Smith's Recognizable Patterns of Human Malformation E-Book

Author: Kenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo

Publisher: Elsevier Health Sciences

ISBN: 0323186688

Category: Medical

Page: 979

View: 2006

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Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes.

Oxford Desk Reference: Clinical Genetics and Genomics

Author: Helen V. Firth,Jane A. Hurst

Publisher: Oxford University Press

ISBN: 0192519832

Category: Medical

Page: 824

View: 9807

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A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Principles and Practice of Pediatric Infectious Diseases E-Book

Author: Sarah S. Long,Charles G. Prober,Marc Fischer

Publisher: Elsevier Health Sciences

ISBN: 0323461328

Category: Medical

Page: 1714

View: 2564

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Comprehensive in scope, yet concise and easy to manage, Principles and Practice of Pediatric Infectious Diseases, 5th Edition, by Drs. Sarah Long, Charles Prober, and Marc Fischer, is your go-to resource for authoritative information on infectious diseases in children and adolescents. A veritable "who's who" of global authorities provides the practical knowledge you need to understand, diagnose, and manage almost any pediatric infectious disease you may encounter. Features a consistent, easy-access format with high-yield information boxes, highlighted key points, and an abundance of detailed illustrations and at-a-glance tables. Allows quick look-up by clinical presentation, pathogen, or type of host. Includes coverage of the latest vaccine products, recommendations, and effectiveness as well as expanded diagnostics and therapies for autoinflammatory/periodic fever syndromes. Covers emerging viruses such as Zika, Ebola, and EV-D68, as well as infectious risks of immunomodulating drugs and expanding antimicrobial resistance patterns. Discusses expanding antimicrobial resistance patterns and new therapies for viral and fungal infections and resistant bacterial infections.

Management of Genetic Syndromes

Author: Suzanne B. Cassidy,Judith E. Allanson

Publisher: John Wiley & Sons

ISBN: 1118210670

Category: Medical

Page: 984

View: 4107

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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Smith's Recognizable Patterns of Human Deformation

Author: John M. Graham,Pedro A. Sanchez-Lara

Publisher: Elsevier Health Sciences

ISBN: 0323294944

Category: Medical

Page: 399

View: 8382

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Perfect for residents, pediatricians, practitioners, or parents seeking further information, Smith's Recognizable Patterns of Human Deformation provides evidence-based management for a range of common pediatric problems affecting the limbs and craniofacial region. The only source devoted to the diagnoses and management of birth defects resulting from mechanical forces, this reference supplies the essential guidance needed for timely intervention and effective treatment.

Medical Genetics in Pediatric Practice

Author: Aap,American Academy of Pediatrics

Publisher: Amer Academy of Pediatrics

ISBN: 9781581104967

Category: Medical

Page: 503

View: 3676

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Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more!

Genetic Disorders and the Fetus

Diagnosis, Prevention, and Treatment

Author: Aubrey Milunsky

Publisher: Springer Science & Business Media

ISBN: 1468434381

Category: Medical

Page: 704

View: 435

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Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

Chromosome Abnormalities and Genetic Counseling

Author: R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer

Publisher: OUP USA

ISBN: 0195375335

Category: Medical

Page: 634

View: 4620

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Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Bone dysplasias

an atlas of genetic disorders of skeletal development

Author: N.A

Publisher: Elsevier,Urban&FischerVerlag

ISBN: 9780343721435

Category:

Page: N.A

View: 3431

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Neonatal Dermatology E-Book

Author: Lawrence F. Eichenfield,Ilona J. Frieden,Erin Mathes,Andrea Zaenglein,Nancy B. Esterly

Publisher: Elsevier Health Sciences

ISBN: 1437720773

Category: Medical

Page: 576

View: 4018

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Comprehensive and heavily illustrated, this is a unique reference for anyone involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. In addition to over 500 superb photographs of normal and abnormal skin conditions, this latest edition also includes new algorithms, new tables, and new care plans. Simple to use text and tables for reference during daily practice. Comprehensive information on infant skin care and toxicology. Differential diagnosis aided by lists, text and images. Assists with work-up and management of common and rare conditions New Care Plan boxes help you to outline your diagnosis and treatment plan. Differential diagnosis algorithms guide you to more effective decision making. New illustrations and photos provide even more visual examples than before.

Feigin and Cherry's Textbook of Pediatric Infectious Diseases E-Book

Author: James Cherry,Gail J. Demmler-Harrison,Sheldon L. Kaplan,William J. Steinbach,Peter J Hotez

Publisher: Elsevier Health Sciences

ISBN: 0323392814

Category: Medical

Page: 3000

View: 9594

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Offering unparalleled coverage of infectious diseases in children and adolescents, Feigin & Cherry’s Textbook of Pediatric Infectious Diseases 8th Edition, continues to provide the information you need on epidemiology, public health, preventive medicine, clinical manifestations, diagnosis, treatment, and much more. This extensively revised edition by Drs. James Cherry, Gail J. Demmler-Harrison, Sheldon L. Kaplan, William J. Steinbach, and Peter J. Hotez, offers a brand-new full-color design, new color images, new guidelines, and new content, reflecting today’s more aggressive infectious and resistant strains as well as emerging and re-emerging diseases Features expanded information on infections in the compromised host; immunomodulating agents and their potential use in the treatment of infectious diseases; and Ebola virus. Contains hundreds of new color images throughout, as well as new guidelines, new resistance epidemiology, and new Global Health Milestones. Includes new chapters on Zika virus and Guillain-Barré syndrome.

