Article
Biochemistry & Molecular Biology
Yunxiao Yang, Enzehua Xie, Yuhua Liu, Zhan Peng, Cuntao Yu, Kun Hua, Xiubin Yang
Summary: The study found that patients with Marfan syndrome (MFS) have elevated blood calcium levels and dyslipidemia. Increased calcium concentration is associated with promoted vascular smooth muscle cell (VSMC) phenotype switching in MFS. SERCA may become a novel therapeutic target for suppressing aneurysm progression in MFS.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Hematology
Albert J. Pedroza, Alex R. Dalal, Rohan Shad, Nobu Yokoyama, Ken Nakamura, Paul Cheng, Robert C. Wirka, Olivia Mitchel, Michael Baiocchi, William Hiesinger, Thomas Quertermous, Michael P. Fischbein
Summary: This study provides a detailed characterization of aortic root smooth muscle cells (SMCs) in Marfan syndrome (MFS), revealing the involvement of SMCs derived from both the second heart field (SHF) and neural crest in the formation of aortic root aneurysms. The study also highlights the subtly distinct transcriptional responses between these two lineages and suggests that TWIST1 may play a key role in the enriched collagen synthesis in SHF-derived SMCs in MFS.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2022)
Article
Clinical Neurology
Yuki Taniguchi, Yoshitaka Matsubayashi, So Kato, Toru Doi, Norifumi Takeda, Hiroki Yagi, Ryo Inuzuka, Yasushi Oshima, Sakae Tanaka
Summary: The study accurately showed the distribution of scoliosis severity in patients with Marfan syndrome and identified female sex and positive wrist sign as predictive factors for scoliosis progression in Marfan syndrome patients.
Article
Oncology
Yijing Zhou, Dongwei Guo, Qianzhong Cao, Xinyu Zhang, Guangming Jin, Danying Zheng
Summary: This study investigated the frequency of pathogenic FBN1 variants in twelve probands with isolated ectopia lentis (IEL) and identified seven pathogenic variants, expanding the understanding of the variant spectrum of the FBN1 gene and the molecular pathogenesis of IEL. High myopia was the most common feature among the probands. Three novel variants were discovered in this study, while four previously reported variants were also identified. The study highlights the importance of genetic testing in diagnosing and understanding IEL.
MOLECULAR MEDICINE REPORTS
(2021)
Article
Neurosciences
Ania M. Fiksinski, Carrie E. Bearden, Anne S. Bassett, Rene S. Kahn, Janneke R. Zinkstok, Stephen R. Hooper, Wanda Tempelaar, Donna McDonald-McGinn, Ann Swillen, Beverly Emanue, Bernice Morrow, Raquel Gur, Eva Chow, Marianne van den Bree, Joris Vermeesch, Stephen Warren, Michael Owen, Therese van Amelsvoor, Stephan Eliez, Doron Gothelf, Arango Celso, Wendy Kates, Tony Simon, Kieran Murphy, Gabriela Repetto, Damian Heine Sune, Stefano Vicar, Joseph Cubells, Marco Armando, Nicole Philip, Linda Campbell, Sixto Garcia-Minaur, Maude Schneider, Vandana Shashi, Jacob Vorstman, Elemi J. Breetvelt
Summary: Pathogenic genetic variants can impact cognitive development, and understanding variant-specific cognitive trajectories is important for identifying patients at risk for comorbid conditions. A study on individuals with 22q11.2 deletion syndrome (22q11DS) demonstrated that using variant-specific IQ-Z-scores resulted in a 30% decrease of required sample size compared to standard IQ-based approaches to detect the association between IQ decline and schizophrenia risk. This approach may facilitate a more clinically informative interpretation of IQ data by identifying individuals deviating from their expected cognitive trajectories.
NEUROPSYCHOPHARMACOLOGY
(2022)
Article
Genetics & Heredity
Yanireth Jimenez, Cesar Paulsen, Eduardo Turner, Sebastian Iturra, Oscar Cuevas, Guillermo Lay-son, Gabriela M. Repetto, Marcelo Rojas, Juan F. Calderon
Summary: Marfan Syndrome is a genetic disorder caused by variants in the FBN1 gene. It is characterized by ectopia lentis, musculoskeletal features, and aortic root aneurysm and dissection. Variants in other genes have been found to modify the severity of the cardiovascular symptoms in MFS patients. Further research is needed to understand the functional effects of these variants and develop personalized risk management and therapies.
