This chapter reviews prevention, including genetic counseling. It discusses genetic testing for diagnosis as opposed to screening and the treatment for genetic disease. Methods of prevention begin with education of the public and health care professionals and identification of those at risk. Genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. The malignant cells often exhibit aneuploidy as well as translocations that are found only within the tumor cells. Genetic errors that arise from specific cell lines are somatic mutations. It is suggested that there is a thorough collection of family, genetic, and medical history for children entering the adoption process. Nurses may play a variety of roles in genetic counseling that reflect their preparation, area of practice, primary functions, and setting. The chapter explains the incidence of chromosome abnormalities.
Your search for all content returned 6,823 results
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.
This chapter opens with the challenge Nightingale and her close colleagues faced in establishing nursing as a profession when the ethical standards of the existing (secular) nurses were (generally) so low. The ethical issues she had to deal with in her own school, soon after it opened, are discussed three thorny problems with appointments. Anyone reading Nightingale’s writing on nursing will be struck by how often and how forcefully she insisted on high ethical standards. The reason for the emphasis on ethical standards is obvious enough in the task Nightingale faced in raising the new profession from its disreputable past. The International Council on Nursing (ICN) established its Code of Ethics in 1953, again based on Nightingale principles. It identified four responsibilities: to promote health, to prevent illness, to restore health, and to alleviate suffering. The code asks nurses not only to act ethically themselves, but to challenge unethical practices.
Delirium, also known as acute confusional state, organic brain syndrome, brain failure, and encephalopathy, is a common occurrence among medical and surgical patients and causes extensive morbidity and mortality. This chapter provides an updated review of delirium, including pathophysiological correlates, clinical features, diagnostic considerations, and contemporary treatment options. The defining features of delirium include an acute change in mental status characterized by altered consciousness, cognition, and fluctuations. The chapter explores the risk factors for delirium. These can be divided into two categories: predisposing factors and precipitating factors. Imbalances in the synthesis, release, and degradation in gamma-aminobutyric acid (GABA), glutamate, acetylcholine, and the monoamines have also been hypothesized to have roles in delirium. GABA is the primary inhibitory neurotransmitter in the central nervous system (CNS) and medications such as benzodiazepines and propofol have known actions at GABA receptors and have been associated with delirium.
The researchers were specifically interested in whether they would get more incorrect responses depending on the type of sentence. From a certain perspective, passive sentences are more complicated than active sentences and so perhaps it is the case that passives are more difficult simply because they are more complicated. It appears that the important difference between subject cleft and actives on one hand, and passives on the other, is that the order of the roles is reversed between them: in active sentences, the agent comes first. Indeed, there is a growing body of evidence that languages allow English speakers to structure their utterances in a way that can flag certain parts of the sentence as particularly important or worthy of special attention. Recently, psycholinguists have been interested, too, in how information structure influences language processing.Source:
The study of the properties of language can be divided up into roughly five, somewhat overlapping categories: sound system, word structure, sentence structure, meaning, and real-world use. In spoken languages, segments are sounds—each language has a set of sounds that are produced by changing the positions of various parts of the vocal tract. The sound system of language is actually studied in two main parts: phonetics, phonology. Phonemes can be combined to make words, and words themselves have an internal structure and can even be ambiguous based on this structure. Syntax is the study of how sentences are formed. There are two noun phrases (NPs) in the sentence—the artist and a paintbrush. The field of semantics is concerned with meaning in language and can be divided into two major parts: lexical and propositional.Source:
This chapter examines disability identity as a unique area in which the clinician working with individuals with brain injuries must become culturally competent. It begins with an overview of the disability rights movement and its influence on disability identity as a construct. Legislative and regulatory scaffolding for societal responsiveness to and acceptance of individuals with disability exists, but it requires further refinement. Social agencies have been created to support the process of adaptation to disability culture and are attempting to foster development of disability identity through networking resources for employment and socialization. The chapter then discusses critical issues in cultural competence and how these intersect with ethical practice in working with individuals and families with neurorehabilitation needs. It concludes with suggestions regarding cultural competence that transcend individual diagnoses.
Primary progressive aphasia (PPA) is the term applied to a clinical syndrome characterized by insidious progressive language impairment that is initially unaccompanied by other cognitive deficits. This chapter describes several variants of PPA and more than one etiology. It explains three main variants of PPA, namely, semantic Variant of PPA (svPPA), nonfluent/agrammatic variant of PPA (nfvPPA) and logopenic variant of PPA (lvPPA), and also describes criteria for their diagnoses. The defining symptom of PPA is the presence of a language impairment for at least 2 years in the absence of any other significant cognitive problem. Assessment of other cognitive domains is challenging because many tests of memory, attention, executive functioning, and visual-spatial skills rely on language processes in some manner. There are no drug therapies proven to arrest progression of signs and symptoms of PPA due to frontotemporal lobar dementia (FTLD) or Alzheimer’s disease (AD) pathologies.
Dementia is an umbrella term for conditions such as Alzheimer’s disease (AD), dementia with Lewy bodies (DLB), vascular dementia (VaD), and frontotemporal dementia (FTD). Under that umbrella, FTD, also known as frontotemporal lobar degeneration (FTLD), can be further categorized to define a group of neurodegenerative disorders resulting from a progressive deterioration of the cells in the anterior temporal and/or frontal lobes of the brain. More specifically, ventromedial-frontopolar cortex is identified with metabolic impairment in FTD. This chapter elaborates on the history, epidemiology, pathophysiology, clinical features, treatment, and outcomes of FTD. The history and background section of each of the FTD categories highlights the evolution of the disease conceptualization. The FTD subtypes are conceptualized in three categories: neurobehavioral variant, motor variant, and language variant. The chapter illustrates the features of all three categories of FTD.
The concept of Mild cognitive impairment (MCI) makes a lot of sense in that individuals are typically not “normal” one day and “demented” the next. In theory, especially for progressive neurodegenerative conditions, such as Alzheimer’s disease (AD), frontotemporal dementia (FTD), the development of dementia may take months or years. The clinical syndrome of MCI due to AD can be identified via a neuropsychological evaluation or less-sensitive cognitive screening measures. Much of what we are learning about MCI, and therefore refining its diagnostic criteria, is coming from two large-scale studies of cognition and aging: Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Australian Imaging, Biomarkers and Lifestyle (AIBL). According to the most recent research diagnostic criteria for MCI due to AD, evidence of beta-amyloid deposition, neuronal injury, and/or other biochemical changes needs to be seen to increase confidence of the etiology of MCI. Cholinesterase inhibitors remain the primary pharmacological treatment for AD.