Carrier Screening for Genetic Conditions
Introduction Prenatal genetic carrier screening has evolved over a period of about 25 years. Advances in technology and health policy have ushered this evolution. With these changes, new terminology has…
PEDIATRICS
Principles of Genetic Counseling
Overview Genetic counseling is a process of evaluating family history and medical information to advise patients of the risk of a genetic condition. This can have both a diagnostic and…
Cytogenetics: Part 2, Structural Chromosome Rearrangements and Reproductive Impact
What Are Structural Chromosome Rearrangements and How Frequently Are They Seen in the General Population? As part of cytogenetic testing, the structure of each chromosome is assessed for (1) evidence…
Cytogenetics: Part 1, General Concepts and Aneuploid Conditions
What Is Cytogenetics? Cytogenetics is the study of chromosomes and the clinical application of chromosome analysis for diagnostic purposes. This chapter will deal with traditional cytogenetics, which involves examination of…
Principles of Genetics and Genomics
Introduction Few areas in medicine have seen such rapid and dramatic advances in knowledge and technology as the field of genetics has over the past two decades. Breakthroughs such as…
Non-Mendelian Genetics
Introduction Mendel wrote in 1865 that when crossing plants, “numerous experiments have demonstrated that the common characters are transmitted unchanged to the hybrids and their progeny.” Mendel described that “common…
Pediatric Hand Burn Therapy Chapter
Introduction Burn injuries are common in the pediatric population, representing the fourth leading cause of emergency department visits in the western world. Burns affecting the hand present a significant challenge…
Pediatric Sports Injuries: Little League Elbow, Osteochondritis Dissecans of the Elbow, Gymnast Wrist
Introduction Pediatric sports are a cornerstone of childhood in the United States. According to a 2008 report compiled by the Women’s Sports Foundation, approximately 69% of girls and 75% of…
Surgical and Therapeutic Management of Volkmann’s Ischemic Contracture and Free Functional Muscle Transfer
Introduction Volkmann’s ischemic contracture is the outcome of prolonged muscle and nerve ischemia resulting most commonly from delayed or untreated acute compartment syndrome. Increased compartment pressures decrease capillary perfusion to…
Amputations and Replants
Introduction Traumatic amputations are a challenge at any age, often requiring extensive input from the medical and therapy team to provide the patient with the optimal functional outcome. Therapists are…