Nodular vulvar amyloid as a presentation of systemic amyloidosis.
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Aged↗
Biomedical subjects
E Baker
Publications and source records attributed to E Baker.
A new folate sensitive fragile site at 1p21.3.
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Abortion, Habitual↗
Chromosomal location of the human tumor necrosis factor receptor genes.
TNFR1 and TNFR2, the genes encoding the two forms of the human tumor necrosis factor receptor, were localized to normal human chromosomes by in situ hybridization and Southern blot analysis of a series of human x mouse hybrid cell lines. TNFR1 maps to 12p13 and TNFR2 maps to 1p36.
Blotting, Southern↗
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.
Treacher Collins syndrome (TCS) is an autosomal dominant defect of craniofacial development which has not been chromosomally localized. We have identified a mother and two children who have TCS and also a balanced translocation t(6;16)(p21.31;p13.11), which suggested the possibility that the TCS locus might be located at one of the translocation breakpoints. These were defined by in-situ hybridization as 6p21.31 (by using loci in the HLA complex defined by the probes p45.1DP beta 003/HLA-DPB2 and pRS5.10/HLA class I chain) and 16p13.11 (by using probes pACHF1.3.2/D16S8 and VK45/D16S131). Pairwise and multipoint linkage analysis using localized chromosome 6 probes and chromosome 16 probes in 12 unrelated TCS families with multiple affected siblings excluded the TCS locus from proximity to both translocation breakpoints. These data were confirmed when a third affected child, who did not exhibit the translocation, was born to the mother.
Chromosome Banding↗
Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.
The gene for Batten disease (CLN3) has been mapped to human chromosome 16 by demonstration of linkage to the haptoglobin locus, and its localization has been further refined using a panel of DNA markers. The aim of this work was to refine the genetic and physical mapping of this disease locus. Genetic linkage analysis was carried out in a larger group of families by using markers for five linked loci. Multipoint analysis indicated a most likely location for CLN3 in the interval between D16S67 and D16S148 (Z = 12.5). Physical mapping of linked markers was carried out using somatic cell hybrid analysis and in situ hybridization. A mouse/human hybrid cell panel containing various segments of chromosome 16 has been constructed. The relative order and physical location of breakpoints in the proximal portion of 16p were determined. Physical mapping in this panel of the markers for the loci flanking CLN3 positioned them to the bands 16p12.1----16p12.3. Fluorescent in situ hybridization of metaphase chromosomes by using these markers positioned them to the region 16p11.2-16p12.1. These results localize CLN3 to an interval of about 2 cM in the region 16p12.
Chromosome Mapping↗
AIDS risk knowledge, attitudes, and behavioral intentions among multi-ethnic adolescents.
The purpose of this study was to determine how much young adolescents know about AIDS and AIDS risk and to identify areas of confusion that might serve as important targets of educational intervention. A multiethnic (43% white, 33% black, 18% Latino) sample of 303 seventh-grade students (48% male) in 3 schools in the greater New York area completed questionnaires assessing knowledge, attitudes, and behavioral intentions concerning AIDS and AIDS risk. Consistent with previous studies with older adolescents, the major finding in this study was that young adolescents had a high degree of knowledge concerning AIDS and AIDS risk. There were 2 areas of confusion concerning AIDS risk. Specifically, 31% of adolescents did not correctly identify "not having sex" as the most effective way of preventing AIDS, and 33% believed that AIDS could be spread through casual contact. Findings are discussed in terms of their implications for prevention.
Acquired Immunodeficiency Syndrome↗
Branched-chain amino acids overcome cycloleucine growth inhibition in B12 and non-B12-requiring microorganisms.
Because cycloleucine (CL) inhibits methionine, and probably B12, we studied CL activity in some B12 or methionine dependent microorganisms to determine whether methionine or other amino acids are targeted by CL. We found that branched-chain amino acids, valine in particular, effectively annulled CL growth inhibition, whereas B12 was ineffective. alpha-Ketoisovalerate was the only intermediate in pathways of branched-chain amino acids catabolism that overcome CL toxicity; propionate, methylmalonate, succinate, alpha-ketoisocaproate and alpha-ketoglutarate were inactive by themselves or in combination. This study suggests that CL antagonizes the action of not only B12 and methionine but also branched-chain amino acids. Results seem comparable to those with B12-deficient fruit bats having neurologic involvement.
