Article
Cardiac & Cardiovascular Systems
Onur B. Dolmaci, Tugay Ayyildiz, Robert E. Poelmann, Antoine H. G. Driessen, Dave R. Koolbergen, Robert J. M. Klautz, Jan H. N. Lindeman, Nimrat Grewal
Summary: Marfan syndrome and bicuspid aortic valve patients have a significantly lower risk for and prevalence of coronary artery disease compared to tricuspid aortic valve individuals.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Seyedeh Maryam Zekavat, Elizabeth L. Chou, Melica Zekavat, Akhil Pampana, Kaavya Paruchuri, Christian Lacks Lino Cardenas, Satoshi Koyama, Yousef Ghazzawi, Erina Kii, Md Mesbah Uddin, James Pirruccello, Hongyu Zhao, Malissa Wood, Pradeep Natarajan, Mark E. Lindsay
Summary: Whole-exome sequencing identified rare disruptive variants in collagen genes in individuals with spontaneous coronary artery dissection (SCAD). These findings suggest a role of extracellular matrix dysfunction in the development of SCAD.
Article
Genetics & Heredity
Xiaojie Yue, Xiong Zhao, Yefeng Dai, Lan Yu
Summary: LEOPARD syndrome is caused by a germline PTPN11 mutation, presenting with multisystem anomalies and variable clinical features. Diagnosis is challenging due to symptom overlap with other similar conditions. Early diagnosis of LEOPARD syndrome can help patients understand the disease risks, complications, and prognosis, allowing for appropriate preventive measures.
Review
Pediatrics
Xiujun Tang, Zheng Chen, Xiaoxia Shen, Tian Xie, Xiaohong Wang, Taixiang Liu, Xiaolu Ma
Summary: Noonan syndrome is a relatively rare inherited disease with significant individual variations in initial presentation. Thrombocytopenia can be the first symptom of NS, and should be considered as a working diagnosis after ruling out other common causes.
Article
Cardiac & Cardiovascular Systems
Fernando Alfonso, Cristina Fernandez-Perez, Nayade del Prado, Marcos Garcia-Guimaraes, Jose Luis Bernal, Teresa Bastante, David del Val, Nicolas Rosillo, Javier Elola
Summary: This study compared in-hospital mortality and 30-day readmission rates between patients with spontaneous coronary artery dissection (SCAD) and ST-segment elevation myocardial infarction (STEMI) treated with primary percutaneous coronary intervention (PPCI) and patients with STEMI without SCAD undergoing PPCI. The results showed that PPCI, when indicated in patients with STEMI and SCAD, has similar in-hospital mortality and 30-day readmission rates compared with PPCI for atherothrombotic STEMI. These findings support the value of PPCI in selected patients with SCAD.
JACC-CARDIOVASCULAR INTERVENTIONS
(2023)
Article
Genetics & Heredity
Xionghui Wu, Min Huang, Weiqing Huang, Sijun Zhao, Jiang Xie, Guangliang Liu, Shuting Chang
Summary: This paper studied the diagnosis and gene function of deafness caused by PTPN11 gene mutation syndrome using deep learning technology, and drew a feasible conclusion. It provided a theoretical and practical basis for the diagnosis of deafness caused by PTPN11 gene mutation syndrome and the study of gene function. The retrospective analysis of clinical data of deaf children also provided insights on the relationship between age, gender, and comprehensive deafness. The study of PTPN11 gene mutation syndrome deafness is also of great significance in genetics.
FRONTIERS IN GENETICS
(2023)
Review
Medicine, General & Internal
Rasha Kaddoura, Fathima Aaysha Cader, Ashraf Ahmed, Mirvat Alasnag
Summary: The prevalence of spontaneous coronary artery dissection (SCAD) has increased in young adults presenting with acute coronary syndrome. Although diagnostic tools have improved, prognosis and overall outcomes remain poor. More women are affected by SCAD, and it is underdiagnosed in many parts of the world, making it a persistent clinical challenge. Supportive treatment is the main management approach, with limited and controversial role for percutaneous or surgical interventions.
