregation in late onset LGS compared to typical age-onset LGS. Given network segregation is a normal aspect of brain maturation, these results imply that this process is less disturbed when the LGS process begins later in childhood., Competing Interests: Declaration of Competing Interest None., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Objective: Functional network effects of resective or palliative epilepsy surgery in Lennox-Gastaut syndrome (LGS) patients are different according to the seizure outcome. This study aimed to clarify whether the response to antiseizure medications (ASM) can affect to alteration of brain network connectivity., Methods: In this retrospective study, 37 patients with LGS who underwent 1st electroencephalography (EEG) and 40 healthy controls were enrolled. Among them, 24 LGS patients had follow-up EEG data and were classified as drug responders and non-responders according to the ASM response. Graphical theoretical analysis was used to assess functional connectivity using resting-state EEG., Results: The 1st EEG showed a decreased radius in patients with LGS compared with that in healthy controls (3.987 vs. 4.279, P = 0.003). Follow-up EEG data of patients with LGS revealed significant differences in functional connectivity depending on the ASM response. On follow-up EEG, non-responders (n = 11) demonstrated significant increases in global network parameters, whereas responders (n = 13) showed no significant difference in functional connectivity compared with healthy controls., Conclusions: The functional connectivity patterns in patients with LGS differed from those in healthy controls. Functional connectivity in drug-responsive patients with LGS tended to preserve the network of brain connections in a pattern similar to that in healthy controls, whereas non-responders showed more disrupted functional connectivity., Competing Interests: Declaration of Competing Interest None., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Objective: For patients with drug-resistant focal epilepsy, intracranial monitoring remains the gold standard for surgical intervention. Focal cortical dysplasia (FCD) is the most common cause of pharmacoresistant focal epilepsy in pediatric patients who usually develop seizures in early childhood. Timely removal of the epileptogenic zone (EZ) is necessary to achieve lasting seizure freedom and favorable developmental and cognitive outcomes to improve the quality of life. We applied brain network analysis to investigate potential biomarkers for the diagnosis of EZ that will aid in the resection for pediatric focal epilepsy patients with FCD type II., Methods: Ten pediatric patients with focal epilepsy diagnosed as FCD type II and that had a follow-up after resection surgery (Engel class I [ n = 9] and Engel class II [ n = 1]) were retrospectively included. Time-frequency analysis of phase transfer entropy, graph theory analysis, and power spectrum compensation were combined to calculate brain network parameters based on interictal epileptiform discharges from ECoG., Results: Clustering coefficient, local efficiency, node out-degree, and node out-strength with higher values are the most reliable biomarkers for the delineation of EZ, and the differences between EZ and margin zone (MZ), and EZ and normal zone (NZ) were significant ( p < 0.05; Mann-Whitney U -test, two-tailed). In particular, the difference between MZ and NZ was significant for patients with frontal FCD (MZ > NZ; p < 0.05) but was not significant for patients with extra-frontal FCD., Conclusions: Brain network analysis, based on the combination of time-frequency analysis of phase transfer entropy, graph theory analysis, and power spectrum compensation, can aid in the diagnosis of EZ for pediatric focal epilepsy patients with FCD type II., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Wang, Noh, Kim, Yang, Yang, Kim, Hur and Kim.)

This study was conducted to evaluate the competency to consent to the treatment of psychiatric outpatients and to confirm the role of empowerment and emotional variables in the relationship between competency to consent to treatment and psychological well-being. The study participants consisted of 191 psychiatric outpatients who voluntarily consented to the study among psychiatric outpatients. As a result of competency to consent to treatment evaluation, the score of the psychiatric outpatient's consent to treatment was higher than the cut-off point for both the overall and sub-factors, confirming that they were overall good. In addition, the effect of the ability of application on psychological well-being among competency to consent to treatment was verified using PROCESS Macro, and the double mediation effect using empowerment and emotional variables was verified to provide an expanded understanding of this. As a result of the analysis, empowerment completely mediated the relation between the ability of application and psychological well-being, and the relation between the ability of application and psychological well-being was sequentially mediated by empowerment and emotion-related variables. Based on these findings, the implications and limitations of this study were discussed.

Mutations of phosphatidylinositol glycan biosynthesis class T ( PIGT ), which encodes a subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, can lead to multiple anomalies, including seizures, intellectual disabilities, facial dysmorphism, and various congenital malformations. We performed whole-exome sequencing in a patient with seizures, intellectual disabilities, truncal ataxia, facial dysmorphism, and persistent hypophosphatasia without rickets or bone mineralization defects, and identified two heterozygous mutations in PIGT , c.250G>T (p.Glu84*) and c.1582G>A (p.Val528Met). GPI-linked protein analyses found no abnormalities. Although the patient's hypophosphatasia persists, no skeletal, urological, or dental abnormalities were found. The seizures disappeared after administering antiepileptic drugs. PIGT mutations should be considered in patients with multiple congenital symptoms and persistent hypophosphatasia., (© 2021 by the Association of Clinical Scientists, Inc.)

Objectives: We estimated the impact of universal hepatitis B immunization using 18-year data of women who are of childbearing age in South Korea., Methods: We used hepatitis B surface antigen (HBsAg) and antibody (anti-HBs) data of 145,993 women aged 20-49 years during 2001-2018 at the Gangnam CHA Medical Center. Annual prevalences of HBsAg and anti-HBs positivity were calculated and tested for linear trend. We conducted age-period-cohort (APC) analysis to obtain period and cohort effect., Results: Overall proportion of HBsAg positivity was 3.5% (n = 5050) and anti-HBs positivity was 75.3% (n = 109,907) during the study period. HBsAg positivity percentage decreased from 5.1% in 2001 to 2.5% in 2018 (P < 0.001) while anti-HBs positivity increased from 59.9% to 75.8% (P = 0.002). Average annual percent change of HBsAg positivity was -5.9% (95% confidence interval (CI): -6.9%, -4.8%). The period and cohort RR curve identified a consistent decrease in HBsAg positivity over time and across generations., Conclusions: We observed a concurrent decrease in HBsAg and an increase in anti-HBs seropositivity among Korean women of childbearing age, implicating success in preventing vertical transmission., (Copyright © 2020. Published by Elsevier Ltd.)

