Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2013 Edition PDF Download

Author:
Publisher: ScholarlyEditions
ISBN: 1481657992
Category : Medical
Languages : en
Pages : 363

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Book Description
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyEditions™ book that delivers timely, authoritative, and comprehensive information about Diagnosis and Screening. The editors have built Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Diagnosis and Screening in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Congenital, Hereditary, and Neonatal Diseases and Abnormalities: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Author: David W. Kimberlin
Publisher:
ISBN: 9781581109269
Category : Children
Languages : en
Pages : 0

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Book Description
"The AAP's authoritative guide to the manifestations, etiology, epidemiology, diagnosis, and treatment of more than 200 childhood conditions." -- Provided by publisher.

Author: James R. Lupski
Publisher: Springer Science & Business Media
ISBN: 1597450391
Category : Medical
Languages : en
Pages : 419

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Book Description
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Author: Muntaser E. Ibrahim
Publisher: Cambridge University Press
ISBN: 1107072026
Category : History
Languages : en
Pages : 351

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Book Description
A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.

Author: Ellen P. Tappero, DNP, RN, NNP-BC
Publisher: Springer Publishing Company
ISBN: 0826121934
Category : Medical
Languages : en
Pages : 392

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Book Description
Physical Assessment of the Newborn, 5th Edition, is a comprehensive text with a wealth of detailed information on the assessment of the newborn. This valuable and essential resource illustrates the principles and skills needed to gather assessment data systematically and accurately, and also provides a knowledge base for interpretation of this data. Coverage addresses: gestational assessment, neurologic assessment, neonatal history, assessment of the dysmorphic infant, and systemic evaluation of individual body systems, as well as key information on behavioral and pain assessment, including the use of specific tools with various groups ranging from term to extremely preterm infants. Numerous tables, figures, illustrations, and photos, many of them in full color, are a major strength that enhances the book’s usefulness as a clinical resource. The text is an excellent teaching tool and resource for anyone who performs newborn examinations including nurses, neonatal and pediatric nurse practitioners, nurse-midwives, physicians and therapists. It can also serve as a core text for any program preparing individuals for advanced practice roles in neonatal care. KEY FEATURES: An authoritative and renowned text that comprehensively addresses all key aspects of newborn assessment Provides a well-ordered evaluation of individual body systems. Assists the practitioner in identifying infant state, behavioral clues, and signs of pain, facilitating individualized care. Comprehensively addresses the tremendous range of variation among newborns of different gestational ages. The content is amplified by numerous photos and illustrations, many in full color Includes Power Point slides and an Image Bank

Author: Robert Black
Publisher: World Bank Publications
ISBN: 1464803684
Category : Medical
Languages : en
Pages : 419

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Book Description
The evaluation of reproductive, maternal, newborn, and child health (RMNCH) by the Disease Control Priorities, Third Edition (DCP3) focuses on maternal conditions, childhood illness, and malnutrition. Specifically, the chapters address acute illness and undernutrition in children, principally under age 5. It also covers maternal mortality, morbidity, stillbirth, and influences to pregnancy and pre-pregnancy. Volume 3 focuses on developments since the publication of DCP2 and will also include the transition to older childhood, in particular, the overlap and commonality with the child development volume. The DCP3 evaluation of these conditions produced three key findings: 1. There is significant difficulty in measuring the burden of key conditions such as unintended pregnancy, unsafe abortion, nonsexually transmitted infections, infertility, and violence against women. 2. Investments in the continuum of care can have significant returns for improved and equitable access, health, poverty, and health systems. 3. There is a large difference in how RMNCH conditions affect different income groups; investments in RMNCH can lessen the disparity in terms of both health and financial risk.

Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678

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Book Description
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

Author: K. Tada
Publisher: Springer Science & Business Media
ISBN: 3662031477
Category : Medical
Languages : en
Pages : 421

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Book Description
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Author: Xiaoyi Raymond Gao
Publisher: Academic Press
ISBN: 0128167270
Category : Science
Languages : en
Pages : 386

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Book Description
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Author: Agency for Healthcare Research and Quality/AHRQ
Publisher: Government Printing Office
ISBN: 1587634333
Category : Medical
Languages : en
Pages : 385

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Book Description
This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.