POSTGRADUATE MEDICAL JOURNAL
(2023)
Article
Medicine, Research & Experimental
S. Petteri Kauhanen, Timo Liimatainen, Miika Korhonen, Johannes Parkkonen, Juska Vienonen, Ritva Vanninen, Marja Hedman
Summary: The prevalence of mPA dilatation is high in a CCTA patient population when using a cut-off value from the Framingham Heart Study, with variations in prevalence observed depending on different reference values.
Review
Hematology
Ravi Choxi, Kunal Kapoor, Nigel Mackman, Ion S. Jovin
Summary: Coronary artery disease is a significant global cause of mortality and morbidity. Direct oral anticoagulants have shown potential in the treatment of coronary artery disease, but further research is needed to determine optimal treatment strategies.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Daphne Merkus, Judy Muller-Delp, Cristine L. Heaps
Summary: Recent studies have shown that epicardial stenosis and microvascular dysfunction both contribute to myocardial ischemia, impacting the structure and function of the distal microcirculation. Risk factors such as diabetes, metabolic syndrome, and aging exacerbate microvascular dysfunction in the myocardium distal to a stenosis. Exercise training promotes collateral growth and improves microvascular function distal to stenosis, with potential beneficial effects on the ischemic myocardium.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Deevia Kotecha, Marcos Garcia-Guimaraes, Diluka Premawardhana, Dario Pellegrini, Clare Oliver-Williams, Vasiliki Bountziouka, Alice Wood, Nalin Natarajan, Robert Jackson, Nathan Chan, Jan Ziaullah, Roby D. Rakhit, Stephen P. Hoole, Tom W. Johnson, Jacek Kadziela, Peter Ludman, Nilesh J. Samani, Angela H. E. M. Maas, Robert-Jan van Geuns, Fernando Alfonso, David Adlam
Summary: This study investigated the practice of PCI in SCAD patients and found that despite the higher risk associated with PCI in these patients, it can lead to improvements in coronary flow and positive long-term outcomes.
Editorial Material
Medicine, General & Internal
Marco Loffi, Gian B. Danzi
Summary: A 64-year-old woman presented with chest pain at rest and with exertion. Coronary angiography revealed an isolated coronary artery, as seen in a video.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Endocrinology & Metabolism
Federica Tamburrino, Laura Mazzanti, Emanuela Scarano, Dino Gibertoni, Maria Sirolli, Maximiliano Zioutas, Concetta Schiavariello, Annamaria Perri, Alessio Mantovani, Cesare Rossi, Marco Tartaglia, Andrea Pession
Summary: This study evaluated the body composition and lipid profiles of 93 patients with RASopathy and found an unfavorable lipid profile in these patients. Specifically, PTPN11 mutated patients and NS/LAH patients had significantly reduced total cholesterol levels, with HDL levels below the age and sex-matched general population. In addition, triglyceride levels in NS females increased with age.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Pediatrics
Jinwoon Joung, Jun Suk Oh, Jung Min Yoon, Kyung Ok Ko, Gyeong Hee Yoo, Eun Jung Cheon
Summary: This study developed a new algorithm using decision tree models to predict intravenous immunoglobulin (IVIG) resistance and coronary artery involvement in Kawasaki disease (KD). The study analyzed medical records of hospitalized children with KD and compared the clinical characteristics and laboratory data between groups with IVIG resistance and coronary artery dilatations (CADs). The decision tree models showed high accuracy in predicting IVIG resistance and CADs.
