Management of Genetic Syndromes

Medical Genetics heralded the first edition of Management of Generic Syndromes


Author: Suzanne B. Cassidy

Publisher: John Wiley & Sons

ISBN: 9781118210673

Category: Medical

Page: 984

View: 798

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

Cassidy and Allanson s Management of Genetic Syndromes

It was not very many years ago that the coupling of the terms “management” and “
genetic syndromes” would have been regarded as an oxymoron. With the
exception of the inborn errors of metabolism, the notion of managing genetic
disorders ...


Author: John C. Carey

Publisher: John Wiley & Sons

ISBN: 9781119432678

Category: Science

Page: 1104

View: 230

The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes for students, clinicians, and researchers in the field of medical genetics. The 4th edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Each, "expert authored", chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Dentistry in the Interdisciplinary Treatment of Genetic Diseases

The clinical management of patients with oral facial clefting has no doubt been
propelled by this expanding interest in ... Significant delineation of genetic
syndromes has been equally matched by delineation of genetic defects of the
hard and ...


Author: Carlos F. Salinas

Publisher: Alan R. Liss

ISBN: UOM:39015057727268

Category: Dentistry

Page: 200

View: 649

Neurodevelopmental Disabilities

Simpson JL , Graham JM , Samango - Sprouse C , Swerdloff R ( 2005 )
Klinefelter syndrome . In : Cassidy SB , Allanson JE ( eds ) Management of
Genetic Syndromes , 2nd edn . Hoboken , New Jersey : Wiley - Liss , pp 323 –
333 . Slager RE ...


Author: Michael Shevell


ISBN: NWU:35557000178424

Category: Developmental disabilities

Page: 492

View: 952

"Neurodevelopmental disabilities are a common problem in child health. This book takes a comprehensive approach to addressing these often challenging clinical diagnoses. In particular, it focuses on the two most common of childhood neurodevelopmental disabilities: global developmental delay and developmental language impairment. It seeks to put forward our present conceptualization of these entities as well as their proper evaluation and assessment and diagnosis from a variety of perspectives. It also provides details on our current understanding of the scientific basis of these disorders and their underlying causes. Issues related to medical management, rehabilitation, and eventual outcomes are also addressed in a detailed way. The book has wide appeal to those in paediatrics, developmental paediatrics, child neurology, and paediatric rehabilitation. Its geographic appeal includes both developed and developing nations as some chapters are devoted to the particular issues faced in underdeveloped countries. The book's focus on both clinical and scientific aspects is invaluable in this field. It also provides extensive information in a single source relating to often-overlooked areas such as medical management, rehabilitation, public policy, and ethics."--Publisher's website.

Subject Index of Current Research Grants and Contracts Administered by the National Institute of General Medical Sciences

... and consequences of genetic counselling LIPOCHONDRODYSTROPHY
Treatment of the mucopolysaccharidoses by ... 02 Genetic control of mammalian
cell POIGM - 19443 - 03 0006 Problems in clinical genetics diseases metabolism


Author: National Institute of General Medical Sciences (U.S.). Division of Research Grants


ISBN: UOM:39015072165361

Category: Medicine

Page: 331

View: 520

Core Curriculum for Neonatal Intensive Care Nursing

Allanson, J.E. and Cassidy S.B. (Eds.): Management of genetic syndromes. New
York, 2001, Wiley-Liss. In addition, there are many online genetic resources
available including: * Online Mendelian Inheritance in Man (OMIM) ...


Author: Association of Women's Health, Obstetric, and Neonatal Nurses

Publisher: Saunders

ISBN: UOM:39015058868566

Category: Medical

Page: 1007

View: 632

Presented in a concise and consistent outline format, each chapter in this valuable reference walks readers through the neonatal condition including the definition, etiology, pathophysiology, signs and symptoms, diagnostic tests, treatments, and outcomes.

Essential Adolescent Medicine

SYNDROME OR CONDITION In this section ... for inclusion in this section are
those that are either discussed in more detail in Management of Genetic
Syndromes 39 or ...


Author: Donald Greydanus

Publisher: McGraw-Hill Professional

ISBN: UOM:39015062419901

Category: Medical

Page: 805

View: 409

This book sets forth the principles of clinical and psychosocial adolescent medicine clearly and concisely, at a price the market will bear. Includes numerous tables, charts, lists, and algorithms for easy access to the spectrum of clinical considerations.

