Abstract:
:Genetic analysis was performed on 72 Italian A-T families ascertained through 91 probands. The frequency of the A-T gene was estimated through Dahlberg's formula, which uses the frequencies of first cousin marriages among the patients' parents and in the general population were obtained from the collection of Catholic Church dispensations for the period 1910-1964. Accurate estimates of the disease frequency were made by subdividing data into 5-year periods and between provinces, in order to take into account temporal (decrease over time) and spatial (higher frequency in Southern Italy) heterogeneity. The estimate of the gene frequency for the whole sample was q = 0.012 +/- 0.0065, corresponding to a heterozygote frequency of 2.34% and to a disease frequency of 1 in 7090. When considering q before and after 1970, there was an apparent increase of heterozygote frequency from 1.69 to 3.43%, perhaps due to a better ascertainment of the disease in the latter period. A segregation ratio of 0.249 +/- 0.043 was obtained by analyzing the offspring of the 72 families under the model of incomplete multiple selection. This value is not significantly different from 0.25, as expected for an autosomal recessive disease.
journal_name
Int J Radiat Bioljournal_title
International journal of radiation biologyauthors
Chessa L,Lisa A,Fiorani O,Zei Gsubject
Has Abstractpub_date
1994-12-01 00:00:00pages
S31-3issue
6 Suppleissn
0955-3002issn
1362-3095journal_volume
66pub_type
杂志文章abstract:PURPOSE:The aim was to evaluate the utility of multiple blood-protein biomarkers for early-response assessment of radiation exposure using a murine radiation model system. MATERIAL AND METHODS:BALB/c male mice (8-10 weeks old) were exposed to whole-body 60Co gamma-rays (10 cGy min(-1)) over a broad dose range (0-7 Gy)...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:
更新日期:2009-01-01 00:00:00
abstract:PURPOSE:The purpose of this study was to assess the long-term effects of gamma-radiation, including low-dose radiation, on growth parameters of onion (Allium cepa) seedling roots 6-10 days after irradiation. MATERIALS AND METHODS:Onion seedlings were exposed to a 137Cs gamma source at doses ranging from 0.1 to 10 gray...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553002.2021.1844337
更新日期:2020-11-16 00:00:00
abstract:PURPOSE:To investigate the relationship between the susceptibility of B-chronic lymphoid leukaemia (B-CLL) cells to DNA damage-induced apoptosis, the kinetics of DNA strand-break rejoining, and chromosome damage after exposure to ionizing irradiation. MATERIALS AND METHODS:Lymphocytes from B-CLL patients were gamma-ir...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553000110120364
更新日期:2002-08-01 00:00:00
abstract::The past recommendations of the ICRP about dose limits to the skin are reviewed. Recently, an ICRP Task Group has been revisiting the old arguments and setting them against new data. With the exception of the function of cells in the skin associated with immunocompetence, non-stochastic effects have been well characte...
journal_title:International journal of radiation biology
pub_type: 杂志文章,评审
doi:10.1080/09553009014550961
更新日期:1990-04-01 00:00:00
abstract::The effect of gamma-radiation on aqueous solutions of saturated phospholipids, 1,2-dipalmitoyl-sn-glycero-3-phosphocholine (DPPC), 1,2-dipalmitoyl-sn-glycero-3-phosphoglycerol (DPPG), 1-palmitoyl-2-lyso-sn-glycero-3-phosphocholine (lysoPC), and bovine brain sphingomyelin (SM) has been investigated. It is shown that th...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530097143888
更新日期:1997-05-01 00:00:00
abstract:PURPOSE:To examine whether a simulated mobile telephone transmission at 915 MHz has an effect on cognitive function in man. MATERIALS AND METHODS:Thirty-six subjects in two groups were each given two training sessions and then three test sessions in a randomized three-way cross-over design. About 1 W mean power at 915...
