94 research outputs found
Evidence-Based Health Care for Children: What Are We Missing?
Proposes a new framework for evaluating evidence in health care that takes into account interventions in child health promotion, which aim to change children's physical, social, or emotional environment and may take longer for the effects to show
Attenuated variants of Lesch-Nyhan disease
LeschāNyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthineāguanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the classic disease, variant forms of the disease occur wherein some clinical features are absent or unusually mild. The current studies provide the results of a prospective and multi-centre international study focusing on neurological manifestations of the largest cohort of LeschāNyhan disease variants evaluated to date, with 46 patients from 3 to 65 years of age coming from 34 families. All had evidence for overproduction of uric acid. Motor abnormalities were evident in 42 (91%), ranging from subtle clumsiness to severely disabling generalized dystonia. Cognitive function was affected in 31 (67%) but it was never severe. Though none exhibited self-injurious behaviours, many exhibited behaviours that were maladaptive. Only three patients had no evidence of neurological dysfunction. Our results were compared with a comprehensive review of 78 prior reports describing a total of 127 LeschāNyhan disease variants. Together these results define the spectrum of clinical features associated with hypoxanthineāguanine phosphoribosyltransferase deficiency. At one end of the spectrum are patients with classic LeschāNyhan disease and the full clinical phenotype. At the other end of the spectrum are patients with overproduction of uric acid but no apparent neurological or behavioural deficits. Inbetween are patients with varying degrees of motor, cognitive, or behavioural abnormalities. Recognition of this spectrum is valuable for understanding the pathogenesis and diagnosis of all forms of hypoxanthineāguanine phosphoribosyltransferase deficiency
Mass transfer efficiency of a tall and low plate free area liquid pulsed sieve-plate extraction column
A conversational system for the computer analysis of nucleic acid sequences.
We present a conversational system for the computer analysis of nucleic acid and protein sequences based on the well-known Queen and Korn program (1). The system can be used by persons with only minimal knowledge of computers
Characterization of a family of gamma-ray-induced CHO mutants demonstrates that the ldlA locus is diploid and encodes the low-density lipoprotein receptor.
DNA-mediated transfer of a human gene required for low-density lipoprotein receptor expression and for multiple Golgi processing pathways.
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