Rare Variants In The Fbn1 Gene Are Associated With Sporadic Dilated Cardiomyopathy In A Chinese Han Population

Download Rare Variants In The Fbn1 Gene Are Associated With Sporadic Dilated Cardiomyopathy In A Chinese Han Population full books in PDF, epub, and Kindle. Read online Rare Variants In The Fbn1 Gene Are Associated With Sporadic Dilated Cardiomyopathy In A Chinese Han Population ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Rare variants in the FBN1 gene are associated with sporadic dilated cardiomyopathy in a Chinese Han population

Author : Dongyang Wu
Publisher : OAE Publishing Inc.
ISBN 13 :
Total Pages : 13 pages
Book Rating : 4./5 ( download)

DOWNLOAD NOW!

Book Synopsis Rare variants in the FBN1 gene are associated with sporadic dilated cardiomyopathy in a Chinese Han population by : Dongyang Wu

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.

Inherited Cardiac Disease

Author : Perry Elliott
Publisher : Oxford University Press, USA
ISBN 13 : 0199559686
Total Pages : 424 pages
Book Rating : 4.1/5 (995 download)

DOWNLOAD NOW!

Book Synopsis Inherited Cardiac Disease by : Perry Elliott

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.

Atlas of Genodermatoses

Author : Ruggero Caputo
Publisher : CRC Press
ISBN 13 : 1841842516
Total Pages : 448 pages
Book Rating : 4.8/5 (418 download)

DOWNLOAD NOW!

Book Synopsis Atlas of Genodermatoses by : Ruggero Caputo

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.

Aortopathy

Author : Koichiro Niwa
Publisher : Springer
ISBN 13 : 4431560718
Total Pages : 327 pages
Book Rating : 4.4/5 (315 download)

DOWNLOAD NOW!

Book Synopsis Aortopathy by : Koichiro Niwa

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.

Stroke Genetics

Author : Hugh S. Markus
Publisher :
ISBN 13 : 0198515863
Total Pages : 362 pages
Book Rating : 4.1/5 (985 download)

DOWNLOAD NOW!

Book Synopsis Stroke Genetics by : Hugh S. Markus

Download or read book Stroke Genetics written by Hugh S. Markus and published by . This book was released on 2003 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. An increasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke. Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemic stroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence is reviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing a practical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.

Diseases of the Aorta

Author : Robert S. Dieter
Publisher : Springer Nature
ISBN 13 : 3030113221
Total Pages : 486 pages
Book Rating : 4.0/5 (31 download)

DOWNLOAD NOW!

Book Synopsis Diseases of the Aorta by : Robert S. Dieter

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 486 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.

Sudden Death in the Young

Author : Roger W. Byard
Publisher : Cambridge University Press
ISBN 13 : 1139855514
Total Pages : 701 pages
Book Rating : 4.1/5 (398 download)

DOWNLOAD NOW!

Book Synopsis Sudden Death in the Young by : Roger W. Byard

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.

CRISPR-Cas Systems

Author : Rodolphe Barrangou
Publisher : Springer Science & Business Media
ISBN 13 : 364234657X
Total Pages : 300 pages
Book Rating : 4.6/5 (423 download)

DOWNLOAD NOW!

Book Synopsis CRISPR-Cas Systems by : Rodolphe Barrangou

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.

The Chromosome 22q11.2 Deletion Syndrome

Author : Donna M. McDonald-McGinn
Publisher : Academic Press
ISBN 13 : 0128160489
Total Pages : 526 pages
Book Rating : 4.1/5 (281 download)

DOWNLOAD NOW!

Book Synopsis The Chromosome 22q11.2 Deletion Syndrome by : Donna M. McDonald-McGinn

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

Pathology of Childhood and Adolescence

Author : Consolato M. Sergi
Publisher : Springer Nature
ISBN 13 : 3662591693
Total Pages : 1617 pages
Book Rating : 4.6/5 (625 download)

DOWNLOAD NOW!

Book Synopsis Pathology of Childhood and Adolescence by : Consolato M. Sergi

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.

Transient Ischemic Attack and Stroke

Author : Sarah T. Pendlebury
Publisher : Cambridge University Press
ISBN 13 : 0521735122
Total Pages : 407 pages
Book Rating : 4.5/5 (217 download)

DOWNLOAD NOW!

Book Synopsis Transient Ischemic Attack and Stroke by : Sarah T. Pendlebury

Download or read book Transient Ischemic Attack and Stroke written by Sarah T. Pendlebury and published by Cambridge University Press. This book was released on 2009-02-19 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accessible handbook covering the investigation, diagnosis and management of transient ischemic attacks and minor strokes.

Basketball Sports Medicine and Science

Author : Lior Laver
Publisher : Springer Nature
ISBN 13 : 3662610701
Total Pages : 1018 pages
Book Rating : 4.6/5 (626 download)

DOWNLOAD NOW!

Book Synopsis Basketball Sports Medicine and Science by : Lior Laver

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.

Pediatric Neurology

Author : Tena Rosser
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781778886
Total Pages : 360 pages
Book Rating : 4.7/5 (788 download)

DOWNLOAD NOW!

Book Synopsis Pediatric Neurology by : Tena Rosser

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.

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Author : Herman E. Wyandt
Publisher : Springer
ISBN 13 : 9811030359
Total Pages : 500 pages
Book Rating : 4.8/5 (11 download)

DOWNLOAD NOW!

Book Synopsis Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis by : Herman E. Wyandt

Download or read book Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.

Reproductive Genetics

Author : Sean Kehoe
Publisher : RCOG
ISBN 13 : 1906985162
Total Pages : 245 pages
Book Rating : 4.9/5 (69 download)

DOWNLOAD NOW!

Book Synopsis Reproductive Genetics by : Sean Kehoe

Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

The Bedside Dysmorphologist

Author : William Reardon
Publisher : Oxford University Press, USA
ISBN 13 : 0199970882
Total Pages : 409 pages
Book Rating : 4.1/5 (999 download)

DOWNLOAD NOW!

Book Synopsis The Bedside Dysmorphologist by : William Reardon

Download or read book The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press, USA. This book was released on 2015-10-14 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.

Aneurysms-Osteoarthritis Syndrome

Author : Denise van der Linde
Publisher : Elsevier
ISBN 13 : 0128027118
Total Pages : 180 pages
Book Rating : 4.1/5 (28 download)

DOWNLOAD NOW!

Book Synopsis Aneurysms-Osteoarthritis Syndrome by : Denise van der Linde

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