Traumatic brain injury (TBI) causes two injury types: primary and secondary. In infants and young children, nonaccidental TBI is an important etiology of brain injury and is commonly a repetitive insult. TBI is by far the most common cause of acquired brain injury (ABI) in children and is the most common cause of death in cases of childhood injury. In 2009, the Pediatric Emergency Care Applied Research Network (PECARN) issued validated prediction rules to identify children at very low risk of clinically important TBI, which is defined as TBI requiring neurosurgical intervention or leading to death. The range of outcomes in pediatric TBI is very broad, from full recovery to severe physical and/or intellectual disabilities. Children and adolescents who have suffered a TBI are at increased risk of social dysfunction. Studies show that these patients can have poor self-esteem, loneliness, maladjustment, reduced emotional control, and aggressive or antisocial behavior.

The electrical discharge of neurons associated with seizure activity stimulates a marked rise in cerebral metabolic activity. Estimates from animal experiments indicate that energy utilization during seizures increases by more than 200", while tissue adenosine triphosphate (ATP) levels remain at more than 95" of control, even during prolonged status epilepticus. The brain generally withstands the metabolic challenge of seizures quite well because enhanced cerebral blood flow delivers additional oxygen and glucose. Mild to moderate degrees of hypoxemia that commonly accompany seizures are usually harmless. However, severe seizures and status epilepticus can sometimes produce an imbalance between metabolic demands and cerebral perfusion, especially if severe hypotension or hypoglycemia is present. A marked increase in glutamate release, which occurs during a prolonged seizure, is likely to result in the activation of all types of glutamate receptors. Although kainic acid produces seizures in the immature brain, it produces little cytotoxicity.

Recent advancements in molecular genetics have expanded our understanding of the etiology of many neurological diseases and neurodevelopmental abnormalities. Having a comprehensive understanding of genetics is essential in treating patients with metabolic epilepsies. Genetic counseling has been defined as a process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. Some of the components of a genetic counseling interaction include interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; education about inheritance, testing, management, prevention, resources, and research; and counseling to promote informed choices and adaptation to the risk or condition. The genetic counselor may also educate patients and their families about the underlying genetics of their epilepsy and the relevance of a genetic cause of epilepsy for family members, including recurrence risk, reproductive options and the possible teratogenic effect of antiepileptic drugs.

This chapter presents a brief review of the enzymes, transporters, and cofactor producers of the urea cycle. Seizures have long been associated with urea cycle disorders (UCDs), thought to be caused by high levels of ammonia. Furthermore, the brain damage obtained during metabolic crisis has been thought to damage critical structures, leading to epilepsy after the conclusion of the crisis. The first and most critical step of successful treatment of UCDs is recognition. Neurologic monitoring is an essential part of the emergency management of UCDs. The neurological abnormalities observed in patients with urea cycle defects are vast. Controlling ammonia levels by dialysis and complementary medication are needed. EEG monitoring should be initiated early, as this may be very useful for clinical management and indication of untreated metabolic crises. Furthermore, aggressive treatment of clinical and subclinical seizure activity may be helpful in optimizing outcomes for these patients.

Clinical neurophysiology (CNP) is a time-honored medical specialty that continues to make great strides, bolstered by rapid advances in neuroscience, biomedical engineering, and computer technology. It encompasses a wide range of methods and techniques for recording, presenting, and analyzing neurophysiologic signals in order to diagnose sensory, motor, autonomic, and central nervous system disorders. Testing performed in CNP or procedures used in current neurological practice include a variety of modality-specific and mixed-modality tests. Modality-specific CNP tests are performed to assess specific functional modalities using biomedical instruments that measure changes in neurophysiologic signals that occur spontaneously or with activation. Mixed-modality CNP tests utilize two or more test modalities to assess complex states (e.g., sleep, coma), to track multiple physiologic parameters, or to obtain more accurate results. CNP tests are classified based on functional anatomy or neural pathway tested. This chapter discusses artifact recognition and presents sources of artifacts in clinical neurophysiologic testing.

Despite treatment advances in the world of oncology, problems with sexuality, intimacy, and fertility persist for many women and men treated for cancer. Life expectancy of cancer patients, both young and old, has significantly increased due to advances in treatments of malignant diseases. Consequently, medical attention has expanded its focus to improving the quality of life of patients who have undergone cancer treatment. Sexual function and feeling healthy enough to be a parent represent two of the strongest predictors of emotional well-being in cancer survivors, and parenthood can represent a return to normalcy, contributing happiness and life-fulfillment. Often, cancer survivors fear that their disease or treatment history may adversely affect offspring conceived posttreatment, contributing risk for congenital anomalies, impaired growth and development, or even for malignancy. This chapter provides physical psychosocial spiritual dimensions of the fertility issues or symptom followed by its nonpharmacological and pharmacological treatment.

In human cancer, the role of genetic mutations, epigenetic alterations, and cellular repair mechanisms are becoming increasingly apparent. Recent studies have elucidated significant variations of the genetic codes that underpin cancer development in a variety of cancer subtypes. Genetic variations provide a backbone upon which cancer cells can adapt to overcome both intrinsic and extrinsic mechanisms designed to limit the growth of abnormal cells. This chapter provides an overview of the types of mutations, various epigenetic modifications, DNA repair mechanisms, and their relationship to the development of cancer, as well as various techniques utilized for the detection of these genetic alterations in cancer. With the development of new, advanced, and sensitive molecular techniques like next-generation sequencing and digital droplet polymerase chain reaction, our understanding of cancer biology is rapidly developing, and a critical appreciation and knowledge of these cancer-associated changes will likely lead to continued development of more effective therapies.