Article
Cardiac & Cardiovascular Systems
Leopoldo Perez de Isla, Jose L. Diaz-Diaz, Manuel J. Romero, Ovidio Muniz-Grijalvo, Juan D. Mediavilla, Rosa F. Argueso, Juan F. Sanchez Munoz-Torrero, Patricia Rubio, Pilar Alvarez-Banos, Paola Ponte, Dolores Manas, Lorena Suarez Gutierrez, Jose Maria Cepeda, Marta Casanas, Francisco Fuentes, Carlos Guijarro, Miguel Angel Barba, Adriana Saltijeral Cerezo, Teresa Padro, Pedro Mata
Summary: This study aimed to assess the effect of alirocumab on coronary plaque burden and its characteristics in patients with familial hypercholesterolemia. The results showed that treatment with alirocumab in addition to high-intensity statin therapy resulted in significant improvement in coronary plaque burden and characteristics after 78 weeks.
Article
Cardiac & Cardiovascular Systems
Hyeji Lee, Kyung Sun Park, Young-Jee Jeon, Eun Ji Park, Sangwoo Park, Soe Hee Ann, Yong-Giun Kim, Yongjik Lee, Seong Hoon Choi, Gyung-Min Park
Summary: In asymptomatic individuals, higher levels of Lp(a) are associated with subclinical coronary atherosclerosis. The severity and extent of coronary plaques increase with higher levels of Lp(a).
Article
Medicine, Research & Experimental
Zhelong Li, Ping Zhao, Yajun Zhang, Jia Wang, Chen Wang, Yunnan Liu, Guodong Yang, Lijun Yuan
Summary: The study demonstrated that exosome-mediated delivery of Ldlr mRNA effectively restored receptor expression in Ldlr(-/-) mice, treating the disorders and reducing atherosclerotic plaque formation. Exo(Ldlr) treatment significantly decreased lipid deposition in the liver and lowered LDL-cholesterol levels in the treated mice, providing a new therapeutic approach for FH patients and managing atherosclerosis.
Article
Cardiac & Cardiovascular Systems
Sayaka Funabashi, Yu Kataoka, Mika Hori, Masatsune Ogura, Takahito Doi, Teruo Noguchi, Mariko Harada-Shiba
Summary: The study found that elevated Lp(a) levels in HeFH patients predicted the occurrence of polyVD. This suggests that patients with HeFH and Lp(a) >= 50 mg/dL are at high risk and require meticulous screening of systemic vascular beds.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Federica Catapano, Nicola Galea, Giacomo Pambianchi, Laura D'Erasmo, Cristian Borrazzo, Giulia Cundari, Livia Marchitelli, Marianna Maranghi, Ilenia Minicocci, Alessia Di Costanzo, Iacopo Carbone, Marco Francone, Marcello Arca, Carlo Catalano
Summary: The performance of clinical scoring systems, including MFHS, SAFEHEART-RE, FHRS, and DLCN, in predicting the extent and severity of CAD in asymptomatic FH patients was investigated. The results showed that MFHS had the best discriminatory power, followed by FHRS and SAFEHEART-RE.
Article
Endocrinology & Metabolism
Berit Storgaard Hedegaard, Borge Gronne Nordestgaard, Helle Lynge Kanstrup, Kristian Korsgaard Thomsen, Jan Bech, Lia Evi Bang, Finn Lund Henriksen, Lars Juel Andersen, Thomas Gohr, Linnea Hornbech Larsen, Anne Merete Boas Soja, Frank-Peter Elpert, Tomas Joen Jakobsen, Anette Sjol, Albert Marni Joensen, Ib Christian Klausen, Erik Berg Schmidt, Christian Sorensen Bork
Summary: This study investigated the presence of lipoprotein(a) in individuals referred to Danish lipid clinics and found that elevated lipoprotein(a) played a role in a quarter of individuals who met the diagnosis criteria for clinical familial hypercholesterolemia (FH).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Genetics & Heredity
Akos Nemeth, Balint Daroczy, Lilla Juhasz, Peter Fulop, Mariann Harangi, Gyoergy Paragh
Summary: The association between serum Lp(a) levels and atherosclerotic vascular diseases in Hungarian FH patients may be influenced by other risk factors that mask the deleterious effects of Lp(a), leading to the inability to find significant correlations.
