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31.
The purpose of this paper is to carry out an analysis of the term leukoplakia since its introduction in 1877 and to expose the most accepted concepts and present classification within specialists. For this purpose attention will be paid to definitions established in the international seminary developed in Malm? City, Sweden, in June 1983. A group of observations on present status of research and diagnostic methods and its limitations to pre-establish when a lesion of this type is going to evolve toward malignancy, is included. An important part of this paper is devoted to the linguistic analysis of leukoplakia and leukoplasia expressions. An extensive argumentation demonstrating the systematic impropriety in the Spanish Language of translating the English term "leukoplakia as leukoplasia, is presented. There is in Spanish the accurate translation, given by the expression leukoplakia, which is not only the adequate one for the exactness of its translation but also the one more conceptually adjusted to contemporary definition universally accepted, that is to say, a white plaque. Finally, a comment on importance of incorporates to our language the exact translation of scientific words, not only to fit it to present science, but also to a better fulfillment of its function in allowing the communication within Latin American researches themselves and with the world scientific community, is exposed. 相似文献
32.
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability 总被引:1,自引:15,他引:1
La Spada AR; Peterson KR; Meadows SA; McClain ME; Jeng G; Chmelar RS; Haugen HA; Chen K; Singer MJ; Moore D; Trask BJ; Fischbeck KH; Clegg CH; McKnight GS 《Human molecular genetics》1998,7(6):959-967
X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG
repeat expansion in the first exon of the androgen receptor (AR) gene.
Disease-associated alleles (37-66 CAGs) change in length when transmitted
from parents to offspring, with a significantly greater tendency to shift
size when inherited paternally. As transgenic mice carrying human AR cDNAs
with 45 and 66 CAG repeats do not display repeat instability, we attempted
to model trinucleotide repeat instability by generating transgenic mice
with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions
in their genomic context. Studies of independent lines of AR YAC transgenic
mice with CAG 45 alleles reveal intergenerational instability at an overall
rate of approximately 10%. We also find that the 45 CAG repeat tracts are
significantly more unstable with maternal transmission and as the
transmitting mother ages. Of all the CAG/CTG repeat transgenic mice
produced to date the AR YAC CAG 45 mice are unstable with the smallest
trinucleotide repeat mutations, suggesting that the length threshold for
repeat instability in the mouse may be lowered by including the appropriate
flanking human DNA sequences. By sequence-tagged site content analysis and
long range mapping we determined that one unstable transgenic line has
integrated an approximately 70 kb segment of the AR locus due to
fragmentation of the AR YAC. Identification of the cis - acting elements
that permit CAG tract instability and the trans -acting factors that
modulate repeat instability in the AR YAC CAG 45 mice may provide insights
into the molecular basis of trinucleotide repeat instability in humans.
相似文献
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Longui CA Lemos-Marini SH Figueiredo B Mendonca BB Castro M Liberatore R Watanabe C Lancellotti CL Rocha MN Melo MB Monte O Calliari LE Guerra-Junior G Baptista MT Sbragia-Neto L Latronico AC Moreira A Tardelli AM Nigri A Taymans SE Stratakis CA 《Journal of medical genetics》2004,41(5):354-359
The R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumour (ACT) formation in Brazilian and possibly other populations. Additional genetic defects may be responsible for the variable expression of ACTs in these cases. The inhibin α-subunit gene (INHA) on 2q33-qter has been implicated in mouse adrenocortical tumourigenesis. We studied 46 pediatric patients with ACTs from Brazil for INHA genetic alterations; 39 of these patients were heterozygous carriers of the R337H TP53 mutation. We first mapped the INHA gene by radiation hybrid analysis and determined 10 linked microsatellite markers in an area flanked by D2S1371 and D2S206 on 2q33-qter. These markers were then used for loss of heterozygozity (LOH) studies in nine paired germline and tumour DNA samples. Mapping placed the INHA gene in close proximity to D2S2848 (SHGC11864) with a log of odds (LOD) score of 5.84. LOH for at least one marker in the region was identified in 8/9 tumours (89%). Six patients were heterozygous for three INHA mutations: one in exon 1, 127C>G, and two in exon 2, 3998G>A and 4088G>A, all leading to amino acid substitutions (P43A, G227R, and A257T, respectively). A257T is located in a conserved INHA region, highly homologous to transforming growth factor-ß; both G227R and A257T change polarity, and, in addition, G227R changes the pH. We conclude that these sequence alterations and the detected 2q allelic changes suggest that INHA may be one of the contributing factors needed for ACT formation in pediatric patient carriers of the R337H TP53 mutation. 相似文献
35.
Ultrastructural features of the rat parathyroid (PT) glands have been studied under 3 different glutaraldehyde fixation methods. Cell differences caused by fixation or due to functional conditions were evaluated. The changes of organelles and relationship of plasma membranes of chief dark-light cells, as well the pericapillary and intercellular spaces were used for this evaluation. Light cells were observed in all PT glands studied. PT glands adequately perfused presented light chief cells as transitional secretory form. Incompletely-perfused and immersion-fixed glands presented most of light chief cells as a fixation artifact. The same interpretation was given to intercellular spaces which appeared only in glands fixed by immersion. In adequately perfused glands interdigitated and straight plasma membranes of neighbour chief cells were tightly continuous with frequent desmosomes. Distended mitochondria, RER and Golgi cisternae as well vacuolizations of chief cell cytoplasm and connective tissue were characteristics of unadequately perfused glands. The best fixation method for a homogeneous preservation of all components of rat PT glands, which decreased the possibility of a wrong interpretation of normal variations, was perfusion through the left ventricle. Fixative with pH and osmolarity carefully controlled were injected after saline washing of the vascular bed. 相似文献
36.
37.
Morphological analysis of degeneration and regeneration of syncytiotrophoblast in first trimester placental villi during organ culture 总被引:3,自引:1,他引:3
We have recently shown using dansyl-L-lysine exclusion studies that the
release of human chorionic gonadotrophin (HCG) in conjunction with L-
lactate dehydrogenase (LDH) from first trimester villi during organ culture
is symptomatic of syncytiotrophoblast degeneration. The purpose of this
study was to examine chorionic villi at the ultrastructural level in order
to determine events occurring during organ culture. The tissue was sampled
after 0, 24, 48 and 120 h in culture and processed for electron microscopy.
In addition to confirming the previously recorded syncytial degeneration,
the electron micrographs showed clearly the generation of a new
syncytiotrophoblast layer. The new layer, derived from differentiating
cytotrophoblast cells, was largely formed by 48 h and was maintained for at
least 120 h in culture. This study demonstrates a model which provides an
opportunity to study the differentiation of cytotrophoblast cells whilst
they retain their anatomical relationships within the villous structure.
相似文献
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