journal_title:International journal of radiation biology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1080/095530099140375
更新日期:1999-04-01 00:00:00
abstract:PURPOSE:To present details of the recent version of the 'Local Effect Model' (LEM), that has been developed and implemented in treatment planning for the ion beam therapy pilot project performed at GSI Helmholtzzentrum für Schwerionenforschung in Darmstadt, Germany. MATERIALS AND METHODS:The new version of the model i...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.3109/09553002.2011.611213
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:High dose ionizing radiation exposure is associated with myelo-depression leading to pancytopenia and the expected clinical manifestations of acute radiation syndrome (ARS). Herein, we evaluated the efficacy of sargramostim (Leukine®, yeast-derived rhu GM-CSF), with regimens delivered at 48, 72, 96, or 120 h...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553002.2019.1673499
更新日期:2020-09-22 00:00:00
abstract:PURPOSE:To examine the protective effects of histamine on intestinal damage produced by gamma-radiation. MATERIALS AND METHODS:56 mice were divided into 4 groups. Histamine and Histamine-10 Gy groups received a daily subcutaneous histamine injection (0.1 mg/kg) starting 20 hours before irradiation and continued until ...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553000701570238
更新日期:2007-10-01 00:00:00
abstract:PURPOSE:The hemorrhagic syndrome is a major cause of morbidity and mortality associated with the acute radiation syndrome (ARS). We previously characterized the dose-response relationship for total body irradiation (TBI)-induced ARS in the New Zealand White (NZW) rabbit. Thrombocytopenia, hemorrhage, and anemia were st...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553002.2020.1820601
更新日期:2020-10-16 00:00:00
abstract::Mutations in the p53 tumour suppressor gene are found at high frequency in bladder cancer. There is strong evidence that p53 plays an important role in controlling the cell cycle after DNA damage by ionizing radiation. However, the effect of loss of p53 function on radiosensitivity is not yet clear. Radiotherapy combi...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530097143491
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND:Element-specific biokinetic models are used to reconstruct doses to systemic tissues from internal emitters. Typically, a systemic model for a radionuclide explicitly depicts only its dominant repositories. Remaining tissues and fluids are aggregated into a pool called Other tissue in which the radionuclide ...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553002.2018.1554923
更新日期:2018-12-04 00:00:00
abstract::The behaviour of polyamines (putrescine, spermidine and spermine) in the small intestine was studied in rats exposed to a single whole-body dose of 3 Gy administered at four different times of the day. Polyamine content decreased a few hours after irradiation but quickly returned to normal values. Putrescine levels re...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553008914551191
更新日期:1989-07-01 00:00:00
abstract::Primary chick embryo myoblasts can be a useful tool for studying the developmental events which accompany myoblast differentiation, particularly myoblast membrane fusion. To determine whether the electrical properties and/or fusion in these systems are affected by 50 Hz magnetic fields, chick embryo myoblast cultures ...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:
更新日期:1991-12-01 00:00:00
abstract:PURPOSE:To evaluate how irradiation affects thyroid autoimmunity in mouse models of Hashimoto's thyroiditis and Graves' hyperthyroidism. MATERIALS AND METHODS:Non-obese diabetic (NOD)-H2(h4) mice spontaneously develop anti-thyroglobulin (Tg) antibodies and thyroiditis when supplied with sodium iodine (NaI) in the drin...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553000802345910
更新日期:2008-09-01 00:00:00
abstract:PURPOSE:To propose an improved version of RADACK, a stochastic simulation of radiolytic attack on DNA, that takes into account the reactivity of each amino acid of a specifically bound protein with hydroxyl radicals. To apply it to the natural lactose operator-repressor complex taking advantage of recently reported str...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/0955300031000137788
更新日期:2003-06-01 00:00:00
abstract:PURPOSE:Animal models that accurately reflect human responses to radiation injury are needed for advanced mechanistic investigation and development of effective therapeutics. The rabbit is an established animal model accepted by the FDA for studies of cardiovascular disease, lipid metabolism, the development of anticoa...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553002.2020.1820606
更新日期:2020-10-26 00:00:00
abstract::Diploid elongated spermatids of mice were enriched by flow cytometry and cell sorting using a new type of sorter (Partec). The sorted abnormal spermatids were identified morphologically and by nuclear area integration. The radiation-induced increase in the frequency of diploid elongated spermatids was monitored with t...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553008914550841
