[HTML][HTML] Lipophagy and lipolysis status in lipid storage and lipid metabolism diseases

A Kloska, M Węsierska, M Malinowska… - International journal of …, 2020 - mdpi.com
This review discusses how lipophagy and cytosolic lipolysis degrade cellular lipids, as well
as how these pathway ys communicate, how they affect lipid metabolism and energy …

[HTML][HTML] Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases

M Longoni, K Bhasin, A Ward, D Lee… - Frontiers in …, 2023 - frontiersin.org
Background Cardiovascular disease continues to be the leading cause of death globally.
Clinical practice guidelines aimed at improving disease management and positively …

Effects of whole-body vibration training on body composition, cardiometabolic risk, and strength in the population who are overweight and obese: A systematic review …

JÁ Rubio-Arias, LM Martínez-Aranda… - Archives of Physical …, 2021 - Elsevier
Objectives To assess the effects of whole-body vibration training (WBVT) on body
composition, metabolic and cardiovascular risk variables, and lower limb strength in …

[HTML][HTML] Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis

A Mickiewicz, M Futema, A Ćwiklinska, A Kuchta… - Life, 2020 - mdpi.com
Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in∼
40% of cases. The majority of mutation-negative patients have a polygenic cause of high …

Impact of conducting a genetic study on the management of familial hypercholesterolemia

V Marco-Benedí, A Cenarro, À Vila, JT Real… - Journal of Clinical …, 2023 - Elsevier
Background Clinically diagnosed familial hypercholesterolemia (FH) may require a genetic
test (GT) to confirm diagnosis. GT availability/accessibility is resource-dependent and …

Genetic testing for familial hypercholesterolemia in clinical practice

EP Tricou, KM Morgan, M Betts, AC Sturm - Current Atherosclerosis …, 2023 - Springer
Abstract Purpose of Review Genetic testing has proven utility in identifying and diagnosing
individuals with FH. Here we outline the current landscape of genetic testing for FH …

[HTML][HTML] Patient-reported outcomes following genetic testing for familial hypercholesterolemia, breast and ovarian cancer syndrome, and lynch syndrome: A systematic …

RM Hendricks-Sturrup, L Joseph, CY Lu - Journal of Personalized …, 2021 - mdpi.com
Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-
world evidence that can help capture patient experiences and perspectives regarding a …

[HTML][HTML] 家族性高胆固醇血症的基因诊断研究进展

代海兵, 鄢盛恺 - 临床心血管病杂志, 2023 - lcxxg.whuhzzs.com
家族性高胆固醇血症(FH) 是一种常见的常染色体显性或隐性遗传代谢病, 常用的临床诊断标准
主要根据患者的低密度脂蛋白胆固醇(LDL-C) 水平和健康调查信息进行诊断, 其确诊率十分有限 …

[HTML][HTML] Integrating patient-reported outcomes into clinical genetic testing for familial hypercholesterolemia

RM Hendricks-Sturrup, R Block… - Journal of Patient-Centered …, 2021 - ncbi.nlm.nih.gov
Patient-reported outcomes (PROs) and PRO measures (PROMs) are often used to help
clinicians and researchers understand patients' personal concerns, feelings, experiences …

[HTML][HTML] Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia

HY Shu, W Zhang, CC Zheng, MY Gao, YC Li… - Frontiers in …, 2021 - frontiersin.org
We report a single-point variant of low-density lipoprotein receptor (LDLR) in a Chinese
proband with a clinical diagnosis of familial hypercholesterolemia (FH) with a …