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Malattie genetiche

Genetic Diagnosis of Endocrine Disorders

Roy E. Weiss, Samuel Refetoff

editore: Academic Press Inc

pagine: 336

Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book will present the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It will be organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia? The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases. Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work. Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases Genetic counselors offer expert advice on how to use genetic information in counseling patients
83,00 78,85

Management of Genetic Syndromes

Judith E. Allanson, Suzanne B. Cassidy

editore: Wiley-Blackwell (an imprint of John Wiley & Sons Ltd)

pagine: 984

It is imperative for primary care providers and genetic practitioners to have access to appropriate management guidelines for the diagnosis, genetic counseling, and management of individuals of all ages affected by relatively common genetic syndromes. This revision of a critically acclaimed bestseller offers original insights into the medical management of 60 syndromes commonly seen by physicians. Fully revised and expanded, the Third Edition provides family physicians, internists, specialty physicians, medical geneticists, genetic counselors, and families of patients with a more precise reference for study of physical manuifestations of certain syndromes.
177,00 168,15

Epigenetics and Human Health

Linking Hereditary, Environmental and Nutritional Aspects

Alexander Haslberger, Sabine Gressler

editore: Wiley-VCH Verlag GmbH

pagine: 316

After first introducing the concept of epigenetics, this handbook and ready reference provides an overview of the main research on epigenetics. It adopts a multidisciplinary approach, involving molecular biology, molecular epidemiology and nutritional science, with a special focus of the book is on disease prevention and treatment. Of interest to all healthcare-related professionals as well as nutritionists, and the medical community focusing on disease prevention.
146,00 138,70

Oxford Handbook of Genetics

Guy Bradley-Smith, Helen V. Firth
e altri

editore: Oxford University Press

pagine: 480

The Oxford Handbook of Genetics provides an essential overview of this complex subject, distilled into an accessible format for primary care practitioners and junior doctors. It can be used as an aide memoire to gain advice on dealing with individual patients during the working day, or as a reference text to be read over time. Combining the expertise of leading geneticists with the knowledge of experienced general practitioners, the handbook covers the genetics core curriculum as defined by the Royal College of General Practitioners. It includes sections on elementary genetics, single gene disorders, and chromosomal problems, as well as information about the multifactorial diseases, such as ischaemic heart disease, with which practitioners are more familiar. There are also comprehensive sections on antenatal issues, and cancers. A comprehensive glossary with explanations of genetic terminology, and an extensive list of resources, make this book suitable for all healthcare professionals regardless of their level of knowledge or experience. Designed to cross the primary-secondary care interface, this unique handbook covers the gap between general health training and genetic specialist training, including specific advice about when, and how, to make a referral to a genetics service. Given the rapid growth in the genetic knowledge base, this book is designed to be both accessible and informative as a substantive educational resource for practitioners.
38,00 36,10

Disorders of Hemoglobin

Genetics, Pathophysiology, and Clinical Management

Bernard G. Forget, David J. Weatherall
e altri

editore: Cambridge University Press

pagine: 846

This book is a completely revised new edition of the definitive reference on disorders of hemoglobin. Authored by world-renowned experts, the book focuses on basic science aspects and clinical features of hemoglobinopathies, covering diagnosis, treatment, and future applications of current research. While the second edition continues to address the important molecular, cellular, and genetic components, coverage of clinical issues has been significantly expanded, and there is more practical emphasis on diagnosis and management throughout. The book opens with a review of the scientific underpinnings. Pathophysiology of common hemoglobin disorders is discussed next in an entirely new section devoted to vascular biology, the erythrocyte membrane, nitric oxide biology, and hemolysis. Four sections deal with alpha and ss thalassemia, sickle cell disease, and related conditions, followed by special topics. The second edition concludes with current and developing approaches to treatment, incorporating new agents for iron chelation, methods to induce fetal hemoglobin production, novel treatment approaches, stem cell transplantation, and progress in gene therapy.
240,00 228,00
56,00 53,20
18,00 17,10

