Compound Heterozygous Mutations in SLC30A2/ZnT2 Results in Low Milk Zinc Concentrations: A Novel Mechanism for Zinc Deficiency in a Breast-Fed Infant.

Zinc concentrations in breast milk are considerably higher than those of the maternal serum, to meet the infant's requirements for normal growth and development. Thus, effective mechanisms ensuring secretion of large amounts of zinc into the milk operate in mammary epithelial cells during lactation. ZnT2 was recently found to play an essential role in the secretion of zinc into milk. Heterozygous mutations of human ZnT2 (hZnT2), including H54R and G87R, in mothers result in low (>75% reduction) secretion of zinc into the breast milk, and infants fed on the milk develop transient neonatal zinc deficiency. We identified two novel missense mutations in the SLC30A2/ZnT2 gene in a Japanese mother with low milk zinc concentrations (>90% reduction) whose infant developed severe zinc deficiency; a T to C transition (c.454T>C) at exon 4, which substitutes a tryptophan residue with an arginine residue (W152R), and a C to T transition (c.887C>T) at exon 7, which substitutes a serine residue with a leucine residue (S296L). Biochemical characterization using zinc-sensitive DT40 cells indicated that the W152R mutation abolished the abilities to transport zinc and to form a dimer complex, indicating a loss-of-function mutation. The S296L mutation retained both abilities but was extremely destabilized. The two mutations were found on different alleles, indicating that the genotype of the mother with low milk zinc was compound heterozygous. These results show novel compound heterozygous mutations in the SLC30A2/ZnT2 gene causing zinc deficiency in a breast-fed infant

Topkapı Sarayı Müzesinde Türk saatleri

Taha Toros Arşivi, Dosya No: 114-Müzelerİstanbul Kalkınma Ajansı (TR10/14/YEN/0033) İstanbul Development Agency (TR10/14/YEN/0033

Seasonal Changes in the Plant Growth-Inhibitory Effects of Rosemary Leaves on Lettuce Seedlings

Plant biodiversity has been studied to explore allelopathic species for the sustainable management of weeds to reduce the reliance on synthetic herbicides. Rosemary (Rosmarinus officinalis L., syn Salvia rosmarinus Spenn.), was found to have plant growth-inhibitory effects, and carnosic acid was reported as an allelochemical in the plant. In this study, the effects of seasonal variation (2011–2012) on the carnosic acid concentration and phytotoxicity of rosemary leaves from two locations in Tunisia (Fahs and Matmata) were investigated. The carnosic acid concentration in rosemary leaves was determined by HPLC, and lettuce (Lactuca sativa L.) was used as the receptor plant in the phytotoxicity bioassay. The highest carnosic acid concentration was found in rosemary samples collected in June 2011, which also had the highest inhibitory activity. Furthermore, a significant inverse correlation (r = −0.529; p < 0.01) was found between the inhibitory activity on lettuce hypocotyl and the carnosic acid concentration in rosemary leaves. Both temperature and elevation had a significant positive correlation with carnosic acid concentration, while rainfall showed a negative correlation. The results showed that the inhibitory effects of rosemary leaf samples collected in summer was highest due to their high carnosic acid concentration. The phytotoxicity of rosemary needs to be studied over time to determine if it varies by season under field conditions.Peer Reviewe

Formation of an Ultracarbonaceous Antarctic Micrometeorite through Minimum Aqueous Alteration in a Small Porous Icy Body