Amino Acids↗
Isolation of a human DNA sequence which spans the fragile X.
To identify the sequences involved in the expression of the fragile X and to characterize the molecular basis of the genetic lesion, we have constructed yeast artificial chromosomes (YACs) containing human DNA and have screened them with cloned DNA probes which map close to the fragile site at Xq27.3. We have isolated and partly characterized a YAC containing approximately 270 kb of human DNA from an X chromosome which expresses the fragile X. This sequence in a yeast artificial ring chromosome, XTY26, hybridizes to the two closest DNA markers, VK16 and Do33, which flank the fragile site. The human DNA sequence in XTY26 also spans the fragile site on chromosome in situ hybridization. When a restriction map of XTY26, derived by using infrequently cutting restriction enzymes, is compared with similar YAC maps derived from non-fragile-X patients, no large-scale differences are observed. This YAC, XTY26, may enable (a) the fragile site to be fully characterized at the molecular level and (b) the pathogenetic basis of the fragile-X syndrome to be determined.
Chromosome Mapping↗
The effect of diagnostic methodology on the sensitivity of the TRH stimulation test for depression: a literature review.
The authors review over 50 reports comparing test sensitivity of the thyrotropin-releasing hormone (TRH) stimulation test using either DSM-III or Research Diagnostic Criteria (RDC) criteria for depression. Ten reports with a total of 410 patients and 458 test results were analyzed that met specific criteria for diagnosis for the TRH test. The sensitivity for depression with the TRH test in the DSM-III reports was 34.8% compared with six RDC reports in which the sensitivity was 51% (chi 2 10.41, p less than 0.001). The authors discuss possible endocrine and psychiatric implications of this finding and encourage researchers to use two methods for diagnosis in future clinical research in order that this type of comparison can be undertaken in the same patients. This will help in future modifications and revisions of the DSM.
Depressive Disorder↗
Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region.
Mammalian sex chromosomes share a small terminal region of homologous DNA sequences, which pair and recombine during male meiosis. Alleles in this region can be exchanged between X and Y chromosomes and are therefore inherited as if autosomal. Genes from this so-called pseudoautosomal region (PAR) are present in two doses in both males and females, and escape inactivation of the X chromosome in females. Indirect evidence suggests that there must be several pseudoautosomal genes, and several candidates have been proposed. Until now, the only gene that has been unequivocally located in the PAR is MIC2, which encodes a cell-surface antigen of unknown function. We now report the localization of a gene of known function to this region--the gene for the receptor of the haemopoietic regulator, granulocyte-macrophage colony stimulating factor. The chromosomal localization of this gene may be important in understanding the generation of M2 acute myeloid leukaemia.
Chromosome Mapping↗
The uptake of iron and transferrin by the human malignant 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 mechanisms of iron and transferrin uptake were investigated using human transferrin labelled with iodine-125 and iron-59. Internalised and membrane-bound iron and transferrin were separated using the proteinase, pronase. The uptake of iron from transferrin occurred by at least two processes. The first process was saturable and consistent with receptor-mediated endocytosis, involving internalisation of transferrin bound to specific binding sites. Uptake of iron also occurred by a second process which was non-saturable up to 0.06 mg/ml (0.75 microM) and was of higher efficiency than the saturable process. This process of iron uptake may be the dominant one at physiological serum transferrin concentrations. A membrane-bound, pronase-sensitive, temperature-dependent, iron-binding component was also identified. The number of binding sites was estimated to be approx. 340,000 per cell (assuming 2 atoms of iron per site) and it is suggested that this binding component may be melanotransferrin.
Antigens, Neoplasm↗
Localization of the cell surface antigen CD7 by chromosomal in situ hybridization.
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Antigens, CD↗
Predicate-argument structure as a link between linguistic and nonlinguistic representations.
