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W Norton

Publications and source records attributed to W Norton.

9 recordsLinked to original sources

Urine amino and organic acids analysis in developmental delay or intellectual disability.

OBJECTIVES: To determine the proportion of urine amino and organic acids screening tests (UMS) undertaken for patients referred with developmental delay or intellectual disability (DD/ID), and within the group with DD/ID, to determine the diagnostic yield, the proportion of diagnoses with a therapy and the associated recurrence risks. METHODS: A retrospective review of request forms and results of UMS, in individuals older than 28 days, referred to the Women's and Children's Hospital, North Adelaide, between 1 January 1992 and 31 December 1998 was carried out. Urine was analysed by ion exchange chromatography (amino acids), gas chromatography/mass spectrometry (organic acids), colorimetric assay (orotic acid) and stable isotope-dilution mass spectrometry (trimethylamine). RESULTS: A total of 3316 samples were received, 1447 being from patients with DD/ID. A diagnosis was determined for 1.8% of all referrals. For patients with DD/ID, the diagnostic yield was 1.1%, with a similar yield for isolated DD/ID and DD/ID with other features (9/828 vs 7/619; chi2 = 0.006; P = 0.93). Specific therapies were available for 69% of diagnoses associated with DD/ID and 87.5% had known Mendelian or mitochondrial inheritance. CONCLUSION: Urine metabolic screening is an important part of the evaluation of children with DD/ID as it can enable families to make reproductive decisions and children to receive appropriate therapy early.

Amino Acids↗

RS2: a sugar beet gene related to the latex allergen Hev b 5 family.

A novel gene (RS2) has been isolated from a Beta vulgaris (cv. Regina) cDNA library. The expression of this gene was enhanced in the mature storage organ as compared to leaf tissue. The protein encoded by this gene was found to be alanine- and glutamic acid-rich and it resembles members of the latex allergen Hev b 5 family.

Allergens↗

Prevalence of psychologic impairment in an advanced-age population.

Interviews were conducted in the homes of 200 persons aged 80 years or older; 100 lived in Vancouver and 100 in Victoria, B. C. Between 15 and 27 per cent showed psychologic impairment, as measured by self-reporting of symptoms, including use of prescribed psychotropic drugs. A comparison of those who were psychologically impaired with those who were psychologically healthy demonstrated that accidents, eye problems, and dearth of social contacts were significantly associated with the former group. In 74 per cent of the sample, activities were restricted in varying degrees because of health problems, and there was a surprising degree of social isolation. On the Social Interaction Index, low scores were significantly more common among the psychologically impaired, and a similar relationship between poor physical health and social isolation was demonstrated with a multiple regression analysis. The findings suggest that poor social interaction, particularly, and poor health may be predictors of psychologic distress. Extended family support is weakening, and planned programs are needed to improve the lifestyles of the aged and to prevent loneliness and alienation.

Aged↗

Medical and social factors associated with psychological distress in a sample of community aged.

Two hundred persons over 80 in two urban communities were interviewed. Of those interviewed, 21% evidenced psychological impairment as defined by the presence of at least one of the following self-report symptoms: 1) depression; 2) periods of inability to function; 3) suicidal ideation; 4) alcohol problems and 5) use of psychotropic medication. A profile of the psychologically impaired group compared to the psychologically healthy showed that accidents (mostly falls), eye problems and few social contacts were significantly associated with impairment. Approximately 75% had some restrictions on activity due to physical health problems. Social isolation was marked: 54% either had no children or saw them less than once a month; 38% visited with close friends or relatives less than once a month; 19% were rated as having very little or no social support; and 23% socialized beyond the household less than once a week. Social interaction was the strongest predictor of psychological wellbeing (Affect Balance Scale) in a multiple regression analysis that included physical health and socioeconomic variables. Questions about service needs and utilization indicated unmet needs in the areas of transportation, house maintenance, medical services, and a regular visiting service.

Aged↗

Intracellular iron-binding macromolecules in HeLa cells.

The concentration of the iron-chelating agent, desferrioxamine (Desferal), that just inhibits iron entry into HeLa cells is also the concentration that inhibits DNA synthesis. As a first step in clarification of the mechanism whereby iron may partake in DNA synthesis, we have partially characterized several of the intracellular iron-binding sites. Most cytoplasmic iron appears to be bound to a polysaccharide containing glucose that sediments at about 32 S. Nucleolar iron is bound to a single protein, the mobility of which is independent of the concentration of sodium dodecyl sulfate in an acrylamide gel. In contrast the pattern and mobility of nuclear iron, other than nucleolar, is heterogeneous and markedly affected by the concentration of sodium dodecyl sulfate. The evidence suggests that nuclear iron is bound to protein through one or more intermediate(s).

Binding Sites↗