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Author: George Jabboure Netto
Publisher: Springer
ISBN: 3319968300
Category : Medical
Languages : en
Pages : 631
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Book Description
The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.
Author: George Jabboure Netto
Publisher: Springer
ISBN: 3319968300
Category : Medical
Languages : en
Pages : 631
Get Book Here
Book Description
The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.
Author: Görker Sel
Publisher: Springer Nature
ISBN: 3030296695
Category : Medical
Languages : tr
Pages : 319
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Book Description
This book, based on non-interactive question-and-answer format, offers an essential guide for medical students who need to prepare for oral exams or clinical visits. Starting from specific clinical situations the volume provides clear questions on the theory related to the cases. Each question is followed by correct answers that summarize the main information. Suggested reading are included to deepen the topics and enhance the readers knowledge. Accordingly, this practical guide will help students get ready for their oral exams, and help prepare young residents for their first clinical cases.
Author: Riyaz Ahmad Rather
Publisher: Springer Nature
ISBN: 9819764025
Category :
Languages : en
Pages : 286
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Book Description
Author: Kenneth Lyons Jones
Publisher:
ISBN:
Category : Health & Fitness
Languages : en
Pages : 888
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Book Description
This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
Author: Lieve Page-Christiaens
Publisher: Academic Press
ISBN: 0128141905
Category : Medical
Languages : en
Pages : 408
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Book Description
Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. - Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects - Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants - Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT - Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
Author: Christof Mandry
Publisher: Brill U Schoningh
ISBN: 9783506715425
Category :
Languages : de
Pages : 244
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Book Description
Medicine, ethics, and theology embrace various ideas and concepts regarding human suffering - ranging from pain, suffering from loneliness, a lack of meaning or finitude, to a religious understanding of suffering, grounded in a suffering and compassionate God. In the practices of clinical medical ethics and health care chaplaincy, these diverse concepts overlap. What kind of conflicts arise from different concepts in patient care and counseling, and how should they be dealt with in a reflective way? Fostering international interdisciplinary scientific conversations, the book aims to deepen the discussion in medical ethics concerning the understanding of suffering, and the caring and counseling of patients.
Author: Thomas Liehr
Publisher: Springer Science & Business Media
ISBN: 3642207669
Category : Medical
Languages : en
Pages : 233
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Book Description
Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.
Author: Robert L. Nussbaum
Publisher:
ISBN: 9788131243145
Category :
Languages : en
Pages : 532
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Book Description
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos.
Author: Sean Kehoe
Publisher: RCOG
ISBN: 1906985162
Category : Medical
Languages : en
Pages : 245
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Book Description
This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.
Author: Bonnie Rochman
Publisher: Scientific American / Farrar, Straus and Giroux
ISBN: 0374713960
Category : Family & Relationships
Languages : en
Pages : 289
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Book Description
A sharp-eyed exploration of the promise and peril of having children in an age of genetic tests and interventions Is screening for disease in an embryo a humane form of family planning or a slippery slope toward eugenics? Should doctors tell you that your infant daughter is genetically predisposed to breast cancer? If tests revealed that your toddler has a genetic mutation whose significance isn’t clear, would you want to know? In The Gene Machine, the award-winning journalist Bonnie Rochman deftly explores these hot-button questions, guiding us through the new frontier of gene technology and how it is transforming medicine, bioethics, health care, and the factors that shape a family. Rochman tells the stories of scientists working to unlock the secrets of the human genome; genetic counselors and spiritual advisers guiding mothers and fathers through life-changing choices; and, of course, parents (including Rochman herself) grappling with revelations that are sometimes joyous, sometimes heartbreaking, but always profound. She navigates the dizzying and constantly expanding array of prenatal and postnatal tests, from carrier screening to genome sequencing, while considering how access to more tests is altering perceptions of disability and changing the conversation about what sort of life is worth living and who draws the line. Along the way, she highlights the most urgent ethical quandary: Is this technology a triumph of modern medicine or a Pandora’s box of possibilities? Propelled by human narratives and meticulously reported, The Gene Machine is both a scientific road map and a meditation on our power to shape the future. It is a book that gets to the very core of what it means to be human.
