Masanobu Fujimoto

Use, efficacy, and safety of desmopressin for congenital nephrogenic diabetes insipidus in children: a nationwide survey

Kento Ikegawa, Masanobu Fujimoto, Kohei Aoyama, Hirofumi Nakayama et autres

Congenital nephrogenic diabetes insipidus (CNDI) is characterized by resistance of the distal nephrons and collecting ducts to arginine vasopressin (AVP). High doses of 1-deamino-8-D-arginine vasopressin (DDAVP), a V2-receptor-selective agonist, are effective in some cases. The present study aimed to demonstrate the use, …

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Detection of high-risk severe aortic stenosis using coronary flow pattern

Wataru Suzuki, Masanobu Fujimoto, Kanae Mukai, Hirofumi Ohashi et autres

Abstract Background Symptomatic severe aortic stenosis (AS) has a poor prognosis and requires therapeutic intervention. However, identifying symptoms in elderly patients can be challenging. Therefore, objective indicators are needed to detect high-risk AS. Previous studies have shown that left ventricular global longitudinal …

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Multidisciplinary Management of Plexiform Neurofibromas in Pediatric Patients With Neurofibromatosis 1: Insights From Advisory Board‐Guided Clinical Experience in Japan

Yuko Ehara, Tohru Okanishi, Yoshiko Suyama, Kensaku Yamaga et autres

Neurofibromatosis 1 (NF1) is a multisystem genetic disorder characterized by cutaneous, neurological, and skeletal manifestations. Plexiform neurofibroma (PN) is a benign peripheral nerve sheath tumor, often leading to considerable morbidity due to its progressive nature. Selumetinib, a MEK inhibitor, represents a novel …

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National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan

Yuko Okawa, Muneaki Matsuo, Rika Kosaki, Hidefumi Tonoki et autres

BACKGROUND AND AIM: Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (PL) are rare genetic disorders characterized by accelerated aging and early onset cardiovascular complications. Despite recent advances in the genetic diagnosis of HGPS and PL and the advent of lonafarnib treatment, the …

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TCTAP C-199 AI-Reconstructed Ultra-High-Resolution CCTA and Intravascular Lithotripsy-Assisted PCI for Severe Concentric and Eccentric Calcified Plaques

Hirofumi Ohashi, Koshiro Sakai, Masanobu Fujimoto, Akihiro Suzuki et autres

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Diastolic Mitral Regurgitation Caused by Acute Myocardial Infarction Complicated With Severe Heart Failure

Wataru Suzuki, Kentaro Mukai, Hirofumi Ohashi, Yoshiyuki Ogawa et autres

Diastolic mitral regurgitation (MR) is a rare and often-overlooked form of functional MR. Key factors in the development of diastolic MR include incomplete closure of the mitral valve, reversal of left atrioventricular pressure gradient during diastole, and elevated left ventricular diastolic pressure. …

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Impact of systolic coronary flow reversal in patients with aortic stenosis: assessment with transthoracic echocardiography

Wataru Suzuki, Masanobu Fujimoto, Kanae Mukai, Hirofumi Ohashi et autres

Abstract Background In patients with aortic stenosis (AS), increased systolic wall stress due to increased afterload reduces systolic coronary flow, often leading to systolic coronary flow reversal (SFR) in epicardial coronary arteries. Purpose We used transthoracic echocardiography (TTE) to evaluate severity of …

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Coronary perforation identified by optical coherence tomography

Hirohiko Ando, Masanobu Fujimoto, Shinichiro Sakurai, Tetsuya Amano

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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome

Avinaash Vickram Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra et autres

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. Patients with suspected SRS negative for 11p15LOM/mUPD7 underwent whole-exome and/or …

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Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia

Shintaro Senoo, Masanobu Fujimoto, Yukiko Yamaguchi, Mari Osaki et autres

Burosumab, a fully human monoclonal antibody against fibroblast growth factor 23, is mainly administered to patients with severe X-linked hypophosphatemia (XLH). However, there have been few reports on its use in relatively mild cases. In this report, we administered burosumab to two …

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Thyroid hormone may predict treatment failure in Kawasaki disease

Yuichiro Hashida, Yoichi Mino, Keisuke Okuno, Hitoshi Uemasu et autres

BACKGROUND: In systemic inflammatory conditions, inflammatory cytokines can cause low thyroid hormone levels. There are no reports discussing the relation between thyroid hormone levels and response to treatment for Kawasaki disease. METHODS: We investigated 67 patients who underwent treatment in the acute …

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Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration

Yuki Kawashima, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto et autres

Short stature with IGF-1 receptor (IGF1R) gene alteration is known as small-for-gestational-age (SGA) short stature with elevated serum IGF1 levels. Its prevalence and clinical characteristics remain unclear. No adapted treatment is available for short stature related to IGF1R gene alteration in Japan, …

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