Bakanae disease is a fungal disease of rice ( Oryza sativa L.) caused by the pathogen Gibberella fujikuroi (also known as Fusarium fujikuroi ). This study was carried out to identify novel quantitative trait loci (QTLs) from an indica variety Zenith. We performed a QTL mapping using 180 F 2:9 recombinant inbred lines (RILs) derived from a cross between the resistant variety, Zenith, and the susceptible variety, Ilpum. A primary QTL study using the genotypes and phenotypes of the RILs indicated that the locus qBK1 z conferring bakanae disease resistance from the Zenith was located in a 2.8 Mb region bordered by the two RM (Rice Microsatellite) markers, RM1331 and RM3530 on chromosome 1. The log of odds (LOD) score of qBK1 z was 13.43, accounting for 30.9% of the total phenotypic variation. A finer localization of qBK1 z was delimited at an approximate 730 kb interval in the physical map between Chr01&#95;1435908 (1.43 Mbp) and RM10116 (2.16 Mbp). Introducing qBK1 z or pyramiding with other previously identified QTLs could provide effective genetic control of bakanae disease in rice.

Current knowledge of the association between peripheral natural killer (NK) cell proportion and ovarian function in reproductive-age women is limited. We explored the association between NK cell proportion and ovarian function in women who underwent in-vitro fertilization (IVF) treatment. This was a retrospective cohort study using the data of 20-44-year-old women with recurrent implantation failure (RIF) who were tested for NK cell proportion and anti-Müllerian hormone (AMH). Indicators of ovarian function included AMH, observed-to-(age-appropriate) reference AMH ratio, high FSH, peak E 2 and total number of oocytes during the first IVF cycle following the test. We used different model specification controlling for women's age, and body mass index. Among a total of 936 women, majority showed lower AMH compared to age-appropriate level. Average NK cell proportion was 13.5 ± 5.7%. Number of oocytes showed positive association with NK cell (ß = 0.040, p  = .025). In the subgroup with NK ≥ 18%, NK cell proportion was negatively associated with AMH (-0.106, p  = .012), AMH ratio (-0.049, p  = .014) and number of oocytes (-0.021, p  < .001) while the associations with others remain close to null. High NK cell proportion may be harmful to ovarian reserve or function.

Silk fibroin proteins are biomaterials with diverse applications. These spider and silkworm proteins have specific biological effects when consumed by mammals; in addition to reducing blood pressure and blood glucose and cholesterol levels, they have anti-human immunodeficiency virus activity. In the present study, rice ( Oryza sativa ) was engineered to produce the C-terminus of the major ampullate spidroin protein from the spider Araneus ventricosus under the control of a Prolamin promoter. Homozygous transgenic rice lines were identified, and the therapeutic effect of this spider silk fibroin protein on the lipid and glucose metabolism was analyzed in a mouse model. Feeding fat-fed mice, the transgenic rice seeds for four weeks reduced serum concentrations of triglycerides, total cholesterol, low-density lipoprotein cholesterol, glutamic oxaloacetic transaminase, and glutamic pyruvic transaminase, and lowered blood glucose levels. This is the first study to investigate the effects of consumption of rice seeds heterologously expressing spider silk fibroin protein in a mammalian model. Our findings suggest that functional foods containing spider silk fibroin protein might be useful as potential pharmaceutical materials for preventing and treating diabetes, hyperlipidemia, and hypercholesterolemia.

Purpose: Literature regarding family stigma related to epilepsy is scarce. This study investigated the prevalence of family stigma and depressive symptoms and the associated factors among the family members of patients with epilepsy., Methods: In a cross-sectional study, Stigma Scale-Revised score ≥ 4 and Patient Health Questionnaire-9 score ≥ 10 were considered indicative of moderate-to-severe stigma and depressive symptoms, respectively. Stepwise logistic regression analyses were performed., Results: Of the 482 family members, a mean age was 47.1 ± 9.4 years, and 73.4% were female. Of the patients, a mean age was 25.5 ± 16.7 years, and 45.0% were female. Idiopathic generalized epilepsy and focal epilepsy were noted in 22.4% and 65.6% of patients, respectively. Family stigma and depressive symptoms were noted in 10.0% and 11.2% of family members, respectively. Family stigma was significantly associated with high seizure frequency and being a sibling or offspring of a patient independent of their depressive symptoms. By contrast, depressive symptoms in family members were significantly associated with polytherapy, being parents of a patient, and neurological comorbidities independent of family stigma. In a subset of patients and their family, patients had higher proportion of stigma and depressive symptoms than their family. Depressive symptoms and stigma among patients were significantly correlated with those among parents, but not spouse., Conclusion: Family stigma is common in families with epilepsy and is closely related to depressive symptoms. Frequent seizures, polytherapy, neurological comorbidities, and the relationship to a patient may be factors that are independently associated with family stigma and depressive symptoms in family members., Competing Interests: Declaration of competing interest We declare no conflicts of interest in relation to this study., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objective: Vagus nerve stimulation (VNS) is a nonpharmacologic therapeutic option for patients who have pharmaco-resistant Dravet syndrome (DS). Plentiful efforts have been made for delivering VNS to DS patients, but its effectiveness still requires further verification. We investigated the effectiveness of the VNS treatment of DS patients using brain connectivity analysis with electroencephalography (EEG)., Approach: Twenty pharmaco-resistant DS patients were selected to undergo VNS implantation and classified into responder and non-responder groups after 24 months post-VNS. The effect of VNS between 6 months pre- and 6, 12, and 24 months post-VNS in all patients, responders, and non-responders on four different frequency categories of four brain parameters were compared using resting-state EEG., Main Results: In alpha and beta bands, all patients showed positive results for characteristic path length (CPL), global efficiency (GE), and transitivity after VNS treatment, and changes in betweenness centrality (BC) were not significant. The difference in transitivity between responders and non-responders is more pronounced than those in CPL and GE are, in both the alpha (p < 0.015) and beta (p < 0.001) bands. There was an obvious change in BC, especially in the alpha band, as the hubs tended to move from frontal lobe to parietal lobe for responders; however, there was no change for the non-responders., Significance: We investigated the alteration in brain connectivity of DS patients in alpha and beta bands during a long-term follow-up and found the responders have a decreased transitivity after the VNS treatment. Moreover, the hubs with high values in the alpha band tended to move from frontal lobe to parietal lobe for responders after VNS treatment.

