The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher:
ISBN: 0199970882
Category : Family & Relationships
Languages : en
Pages : 409

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Book Description
The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class clinical geneticist and enriched with a library of original photos, it provides a safety net for physicians encountering abnormalities in physical exam. No other book in the market sets out to assist the pediatrician and other non-geneticists in how to interpret the clinical signs in syndromology and to lead the clinician to sensible conclusions, both in terms of clinical management and in terms of initiating of appropriate investigation. The Bedside Dysmorphologist distills a lifetime of clinical experience, nuance, and variation into a manageable volume, one that will instill confidence in clinicians and guide them through this arcane area of medicine.

The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher:
ISBN: 0199970882
Category : Family & Relationships
Languages : en
Pages : 409

Get Book Here

Book Description
The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class clinical geneticist and enriched with a library of original photos, it provides a safety net for physicians encountering abnormalities in physical exam. No other book in the market sets out to assist the pediatrician and other non-geneticists in how to interpret the clinical signs in syndromology and to lead the clinician to sensible conclusions, both in terms of clinical management and in terms of initiating of appropriate investigation. The Bedside Dysmorphologist distills a lifetime of clinical experience, nuance, and variation into a manageable volume, one that will instill confidence in clinicians and guide them through this arcane area of medicine.

The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher:
ISBN: 9780199975204
Category : Abnormalities, Human
Languages : en
Pages : 0

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Book Description
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.

The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher:
ISBN: 9780190496142
Category :
Languages : en
Pages :

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Book Description


Essential Medical Genetics

Essential Medical Genetics PDF Author: Edward S. Tobias
Publisher: John Wiley & Sons
ISBN: 1118293703
Category : Medical
Languages : en
Pages : 351

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Book Description
Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions. This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store.

Oxford Handbook of Paediatrics

Oxford Handbook of Paediatrics PDF Author: Robert C. Tasker
Publisher: Oxford University Press, USA
ISBN: 019960830X
Category : Medical
Languages : en
Pages : 1125

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Book Description
Fully revised for the new edition, this handbook covers all significant aspects of acute and chronic paediatrics. Areas such as neonatology, surgery, genetics and congenital malformations and child protection are covered in a user-friendly and succinct style.

Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood

Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood PDF Author: Victor C. Baum
Publisher: Lippincott Williams & Wilkins
ISBN: 1496310047
Category : Medical
Languages : en
Pages : 2156

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Book Description
This text presents the anesthetic implications of genetic, metabolic, and dysmorphic pediatric disorders in a uniform format that moves through common and uncommon manifestations in the major anatomic areas and concludes with implications for the anesthetists faced with such a case. This unique format is useful for quick look-up of information that is otherwise esoteric and difficult to find. The new edition will be completely updated and will be presented in full color for the first time, allowing for the addition of many color photographs.

Cleveland Clinic Intensive Review of Pediatrics

Cleveland Clinic Intensive Review of Pediatrics PDF Author: Camille Sabella
Publisher: Lippincott Williams & Wilkins
ISBN: 1469822695
Category : Medical
Languages : en
Pages : 1597

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Book Description
Users will build confidence and reduce anxiety as they prepare for the American Board of Pediatrics certification and recertification exams. Written primarily by distinguished Cleveland Clinic faculty, this detailed and practical review is organized into subspecialty sections, each concluding with a board simulation chapter to build users’ test-taking skills. Numerous bulleted lists, tables, and illustrations improve retention of essential facts. Two practice board exams at the end of the book provide opportunities for self-assessment. Convenient companion website offers the fully searchable text, an image bank, and 100 online-only questions with answers. The Fourth Edition includes new board simulation in sports medicine, detailed rationales for each response, and self-assessment features in all board simulation chapters that let users evaluate their strengths and weaknesses. This is the tablet version which does not include access to the supplemental content mentioned in the text.

Harper's Practical Genetic Counselling, Eighth Edition

Harper's Practical Genetic Counselling, Eighth Edition PDF Author: Angus Clarke
Publisher: CRC Press
ISBN: 1000712621
Category : Medical
Languages : en
Pages : 543

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Book Description
Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders. Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genomebased investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice. The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other healthcare professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

Oxford Desk Reference: Clinical Genetics and Genomics

Oxford Desk Reference: Clinical Genetics and Genomics PDF Author: Helen V. Firth
Publisher: Oxford University Press
ISBN: 0192519832
Category : Medical
Languages : en
Pages : 1492

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Book Description
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.

Genetics and Genomics in Nursing and Health Care

Genetics and Genomics in Nursing and Health Care PDF Author: Theresa A Beery
Publisher: F.A. Davis
ISBN: 0803660960
Category : Medical
Languages : en
Pages : 457

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Book Description
Complex concepts made manageable! Build the foundation you need to understand the science of genetics and its growing role in the diagnosis and treatment of diseases and disorders. Confidently tackle the basics of genetic inheritance, the influence of somatic and germline mutations, the multifactorial relationship of gene-environment interactions, and the foundation of ethical behavior. Everyday language makes these often-intimidating topics easy to understand, while clearly defined principles, logical explanations, illustrations, tables, and clinical examples ensure you master the material.