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

Tyrosine kinase, phosphatidylinositol 3-kinase, and protein kinase C regulate insulin-stimulated NaCl absorption in the thick ascending limb

Tyrosine kinase, phosphatidylinositol 3-kinase, and protein kinase C regulate insulin-stimulated NaCl absorption in the thick ascending limb. We have previously shown a direct stimulatory effect of insulin on NaCl absorption in the medullary thick ascending limb of Henle's loop (mTAL). To further investigate the signal transduction involved, we determined whether tyrosine kinase, phosphatidylinositol 3-kinase (PI3-kinase), and/or protein kinase C (PKC) regulate insulin-stimulated NaCl absorption in the mTAL by in vitro microperfusion methods. In control experiments, insulin increased transepithelial voltage (Vte) and net lumen-to-bath Cl− flux (JCl). Genistein and methyl 2,5-dihydroxycinnamate, two specific tyrosine kinase inhibitors, abolished the effects of insulin. Wort-mannin, a specific PI3-kinase inhibitor, inhibited the action of insulin. The effects of insulin also were inhibited by staurosporin and calphostin C, which are dissimilar inhibitors of PKC. These results indicate that insulin stimulates NaCl absorption in the mTAL through tyrosine kinase, PI3-kinase, and PKC-mediated mechanisms. Moreover, because we have reported previously that insulin causes no detectable change in cytosolic free Ca2+ in the mTAL cells, the present results also suggest that insulin-induced PKC activation is not related to inositol 1,4,5-triphosphate (IP3) production

A Rapid and Sensitive Method for Detecting Fenitrothion in Biological Fluids Using the Phosphorus-Sulfur Selective Detector: a fenitrothion intoxication case

Fenitrothion (sumithion) in biological fluids of a patient, who attempted suicide by ingesting of fenitrothion, was separated and purified by Extrelut® column extraction. A gas chromatograph equipped with a flame photometric detec1 or and a gas chromatograph-mass spectrometer were used for a detection of fenitrothion. A 41-year-old female, who attempted suicide by ingesting about 30 ml of Sumithion® (40% fenitrothion), started to vomit spontaneously and recurringly, and was transported to a hospital 3 hr after the ingestion. The patient was almost fully conscious and the diameter of her pupils was 3 mm on both sides. The fenitrothion concentration in the blood sample was 260 ng/g and was less than 6 ng/g in the urine sample both of which were collected 4 hr after ingestion. Aminofenitrothion, 4-nitro-3-methyl phenol, S-methylfenitrothion, phenobarbital and lidocaine were identified in the ethyl ether extract of the urine sample. After ingestion, the serum cholinesterase activity (normal range: 175-440 IU) was 104 at hr, 38 at 1 day, 85 at 2 days, 102 at 3 days and 137 at 4 days

Pensée et action socio-éducative dans des contextes de l’enseignement secondaire. Une étude descriptive et de corrélation

Este artículo refiere resultados de un proyecto de investigación más amplio que engloba diferentes unidades de análisis relacionadas con el educador social y su acción profesional. Pretendemos describir y justificar la intervención socioeducativa que desempeñan los educadores sociales en los centros de enseñanza, por este motivo planteamos en las comunidades de Castilla La Mancha y Extremadura un estudio descriptivo-correlacional, dentro del clásico diseño de encuesta, a través de un cuestionario. Los resultados corroboran la creciente irrupción de los educadores sociales en el sistema educativo y las funciones realizadas que nos permite revisar y debatir el papel de los educadores en los centros. Presentamos los resultados parciales que hacen referencia a una de las dimensiones estudiadas referidas, en líneas generales, al perfil del educador social y, más concretamente, a las funciones del mismo en los centros de secundaria colaborando en la respuesta que la sociedad actual demanda a la educación.Cet article présente les résultats d’un projet plus étendu de recherche qui comporte différentes unités d’analyse à propos de l’éducateur spécialisé et son action professionnelle. Pour décrire et justifier l’intervention socio-éducative menée par les éducateurs spécialisés dans les centres d’enseignement, une étude descriptive- corrélationnelle a été réalisée dans les Communautés Autonomes de Castilla la Mancha et de Extremadura au moyen d’un questionnaire crée dans le cadre classique des enquêtes. Les résultats corroborent l’irruption croissante des éducateurs spécialisés dans le système éducatif et les fonctions qui leur sont attachées, ce qui permet de réviser et de débattre le rôle des éducateurs dans les centres. On y présente des résultats partiels d’une des dimensions étudiées concernant, grosso modo, le profil de l’enseignant spécialisé et, plus en particulier, les fonctions qui lui sont attachées dans les centres d’enseignement secondaire pour répondre aux demandes que la société actuelle pose à l’éducation

Blood Flow Changes in the Optic Nerve Head of Albino Rabbits Following Intravenous Administration of Brovincamine Fumarate, an Improver of Cerebral Circulation and Metabolism