We present a study wherein a severe Broca's aphasic patient was trained to learn symbols representing both pure transitive and dative predicates--predicates differing in argument structure--in a visually based artificial language (c-ViC). We found a decrease in performance when two symbols, rather than one, were used to depict these "verbs." However, this decrease in performance was more pronounced for symbols representing pure transitive verbs--those that allow only one argument structure--than for symbols representing dative verbs--those that allow two different argument structures. Also, dative "verbs" yielded better performance when they were inserted in more complex, three-argument "sentences" than when they were inserted in two-argument "sentences." The opposite pattern was found for pure transitives. These results are discussed in terms of our claim that argument structure serves as a point of connection between linguistic information and non-linguistic visual information and in terms of the possibility that argument structure entries are shaped by the form in which visual information is parsed.
Aged↗
A cognitive-behavioral approach to substance abuse prevention: one-year follow-up.
This study presents one-year follow-up data from an evaluation study testing the effectiveness of a cognitive-behavioral substance abuse prevention approach which emphasizes the teaching of social resistance skills within the larger context of an intervention designed to enhance general social and personal competence. The follow-up study involved 998 eighth graders from 10 suburban New York junior high schools. Two schools were assigned to each of the following conditions (a) peer-led intervention, (b) peer-led intervention with booster sessions, (c) teacher-led intervention, (d) teacher-led intervention with booster sessions, and (e) control. The original intervention was implemented in the seventh grade; the booster intervention was implemented during the eighth grade. Results indicate that this type of prevention strategy, when implemented by peer leaders in the seventh grade and when additional booster sessions are provided during the eighth grade, can reduce tobacco, alcohol, and marijuana use. Similar effects are evident for females when the prevention program is implemented with fidelity by classroom teachers. Moreover, the prevention program is also capable of producing a significant impact on several hypothesized mediating variables.
Adaptation, Psychological↗
The human metallothionein gene cluster is not disrupted in myelomonocytic leukemia.
The human metallothionein gene complex on chromosome 16 has been remapped to 16q13 using high-resolution in situ hybridization. The complex is not disrupted by the rearrangement breakpoint on the long arm of chromosome 16 in patients with myelomonocytic leukemia with abnormal eosinophils, as had been previously reported. The locus order on 16q is cen-MT-FRA16B-D16S4-inversion breakpoint-HP-tel.
Blotting, Southern↗
Preventing adolescent drug abuse through a multimodal cognitive-behavioral approach: results of a 3-year study.
Students (N = 4,466) attending 56 schools in New York State were involved in a 3-year study testing the effectiveness of a cognitive-behavioral approach to substance abuse prevention. In a randomized block design, schools were assigned to receive (a) the prevention program with formal provider training and implementation feedback, (b) the prevention program with videotaped provider training and no feedback, or (c) no treatment. After pretest equivalence and comparability of conditions with respect to attrition were established, students who received at least 60% of the prevention program (N = 3,684) were included in analyses of program effectiveness. Significant prevention effects were found for cigarette smoking, marijuana use, and immoderate alcohol use. Prevention effects were also found for normative expectations and knowledge concerning substance use, interpersonal skills, and communication skills.
Adolescent↗
The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.
The common fragile site on the end of the long arm of the human X chromosome has been shown to be at a different location from the rare fragile site which produces the fragile X syndrome of intellectual handicap. The different locations can be clearly seen in chromosomes at about the 550 band level of resolution. This finding should help resolve difficulties in fragile X cytogenetics where expression of the common fragile site can lead to false positive diagnoses.
Chromosome Banding↗
Effect of cellular iron concentration on iron uptake by hepatocytes.
The effect of intracellular iron content on transferrin and iron uptake by cultured hepatocytes isolated from fetal rat liver was examined with ferric ammonium citrate and the iron chelator desferrioxamine (DFO). Incubation of the cells with ferric ammonium citrate for 24 h significantly increased the cellular nonheme iron level, whereas the number of transferrin binding sites and the uptake of transferrin and iron were reduced. In contrast, when iron-treated cells were incubated with DFO for 24 h, the cellular nonheme iron level was not altered, but the number of transferrin binding sites was increased. Treatment of the cells with exogenous iron and/or DFO did not affect the uptake of transferrin and iron by the nonsaturable processes. These results indicated that, in cultured hepatocytes, transferrin receptor expression and the subsequent uptake of transferrin and iron are regulated by the size of an intracellular, chelatable iron pool, whereas the uptake of iron by the nonsaturable processes is dependent on the extracellular transferrin concentration.
Animals↗