更新日期:1989-05-01 00:00:00
abstract:PURPOSE:Effects of radiation on the differentiation of C2C12 myoblasts were studied using cell cultures in which the cells differentiated into either muscle cells or osteoblasts. MATERIALS AND METHODS:A mouse skeletal myoblast cell line, C2C12, was cultured and irradiated at confluence. Muscle differentiation was esti...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530000138745
更新日期:2000-03-01 00:00:00
abstract:PURPOSE:Hypoxic cells in tumours are resistant to 5-fluorouracil (5-FU). This in vivo study investigated the ability of hypoxia to regulate the gene expression of thymidylate synthase (TS), the target enzyme of 5-FU. MATERIALS AND METHODS:C3H mammary carcinomas, grown in the feet of female CDF1 mice, were used for all...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530099139944
更新日期:1999-07-01 00:00:00
abstract:PURPOSE:Caffeine (1,3,7-trimethyl xanthine), a dietary component, has been shown to have widely varying effects on DNA damage induced by UV and ionizing radiation, depending upon pre- or post-irradiation administration and its concentration. Caffeine administered post-UV irradiation is known to inhibit enzymatic repair...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553000110034649
更新日期:2001-05-01 00:00:00
abstract:PURPOSE:To investigate the induction of chromosomal aberrations in mouse m5S cells after exposure to power-line frequency magnetic fields (extremely low frequency magnetic fields; ELFMF) at high-flux densities. MATERIAL AND METHOD:m5S cells were either untreated or pretreated during the G1 phase with mitomycin C (MMC,...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553000050201172
更新日期:2000-12-01 00:00:00
abstract::The kinetic scheme of the reaction of desferrioxamine (DFO) with O2-. was studied using pulse and gamma-radiolysis. The rate constant k(O2-. + DFO) is equal to 1.3 +/- 0.1 x 10(6) dm3 mol-1s-1 at pH 7.4. Studying the competition between DFO and ferricytochrome-c for O2-. generated by gamma-radiolysis, we observed that...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553008914552381
更新日期:1989-12-01 00:00:00
abstract::Chromosomes are located within the interphase nucleus in regions called domains. Using fluorescence in situ hybridization with whole chromosome paints, a pain of homologous chromosomes can be visualized as two discrete domains and their relative spatial location determined. This study examines the effects of an ionizi...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530097143293
更新日期:1997-09-01 00:00:00
abstract::Mouse C3H 10T1/2 cells are most sensitive to radiation-induced neoplastic transformation in the G2/M-phase of the cell cycle. When synchronized 10T1/2 cells were exposed to phorbol 12-myristate 13-acetate (TPA) after irradiation, transformation of cells not in the transformation-sensitive window was enhanced, but tran...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553009314551971
更新日期:1993-12-01 00:00:00
abstract:PURPOSE:To investigate and compare the propensity of Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines (LCL) obtained from unaffected healthy individuals and ataxia telangectasia (A-T) patients to undergo apoptosis after X-ray exposure. MATERIAL AND METHODS:The LCL were exposed to 1-4 Gy X-rays at a dose-...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530099140041
更新日期:1999-06-01 00:00:00
abstract:PURPOSE:To determine the radiosensitivity difference of human Cluster of Differentiation (CD)4(+)CD25(+) regulatory T cells (Treg) and effector T cells to low dose gamma ray and elucidate the underlying mechanisms in vitro. MATERIALS AND METHODS:Blood samples were collected from five health subjects and five patients ...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.3109/09553002.2010.518208
更新日期:2011-01-01 00:00:00
abstract:PURPOSE:The purpose of this work was to determine whether the cellular components of Hairless-rat skin are affected by a chronic local exposure to non-ionizing radiations of Global Mobile Phone System: GSM-900 or -1800 radiations at specific absorption rate (SAR) 2.5 and 5 W/kg. MATERIALS AND METHODS:A selected part o...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553000600930087
更新日期:2006-09-01 00:00:00
abstract:PURPOSE:It has been proposed previously that the ratio of complete to incomplete translocations as seen by fluorescence in situ hybridization (FISH), the S value, can be a cytogenetic fingerprint of exposure to radiation of different qualities. Results from a previous study suggested that the S value is approximately 1...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/095530099140799
更新日期:1999-01-01 00:00:00
abstract::The role of protein kinase C in radiation-induced death of thymocytes was studied. For this purpose murine thymocytes were irradiated and incubated for 6 h at 37 degrees C and afterwards the fraction of fragmented DNA was measured. Results indicate that radiation-induced DNA fragmentation can be prevented by adding th...
journal_title:International journal of radiation biology
pub_type: 杂志文章
doi:10.1080/09553009214551471
更新日期:1992-05-01 00:00:00