Download or read book Rare variants in the FBN1 gene are associated with sporadic dilated cardiomyopathy in a Chinese Han population written by Dongyang Wu and published by OAE Publishing Inc.. This book was released on 2023-06-25 with total page 13 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction: Dilated cardiomyopathy (DCM) represents a diverse set of myocardial diseases characterized by notable genetic heterogeneity. Although over 50 genes have been associated with DCM, these collectively explain 35% of idiopathic DCM cases. Variants in the FBN1 gene encoding fibrillin-1 are primarily linked to connective tissue disorders. Considering the potential of these disorders to impact myocardial tissue, this study probes into the possible association between FBN1 variants and DCM. Aim: The objective of this study was to investigate the association between FBN1 variants and DCM in a Chinese Han population. Methods and Results: We performed whole-exome sequencing (WES) to identify rare FBN1 variants among 1,059 DCM cases and 514 controls. Utilizing a case-control strategy and the optimal sequence kernel association test (SKAT-O), we found a significant enrichment of rare deleterious FBN1 variants in DCM patients (19 of 1,059 vs. 0 of 514, PSKAT-O = 7.49E-04). Clinical characteristics analysis indicated a higher occurrence of atrial fibrillation and a higher rate of implantable cardioverter-defibrillator (ICD) implantation among DCM patients carrying FBN1 variants (FBN1+) compared to non-carriers (FBN1-). However, these FBN1 variants did not significantly affect primary endpoints, defined as cardiac mortality or heart transplantation, yet appeared to increase the risk of secondary endpoints, including all-cause mortality or heart failure recurrence. Conclusion: The findings suggest an association between rare deleterious variants in the FBN1 gene and DCM in a Chinese Han population. Our findings underline the importance of further research to validate these results and elucidate the role of FBN1 in DCM. Potential Impact of the findings: This research provides fresh insights into the potential role of FBN1 rare variants in DCM, pointing to new directions for future genetic studies and potential therapeutic strategies in DCM management.
Download or read book Inherited Cardiac Disease written by Perry Elliott and published by Oxford University Press, USA. This book was released on 2011-05-26 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inherited Cardiac Disease provides healthcare specialists involved in the diagnosis and treatment of inherited cardiovascular disorders with a clinically relevant summary of genetic diseases and readily accessible information that can be used in everyday practice.
Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.
Download or read book Ehlers Danlos Syndrome A Multidisciplinary Approach written by J.W.G. Jacobs and published by IOS Press. This book was released on 2018-08-14 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.
Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.
Download or read book Aortopathy written by Koichiro Niwa and published by Springer. This book was released on 2017-02-09 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.
Download or read book Aneurysms Osteoarthritis Syndrome written by Denise van der Linde and published by Elsevier. This book was released on 2016-10-03 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care Contains clinical management guidance on optimal cardiovascular treatments and surgery Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features
Download or read book Essentials of Glycobiology written by Ajit Varki and published by CSHL Press. This book was released on 1999 with total page 694 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.
Download or read book Diseases of the Aorta written by Robert S. Dieter and published by Springer Nature. This book was released on 2019-08-27 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book examines various aspects of the aorta, both healthy and diseased states, in 40 chapters of in-depth research by experts in cardiovascular disease. It begins with chapters on the embryology, anatomy, genetics, and physiology of the aorta along with imaging studies used to visualize its structure. The bulk of the book focuses on acute and chronic disorders such as coarctation of the aorta, inflammatory and connective tissue disorders, acute aortic thrombosis, infections, tumors, related ocular diseases, and various aneurysms and fistulas. In addition, it explores aortic disease in pregnancy, fetal aortic disorders, and aortic trauma in children. The book highlights the epidemiology and natural history as well as medical, endovascular, and surgical treatments for each disease. It also discusses valve repair, 3D printing applications, and the role of multidisciplinary aortic centers. Diseases of the Aorta is an indispensable and authoritative resource for cardiologists, cardiovascular surgeons, interventional radiologists, radiologists, and vascular medicine specialists.