Purpose: The purpose of this study was to evaluate differences in stigma, disclosure management of epilepsy, and knowledge about epilepsy between patients with epilepsy who recognized and did not recognize the new Korean term for epilepsy., Methods: This was a cross-sectional, multicenter study. The Stigma Scale-Revised, the Disclosure Management Scale, the Patient Health Questionnaire-9, and a questionnaire assessing knowledge about epilepsy were used. The set of questionnaires had two versions, using either the old or new name for epilepsy. Multivariate logistic regression analyses were used., Results: A total of 341 patients with epilepsy and 509 family members were recruited. Approximately 62% of patients felt some degree of epilepsy-related stigma. Mild stigma, severe concealment of epilepsy diagnosis, and increased knowledge about epilepsy were independently identified as factors associated with recognition of the new term in patients. Recognition of the new term was more prevalent in patients and family members with higher education, female family members, and family members having patients with younger age at seizure onset and shorter duration of epilepsy. There were no significant differences between the two types of questionnaires. About 81% of patients and 93% of family members had a positive attitude about renaming epilepsy., Conclusion: The use of the new Korean term for epilepsy (cerebroelectric disorder) increased knowledge about epilepsy but did not reduce stigma and concealment of epilepsy diagnosis in Korean adults with epilepsy. Higher education may be an important factor for knowing the new term in patients and family members., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Coffin-Siris Syndrome (CSS) is a rare neurodevelopmental disorder characterized by intellectual disability, coarse facial features, hypoplastic digits/nails, and hypertrichosis. The genes causative of CSS mainly encode the SWI/SNF complex, which contributes to chromatin remodeling and regulates the access of transcriptional factors to specific gene sites. While ARID1B mutations account for a third of all CSS cases, the condition's phenotypic features vary widely. We document the case of a girl with CSS who presented with a variant facial appearance, global developmental delay with speech impairment, agenesis of the corpus callosum, funnel chest, and bilateral renal stones without hypertrichosis or hypoplasia of the fifth fingernail. Genetic analysis revealed that the patient had a novel heterozygous frameshift mutation c.2201dupG (p.Ser736Ilefs*27) on the ARID1B gene., (© 2020 by the Association of Clinical Scientists, Inc.)

Background: Bakanae disease is an important fungal disease caused by Gibberella fujikuroi. Incidence of rice bakanae disease creates serious problems in the foremost rice growing countries, and no rice variety has been found to be completely resistant to this disease. However, breeding rice varieties resistant to bakanae disease may be a cost-saving solution preferable to the application of fungicides. In this study, we aimed to determine the exact position and the candidate gene for qBK1, a major resistant quantitative trait locus (QTLs) for bakanae disease., Results: The genotypes/phenotypes of recombinants selected from backcrossed recombinant inbred lines of two rice varieties, Shingwang (resistant) and Ilpum (susceptible), indicated that the locus qBK1, conferring resistance to bakanae disease in Shingwang, was delimited to a 35-kb interval delimited by InDel 18 (23.637 Mbp) and InDel 19-14 (23.672 Mbp). Sequence analysis of this 35-kb region revealed four candidate genes, LOC&#95;Os01g41770, LOC&#95;Os01g41780, LOC&#95;Os01g41790, and LOC&#95;Os01g41800. There were many non-synonymous SNPs in LOC&#95;Os01g41770 and the transcript of LOC&#95;Os01g41790 was early terminated in Shingwang, whereas there were no differences in both LOC&#95;Os01g41780 and LOC&#95;Os01g41800 sequences between Ilpum and Shingwang. Expression profiling of the four candidate genes showed the up-regulation of LOC&#95;Os01g41770, LOC&#95;Os01g41780, and LOC&#95;Os01g41790 in Ilpum and of LOC&#95;Os01g41800 in Shingwang after inoculation of G. fujikuroi., Conclusion: Utilization of marker-assisted selection (MAS) with a precise molecular marker on qBK1 could provide an effective tool for breeding rice varieties resistant to bakanae disease. To our knowledge, this is the first report on fine mapping and candidate gene approaches for identifying the gene for qBK1.

