Intraosseous hemangioma in parietal bone.
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Adult↗
Biomedical subjects
M Sasiadek
Publications and source records attributed to M Sasiadek.
Microsatellite and chromosome instability in squamous cell laryngeal carcinoma.
Head-and neck squamous cell carcinoma (HNSCC) represents almost 5% of all malignancies in Europe. The aetiology of HNSCC is complex, with both genetic and mutagenic factors involved. The aim of the present study was to investigate the loss of heterozygosity (LOH), mainly at tumour suppressor loci (using markers D1S2883, D2S123, D3S1611, D5S346, D7S501, D8S254, TP53, NM23), microsatellite instability (BAT25, 26, 40) and (bleomycin test) in patients with squamous cell larynx cancer. In a group of 20 patients LOH was observed mainly at the loci 3p (64.7%), 8q (71.4%), 17q (M1-30.8%, M2-25%, M3-38.5%). Despite chromosomal instability detected by bleomycin no microsatellite instability was observed.
Adaptor Proteins, Signal Transducing↗
Bleomycin-induced chromosome aberrations in head and neck cancer patients analyzed by classical cytogenetics and FISH.
Individual sensitivity to mutagens has been considered to play an important role in head-and-neck squamous cells carcinoma (HNSCC) development. The bleomycin test was introduced for establishing constitutional susceptibility to mutagens (T.C. Hsu, D.A. Johnston, L.M. Cherry, D. Ramkisson, S.P. Schantz, J.M. Jessup, R.J. Winn, L. Shirley, C. Furlong, Sensitivity to genotoxic effects of bleomycin in humans: possible relationship to environmental carcinogenesis, Int. J. Cancer 43 (1989) 403-409). Its criteria are based on scoring of chromosome aberrations (CAs, mainly breaks) in Giemsa-stained chromosomes. Fluorescence in situ hybridization (FISH) offers an easy method for analysis of translocations, acentric fragments and dicentrics. In the present study FISH was applied in the analysis of bleomycin-induced CAs of the HNSCC patients and controls. The results proved that FISH is a complementary method to the classical staining in monitoring of bleomycin-induced CAs.
Adult↗
The influence of GSTM1 and GSTT1 genotypes on the induction of sister chromatid exchanges and chromosome aberrations by 1,2:3,4-diepoxybutane.
Cytogenetic tests - chromosome aberrations (CA), sister chromatid exchanges (SCE) and micronuclei (MN) - are most often applied in biomonitoring of the genotoxicity of potentially carcinogenic chemicals in human cells. One of the extensively studied genotoxins is diepoxybutane (DEB) - reactive biometabolite of butadiene (BD). Several studies showed a high SCE induction in human lymphocytes exposed in vitro to various concentrations of DEB. DEB also proved to be a potent inducer of chromosome aberrations and micronuclei. A bimodal distribution of SCE frequency after in vitro DEB treatment was observed. The aim of the present study was to examine the ability of DEB to induce different individual cytogenetic response measured by SCE and CA frequency. The possible influence of genetic polymorphism has also been taken into account, by including donors representing positive or null GSTM1 and GSTT1 genotypes. Our study supported the earlier results showing that DEB is an effective inducer of SCEs and CAs, causing also the decrease in replication index (RI). DEB bioactivity measured by SCE induction - but not by CA test - was significantly higher in GSTT1 negative than in GSTT1 positive donors. GSTM1 polymorphism had no influence on these endpoints. The donors GSTT1-/GSTM1+ were shown to be slightly more sensitive to DEB than GSTT1-/GSTM1- individuals. There was also observed a unimodal distribution of DEB-induced SCEs and CAs in the group, despite the fact that the experiment was performed on the lymphocytes obtained from both GSTT1 positive and negative donors.
Adult↗
Microsatellite instability in thyroid papillary carcinoma and multinodular hyperplasia.
