Review
Biochemistry & Molecular Biology
Juan Pedro-Botet, Elisenda Climent, David Benaiges
Summary: CVD in HeFH is driven by LDL cholesterol concentrations, but other classical risk factors also contribute to the high cardiovascular risk. Alterations in the phenotype and functionality of HDL particles in HeFH patients are also associated with the presence and severity of CVD.
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
Laura D'Erasmo, Ilenia Minicocci, Alessia Di Costanzo, Giovanni Pigna, Daniela Commodari, Fabrizio Ceci, Anna Montali, Francesca Brancato, Ilaria Stanca, Antonio Nicolucci, Andrea Ascione, Nicola Galea, Iacopo Carbone, Marco Francone, Marianna Maranghi, Marcello Arca
Summary: Familial hypercholesterolemia (FH) may be caused by deleterious monogenic variants or polygenic causes. Research shows that patients with monogenic FH have poorer response to lipid-lowering therapy, increased burden of coronary artery calcification, and higher risk for atherosclerotic-related events compared to those with polygenic or genetically undetermined FH. Genetic testing is helpful in providing important prognostic information.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Hematology
Eythor Bjornsson, Gudmundur Thorgeirsson, Anna Helgadottir, Gudmar Thorleifsson, Gardar Sveinbjornsson, Snaedis Kristmundsdottir, Hakon Jonsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Thorarinn Gudnason, Isleifur Olafsson, Emil L. Sigurdsson, Olof Sigurdardottir, Brynjar Vidarsson, Magnus Baldvinsson, Ragnar Bjarnason, Ragnar Danielsen, Stefan E. Matthiasson, Bjorn L. Thorarinsson, Solveig Gretarsdottir, Valgerdur Steinthorsdottir, Bjarni Halldorsson, Karl Andersen, David O. Arnar, Ingileif Jonsdottir, Daniel F. Gudbjartsson, Hilma Holm, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
Summary: The study found that clinically defined familial hypercholesterolemia is a relatively common phenotype, but only a minority of cases are explained by monogenic FH. Both individuals with monogenic FH and individuals with mutation-negative clinical FH are markedly undertreated, with only a minority achieving the recommended LDL-C target levels.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
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
Haoyu Wu, Vincenzo Forgetta, Sirui Zhou, Sahir R. Bhatnagar, Guillaume Pare, J. Brent Richards
Summary: The study suggests that an LDL-C PRS can be utilized to identify individuals with FH variants, and the association between ischemic heart disease and the LDL-C PRS is similar to that of measured LDL-C, likely due to the PRS reflecting lifetime exposure to LDL-C levels.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Genetics & Heredity
Wen-Jane Lee, Han-Ni Chuang, Yi-Ming Chen, Kae-Woei Liang, Hsin Tung, Jun-Peng Chen, I-Te Lee, Jun-Sing Wang, Ching-Heng Lin, Hsueh-Ju Lin, Wayne Huey-Herng Sheu, Wen-Lieng Lee, Tzu-Hung Hsiao
Summary: The study found that individuals with FH genetic variations who underwent coronary angiography had a significantly higher risk of CAD and early CAD, despite similar LDL cholesterol levels. Additionally, FH genetic variation carriers underwent more revascularization procedures after a mean follow-up of 6.1 years.
Article
Cardiac & Cardiovascular Systems
Davide Noto, Rossella Spina, Antonina Giammanco, Carlo M. Barbagallo, Antonina Ganci, Chiara Scrimali, Federica Brucato, Gabriella Misiano, Marcello Ciaccio, Rosalia Caldarella, Angelo B. Cefalu, Maurizio Averna
Summary: This study described the characteristics of FH patients in a large cohort and evaluated the performance of the DLCN score in a retrospective case study. The results showed that gene variant carriers had higher LDL-C levels and DLCN scores, lower HDL-C levels, and a higher prevalence of cardiovascular events and atherosclerotic plaques compared to non-carriers. Additionally, LDL-C levels were found to be more predictive of FH gene variants than the DLCN score.
Article
Biochemistry & Molecular Biology
Kasper Aalbaek Kjaergaard, Sixten Harborg, Henrik Kjaerulf Jensen, Signe Borgquist
Summary: The study found that in Denmark, LDLR mutation-carrying HeFH relatives did not have a different cancer risk compared to the general population. Conversely, nonmutation-carrying relatives had a lower risk of cancer. The risk was increased among mutation-carrying HeFH relatives compared to nonmutation-carrying relatives.