Article
Food Science & Technology
Maya Stoyneva-Gartner, Katerina Stefanova, Blagoy Uzunov, Mariana Radkova, Georg Gaertner
Summary: This paper presents the first evidence that the planktonic cyanoprokaryote genus Cuspidothrix is a producer of anatoxin A (ATX) in Bulgarian wetlands. PCR results from two summer sampling campaigns in 26 selected lakes and reservoirs revealed the presence of the anaC gene responsible for ATX production in 21 strains of the genus. The genetic diversity detected was consistent with observations made using light microscopy, identifying three species of Cuspidothrix.
Article
Immunology
Levi-Dan Azoulay, Marc Pineton de Chambrun, Romaric Larcher, Frederic Pene, Laurent Argaud, Julien Mayaux, Matthieu Jamme, Remi Coudroy, Alexis Mathian, Aude Gibelin, Elie Azoulay, Yacine Tandjaoui-Lambiotte, Auguste Dargent, Francois Beloncle, Jean-Herle Raphalen, Antoine Troger, Nicolas de Prost, Jerome Devaquet, Damien Contou, Samuel Gaugain, Pierre Trouiller, Steven Grange, Stanislas Ledochowski, Jeremie Lemarie, Stanislas Faguer, Vincent Degos, Quentin Moyon, Charles-Edouard Luyt, Mathieu Kerneis, Alain Combes, Zahir Amoura
Summary: This study investigated the prevalence, characteristics, and prognosis of cardiac manifestations in critically-ill patients with thrombotic antiphospholipid syndrome (APS). The results showed that cardiac manifestations were common in these patients and may be associated with a more severe outcome.
JOURNAL OF AUTOIMMUNITY
(2022)
Article
Rheumatology
Lily Pollock, Ashley Ridout, James Teh, Colin Nnadi, Dionisios Stavroulias, Alex Pitcher, Edward Blair, Paul Wordsworth, Tonia L. Vincent
Summary: Marfan syndrome is a genetic disorder with ocular, cardiovascular, and musculoskeletal manifestations. Vascular complications pose the greatest threat, but effective management options have reduced risk. Musculoskeletal manifestations, although less attention has been given, can significantly impact quality of life and are crucial for diagnosis.
CURRENT RHEUMATOLOGY REPORTS
(2021)
Article
Horticulture
Daouda Coulibaly, Xiao Huang, Shi Ting, Shahid Iqbal, Zhaojun Ni, Kenneth Omondi Ouma, Faisal Hayat, Wei Tan, Guofeng Hu, Chengdong Ma, Benjamin Karikari, Mahmoud Magdy, Zhihong Gao
Summary: This study compared the agronomical and chloroplast genome characteristics of ten Japanese apricot accessions from three Chinese provinces, revealing significant differences in phenotype and genome composition among accessions from different provinces, leading to clustering based on geographic origin.
Article
Genetics & Heredity
Hiroshi Kurosaka, Sayuri Yamamoto, Kyoko Hirasawa, Tomoe Yanagishita, Kaoru Fujioka, Hideaki Yagasaki, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yoshihiro Asano, Namiki Nagata, Takayuki Tsujimoto, Toshihiro Inubushi, Toshiyuki Yamamoto, Norio Sakai, Takashi Yamashiro
Summary: Craniofacial defects are common in syndromic diseases, and dental anomalies, such as abnormal crown morphologies and pulp stones, are frequently observed in SATB2-associated syndrome (SAS). This report presents three genetically diagnosed SAS cases from Japan, highlighting the detailed craniofacial phenotypes and dental problems. These findings provide new insights for differentiating SAS from other disorders.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Oncology
Siba El Hussein, Sanam Loghavi
Summary: This review provides an overview of recent genomic findings in MDS and presents updated guidelines and emerging tools for improving diagnostic abilities. The limitations of current practices in disease follow-up are also discussed, emphasizing the need for enhanced prognostic tools in the future.
