Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia
CONCLUSION: Case 1 is a new ABCA1 mutation with complex pathogenicity, namely, a W484*/S1343I compound heterozygote with marked hypo-HDL cholesterolemia. Analyses of the compound heterozygous mutations indicated that decreases in ABCA1 protein levels and cholesterol efflux activity caused by the novel S1343I mutation combined with loss of W484* protein activity could lead to marked hypo-HDL cholesterolemia. Galactocerebrosidase dysfunction could also be a potential confounding factor for ABCA1 protein function.PMID:38538338 | DOI:10.5551/jat.64579 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Yasuhisa Furuta Yoshinori Osaki Yoshimi Nakagawa Song-Iee Han Masaya Araki Akito Shikama Nami Ohuchi Daichi Yamazaki Erika Matsuda Seitaro Nohara Yuhei Mizunoe Kenta Kainoh Yasuhito Suehara Hiroshi Ohno Yoshinori Takeuchi Takafumi Miyamoto Yuki Murayama Y Source Type: research

Transitional Medicine of Intractable Primary Dyslipidemias in Japan
J Atheroscler Thromb. 2024 Mar 26. doi: 10.5551/jat.RV22016. Online ahead of print.ABSTRACTTransitional medicine refers to the seamless continuity of medical care for patients with childhood-onset diseases as they grow into adulthood. The transition of care must be seamless in medical treatment as the patients grow and in other medical aids such as subsidies for medical expenses in the health care system. Inappropriate transitional care, either medical or social, directly causes poorer prognosis for many early-onset diseases, including primary dyslipidemia caused by genetic abnormalities. Many primary dyslipidemias are des...
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Masatsune Ogura Sachiko Okazaki Hiroaki Okazaki Hayato Tada Kazushige Dobashi Kimitoshi Nakamura Keiji Matsunaga Takashi Miida Tetsuo Minamino Shinji Yokoyama Mariko Harada-Shiba Source Type: research

Associations between Supper Timing and Mortality from Cardiovascular Disease among People with and without Hypertension
CONCLUSION: Irregular supper time was associated with an increased risk of CVD mortality. Supper timing could be a surrogate marker for CVD risk.PMID:38538337 | DOI:10.5551/jat.64192 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Tomoki Inui Ryoto Sakaniwa Kokoro Shirai Hironori Imano Maho Ishihara Ehab S Eshak Jiayi Dong Akiko Tamakoshi Hiroyasu Iso Source Type: research

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia
CONCLUSION: Case 1 is a new ABCA1 mutation with complex pathogenicity, namely, a W484*/S1343I compound heterozygote with marked hypo-HDL cholesterolemia. Analyses of the compound heterozygous mutations indicated that decreases in ABCA1 protein levels and cholesterol efflux activity caused by the novel S1343I mutation combined with loss of W484* protein activity could lead to marked hypo-HDL cholesterolemia. Galactocerebrosidase dysfunction could also be a potential confounding factor for ABCA1 protein function.PMID:38538338 | DOI:10.5551/jat.64579 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Yasuhisa Furuta Yoshinori Osaki Yoshimi Nakagawa Song-Iee Han Masaya Araki Akito Shikama Nami Ohuchi Daichi Yamazaki Erika Matsuda Seitaro Nohara Yuhei Mizunoe Kenta Kainoh Yasuhito Suehara Hiroshi Ohno Yoshinori Takeuchi Takafumi Miyamoto Yuki Murayama Y Source Type: research

Transitional Medicine of Intractable Primary Dyslipidemias in Japan
J Atheroscler Thromb. 2024 Mar 26. doi: 10.5551/jat.RV22016. Online ahead of print.ABSTRACTTransitional medicine refers to the seamless continuity of medical care for patients with childhood-onset diseases as they grow into adulthood. The transition of care must be seamless in medical treatment as the patients grow and in other medical aids such as subsidies for medical expenses in the health care system. Inappropriate transitional care, either medical or social, directly causes poorer prognosis for many early-onset diseases, including primary dyslipidemia caused by genetic abnormalities. Many primary dyslipidemias are des...
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Masatsune Ogura Sachiko Okazaki Hiroaki Okazaki Hayato Tada Kazushige Dobashi Kimitoshi Nakamura Keiji Matsunaga Takashi Miida Tetsuo Minamino Shinji Yokoyama Mariko Harada-Shiba Source Type: research

Associations between Supper Timing and Mortality from Cardiovascular Disease among People with and without Hypertension
CONCLUSION: Irregular supper time was associated with an increased risk of CVD mortality. Supper timing could be a surrogate marker for CVD risk.PMID:38538337 | DOI:10.5551/jat.64192 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Tomoki Inui Ryoto Sakaniwa Kokoro Shirai Hironori Imano Maho Ishihara Ehab S Eshak Jiayi Dong Akiko Tamakoshi Hiroyasu Iso Source Type: research

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia
CONCLUSION: Case 1 is a new ABCA1 mutation with complex pathogenicity, namely, a W484*/S1343I compound heterozygote with marked hypo-HDL cholesterolemia. Analyses of the compound heterozygous mutations indicated that decreases in ABCA1 protein levels and cholesterol efflux activity caused by the novel S1343I mutation combined with loss of W484* protein activity could lead to marked hypo-HDL cholesterolemia. Galactocerebrosidase dysfunction could also be a potential confounding factor for ABCA1 protein function.PMID:38538338 | DOI:10.5551/jat.64579 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 27, 2024 Category: Cardiology Authors: Yasuhisa Furuta Yoshinori Osaki Yoshimi Nakagawa Song-Iee Han Masaya Araki Akito Shikama Nami Ohuchi Daichi Yamazaki Erika Matsuda Seitaro Nohara Yuhei Mizunoe Kenta Kainoh Yasuhito Suehara Hiroshi Ohno Yoshinori Takeuchi Takafumi Miyamoto Yuki Murayama Y Source Type: research

The Association of the Cholesterol Efflux Capacity with the Paraoxonase 1 Q192R Genotype and the Paraoxonase Activity
CONCLUSIONS: The PON1 Q192R R allele is associated with reduced CEC in Japanese people without ASCVD. Further studies on the impact of this association on the severity of atherosclerosis and ASCVD development are thus called for.PMID:38508740 | DOI:10.5551/jat.64711 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 20, 2024 Category: Cardiology Authors: Kentaro Oniki Kayoko Ohura Megumi Endo Daniel Akatwijuka Erika Matsumoto Teruya Nakamura Yasuhiro Ogata Minoru Yoshida Mariko Harada-Shiba Junji Saruwatari Masatsune Ogura Teruko Imai Source Type: research

Association between Hemoglobin A1c and Renal Arteriolar Sclerosis in Subjects Presenting without any Apparent Kidney Dysfunction
CONCLUSIONS: Elevated high-normal HbA1c levels are considered to be independent risk factors for arteriolar wall thickening. Subclinical renal arteriolar sclerosis may develop in patients with prediabetic HbA1c levels.PMID:38494705 | DOI:10.5551/jat.64236 (Source: Journal of Atherosclerosis and Thrombosis)
Source: Journal of Atherosclerosis and Thrombosis - March 18, 2024 Category: Cardiology Authors: Yuta Matsukuma Akihiro Tsuchimoto Kosuke Masutani Kenji Ueki Shigeru Tanaka Naoki Haruyama Yasuhiro Okabe Masafumi Nakamura Takanari Kitazono Toshiaki Nakano Source Type: research