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Ophthalmology Oct 2003To assess the risk of retinoblastoma developing in children with microscopic chromosomal with mosaic deletions involving 13q14. (Review)
Review
PURPOSE
To assess the risk of retinoblastoma developing in children with microscopic chromosomal with mosaic deletions involving 13q14.
DESIGN
Case report and systematic literature review.
PARTICIPANTS
Data on 29 patients with a mosaic and 107 patients with a nonmosaic somatic deletion of chromosome 13q14 were compared.
MAIN OUTCOME MEASURES
Age at diagnosis, frequency, and laterality of retinoblastoma.
CASE REPORT
A dysmorphic baby, who carried a chromosomal deletion involving 13q14 in 34% of peripheral blood lymphocytes, had neuroradiologic evidence of retinoblastoma at the age of 2 weeks. She developed trilateral retinoblastoma, a pineal neuroblastic tumor, at the age of 10 months. The diagnosis of her tumor was delayed because of misjudgment of risk of retinoblastoma developing.
RESULTS
Meta-analysis revealed no difference between children with mosaic and nonmosaic chromosomal deletion of 13q14 regarding the age at diagnosis, laterality of tumor, and presence of family history for retinoblastoma. A lower percentage of somatic cells with mosaic deletion did not predict a higher age at diagnosis or unilateral tumors. No statistically significant difference was noted regarding the presence of mental retardation, dysmorphic features, and anomalies of internal organs between mosaic and nonmosaic deletions. Only 7% (95% confidence interval, 1-23) of 29 patients who had a mosaic chromosomal deletion including 13q14 were not reported to develop retinoblastoma.
CONCLUSIONS
Whenever a 13q14 deletion is diagnosed, immediate ophthalmologic evaluation is recommended to ensure prompt diagnosis of retinoblastoma. Mosaic and nonmosaic chromosomal deletions of 13q14 do not differ regarding the risk and type of retinoblastoma developing.
Topics: Brain Neoplasms; Chromosome Deletion; Chromosomes, Human, Pair 13; Fatal Outcome; Female; Humans; Infant; Magnetic Resonance Imaging; Mosaicism; Pineal Gland; Pinealoma; Retinal Neoplasms; Retinoblastoma; Risk Factors; Tomography, X-Ray Computed
PubMed: 14522775
DOI: 10.1016/S0161-6420(03)00484-6 -
Zeitschrift Fur Gerontologie Und... Dec 2001Melatonin is a hormone and antioxidant produced by the pineal gland of which four neurobiological roles have been claimed in the aged population: anti-ageing agent;... (Review)
Review
BACKGROUND
Melatonin is a hormone and antioxidant produced by the pineal gland of which four neurobiological roles have been claimed in the aged population: anti-ageing agent; free-radical scavenger; regulator of circadian rhythm; endogeneous sleep-inducer. The "melatonin replacement" hypothesis states that 1) the well-evidenced age-related decline contributes to insomnia and that 2) replacement with physiological doses of melatonin improves sleep. The aim of this review was to determine the evidence for the efficacy of melatonin in elderly insomniacs.
METHODS
MEDLINE's database from 1990-2000 was searched with "melatonin", "geriatrics" and "(frail)-elderly" as major sub-headings. This resulted in 78 articles: only studies with empirical treatment data were reviewed (N = 12).
RESULTS
Six reports (abstract, research letter, retrospective case study, 3 open label studies) showed a trend towards efficacy of melatonin: sleep quality improved and in patients with Alzheimer's disease sundowning was reduced. In 6 double blind, randomised crossover trials, a total number of 95 patients (mean ages: 65-79 yrs) were treated. Melatonin doses ranged from 0.5 mg to 6 mg; most took a single dose 30-120 min before bedtime. In 3 studies a slow release form was used. Sleep quality was objectively measured by wrist actigraphy (n = 4) and polysomnography (n = 2), and additionally subjective sleep quality was assessed (n = 2). Sleep latency decreased significantly in 4 studies. In 3 studies other measures of sleep quality (sleep efficiency, total sleep time and wake time during sleep) improved. Subjective sleep quality did not improve. No early-morning sleepiness occurred. Comparison of the studies suggests that melatonin is most effective in elderly insomniacs who chronically use benzodiazepines and/or with documented low melatonin levels during sleep.
CONCLUSION
There is sufficient evidence that low doses of melatonin improve initial sleep quality in selected elderly insomniacs. However, larger randomized controlled trials, with less strict inclusion criteria are necessary to yield evidence of effectiveness (i.e. clinical and subjective relevance) in geriatric patients who suffer from insomnia, before wide-spread use can be advocated.
Topics: Aged; Alzheimer Disease; Cross-Over Studies; Dose-Response Relationship, Drug; Double-Blind Method; Female; Humans; Male; Melatonin; Randomized Controlled Trials as Topic; Sleep Initiation and Maintenance Disorders; Treatment Outcome
PubMed: 11828891
DOI: 10.1007/s003910170025