FRONTIERS IN GENETICS
(2022)
Review
Medicine, General & Internal
Fahad Alnouri, Raul D. Santos
Summary: Familial hypercholesterolemia (FH) is associated with an increased risk of atherosclerosis. In heterozygous FH, cardiovascular risk is not only determined by high cholesterol levels but also by other biomarkers and genes. Specific atherosclerosis risk scores for FH and imaging of subclinical coronary atherosclerosis can help identify high-risk individuals.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cell Biology
Hsin Tung, Hsueh-Ju Lin, Po-Lin Chen, Tsai-Jung Lu, Pei-Pei Jhan, Jun-Peng Chen, Yi-Ming Chen, Chen-Chin Wu, Yung-Yang Lin, Tzu-Hung Hsiao
Summary: This study suggests that ischemic stroke patients carrying FH pathogenic variants are more likely to experience large artery stroke and transient ischemic attack. IMT examination may be useful in screening for FH in hypercholesterolemic stroke patients.
Article
Cardiac & Cardiovascular Systems
Laurits Juhl Heinsen, Gokulan Pararajasingam, Thomas Rueskov Andersen, Soren Auscher, Hussam Mahmoud Sheta, Helle Precht, Jess Lambrechtsen, Kenneth Egstrup
Summary: This study found a high prevalence of HRP in asymptomatic T2D patients, with HRP detection associated with specific patient characteristics. HRP was not correlated with high CACS, as HRP could be found even in patients with zero CACS.
CARDIOVASCULAR DIABETOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Cheng Wang, Puliang Yu, Lizhi Hu, Minglu Liang, Yi Mao, Qiutang Zeng, Xiang Wang, Kai Huang, Jin Yan, Li Xie, Fengxiao Zhang, Feng Zhu
Summary: Familial hypercholesterolemia (FH) is associated with the prognosis of acute coronary syndrome (ACS), with more severe coronary artery lesions and higher LDL-C levels in FH patients. FH is an independent risk factor for cardiovascular events in ACS, highlighting the importance of genetic testing for FH-related gene mutations in ACS patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Kevin Chemello, Javier Garcia-Nafria, Antonio Gallo, Cesar Martin, Gilles Lambert, Dirk Blom
Summary: Familial hypercholesterolemia is a common genetic disorder characterized by high levels of LDL-C and increased risk of premature cardiovascular events. Research focuses on clinical phenotypes, genetic variants, and therapeutic approaches.
JOURNAL OF LIPID RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli
Summary: Familial hypercholesterolemia is a common genetic disorder that leads to early development of cardiovascular disease and premature death. Early diagnosis and aggressive treatment are crucial for preventing complications. Diagnosis is mainly based on clinical and genetic factors, and widespread screening programs are recommended for early detection. Treatment includes lifestyle changes, standard medications, and new pharmacological agents, which show promising results for severe cases and patients who cannot tolerate other treatments.
Article
Medical Laboratory Technology
Silvia de la Cruz-Ares, Ana Leon-Acuna, Elena M. Yubero-Serrano, Jose D. Torres-Pena, Antonio P. Arenas-de Larriva, Magdalena P. Cardelo, Oriol A. Rangel-Zuniga, Raul M. Luque, Juan F. Alcala-Diaz, Jose M. Ordovas, Pablo Perez-Martinez, Jose Lopez-Miranda, Javier Delgado-Lista
Summary: This study investigated the association between lipoprotein subfractions and the severity of coronary heart disease (CHD) using high-throughput nuclear magnetic resonance (NMR) spectroscopy. The results showed that small and medium HDL subclasses concentration, as measured by NMR, were inversely related to angiographic CHD severity. These particles were also found to be independent predictors of multivessel coronary disease (MVD) and improved the prediction of this condition compared to traditional risk factors.
CLINICA CHIMICA ACTA
(2022)
Article
Medical Laboratory Technology
Takuya Minamizuka, Junji Kobayashi, Hayato Tada, Masaya Koshizaka, Yoshiro Maezawa, Koutaro Yokote
Summary: The prevalence of familial lipoprotein lipase deficiency (LPLD) is rare, and its relationship with coronary artery disease is still unclear. This study conducted coronary computed tomographic angiography on two elderly patients with confirmed LPLD and found no coronary artery stenosis, suggesting that LPLD may not be associated with coronary artery disease.
CLINICAL BIOCHEMISTRY
(2022)
Article
Genetics & Heredity
Joana R. Chora, Michael A. Iacocca, Lukas Tichy, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre Costa Pereira, Cinthia E. Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Premysl Soucek, Michal Kramarek, Sarah E. Leigh, Alain Carrie, Eric J. Sijbrands, Robert A. Hegele, Tomas Freiberger, Joshua W. Knowles, Mafalda Bourbon
Summary: This study provides consensus recommendations for the classification of LDLR variants in Familial Hypercholesterolemia (FH) based on modified guidelines. The establishment of these guidelines as the new standard can improve the accuracy and consistency of LDLR variant classification, thereby enhancing the care of patients with FH.