Article
Cardiac & Cardiovascular Systems
Nupoor Narula, Richard B. Devereux, Grace P. Malonga, Ingrid Hriljac, Mary J. Roman
Summary: The study found that there is an increased risk of aortic dissection during pregnancy in Marfan syndrome patients, especially in those unaware of their diagnosis. Additionally, most patients maintained stable aortic dimensions during pregnancy, leading to favorable pregnancy outcomes.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Review
Respiratory System
Mon Hnin Tun, Bryan Borg, Maurice Godfrey, Nancy Hadley-Miller, Edward D. Chan
Summary: Marfan syndrome is a connective tissue disorder with a prevalence rate of 1 in 10,000 to 15,000 individuals, causing abnormalities in the cardiovascular, skeletal, ocular, and respiratory systems. Mutations in the FBN1 gene can lead to a variety of respiratory complications, including chest wall deformities, emphysema, and sleep apnea. Further research is needed to prevent and manage these respiratory issues in individuals with Marfan syndrome.
JOURNAL OF THORACIC DISEASE
(2021)
Article
Cardiac & Cardiovascular Systems
Angela Lopez-Sainz, Laia Mila, Jose Rodriguez-Palomares, Javier Limeres, Chiara Granato, Lucia La Mura, Ana Sabate, Andrea Guala, Laura Gutierrez, Laura Galian-Gay, Augusto Sao-Aviles, Sergi Bellmunt, Rafael Rodriguez, Hug Cuellar-Calabria, Albert Roque, Ignacio Ferreira-Gonzalez, Artur Evangelista, Gisela Teixido-Tura
Summary: This study revealed that aortic branch aneurysms are present in approximately one-quarter of patients with MFS, are associated with patient age and aortic dilation, and independently predict the need for aortic surgery.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Jose E. Exaire, Timothy A. Mixon
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Giuseppe Di Gioia, Federica Coletti, Lorenzo Buzzelli, Viviana Maestrini, Sara Monosilio, Andrea Segreti, Maria Rosaria Squeo, Erika Lemme, Antonio Nenna, Antonio Pelliccia
Summary: Dyslipidemia is common in Paralympic athletes, with lipid levels influenced by the type of disability and sporting discipline.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Esra Donmez, Sevgi Ozcan, Irfan Sahin, Murat Ziyrek, Ertugrul Okuyan
Summary: This study aimed to evaluate the predictive value of the GRACE risk score in acute pulmonary embolism (PE) patients for 30-day mortality and the need for thrombolytic treatment. The study found that the GRACE risk score, along with the PESI score, were independent risk factors associated with 30-day mortality and the need for thrombolytic treatment. The GRACE risk score showed high sensitivity and specificity in predicting mortality, and its combination with the PESI score helped define high-risk PE patients and predict poor prognosis.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Tom Kai Ming Wang, Reza Reyaldeen, Kevser Akyuz, Zoran B. Popovic, A. Marc Gillinov, Bo Xu, Brian P. Griffin, Milind Y. Desai
Summary: Transthoracic echocardiography (TTE) is commonly used to evaluate isolated tricuspid regurgitation (TR), but there is limited research comparing its quantification with magnetic resonance imaging (MRI). In this study, a novel TTE algorithm was developed to identify severe TR based on TTE parameters. The algorithm had a higher accuracy than the current guidelines' criteria in detecting severe TR by MRI.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Editorial Material
Cardiac & Cardiovascular Systems
Enkhtsogt Sainbayar, Ramzi Ibrahim, Hoang Nhat Pham, Wisam Beauti, Mahek Shahid, Natalie Hickerson, Mohammed Salih, Joao Paulo Ferreira, Mamas A. Mamas
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Richard E. Casazza, Hymie Chera, Carlos Adolfo Rodriguez, Sergey Ayzenberg
Summary: This article presents a case of a patient with known situs inversus who underwent cardiac catheterization and was found to have chronic total occlusion in the right coronary artery. Situs inversus is a rare congenital abnormality characterized by the inverted position of chest and abdominal organs. Cardiac catheterization is uncommon in patients with this particular abnormality, highlighting the importance of customizing techniques to engage coronary arteries and optimize guide support for percutaneous coronary intervention if needed.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Editorial Material
Cardiac & Cardiovascular Systems