Neonatal Dermatology

P63 gene mutations and human developmental syndromes . Am J Med Genet ...
Buss PW , Hughes HE , Clarke A . Twenty - four cases of the EEC syndrome :
Clinical presentation and management . ... Management of genetic syndromes .


Author: Lawrence F. Eichenfield

Publisher: Saunders

ISBN: UOM:39015076180002


Page: 567

View: 352

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.

Encyclopedia of Endocrine Diseases A D

Overgrowth : Section VI – Genetic syndromes and other disorders associated
with overgrowth . Clin . Pediatr . 36 , 155-173 . Weksberg , R. , and Shuman , C. (
2001 ) . Beckwith - Wiedemann syndrome . In “ Management of Genetic
Syndromes ...


Author: Luciano Martini

Publisher: Academic Press

ISBN: 0124755712

Category: Endocrine glands

Page: 2400

View: 788

The Encyclopedia of Endocrine Diseases is an authoritative reference developed by 16 international experts who recruited the world's top scientists for contributions. This stellar reference work focuses on nearly 500 endocrine diseases addressing everything from acromeglay, diabetes, hypertension, osteoporosis, thyroid disease, Von Hippel-Lindau Disease, unexplained weight loss, to androgen related disorders. This encyclopedia is an essential addition to any library collection written to be accessible for both the clinical and non-clinical reader. Associate Editors include: Eli Y. Adashi, John P. Bilezikian, George P. Chrousos, Junichi Fukata, Julianne Imperato-McGinley, Hiroo Imura, Antonio Liuzzi, Frank L. Moore, Daniel Porte, Jens F. Rehfeld, Ellis Samols, Gustav Schonfeld, Pierre C. Sizonenko, Wilmar M. Wiersinga. Also available online via ScienceDirect featuring extensive browsing, searching, and internal cross-referencing between articles in the work, plus dynamic linking to journal articles and abstract databases, making navigation flexible and easy. For more information, pricing options and availability visit * Includes nearly 500 entries addressing all aspects of endocrine diseases * More than 800 eminent researchers contributed from 25 different countries around the world * More than 900 figures and 450 tables displayed * Comprehensive glossary comprising 1500 definitions * The Editor-in-Chief is former editor of the journal Frontiers in Neuroendocrinology and has contributed to over 40 books in the field of endocrinology.

Folia Phoniatrica Et Logopaedica

A major strength of the book is its multidisciplinary treatment of genetic hearing
loss . ... to differentially diagnose genetic syndromes , part III examines the more
common syndromes with associated hearing loss , including Usher ,
Waardenberg ...




ISBN: NWU:35556035766336

Category: Speech disorders


View: 363

Textbook of Medicine

In Bloom's syndrome , SCE occur with increased frequency even without known
exposure to DNA damaging agents , whereas in Fanconi's anemia SCE ...
born .


Author: Russell La Fayette Cecil


ISBN: UOM:39015010119470

Category: Internal medicine

Page: 1892

View: 412

Current Management in Child Neurology

MUSCULAR DYSTROPHY AND MYOPATHY This chapter reviews inherited and
acquired diseases of muscle presenting ... Connective tissue disorders ( e.g. ,
Ehlers - Danlos syndrome ) and genetic syndromes with a central nervous
system ...


Author: Bernard L. Maria

Publisher: B C Decker Incorporated

ISBN: UOM:39015053181684

Category: Medical

Page: 562

View: 264

(Producer) The disk contains the complete text and illustrations of the book in fully searchable PDF files. Also includes links to Child Neurology web sites and access to the National Library of Medicine.

Readings in Personnel and Human Resource Management

Accordingly , genetic screening is based on the premise that individuals have
different genetic markers and some of these differences can be used to predict
predisposition to occupational diseases . There is some evidence that certain ...


Author: Randall S. Schuler

Publisher: Thomson Learning

ISBN: UOM:35128000952133

Category: Business & Economics

Page: 600

View: 641

Anesthetic and Obstetric Management of High risk Pregnancy

A more complete discussion of genetic syndromes and their anesthetic
implications can be found in several recent reviews of this subject . 16 , 17
Molecular techniques for genetic diagnosis Rapid developments in molecular
biology have ...