GENETICS IN MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Rolien Bosch, Marcella Petrone, Rosalin Arends, Paolo Vicini, Eric J. G. Sijbrands, Sven Hoefman, Nelleke Snelder
Summary: GLP-1 receptor agonists and dual GLP-1/glucagon receptor agonists improve glycaemic control and cause weight loss in patients with type 2 diabetes by enhancing insulin release, reducing caloric intake, and delaying gastric emptying. The 4GI model integrates various drug effects on glucose regulatory pathways and provides quantitative insights to support the development of novel therapies and combination strategies.
CPT-PHARMACOMETRICS & SYSTEMS PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Navin Suthahar, Kan Wang, Victor W. Zwartkruis, Stephan J. L. Bakker, Silvio E. Inzucchi, Tim R. Eijgenraam, Fariba Ahmadizar, Eric G. Sijbrands, Ron T. Gansevoort, Lyanne M. Kieneker, Dirk J. van Veldhuisen, Maryam Kavousi, Rudolf A. de Boer
Summary: Relative fat mass (RFM), a novel anthropometric equation based on height and waist measurements, is strongly associated with incident type-2 diabetes (T2D) and shows potential as a predictor of future diabetes risk in the general population, outperforming BMI, waist circumference, and waist-to-hip ratio.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Dermatology
Debby Wensink, Margreet A. E. M. Wagenmakers, J. H. Paul Wilson, Janneke G. Langendonk
Summary: A study conducted in the Netherlands investigated the clinical and social aspects of living with EPP and the effects of afamelanotide treatment on EPP patients. The study found that EPP patients experienced severe burning pain after light exposure and had a reduced quality of life. However, afamelanotide treatment significantly improved the patients' quality of life, social functioning, and possibly employment rate.
JOURNAL OF DERMATOLOGY
(2023)
Article
Geriatrics & Gerontology
Kan Wang, Hui Gao, Eric J. G. Sijbrands, Maryam Kavousi, Fariba Ahmadizar
Summary: The impact of glycemic impairment (normoglycemia, prediabetes and diabetes) on cognition and physical function is inconsistent. This population-based cohort study found that baseline diabetes was associated with a faster decline in orientation and an increase in physical function score. No effect of prediabetes on cognition and physical function was observed.
Article
Cardiac & Cardiovascular Systems
Sunny S. Singh, Janine E. van der Toorn, Eric J. G. Sijbrands, Yolanda B. de Rijke, Maryam Kavousi, Daniel Bos
Summary: This study aimed to investigate the association between Lp(a) and arteriosclerosis. The results showed that higher levels of Lp(a) were consistently associated with increased calcification volumes in multiple arteries, including coronary arteries, aortic arch, and carotid arteries. The findings suggest that Lp(a) is a systemic risk factor for arteriosclerosis, highlighting its potential as a target for treatment.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Multidisciplinary Sciences
Jip W. T. M. de Kok, Miguel a. Armengol de la Hoz, Ymke de Jong, Veronique Brokke, Paul W. G. Elbers, Patrick Thoral, Alejandro M. Castillejo, Tomas E. Trenor, Jose M. Castellano, Alberto Bronchalo, Tobias Merz, Martin Faltys, Cristina Casares, Araceli Jimenez, Jaime Requejo, Sonia Gutierrez, David Curto, Gunnar M. Raetsch, Jan H. Peppink, Ronald Driessen, Eric J. G. Sijbrands, Erwin J. O. Kompanje, Armand R. J. Girbes, Jose Barberan, Jose Felipe Varona, Paula Villares, Iwan C. C. van der Horst, Minnan Xu, Leo Anthony Celi, Bas C. T. van Bussel, Xavier Borrat
Summary: Sharing healthcare data is crucial for enhancing patient care at the ICU, but it is challenging due to EU privacy regulations. To address this, we studied four successful open ICU healthcare databases to explore appropriate ways of sharing healthcare data in the EU. Through a questionnaire and discussions with experts, we identified four approaches and formulated seven recommendations for open healthcare data sharing, considering data security, ease of use, sustainability, and implementability.
