Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although 123I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS) gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis

Phytophthora capsici Leonian 菌の被のう胞子の発芽過程における核現象(農学部門)

本報告はPhytophthora capsiciの被のう胞子, その発芽過程および小遊走子のう形成に至る間の現象, とくに核現象について研究を行なったものである。被のう胞子の発芽は20°∿28℃で良好であり, その発芽管の伸長は24℃が最適である。被のう胞子の発芽に際し, 原形質は発芽管ないし小遊走子のう内へ流動移行するが, 栄養を補う以前には原形質量の増加は認められない。遊走子の核は1つである。しかし被のう胞子が発芽過程に移る際に, 被のう胞子内で核分裂がはじまるものと, 発芽管の頸部で核分裂がおこるものとが認められるが, 発芽管の伸長とともに引続き発芽管内で核分裂が行なわれる。発芽管内の核分裂は32°, 24°, 20℃の順に早く行なわれるが, いずれの温度でも18時間後には平均8核になる。小遊走子のうは比較的高温においてよく形成し, その形成初期から成熟期前にかけて核数は増加し, 約3∿4個程度に達するが, 成熟期に達してのちは核数が減少し, ついに1核になる。この1核になった時期は小遊走子のうの発芽に移る時期とよく一致する。The germination of cystospore and the formation of miniature sporangium of Phytophthora capsici Leonian have been studied with special emphasis on the nuclear phenomena in those processes. The cystospore germinated in the temperature range of 20°∿25℃, but the germ tube elongation was best demonstrated at 24℃. On cystospore germination cytoplasmic contents were translocated to the germ tube and then to the miniature sporangium formed on the tip of the germ tube or its branch. No increment in the cytoplasmic volume was observed if nutrient was deprived of the germination medium. Zoospore and encysted zoospore have one nucleus. The nuclear division was observed to be initiated either in the cystospore or in the constricted part of the germ tube. In either case divisions were continued in the germ tube as it elongated. The time of division cycle seemed to be dependent on temperature. It was shortest at 32℃ followed by 24℃ and 20℃ in the order. The number of nuclei, however, reached to 8 in average after 18 hrs incubation at any temperature tested. Relatively higher temperature seemes to be favorable for the formation of miniature sporangia. Number of nuclei in the miniature sporangia increased to 3 or 4 in the early stage of their formation, but it decreased as the sporangia grew to the maturity, finally becomming to one. Judging from the time sequence, germination of miniature sporangia seemes to be initiated as soon as number of nucleus decreased to one

A flexible representation of omic knowledge for thorough analysis of microarray data

BACKGROUND: In order to understand microarray data reasonably in the context of other existing biological knowledge, it is necessary to conduct a thorough examination of the data utilizing every aspect of available omic knowledge libraries. So far, a number of bioinformatics tools have been developed. However, each of them is restricted to deal with one type of omic knowledge, e.g., pathways, interactions or gene ontology. Now that the varieties of omic knowledge are expanding, analysis tools need a way to deal with any type of omic knowledge. Hence, we have designed the Omic Space Markup Language (OSML) that can represent a wide range of omic knowledge, and also, we have developed a tool named GSCope3, which can statistically analyze microarray data in comparison with the OSML-formatted omic knowledge data. RESULTS: In order to test the applicability of OSML to represent a variety of omic knowledge specifically useful for analysis of Arabidopsis thaliana microarray data, we have constructed a Biological Knowledge Library (BiKLi) by converting eight different types of omic knowledge into OSML-formatted datasets. We applied GSCope3 and BiKLi to previously reported A. thaliana microarray data, so as to extract any additional insights from the data. As a result, we have discovered a new insight that lignin formation resists drought stress and activates transcription of many water channel genes to oppose drought stress; and most of the 20S proteasome subunit genes show similar expression profiles under drought stress. In addition to this novel discovery, similar findings previously reported were also quickly confirmed using GSCope3 and BiKLi. CONCLUSION: GSCope3 can statistically analyze microarray data in the context of any OSML-represented omic knowledge. OSML is not restricted to a specific data type structure, but it can represent a wide range of omic knowledge. It allows us to convert new types of omic knowledge into datasets that can be used for microarray data analysis with GSCope3. In addition to BiKLi, by collecting various types of omic knowledge as OSML libraries, it becomes possible for us to conduct detailed thorough analysis from various biological viewpoints. GSCope3 and BiKLi are available for academic users at our web site

