Search results for: Hirofumi Ohashi

Items from 1 to 20 out of 76 results

article

Impact of vessel volume on thermodilution measurements in patients with coronary microvascular dysfunction

Koshiro Sakai, Tatyana Storozhenko, Takuya Mizukami, Hirofumi Ohashi, more

Catheterization and Cardiovascular Interventions > 103 > 6 > 885 - 896

Background Two invasive methods are available to estimate microvascular resistance: bolus and continuous thermodilution. Comparative studies have revealed a lack of concordance between measurements of microvascular resistance obtained through these techniques. Aims This study aimed to examine the influence of vessel volume on bolus thermodilution measurements. Methods We prospectively included...

article

RASopathies and spinal deformities for screening of scoliosis

Masayoshi Machida, Brett Rocos, Hirofumi Ohashi, Katsuaki Taira, more

Pediatrics International > 65 > 1 > n/a - n/a

Background The RASopathies (Noonan syndrome [NS] and Costello syndrome [CS]) are rare disorders. Although these have been characterized, precise delineation of the differences in the spinal deformities associated with RASopathy has not been described. This study characterized the spinal deformities found in NS and CS and describes a strategy for the screening of scoliosis. Methods The clinical...

article

Relationship between coronary volume, myocardial mass, and post‐PCI fractional flow reserve

Niya Mileva, Hirofumi Ohashi, Pasquale Paolisso, Jonathon Leipsic, more

Catheterization and Cardiovascular Interventions > 101 > 7 > 1182 - 1192

Background Fractional flow reserve (FFR) measured after percutaneous coronary intervention (PCI) carries prognostic information. Yet, myocardial mass subtended by a stenosis influences FFR. We hypothesized that a smaller coronary lumen volume and a large myocardial mass might be associated with lower post‐PCI FFR. Aim We sought to assess the relationship between vessel volume, myocardial mass,...

article

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek‐Kiper, more

Journal of Bone and Mineral Research > 38 > 5 > 692 - 706

Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine...

article

Adapted whole‐body surveillance for von Hippel–Lindau‐associated tumors in 3p deletion syndrome with VHL deletion: A case report

Kazumi Morisawa, Takeshi Sato, Motoko Shimoyamada, Ryuichi Mizuno, more

Pediatric Blood & Cancer > 69 > 11 > n/a - n/a

article

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia

Toshiyuki Itai, Zheng Wang, Gen Nishimura, Hirofumi Ohashi, more

Clinical Genetics > 102 > 1 > 3 - 11

Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing of the limbs associated with other variable findings, such as narrow thorax and abnormal facies. We searched for the genetic etiology of this disorder. Four individuals diagnosed with kyphomelic dysplasia were enrolled. We performed whole‐exome sequencing and evaluated the pathogenicity of the identified...

article

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, more

Human Mutation > 43 > 7 > 900 - 918

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate‐limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT‐pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome...

article

Back Cover, Volume 43, Issue 7

Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, more

Human Mutation > 43 > 7 > ii - ii

Back Cover: The cover image is based on the Research Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome by Juliana Forte Mazzeu de Araujo et al., https://doi.org/10.1002/humu.24375.

article

TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

Jing‐yi Xue, Zheng Wang, Satoshi Shinagawa, Hirofumi Ohashi, more

Journal of Bone and Mineral Research > 34 > 10 > 1873 - 1879

Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a single case with a splice‐site mutation of TNFRSF11A have been reported, and TNFRSF11A is also a causal gene for osteopetrosis, autosomal recessive 7 (OP‐AR7). Thus, the causal genes...

article

Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26)

Takaharu Inoue, Koichiro Sato, Hirofumi Ohashi, Toshino Motojima, more

Pediatrics International > 61 > 6 > 618 - 620

article

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

Ikumi Umeki, Tetsuya Niihori, Taiki Abe, Shin-ichiro Kanno, more

Human Genetics > 2019 > 138 > 1 > 21-35

RASopathies are a group of developmental disorders caused by mutations in genes that regulate the RAS/MAPK pathway and include Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome and other related disorders. Whole exome sequencing studies recently identified LZTR1, PPP1CB and MRAS as new causative genes in RASopathies. However, information on the phenotypes of LZTR1 mutation-positive...

article

Catathrenia in Pitt–Hopkins syndrome associated with 18q interstitial deletion

Toshino Motojima, Katsunori Fujii, Hirofumi Ohashi, Hirokazu Arakawa

Pediatrics International > 60 > 5 > 479 - 481

article

Progressive subglottic stenosis in a child with Pallister‐Killian syndrome

Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, more

Congenital Anomalies > 58 > 3 > 102 - 104

Pallister‐Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive...

article

Facultative commensalism of a free-burrowing urothoid amphipod with a deep burrow-dwelling callianassid shrimp in intertidal sand