Purpose: Oxcarbazepine is known as an effective first-line monotherapy for pediatric focal epilepsy. Lamotrigine has also been reported to have similar efficacy to and better tolerability than carbamazepine. Therefore, the effectiveness of oxcarbazepine and lamotrigine monotherapies was compared in patients with pediatric focal epilepsy., Method: A total of 116 patients in pediatric patients with partial epilepsy received lamotrigine (n = 43) or oxcarbazepine (n = 73) monotherapy. The clinical characteristics, seizure outcomes, reasons for drug discontinuation, retention rate and adverse effects were evaluated for each drug., Results: Oxcarbazepine was more commonly used than lamotrigine (69/73 vs. 23/43) as initial monotherapy. Lamotrigine showed better efficacy than oxcarbazepine in terms of the seizure outcome more than 12 months (P<0.05). Oxcarbazepine and lamotrigine showed similar tolerability in terms of the retention rate, drug discontinuation and adverse effects. The rates of successful discontinuation were similar for patients receiving these drug as initial monotherapy (P > 0.05). The seizure outcome was much better for lamotrigine than for oxcarbazepine in patients with normal MRI findings and normal development (P = 0.001, P = 0.01). The retention rate was high in patients with MRI abnormalities or developmental delay in the lamotrigine group. The choice of lamotrigine was the only independent variable that predicted a seizure-free state, even after correcting for clinical variables (OR = 4.80, P = 0.013)., Conclusions: Lamotrigine was superior to oxcarbazepine monotherapy because of its greater effectiveness in treating pediatric focal epilepsy. Lamotrigine can be selected as a first-line monotherapy in patients with or without abnormal MRI findings or delayed development., (Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Background: Effective countermeasures against emerging infectious diseases require an understanding of transmission rate and basic reproduction number (R 0 ). R 0 for severe acute respiratory syndrome is generally considered to be >1, whereas that for Middle East respiratory syndrome (MERS) is considered to be <1. However, this does not explain the large-scale outbreaks of MERS that occurred in Kingdom of Saudi Arabia (KSA) and South Korean hospitals., Aim: To estimate R 0 in nosocomial outbreaks of MERS., Methods: R 0 was estimated using the incidence decay with an exponential adjustment model. The KSA and Korean outbreaks were compared using a line listing of MERS cases compiled using publicly available sources. Serial intervals to estimate R 0 were assumed to be six to eight days. Study parameters [R 0 and countermeasures (d)] were estimated by fitting a model to the cumulative incidence epidemic curves using Matlab., Findings: The estimated R 0 in Korea was 3.9 in the best-fit model, with a serial interval of six days. The first outbreak cluster in a hospital in Pyeongtaek had an R 0 of 4.04, and the largest outbreak cluster in a hospital in Samsung had an R 0 of 5.0. Assuming a six-day serial interval, the KSA outbreaks in Jeddah and Riyadh had R 0 values of 3.9 and 1.9, respectively., Conclusion: R 0 for the nosocomial MERS outbreaks in KSA and South Korea was estimated to be in the range of 2-5, which is significantly higher than the previous estimate of <1. Therefore, more comprehensive countermeasures are needed to address these infections., (Copyright © 2017 The Healthcare Infection Society. Published by Elsevier Ltd. All rights reserved.)

Background: Bakanae or foot rot disease is a prominent disease of rice caused by Gibberella fujikuroi. This disease may infect rice plants from the pre-emergence stage to the mature stage. In recent years, raising rice seedlings in seed boxes for mechanical transplanting has increased the incidence of many seedling diseases; only a few rice varieties have been reported to exhibit resistance to bakanae disease. In this study, we attempted to identify quantitative trait loci (QTLs) conferring bakanae disease resistance from the highly resistant japonica variety Wonseadaesoo., Results: A primary QTL study using the genotypes/phenotypes of the recombinant inbred lines (RILs) indicated that the locus qBK1 WD conferring resistance to bakanae disease from Wonseadaesoo was located in a 1.59 Mb interval delimited on the physical map between chr01&#95;13542347 (13.54 Mb) and chr01&#95;15132528 (15.13 Mb). The log of odds (LOD) score of qBK1 WD was 8.29, accounting for 20.2% of the total phenotypic variation. We further identified a gene pyramiding effect of two QTLs, qBK WD and previously developed qBK1. The mean proportion of healthy plant for 31 F 4 RILs that had no resistance genes was 35.3%, which was similar to that of the susceptible check variety Ilpum. The proportion of healthy plants for the lines with only qBK WD or qBK1 was 66.1% and 55.5%, respectively, which was significantly higher than that of the lines without resistance genes and that of Ilpum. The mean proportion of the healthy plant for 15 F 4 RILs harboring both qBK WD and qBK1 was 80.2%, which was significantly higher than that of the lines with only qBK WD or qBK1., Conclusion: Introducing qBK WD or pyramiding the QTLs qBK WD and qBK1 could provide effective tools for breeding rice with bakanae disease resistance. To our knowledge, this is the first report on a gene pyramiding effect that provides higher resistance against bakanae disease.

Background: We aimed to evaluate the brain morphology of patients with genetic generalized epilepsy (GGE) compared to healthy subjects. In addition, we investigated whether there are differences in brain morphology among different GGE syndromes., Methods: We enrolled 100 patients with a clinical diagnosis of GGE. The patients were classified into different syndrome groups according to their predominant seizure type, age of seizure onset, and electroencephalography characteristics (12 childhood absence epilepsy [AE], 13 juvenile AE, 56 juvenile myoclonic epilepsy, and 19 epilepsy with generalized tonic-clonic alone). We used surface-based morphometry of brain magnetic resonance imaging to evaluate brain morphology., Results: We found significantly widespread alterations of brain morphology, including cortical thickness and volumes in several regions in the patients with GGE compared to healthy controls. In addition, we observed significant differences in alterations of cortical thickness and volumes among the different GGE syndromes. However, there were no differences in cortical surface areas between the patients with GGE and healthy controls. There was a significantly negative correlation between the duration of epilepsy and most of the each measures of abnormal brain morphology., Conclusions: The main finding of this study is that brain morphology in patients with GGE is significantly different from that in healthy controls. In addition, we found that the different GGE syndromes show distinct structural brain morphology, especially cortical thickness, which can help us understand the pathogenesis of GGE syndromes., (© 2019 S. Karger AG, Basel.)

Purpose: When ictal EEG is discordant with MRI and other presurgical data, our group has sometimes discounted the ictal findings and proceeded with epilepsy surgical resection based on MRI. We aimed to evaluate the prudence of such practice by comparing the outcome of MRI-lesional epilepsy surgery patients with discordant ictal EEG with those with concordant ictal EEG., Method: We retrospectively studied 115 children with epilepsy who underwent surgical resection of an MRI lesion that was corroborated as the epileptogenic focus by other presurgical findings. Ictal findings on video-EEG were categorized as: "positive ictal EEG" if the ictal onset localization was concordant with MRI and other presurgical data; "negative ictal EEG" if the ictus was discordant with them. Seizure-free outcome at 2 years was compared between the "positive" and the "negative" ictal EEG groups., Results: Seizure-free outcome did not differ between children with positive ictal EEG (73%) and those with negative ictal EEG (80%). Positive ictal EEG did not result in better outcome regardless of the location of the surgery or the pathology of the lesion. Ictal EEG with 73% positive predictive value provided no added benefit in this cohort whose seizure-free outcome was of 77% irrespective of ictal EEG findings., Conclusions: In our selected cohort of pediatric epilepsy surgery patients with an epileptogenic lesion on MRI and concordant other data, ictal EEG had limited predictive value. This calls into question the additive role of ictal recordings in patients with an MRI lesion and concordant other presurgical data., (Copyright © 2017. Published by Elsevier Ltd.)