A comprehensive study of the organic chemistry and mineralogy of an ultracarbonaceous micrometeorite (UCAMM D05IB80) collected from near the Dome Fuji Station, Antarctica, was carried out to understand the genetic relationship among organic materials, silicates, and water. The micrometeorite is composed of a dense aggregate of ∼5 µm-sized hollow ellipsoidal organic material containing submicrometer-sized phases such as glass with embedded metal and sulfides (GEMS) and mineral grains. There is a wide area of organic material (∼15 × 15 μm) in its interior. Low-Ca pyroxene is much more abundant than olivine and shows various Mg/(Mg + Fe) ratios ranging from ∼1.0 to 0.78, which is common to previous works on UCAMMs. By contrast, GEMS grains in this UCAMM have unusual chemical compositions. They are depleted in both Mg and S, which suggests that these elements were leached out from the GEMS grains during very weak aqueous alteration, without the formation of phyllosilicates. The organic materials have two textures—smooth and globular with an irregular outline—and these are composed of imine, nitrile and/or aromatic nitrogen heterocycles, and amide. The ratio of nitrogen to carbon (N/C) in the smooth region of the organics is ∼0.15, which is five times higher than that of insoluble organic macromolecules in types 1 and 2 carbonaceous chondritic meteorites. In addition, the UCAMM organic materials are soluble in epoxy and are thus hydrophilic; this polar nature indicates that they are very primitive. The surface of the material is coated with an inorganic layer, a few nanometers thick, that consists of C, O, Si, S, and Fe. Sulfur is also contained in the interior, implying the presence of organosulfur moieties. There are no isotopic anomalies of D, 13C, or 15N in the organic material. Interstellar photochemistry alone would not be sufficient to explain the N/C ratio of the UCAMM organics; therefore, we suggest that a very small amount of fluid on a comet must have been necessary for the formation of the UCAMM. The GEMS grains depleted in Mg and S in the UCAMM prove a very weak degree of aqueous alteration; weaker than that of carbonaceous chondrites. Short-duration weak alteration probably caused by planetesimal shock locally melted cometary ice grains and released water that dissolved the organics; the fluid would likely have not mobilized because of the very low thermal conductivity of the porous icy body. This event allowed the formation of the large organic puddle of the UCAMM, as well as organic matter sulfurization, formation of thin membrane-like layers of minerals, and deformation of organic nanoglobules.アクセプト後にタイトル・アブストラクト等変更あり、著者最終稿は変更前のタイトル"Formation of an Ultracarbonaceous Antarctic Micrometeorite through Minimum Aqueous Alteration in a Small Porous Icy Body"This work was supported by a Grant-in-Aid for Scientific Research from the Japanese Ministry of Education, Culture, Sports, Science and Technology (No. 22224010, PI: H. Nagahara). The STXM facility at the beamline 5.3.2.2, ALS, is supported by the Department of Energy, Basic Energy Sciences Program

Organic chemical variation between hydrous and anhydrous Antarctic micrometeorites

第6回極域科学シンポジウム[OA] 南極隕石11月17日（火）　国立国語研究所 2階 講

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families

カンゴ キソ キョウイク ソツギョウ ゴ ノ カンゴ キョウイク ヒョウカ ト コウド カンゴ センモン ショク イシキ ニ カンスル チョウサ

本研究は、看護基礎教育卒業後の看護教育評価によりと学部教育の課題を明確にすること、大学院教育をはじめとする高度看護専門職教育のニーズ把握することを目的に調査を行った。調査対象者は本学科の卒業生および30歳以下の臨床看護師で、調査内容は最終学歴、看護実践力の自己評価、キャリアアップの希望とその条件等である。調査方法は無記名自記式質問紙を郵送にて配布・回収した。看護基礎教育で学んだ看護技術が役立ったと回答した割合は、専門および短大教育群と大学卒群を比較して専門・短大卒軍が有意に高かった(p<0.05)。高度看護専門職志向は両群ともに高く、中でも修士課程への進学希望は大学卒群に多い傾向にあった。免許・資格取得希望は学歴を高めるより臨床に直結した認定看護等の資格取得希望が多く、就業年数で経済的サポートを希望する割合が多い傾向にあった。The purpose of the present research was to conduct an evaluation of the basic nursing education for nurses post-graduation to clarify educational issues and to determine their inclination to advance their nursing skills. The subjects included were either graduates of the authors\u27 university or the nurses who were under 30 years of age and working in clinical settings. The questionnaire included the graduates\u27 educational background, opinions of their own nursing practice, professional advancement, prerequisites for professional advancement, etc. The questionnaires were sent by mail to the graduates, and the forms were returned anonymously.The returned questionnaires were evaluated, and the results showed that the basic techniques they obtained as students were considered useful. But, when compared with a group of vocational school graduates and junior college graduates, the university graduates showed only a small significant difference (p<0.05). The tendency to want to advance their profession was high in both groups, and the number of university graduates who hoped to go on for a master\u27s degree was significantly large. More than obtaining advanced licenses and qualifications. many respondents preferred to gain cerfications directly related to their clinical activities. This result was more significant in nurses who worked more than four years than nurses who had worked less than four years (p<0.05). Many of the respondents also stated that financial support is necessary to achieve professional advancement

