Familial hypercholesterolemia diagnostic challenge: Is Artificial Intelligence the key? DOI
Maria Margarida Andrade, Tiago Neto Gonçalves, Diogo Cruz

и другие.

Atherosclerosis, Год журнала: 2023, Номер 391, С. 117435 - 117435

Опубликована: Дек. 27, 2023

Язык: Английский

Breaking genetic shackles: The advance of base editing in genetic disorder treatment DOI Creative Commons

Fang Xu,

Caiyan Zheng,

Weihui Xu

и другие.

Frontiers in Pharmacology, Год журнала: 2024, Номер 15

Опубликована: Март 6, 2024

The rapid evolution of gene editing technology has markedly improved the outlook for treating genetic diseases. Base editing, recognized as an exceptionally precise modification tool, is emerging a focus in realm disease therapy. We provide comprehensive overview fundamental principles and delivery methods cytosine base editors (CBE), adenine (ABE), RNA editors, with particular on their applications recent research advances treatment have also explored potential challenges faced by treatment, including aspects such targeting specificity, safety, efficacy, enumerated series possible solutions to propel clinical translation technology. In conclusion, this article not only underscores present state but envisions its tremendous future, providing novel perspective It vast medicine, support progression medicine development innovative approaches

Язык: Английский

Процитировано

9

Long-term outcomes of liver transplantation for homozygous familial hypercholesterolaemia in Australia and New Zealand DOI Open Access
Michael M. Page, Winita Hardikar, George Alex

и другие.

Atherosclerosis, Год журнала: 2023, Номер 387, С. 117305 - 117305

Опубликована: Окт. 10, 2023

Язык: Английский

Процитировано

11

Casz1 and Znf101/Zfp961 differentially regulate apolipoproteins A1 and B, alter plasma lipoproteins, and reduce atherosclerosis DOI Creative Commons
Abulaish Ansari, Pradeep Kumar Yadav,

Liye Zhou

и другие.

JCI Insight, Год журнала: 2025, Номер 10(1)

Опубликована: Янв. 8, 2025

High apolipoprotein B–containing (apoB-containing) low-density lipoproteins (LDLs) and low apoA1–containing high-density (HDLs) are associated with atherosclerotic cardiovascular diseases. In search of a molecular regulator that could simultaneously reciprocally control both LDL HDL levels, we screened microRNA (miR) library using human hepatoma Huh-7 cells. We identified miR-541-3p significantly decreases apoB increases apoA1 expression by inducing mRNA degradation 2 different transcription factors, Znf101 Casz1. found enhances expression, while Casz1 represses expression. The hepatic knockdown in mice increased plasma apoA1, HDL, cholesterol efflux capacity. Zfp961, an ortholog Znf101, reduced lipogenesis production triglyceride-rich atherosclerosis, without causing lipid accumulation. This study identifies Znf101/Zfp961 as potential therapeutic targets to alter reduce atherosclerosis liver steatosis.

Язык: Английский

Процитировано

0

Quo Vadis after AEGIS: New Opportunities for Therapies Targeted at Reverse Cholesterol Transport? DOI Creative Commons
N. Lan,

Gerald F. Watts

Current Atherosclerosis Reports, Год журнала: 2025, Номер 27(1)

Опубликована: Фев. 26, 2025

Abstract Purpose of Review High-density lipoprotein (HDL) is integral to reverse cholesterol transport (RCT), a process considered protect against atherosclerotic cardiovascular disease (ASCVD). We summarise findings from the recent AEGIS-II trial and discuss new opportunities for HDL therapeutics targeted at RCT. Recent Findings Mendelian randomisation studies have suggested causal association between functional properties ASCVD. However, CSL112, an apolipoprotein A-I therapy that enhances efflux, did not meet its primary endpoint. Exploratory analyses demonstrated CSL112 significantly reduced ASCVD events among participants with baseline low-density (LDL)-cholesterol ≥ 100 mg/dL, suggesting RCT may depend on LDL-cholesterol levels. Summary The role in patients familial hypercholesterolaemia, inherited low HDL-cholesterol impaired function, especially inadequately controlled LDL-cholesterol, merits further investigation. treatment monogenic defects metabolism remains significant gap care needs research.

Язык: Английский

Процитировано

0

Familial hypercholesterolemia in pregnancy DOI
Fahad Alnouri, Frederick J. Raal

Current Opinion in Lipidology, Год журнала: 2025, Номер unknown

Опубликована: Март 7, 2025

Purpose of review Individuals with familial hypercholesterolemia (FH), particularly those homozygous FH (HoFH) who have markedly elevated LDL-cholesterol (LDL-C) levels from birth, present unique complications during pregnancy. This explores the complexities care Recent findings The worldwide burden is much greater than previously thought. Still, underdiagnosis and undertreatment are substantial, necessitating increased awareness, genetic screening efforts, better access to diagnostic tools. Although there guidance for implementing best practices in FH, including pregnancy, currently, no evidence-based guidelines that address HoFH at time pregnancy planning or lactation. Summary management requires a reasonable balance between fetal safety maternal LDL-C control. Discontinuing lipid-lowering medication postpartum period needs be considered, severe cases, lipoprotein apheresis may an appropriate substitute. Comprehensive patient coordination by counselors, cardiologists, lipidologists, obstetricians. further research enhancement public knowledge, cooperation. By focusing on these areas, we can make significant progress diagnostics develop efficient plans improving outcomes among pregnant women HoFH.