OBJECTIVE Thalamic stimulation can provoke electroencephalography (EEG) synchronization or desynchronization, which can help to reduce the occurrence of seizures in intractable epilepsy, though the underlying mechanism is not fully understood. Therefore, the authors investigated changes in EEG electrical activity to better understand the seizure-reducing effects of deep brain stimulation (DBS) in patients with intractable epilepsy. METHODS Electrical activation patterns in the epileptogenic brains of 3 patients were analyzed using classical low-resolution electromagnetic tomography analysis recursively applied (CLARA). Electrical activity recorded during thalamic stimulation was compared with that recorded during the preoperative and postoperative off-stimulation states in patients who underwent anterior thalamic nucleus DBS for intractable epilepsy. RESULTS Interictal EEG was fully synchronized to the β frequency in the postoperative on-stimulation period. The CLARA showed that electrical activity during preoperative and postoperative off-stimulation states was localized in cortical and subcortical areas, including the insular, middle frontal, mesial temporal, and precentral areas. No electrical activity was localized in deep nucleus structures. However, with CLARA, electrical activity in the postoperative on-stimulation period was localized in the anterior cingulate area, basal ganglia, and midbrain. CONCLUSIONS Anterior thalamic stimulation could spread electrical current to the underlying neuronal networks that connect with the thalamus, which functions as a cortical pacemaker. Consequently, the thalamus could modify electrical activity within these neuronal networks and influence cortical EEG activity by inducing neuronal synchronization between the thalamus and cortical structures.

Objectives: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy., Study Design: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities. The nongenetic group included epilepsy of unknown cause and structural abnormalities such as brain tumor, focal cortical dysplasia and encephalomalacia. The clinical features, magnetic resonance imaging, and video EEG obtained before 3 years of age and again at follow-up were reviewed. Specifically, the background rhythms and patterns of interictal epileptiform discharges were analyzed to define the EEG characteristics., Results: The genetic group was more likely to have seizure recurrence beyond infancy and significant developmental delay (P <.01). The genetic and nongenetic groups showed different EEG patterns in the initial EEGs that persisted in follow-up EEGs. Diffuse slowing with pleomorphic focal/multifocal epileptiform discharges were present more often in the genetic (86%) compared with the nongenetic group (20%) in the initial EEGs (P <.01). The last available follow-up EEG features were similar (81% in genetic versus 17% in nongenetic) to the EEG performed prior to 3 years of age., Conclusions: Our findings suggest a simple guide for genetic screening in children with early-onset epilepsy. Genetic testing may be indicated and useful in infants with delayed development, no obvious cause, and significant EEG background slowing with pleomorphic focal or multifocal epileptiform discharges., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Drought is an important limiting factor for rice production, but the genetic mechanisms of drought tolerance is poorly understood. Here, we screened 218 rice varieties to identify 32 drought-tolerant varieties. The variety Samgang exhibited strong drought tolerance and stable yield in rain-fed conditions and was selected for further study. To identify QTLs for drought tolerance, we examined visual drought tolerance (VDT) and relative water content (RWC) phenotypes in a doubled haploid (DH) population of 101 individuals derived from a cross between Samgang and Nagdong (a drought-sensitive variety). Three QTLs from Samgang were identified for VDT and explained 41.8% of the phenotypic variance. In particular, qVDT11 contributed 20.3% of the phenotypic variance for RWC. To determine QTL effects on drought tolerance in rain-fed paddy conditions, seven DH lines were selected according to the number of QTLs they contained. Of the drought-tolerance-associated QTLs, qVDT2 and qVDT6 did not affect tiller formation, but qVDT11 increased tiller number. Tiller formation was most stable when qVDT2 and qVDT11 were combined. DH lines with both of these drought-tolerance-associated QTLs exhibited the most stable tiller formation. Together, these results suggest that qVDT11 is important for drought tolerance and stable tiller formation in rain-fed paddy fields., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Background: Transmission heterogeneity was observed during the 2015 South Korean outbreak of Middle East respiratory syndrome coronavirus (MERS-CoV) infection. Only 22 of 186 cases transmitted the infection, and 5 super-spreading events caused 150 transmissions. We investigated the risk factors for MERS-CoV transmission., Methods: Epidemiological reports were used to classify patients as non-spreaders, spreaders (1-4 transmission), or those associated with super-spreading event (≥4 transmissions). Logistic regression analyses were used to evaluate the factors that influenced MERS-CoV transmission., Results: Compared to non-spreaders, spreaders exhibited a longer interval from symptom onset to isolation (7 days vs. 3 days) and more frequent pre-isolation pneumonia diagnoses (68.2% vs. 17.1%). Spreaders also exhibited higher values for pre-isolation contacts (149 vs. 17.5), pre-isolation hospitalization (68.2% vs. 16.5%), and emergency room visits (50% vs. 7.3%). Spreaders exhibited lower cycle thresholds for the upE and ORF1a genes (22.7 vs. 27.2 and 23.7 vs. 27.9, respectively). Transmission was independently associated with the cycle threshold (odds ratio [OR]: 0.84, 95% confidence interval [CI]: 0.75-0.96) and pre-isolation hospitalization or emergency room visits (OR: 6.82, 95% CI: 2.06-22.84). The spreaders with ≥4 transmissions exhibited higher values for pre-isolation contacts (777 vs. 78), pre-isolation emergency room visits (100% vs. 35.3%), and doctor-shopping (100% vs. 47.1%), compared to other spreaders., Conclusions: These findings indicate that transmission is determined by host infectivity and the number of contacts, whereas super-spreading events were determined by the number of contacts and hospital visits. These relationships highlight the importance of rapidly enforcing infection control measures to prevent outbreaks., (© The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.)