Non-HDL-C and CVD

Aims: We aimed to investigate the association between non-high-density lipoprotein cholesterol (non-HDL-C) levels and the risk of cardiovascular disease (CVD) and its subtypes. Methods: In this contemporary cohort study, we analyzed the data of 63,814 Japanese employees aged ≥ 30 years, without known CVD in 2012 and who were followed up for up to 8 years. The non-HDL-C level was divided into 5 groups: ＜110, 110-129, 130-149, 150-169, and ≥ 170 mg/dL. The Cox proportional hazards model was used to calculate the hazard ratios (HRs) and the corresponding 95% confidence intervals (CIs) for CVD and its subtypes associated with each non-HDL-C group, considering 130-149 mg/dL as the reference group. Results: During the study period, 271 participants developed CVD, including 78 myocardial infarctions and 193 strokes (102 ischemic strokes, 89 hemorrhagic strokes, and 2 unknowns). A U-shaped association between non-HDL-C and stroke was observed. In the analysis of stroke subtypes, the multivariable-adjusted HR (95% CI) for hemorrhagic stroke was 2.61 (1.19–5.72), 2.02 (0.95–4.29), 2.10 (1.01–4.36), and 1.98 (0.96-4.08), while that for ischemic stroke was 1.54 (0.77-3.07), 0.91 (0.46-1.80), 0.73 (0.38-1.41), and 1.50 (0.87-2.56) in the ＜110, 110-129, 150-169, and ≥ 170 mg/dL groups, respectively. Individuals with elevated non-HDL-C levels had a higher risk of myocardial infarction. Conclusions: High non-HDL-C levels were associated with an increased risk of myocardial infarction. Moreover, high and low non-HDL-C levels were associated with a high risk of stroke and its subtypes among Japanese workers

Optimal waist circumference cut-off points and ability of different metabolic syndrome criteria for predicting diabetes in Japanese men and women: Japan Epidemiology Collaboration on Occupational Health Study

Abstract Background We sought to establish the optimal waist circumference (WC) cut-off point for predicting diabetes mellitus (DM) and to compare the predictive ability of the metabolic syndrome (MetS) criteria of the Joint Interim Statement (JIS) and the Japanese Committee of the Criteria for MetS (JCCMS) for DM in Japanese. Methods Participants of the Japan Epidemiology Collaboration on Occupational Health Study, who were aged 20–69 years and free of DM at baseline (n = 54,980), were followed-up for a maximum of 6 years. Time-dependent receiver operating characteristic analysis was used to determine the optimal cut-off points of WC for predicting DM. Time-dependent sensitivity, specificity, and positive and negative predictive values for the prediction of DM were compared between the JIS and JCCMS MetS criteria. Results During 234,926 person-years of follow-up, 3180 individuals developed DM. Receiver operating characteristic analysis suggested that the most suitable cut-off point of WC for predicting incident DM was 85 cm for men and 80 cm for women. MetS was associated with 3–4 times increased hazard for developing DM in men and 7–9 times in women. Of the MetS criteria tested, the JIS criteria using our proposed WC cut-off points (85 cm for men and 80 cm for women) had the highest sensitivity (54.5 % for men and 43.5 % for women) for predicting DM. The sensitivity and specificity of the JCCMS MetS criteria were ~37.7 and 98.9 %, respectively. Conclusion Data from the present large cohort of workers suggest that WC cut-offs of 85 cm for men and 80 cm for women may be appropriate for predicting DM for Japanese. The JIS criteria can detect more people who later develop DM than does the JCCMS criteria