Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
Author: Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publsiher: Academic Press
Total Pages: 534
Release: 2020-04-10
ISBN 10: 0128173459
ISBN 13: 9780128173459
Language: EN, FR, DE, ES & NL

Handbook of Clinical Adult Genetics and Genomics Book Review:

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics
Author: Helen V. Firth,Jane A. Hurst
Publsiher: Oxford University Press
Total Pages: 877
Release: 2017
ISBN 10: 0199557500
ISBN 13: 9780199557509
Language: EN, FR, DE, ES & NL

Oxford Desk Reference Clinical Genetics and Genomics Book Review:

Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Oxford Handbook of Genetics

Oxford Handbook of Genetics
Author: Guy Bradley-Smith,Sally Hope,Helen V. Firth,Jane A. Hurst
Publsiher: Oxford University Press
Total Pages: 449
Release: 2009-10-29
ISBN 10: 0199545367
ISBN 13: 9780199545360
Language: EN, FR, DE, ES & NL

Oxford Handbook of Genetics Book Review:

Genetics is a rapidly changing field, making it difficult for Primary Care practitioners to keep up to date. This book is a collaboration between 2 consultant geneticists, and 2 experienced GPs. This small book provides accessible information, including explanatory diagrams and family trees, about both specific genetic diseases and the possible genetic components of major diseases, such as heart disease and diabetes, for the primary health care team. It aims tohelp practitioners to know why, when and where they should refer patients or affected families to get the best advice about, or surveillance of, genetic disease. It also contains information about the genetic testing which may be offered in secondary care. Each chapter also contains a list ofresources which might be of further use to the practitioner or their patient. There are chapters on cancer, as well as antenatal screening, and specific problems that may arise from such screening.

Oxford Desk Reference

Oxford Desk Reference
Author: Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publsiher: Oxford University Press, USA
Total Pages: 708
Release: 2005
ISBN 10: 9780192628961
ISBN 13: 0192628968
Language: EN, FR, DE, ES & NL

Oxford Desk Reference Book Review:

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Genomic Medicine

Genomic Medicine
Author: Dhavendra Kumar,Charis Eng
Publsiher: Oxford Monographs on Medical G
Total Pages: 814
Release: 2014-10-15
ISBN 10: 019989602X
ISBN 13: 9780199896028
Language: EN, FR, DE, ES & NL

Genomic Medicine Book Review:

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Cerebral Palsy An Issue of Physical Medicine and Rehabilitation Clinics of North America E Book

Cerebral Palsy An Issue of Physical Medicine and Rehabilitation Clinics of North America  E Book
Author: Aloysia Schwabe
Publsiher: Elsevier Health Sciences
Total Pages: 240
Release: 2019-12-03
ISBN 10: 0323709532
ISBN 13: 9780323709538
Language: EN, FR, DE, ES & NL

Cerebral Palsy An Issue of Physical Medicine and Rehabilitation Clinics of North America E Book Book Review:

This issue of Physical Medicine and Rehabilitation Clinics, guest edited by Dr. Aloysia L. Schwabe, will cover a number of important topics related to Cerebral Palsy. This issue is one of four each year selected by our series Consulting Editor, Dr. Santos Martinez. Articles in this issue include but are not limited to: Comprehensive Care in CP, The Expanding Role of Genetics in CP, Musculoskeletal Imaging in CP, Updates in Medical Management of Hypertonia, Biomechanics and Lower Limb Bracing, Surgical tone Reduction In CP, Motion Analysis in Pre-operative Surgical Planning, Technological Advances in CP Rehabilitation, Adaptive Sports and Recreation, Transition, Adult Orthopedic Issues in CP, and CPRN.

ABC of Clinical Genetics

ABC of Clinical Genetics
Author: Helen M. Kingston
Publsiher: BMJ Books
Total Pages: 84
Release: 1997-06-04
ISBN 10: 9780727911018
ISBN 13: 0727911015
Language: EN, FR, DE, ES & NL

ABC of Clinical Genetics Book Review:

Genetics is now a part of everyday medicine, and the demand for genetic investigation and counselling is increasing. It is vital that all doctors are informed about the subject anf it's possibilities, but many are put off by the complex concepts involved With the help of many high quality illustrations, the ABC of Clinical Gentics explains in simple terms genetic mechanisms and analysis, and gives all of the clinical information necessary for doctors and other health professionals to advise patients on genetic disorders. It also discusses the implications of these diseases for relatives and the ethical human dilemmas involved. Topics include: Inheritance, estimation of risk, and detection of carriers Chromosomal disorders Genetics of common disorders Genitics of cancer Dysmorphology and teretogenesis Gene structure and function DNA analysis This second edition has been fully updated and has further chapters dealing with new aspects of inheritance and new Knowledge of molecular genetics of common disorders. It provides a simple but comprehensive introduction to clinical genetics for doctors, medical students, nurses and midwives.