LIPIDS IN HEALTH AND DISEASE
(2022)
Article
Cardiac & Cardiovascular Systems
Antonio Gallo, Leopoldo Perez de Isla, Sybil Charriere, Alexandre Vimont, Rodrigo Alonso, Ovidio Muniz-Grijalvo, Jose L. Diaz-Diaz, Daniel Zambon, Philippe Moulin, Eric Bruckert, Pedro Mata, Sophie Beliard
Summary: The study demonstrated the additional contribution of coronary artery calcium (CAC) score in improving cardiovascular risk stratification and ASCVD prediction in patients with statin-treated HeFH.
JACC-CARDIOVASCULAR IMAGING
(2021)
Article
Public, Environmental & Occupational Health
Eirini Trichia, Debbie E. Malden, Danyao Jin, Neil Wright, Hannah Taylor, Fredrik Karpe, Paul Sherliker, Federico Murgia, Jemma C. Hopewell, Ben Lacey, Jonathan Emberson, Derrick Bennett, Sarah Lewington
Summary: Body fat distribution measures, except for hip circumference (HC), showed similar associations with coronary heart disease (CHD) risk. Different measures of body fat distribution likely influence CHD risk through both overlapping and independent mechanisms.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Diana N. Vikulova, Mark Trinder, G. B. John Mancini, Simon N. Pimstone, Liam R. Brunham
Summary: This study assessed the prevalence of FH, FCHL, and elevated Lp(a) in patients with premature CAD and their impact on treatment and achievement of lipid targets. The results showed that these conditions are common in patients with premature CAD and have differing impacts on individualized management and achievement of lipid targets.
CANADIAN JOURNAL OF CARDIOLOGY
(2021)
Article
Medicine, General & Internal
Samet Yaman, Didem Ozdemir, Busra Tugce Akman, Bekir Cakir, Osman Ersoy
Summary: This study investigated the treatment status and compliance of patients with LDL-C >= 250 mg/dL and FH, revealing a significant portion of patients not taking lipid-lowering drugs. Diagnosis and treatment rates of FH patients were found to be very low, indicating a need for further national studies to increase disease awareness among both physicians and patients.
POSTGRADUATE MEDICINE
(2021)
Article
Health Care Sciences & Services
Matthew Jones, Ralph K. Akyea, Katherine Payne, Steve E. Humphries, Hasidah Abdul-Hamid, Stephen Weng, Nadeem Qureshi
Summary: This study determines the cost-effectiveness of six case-finding strategies for screening of electronic health records to identify index patients who have genetically confirmed monogenic FH in English primary care. FAMCAT2 was found to be the most cost-effective screening approach.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Medicine, General & Internal
Hayato Tada, Hidehiro Kaneko, Yuta Suzuki, Akira Okada, Norifumi Takeda, Katsuhito Fujiu, Hiroyuki Morita, Junya Ako, Koichi Node, Yasuaki Takeji, Masayuki Takamura, Hideo Yasunaga, Issei Komuro
Summary: This study found a prevalence of 0.29% for FH in the general population. In addition to being associated with composite outcomes of cardiovascular disease, FH was also significantly associated with heart failure and atrial fibrillation.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Cardiac & Cardiovascular Systems
D. M. Oosterveer, M. de Visser, C. Heringhaus
Summary: A study on a text message alert system for volunteers found that the system contributed to early cardiopulmonary resuscitation and increased use of automated external defibrillators (AEDs) for out-of-hospital cardiac arrest patients. However, it did not improve the 3-month and 1-year survival rates.
NETHERLANDS HEART JOURNAL
(2023)
Article
Dermatology
Vladica M. Velickovic, Tim Spelman, Michael Clark, Sebastian Probst, David G. Armstrong, Ewout Steyerberg
Summary: This review discusses the development of risk prediction tools for chronic wounds and highlights the importance and challenges of regression-based and machine learning methods. Machine learning may be a powerful adjunct for handling complex risk factors in wound healing.