Signs and Symptoms of Genetic Conditions

A Handbook

Author: Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme

Publisher: Oxford University Press

ISBN: 0199388695

Category: Medical

Page: 418

View: 3176

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Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: ? Prominent flow chart diagrams that graphically depict the diagnostic approach ? Concise recommendations for laboratory and/or imaging studies ? Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Clinical Pediatric Dermatology

A Textbook of Skin Disorders of Childhood and Adolescence

Author: Sidney Hurwitz

Publisher: W.B. Saunders Company

ISBN: 9780721615158

Category: Medical

Page: 727

View: 3908

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Here's a complete reference on the skin disorders of infants and children for the pediatrician, pediatric dermatologist, and dermatologist who sees children. This comprehensive 2nd edition is single-authored, so it's cohesive, and contains a generous amount of color photos. A classic in the field!

Child Neurology

Author: John H. Menkes,Harvey B. Sarnat,Bernard L. Maria

Publisher: Lippincott Williams & Wilkins

ISBN: 9780781751049

Category: Medical

Page: 1186

View: 9196

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Revised to incorporate the latest advances in the neurosciences and clinical neurology, the Seventh Edition of this classic text provides practical, cost-effective problem-solving approaches to all diseases affecting the developing nervous system. In clinically relevant terms, the book explains how recent developments in molecular biology, genetics, neurochemistry, neurophysiology, neuropathology, and neuroimaging impact on diagnosis and treatment. Chapters focus on specific disorders or groups of disorders and emphasize differential diagnosis, disease course, treatment, and prognosis. This edition has a new chapter on mitochondrial cytopathies.

Nutrition Management of Patients with Inherited Metabolic Disorders

Author: Phyllis B. Acosta

Publisher: Jones & Bartlett Publishers

ISBN: 1449617999

Category: Health & Fitness

Page: 476

View: 2380

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5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.

Nelson Pediatric Symptom-Based Diagnosis E-Book

Author: Robert M. Kliegman,Patricia S Lye,Brett J. Bordini,Heather Toth,Donald Basel

Publisher: Elsevier Health Sciences

ISBN: 0323447236

Category: Medical

Page: 800

View: 5641

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Nelson Pediatric Symptom-Based Diagnosis uses a unique, step-by-step, symptom-based approach to differential diagnosis of diseases and disorders in children and adolescents. Conveniently linked to the world’s best-selling pediatric reference, Nelson Textbook of Pediatrics, 20th Edition, it focuses on the symptoms you’re likely to see in general practice, as well as uncommon disorders. You’ll find clear guidance on exactly what to consider and how to proceed when faced with a host of common symptoms such as cough, fever, headache, chest pain, gait disturbances, and many more. Features a practical, symptom-based approach that enables you to form an accurate diagnosis. Uses the same consistent, step-by-step presentation in every chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment. Covers new approaches to diagnostic imaging and genetic testing, new diagnostic guidelines, BRUE (brief resolved unexplained event), stroke in children, behavior disorders, syncope, recurrent fever syndromes, and much more. Includes full-color illustrations, algorithms, tables, and "red flags" to aid differential diagnosis. Serves as an ideal companion to Nelson Textbook of Pediatrics, 20th Edition.

Berman's Pediatric Decision Making E-Book

Author: Lalit Bajaj,Simon Hambidge,Ann-Christine Nyquist,Gwendolyn Kerby

Publisher: Elsevier Health Sciences

ISBN: 0323087027

Category: Medical

Page: 808

View: 662

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Berman’s Pediatric Decision Making uses an algorithmic, structured approach to lead you to the right diagnosis and treatment every time. Drs. Lalit Baja, Simon Hambidge, Ann-Christine Nyquist, and Gwendolyn Kerby use evidence-based research and flow charts for each presenting complaint or specific disorder to provide quick access to the information you need for effective decision making. With updated drug tables and revised algorithms, this streamlined new edition makes it even easier for you to diagnose and manage common clinical problems from infancy through adolescence. Rapidly access guidance on diagnosis and management from algorithms for each clinical disorder. Treat the full range of diseases and disorders with comprehensive coverage of diagnosis, assessment of severity, and clinical management. Choose the best treatment for each case thanks to indications for surgical interventions as well as expensive diagnostic procedures Stay current on recent developments and make effective decisions for movement disorders, physical abuse in children, sexual abuse in children, eating disorders, ADHD, and other hot topics. Find answers quickly and easily with a new table of contents organized into two sections—Presenting Complaints and Specific Disorders—that reduces the need to flip between chapters. Tap into the diverse perspectives of expert authors from all over the country. Get only the information you need in the streamlined new edition with shorter, more user-friendly flow diagrams and fewer specialized chapters.

Handbook of Physical Measurements

Author: Karen W. Gripp,Anne M. Slavotinek,Judith G. Hall,Judith E. Allanson

Publisher: Oxford University Press

ISBN: 0199935718

Category: Medical

Page: 582

View: 5928

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Thoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic syndromes. It has been formatted as a practical manual that can be carried to the clinic or ward for an assessment of physical features and measurements.

Practical Genetic Counselling

Author: Peter S. Harper

Publisher: Elsevier

ISBN: 1483183661

Category: Health & Fitness

Page: 316

View: 1705

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Practical Genetic Counselling, Third Edition presents the progress in the field of medical genetics. This book covers the broad area of congenital malformation syndromes and dysmorphology. Organized into three parts encompassing 26 chapters, this edition begins with an overview of the main steps in the process of genetic counselling. This text then examines how a Mendelian inheritance may be established by a combination of clinical diagnosis. Other chapters consider the risks in specific groups of chromosomal disorders. This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. The final chapter deals with how genetic counselling is contributing to reducing the general burden of genetic disease in the population. This book is a valuable resource for geneticists, neurologists, clinicians, pediatricians, and obstetricians. Readers who are interested to know about genetic disorders will also find this book useful.