Cardiovascular Genetics and Genomics

Cardiovascular Genetics and Genomics
Author: Dhavendra Kumar,Perry Elliott
Publsiher: Springer
Total Pages: 920
Release: 2018-01-17
ISBN 10: 3319661140
ISBN 13: 9783319661148
Language: EN, FR, DE, ES & NL

Cardiovascular Genetics and Genomics Book Review:

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

SPEC Handbook of Clinical Neurology Volume 144 Huntington Disease 12 Month Access eBook

SPEC     Handbook of Clinical Neurology  Volume 144  Huntington Disease  12 Month Access  eBook
Author: Anonim
Publsiher: Academic Press
Total Pages: 312
Release: 2017-09-22
ISBN 10: 0128019034
ISBN 13: 9780128019030
Language: EN, FR, DE, ES & NL

SPEC Handbook of Clinical Neurology Volume 144 Huntington Disease 12 Month Access eBook Book Review:

Huntington Disease summarizes the most recent findings related to the disease, providing both cutting edge coverage for clinical/research specialists looking to expand their knowledge base of Huntington disease information, as well as solid groundwork for advanced students from various backgrounds (neurology, psychiatry, neuropsychology, genetics). The volume includes all major areas of Huntington disease clinical care and research, whereas many other HD texts focus solely on neurological symptoms. This book also addresses behavioral and cognitive symptoms, brain imaging, and family dynamics and therapeutic alliances in working with individuals affected by HD. Clinical trials are covered extensively, including design considerations for therapeutic studies. The devastating nature of Huntington’s disease is well appreciated throughout the neuroscience, neurology, and psychiatric communities, and a great amount of basic and clinical research is currently taking place. However, much of that occurs in isolated research silos, and it is critical that an interdisciplinary resource be developed to provide in depth information to enhance communication and collaboration. This volume in the Handbook of Clinical Neurology series is that resource. Includes coverage of both basic science and clinical aspects of the disease, as well as treatment, experimental therapeutics, and biomarkers Provides an essential resource for the non-neurologist, including necessary background for understanding the disease before making a more detailed study proposal Provides an interdisciplinary approach that can be applied in everyday clinic and research efforts Features chapters edited by leaders in the field around the globe—the broadest expert coverage available

Genomics and Health in the Developing World

Genomics and Health in the Developing World
Author: Dhavendra Kumar
Publsiher: Oxford University Press
Total Pages: 1536
Release: 2012-05-11
ISBN 10: 019970547X
ISBN 13: 9780199705474
Language: EN, FR, DE, ES & NL

Genomics and Health in the Developing World Book Review:

Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta
Author: Meena Balasubramanian
Publsiher: Unknown
Total Pages: 63
Release: 2017-01-31
ISBN 10: 9781615047444
ISBN 13: 1615047441
Language: EN, FR, DE, ES & NL

Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta Book Review:

Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI. There is a broad spectrum of clinical severity in OI, ranging from multiple fractures in utero and perinatal death, to near-normal adult stature and low fracture incidence. Facial dysmorphism has been noted, but is not well described, nor is it an invariable feature. Sillence et al., in 1979, provided the clinical classification, which has been further expanded. Genetic defects in type 1 collagen can be identified in 85% of patients with a clinical diagnosis of OI, that is, mutations in COL1A1/COL1A2, which follows an autosomal dominant pattern of inheritance. Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis. Given the possible antenatal presentation and prognosis associated with OI, it is important to make this diagnosis early and be able to distinguish this from other lethal skeletal dysplasias. It is also important to distinguish nonaccidental injury from a pathological cause of fractures, such as OI, and diagnose this promptly in these situations. However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. OI is one such rare genetic condition where treatment is available in the form of bisphosphonates, which has a huge impact on quality of life. Despite advances in medical therapy, multidisciplinary management including physiotherapy remains the mainstay of treatment and improved outcomes in OI.

Neurogenetics

Neurogenetics
Author: Anonim
Publsiher: Elsevier
Total Pages: 436
Release: 2018-01-08
ISBN 10: 0444632352
ISBN 13: 9780444632357
Language: EN, FR, DE, ES & NL

Neurogenetics Book Review:

Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. Presents a comprehensive coverage of neurogenetics Details the latest science and impact on our understanding of neurological psychiatric disorders Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Cancer Principles and Practice of Oncology Handbook of Clinical Cancer Genetics

Cancer Principles and Practice of Oncology  Handbook of Clinical Cancer Genetics
Author: Ellen Matloff
Publsiher: Lippincott Williams & Wilkins
Total Pages: 208
Release: 2013-03-25
ISBN 10: 1469833883
ISBN 13: 9781469833880
Language: EN, FR, DE, ES & NL

Cancer Principles and Practice of Oncology Handbook of Clinical Cancer Genetics Book Review:

This practical, user-friendly guidebook will allow the clinician to search under disease site for the hereditary cancer syndromes relevant for his/her patient's cancer. For example, a gynecologist oncologist whose patient has ovarian cancer can turn to the Ovary chapter and quickly read a summary of all of the hereditary cancer syndromes that include ovarian cancer. She can learn the questions she should be asking when expanding that patient's personal and family history, which genes are most relevant, whether to refer that patient on for genetic counseling and testing, and how to manage that patient long-term if the patient is mutation positive or negative. The same holds true for the practicing oncologist, surgeon, urologist, endocrinologist, gynecologist, primary care physician, physician's assistant, advanced practice nurse and any other clinician seeing a patient who has had cancer. This guidebook also contains an overview article on genetic counseling and testing and several in depth articles on issues that are up and coming in the field of hereditary cancer.