Microsatellite instability (MSI) is a molecular landmark of mutations in DNA mismatch repair genes. The impaired efficiency of DNA repair mechanisms promotes carcinogenesis as well as contributes to tumour progression. Until now, only few studies on MSI in thyroid tumours have been published. Therefore, the aim of the present study was to investigate MSI as a possible characteristic feature of thyroid tumours. The analysis of 12 thyroid papillary carcinomas and 17 multinodular hyperplasias at 13 microsatellite loci showed MSI and loss of heterozygosity (LOH) in both types of lesion, with more alterations noted in the papillary thyroid carcinomas (in 65%) than in multinodular hyperplasia (in 35%). In carcinomas, LOH occurred more frequently than MSI, while in multinodular hyperplasia the LOH/MSI ratio is almost equal.
Adolescent↗
[Aspergillus spondylodiscitis].
Four weeks after an Amanita phalloides poisoning, a 29-year-old man presented an ocular aspergillosis. One month later he developed a bilateral L5-S1 radicular syndrome. The diagnosis of aspergillar spondylodiscities was established on the basis of x-ray, CT-scan, MRI and pathology findings. Clinical and radiological improvement was obtained with fluconazole.
Adult↗
[Poland's syndrome].
Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.
Adult↗
[Apolipoprotein E(ApoE)and tau protein in Alzheimer type dementia].
In 45 patients meeting NINCDS-ARDRA criteria for probably diagnosis of Alzheimer disease (AD), ApoE genotype and tau protein level in cerebro-spinal fluid (CSF) were determined. Frequency of e4 allele occurrence in group of AD patients was 73.3% and showed high statistic significance in comparison with control group. Increase of tau protein level in CSF was also statistically significant. No correlation in ApoE allele and tau protein level in CSF was revealed. The authors emphasize the usefulness of tau protein level measurement and determination of ApoE allele in diagnosis of Alzheimer disease.
Aged↗
Our own experience with CT angiography in early diagnosis of cerebral vascular malformations.
Computed tomography (CT) and intraarterial cerebral angiography are essential methods in early diagnosis of cerebral vascular malformations. In recent years however non-invasive or minimally invasive methods like MR angiography and CT angiography (CTA), which could potentially replace angiography, have been developed. The aim of presented study is to demonstrate our own experience in application of CTA in early diagnosis of cerebral vascular malformations. The material consists of 86 CTA examinations performed shortly after non-traumatic intracranial haemorrhage. Angiographic correlation has been available in 23 patients and surgical one--in 31 cases. CTA studies began with serio-CT to select the optimal time between contrast injection and CT scanning. After that 100-120 ml of non-ionic contrast medium was injected intravenously (5 ml per sec.) and spiral CT acqusition was performed with the delay calculated on the basis of the serio-CT. The obtained images were postprocessed on the workstation using always MIP and in many cases also SSD and VRT reconstructions. Vascular malformations have been diagnosed in 44 of 86 CTA studies including 38 patients with aneurysms (total number 51) and 6 patients with AVMs. In 17 cases the diameter of the aneurysm did not exceed 5 mm. In all surgical cases the CTA diagnosis of the aneurysm has been confirmed. There was however one false-negative case. On the other hand in 7 patients CTA revealed the small aneurysm, despite unclear angiographic appearance. In 2 of 6 patients with CTA suspicion of AVM this diagnosis has been excluded either by angiography or surgery. Comparison of CTA and angiography in 22 aneurysms showed in 17 cases superiority of CTA in evaluation of aneurysmal neck and the relationship between aneurysm and adjacent vessels (especially with VRT and SSD reconstructions). In patients with AVMs however the evaluation of supplying and draining vessels was better with angiography. On the base of our material we can conclude that CTA is very efficient in detecting and evaluating the aneurysms. We believe that CTA can replace angiography if it reveals aneurysm in a site corresponding with location of haemorrhage on CT. In patients with suspicion of AVM value of CTA is doubtful and angiography remains the method of choice.
Cerebral Angiography↗
Glutathione S-transferase M1 genotype influences sister chromatid exchange induction but not adaptive response in human lymphocytes treated with 1,2-epoxy-3-butene.