Akio Tamaki, Takumi Kagesawa, Seiji Takeuchi, Hirofumi Ohashi, more

Marine Biology > 2018 > 165 > 2 > 1-15

Species of the free-burrowing amphipod genus, Urothoe, are common on open sandy beaches. On intertidal sandflats, some species are associated with burrows or tubes of large infauna. How this link is formed and persisting under sheltered conditions was examined. On an intertidal sandflat in mid-western Kyushu, Japan, U. carda co-occurred with the deep burrow-dwelling callianassid shrimp, Nihonotrypaea harmandi...

article

Stereo-controlled synthesis of functionalized tetrahydropyridines based on the cyanomethylation of 1,6-dihydropyridines and generation of anti-hepatitis C virus agents

Ryo Watanabe, Haruki Mizoguchi, Hideaki Oikawa, Hirofumi Ohashi, more

Bioorganic & Medicinal Chemistry > 2017 > 25 > 11 > 2851-2855

Densely functionalized tetrahydropyridines were stereoselectively synthesized from 1,6-dihydropyridines. Exploiting a carbonyl group installed at the C3 position of the 1,6-dihydropyridine system, we devised a strategy for cyanomethylation at C2/C6 and subsequent divergent installation of an allyl group at C3/C5 in a highly regio- and stereo-controlled manner. This versatile protocol for programmable...

article

Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine

Masahiro Nakajima, Ikuyo Kou, Hirofumi Ohashi, Shiro Ikegawa

The American Journal of Human Genetics > 2016 > 99 > 1 > 202-207

Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common spinal disorder that results from ectopic ossification of the posterior longitudinal ligament and causes intractable myelopathy and radiculopathy. In a previous genome-wide association study (GWAS), we found six loci associated with OPLL; however, susceptibility genes in these loci have not been identified yet. Here,...

article

Assessment of amount and concentration of tritium in HTTR-IS system based on tritium behavior during high-temperature continuous operation of HTTR

Arnoldus Lambertus Dipu, Hirofumi Ohashi, Shimpei Hamamoto, Hiroyuki Sato, more

Annals of Nuclear Energy > 2016 > 88 > C > 126-134

The tritium concentration in the high temperature engineering test reactor (HTTR) was measured during high-temperature (950°C) continuous operation for 50days, which is the first measurement of tritium concentration in the secondary helium circuit during operation using the intermediate heat exchanger, to develop an assessment base for evaluating tritium behavior in the high temperature gas-cooled...

article

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, more

Human Genetics > 2016 > 135 > 2 > 209-222

RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a RASopathy characterized by a distinctive facial appearance, musculoskeletal abnormalities, and congenital heart defects. We have recently identified mutations in RIT1 in patients with NS. To delineate the clinical manifestations in RIT1 mutation-positive...

article

Safety design consideration for HTGR coupling with hydrogen production plant

Hiroyuki Sato, Hirofumi Ohashi, Shigeaki Nakagawa, Yukio Tachibana, more

Progress in Nuclear Energy > 2015 > 82 > C > 46-52

Safety requirements and design considerations are examined for a nuclear hydrogen production system that consists of High Temperature Gas-cooled Reactor (HTGR) and a hydrogen production plant by thermochemical water splitting iodine–sulfur process (IS process). Requirements in order to construct hydrogen production plants under conventional chemical plant regulation are identified in order to take...

article

Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan

Mikiko Kaneko, Hirofumi Ohashi, Tomoko Takamura, Hiroshi Kawame

Journal of Genetic Counseling > 2015 > 24 > 6 > 922-930

Undergoing chromosome analysis and receiving the results may have various psychosocial effects. To identify the impact on balanced translocation carriers identified through affected offspring, we conducted semi-structured interviews with eleven parents at Saitama Children’s Medical Center. The results of the interviews were analyzed qualitatively by the KJ (Kawakita Jiro) method. Categories and subcategories...

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INFONA - science communication portal

Search results for: Hirofumi Ohashi

Impact of vessel volume on thermodilution measurements in patients with coronary microvascular dysfunction

RASopathies and spinal deformities for screening of scoliosis

Relationship between coronary volume, myocardial mass, and post‐PCI fractional flow reserve

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

Adapted whole‐body surveillance for von Hippel–Lindau‐associated tumors in 3p deletion syndrome with VHL deletion: A case report

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Back Cover, Volume 43, Issue 7

TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26)

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

Catathrenia in Pitt–Hopkins syndrome associated with 18q interstitial deletion

Progressive subglottic stenosis in a child with Pallister‐Killian syndrome

Facultative commensalism of a free-burrowing urothoid amphipod with a deep burrow-dwelling callianassid shrimp in intertidal sand

Stereo-controlled synthesis of functionalized tetrahydropyridines based on the cyanomethylation of 1,6-dihydropyridines and generation of anti-hepatitis C virus agents

Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine

Assessment of amount and concentration of tritium in HTTR-IS system based on tritium behavior during high-temperature continuous operation of HTTR

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Safety design consideration for HTGR coupling with hydrogen production plant

Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan

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