Blood flow changes in the optic nerve head of normal, adult albino rabbits following intravenous administration of brovincamine fumarate (BV), an improver of cerebral circulation and metabolism, were investigated employing the hydrogen clearance method. In the BV (0.1 mg/kg)-administered group, the blood flow in the optic nerve head showed a gradual increase immediately after injection and reached a maximal value of 124.2 ± 7.3% against the value before injection at 20 min after injection, followed by a gradual decrease in blood flow. Statistical analysis showed a significant increase (P < 0.05) in blood flow at 10 to 40 min after injection, compared with the value before injection in the BV (0.1 mg/kg)-administered group, but no significant changes in blood flow were observed in either the BV (0.5 mg/kg)-administered group or the control group given no BV throughout the time course. No significant changes in the mean values of the mean blood pressure in the femoral artery, pulse rate, respiratory rate or rectal temperature were observed in any group throughout the experiment. These results indicate the different efficacy of the two doses to the relaxing action of the feeding vessels around the optic nerve head

Auto-tracking camera for dry-box laparoscopic training

While laparoscopic surgery is less invasive than open surgery and is now common in various medical fields, laparoscopic surgery often requires more time for the operator to achieve mastery. Dry box training is one of the most important methods for developing laparoscopic skill. However, the camera is usually fixed to a particular point, which is different from practical surgery, during which the operational field is constantly adjusted by an assistant. Therefore, we introduced a camera for dry box training that can be moved by surgeons as desired by using computer vision. By detecting the ArUco marker, the camera attached onto the servomotor successfully tracked the forceps automatically. This system could easily be modified and become operable by a foot switch or voice, and collaborations between surgeons and medical engineers are expected

Psychosocial twin cohort studies in Japan: the Keio Twin Research Center (KoTReC)

The Keio Twin Research Center (KoTReC) was established in 2009 at Keio University to combine two longitudinal cohort projects — the Keio Twin Study (KTS) for adolescence and adulthood and the Tokyo Twin Cohort Project (ToTCoP) for infancy and childhood. KoTReC also conducted a two-time panel study of self-control and psychopathology in twin adolescence in 2012 and 2013 and three independent anonymous cross-sectional twin surveys (ToTcross) before 2012 — the ToTCross, the Junior and Senior High School Survey and the High School Survey. This article introduces the recent research designs of KoTReC and its publications

Effects of long-term cigarette smoke exposure on bone metabolism, structure, and quality in a mouse model of emphysema

Smoking is a common risk factor for both chronic obstructive pulmonary disease (COPD) and osteoporosis. In patients with COPD, severe emphysema is a risk factor for vertebral fracture; however, the effects of smoking or emphysema on bone health remain largely unknown. We report bone deterioration in a mouse model of emphysema induced by nose-only cigarette smoke (CS) exposure. Unexpectedly, short-term exposure for 4-weeks decreased bone turnover and increased bone volume in mice. However, prolonged exposure for 20- and 40-weeks reversed the effects from suppression to promotion of bone resorption. This long-term CS exposure increased osteoclast number and impaired bone growth, while it increased bone volume. Strikingly, long-term CS exposure deteriorated bone quality of the lumbar vertebrae as illustrated by disorientation of collagen fibers and the biological apatite c-axis. This animal model may provide a better understanding of the mechanisms underlying the deterioration of bone quality in pulmonary emphysema caused by smoking.Effects of long-term cigarette smoke exposure on bone metabolism, structure, and quality in a mouse model of emphysema. Mamoru Sasaki et al. PLOS ONE. 2018. 1(30) doi.org/10.1371/journal.pone.019161

Understanding camouflaging, stigma, and mental health for autistic people in Japan Running head: Autism and camouflaging, stigma, and mental health

Background: Camouflaging refers to behaviors in which autistic individuals mask their autistic characteristics and “pass” as non-autistic people. It is postulated that camouflaging is a response to stigma, and preliminary evidence supports this hypothesis. However, research on this topic outside of Western countries is limited. This study replicated and extended previous work in the West that examined the relationships between camouflaging, stigma, and mental health of autistic adults, with a Japanese sample. Methods: Two-hundred eighty-seven autistic people living in Japan (146 men, 120 women, 14 non-binary, 5 other gender identities, 2 preferred not to say; mean age = 37.5 years, standard deviation = 9.8 years) completed an online survey on camouflaging, perceived stigma, coping strategies for stigma, mental well-being, generalized anxiety, social anxiety, and depression. We used hierarchical multiple regression analyses to investigate the relationships between camouflaging and stigma and coping strategies for stigma. Mediation analyses were also employed to examine whether camouflaging mediated the relationships between stigma and autistic people’s mental health. Results: Replicating previous work, we found that higher camouflaging was associated with higher perceived stigma. Both coping strategies of hiding/denying and valuing/embracing stigmatized characteristics were positively related to camouflaging. Camouflaging mediated the association of stigma with depression, generalized anxiety, and social anxiety (but not well-being). Conclusion: Our findings support the hypothesis that camouflaging is closely related to autism-related stigma and can influence the impact of stigma on mental health. More work around social outreach and addressing autism-related stigma would be beneficial to reduce the negative role of camouflaging.Output Status: Forthcomin