A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy

Purpose: To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti's crystalline corneoretinal dystrophy (BCD). Methods: Using direct sequencing, mutation screening was performed in the CYP4V2 gene of both the patient with BCD and her daughter. Ophthalmic examinations were performed to determine the clinical features of both subjects. Results: The 64-year-old female patient had a bilateral visual acuity of 0.4. Slit lamp examination revealed bilateral crystalline-like deposits at the superior limbus of the cornea. Fundus examination revealed there was chorioretinal atrophy along with numerous glistening yellowish-white crystalline deposits that were scattered throughout the posterior pole and the mid-peripheral retina. Standard flash electroretinography showed an extinguished electroretinogram and Goldmann kinetic perimetry detected a relative scotoma. Genetic analysis revealed that the patient had a heterozygous mutation in the CYP4V2 gene (IVS6-8delTCATACAGGTCATCGCG/GC), which is the most commonly found mutation in Japanese patients with BCD. Furthermore, the patient was also shown to have a novel heterozygous point mutation in exon 9 of the CYP4V2 gene (c.1168C>T). In contrast, her daughter exhibited no clinical findings for BCD even though she carried the same heterozygous mutation in the CYP4V2 gene (c.1168C>T). Conclusion: A novel compound heterozygous mutation was found in the CYP4V2 gene of a patient with BCD. This previously unreported c.1168C>T mutation causes a missense mutation (p.R390C) in the CYP4V2 protein

Post-Traumatic Stress Disorder Among Senior Victims of Tsunami-Affected Areas in Southern Sri Lanka

Background: On 26 December 2004, a large earthquake occurred off the coast of Sumatra, and a devastating tsunami struck surrounding countries. Sri Lanka was seriously affected, with more than 31,000 deaths and 4,000 people missing. Objective: To elucidate the relationship between factors of tsunami-related exposure and mental health conditions among the senior residents of tsunami-affected areas in southern Sri Lanka. Subjects: A total of 90 subjects (43 men, 47 women) aged 60 years or older who were living in the Matara district at the time of the tsunami attack. Methods: A survey by interview using a structured questionnaire was conducted in 2008. The collected information included demographic factors, tsunami-related exposure and mental health conditions. The Impact of Event Scale-Revised (IES-R) was used to assess their post-traumatic stress disorder symptoms. Results: The median of the IES-R score was significantly higher in those who were situated at home; those who saw anyone the dead or injured; those whose evacuations were delayed; those whose family member or friend was injured; those who were injured; those who lost their children, spouse or family members; those whose family member was missing; those who lost livelihood, compared with those who were not or those who did not. Multiple linear regression analysis showed that younger age and loss of or injury to family members due to the tsunami were significantly associated with an increase in IES-R score. Conclusion: The results indicate that tsunami-related exposures have affected elderly survivors\u27 mental health

Molecular Characteristics of Extended-Spectrum Beta-Lactamases and qnr Determinants in Enterobacter Species from Japan

The incidence of extended-spectrum β-lactamases (ESBLs) has been increasing worldwide, but screening criteria for detection of ESBLs are not standardized for AmpC-producing Enterobacteriaceae such as Enterobacter species. In this study, we investigated the prevalence of ESBLs and/or AmpC β-lactamases in Japanese clinical isolates of Enterobacter spp. and the association of plasmid-mediated quinolone resistance (PMQR) determinants with ESBL producers. A total of 364 clinical isolates of Enterobacter spp. collected throughout Japan between November 2009 and January 2010 were studied. ESBL-producing strains were assessed by the CLSI confirmatory test and the boronic acid disk test. PCR and sequencing were performed to detect CTX-M, TEM, and SHV type ESBLs and PMQR determinants. For ESBL-producing Enterobacter spp., pulsed-field gel electrophoresis (PFGE) was performed using XbaI restriction enzyme. Of the 364 isolates, 22 (6.0%) were ESBL producers. Seven isolates of Enterobacter cloacae produced CTX-M-3, followed by two isolates producing SHV-12. Two isolates of Enterobacter aerogenes produced CTX-M-2. Of the 22 ESBL producers, 21 had the AmpC enzyme, and six met the criteria for ESBL production in the boronic acid test. We found a significant association of qnrS with CTX-M-3-producing E. cloacae. The 11 ESBL-producing Enterobacter spp. possessing blaCTX-M, blaSHV, or blaTEM were divided into six unique PFGE types. This is the first report about the prevalence of qnr determinants among ESBL-producing Enterobacter spp. from Japan. Our results suggest that ESBL-producing Enterobacter spp. with qnr determinants are spreading in Japan

