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Pediatric Genetics, An Issue of Pediatric Clinics of North America
- 1st Edition, Volume 70-5 - September 14, 2023
- Editor: Anne Slavotinek
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 9 3 9 0 3 - 4
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 3 9 0 4 - 1
In this issue, guest editors bring their considerable expertise to this important… Read more
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Request a sales quoteIn this issue, guest editors bring their considerable expertise to this important topic.
Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice.
Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
- Cover image
- Title page
- Table of Contents
- Copyright
- CME Accreditation Page
- Contributors
- Forthcoming Issues
- Foreword
- Preface
- Genetics in Pediatric Practice: From Baby Steps to Running Fast
- Key points
- Introduction
- Genetic testing: more comprehensive and more rapid
- Challenges for implementing genetic testing
- Initiating genetic testing is not just for genetics professionals
- Pediatricians and geneticists: learning on the job
- What of the future for genetics in pediatric care?
- Brief summary of important points: objective points to remember
- Clinics care points
- Genetics 101: When to Refer
- Key points
- Introduction
- Indications for referral
- Summary
- Clinics care points
- Disclosure
- Panels, Exomes, Genomes, and More—Finding the Best Path Through the Diagnostic Odyssey
- Key points
- Current testing modalities
- Navigating the diagnostic odyssey
- The future: new and emerging genetic modalities
- Summary
- Clinics care points
- Funding
- Disclosures
- Author contributions
- Supporting Parents Throughout the Genetic Testing Process and New Diagnosis
- Key points
- Introduction
- Before the genetic diagnosis: recognition and referrals
- Receiving the genetic diagnosis: disclosure of results
- After the diagnosis: adapting and adjusting
- Nondiagnostic genetic testing
- Ethnocultural sensitivity
- Discussion
- Summary
- Clinics care points
- Disclosures
- Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics
- Key points
- Introduction
- Summary
- Clinics care points
- Disclosures
- Conflicts of interest
- Shedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type I
- Key points
- Introduction/history/definitions/background
- World-wide incidence, diagnostic criteria, and tumor manifestations
- Life expectancy and predisposition to malignancy
- Related disorders: the RASopathies
- Mouse models of neurofibromatosis type I
- Clinical implications of MEK inhibitors in neurofibromatosis type I
- The role of MEK inhibitors in other RASopathies
- Summary and future directions
- Clinics care points
- Disclosure
- Support
- Shedding New Light: Novel Therapies for Achondroplasia and Growth Disorders
- Key points
- Introduction
- Physiology at the growth plate
- Fibroblast growth factor receptor 3-related growth disorders
- Management
- Pharmacotherapy
- Discussion
- Summary
- Clinics care points
- Disclosure
- Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease
- Key points
- History
- Clinical
- Genetics
- Previous trials
- Summary
- Clinics care points
- Disclosures
- Recognizing and Managing a Metabolic Crisis
- Key points
- Introduction
- Treatment of metabolic crisis: stop the precursor, reverse catabolism, and start detoxification
- Summary
- Clinics care points
- Disclosure
- Current Practices in Pharmacogenomics
- Key points
- Introduction
- Cases and discussion
- Clinics care points
- Disclosure
- Newborn Screening
- Key points
- Introduction to newborn screening
- Disorders on the newborn screen
- Practical considerations in newborn screening
- Summary
- Disclosure
- Ethical Aspects of Pediatric Genetic Care: Testing and Treatment
- Key points
- Introduction
- Common ethical issues in pediatric genetics
- Genetics and the family
- Treatments for genetic disease
- End-of-life issues for a child with a genetic condition
- Summary
- Clinics care points
- Disclosure
- Essential Pieces to the Genetics Puzzle: Family History and Dysmorphology Exam
- Key points
- Introduction
- Discussion
- Summary
- Clinics care points
- Disclosure
- No. of pages: 240
- Language: English
- Edition: 1
- Volume: 70-5
- Published: September 14, 2023
- Imprint: Elsevier
- Hardback ISBN: 9780323939034
- eBook ISBN: 9780323939041
AS
Anne Slavotinek
Affiliations and expertise
Professor of Clinical Pediatrics, Director, Medical Genetics and Genomics, Section Chief, Medical Genetics, Benioff Children’s Hospital Oakland, Program Director, Medical Genetics Residency, Division of Genetics, Department of Pediatrics, University of California, San Francisco, UCSF Benioff Children's Hospital