Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome

AIMS: More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated. The remaining two-thirds of patients harbour missense variants, and past studies uncovered that most of these variants cause trafficking deficiency, resulting in different functional changes: either HI or dominant-negative (DN) effects. In this study, we examined the impact of altered molecular mechanisms on clinical outcomes in LQT2 patients. METHODS AND RESULTS: We included 429 LQT2 patients (234 probands) carrying a rare KCNH2 variant from our patient cohort undergoing genetic testing. Non-missense variants showed shorter corrected QT (QTc) and less arrhythmic events (AEs) than missense variants. We found that 40% of missense variants in this study were previously reported as HI or DN. Non-missense and HI-groups had similar phenotypes, while both exhibited shorter QTc and less AEs than the DN-group. Based on previous work, we predicted the functional change of the unreported variants-whether they cause HI or DN via altered functional domains-and stratified them as predicted HI (pHI)- or pDN-group. The pHI-group including non-missense variants exhibited milder phenotypes compared to the pDN-group. Multivariable Cox model showed that the functional change was an independent risk of AEs (P = 0.005). CONCLUSION: Stratification based on molecular biological studies enables us to better predict clinical outcomes in the patients with LQT2

Speaking Practices Designed to Improve Presentation Skills and Their Effect on High School Students’ Oral Performance

この研究は，口頭発表活動に必要な技術を身につける実践を通じて，発話力の伸びを検証することを目的とした実証的研究である。高校１年生の実験クラスを対象に，物語の紹介を目的とする，パターン化された構成で行うプレゼンテーション形式の活動を一定期間行い，ポストテストにおける発話を統制クラスと比較した結果，流暢さの面で向上が見られた。実験クラスの経験した発表活動では，パターン化された情報構造で発話内容を考えるため，活動時の発話過程において，概念化の段階で受ける認知的負荷が軽減され，言語化に向ける認知資源を増やすことができ，流暢さが高まったと考えられる。The present study takes an empirical approach to assessing the effect of speaking practice designed to improve presentation skills. First-year high-school students repeatedly engaged in book-talk activities for a certain period of time. During the activities, they were given a speaking format to facilitate their performance. At the end of the instruction period, students’ speaking fluency was measured, analyzed, and compared with that of a control group. The comparative analysis demonstrates that the students’ fluency improves substantially when they are provided with a speaking format. The result supports the hypothesis that this format helps to lessen the students’ cognitive load at the initial conceptualization stage and instead helps to save cognitive resources for successive stages of speech production, which consequently enhances the students’ speaking performance

Effects of Small-Group Facilitators on Speaking Performance of Junior High School Students

本研究は，中学生のスピーキング活動におけるファシリテーターの働きに注目し，その発話の特徴とそれが学習者の発話にどのように影響するかについて，日本人英語教員，外国人英語話者および学習者がファシリテーター役を担う小集団を設定し，調査結果を量的・質的に分析することにより，今後のスピーキング指導の在り方の方向性を提案することを目的とした。結果として，日本人英語教員，外国人英語話者ともに学習者への発話量の多さはあるものの，ディスカッションで求められる学習者の思考の深まりを促す働きは確認できなかった。しかし，会話分析から，ファシリテーターの発話の量と質のバランスを工夫することにより，学習者から発話を引き出し，思考の深まりを促すきっかけを与えることができる可能性があることは確認できた。今後は，今回の調査において，発話回数が少なかった「学習者に自信を与える発話」や「思考を深める発話」に焦点を当てた調査・分析を課題としたい。The aim of this research is to propose how the instruction on speaking activities can be effective by focusing on the role of a facilitator. In this research, a Japanese teacher, a foreign language speaker and a junior high school student played the role of the facilitator in a group of junior-high students. The facilitators’ utterances produced in the groups were analyzed by both qualitative and quantitative ways. As a result, the majority of the facilitators succeeded in letting the students speak out, but their work wasn’t sufficient enough to deepen the students’ thoughts. However, this research suggests that the facilitators can help students to speak out and deepen their thoughts by using adequate types of facilitation, which encourages the students to speak out and allows them to deepen their thoughts

Norm-Conserving Finite-Difference Beam-Propagation Method for TM Wave Analysis in Step-Index Optical Waveguides

Nonconservation of power is a perplexing problem in the propagating beam analysis of transverse magnetic (TM) waves in a z-variant step-index optical waveguide. To conserve the power in terms of a squared norm, a modified finite-difference (FD) formula is introduced that allows a general position of a core-cladding interface. The use of the modified formula contributes to a reduction in a field profile error caused by a staircase approximation with subsequent conservation of power, particularly for a symmetrical waveguide. To obtain the power conservation even in the analysis of an asymmetrical waveguide, a z-derivative of the refractive index is taken into account. An asymmetrical taper and tilted waveguides placed in parallel are investigated to validate the present technique

An Interesting Case of Type A Wolff-Parkinson-White Syndrome

A case of Wolff-Parkinson-White syndrome who presented with a tachycardia showing an unusual QRS morphology closely resembling that of a ventricular tachycardia was reported. It showed type A or type B conduction of the Wolff-Parkinson-White syndrome in electrocardiogram in different time, but vectorcardiogram showed always type A conduction. After combinated administration of Quinidine and Reserpine, ECG reversed constantly to normal sinus rhythm

Si Substrate Suitable for Radiation-Resistant Space Solar Cells

Irradiating group-III (B, Al, Ga)-doped Czochralski (CZ)-grown Si substrates as well as B-doped magnetic Czochralski (MCZ)-grown and floating-zone (FZ)-grown Si substrates with 10 MeV protons or 1 MeV electrons, we investigate both the reduction in the hole concentration and the conversion of p type to n type using Hall-effect measurements. In all the 10 cm CZ-Si, the density of each acceptor species is reduced by irradiation, and finally the conversion occurs with 10 17 cm À2 fluence of 1 MeV electrons or with 2:5 Â 10 14 cm À2 fluence of 10 MeV protons. In 10 cm MCZ-Si and 10 cm FZ-Si, on the other hand, the conversion does not occur under the same conditions. Moreover, the reduction in the hole concentration for the FZ-Si is much less than the others. From these results, it is elucidated that the conversion as well as the reduction in the hole concentration is strongly dependent on the concentration of oxygen in Si, not on the type of acceptor species in Si. Therefore, the p-type FZ-Si substrate is appropriate for radiation-resistant space solar cells such as n þ /p/p þ Si solar cells and upcoming III-V tandem solar cells on n þ /p Si substrates