Objective: The purpose of the current study was to characterize the frequency profiles of epileptogenic regions, independent of visible epileptiform discharges, in intracranial EEG (iEEG) recordings of Lennox-Gastaut syndrome (LGS) patients., Methods: We selected eight LGS patients who underwent resective surgery in the absence of definite neuroimaging findings. We calculated the absolute and relative band powers of continuous spike-free iEEG data and compared the characteristics of the resected and remaining regions., Results: For absolute band powers, there was a trend for higher absolute gamma band power in the remaining brain section. We also found that the absolute delta power in the resected area was higher than that in the remaining area. However, this trend was not statistically different in all patients. For relative band powers, we found decreased relative band power in the beta and gamma band ranges within the areas defined by the surgical margins. Delta, theta, and alpha relative band power differences between the resected and remaining areas were inconsistent between the subjects., Conclusions: Our results showed systematic relative beta and gamma band power variation in the resected areas of LGS patients., (Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene ( SLC2A1 ) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9., Competing Interests: No potential conflict of interest relevant to this article was reported.

Background: There have been a few reports of patients who developed Lennox-Gastaut syndrome (LGS) in the second decades of their life., Objectives: The aim of this study was to investigate electroclinical presentation in patients with late-onset LGS. In addition, we evaluated structural abnormalities of the brain, which may give some clue about the common pathogenic pathway in LGS., Materials and Methods: We enrolled the patients with late-onset LGS. We collected electroclinical characteristics of the patients and evaluated structural abnormalities using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) analysis., Results: The three subjects were diagnosed with late-onset LGS. The patients have no mental retardation and normal background activities on electroencephalography (EEG), and they had generalized paroxysmal fast activities on EEG, especially during sleep. The TBSS analysis revealed that fractional anisotropy values in the patients were significantly reduced in the white matter of brainstem compared with normal controls. However, VBM analysis did not show any significant difference between the patients and normal controls., Conclusions: Patients with late-onset LGS have different clinical and EEG characteristics from those with early-onset LGS. In addition, we demonstrated that brainstem dysfunction might contribute to the pathogenesis of late-onset LGS., Competing Interests: There are no conflicts of interest.

Key Message: We fine mapped the Xa4 locus and developed a pyramided rice line containing Xa3 and Xa4 R - alleles and a cold-tolerance QTL. This line will be valuable in rice breeding. Bacterial blight (BB) caused by Xanthomonas oryzae pv. oryzae (Xoo) is a destructive disease of cultivated rice. Pyramiding BB resistance genes is an essential approach for increasing the resistance level of rice varieties. We selected an advanced backcross recombinant inbred line 132 (ABL132) from the BC3F7 population derived from a cross between cultivars Junam and IR72 by K3a inoculation and constructed the mapping population (BC4F6) to locate the Xa4 locus. The Xa4 locus was found to be delimited within a 60-kb interval between InDel markers InDel1 and InDel2 and tightly linked with the Xa3 gene on chromosome 11. After cold (4 °C) treatment, ABL132 with introgressions of IR72 in chromosome 11 showed lower survival rate, chlorophyll content, and relative water content compared to Junam. Genetic analysis showed that the cold stress-related quantitative trait locus (QTL) qCT11 was located in a 1.3-Mb interval close to the Xa4 locus. One line, ABL132-36, containing the Xa3 resistance allele from Junam, the Xa4 resistance allele from IR72, and the cold-tolerance QTL from Junam (qCT11), was developed from a BC4F6 population of 250 plants. This is the first report on the pyramiding of Xa3 and Xa4 genes with a cold-tolerance QTL. This region could provide a potential tool for improving resistance against BB and low-temperature stress in rice-breeding programs.

In this study, complete chloroplast genome sequences of Rhus chinensis was characterized by de novo assembly using whole genome sequence data. The chloroplast genome of R. chinensis were 149,011bp long, which was comprised of a large single copy region of 96,882 bp, a small single copy region of 18,647bp, and a pair of inverted repeats of 16,741 bp. The genome contained 77 protein-coding genes, four rRNA genes and 30 tRNA genes. Phylogenetic tree revealed that R. chinensis was closely grouped with Spondias species, S. tuberosa and S. bahiensis, belonging to the Anacardiaceae family., Competing Interests: The authors report no conflict of interest. The authors alone are responsible for the content and writing of the paper., (© 2016 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.)

Objective: Callosotomy can reveal hidden primary epileptogenic areas in Lennox-Gastaut syndrome (LGS). We studied the significance of causal connectivity for identifying hidden epileptogenic areas in preoperative electroencephalography (EEG) and for making a decision regarding resective surgery., Methods: We enrolled 18 LGS patients who underwent corpus callosotomy. Eight patients with unilateral epileptogenicity on post-callosotomy EEG underwent resective surgery (group A). Ten patients with independent bilateral epileptogenicity did not undergo resective surgery (group B). We analyzed generalized epileptiform discharges on pre-callosotomy EEG via direct directed transfer function (dDTF) and partial directed coherence (PDC)., Results: All regions exhibiting unilaterality in group A and bilaterality identified by dDTF or PDC in group B were concordant with the lateralization of the irritative zone on post-callosotomy EEG and with the localization of the resective areas, except for one patient in group A. The regions identified by dDTF exhibited high concordance rates with the resective areas in patients with good outcomes., Conclusions: Causal connectivity methods showed good concordance with hidden epileptogenic areas, and its concordance was associated with the prognosis of surgical outcome., Significance: This study provides evidence that causal connectivity methods can be helpful in deciding which type of surgery will be suitable for an LGS patient., (Copyright © 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)

We report 3 experiments examining the effects of positive versus negative valence and perceptual load in determining attention capture by irrelevant emotional distractors. Participants performed a letter search task searching for 1 of 2 target letters (X or N) in conditions of either low perceptual load (circular nontarget letters) or high perceptual load (angular nontarget letters that are similar to the target letters). On 25% of the trials an irrelevant emotional distractor was presented at the display center and participants were instructed to ignore it. The distractor stimulus was either positive or negative and was selected from 3 different classes: IAPS pictures of erotica or mutilated bodies (Experiment 1), happy or angry faces (Experiment 2), and faces associated with gain or loss in a prior value-learning phase involving a betting game (Experiment 3). The results showed a consistent pattern of interaction of load and valence across the 3 experiments. Irrelevant emotional distractors produced interference effects on search reaction time (RT) in conditions of low load, with no difference between negative and positive valence. High perceptual load, however, consistently reduced interference from the negative-valence distractors, but had no effect on the positive-valence distractors. As these results were consistently found across 3 different categories of emotional distractors, they suggest the general conclusion that attentional capture by irrelevant emotional distractors depends on both their valence and the level of perceptual load in the task and highlight the special status of distractors associated with pleasure., ((c) 2016 APA, all rights reserved).)