Download or read book CRISPR Cas Systems written by Rodolphe Barrangou and published by Springer Science & Business Media. This book was released on 2012-12-13 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: CRISPR/Cas is a recently described defense system that protects bacteria and archaea against invasion by mobile genetic elements such as viruses and plasmids. A wide spectrum of distinct CRISPR/Cas systems has been identified in at least half of the available prokaryotic genomes. On-going structural and functional analyses have resulted in a far greater insight into the functions and possible applications of these systems, although many secrets remain to be discovered. In this book, experts summarize the state of the art in this exciting field.
Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks
Download or read book Basketball Sports Medicine and Science written by Lior Laver and published by Springer Nature. This book was released on 2020-10-05 with total page 1018 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is designed as a comprehensive educational resource not only for basketball medical caregivers and scientists but for all basketball personnel. Written by a multidisciplinary team of leading experts in their fields, it provides information and guidance on injury prevention, injury management, and rehabilitation for physicians, physical therapists, athletic trainers, rehabilitation specialists, conditioning trainers, and coaches. All commonly encountered injuries and a variety of situations and scenarios specific to basketball are covered with the aid of more than 200 color photos and illustrations. Basketball Sports Medicine and Science is published in collaboration with ESSKA and will represent a superb, comprehensive educational resource. It is further hoped that the book will serve as a link between the different disciplines and modalities involved in basketball care, creating a common language and improving communication within the team staff and environment.
Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Download or read book Heart Development and Disease written by Benoit G. Bruneau and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: "Development of the heart is a complex process and can lead to serious congenital disease if the process goes awry. This book provides a detailed description of the cell lineages involved in heart development and how their migration and morphogenesis are controlled. It also examines the genetic and environmental bases for congenital heart disease and how model systems are revealing more about the processes involved"--
Download or read book Sudden Death in the Young written by Roger W. Byard and published by Cambridge University Press. This book was released on 2010-09-16 with total page 701 pages. Available in PDF, EPUB and Kindle. Book excerpt: Determining the cause of death in children and young adults can pose considerable challenges. Professor Byard provides for the first time a complete overview of pathological aspects of sudden death in the young, from before birth to middle adult life. Highly illustrated with more than 800 colour figures, this third edition contains new sections on sexual abuse, pregnancy-related deaths and rare natural diseases, as well as expanded coverage of unexpected death in young adults up to the age of 30 years. Chapters are organised by systems and cover all aspects of natural death, as well as accidents, suicides and homicides. Supported by extensive referencing and numerous tables, the book can also be used as a practical autopsy manual. An encyclopaedic overview and analysis of sudden death in the young, this is a key text for pediatric and forensic pathologists, pediatricians, and lawyers and physicians involved in medicolegal cases.
Download or read book Pathology of Childhood and Adolescence written by Consolato M. Sergi and published by Springer Nature. This book was released on 2020-10-28 with total page 1617 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers the full range of pathologic conditions encountered during childhood and youth, including tumors and tumor-like conditions of all organ systems, with direct links to developmental biology pathways and genetics. It provides a user-friendly road map to the main diagnostic criteria and combines an organ-related approach with an explanation of the diagnostic approaches to various specific diseases and syndromes, including sequential segmental analysis of congenital heart disease. More than 500 new full-color macro- and microphotographs using more than 500 multi-photographic panels are included to provide a realistic basis for comparison macroscopically and under the lens, and summarizing tables highlight key information in the concise form required for at-a-glance review. Pathologists will find the book very helpful when signing out complex and challenging cases, and it will also prove invaluable for exam preparation and continuing medical education.
Download or read book Pediatric Neurology written by Tena Rosser and published by Lippincott Williams & Wilkins. This book was released on 2007 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric Neurology for the Oral Boards: A Case-Based Review is the first pediatric neurology review book written specifically for neurology residents preparing for the oral boards. The book presents sixty cases with discussions structured according to the neurology oral boards format: localization of neurologic findings; differential diagnosis and most likely diagnosis; diagnostic workup; and patient management. The cases will help readers lay a foundation of knowledge in pediatric neurology and develop an organized approach to clinical decision-making. An introduction explains in detail what to expect on the examination and gives helpful hints on preparing for and taking the exam.
