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: 9069

DOWNLOAD NOW »
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.

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: 4923

DOWNLOAD NOW »
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.

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: 6190

DOWNLOAD NOW »
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 Disease

Author: Sarah S. Long,Larry K. Pickering,Charles G. Prober

Publisher: Elsevier Health Sciences

ISBN: 1437727026

Category: Medical

Page: 1712

View: 3545

DOWNLOAD NOW »
In print, online, or on your mobile device, Principles and Practice of Pediatric Infectious Disease provides the comprehensive and actionable coverage you need to understand, diagnose, and manage the ever-changing, high-risk clinical problems caused by infectious diseases in children and adolescents. With new chapters, expanded and updated coverage, and increased worldwide perspectives, this authoritative medical reference offers the latest need-to-know information in an easily-accessible, high-yield format for quick answers and fast, effective intervention! Spend less time searching thanks to a consistent, easily-accessible format featuring revised high-yield information boxes, highlighted key points, and an abundance of detailed illustrations and at-a-glance tables. Be prepared for the unexpected! A veritable "who's who" of global authorities provides practical knowledge to effectively diagnose and manage almost any infectious disease you may encounter. Quickly look up the answers you need by clinical presentation, pathogen, or type of host. Get expanded coverage for all types of infectious diseases including new chapters on infection related to pets and exotic animals, and tickborne infections. Apply the latest recommendations and treatments for emerging and re-emerging diseases including the H1N1 virus. Access information on the go from your laptop or mobile device via www.expertconsult.com, featuring a downloadable image gallery, fully searchable text, and links to PubMed. Battle the leading cause of death in children with the high-yield Principles and Practice of Pediatric Infectious Disease.

Management of Genetic Syndromes

Author: Suzanne B. Cassidy,Judith E. Allanson

Publisher: John Wiley & Sons

ISBN: 1118210670

Category: Medical

Page: 984

View: 8524

DOWNLOAD NOW »
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

Medical Genetics in Pediatric Practice

Author: Aap,American Academy of Pediatrics

Publisher: Amer Academy of Pediatrics

ISBN: 9781581104967

Category: Medical

Page: 503

View: 8943

DOWNLOAD NOW »
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!

Inborn Metabolic Diseases

Diagnosis and Treatment

Author: Jean-Marie Saudubray,Matthias R. Baumgartner,John Walter

Publisher: Springer

ISBN: 3662497719

Category: Medical

Page: 658

View: 2833

DOWNLOAD NOW »
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

Hurwitz Clinical Pediatric Dermatology

A Textbook of Skin Disorders of Childhood and Adolescence

Author: Amy S. Paller,Anthony J. Mancini

Publisher: Elsevier Health Sciences

ISBN: 0323244750

Category: Pediatric dermatology

Page: 640

View: 6663

DOWNLOAD NOW »
This must-have clinical reference, by Drs. Amy S. Paller and Anthony J. Mancini, provides practical, authoritative guidance for identification and management of all types of skin disorders seen in children and adolescents. Hurwitz Clinical Pediatric Dermatology, 5th Edition, is ideal for pediatricians, dermatologists, family practitioners and anyone who sees children with skin disorders - no matter what level of experience you may have. Benefit from the knowledge and expertise of two leaders in the field, who provide a clearly written, consistent approach throughout the text. Stay on the cutting edge of what's new in pediatric dermatology - from the neonate to the adolescent - with the latest drug developments and disease classifications. Recognize virtually any skin condition you're likely to see thanks to more than 1,000 high-quality color images, including over 300 brand new to this edition. Find the most appropriate therapy options with updated evidence based guidance. Easily locate the information you need with more quick-reference boxes and summary tables throughout the text. Hurwitz provides the easiest access to the information you need to diagnose/treat the dermatologic ailments of your pediatric patients.

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: 6973

DOWNLOAD NOW »
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.

