Severe phenotypes associated with inactive ring X chromosomes.

Mental retardation and congenital malformations in individuals with small ring X chromosomes are often due to the functional disomy that results from failure of these chromosomes to undergo X inactivation. Such chromosomes either lack the XIST locus or do not express it. We have carried out genetic analysis of the ring X chromosomes from two girls with a 45,X/46,X,r(X) karyotype, mental retardation, and a constellation of abnormalities characteristic of the severe phenotype due to X disomy. In each case the ring X chromosome included an intact XIST locus which was expressed; the breakpoints were distal to DXS128, and therefore outside the XIC region; transcription analysis of alleles at the androgen receptor locus confirmed that these were inactive chromosomes. The characteristics of the XIST RNA were similar to the wild-type. Additional studies in cultured fibroblasts showed a second ring in a small percentage of the cells. The association of severe phenotype with an inactive X chromosome most likely reflects the presence of a second ring X chromosome which was active at least in some tissues during embryogenesis, but is no longer prominent in the tissues we analyzed.

Delirium: a symptom of how hospital care is failing older persons and a window to improve quality of hospital care.

Delirium, or acute confusional state, which often results from hospital-related complications or inadequate hospital care for older patients, can serve as a marker of the quality of hospital care. By reviewing five pathways that can lead to a greater incidence of delirium--iatrogenesis, failure to recognize delirium in its early stages, attitudes toward the care of the elderly, the rapid pace and technological focus of health care, and the reduction in skilled nursing staff--we identify how future trends and cost-containment practices may exacerbate the problem. Examining delirium also provides an opportunity to improve the quality of hospital care for older persons. Interventions to reduce delirium would need to occur at the local and national levels. Local strategies would include routine cognitive assessment and the creation of systems to enhance geriatric care, such as incentives to change practice patterns, geriatric expertise, case management, and clinical pathways. National strategies might include providing education for physicians and nurses to improve the recognition of delirium and the awareness of its clinical implications, improving quality monitoring systems for delirium, and creating environments to facilitate the provision of high-quality geriatric care.

A nonpharmacologic sleep protocol for hospitalized older patients.

OBJECTIVES: To evaluate the feasibility of and adherence to a nonpharmacologic sleep protocol targeted to nurses for acutely ill older patients and to test the effectiveness of the protocol on enhancing sleep and reducing sedative-hypnotic drug (SHD) use. DESIGN: Prospective cohort study. SETTING: A 34-bed general medical unit in a university-affiliated teaching hospital. PARTICIPANTS: A total of 175 consecutive admissions aged 70 years or older. INTERVENTION: A nonpharmacologic sleep protocol consisting of a back rub, warm drink, and relaxation tapes was administered by nursing personnel to patients who complained of difficulty initiating sleep or who requested a SHD. After 1 hour, if the patient still requested it, the nurse administered the SHD. MEASUREMENTS: The main outcomes of sleep quality and SHD use were measured by patient interview and chart abstraction. Feasibility and adherence to the protocol were tracked daily by patient and nurse interviews and chart abstraction. RESULTS: A cohort of 111 patients, mean age 79.3 (+/- 6.4), 68% women, received the sleep protocol. Patients required the protocol for a mean of 4.9 days per patient, totalling 539 patients-days. The overall adherence rate was 400/539 (74%) patient-days. The rate of complete nonadherence was 139/539 (26%), with reasons for nonadherence including nurse nonadherence in 30 (6%), patient refusal in 104 (19%), and medical contraindications in five (1%). The quality of sleep correlated strongly with the number of parts of the protocol received, suggesting a dose-response relationship, with the highest correlation for receiving two to three parts (p = .64, P < 0.001). The sleep protocol was successful in reducing SHD use from the baseline preintervention rate of 51/94 (54%) to 34/111 (31%) (P < .002). The sleep protocol had a stronger association with quality of sleep (p = .75, P = .001) than did SHDs (p = .07, P = .45). However, chronic SHD users were more likely to refuse the protocol than nonusers (64% vs 41%, P < .03) and received SHDs 4.5 times more often than nonusers (67% vs 15%, P = .001). CONCLUSION: The nonpharmacologic sleep protocol provides a feasible, effective, and nontoxic alternative to SHDs to promote sleep in older hospitalized patients. Use of the protocol can substantially decrease use of SHDs.