Purpose: Lennox-Gastaut syndrome (LGS) can be successfully treated by resective surgery in patients with a primary epileptogenic zone. This study aimed to identify the primary epileptogenic zone based on the causal epileptic network using direct directed transfer function (dDTF) analysis., Methods: We reviewed the dDTF findings for generalized sharp and wave discharges (GSW) from the preoperative electroencephalography (EEG) of 12 LGS patients (group A) with unilateral focal pathology who were successfully treated with resective surgery. These findings were compared with preoperative dDTF findings for the GSW from 15 LGS patients with bilateral non-resectable pathology (group B) who exhibited persistent bilateral independent diffuse sharp and wave discharges, even after corpus callosotomy., Results: The dDTF analysis of the GSW revealed concordant findings of localization or lateralization with the primary epileptogenic zone in 83.3% (10/12 cases) of group A patients and bilateral or multifocal localization in 93.3% (14/15) of group B patients (p<0.01). The regions identified by dDTF analysis were included in the resected areas of all patients in group A, and complete matches of the resected areas without other foci were observed in 7 patients (58.3%) in group A. The region of GSW most frequently identified by dDTF analysis was the frontal area, which was identified in 91.7% (11/12) of group A and in 100% of group B, while extra-frontal areas were identified in 36.1% and 24.5% of groups A and B, respectively., Conclusions: The dDTF analysis of GSW could provide additional information to identify resective surgery candidates for patients with LGS., (Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Objective: We hypothesize that pre-existing susceptible structures in the brain may be associated with the development of newly diagnosed partial epilepsy of unknown etiology., Methods: Twenty-two patients with newly diagnosed partial epilepsy of unknown etiology and 36 healthy controls were enrolled in this study. In addition, we included 24 patients with chronic partial epilepsy of unknown etiology as a disease control group. We analyzed whole-brain T1-weighted MRIs using FreeSurfer 5.1. The volumes of the hippocampus, amygdala, thalamus, caudate, putamen, pallidum, brainstem, cerebellar gray and white matter, as well as cerebral gray and white matter were compared between the groups. We also analyzed the changes in brain volumes associated with the chronicity of epilepsy in the patients with chronic epilepsy compared to newly diagnosed epilepsy., Results: The volume of cerebellar white matter in patients with newly diagnosed epilepsy was significantly smaller than that which was observed in the healthy controls (p=0.0001). This finding was also observed in patients with chronic epilepsy (p<0.0001). Cerebral white matter volume was negatively correlated with the duration of epilepsy (r=-0.4, p=0.04)., Conclusion: These findings support our hypothesis that cerebellar white matter changes may constitute a pre-existing susceptible structure in the brain that is associated with the development of partial epilepsy of unknown etiology. In addition, cerebral white matter was the structure that was the most vulnerable to the progression of epilepsy., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Symptoms of a peritoneal progression from ovarian cancer are nonspecific such as abdominal pain, abdominal distention and more. Many imaging studies and serum CA-125 help diagnosis. However, it is difficult to exclude the instances of the diffuse peritoneal diseases that mimic carcinomatosis. The elevated CA-125 level usually correlates with the peritoneal carcimatosis, but it is often found in other peritoneal diseases. Therefore, the pathologic confirmation is necessary because of other mimicking diseases. In our case, CA-125 levels were elevated. Abdominal computed tomography finding was suspected a peritoneal tuberculosis but the pathologic result was the peritoneal carcimatosis, eventually.

Key Message: We obtained interesting results for genetic analysis and molecular mapping of the du12(t) gene. Control of the amylose content in rice is the major strategy for breeding rice with improved quality. In this study, we conducted genetic analysis and molecular mapping to identify the dull gene in the dull rice, Milyang262. A single recessive gene, tentatively designated as du12(t), was identified as the dull gene that leads to the low amylose character of Milyang262. To investigate the inheritance of du12(t), genetic analysis on an F2 population derived from a cross between the gene carrier, Milyang262, and a moderate amylose content variety, Junam, was conducted. A segregation ratio of 3:1 (χ (2) = 1.71, p = 0.19) was observed, suggesting that du12(t) is a single recessive factor that controls the dull character in Milyang262. Allelism tests confirmed that du12(t) is not allelic to other low amylose controlling genes, wx or du1. Recessive class analysis was performed to localize the du12(t) locus. Mapping of du12(t) was conducted on F2 and F3 populations of Baegokchal/Milyang262 cross. Linkage analysis of 120 F2 plants revealed that RM6926 and RM3509 flank du12(t) at a 2.38-Mb region. To refine the du12(t) locus position, 986 F2 and 289 F3 additional normal plants were screened by the flanking markers. Twenty-six recombinant plants were identified and later genotyped with four additional adjacent markers located between RM6926 and RM3509. Finally, du12(t) was mapped to an 840-kb region on the distal region of the long arm of chromosome 6, delimited by SSR markers RM20662 and RM412, and co-segregated by RM3765 and RM176.

Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This deletion or cytogenetic abnormality has been reported primarily from Europe, Australia and the United States, but not in Korea. Here we report a patient with characteristic facial features of MWS, developmental delay and spasticity. High resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two genes: ZEB2 and GTDC1. This case shows the important role of high resolution microarray in patients with unexplained psychomotor retardation and/or facial dysmorphism. Knowledge about the most striking clinical signs and implementation of effective molecular tests like microarray could significantly increase the detection rate of new cases of MWS in Korea. This is the first reported case of MWS in Korea., (© 2013.)