Induction of sister chromatid exchanges (SCEs) by 1,2-epoxy-3-butene (monoepoxybutene, MEB), an epoxide metabolite of 1,3-butadiene, in human whole-blood lymphocyte cultures has previously been observed to depend on the glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) genotype of the blood donor. Pretreatment of lymphocyte cultures with a low dose of MEB has been shown to reduce the SCE response obtained by later treatment with a higher concentration of MEB. To investigate whether this adaptive response depends on the GSTM1 genotype of the donor, SCE induction by MEB (25 and 250 microM at 48 h for 24 h) was studied from whole-blood lymphocyte cultures of young non-smoking male and female subjects representing GSTM1 positive (n=7) and null (n=7) genotypes, with or without a MEB pretreatment (12.5 microM at 24 h). A higher mean number of induced SCEs per cell at 250 microM MEB was observed in lymphocytes of the GSTM1 null than positive donors, a statistically significant difference being obtained in the presence of the adaptive treatment (9.44 vs. 6.56; results from ethanol-treated controls subtracted). The pretreatment resulted in a statistically significant reduction in the response of the GSTM1 null group at both concentrations of MEB and in the GSTM1 positive group at 250 microM. However, there were no statistically significant differences in the adaptive response of the two genotypes. In conclusion, the present study further supported earlier findings on an increased sensitivity of GSTM1 null donors to SCE induction by MEB, suggesting that GSTM1 is involved in the detoxification of MEB in human lymphocyte cultures. As an adaptive response was observed in both GSTM1 positive and null donors, the phenomenon cannot be explained by GSTM1 induction. It may represent induction of other enzymes operating in MEB detoxification, or activation of DNA repair.
Adaptation, Physiological↗
[Y-specific sequences in Turner syndrome].
Turner Syndrome (TS) is the only one monosomy that occurrs+ in humans. The cytogenetics of TS is very well known from years. It has been estimated that almost 98-99% of TS foetuses end in abortion. It was suggested that the monosomy arises relatively late during embryonal development and survived TS individuals could be mosaics. It has been proved that mosaic karyotype mos 45,X/46X, + mar(Y) occurrs++ in 2% to 11% of TS patients. The patients having additional cell line containing der(Y) are at increased risk of gonadoblastoma development. In these cases gonadectomy should be considered. Therefore detection of mosaic and establishing the origin of marker chromosome (specially containing Y-specific sequences) is of special importance. The aim of present study was to detect the small mosaics, containing mar(Y) in TS patients, by using PCR and FISH techniques. Eight Y sequences for the PCR analyses as well as bicolor in situ hybridisation with painting probes for Y and X chromosomes have been applied. The positive amplification for Y-specific sequences has been detected in 7% of TS patients. Our results support the thesis that searching for the Y sequences should be introduced to routine genetic TS diagnosis.
Adolescent↗
Classical and molecular cytogenetics in analysis of diepoxybutane-induced chromosome aberrations.
The genotoxic properties of diepoxybutane (DEB) have been extensively studied by many authors. The most often investigated endpoints were sister chromatid exchanges (SCE) and micronuclei (MN), and less frequently, chromosome aberrations (CAs). In the present study, the analysis of CAs induced by DEB in vitro on human whole blood lymphocytes was performed by using three methods of chromosome visualisation: Giemsa-staining, GTG banding and chromosome painting (FISH). The results showed that DEB is a very efficient clastogenic agent and induces chromosome breaks and gaps as well as tri- and quadriradials (observed by using classical cytogenetic methods) together with acentrics (observed by using FISH) on the statistically significant level, as compared to controls (chi2-test, p<10-5). The analysis of GTG-banded metaphases revealed that the break-points were distributed non-randomly within the chromosomes and located mainly in 1p, 1q, 2p, 2p, 6q, 9q and 14q (p<10-6). In conclusion it can be stated, that methods applied in this work are complementary and can be used successfully for estimation of the clastogenic potential of the tested chemical.
Azure Stains↗
Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).
We report the characterization by traditional cytogenetic methods and fluorescence in situ hybridization (FISH) of a rare balanced reciprocal translocation t(3;21) in a male spouse connected with several miscarriages. G- and C-banding analysis of the male karyotype was suggestive of breakpoints in chromosomal bands 3q11.1 and 21p11.1. Multicolor-FISH analysis using chromosome-specific alpha-satellite probes in combination with a locus-specific bacterial artificial chromosome (BAC) from 21q22.3 allowed us both to identify the origin of centromeres in the derivative chromosomes and to establish centromere-telomere orientation of the translocated chromosome 21 segment. Characterization of the translocated chromosomes by FISH analysis permitted describing the exact karyotype of the carrier as: 46,XY,-3,-21,+der(3)(21qterO21q11. 2::3p11.2O cenO3qter),+der(21)(3pterO3p11.2::21q11.2OcenO21pte r).