The effects of perioperative oral management on perioperative serum albumin levels in patients treated surgically under general anesthesia : A multicenter retrospective analysis in Japan

The purpose of the present study was to investigate the efficacy of perioperative oral managements (POMs) on perioperative nutritional conditions in patients undergoing surgery with general anesthesia. Medical records were retrospectively reviewed and the effects of POMs were investigated based on a large number of cases using a multicenter analysis. The profile of serum albumin levels was assessed and compared between patients with and without POMs using the multivariate analysis. Seventeen Eleven thousand and one hundred sixty patients (4,873 males and 6,287 females) were reviewed. Of these, 2710 patients (24.3%) had undergone POMs. The results of a multivariate analysis revealed the significant positive effect of POMs on perioperative serum albumin level (change between at admission and discharge, (Estimate: 0.022, standard error: 0.012, P < .0001). Patient gender, age, surgical site, performance status, the American Society of Anesthesiologists (ASA) physical status classification, operation time, amount of blood loss, and serum albumin level at admission were also significant predictors. Adjusted multivariate analysis of the effects of POMs on perioperative change of serum albumin level in all subjects reveled the significance of POMs intervention (estimate: 0.022, standard error: 0.012, P < .0001). These results suggest that POMs exerts significant positive effects on perioperative serum albumin levels in patients underwent surgery under general anesthesia

Superhump Evolution in the Ultrashort Period Dwarf Nova 1RXS J232953.9+062814

Abstract We report on the evolution of superhumps and late superhumps in an ultrashort period dwarf nova, 1RXS J232953.9$+$062814, during the superoutburst in 2001 November. Ordinary superhumps were observed throughout a plateau phase, a rapid fading phase, and a rebrightening phase. During the plateau phase, the superhump period increased with time at a large rate of $P_\mathrm{dot} = 1.19 \pm 0.24 \times 10^{-4}$. In conjunction with the rebrightening phenomenon, these characteristics indicate that an accretion disk expanded further outward from the $3:1$ resonance radius, which caused a large amount of left over matter at the outer disk, even after the superoutburst. In the post-outburst phase, we detected late superhumps superimposed on dominant double-peak modulations. Late superhumps were observed at least for 10 d without a significant period change. We detected the first normal outburst of this object on 2001 December 26. The interval between the superoutburst and this normal one is 53 d. This short recurrence time supports a high mass-transfer rate in this system. Concerning the evolutionary status of 1RXS J232953.9$+$062814, we propose that it is a progenitor of AM CVn stars on the evolutionary course of the cataclysmic variable channel in which systems have a secondary star with a hydrogen-exhausted core

Survey of Period Variations of Superhumps in SU UMa-Type Dwarf Novae. VIII: The Eighth Year (2015-2016)

Continuing the project described by Kato et al. (2009, arXiv:0905.1757), we collected times of superhump maxima for 128 SU UMa-type dwarf novae observed mainly during the 2015-2016 season and characterized these objects. The data have improved the distribution of orbital periods, the relation between the orbital period and the variation of superhumps, the relation between period variations and the rebrightening type in WZ Sge-type objects. Coupled with new measurements of mass ratios using growing stages of superhumps, we now have a clearer and statistically greatly improved evolutionary path near the terminal stage of evolution of cataclysmic variables. Three objects (V452 Cas, KK Tel, ASASSN-15cl) appear to have slowly growing superhumps, which is proposed to reflect the slow growth of the 3:1 resonance near the stability border. ASASSN-15sl, ASASSN-15ux, SDSS J074859.55+312512.6 and CRTS J200331.3-284941 are newly identified eclipsing SU UMa-type (or WZ Sge-type) dwarf novae. ASASSN-15cy has a short (~0.050 d) superhump period and appears to belong to EI Psc-type objects with compact secondaries having an evolved core. ASASSN-15gn, ASASSN-15hn, ASASSN-15kh and ASASSN-16bu are candidate period bouncers with superhump periods longer than 0.06 d. We have newly obtained superhump periods for 79 objects and 13 orbital periods, including periods from early superhumps. In order that the future observations will be more astrophysically beneficial and rewarding to observers, we propose guidelines how to organize observations of various superoutbursts.Comment: 123 pages, 162 figures, 119 tables, accepted for publication in PASJ (including supplementary information