Article
Endocrinology & Metabolism
Nicoline Uglebjerg, Fariba Ahmadizar, Dina M. Aly, Marisa Canadas-Garre, Claire Hill, Annemieke Naber, Asmundur Oddsson, Sunny S. Singh, Laura Smyth, David-Alexandre Tregouet, Layal Chaker, Mohsen Ghanbari, Valgerdur Steinthorsdottir, Emma Ahlqvist, Samy Hadjadj, Mandy Van Hoek, Maryam Kavousi, Amy Jayne McKnight, Eric J. Sijbrands, Kari Stefansson, Matias Simons, Peter Rossing, Tarunveer S. Ahluwalia
Summary: This study aims to explore the association between four missense variants in the CUBN gene and estimated glomerular filtration rate (eGFR) and investigate their effects on kidney-related traits. The results show significant positive associations between these variants and eGFR in individuals without diabetes.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Hematology
Alexander S. F. Berry, Laney K. Jones, Eric J. Sijbrands, Samuel S. Gidding, Matthew T. Oetjens
Summary: This study found that genetic subtyping based on monogenic familial hypercholesterolemia and Lp(a) provides better stratification of 10-year incident CAD risk than LDL-C-based stratification in individuals with severe hypercholesterolemia.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Nuria Slijkhuis, Mark Towers, Mina Mirzaian, Suze-Anne Korteland, Bram Heijs, Kim van Gaalen, Ingeborg Nieuwenhuizen, Alex Nigg, Kim van der Heiden, Yolanda B. van der Rijke, Aad van der Lugt, Eric J. G. Sijbrands, Emmanuelle Claude, Gijs van Soest
Summary: This study used lipidomics and mass spectrometry imaging to investigate lipid signatures in advanced human carotid plaque and plasma samples. By comparing lipid species in plaque and plasma, the study identified specific lipid species that were associated with destabilization processes in plaque.
Article
Endocrinology & Metabolism
Elham Memarian, Ralph Heijmans, Roderick C. Slieker, Adriana Sierra, Olga Gornik, Joline W. J. Beulens, Maja Hanic, Petra Elders, Julio Pascual, Eric Sijbrands, Gordan Lauc, Viktoria Dotz, Clara Barrios, Leen M. 't Hart, Manfred Wuhrer, Mandy van Hoek
Summary: Inflammation plays an important role in the development of type 2 diabetes complications, and the N-glycosylation of IgG affects its role in inflammation. This study found that IgG N-glycosylation, particularly galactosylation and to a lesser extent sialylation, is associated with a higher prevalence and future development of macro- and microvascular complications of diabetes.
DIABETES-METABOLISM RESEARCH AND REVIEWS
(2023)
Article
Biochemistry & Molecular Biology
Annemieke Naber, Daniel Demus, Roderick Slieker, Simone Nicolardi, Joline W. J. Beulens, Petra J. M. Elders, Aloysius G. Lieverse, Eric J. G. Sijbrands, Leen M. 't Hart, Manfred Wuhrer, Mandy van Hoek
Summary: This study aimed to investigate the impact of apo-CIII glycosylation on lipid traits and type 2 diabetes prevalence. The researchers conducted a GWAS on different apo-CIII proteoforms and identified genetic loci associated with glycosylation and its relation to lipids and diabetes. The study confirmed the significant role of GALNT2 gene in apo-CIII O-glycosylation and its association with lipid parameters. Additionally, the IFT172/NRBP1 region was found to be involved in apo-CIII sialylation and hypertriglyceridemia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Sandra den Hoedt, Kristien Y. Dorst-Lagerwerf, Helga E. de Vries, Annemieke J. M. Rozemuller, Philip Scheltens, Jochen Walter, Eric J. G. Sijbrands, Pilar Martinez-Martinez, Adrie J. M. Verhoeven, Charlotte E. Teunissen, Monique T. Mulder
Summary: Alzheimer's disease (AD) patients show changes in cerebrospinal fluid (CSF) and plasma sphingolipids. The APOE4 genotype affects common sphingolipids in CSF and plasma of patients with early stages of AD.
JOURNAL OF ALZHEIMERS DISEASE REPORTS
(2023)
Letter
Medicine, General & Internal
Jasmin Barman-Aksozen, Janneke G. Langendonk
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Martijn P. D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C. G. J. Brouwers, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Alexander J. M. Rennings, Margreet A. E. M. Wagenmakers, Henkjan J. Verkade, Terry G. J. Derks, Vincent E. de Meijer
Summary: This study found that high serum triglyceride concentrations during childhood in patients with glycogen storage disease type Ia (GSDIa) were associated with an increased risk of hepatocellular adenoma (HCA) and earlier onset of HCA development, independent of sex-associated hypertriglyceridemia and G6PC1 genotype.