Mastering Pharmacogenomics A Nurse s Handbook for Success

Mastering Pharmacogenomics  A Nurse s Handbook for Success
Author: Dale Halsey Lea,Dennis J. Cheek,Daniel Brazeau,Gayle Brazeau
Publsiher: Sigma Theta Tau
Total Pages: 264
Release: 2015-01-14
ISBN 10: 1938835700
ISBN 13: 9781938835704
Language: EN, FR, DE, ES & NL

Mastering Pharmacogenomics A Nurse s Handbook for Success Book Review:

Pharmacogenomics, the study of the role of genetics in drug response, has developed into a critical new area in battling disease and improving outcomes. As our knowledge of the human genome grows, and with the advent of next-generation sequencing technologies, the role of genetic research is evolving to guide therapy and prevent many diseases and mitigate side-effects of current treatments. As a pivotal member of the healthcare team, nurses must acquire competency in pharmacogenomics to deliver optimal patient care in the 21st century. Mastering Pharmacogenomics provides nursing professionals with a foundational knowledge of human genetics and genomics that can be applied in optimizing drug therapy and patient care delivery. Coverage includes: Essential pharmacogenomics competencies for registered nurses Genomics technologies and resources Critical properties of drug response and disposition Covered specialties include obstetrics and prenatal patients, pediatrics, older adult patients, and oncology Ethics and patient careFuture developments in technology and delivery

Neurogenetics

Neurogenetics
Author: Anonim
Publsiher: Elsevier
Total Pages: 480
Release: 2018-01-09
ISBN 10: 0444640770
ISBN 13: 9780444640772
Language: EN, FR, DE, ES & NL

Neurogenetics Book Review:

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Human Malformations and Related Anomalies

Human Malformations and Related Anomalies
Author: Roger E. Stevenson,Judith G. Hall
Publsiher: Oxford University Press
Total Pages: 1520
Release: 2005-10-27
ISBN 10: 019974808X
ISBN 13: 9780199748082
Language: EN, FR, DE, ES & NL

Human Malformations and Related Anomalies Book Review:

This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

Medical Genetics

Medical Genetics
Author: Lynn B. Jorde,John C. Carey,Michael J. Bamshad,Raymond L. White
Publsiher: Elsevier Masson
Total Pages: 363
Release: 2003
ISBN 10: 9782842995751
ISBN 13: 2842995759
Language: EN, FR, DE, ES & NL

Medical Genetics Book Review:

The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.

Genetic Hearing Loss

Genetic Hearing Loss
Author: Patrick J. Willems
Publsiher: CRC Press
Total Pages: 406
Release: 2003-10-17
ISBN 10: 0824756886
ISBN 13: 9780824756888
Language: EN, FR, DE, ES & NL

Genetic Hearing Loss Book Review:

Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

Understanding Genetics

Understanding Genetics
Author: Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
Publsiher: Lulu.com
Total Pages: 100
Release: 2009
ISBN 10: 0982162219
ISBN 13: 9780982162217
Language: EN, FR, DE, ES & NL

Understanding Genetics Book Review:

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Bradley s Neurology in Clinical Practice E Book

Bradley s Neurology in Clinical Practice E Book
Author: Joseph Jankovic,John C. Mazziotta,Scott L Pomeroy
Publsiher: Elsevier Health Sciences
Total Pages: 2400
Release: 2021-03-23
ISBN 10: 0323642624
ISBN 13: 9780323642620
Language: EN, FR, DE, ES & NL

Bradley s Neurology in Clinical Practice E Book Book Review:

A practical, dynamic resource for practicing neurologists, clinicians and trainees, Bradley and Daroff's Neurology in Clinical Practice, Eighth Edition, offers a straightforward style, evidence-based information, and robust interactive content supplemented by treatment algorithms and images to keep you up to date with all that’s current in this fast-changing field. This two-volume set is ideal for daily reference, featuring a unique organization by presenting symptom/sign and by specific disease entities—allowing you to access content in ways that mirror how you practice. More than 150 expert contributors, led by Drs. Joseph Jankovic, John C. Mazziotta, Scott L. Pomeroy, and Nancy J. Newman, provide up-to-date guidance that equips you to effectively diagnose and manage the full range of neurological disorders. Covers all aspects of today’s neurology in an easy-to-read, clinically relevant manner. Allows for easy searches through an intuitive organization by both symptom and grouping of diseases. Features new and expanded content on movement disorders, genetic and immunologic disorders, tropical neurology, neuro-ophthalmology and neuro-otology, palliative care, pediatric neurology, and new and emerging therapies. Offers even more detailed videos that depict how neurological disorders manifest, including EEG and seizures, deep brain stimulation for PD and tremor, sleep disorders, movement disorders, ocular oscillations, EMG evaluation, cranial neuropathies, and disorders of upper and lower motor neurons, as well as other neurologic signs.