Discharge Synchrony during the Transition of Behavioral Goal Representations Encoded by Discharge Rates of Prefrontal Neurons

To investigate the temporal relationship between synchrony in the discharge of neuron pairs and modulation of the discharge rate, we recorded the neuronal activity of the lateral prefrontal cortex of monkeys performing a behavioral task that required them to plan an immediate goal of action to attain a final goal. Information about the final goal was retrieved via visual instruction signals, whereas information about the immediate goal was generated internally. The synchrony of neuron pair discharges was analyzed separately from changes in the firing rate of individual neurons during a preparatory period. We focused on neuron pairs that exhibited a representation of the final goal followed by a representation of the immediate goal at a later stage. We found that changes in synchrony and discharge rates appeared to be complementary at different phases of the behavioral task. Synchrony was maximized during a specific phase in the preparatory period corresponding to a transitional stage when the neuronal activity representing the final goal was replaced with that representing the immediate goal. We hypothesize that the transient increase in discharge synchrony is an indication of a process that facilitates dynamic changes in the prefrontal neural circuits in order to undergo profound state changes

ゼンシンマスイノショジョウケントクニドウニュウキニオケルズイエキアツノヘンドウノリンショウテキカンサツ

京都大学0048新制・論文博士医学博士乙第2730号論医博第589号新制||医||195(附属図書館)4048UT51-50-E48(主査)教授 半田 肇, 教授 日笠 頼則, 教授 森 健次郎学位規則第5条第2項該当Kyoto UniversityDA

Prediction of Current-Dependent Motor Torque Characteristics Using Deep Learning for Topology Optimization

In this study, we propose a fast topology optimization (TO) method based on a deep neural network (DNN) that predicts the current-dependent motor torque characteristics using its cross-sectional image. The trained DNN is shown to provide the current condition that provides the maximum torque under the assumed motor control method. The proposed method helps perform TO with a reduced number of field computations while maintaining a high search capability

Post-Traumatic Stress Disorder Among Senior Victims of Tsunami-Affected Areas in Southern Sri Lanka

Background: On 26 December 2004, a large earthquake occurred off the coast of Sumatra, and a devastating tsunami struck surrounding countries. Sri Lanka was seriously affected, with more than 31,000 deaths and 4,000 people missing. Objective: To elucidate the relationship between factors of tsunami-related exposure and mental health conditions among the senior residents of tsunami-affected areas in southern Sri Lanka. Subjects: A total of 90 subjects (43 men, 47 women) aged 60 years or older who were living in the Matara district at the time of the tsunami attack. Methods: A survey by interview using a structured questionnaire was conducted in 2008. The collected information included demographic factors, tsunami-related exposure and mental health conditions. The Impact of Event Scale-Revised (IES-R) was used to assess their post-traumatic stress disorder symptoms. Results: The median of the IES-R score was significantly higher in those who were situated at home; those who saw anyone the dead or injured; those whose evacuations were delayed; those whose family member or friend was injured; those who were injured; those who lost their children, spouse or family members; those whose family member was missing; those who lost livelihood, compared with those who were not or those who did not. Multiple linear regression analysis showed that younger age and loss of or injury to family members due to the tsunami were significantly associated with an increase in IES-R score. Conclusion: The results indicate that tsunami-related exposures have affected elderly survivors' mental health