The human genome has approximately 20,000 genes that encode the wide variety of proteins found in the human body. Reproductive or germline cells contain 1 copy (N) of this genetic complement and are haploid , whereas somatic (nongermline) cells contain…
Since the completion of the Human Genome Project, we have seen an unprecedented expansion in our understanding of how human health is impacted by variations in genomic sequence and epigenetic , non-sequence-based, changes that affect gene expression. This period has…
Genetic testing involves analyzing genetic material to obtain information related to a person's health status using chromosomal (cytogenetic) analysis (see Chapter 98 ) or DNA-based testing. Diagnostic Testing Diagnostic genetic testing helps explain a set of signs and symptoms of…
The involvement of children and youth in snowmobiling, mountain climbing, winter hiking, and skiing places them at risk for cold injury. Cold injury may produce either local tissue damage, with the injury pattern depending on exposure to damp cold (frostnip,…
Burns are a leading cause of unintentional injury in children, second only to motor vehicle crashes. There has been a decline in the incidence of burn injury requiring medical care that has coincided with a stronger focus on burn treatment…
Drowning is one of the leading causes of childhood morbidity and mortality in the world. Prevention is the most important step to reducing the impact of drowning injury, followed by early initiation of cardiopulmonary resuscitation (CPR) at the scene. Etiology…
High-altitude illness represents a spectrum of clinical entities with neurologic and pulmonary manifestations that overlap in their presentations and share common elements of pathophysiology. Acute mountain sickness (AMS) is the relatively benign and self-limited presentation, whereas high-altitude pulmonary edema (HAPE)…
The term respiratory distress is used to indicate signs and symptoms of abnormal respiratory pattern. A child with nasal flaring, tachypnea, chest wall retractions, stridor, grunting, dyspnea, and wheezing has respiratory distress. Taken together, the magnitude of these findings is…
Shock is an acute process characterized by the body's inability to deliver adequate oxygen to meet the metabolic demands of vital organs and tissues. Insufficient oxygen at the tissue level is unable to support normal aerobic cellular metabolism, resulting in…
Syncope is defined as a sudden transient loss of consciousness with inability to maintain postural tone. The most common cause of syncope in the normal pediatric population is neurocardiogenic syncope (vasovagal syncope, fainting). Vasovagal syncope is classically associated with a…