Congenital Malformations

Evidence-based Evaluation and Management

Barbara K. Burton, Praveen Kumar

editore: McGraw-Hill Medical

pagine: 408

A concise, clinically-focused guide to the evaluation and management of infants with congenital malformations 4 STAR DOODY'S REVIEW! "The presentation of malformations and syndromes in this easy to use format is truly unique. Pediatricians and others who are involved in the care of infants with malformations are often faced with the task of finding a quick reference before meeting with concerned parents. This book will often be used by clinicians evaluating a child with a common malformation...The tables that contain the most common associated syndromes with each malformation are very helpful. So, with this book on the shelf, any clinician could easily and quickly inform themselves about common malformations encountered in nurseries and NICUs all over the world.--Doody's Review Service Congenital Malformations is a comprehensive, practical text that highlights key perspectives on the medical management of infants with malformations. With its convenient system-based organization and evidence-based approach, this clinically-focused guide is designed to optimize the utilization of limited diagnostic resources. Easy-to-follow algorithms and tables enable you to rapidly identify and manage the many different malformations that commonly present in clinical practice, such as cleft lip, cardiac septal defects, and skeletal dysplasias. Features: Succinct, high-yield coverage allows for efficient review of the most common malformations Evidence-based orientation provides up-to-date, clinically relevant diagnostic and treatment recommendations that are based on a meticulous review of the scientific literature Consistent templated format delivers easily accessible information on: Epidemiology/Etiology, Clinical Presentation, Associated Malformations and Syndromes, Evaluation, Management and Prognosis, and Genetic counseling Organized by malformation rather than syndrome - for a clear, easy-to-follow diagnostic guide
126,00 119,70

Molecular and Genetic Basis of Renal Disease

A Companion to Brenner and Rector's The Kidney

David B. Mount, Martin R. Pollak

editore: Saunders

pagine: 592

This companion to "Brenner and Rector's The Kidney" offers a state-of-the-art summary of the most recent advances in renal genetics. "Molecular and Genetic Basis for Renal Disease" provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the neprhon as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also included.
127,00 120,65

Genes and Common Diseases

Genetics in Modern Medicine

Alan Wright, Nicholas Hastie

editore: Cambridge University Press

pagine: 560

Genes and Common Diseases presents an up-to-date view of the role of genetics in modern medicine, reflecting the strengths and limitations of a genetic perspective. The current shift in emphasis from the study of rare single gene disorders to common diseases brings genetics into every aspect of modern medicine, from infectious diseases to therapeutics. However, it is unclear whether this increasingly genetic focus will prove useful in the face of major environmental influences in many common diseases. The book takes a hard and self-critical look at what can and cannot be achieved using a genetic approach and what is known about genetic and environmental mechanisms in a variety of common diseases. It seeks to clarify the goals of human genetic research by providing state-of-the art insights into known molecular mechanisms underlying common disease processes while at the same time providing a realistic overview of the expected genetic and physiological complexity.
68,00 64,60

Concetti di genetica

William S. Klug, Micheal R. Kummings
e altri

editore: Pearson

pagine: 768

41,00 38,95
35,00 33,25
258,00 245,10

A Practical Guide to Human Cancer Genetics

Charis Eng, Eamonn R. Maher
e altri

editore: Cambridge University Press

pagine: 410

The 2006 third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.
77,00 73,15

Preventive Health Care for Children with Genetic Conditions

Providing a Primary Care Medical Home

Golder N. Wilson, W. Carl Cooley

editore: Cambridge University Press

pagine: 582

Originally published as Preventative Management of Children with Congenital Anomalies and Syndromes, this new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.
86,00 81,70
74,00

DNA Repair Protocols

Mammalian Systems -Methods in molecular biology N.314

Henderson, D. S.

editore: Humana Press

pagine: 498

133,00 126,35

The Regulatory Genome

Gene Regulatory Networks in Development and Evolution

Davidson, E. H.

editore: Academic Press

pagine: 288

74,00 70,30

Molecular Genetic Testing in Surgical Pathology

John D. Pfeifer

editore: Lippincott Williams and Wilkins

pagine: 473

Written by experts from Washington University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples - including cytogenetics, fluorescence in situ hybridization (FISH), PCR, electrophoresis and hybridization analysis, DNA sequence analysis, and microarrays. The first part of the book describes each technique, indicates its advantages, disadvantages, capabilities, and limitations, and systematically addresses sensitivity and specificity issues. Subsequent chapters, organized by organ system, detail the specific applications of these tests in surgical pathology. More than 150 full-color and black-and-white illustrations complement the text.
145,00 137,75

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