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Biomedical subjects

E Baker

Publications and source records attributed to E Baker.

At least 181 records · Page 10Linked to original sources

Providing support to others and well-being in later life.

Although there is now a voluminous literature on supportive social relations in later life, most of this research has been concerned with assessing the beneficial effects of receiving support from others. The purpose of this study is to assess whether giving support to others within informal as well as formal settings might also benefit older help-providers. Findings from a recent nationwide survey of the elderly suggest that giving informal assistance to others (but not formal assistance) appears to bolster feelings of personal control in later life. The data further reveal that greater feelings of personal control are in turn related to lower levels of depressive symptomatology.

Activities of Daily Living↗

Characterisation of a new rare fragile site easily confused with the fragile X.

A new fragile site (FRAXE) in Xq28 is described. It appears to be a typical folate sensitive fragile site. The fragile site is not associated with mental retardation, it does not give abnormal results when subjected to Southern analysis with probe pfxa3 which detects the unstable DNA sequence characteristic of fragile X syndrome. In situ hybridization mapping locates the fragile site between 150 kb and 600 kb distal to FRAXA. The distinction between the two fragile sites is important clinically since cytogenetic detection of FRAXE, without molecular analysis, could result in misdiagnosis of fragile X syndrome.

Cells, Cultured↗

Mapping of the trichohyalin gene: co-localization with the profilaggrin, involucrin, and loricrin genes.

The chromosomal location of the gene encoding the human hair follicle protein trichohyalin has been determined by in situ hybridization. The human gene has been localized to the region 1q21.1-1q23 (probably 1q21.3) using a sheep trichohyalin cDNA probe. The genes encoding three other epithelial proteins, namely, profilaggrin, involucrin, and loricrin, are also located in the same region of chromosome 1, which, together with their similar gene and protein structures, suggests that the four proteins form a novel superfamily of epithelial structural proteins.

Chromosome Mapping↗

Desferrithiocin is an effective iron chelator in vivo and in vitro but ferrithiocin is toxic.

The efficacy and toxicity of the siderophore desferrithiocin (DFT), which has shown potential application in iron chelation therapy, were assessed in vivo and in vitro. DFT was evaluated in vivo in two ways: firstly, by measuring the effect of a single dose of DFT (10-100 mg/kg) on 59Fe excretion in iron-loaded rats labelled with 59Fe; and secondly, by examining the effect of the daily oral administration for 2 weeks of DFT (10-25 mg/kg/d) on the growing rat. DFT and its ferric complex, ferrithiocin (FT), were assessed in vitro from their effects on transferrin and iron uptake and mobilization from rat hepatocytes in culture using transferrin doubly labelled with 125I and 59Fe. Both oral and subcutaneous DFT were highly effective in promoting iron excretion in vivo, but showed evidence of toxicity after oral administration for 2 weeks at 25 mg/kg/d. In addition, DFT was much more effective than desferrioxamine or pyridoxal isonicotinyl hydrazone in reducing hepatocyte iron in vitro. However, FT was cytotoxic, causing membrane disruption and release of intracellular aspartate aminotransferase. It was concluded that DFT should not be considered for chronic iron chelation therapy without extensive further evaluation.

Administration, Oral↗

Localization of the human GM-CSF receptor beta chain gene (CSF2RB) to chromosome 22q12.2-->q13.1.

The gene for the beta-chain of the human GM-CSF receptor (CSF2RB) has been mapped to chromosome 22 by PCR analysis of a series of human x rodent somatic cell hybrids. In situ hybridization to normal human chromosomes and two translocations involving chromosome 22 and the chromosome expressing the rare fragile site FRA22A place the gene in the region 22q12.2-->q13.1, proximal to the fragile site.

Chromosomes, Human, Pair 22↗

Chromosomal location of the human transketolase gene.

The gene encoding the human transketolase enzyme (TKT) was localized by fluorescence in situ hybridization to normal and FRA3B human chromosomes. Southern blot analysis of a series of human x mouse and human x hamster hybrid cell lines confirmed this localisation. TKT maps to 3p14 and distal to FRA3B, localizing TKT to 3p14.3.

Animals↗

Predictors of smoking prevalence among New York Latino youth.

BACKGROUND: We examined prevalence rates and risk factors for smoking among Latino adolescents, using a multiethnic sample of sixth- and seventh-grade students (n = 3129) in 47 New York City public and parochial schools. METHODS: The students completed questionnaires; self-reported smoking data were collected by means of the "bogus pipeline" technique. The largest group of Latino students (43%) was Puerto Rican; 20% were of Dominican background, 7% were Colombian, and 7% were Ecuadorian. "Current smoking" was defined as smoking at least once per month. RESULTS: A series of logistic regression analyses indicated that peer influence was the strongest predictor of smoking. Family influence was important as well. CONCLUSIONS: The results are discussed in terms of their implications for prevention.

Adolescent↗

The false consensus effect: predicting adolescents' tobacco use from normative expectations.

A longitudinal sample of 916 adolescents was examined to assess the extent to which the perceived smoking prevalence of adults' or peers' smoking was related to cigarette smoking. Questionnaires were distributed to junior high school students in Grade 7 and again in Grade 9. Prevalence of perceived peers' smoking and prevalence of perceived adults' smoking were significantly related to cigarette smoking both cross-sectionally and longitudinally. Adolescents who believed that half or more than half of all adults or peers smoked cigarettes showed the most smoking involvement, and those who believed that fewer than half of adults or peers smoked were least involved. These findings provide further evidence that adolescent normative expectations about cigarette smoking are an important determinant of smoking initiation.