Язык: Английский

Процитировано

0

Expert consensus document on artificial intelligence of the Italian Society of Cardiology DOI
Ciro Indolfi, Elisabetta Salvioni, Francesco Barillà

и другие.

Journal of Cardiovascular Medicine, Год журнала: 2025, Номер 26(5), С. 200 - 215

Опубликована: Март 28, 2025

Artificial intelligence (AI), a branch of computer science focused on developing algorithms that replicate intelligent behaviour, has recently been used in patients management by enhancing diagnostic and prognostic capabilities various resources such as hospital datasets, electrocardiograms echocardiographic acquisitions. Machine learning (ML) deep (DL) models, both key subsets AI, have demonstrated robust applications across several cardiovascular diseases, from the most diffuse like hypertension ischemic heart disease to rare infiltrative cardiomyopathies, well estimation LDL cholesterol which can be achieved with better accuracy through AI. Additional emerging are encountered when unsupervised ML methodology shows promising results identifying distinct clusters or phenotypes atrial fibrillation may different risks stroke response therapy. Interestingly, since techniques do not analyse possibility specific pathology occur but rather trajectory each subject chain events lead occurrence pathologies, it considered DL, resembling complexity human brain using artificial neural networks, might support clinical processing large amounts complex information; however, external validity cannot taken for granted, while interpretability an issue, also known “black box” problem. Notwithstanding these considerations, facilities governments willing unlock potential AI order reach final step healthcare advancements ensuring patient safety equity preserved.

Язык: Английский

Процитировано

0

Monoclonal antibodies for dyslipidemia in adults: a focus on vulnerable patients groups DOI
Na‐Qiong Wu,

Zhi-Fan Li,

Meng-Ying Lu

и другие.

Expert Opinion on Biological Therapy, Год журнала: 2024, Номер 24(3), С. 157 - 169

Опубликована: Фев. 20, 2024

Dyslipidemia significantly contributes to atherosclerotic cardiovascular disease (ASCVD). Patients with lipid-rich vulnerable plaques are particularly susceptible complications. Despite available lipid-lowering therapies (LLTs), challenges in effective lipid management remain.

Язык: Английский

Процитировано

2

PCSK9 inhibition and broad health outcomes: A Mendelian randomization phenome‑wide association study DOI Creative Commons
Kai Zhang, Qin Bian

Pharmacological Research, Год журнала: 2024, Номер 203, С. 107177 - 107177

Опубликована: Апрель 10, 2024

Язык: Английский

Процитировано

0

Effectiveness and safety of PCSK9 inhibitors in children with family hypercholesterolemia DOI

R. A. Khachaturyan,

L. D. Khidirova,

A. E. Karavozova

и другие.

Medical alphabet, Год журнала: 2024, Номер 13, С. 74 - 80

Опубликована: Май 14, 2024

Familial hypercholesterolemia (CGHS) is a monogenic disease with predominantly autosomal dominant type of inheritance, accompanied by significant increase in the level low-density lipoprotein cholesterol blood, and as result, premature development progressive course atherosclerosis, usually at young age. One common causes mutation PCSK9 gene. Proprotein convertase subtilisin/kexin 9 (PCSK9) main link regulation blood lipid metabolism due to its direct participation degradation LDL receptors. Currently, only evolocumab used inhibitors children over 12 years age Russian Federation, which has proven safety steady reduction pediatric patients HES. Another representative this pharmacological group alirocumab, currently indicated for people 18, lack evidence children.

Язык: Английский

Процитировано

0

Assessing the predictive value of the controlling nutritional status score on all-cause mortality during hospitalization in patients with acute decompensated heart failure: a retrospective cohort study from Jiangxi, China DOI Creative Commons
Xin Huang, Jiajun Qiu,

Maobin Kuang

и другие.

Frontiers in Nutrition, Год журнала: 2024, Номер 11

Опубликована: Июль 5, 2024

Nutritional status is closely associated with the prognosis of heart failure. This study aims to assess relationship between Controlling Status (CONUT) score and in-hospital mortality among patients acute decompensated failure (ADHF) in Jiangxi, China. A retrospective cohort was conducted. Multivariable Cox regression models restricted cubic spline were employed evaluate CONUT ADHF from The predictive value for analyzed using receiver operating characteristic curves. Subgroup analyses performed identify risk dependencies specific populations. included 1,230 patients, whom 44 (3.58%) events recorded. After adjusting confounding factors, a positive correlation found patients. Restricted analysis indicated non-linear estimating rapid increase when exceeded 5. Receiver demonstrated good all-cause [area under curve = 0.7625, optimal threshold 5.5]. Additionally, relatively higher observed male those concomitant cerebral infarction. reveals Based on findings this study, we recommend maintaining below 5 China, as it may significantly contribute reducing mortality.

Язык: Английский

Процитировано

0