Visual disturbances are common among women with pre-eclampsia. The obstetricians should have an understanding of the various conditions associated with visual impairments. We report a case of Purtscher-like retinopathy developed after pre-eclampsia combined with acute pancreatitis. A 33-year-old primigravida with twin pregnancy was admitted to the department of obstetrics and gynecology for preterm labor and pre-eclampsia at 36+4 weeks gestation. After a cesarean section, she complained of abdominal pain and visual acuity loss. She was diagnosed with Purtscher-like retinopathy combined with acute pancreatitis after ophthalmologic examination and an abdominal computed tomography scan. Purtscher-like retinopathy, most often observed after trauma, is very rare in pre-eclampsia. In addition, while visual disturbances from other conditions are transient, it can result in persistent visual impairments. Thus, when a patient with pre-eclampsia complains of visual problems for a long period of time, obstetricians should consider an ophthalmologic evaluation and treatments during the earliest stage of the disease.

Chromosome 1q41q42 microdeletions have been classified as a syndrome consisting of significant developmental delay, seizures, and characteristic dysmorphic features. They harbor different breakpoints and their smallest region of overlap at 1q41q42 involves several genes, including DISP1. Deletion or variants of DISP1 have been proposed as a candidate for the midline defects in this syndrome but may not be responsible for its major features in some cases. We report here a patient with a 183-kb deletion in chromosome 1q41, representing the smallest deletion identified among cases of the 1q41q42 microdeletion syndrome. The involved genes are DISP1 and TLR5. This patient developed seizures and developmental delay but showed no facial dysmorphism or organ defects. This deleted region was inherited from a phenotypically normal parent. This case may help define the role of the DISP1 haploinsufficiency in phenotype and support the suggestion that DISP1 mutation or deletion may reveal incomplete penetrance., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Purpose: To demonstrate the significance of simultaneous electroencephalography (EEG) recording during 2-deoxy-2-[(18)F] fluoro-D-glucose (FDG)-positron emission tomography (PET) in childhood partial epilepsy., Materials and Methods: We included 46 children with partial epilepsy who underwent simultaneous EEG during PET. We compared the epileptogenic area of several EEG features including epileptiform discharges, focal polymorphic slow waves, and electrographic seizures, with the abnormal metabolic region on PET. We also compared the epileptogenic area of simultaneous EEG and PET with findings on magnetic resonance imaging (MRI) and video/EEG, as well as the histopathological diagnosis of the resected cortical area, in eight patients who underwent surgical resection of the epileptogenic area., Results: Hypometabolic regions on interictal PET were concordant with epileptogenic areas of epileptiform discharges and focal polymorphic slow waves, according to their frequency and/or severity, with odds ratios of 1.35 and 1.81, respectively (p<0.05). Hypermetabolic PET was also concordant with epileptogenic areas of ictal events longer than 20 seconds during the period of FDG uptake. Among the eight patients who underwent surgical resection, six patients, including two with non-lesional MRI, had concordant EEG and PET findings, were confirmed pathologically, and became seizure-free after surgery., Conclusion: Simultaneous EEG is useful in identifying epileptogenic areas due to a high concordance with abnormal PET metabolic areas. Moreover, simultaneous EEG may also prevent false lateralization of PET from postictal and mixed metabolism during ictal events, as well as abnormal hypermetabolism, during frequent interictal epileptiform discharges.

Neurological complications associated with 2009 H1N1 infection in children have been reported and recognized worldwide. The most commonly reported neurological complications are seizures and encephalopathy. Secondary movement disorders are also associated with the infection, but such cases are rarely reported. Here, we describe the case of a 14-year-old boy with paroxysmal kinesigenic dyskinesia secondary to 2009 H1N1 infection, who presented with dystonia and choreic movement triggered by sudden voluntary movement.

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

The ubiquitin-26S proteasome system is important in the quality control of intracellular proteins. The ubiquitin-26S proteasome system includes the E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligase) enzymes. U-box proteins are a derived version of RING-finger domains, which have E3 enzyme activity. Here, we present the isolation of a novel U-box protein, U-box containing E3 ligase induced by phosphate starvation (OsUPS), from rice (Oryza sativa). The cDNA encoding the O. sativa U-box protein (OsUPS) comprises 1338 bp, with an open reading frame of 445 amino acids. The amino acid sequence of OsUPS cDNA shows 41-79% identity with other plant U-box homologous genes. The open reading frame of the OsUPS protein is comprised of notable domains: a single ~70-amino acid domain and a GKL domain that contains conserved glycine, lysine/arginine residues and leucine-rich feature. We found that full-length expression of OsUPS was up-regulated in both rice plants and cell culture in the absence of inorganic phosphate (P(i)). A self-ubiquitination assay indicated that the bacterially expressed OsUPS protein had E3 ligase activity, and subcellular localization results showed that OsUPS was located in the chloroplast. These results support the notion that OsUPS plays an important role in the P(i) signaling pathway through the ubiquitin-26S proteasome system.

X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China and Japan, but not in Korea. This case report describes a Korean boy diagnosed with X-ALD. Direct sequencing for the ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). This missense variant was novel and predicted to be possibly damaging by the PolyPhen and SIFT prediction software. Moreover, this is the first report in Korean., (Copyright © 2012 Elsevier B.V. All rights reserved.)

This study evaluated the effect of topiramate (TPM) on the quality of life (QOL) in childhood epilepsy, using the Korean quality of life in childhood epilepsy (K-QOLCE) questionnaire. An open label, prospective, observational study of the families of 664 children with epilepsy from 41 centers was conducted. The parents completed the K-QOLCE at the baseline visit and again 6months after starting TPM treatment. The parents reported the seizure frequency at both assessment dates. Statistically significant improvements in all K-QOLCE domains except social functioning were found at 6months after starting TPM treatment from the baseline-scores (P<0.05). However, improved QOL scores were not dependent on the reduction in seizure frequency. TPM significantly improved QOL in children with epilepsy, suggesting its potential clinical benefits., (Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)