PEDIATRICS

Abnormal Gait, Including Refusal to Walk

Mar 23, 2021 by in PEDIATRICS Comments Off on Abnormal Gait, Including Refusal to Walk

CHAPTER 16 ABNORMAL GAIT, INCLUDING REFUSAL TO WALK JEANINE RONAN DEFINITION OF THE COMPLAINT Children refuse to walk because of pain, neuromuscular weakness, and certain mechanical factors. The list of…

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Abdominal Pain

Mar 23, 2021 by in PEDIATRICS Comments Off on Abdominal Pain

CHAPTER 7 ABDOMINAL PAIN MARINA CATALLOZZI DEFINITION OF THE COMPLAINT Abdominal pain is a common complaint in pediatrics and has an extensive list of possible causes, not all gastrointestinal in…

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Pallor

Mar 23, 2021 by in PEDIATRICS Comments Off on Pallor

CHAPTER 10 PALLOR STEPHEN LUDWIGBRANDON C. KU DEFINITION The complaint of pallor indicates a perceived decrease in rubor in the skin and mucous membranes of a child, which is associated…

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Decreased Activity Level

Mar 23, 2021 by in PEDIATRICS Comments Off on Decreased Activity Level

CHAPTER 2 DECREASED ACTIVITY LEVEL MATTHEW TESTNATHAN TIMM DEFINITION OF THE COMPLAINT The term decreased activity level describes a wide spectrum of existence ranging from boredom to coma. The diagnostic…

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Altered Mental Status

Mar 23, 2021 by in PEDIATRICS Comments Off on Altered Mental Status

CHAPTER 8 ALTERED MENTAL STATUS NATHAN TIMM DEFINITION OF THE COMPLAINT Altered mental status is a broad, nonspecific term that includes dysfunction of cognition, attention, awareness, or consciousness. Although not…

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Preimplantation Genetic Testing

Jan 5, 2020 by in PEDIATRICS Comments Off on Preimplantation Genetic Testing

Abbreviations aCGH Array comparative genomic hybridization AF Amniotic fluid CRISPR Clustered regularly interspaced short palindromic repeat CVS Chorionic villus sampling FISH Fluorescence in situ hybridization HDR Homology directed repair ICM…

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Fetal Treatment of Genetic Disorders

Jan 5, 2020 by in PEDIATRICS Comments Off on Fetal Treatment of Genetic Disorders

In Utero Stem Cell Transplantation In utero hematopoietic stem cell transplantation (IUHCT) is a promising approach to treat congenital genetic disorders. IUHCT offers multiple therapeutic advantages over postnatal bone marrow…

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Chromosomal Microarray Analysis

Jan 5, 2020 by in PEDIATRICS Comments Off on Chromosomal Microarray Analysis

Introduction For more than half a century, classical cytogenetics was the standard of care in the diagnosis of developmental disabilities and congenital anomalies. More recently, the introduction of microarray technology…

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Prenatal Diagnostic Testing

Jan 5, 2020 by in PEDIATRICS Comments Off on Prenatal Diagnostic Testing

Introduction Testing is available for an ever-increasing number of genetic disorders. Although prenatal testing originally focused primarily on Down syndrome, it is now possible to detect a broad range of…

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Exome and Genome Sequencing

Jan 5, 2020 by in PEDIATRICS Comments Off on Exome and Genome Sequencing

Introduction Current standards for prenatal genetic screening and testing are highly focused on detection of aneuploidies that are compatible with live birth, including trisomy 21, which affects 1:600 newborns overall…

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