Bone dysplasias

an atlas of genetic disorders of skeletal development

Author: N.A

Publisher: Elsevier,Urban&FischerVerlag

ISBN: 9780343721435

Category:

Page: N.A

View: 8979

DOWNLOAD NOW »

Handbook of Pediatric Autopsy Pathology

Author: Enid Gilbert-Barness,Diane E. Spicer,Thora S. Steffensen

Publisher: Springer Science & Business Media

ISBN: 146146711X

Category: Medical

Page: 750

View: 3351

DOWNLOAD NOW »
Pathologists have long recognized that pediatric autopsy requires great care in technique and dissection to ensure that easily overlooked malformations are recognized and accurate diagnoses are made. The highly experienced authors have created a new edition of Handbook of Pediatric Autopsy Pathology, a comprehensive reference guide to the actual performance of the pediatric autopsy and the optimal recognition and interpretation of pathologic findings. The Handbook of Pediatric Autopsy Pathology, Second Edition covers the spectrum of pediatric pathology with particular reference to those conditions that can be identified at autopsy. New and updated material includes microbiological studies, particularly with the advent of newly described micro-organisms causing disease. The volume also addresses new developments in metabolic diseases, new techniques of ultrasound imaging, and specialized laboratory testing. Furthermore, the book provides a wealth of practical information and bibliographic citations throughout, new copious illustrations and line drawings, numerous standard reference tables, and appendices at the end of multiple chapters. Authored by authorities in the field, Handbook of Pediatric Autopsy Pathology, Second Edition is a valuable resource that will assist general and pediatric pathologists, neonatologists, interns and residents in training, as well as specialists in cytogenetics and ultrasound technicians in understanding the manner and cause of death in its broadest and comprehensive sense.

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: 5637

DOWNLOAD NOW »
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.

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: 8519

DOWNLOAD NOW »
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.

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: 4237

DOWNLOAD NOW »
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!

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: 4357

DOWNLOAD NOW »
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.

Child Neurology

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

Publisher: Lippincott Williams & Wilkins

ISBN: 9780781751049

Category: Medical

Page: 1186

View: 6169

DOWNLOAD NOW »
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: 7444

DOWNLOAD NOW »
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.

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: 470

DOWNLOAD NOW »
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.

Textbook and Color Atlas of Traumatic Injuries to the Teeth

Author: Jens O. Andreasen,Frances M. Andreasen,Lars Andersson

Publisher: Wiley-Blackwell

ISBN: 1119167051

Category: Medical

Page: 1064

View: 2703

DOWNLOAD NOW »
Textbook and Color Atlas of Traumatic Injuries to the Teeth, Fifth Edition encompasses the full scope of acute dental trauma, including all aspects of interdisciplinary treatment. New edition of the definitive reference on dental traumatology Thoroughly revised and updated with a modern look and feel Eight new chapters on innovative developments in the field Contributions from world-renowned authors and editors Linked to dentaltraumaguide.org with a specific chapter on how the book complements the online guide

Pediatric Endocrinology and Inborn Errors of Metabolism Second Edition

Author: Karl Roth,Kyriakie Sarafoglou,Georg Hoffmann

Publisher: McGraw-Hill Education / Medical

ISBN: 9780071773140

Category: Medical

Page: 1008

View: 7067

DOWNLOAD NOW »
The acclaimed clinical guide to managing both pediatric endocrine disorders and inborn errors of metabolism No other text so skillfully blends the disciplines of endocrinology and inborn metabolic disorders into one clinically focused, highly visual resource as Pediatric Endocrinology and Inborn Errors of Metabolism. In this practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights clinicians need to confidently diagnose and manage pediatric patients. This full-color resource guides readers through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Pediatric Endocrinology and Inborn Errors of Metabolism successfully balances authority and comprehensiveness with a strong clinical, practical approach that delivers an unmatched integrated discussion of the fields. • Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process • At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place • Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines