Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

Deng, Libin; Xu, Jingsong; Chen, Wei; Guo, Shicheng; Steiner, Robert D.; Chen, Qi; Cheng, Zhujun; Xu, Ye; Yao, Bei; Li, Xiaoyan; Wang, Xiaozhong; Deng, Ke-Yu; Schrodi, Steven J.; Zhang, Dake; Xin, Hong‐Bo

doi:10.3389/fgene.2021.769699

Cited by 3 publications

(3 citation statements)

References 43 publications

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“…In the distributed questionnaire, each statement used a Likert scale consisting of strongly disagree with a score of 1 to agree with a 5 strongly. The development of an instrument on a questionnaire with a scale of 1-5 was assessed for validity and reliability to produce a valid and quality instrument [29][30].…”

Section: Methodsmentioning

confidence: 99%

Development of critical thinking variable instruments in student worksheet media

Radeswandri,

Salsabilla,

Rian Vebrianto

et al. 2023

J. Pijar.MIPA

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In the 21st Century, students' critical thinking abilities are needed to utilize their knowledge in problem-solving. Also, these skills are very important for students in making decisions when faced with various choices. This study aimed to see the effectiveness of students' critical thinking variables in the learning process. This study used a Research and Development (RND) method with an instrument in the form of a questionnaire consisting of 2 constructs. This study was carried out by involving seven teachers from several schools. Data collection was carried out by filling out an online questionnaire. Data were then analyzed with the help of the SPSS program. The results of this study prove that the preparation and development of the evaluation instrument of critical thinking variables in student worksheet media for students in this study were carried out by testing two research constructs, namely accuracy and effectiveness variables. Furthermore, the results of testing the validity and reliability indicate that the data validity of the evaluation instrument meets the valid criteria. Also, the results of this study indicate that the instrument developed meets the requirements for use in the development of student worksheet media.

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Section: Methodsmentioning

confidence: 99%

Development of critical thinking variable instruments in student worksheet media

Radeswandri,

Salsabilla,

Rian Vebrianto

et al. 2023

J. Pijar.MIPA

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“…Another therapeutic approach is the use of Statins® and Ezetimibe® to regulate high levels of cholesterol in the blood. Ezetimibe® blocks the NPC1L1 protein in the jejunal brush border, reducing the uptake of intestinal lumen micelles into the enterocyte, thus preventing the formation of NPC1L1 ( 37 ). However, the main side effects are muscular toxicity, hepatotoxicity, renal toxicity, and neurocognitive effects ( 11 ).…”

Section: Literature Reviewmentioning

confidence: 99%

Eryngium Species as a Potential Ally for Treating Metabolic Syndrome and Diabetes

et al. 2022

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Medicinal plants possess natural compounds that can be used as an alternative for synthetic medicines that may cause long-term side effects on patients such as neurocognitive effects, muscular and hepatic toxicity. Metabolic Syndrome is associated with increased risk of several diseases such as diabetes, cardiovascular disease, dyslipidemia, and hypertension thus, becoming the greatest challenge as a growing public health concern worldwide. Latin-American countries possess a wide diversity of medicinal plants that have been used to treat different health conditions since pre-Hispanic times. Eryngium spp. has been studied due to their beneficial properties mainly to treat diabetes, dyslipidemia, blood pressure, and digestive problems. This review gives an update mainly on the pharmacological activities of the Eryngium spp., summarizing the biological activities and plausible mechanism of action of their bioactive components toward metabolic syndrome. For instance, flavonoids and tannins proved to increase the levels of HDL and reduced the levels of VLDL, LDL. On the other hand, phenolic acids improved glucose metabolism through the inhibition of phosphoenolpyruvate carboxykinase and glucose 6-phosphatase (G6Pase) and reestablished the impaired activity of enzymes related to glucose oxidation and glycogen synthesis. The terpenes and sesquiterpenes like β-farnese, β-pinene, and calamenene exhibited a protective effect by reducing the oxidizing damage by the regulation of the Reactive Oxygen Species (ROS). Saponins controlled the dyslipidemia by reducing the serum concentrations of lipids, triglycerides and total cholesterol. Finally, the aerial parts of Eryngium had the capacity of inhibiting dietary carbohydrate digestive enzymes, thus controlling glucose levels. The Eryngium plant is normally consumed as an infusion to obtain the benefits of the plants, however novel technologies such as cavitation, ultrasound assisted, microwave assisted, and supercritical fluid have been applied to improve the extraction yields and selectivity of bioactive compounds. The common treatment to control diabetic dyslipidemia are synthetic medicines such as metformin and ezetimibe, which allows the regulation of glucose, cholesterol and insulin resistance. However, patients that take these medications may present side effects such as muscular toxicity, hepatic toxicity, neurocognitive effects, just to name a few. More studies regarding the efficacy and safety of the use of traditional medicinal herbs are required. However, these materials may be used in the treatment of diabetes related conditions to ensure life quality and reduce side effects among the diabetic population

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“… 17 Hence, medical intervention consists of a sterol-free diet and the sterol absorption inhibitor, ezetimibe. 18 , 19 …”

Section: Introductionmentioning

confidence: 99%

Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations

Del Castillo,

Tool,

van Leeuwen

et al. 2024

Blood Advances

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Sitosterolemia is a rare autosomal-recessive genetic disorder in which patients develop hypercholesterolemia, and may exhibit abnormal hematologic and/or liver test results. In this disease, dysfunction of either ABCG5 or ABCG8 results in intestinal hyperabsorption of all sterols, including cholesterol and more specifically plant sterols or xenosterols, as well as in the impaired ability to excrete xenosterols into the bile. It remains unknown how and why some patients develop hematologic abnormalities. Only a few unrelated patients with hematologic abnormalities at the time of diagnosis have been reported. Here, we report on two unrelated pedigrees who were believed to have chronic immune thrombocytopenia as most prominent feature. Both consanguineous families showed recessive gene variants in ABCG5, that were associated with disease by in-silico protein structure analysis as well as clinical segregation. Hepatosplenomegaly was absent. Thrombopoietin levels and megakaryocyte numbers in bone marrow were normal. Metabolic analysis confirmed the presence of strongly elevated plasma levels of xenosterols. Potential platelet proteomic aberrations were longitudinally assessed following dietary restrictions combined with the administration of the sterol absorption inhibitor ezetimibe. No significant effects on platelet protein content before and after onset of treatment were demonstrated. Although we cannot exclude that lipotoxicity has a direct and platelet-specific impact in patients with sitosterolemia, our data suggest that the thrombocytopenia is neither caused by a lack of megakaryocytes nor driven by proteomic aberrations of the platelets themselves.

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Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

Cited by 3 publications

References 43 publications

Development of critical thinking variable instruments in student worksheet media

Development of critical thinking variable instruments in student worksheet media

Eryngium Species as a Potential Ally for Treating Metabolic Syndrome and Diabetes

Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations

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