Adolescent↗

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG)n. The sequence flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro.

Base Sequence↗

The uptake of inorganic iron complexes by human melanoma cells.

The human melanoma cell line, SK-MEL-28, expresses high levels of melanotransferrin. The uptake of inorganic iron (Fe) complexes compared to transferrin-bound Fe by these cells has been investigated to determine whether melanotransferrin has a role in Fe uptake. The mechanisms of Fe uptake have been characterised using 59Fe complexes of citrate, nitrilotriacetate, desferrioxamine, and 59Fe added to Eagle's minimum essential medium (MEM) and compared with human transferrin (Tf) labelled with 59Fe and iodine-125. Iron uptake from the Fe complexes of citrate, nitrilotriacetate and MEM were similar, and far greater than that from Tf at the same Fe concentration (2.5 microM). Ammonium chloride and a monoclonal antibody to the transferrin receptor (42/6), had no effect on the uptake of Fe from inorganic Fe complexes, suggesting that receptor-mediated endocytosis of Tf was not involved. The monoclonal antibody, 96.5, specific for melanotransferrin did not alter total Fe uptake but slightly increased the proportion of Fe internalised, possibly due to the modulation of the antigen by the antibody. However, from the time required for modulation to occur (approximately 2 h), the small increase in internalisation observed and the fact that no increase in total cell Fe occurred, it is suggested that melanotransferrin has little role in Fe uptake.

Ammonium Chloride↗

Fragile X genotype characterized by an unstable region of DNA.

DNA sequences have been located at the fragile X site by in situ hybridization and by the mapping of breakpoints in two somatic cell hybrids that were constructed to break at the fragile site. These hybrids were found to have breakpoints in a common 5-kilobase Eco RI restriction fragment. When this fragment was used as a probe on the chromosomal DNA of normal and fragile X genotype individuals, alterations in the mobility of the sequences detected by the probe were found only in fragile X genotype DNA. These sequences were of an increased size in all fragile X individuals and varied within families, indicating that the region was unstable. This probe provides a means with which to analyze fragile X pedigrees and is a diagnostic reagent for the fragile X genotype.

Chromosome Mapping↗

The release of iron and transferrin from the human melanoma cell.

The role of the transferrin homologue, melanotransferrin (p97), in iron metabolism has been studied using the human melanoma cell line, SK-MEL-28, which expresses this antigen in high concentrations. The release of iron and transferrin were studied after prelabelling cells with human transferrin doubly labelled with iron-59 and iodine-125. Approx. 45% of internalised iron was in ferritin with little redistribution during reincubation. Iron release was linear with time, while transferrin release was biphasic, suggesting that iron was leaving the cell independently of transferrin. Unlabelled diferric transferrin increased transferrin release, implying a degree of coupling between cell surface binding, internalisation and release of transferrin. Increasing the preincubation time increased the amount of transferrin which remained internalised within the cell. A membrane-bound, iron-binding component with properties consistent with melanotransferrin was observed. Desferrioxamine or pyridoxal isonicotinoyl hydrazone could not remove iron from this compartment, suggesting a high affinity for iron. The number of membrane iron-binding molecules per cell was estimated to be 387,000 +/- 7000 . The non-transferrin-bound membrane Fe did not decrease during reincubation periods up to 5 h, suggesting that the cell was not utilising it. Hence, melanotransferrin may not have a role in internalising iron in melanoma cells.

Antigens, Neoplasm↗

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Hunter syndrome is a human X-linked disorder caused by deficiency of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). The consequent accumulation of the mucopolysaccharides dermatan sulphate and heparan sulphate, in the brain and other tissues, often results in death before adulthood. There is, however, a broad spectrum of severity that has been attributed to different mutations of the Hunter syndrome gene. We have used an IDS cDNA clone to localise the IDS gene to Xq28, distal to the fragile X mutation (FRAXA). One-third of Hunter syndrome patients had various deletions or rearrangements of their IDS gene, proving that different mutations are common in this condition. Deletions of the IDS gene can include a conserved locus that is tightly linked to FRAXA, suggesting that deletion of nearby genes may contribute to the variable clinical severity noted in Hunter syndrome. The cDNA clone was also shown to span the X chromosome breakpoint in a female Hunter syndrome patient with an X;autosome translocation.

Blotting, Southern↗

A refined physical map of the long arm of human chromosome 16.

Mapping of 33 anonymous DNA probes and 12 genes to the long arm of chromosome 16 was achieved by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. Two of the hybrid cell lines contained overlapping interstitial deletions in bands q21 and q22.1. The localization of the 12 genes has been refined. The breakpoints present in the hybrids, in conjunction with the fragile site, can potentially divide the long arm of chromosome 16 into 16 regions. However, this was reduced to 14 regions because in two instances there were no probes or genes that mapped between pairs of breakpoints.

Animals↗

The interleukin-4 receptor gene (IL4R) maps to 16p11.2-16p12.1 in human and to the distal region of mouse chromosome 7.

The chromosomal location of both the human and the mouse interleukin-4 receptor (IL4R) genes have been determined. The human gene was localized to 16p11.2-16p12.1 by in situ hybridization and confirmed by Southern blot analysis of DNA from a panel of mouse-human hybrid somatic cell lines. The mouse homolog was positioned in the distal region of chromosome 7 by interspecific backcross analysis. The results suggest that the IL4R locus is unlinked to other members of the hematopoietin receptor family. Interestingly, the position on human chromosome 16 suggests that the IL4R may be a candidate for rearrangements, as 12;16 translocations are often associated with myxoid liposarcomas.

Animals↗