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        Individualized Treatment for Patients With Familial Hypercholesterolemia

        Tada Hayato,Takamura Masayuki,Kawashiri Masa-aki 한국지질동맥경화학회 2022 지질·동맥경화학회지 Vol.11 No.1

        Familial hypercholesterolemia (FH) is one of the most common and, therefore, important inherited disorders in preventive cardiology. This disease is mainly caused by a single pathogenic mutation in the low-density lipoprotein receptor or its associated genes. Moreover, it is correlated with a high risk of cardiovascular disease. However, the phenotype severity even in this monogenic disease significantly varies. Thus, the current study aimed to describe FH and its importance and the factors (inherited and acquired) contributing to differences in phenotype severity. Different lipid-modification therapies according to these factors can lead to individualized treatments, which are also essential in the general populations.

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        Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia

        Nobuko Kojima,Tada Hayato,Akihiro Nomura,Soichiro Usui,Kenji Sakata,Kenshi Hayashi,Atsushi Nohara,Akihiro Inazu,Masa-aki Kawashiri,Masayuki Takamura 한국지질동맥경화학회 2024 지질·동맥경화학회지 Vol.13 No.1

        ObjectiveSitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 (ABCG5) or ATP-binding cassette sub-family G member 8 (ABCG8). There are only few data on the pathogenicity of ABCG5 and ABCG8. This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia. MethodsThis study enrolled 377 consecutive Japanese patients with hyper-low-density lipoprotein cholesterolemia (mean age: 46.5±19.8 years, with 192 men) who have targeted-sequenced data on ABCG5 or ABCG8 (among 21 Mendelian lipid genes for any dyslipidemias) and serum sitosterol levels at Kanazawa University Hospital from 2016 to 2021. Serum sitosterol levels were divided by 0.79 in patients treated with ezetimibe, accounting for the average reduction with this drug. ABCG5 or ABCG8 variants were defined as putative pathogenic if associated with serum sitosterol levels ≥5 µg/mL or homozygous if associated with serum sitosterol levels ≥10 µg/mL. ResultsTwenty-three ABCG5 or ABCG8 variants (16 missense, 2 nonsense, 2 frameshift, 2 deletion, and 1 splice mutation) were identified. Based on our definition, 11 putative pathogenic variants (median sitosterol level: 10.1 [6.5–17.1] µg/mL) were found in 36 individuals and 12 benign variants (median sitosterol: 3.5 [2.5–4.1] µg/mL) in 14 individuals. ConclusionThe scheme proposed for assessing the pathogenicity of genetic variations (ABCG5 and ABCG8) is useful. Using this scheme, 11 putative pathogenic, and 12 benign variants in ABCG5 or ABCG were classified.

      • HUMAN INTERFACE TO MULTIMEDIA DATABASE SYSTEMS

        ( Kazuhide Higuchi ),( Masahiro Tada ),( Akihiro Ogino ),( Ayumi Sato ),( Emi Yano ),( Hayato Kobayashi ),( Toshikazu Kato ) 한국감성과학회 2002 춘계학술대회 Vol.2002 No.-

        To transmit users`` intentions that vary with each person, intuitive and bi-directional interactions between users and a computer are necessary. We considered these interactions by dividing them into two spaces, physical space and informational space. Informational space supports human thinking process by arranging and visualizing much information. Physical space reproduces the real world where various restrictions exist to virtual space. From the viewpoint of three aspects - contents model, kansei model and context model - we defmed the style of the interaction between user and multimedia database. In this paper, for the purpose of examining the way to realize the interaction based on these models, we developed interior design coordination support system and garden coordination system, and then evaluated them.

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