Georgiana Pintea Bentea, Brahim Berdaoui, Sophie Samyn, Marielle Morissens, Philippe van de Borne, Jose Castro Rodriguez
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Bulbul Ahmed, Melissa G. Farb, Shakun Karki, Sophia D'Alessandro, Niloo M. Edwards, Noyan Gokce
Summary: This study evaluated the angiogenic capacity of adipose tissue in patients undergoing cardiac surgeries and found that patients with coronary artery disease (CAD) had reduced angiogenic capacity in their pericardial adipose tissue. Gene expression analysis revealed upregulated expression of the anti-angiogenic gene TSP-1 in CAD patients, with no significant differences in other angiogenic factors. Additionally, inhibiting TSP-1 expression significantly improved angiogenic deficiency in CAD patients.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Moshe Rav-Acha, Orli Wube, Oholi Tovia Brodie, Yoav Michowitz, Michael Ilan, Tal Ovdat, Robert Klempfner, Mahmud Suleiman, Ilan Goldenberg, Michael Glikson
Summary: The current guidelines recommend prophylactic implantable cardioverter-defibrillator (ICD) for patients with symptomatic heart failure (HF) and low left ventricular ejection fraction. However, not all patients will benefit from ICD treatment. This study evaluated the feasibility of using the MADIT-II-based Risk Stratification Score (MRSS) to predict the survival benefit of prophylactic ICDs in patients with HF. The results showed that different risk subgroups had varying levels of ICD survival benefit.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Ariel Banai, Rachel Retsky, Lior Lupu, Erez Levi, David Zahler, Omri Feder, Roei Merin, Yan Topilsky, Raphael Rosso, Shmuel Banai, Sami Viskin, Ehud Chorin
Summary: This study aims to evaluate the association between electromechanical window (EMW) and ventricular tachyarrhythmias in patients with Takotsubo syndrome (TTS). The study found that TTS patients had a lower EMW value, which was associated with an increased risk of ventricular tachyarrhythmias.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Harun Kundi, Kobina Hagan, Tamer Yahya, Garima Sharma, Sadeer Al-Kindi, Zulqarnain Javed, Khurram Nasir
Summary: Using latent class analysis (LCA), the study identified clinical, demographic, and social subphenotypes in ASCVD population and assessed the risk of all-cause and cardiovascular mortality across different socioclinical classes. The results showed that the younger, female, non-Hispanic Black or Hispanic individuals with a high burden of co-morbidities and unfavorable social determinants of health had the highest risk of mortality in the identified latent classes.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Moises A. Vasquez, Mina Iskander, Mohammed Mustafa, Juan A. Quintero-Martinez, Antonio Luna, Joel Mintz, Jose Noy, Juan Uribe, Ivan Mijares, Eduardo de Marchena, Yiannis S. Chatzizisis
Summary: The benefits of pericardiocentesis (PC) in patients with pulmonary hypertension (PH) and pericardial effusions are unclear. The study found that PC in PH patients is associated with higher in-hospital mortality and rates of cardiovascular complications.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Ken Kuwajima, Mana Ogawa, Irving Ruiz, Hiroko Hasegawa, Nobuichiro Yagi, Florian Rader, Robert J. Siegel, Takahiro Shiota
Summary: After cardiac surgery, the longitudinal function of the right ventricle and left ventricle is reduced, despite preserved global functions. In particular, tricuspid annular plane systolic excursion (TAPSE) remains decreased after surgery.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Min -Jung Kim, Robert H. Aseltine Jr, Sara R. Tabtabai
Summary: This study evaluated the rates and causes of 30-day readmissions after discharge for heart failure (HF) as a primary and secondary diagnosis. The findings indicate that efforts to reduce readmission rates should include patients with secondary HF diagnosis, and surveillance should extend to 2 weeks postdischarge to identify at-risk patients.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)
Article
Cardiac & Cardiovascular Systems
Ya He, Jianzhong Zhou
Summary: This study aimed to examine the relation between reverse septal curvature (RSC) and nonsustained ventricular tachycardia (NSVT) in patients with hypertrophic cardiomyopathy (HCM). The study found that patients with RSC were younger and had a higher incidence of NSVT, and RSC was identified as a strong independent risk factor for NSVT.
AMERICAN JOURNAL OF CARDIOLOGY
(2024)