ADVANCES IN WOUND CARE
(2023)
Article
Medicine, General & Internal
David J. McLernon, Daniele Giardiello, Ben Van Calster, Laure Wynants, Nan van Geloven, Maarten van Smeden, Terry Therneau, Ewout W. Steyerberg, STRATOS Initiative
Summary: Risk prediction models need validation to assess their performance. This article focuses on evaluating predictions and improving clinical decision making using survival models based on Cox proportional hazards regression. The authors present a case study on breast cancer patients, where a Cox regression model is developed and validated for prediction of recurrence or death.
ANNALS OF INTERNAL MEDICINE
(2023)
Article
Critical Care Medicine
Anne A. H. de Hond, Ilse M. J. Kant, Mattia Fornasa, Giovanni Cina, Paul W. G. Elbers, Patrick J. J. Thoral, M. Sesmu Arbous, Ewout W. W. Steyerberg
Summary: This study aimed to assess the performance of a decision support tool based on a machine learning model in predicting readmission or death within 7 days after ICU discharge. Through independent validation and retraining on multiple datasets, it was found that the model performed well in new settings and can be considered as an effective clinical tool.
CRITICAL CARE MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Carlijn A. M. Roumans, Ruben D. van der Bogt, Daan Nieboer, Ewout W. Steyerberg, Dimitris Rizopoulos, Iris Lansdorp-Vogelaar, Katharina Biermann, Marco J. Bruno, Manon C. W. Spaander
Summary: In this multicenter prospective cohort study, it was found that half of Barrett's esophagus (BE) surveillance endoscopies do not adhere to guideline recommendations. However, there was no clear association between nonadherence and endoscopic curability of esophageal adenocarcinoma (EAC) or mortality, indicating the need for optimization of BE surveillance guidelines to minimize the burden of endoscopies.
DISEASES OF THE ESOPHAGUS
(2023)
Article
Cardiac & Cardiovascular Systems
Steele C. Butcher, Benjamin Essayagh, Ewout W. Steyerberg, Giovanni Benfari, Clemence Antoine, Francesco Grigioni, Thierry Le Tourneau, Jean-Christian Roussel, Aniek van Wijngaarden, Nina Ajmone Marsan, Christophe Tribouilloy, Dan Rusinaru, Aviram Hochstadt, Yan Topilsky, Hector Michelena, Victoria Delgado, Jeroen J. Bax, Maurice Enriquez-Sarano
Summary: This study examined the impact of secondary outcome determinants on post-operative survival in patients with degenerative mitral regurgitation (DMR) and found that the number of these determinants was independently associated with increased mortality after surgery, providing better outcome discrimination than traditional indications for surgery.
EUROPEAN HEART JOURNAL
(2023)
Review
Health Care Sciences & Services
Mohammed T. Hudda, Lucinda Archer, Maarten van Smeden, Karel G. M. Moons, Gary S. Collins, Ewout W. Steyerberg, Charlotte Wahlich, Johannes B. Reitsma, Richard D. Riley, Ben Van Calster, Laure Wynants
Summary: The study aims to assess the improvement in reporting completeness of COVID-19 prediction models after peer review. The findings suggest that the reporting quality of preprints is poor and did not improve significantly after peer review, indicating that peer review had minimal effect on the completeness of reporting during the COVID-19 pandemic.
