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…
PEDIATRICS
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…
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…
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…
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…
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…
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…
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…
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…