Article
Clinical Neurology
Alessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, Edmar Zanoteli, Andreas Roos, Ulrike Schara-Schmidt, Andreas Hentschel, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Kiran Polavarapu, Hanns Lochmueller
Summary: The RASopathies are a group of rare genetic diseases caused by mutations in genes involved in the RAS/MAPK pathway. PTPN11 pathogenic variants are associated with Noonan syndrome (NS) and Leopard syndrome (LPRD1), which share some clinical features. Recent studies have shown that patients with these syndromes also have motor impairment and decreased muscle strength. The exact cause of muscle involvement is still unclear, but the RAS/MAPK pathway is known to play a role in skeletal muscle development and neuromuscular junction function. Therefore, NS or LPDR1 should be considered in children with suspected congenital myasthenic syndrome (CMS) but no known CMS gene mutations, or additional symptoms indicative of NS.
JOURNAL OF NEUROLOGY
(2023)
Article
Cell Biology
Jennifer L. Philip, Md Abdur Razzaque, Mei Han, Jinju Li, Tiju Theccanat, Xianyao Xu, Shahab A. Akhter
DISEASE MODELS & MECHANISMS
(2015)
Article
Cardiac & Cardiovascular Systems
Xianyao Xu, Jennifer L. Philip, Md. Abdur Razzaque, James W. Lloyd, Charlie M. Muller, Shahab A. Akhter
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2015)
Article
Cell Biology
Tiju Theccanat, Jennifer L. Philip, Abdur M. Razzaque, Nicholas Ludmer, Jinju Li, Xianyao Xu, Shahab A. Akhter
CELLULAR SIGNALLING
(2016)
Article
Surgery
Md Abdur Razzaque, Xianyao Xu, Mei Han, Abbas Badami, Shahab A. Akhter
JOURNAL OF SURGICAL RESEARCH
(2018)
Article
Genetics & Heredity
Md. Abdur Razzaque, Yuta Komoike, Tsutomu Nishizawa, Kei Inai, Michiko Furutani, Toru Higashinakagawa, Rumiko Matsuoka
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2012)
Article
Cardiac & Cardiovascular Systems
Danielle Gottlieb Sen, Arda Halu, Abdur Razzaque, Joshua M. Gorham, Jessica Hartnett, Jonathan G. Seidman, Elena Aikawa, Christine E. Seidman
ANNALS OF THORACIC SURGERY
(2018)
Article
Cardiac & Cardiovascular Systems
Md. Abdur Razzaque, Manish Gupta, Hanna Osinska, James Gulick, Burns C. Blaxall, Jeffrey Robbins
CIRCULATION RESEARCH
(2013)
Article
Genetics & Heredity
Perundurai S. Dhandapany, Md Abdur Razzaque, Uthiralingam Muthusami, Sreejith Kunnoth, Jonathan J. Edwards, Sonia Mulero-Navarro, Ilan Riess, Sherly Pardo, Jipo Sheng, Deepa Selvi Rani, Bindu Rani, Periyasamy Govindaraj, Elisabetta Flex, Tomohiro Yokota, Michiko Furutani, Tsutomu Nishizawa, Toshio Nakanishi, Jeffrey Robbins, Giuseppe Limongelli, Roger J. Hajjar, Djamel Lebeche, Ajay Bahl, Madhu Khullar, Andiappan Rathinavel, Kirsten C. Sadler, Marco Tartaglia, Rumiko Matsuoka, Kumarasamy Thangaraj, Bruce D. Gelb
Article
Multidisciplinary Sciences
Jennifer L. Philip, Xianyao Xu, Mei Han, Shahab A. Akhter, Abdur Razzaque
Article
Genetics & Heredity
M. Abdur Razzaque, Tsutomu Nishizawa, Yuta Komoike, Hisato Yagi, Michiko Furutani, Ryunosuke Amo, Mitsuhiro Kamisago, Kazuo Momma, Hiroshi Katayama, Masao Nakagawa, Yuko Fujiwara, Masaki Matsushima, Katsumi Mizuno, Mika Tokuyama, Hamao Hirota, Jun Muneuchi, Toru Higashinakagawa, Rumiko Matsuoka
Article
Genetics & Heredity
MA Razzaque, N Masuda, Y Maeda, Y Endo, T Tsukamoto, T Osumi