Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies.

OBJECTIVE: The purpose of this study was to determine the relationship between epilepsy and respiratory chain defects in children with mitochondrial encephalopathies (ME). STUDY DESIGN: We conducted a retrospective review of the medical records of children referred for evaluation of an ME. Only patients assigned a definite diagnosis of ME using modified Walker criteria and with a respiratory chain defect were included. Clinical data pertaining to the ME and epilepsy type were collected. Mitochondria were isolated by subcellular fractionation from a vastus lateralis muscle biopsy and studies were performed using polarographic and spectroscopic techniques for the quantitative determination of NADH and cytochrome components of the respiratory chain. RESULTS: A total of 38 children with ME were identified. Seizures were present in 61%. Sixteen of 23 children with epilepsy (70%) had refractory epilepsy associated with a progressive encephalopathy. Children with epilepsy had a significantly higher incidence of complex I defects than children without epilepsy (p<0.01). Complex III and IV defects were significantly higher in patients without epilepsy (p<0.01 and p<0.05, respectively) than in those with epilepsy. CONCLUSIONS: Epilepsy is an important component of ME. The higher incidence of complex I defects in patients with epilepsy suggests a possible relationship between mitochondrial oxidative stress dysfunction and epileptogenic process.

Chronic sorrow: A content analysis of parental differences.

Sixty-eight mothers and 64 fathers of children with a neural tube defect responded to a questionnaire about chronic sorrow. Mothers reported a mood state change in very intense category from more pessimistic at time of diagnosis to more optimistic at current time. Fathers, although indicating a mood change in the very intense category to more optimistic, also had more pessimistic responses. Parental similarities and differences were also reported in both times and events that triggered the sorrow response. Categories across times and events were primarily related to health care, school/development concerns and social significance. Clinical and research implications of these findings are discussed.

Perceptual accuracy and gender-related differences in parents of children with myelomeningocele.

The ability to perceive accurately is central to efficient and optimal use of health care resources. Many factors may affect parental ability to achieve this accuracy including concepts pertinent to perception theory and gender of the parent. Facets of person perception theory, gender-related differences between parents and suggestions for nursing care are discussed in the context of caring for a child with myelomeningocele.

Showcasing a profession: getting nursing on the newsstand.

Interacting with the media is a method of showcasing the nursing profession. Clinical nurse specialists (CNSs) have a variety of opportunities available for these interactions: appearing on television, participating in a radio program or writing to the media. A survey completed by the authors indicated that CNSs had many media interactions, yet overall, only 17% of all nurses surveyed used writing. This paper begins by discussing where to publish and how to prepare and target the audience. General and specific guidelines for publishing feature articles, health tips, letters to the editor, and other publishing possibilities are presented.

Catecholamine metabolism in steely hair disease.

Steely hair disease, a neurodegenerative disorder, is characterized by slow growth, progressive cerebral dysfunction, kinky friable hair, x-linked inheritance, and death before three years of age. Low-serum copper has been found to play a role in steely hair disease. This article describes the role of copper, the pathophysiology of this disease, and current treatment and research. A case history and pertinent aspects of nursing care of these patients are also presented.