Achieving Child Health Equity
Injustice anywhere is a threat to justice everywhere. We are caught in an inescapable network of mutuality, tied in a single garment of destiny. Whatever affects one directly, affects all indirectly. —Martin Luther King Jr, Letter from Birmingham, Alabama jail, April 16, 1963. (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 7, 2023 Category: Pediatrics Authors: Tina L. Cheng, Monica J. Mitchell, Robert S. Kahn Tags: Preface Source Type: research
Achieving Child Health Equity
PEDIATRIC CLINICS OF NORTH AMERICA (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 7, 2023 Category: Pediatrics Authors: Robert S. Kahn, Monica J. Mitchell, Tina L. Cheng Source Type: research
Copyright
ELSEVIER (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 7, 2023 Category: Pediatrics Source Type: research
Contributors
TINA L. CHENG, MD, MPH (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 7, 2023 Category: Pediatrics Source Type: research
Contents
Tina L. Cheng, Monica J. Mitchell, and Robert S. Kahn (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 7, 2023 Category: Pediatrics Source Type: research
Forthcoming Issues
Pediatric Genetics (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 7, 2023 Category: Pediatrics Source Type: research
Recognizing and Managing a Metabolic Crisis
In some relatively common inborn errors of metabolism there can be the accumulation of toxic compounds including ammonia and organic acids such as lactate and ketoacids, as well as energy deficits at the cellular level. The clinical presentation is often referred to as a metabolic emergency or crisis. Fasting and illness can result in encephalopathy within hours, and without appropriate recognition and intervention, the outcome may be permanent disability or death. This review outlines easy and readily available means of recognizing and diagnosing a metabolic emergency as well as general guidelines for management. Disease-...
Source: Pediatric Clinics of North America - July 6, 2023 Category: Pediatrics Authors: Peter R. Baker Source Type: research
Downstream Assays for Variant Resolution
As the availability of advanced molecular testing like whole exome and genome sequencing expands, it comes with the added complication of interpreting inconclusive results, including determining the relevance of variants of uncertain significance or failing to find a variant in an otherwise suspected specific genetic disorder. This complication necessitates the use of alternative testing methods to gather more information in support of, or against, a particular genetic diagnosis. Therefore, new genome-wide approaches, including DNA epigenetic testing, RNA sequencing, and metabolomics, are increasingly being used to increas...
Source: Pediatric Clinics of North America - July 6, 2023 Category: Pediatrics Authors: Brian J. Shayota Source Type: research
Current Practices in Pharmacogenomics
Pharmacogenomics, where genomic information is used to tailor medication management, is a strategy to maximize drug efficacy and minimize toxicity. Although pediatric evidence is less robust than for adults, medications influenced by pharmacogenomics are prescribed to children and adolescents. Evidence-based guidelines and drug label annotations are available from the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Pharmacogenomics Knowledgebase (PharmGKB). Some pediatric health care facilities use pharmacogenomics to provide dosing recommendations to pediatricians. Herein, we use a case-based approach t...
Source: Pediatric Clinics of North America - July 6, 2023 Category: Pediatrics Authors: Laura B. Ramsey, Cynthia A. Prows, Sonya Tang Girdwood, Sara Van Driest Source Type: research
Genetics in Pediatric Practice
In the last few decades, medical genetics has undergone a revolution because of the development of technologies and informatics approaches that can generate and analyze large amounts of genomic data. Pediatricians have been hugely affected by these changes. The early age of presentation for birth defects and neurocognitive disorders, together with a shortage of trained genetics professionals, has increased consultations for conditions with a genetic cause, not only in pediatric practice but also in other subspecialties. In the future, genetic testing in childhood is likely to include pediatricians, who can initiate testing...
Source: Pediatric Clinics of North America - July 5, 2023 Category: Pediatrics Authors: Anne Slavotinek Source Type: research
Shedding New Light
Achondroplasia is the most common form of disproportionate severe short stature. Management of achondroplasia requires a multidisciplinary approach and has been largely symptomatic for medical complications and psychosocial implications. Increased understanding of genetic and molecular mechanisms of achondroplasia has led to the development of novel disease-modifying drugs. The current drugs under investigation target the growth plate to stimulate chondrocyte growth and development. These include analogs of C-type natriuretic peptide (CNP), FGFR3-selective tyrosine kinase inhibitors, anti-FGFR3 antibodies, aptamers against...
Source: Pediatric Clinics of North America - July 5, 2023 Category: Pediatrics Authors: Nadia Merchant, Andrew Dauber Source Type: research
Ethical Aspects of Pediatric Genetic Care
Pediatric health care providers caring for patients and families with genetic disease will encounter a range of ethical issues. These include traditional pediatric health care issues, such as surrogate decision making and end-of-life care. Genetic testing raises the importance of informed consent for potential risks that move beyond the oft discussed physical risks and into longer term concepts such as psychological impact, privacy and potential discrimination. Predictive testing in childhood also raises questions of whether the child has an autonomy interest in delaying testing until they have decision making capacity to ...
Source: Pediatric Clinics of North America - July 5, 2023 Category: Pediatrics Authors: Kelly E. Ormond, Alessandro Blasimme, Effy Vayena Source Type: research
Essential Pieces to the Genetics Puzzle
Family history and physical exam findings are often the first clues that prompt medical providers to consider clinical genetics evaluation. There is standardized nomenclature for both the pedigree and description of physical features. Systematic evaluation of patients through obtaining family history and careful physical examination is essential to the formulation of a differential diagnosis and plan in the clinical genetics evaluation. The goal of this article is to provide an overview of family history and dysmorphology exam, and their relevance for the clinical genetics evaluation. (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - July 1, 2023 Category: Pediatrics Authors: Allison Tam Source Type: research
A Framework for Pursuing Child Health Equity in Pediatric Practice
This article brings together several disparate frameworks to help outline a needed shift in pediatric practice to ensure child health equity. That shift involves moving from a commitment to equal care delivery to an explicit commitment to equitable health outcomes. The frameworks describe (1) the distinct domains of child health where inequity can be expressed, (2) the shortfalls of equal care delivery in meeting that promise, (3) a coherent typology of the barriers that drive health inequity and (4) a characterization of interventions as downstream, midstream, and upstream in nature. (Source: Pediatric Clinics of North America)
Source: Pediatric Clinics of North America - May 25, 2023 Category: Pediatrics Authors: Robert S. Kahn, Tina L. Cheng, Monica J. Mitchell Source Type: research
Achieving Child Health Equity
Policy solutions to address child health equity, with evidence to support the policies, are presented. Policies address health care, direct financial support to families, nutrition, support for early childhood and brain development, ending family homelessness, making housing and neighborhoods environmentally safe, gun violence prevention, LGBTQ + health equity, and protecting immigrant children and families. Federal, state, and local policies are addressed. Recommendations of the National Academy of Science, Engineering, and Medicine and the American Academy of Pediatrics are highlighted when appropriate. (Source: Pedia...
Source: Pediatric Clinics of North America - May 25, 2023 Category: Pediatrics Authors: Benard P. Dreyer Source Type: research