Author: Sanjay Datta

Publisher: Mosby Incorporated

ISBN: UOM:39015037284869

Category: Medical

Page: 637

View: 661

A Brandon Hill Title

Pharmacology and Medicines Management for Nurses E Book

aOther types include diabetes due to glucocorticoid therapy, pancreatic
destruction, recognised genetic syndromes and gestational 347 Subject area
Table 16.9 Areas to cover in a teaching. Type 1 diabetes (insulin-dependent
diabetes) Table ...


Author: George Downie

Publisher: Elsevier Health Sciences

ISBN: 9780702033339

Category: Medical

Page: 576

View: 870

This title is directed primarily towards health care professionals outside of the United States. An understanding of medicines and their effects on patients remains a crucial area of nursing knowledge. This book provides a thorough foundation upon which nurses can build their clinical experience to achieve competence. It not only provides information on the actions of drugs on the body but also gives clear guidance on the practical aspects of medicines management in both hospital and community. Organisation of the text broadly follows the British National Formulary for ease of use. Management of medicines linked to their therapeutic use Medicine administration linked with relevant care of patients where possible Basic principles of clinical pharmacology underpin the therapeutic chapters A chapter on the role of patients and carers is included All content revised in the light of changes in drug therapy, clinical practice and medicines management including nurse prescribing Key objectives for each chapter Self-assessment exercises with answers More detail relating to palliative care; nurse prescribing A new section on Intensive Therapy Totally redesigned in two colours with improved design and page layout, and better illustrations

Wong s Nursing Care of Infants and Children

Intrauterine growth retardation ( IUGR ) , for example , can occur with many
genetic syndromes , such as Down ... and the technical advances being made ,
an increasing number of genetic disorders are becoming amenable to treatment .


Author: Donna L. Wong

Publisher: Mosby Incorporated

ISBN: PSU:000051344634

Category: Medical

Page: 1994

View: 363

CD Companion contains a variety of activities to enhance learning ... also included are Nursing Care Plans to build, individualize and print out.

Medical Management of Type 2 Diabetes

Genetic defects of B - cell function • Chromosome 20 , hepatic nuclear factor (
HNF ) - 4a ( MODY1 ) • Chromosome 7 ... Leprechaunism • Rabson - Mendenhall
syndrome • Lipoatrophic diabetes • Others Diseases of the exocrine pancreas ...


Author: Charles F. Burant

Publisher: Amer Diabetes Assn

ISBN: UOM:39015060853499

Category: Health & Fitness

Page: 141

View: 478

A complete reference book on type 2 diabetes for health care professionals More than 18 million people are living with diabetes, and the majority are type 2--a group particularly at risk for cardiovascular complications. Health care practitioners will find this comprehensive resource for type 2 indispensable, providing the most up-to-date guidelines for diagnosis, treatment, glucose control, and cardiovascular disease risk factor control as well as nutrition and exercise. Professionals will find the array of treatment options for all stages in the progression of type 2 diabetes particularly useful in self-management and behavior modification strategies. This reference is divided into five parts: Diagnosis and classification Pathogenesis Tools of therapy: nutrition, physical activity, pharmacology Strategies for behavior change Complications This is a complete reference resource for diagnosing and treating people with type 2 that includes a book and CD.

Genetic Malformation Syndromes in Clinical Medicine

CASE REPORT termined by a single autosomal recessive gene , but is is much
too common to represent the mutation rate at a single locus , as in the Apert
syndrome ... Operant methods may be useful in handling behavioral problems .


Author: William L. Nyhan


ISBN: UOM:39015005996023

Category: Abnormalities, Human

Page: 499

View: 388

The Physiological Management of Diabetes in Children

The concept of genetic heterogeneity , i . e . , that diabetes is not one but several
diseases with many different causes ... of rare genetic syndromes with associated
diabetes ; and 3 ) the presence of genetic heterogeneity in animal models .


Author: Robert L. Jackson


ISBN: UOM:39015009570246

Category: Diabetes

Page: 331

View: 793

Risk Management in Orthodontics

Since effective treatment is not available , reconstruction of juvenile rheumatoid
arthritis or condylysis is usually delayed until the degenerative condition
stabilizes . Malocclusion in genetic syndromes such as achondroplasia27 , 28
has been ...


Author: Thomas M. Graber

Publisher: Quintessence Publishing (IL)

ISBN: UOM:39015058871867

Category: Medical

Page: 238

View: 455

Reviews current knowledge on the association between orthodontic treatment procedures and materials and several adverse tissue or system reactions. Also extensively explores risk management. Summarizes various cases tried in the past and tells the dos and don'ts of treating patients.