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AbstractAbstract
[en] In order to find out what caused the differences in incidences of Down's syndrome between the children in high background radiation area and those in control area, investigation and analysis were carried ou in 5 aspects based on the original data and the information from the previous survey. These are: the incidences of congenital malformations in normal areas, the age distribution of children examined, the maternal age, the dates of birth of afflicted children, and the radiation exposure of mothers. The results suggested that the higher incidence of Down's syndrome in high background area might be related to the materal age. Further studies are needed to arrive at a conclusion
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6 tables.
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Journal Article
Journal
Chinese Journal of Radiological Medicine and Protection; CODEN ZFYZD; v. 5(2); p. 113-116
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Thomas, Philip; Harvey, Sarah; Gruner, Tini; Fenech, Michael, E-mail: philip.thomas@csiro.au, E-mail: michael.fenech@csiro.au2008
AbstractAbstract
[en] The buccal micronucleus cytome assay was used to investigate biomarkers for DNA damage, cell death and basal cell frequency in buccal cells of healthy young, healthy old and young Down's syndrome cohorts. With normal ageing a significant increase in cells with micronuclei (P < 0.05, average increase +366%), karyorrhectic cells (P < 0.001, average increase +439%), condensed chromatin cells (P < 0.01, average increase +45.8%) and basal cells (P < 0.001, average increase +233%) is reported relative to young controls. In Down's syndrome we report a significant increase in cells with micronuclei (P < 0.001, average increase +733%) and binucleated cells (P < 0.001, average increase +84.5%) and a significant decrease in condensed chromatin cells (P < 0.01, average decrease -52%), karyolytic cells (P < 0.001, average decrease -51.8%) and pyknotic cells (P < 0.001, average decrease -75.0%) relative to young controls. These changes show distinct differences between the cytome profile of normal ageing relative to that for a premature ageing syndrome, and highlight the diagnostic value of the cytome approach for measuring the profile of cells with DNA damage, cell death and proportion of cells with proliferative potential (i.e., basal cells). Significant correlations amongst cell death biomarkers observed in this study were used to propose a new model of the inter-relationship of cell types scored within the buccal micronucleus cytome assay. This study validates the use of a cytome approach to investigate DNA damage, cell death and cell proliferation in buccal cells with ageing
Primary Subject
Source
S0027-5107(07)00324-7; Available from http://dx.doi.org/10.1016/j.mrfmmm.2007.08.012; Copyright (c) 2007 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved.; Country of input: International Atomic Energy Agency (IAEA)
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Journal Article
Journal
Mutation Research; ISSN 0027-5107;
; v. 638(1-2); p. 37-47

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AbstractAbstract
No abstract available
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Published in summary form only.; CODEN: NRDYA.
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Journal Article
Journal
Neuroradiology; ISSN 0028-3940;
; v. 27(2); p. 186-187

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AbstractAbstract
[en] Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.)
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With 7 figs., 1 tab., 25 refs.
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Journal Article
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AbstractAbstract
[en] Three new cases of Desbuquois syndrome in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious skeletal dysplasia. Including the three presented patients and 10 of the 36 cases in the literature who died, most did so between birth and 7 months and from respiratory-related problems. Neonatal and infancy survivors should be monitored closely, particularly relative to their pulmonary status. (orig.)
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With 9 figs., 2 tabs., 10 refs.
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Journal Article
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AbstractAbstract
No abstract available
Original Title
Epulis. Eine seltene kongenitale Malformation
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Journal Article
Journal
RoeFo - Fortschritte auf dem Gebiete der Roentgenstrahlen und der bildgebenden Verfahren; ISSN 1438-9029;
; CODEN RFGNDO; v. 181(12); p. 1185-1186

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Barenfel'd, L.S.; Nergadze, S.G.; Andreeva, L.F.; Pleskach, N.M.
1. All-union conference on radiobiology. Vol. 11989
1. All-union conference on radiobiology. Vol. 11989
AbstractAbstract
[en] Short note
Original Title
Radiorezistentnyj sintez DNK pri geneticheskikh boleznyakh cheloveka: Novoe ob''yasnenie
Primary Subject
Source
AN SSSR, Moscow (USSR); 253 p; 1989; p. 90-91; 1. All-union conference on radiobiology; Moscow (USSR); 21-27 Aug 1989
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Miscellaneous
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Conference
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AbstractAbstract
[en] Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden
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Journal Article
Journal
Journal of Skin Cancer (Online); ISSN 2090-2913;
; v. 2011(2011); 6 p

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AbstractAbstract
[en] The results of five studies of the health of the population of a coastal strip of Kerala State, India are reported. The natural radioactivity of the sand subjects these people to an average irradiation of 4 mGy/year (400 mrad/year), four times the average for India. The evidence of one of these studies that irradiation causes Down's Syndrome is reviewed. It is concluded that the investigation had been insufficiently rigorous to be able to make this connection. (U.K.)
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Journal Article
Journal
Nucl. Energy; ISSN 0140-4067;
; v. 21(6); p. 399-408

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Chen, P.; Kidson, C.
10th AINSE radiation biology conference, 22-23 August 1985, Lucas Heights - AINSE Theatre1985
10th AINSE radiation biology conference, 22-23 August 1985, Lucas Heights - AINSE Theatre1985
AbstractAbstract
No abstract available
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Secondary Subject
Source
Australian Inst. of Nuclear Science and Engineering, Lucas Heights; 51 p; Aug 1985; p. 21; 10. AINSE radiation biology conference; Lucas Heights (Australia); 22-23 Aug 1985; Abstract only.
Record Type
Miscellaneous
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Conference
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