Abortion, Spontaneous↗
[Trinucleotide repeats polymorphism of the androgenic receptor gene in the detection of carriers of androgen insensitivity syndrome].
Androgen insensitivity syndrome (AIS) is caused by mutation in androgen receptor (AR) gene. This phenomenon leads to the defect of the virilization of the external genitalia and is one of the causes of human male pseudohermaphroditism. Molecular diagnosis of AR gene mutations is very complex because of heterogeneity of AR mutations. AIS is X-linked recessive trait and therefore the simple diagnosis of AIS carriers is a very important problem. Detection of AIS carriers by using the analysis of CAG repeating sequence polymorphism of exon 1 or AR gene is reported.
Adult↗
Correlation between the adaptive response and individual sensitivity to monoepoxybutene in in vitro experiments on human lymphocytes.
Individual variations in the susceptibility to mutagenic/carcinogenic chemicals depend on the activity of xenobiotic metabolizing enzymes and on DNA- and chromosome-damage repair systems. Monoepoxybutene (MEB) is a genotoxic metabolite of 1,3-butadiene (BD), which has been classified as a probable carcinogen in humans. The purpose of the present study was to investigate by in vitro experiments on human whole blood lymphocytes (WBL), whether an individual sensitivity to MEB correlates with the adaptive response to the tested agent. In the analyzed group, 8.3% of blood donors were relatively sensitive to MEB. The comparison of SCE induction in cultures pretreated and not pretreated with an adaptive dose (AD) of MEB showed, that there was an adaptive response to MEB. The adaptive response in the group of relatively sensitive donors was similar to that of the relatively resistant ones. This result suggests that individual sensitivity to the tested agent and adaptive response depend on different biological mechanisms.
Adaptation, Physiological↗
[Sarcoidosis with involvement of the central nervous system].
Two cases of lungs and mediastinal lymph nodes sarcoidosis with involvement of central and peripheral nervous system were described. In one patient the vascular type of neurosarcoidosis was diagnosed, in another-the inflammatory type, with pyramidal and cerebellar symptoms and severe peripheral changes. Both cases were illustrated with MRI scans.
Brain Diseases↗
[Coexistence of migraine and glaucoma-like visual field defects].
PURPOSE: Functional and morphological evaluation of the optic nerve heads in patients suffering from migraine. MATERIAL AND METHODS: 21 patients--13 women and 8 men (mean age 40 +/- 10) with neurologically confirmed diagnosis of common and classic migraine were examined. The headache history was obtained by standard questions. The patients suffered from migraine from 2 to 30 years and the frequency of attacks was from < 10 to > 100/year. Ophthalmologic examination involved evaluation of visual acuity, anterior segment, irido-corneal angle, retina and optic disc. In all cases optic disc photography, diurnal tension curve and two central visual field examinations with Octopus 101 programm G2 were performed. RESULTS: In all cases IOP was normal (< 21 mm Hg). In 4 eyes (2 patients) there was early glaucomatous-like damage of the optic disc, without visual field defect. In most of these patients the optic nerve head looked normal, in part of them slightly pale. In 28% patients glaucomatous-like visual field defects were found (MD-3.9 dB to 6.6 dB). There was statistically significant relationship between increase of MD and frequency of migraine attacks (Mann-Withney U test, a = 0.05). CONCLUSIONS: Static perimetry of the central visual field has high diagnostic value in ocular vasospastic syndrome. Functional dysregulation of the optic nerve head circulation in patients with migraine might be involved in the pathogenesis of normal-tension glaucoma.
Adolescent↗
[Cytogenetic analysis in couples with spontaneous abortions].
Cytogenetic studies were performed in 129 couples with the history of recurrent spontaneous miscarriages. In 8 couples (6.2%) chromosome aberrations were found The most frequent aberrations were reciprocal translocations (in 6 couples). Pericentric inversion of chromosome 9 was detected in 3 couples (2.3%) while the chromosome polymorphism was observed in 20% of analyzed cases.
Abortion, Habitual↗