JOURNAL OF CLINICAL EPIDEMIOLOGY
(2023)
Correction
Critical Care Medicine
Emanuele Rezoagli, Matteo Petrosino, Paola Rebora, David Menon, Stefania Mondello, D. James Cooper, Andrew I. R. Maas, Eveline J. A. Wiegers, Stefania Galimberti, Giuseppe Citerio, Cecilia Ackerlund, Krisztina Amrein, Nada Andelic, Lasse Andreassen, Audny Anke, Gerard Audibert, Philippe Azouvi, Maria Luisa Azzolini, Ronald Bartels, Ronny Beer, Bo-Michael Bellander, Habib Benali, Maurizio Berardino, Luigi Beretta, Erta Beqiri, Morten Blaabjerg, Stine Borgen Lund, Camilla Brorsson, Andras M. Buki, Manuel Cabeleira, Alessio Caccioppola, Emiliana Calappi, Maria Rosa Calvi, Peter Cameron, Guillermo Carbayo Lozano, Marco Carbonara, Ana D. Castano-Leon, Simona Cavallo, Giorgio Chevallard, Arturo Chieregato, Hans Clusmann, Mark Steven Coburn, Jonathan Coles, Jamie Cooper, Marta Correia, Endre Czeiter, Marek Czosnyka, Claire Dahyot-Fizelier, Paul Dark, Veronique Keyser, Vincent Degos, Francesco Della Corte, Hugo Boogert, Bart Depreitere, Dula Dilvesi, Abhishek Dixit, Jens Dreier, Guy-Loup Duliere, Ari Ercole, Erzsebet Ezer, Martin Fabricius, Kelly Foks, Shirin A. Frisvold, Alex Furmanov, Damien Galanaud, Dashiell Gantner, Alexandre Ghuysen, Lelde Giga, Jagos Golubovic, Pedro Gomez, Benjamin J. Gravesteijn, Francesca Grossi, Deepak Gupta, Iain Haitsma, Raimund G. Helbok, Eirik Helseth, Jilske Huijben, Peter Hutchinson, Stefan Jankowski, Faye Johnson, Mladen Karan, Angelos Kolias, Daniel Kondziella, Evgenios Kornaropoulos, Lars-Owe Koskinen, Noemi Kovacs, Ana Kowark, Alfonso Lagares, Steven Laureys, Aurelie Lejeune, Fiona Lecky, Didier Ledoux, Roger Lightfoot, Hester Lingsma, Alex Manara, Hugues Marechal, Costanza Martino, Julia Mattern, Catherine McMahon, Tomas Menovsky, Benoit Misset, Visakh Muraleedharan, Lynnette Murray, Ancuta Negru, David Nelson, Virginia Newcombe, Jozsef Nyiradi, Fabrizio Ortolano, Jean-Francois Payen, Vincent Perlbarg, Paolo P. Persona, Wilco Peul, Anna Piippo-Karjalainen, Horia Ples, Inigo Pomposo, Jussi Posti, Louis Puybasset, Andreea Radoi, Arminas Ragauskas, Rahul Raj, Jonathan Rhodes, Sophie Richter, Saulius Rocka, Cecilie Roe, Olav Roise, Jeffrey Rosenfeld, Christina Rosenlund, Guy Rosenthal, Rolf Rossaint, Sandra Rossi, Juan Sahuquillo, Oliver Sakowitz, Renan Sanchez-Porras, Oddrun Sandrod, Kari Schirmer-Mikalsen, Rico Frederik W. Schou, Charlie Sewalt, Peter Smielewski, Abayomi Sorinola, Emmanuel Stamatakis, Ewout Steyerberg, Nino Stocchetti, Nina Sundstroem, Riikka Takala, Viktoria Tamas, Tomas Tamosuitis, Olli Tenovuo, Matt Thomas, Dick Tibboel, Christos Tolias, Tony Trapani, Cristina Maria Tudora, Andreas Unterberg, Peter Vajkoczy, Egils A. Valeinis, Shirley Vallance, Zoltan Vamos, Gregory Steen, T. J. M. van Dijck Jeroen, Thomas Essen, Roel Wijk, Alessia Vargiolu, Emmanuel Vega, Anne Vik, Rimantas Vilcinis, Victor Volovici, Peter Vulekovic, Eveline A. Wiegers, Guy Williams, Stefan Winzeck, Stefan Wolf, Alexander Younsi, Frederick Zeiler, Agate Ziverte, Tommaso V. Zoerle, Russel Gruen, Lynette Murray, Dinesh Varma, Christopher MacIsaac, Andrea Jordan
INTENSIVE CARE MEDICINE
(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
Mathematical & Computational Biology
Doranne Thomassen, Ewout Steyerberg, Saskia le Cessie
Summary: In clinical practice, it is crucial to determine the absolute risk reduction of treatment for individual patients. However, logistic regression in trials with binary outcomes provides estimates of treatment effects in terms of log odds differences. In this study, we propose a new Bayesian regression model for binary outcomes on the additive risk scale, allowing for direct estimation of treatment effects on the linear scale of clinical interest. Comparisons were made with a previously proposed additive risk model and backtransforming predictions from a logistic model. Results showed that modelling untransformed risk can yield significantly different treatment effect estimates, particularly for small sample sizes or extreme predicted risks close to 0% or 100%. Our proposed model proved to be more sensitive in detecting all information in the data in a network meta-analysis.
STATISTICS IN MEDICINE
(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)