Takuma Ishii

WCN26-5370 Prognostic differences between pre-existing atrial fibrillation in chronic kidney disease and new-onset atrial fibrillation at hemodialysis initiation

Tomohisa Tsuyuki, Mineaki Kitamura, Haruka Fukuda, Takuma Ishii et autres

Introduction: Central venous catheterization carries the second highest risk of iatrogenic pneumothorax.Subclavian catheterization carries a higher risk than internal jugular catheterization.Pneumothorax is one of the most common CVC insertion complications, reportedly representing up to 30% of all mechanical adverse events of CVC …

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Pre-dialysis medical social worker support and survival in patients with kidney failure: impact on unplanned dialysis, hospitalization, and prognosis

Mineaki Kitamura, Hiroshi Yamashita, Haruka Fukuda, Takuma Ishii et autres

The role of medical social workers (MSWs) in managing patients with end-stage kidney disease (ESKD) undergoing hemodialysis remains unknown. This study evaluated the prognostic impact of pre-dialysis MSW support in patients undergoing renal replacement therapy. This retrospective analysis included 257 patients who …

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Prognostic differences between pre-existing atrial fibrillation in chronic kidney disease and new-onset atrial fibrillation at hemodialysis initiation: a retrospective single-center cohort study

Tomohisa Tsuyuki, Mineaki Kitamura, Haruka Fukuda, Takuma Ishii et autres

Atrial fibrillation (AF) can develop in patients with chronic kidney disease. However, the impact of new-onset AF in patients who are initiated on hemodialysis remains unclear. We categorized 254 patients who were started on hemodialysis into three groups: those with pre-existing AF, …

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Comparison of Three HIF‒PH Inhibitors for ESA‒resistant Renal Anemia and Exploration of Treatment Response‒predicting Factors

Shuichi Sato, Masatoshi Hayashida, Toshiyuki Yano, Tomoyuki Takaki et autres

腎性貧血の治療は従来，エリスロポエチン製剤（ESA）が中心だったが，慢性炎症や鉄利用障害を背景にESA抵抗性を示す患者が一定数存在する．近年登場したHIF‒PH阻害薬は，内因性EPO産生と鉄代謝改善を促す新たな選択肢として注目されるが，長期的な有効性や使い分けは十分に検討されていない．本研究では，ESA抵抗性腎性貧血患者を対象に，ロキサデュスタット（Rox），ダプロデュスタット（Dap），エナロデュスタット（Ena）の3剤を100週間追跡し，Hbコントロール，投与量，安全性を比較した．さらに機械学習により治療反応性に影響する因子を探索した結果，治療開始前の鉄代謝，造血状態，銅代謝が重要であることが示唆された．これらを事前に把握することで，反応性の低い症例の予測と治療効果の最大化が期待される．

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A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno et autres

BACKGROUND: According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants are reported …

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Additional file 1: Table S1. of A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno et autres

The probandâ s (II-2 in Fig. 2) results of genetic screening of LQT causative genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, SCN4B, KCNJ5). Entire coding exons, including the intronic boundaries of the genes were analyzed. (XLSX 10 kb)

Torque enhancement in a single-drive bearingless motor with V-shaped winding

Takuma Ishii, Hiroya Sugimoto, Akira Chibá

This paper presents torque enhancement in a single-drive bearingless motor. The bearingless motor has a novel combined winding of a V-shape to generate rotational torque and active axial force. In previous machine, only the Lorentz force torque is generated. On the other …

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Torque Enhancement in a Single-Drive Bearingless Motor with V-Shaped Winding

拓馬 石井, Takuma Ishii, 紘也 杉元, Hiroya Sugimoto et autres

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

Katsuyoshi Horibata, Sayaka Kono, Chie Ishigami, Xue chao Zhang et autres

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Clinical correlations of mutations affecting six components of the SWI / SNF complex: Detailed description of 21 patients and a review of the literature

Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki et autres

Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. We detail here the genotype-phenotype correlations for 85 previously published and one …

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Tomoki Kosho et autres

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A patient with early onset Huntington disease and severe cerebellar atrophy

Satoru Sakazume, Satoshi Yoshinari, Eiji Oguma, Emi Utsuno et autres

We report on a girl with early onset Huntington disease (HD). Her initial symptoms at 2 years of age included oral motor dysfunction and gait disturbance. Magnetic resonance imaging of the head revealed severe atrophy of both the vermis and the cerebellar …

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