Cargando…

Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients

Definitive diagnosis of familial hypercholesterolemia (FH) is paramount for the risk management of patients and their relatives. The present study aimed to investigate the frequency of gene variants contributing to low-density lipoprotein cholesterol (LDL-C) metabolism and their clinical relevance i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Miyama, Hiroshi, Katsumata, Yoshinori, Momoi, Mizuki, Ichihara, Genki, Fujisawa, Taishi, Endo, Jin, Kawakami, Takashi, Kataoka, Masaharu, Yuasa, Shinsuke, Sano, Motoaki, Sato, Kazuki, Fukuda, Keiichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162874/ https://www.ncbi.nlm.nih.gov/pubmed/37151871 http://dx.doi.org/10.1155/2023/2236422

Ejemplares similares

Autoimmune hypophysitis as a cause of adrenocorticotropic hormone deficiency in pulmonary arterial hypertension: a case report
por: Ichihara, Genki, et al.
Publicado: (2021)

TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension
por: Shinya, Yoshiki, et al.
Publicado: (2021)

Pharmacokinetics of a single inhalation of hydrogen gas in pigs
por: Sano, Motoaki, et al.
Publicado: (2020)

Exercise prescription using an insertable cardiac monitor in a patient with catecholaminergic polymorphic ventricular tachycardia
por: Momoi, Mizuki, et al.
Publicado: (2021)

Laminar flow ventilation system to prevent airborne infection during exercise in the COVID-19 crisis: A single-center observational study
por: Katsumata, Yoshinori, et al.
Publicado: (2021)

MerTK Expression and ERK Activation Are Essential for the Functional Maturation of Osteopontin‐Producing Reparative Macrophages After Myocardial Infarction
por: Shirakawa, Kohsuke, et al.
Publicado: (2020)

Pharmacokinetics of hydrogen after ingesting a hydrogen-rich solution: A study in pigs
por: Ichihara, Genki, et al.
Publicado: (2021)

Qualitative and Quantitative Effects of Fatty Acids Involved in Heart Diseases
por: Moriyama, Hidenori, et al.
Publicado: (2022)

Low-Flow Nasal Cannula Hydrogen Therapy
por: Sano, Motoaki, et al.
Publicado: (2020)

Negative legacy of obesity
por: Shirakawa, Kohsuke, et al.
Publicado: (2017)

TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension
por: Hiraide, Takahiro, et al.
Publicado: (2021)

Artificial intelligence to predict needs for urgent revascularization from 12-leads electrocardiography in emergency patients
por: Goto, Shinichi, et al.
Publicado: (2019)

Percutaneous coronary intervention in a patient with homozygous RNF213 variant
por: Yashima, Fumiaki, et al.
Publicado: (2022)

Improvement in the electrocardiograms associated with right ventricular hypertrophy after balloon pulmonary angioplasty in chronic thromboembolic pulmonary hypertension
por: Nishiyama, Takahiko, et al.
Publicado: (2018)

Impact of additional selexipag on prostacyclin infusion analogs in patients with pulmonary arterial hypertension
por: Momoi, Mizuki, et al.
Publicado: (2022)

Delineation of conduction gaps of linear lesions during atrial fibrillation ablation using ultra-high-density mapping
por: Hashimoto, Kenji, et al.
Publicado: (2023)

H(2) Inhibits the Formation of Neutrophil Extracellular Traps
por: Shirakawa, Kohsuke, et al.
Publicado: (2022)

Triple oral combination therapy with macitentan, riociguat, and selexipag for pulmonary arterial hypertension
por: Momoi, Mizuki, et al.
Publicado: (2021)

Arterial methemoglobin level predicts therapeutic effectiveness of the PDE5 inhibitors in patients with in idiopathic pulmonary arterial hypertension
por: Tamura, Yuichi, et al.
Publicado: (2011)

Change in the local impedance and electrograms recorded by a micro‐electrode tip catheter during initial atrial fibrillation ablation
por: Hashimoto, Kenji, et al.
Publicado: (2021)

Effect of Tricuspid Regurgitation on the Reported Quality of Life and Subsequent Outcomes in Patients With Atrial Fibrillation
por: Fujisawa, Taishi, et al.
Publicado: (2022)

RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies
por: Hiraide, Takahiro, et al.
Publicado: (2022)

Predictors of Improvement in Exercise Tolerance After Balloon Pulmonary Angioplasty for Chronic Thromboembolic Pulmonary Hypertension
por: Daigo, Kyohei, et al.
Publicado: (2023)

Factors related to instrumental activities of daily living in persons with chronic thromboembolic pulmonary hypertension
por: Iwasawa, Tatsuya, et al.
Publicado: (2021)

Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome
por: Fujisawa, Taishi, et al.
Publicado: (2020)

Preferences on advance care planning and end‐of‐life care in patients hospitalized for heart failure
por: Kitakata, Hiroki, et al.
Publicado: (2021)

Visualization of in vivo metabolic flows reveals accelerated utilization of glucose and lactate in penumbra of ischemic heart
por: Sugiura, Yuki, et al.
Publicado: (2016)

Patient Perspectives in the Era of Remote Medical Visits During the Coronavirus Disease (COVID-19) Pandemic　― Insights From Outpatient Care of Cardiovascular Disease ―
por: Kitakata, Hiroki, et al.
Publicado: (2021)

Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty
por: Ko, Seien, et al.
Publicado: (2020)

Social Isolation and Implementation of Advanced Care Planning Among Hospitalized Patients With Heart Failure
por: Kitakata, Hiroki, et al.
Publicado: (2022)

Long-term Follow-up of Qing-Dai–Induced Pulmonary Arterial Hypertension: A Case Series
por: Matsushima, Takahide, et al.
Publicado: (2023)

Evaluation of Differences in Automated QT/QTc Measurements between Fukuda Denshi and Nihon Koden Systems
por: Sano, Motoaki, et al.
Publicado: (2014)

(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axis
por: Yoshida, Naohiro, et al.
Publicado: (2019)

Decrease in membrane phospholipids unsaturation correlates with myocardial diastolic dysfunction
por: Yamamoto, Tsunehisa, et al.
Publicado: (2018)

Upregulation of neuropeptide Y in cardiac sympathetic nerves induces stress (Takotsubo) cardiomyopathy
por: Arai, Takahide, et al.
Publicado: (2022)

Characteristics and health‐status outcomes in patients with atrial fibrillation detected via health screening
por: Yamashita, Terumasa, et al.
Publicado: (2022)

Influence of long term administration of tofogliflozin on chronic inflammation of visceral adipose tissue in mice with obesity induced by a high-fat diet
por: Shirakawa, Kohsuke, et al.
Publicado: (2019)

Psychological disturbances and their association with sleep disturbances in patients admitted for cardiovascular diseases
por: Matsuda, Risa, et al.
Publicado: (2021)

Pharmacokinetics of hydrogen administered intraperitoneally as hydrogen-rich saline and its effect on ischemic neuronal cell death in the brain in gerbils
por: Hirano, Momoko, et al.
Publicado: (2022)

Therapeutic impact of dietary vitamin D supplementation for preventing right ventricular remodeling and improving survival in pulmonary hypertension
por: Tanaka, Hiroaki, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_1dkue348bdfscp39o5g9geqm96