Interstitial deletion of 10q: Clinical features and literature review

We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and “dysplastic” pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies. © 1992 Wiley-Liss, Inc.     

Strong association of the rest-activity rhythm with well-being in demented elderly women.

OBJECTIVE: The objective of this study is to investigate the association between actigraphic estimates of the sleep-wake rhythm and a range of functional domains that contribute to well-being in demented elderly patients. METHOD: Eighty-seven women aged 85.5 +/- 5.9 years (mean +/- standard deviation) wore an actigraph for two weeks. Activity profiles were analyzed using nonparametric variables, including dichotomy indices, interdaily stability (IS), intradaily variability (IV), and relative amplitude (RA). The associations between these variables and cognitive, functional, behavioral, and emotional states (obtained from standardized neuropsychologic assessments and questionnaires administered to caregivers) were investigated by partial correlations and stepwise regressions. RESULTS: Cognitive, functional, behavioral, and emotional states showed medium to strong correlations with multiple rhythm variables. Partial correlations indicated that this could not be attributed to a uniform worsening with advancing cognitive decline. Stepwise regressions indicated three most distinctive rhythm variables: 1) the interdaily stability of the 24-hour rhythm was most strongly, negatively, related to cognitive decline and depression; 2) the median level of daytime activity was most strongly, negatively, related to impairments of function, of activities of daily living, and of social interaction; and 3) nocturnal restlessness was secondarily, positively, related to impairments of function and social interaction. CONCLUSION: Especially the interdaily stability and median daytime activity level, and secondarily nocturnal restlessness, showed a strong relationship with the functional status and well-being of demented elderly. This raises the possibility that treatments that enhance daytime activity and the stability of the rest-activity rhythm may improve well-being.     

Sub‐retinal neovascular membrane in exudative macular degeneration

Age‐related macular degeneration is a major cause of serious vision loss. The earliest stages of age‐related maculopathy may be defined by the size of the drusen present in the macula and the effects on vision. Further manifestations may include soft drusen, choroidal neovascularisation, macular haemorrhage and cicatricial or disciform degeneration of the macula. This report describes a patient with a macular haemorrhage, a choroidal neovascular membrane and serious loss of vision. In addition, the pathogenesis, diagnosis and treat‐ment options of macular degeneration are reviewed.     

How useful is dual energy lateral vertebral assessment in a clinic setting?

Screening for osteoporotic vertebral fractures traditionally involves X-ray of the thoracic and lumbar spine. We evaluated use of dual energy X-ray technology in patients with osteoporosis. We found this technology useful in the clinic setting and it has advantages in that less radiation is delivered to the patient.     

Corticosterone release in response to repeated, short episodes of neonatal isolation : evidence of sensitization

Repeated isolation of neonatal rats produces persistent changes in physiology and behavior. In Experiment 1, we examined changes in plasma corticosterone (CORT) levels as a possible mechanism for the effects of isolation. Pups that were isolated from their mother and the nest for 1 h per day on postnatal days (PND) 2–9 were compared to control litters of pups that were either nonhandled or handled but not isolated. On PND 2, compared to nonhandled pups, handled pups had elevated CORT levels that returned to baseline levels within 30 to 60 min of return to the home cage. No significant elevation of CORT levels were found in handled pups on PND 9. The CORT levels of isolated pups were over twice those of nonhandled pups on PND 2 and four times those of nonhandled pups on PND 9. In Experiment 2, we investigated whether the increased CORT release in response to isolation on PND 9 was the result of the pups treatment on the previous six days as against an effect of maturation. Plasma CORT levels were measured in rat pups that were either isolated, handled or nonhandled on PNDs 2–8 during the conditions of isolation, handling and nonhandling on PND 9. There were no differences among the groups in basal plasma levels of CORT. Handling on PND 9 did not result in elevated CORT levels in any of the groups. All three groups showed a significant increase in plasma CORT levels after isolation on PND 9. However, the CORT response to isolation of pups previously isolated on PND 2–8 were significantly higher than pups that were either handled or nonhandled on PNDs 2–8. Thus, daily episodes of isolation potentiate the hypothalamic-pituitary-adrenal response to stress.     

Patients with Alcohol Problems in the Emergency Department,Part 1: Improving Detection*

Abstract. Medical and social problems related to alcohol use are frequently seen in the ED. Often, the tempo of emergency medicine practice seems to preclude assessment beyond that required by the acute complaint. However, detection of ED patients with alcohol problems can occur using brief screening tools. This article was developed by members of the SAEM Substance Abuse Task Force, and describes screening tools that have been used successfully to identify atrisk and dependent drinkers. Their brevity, reproducibility, and accuracy vary somewhat, but screening can be realistically performed in the busy ED setting. The early detection of patients with alcohol problems would provide the opportunity for early intervention, and may reduce subsequent morbidity and mortality in this patient population.