Displaying publications 41 - 60 of 67 in total

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  1. Ahzad Hadi Ahmad, Rabiatul Basria S.M.N. Mydin, Nur Ain Nisrina Roan, Abdul Rahman Azhari, Narazah Mohd Yusoff
    MyJurnal
    Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syn- drome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifesta- tions. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.

    Matched MeSH terms: Sex Chromosome Aberrations
  2. Huzairi Sani, Nada Syazana Zulkufli
    MyJurnal
    Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early.
    Matched MeSH terms: Sex Chromosome Aberrations
  3. Rosli AA, Azlan A, Rajasegaran Y, Mot YY, Heidenreich O, Yusoff NM, et al.
    Clin Exp Med, 2023 Aug;23(4):1137-1159.
    PMID: 36229751 DOI: 10.1007/s10238-022-00913-1
    Chromosomal abnormalities in acute myeloid leukemia (AML) have significantly contributed to scientific understanding of its molecular pathogenesis, which has aided in the development of therapeutic strategies and enhanced management of AML patients. The diagnosis, prognosis and treatment of AML have also rapidly transformed in recent years, improving initial response to treatment, remission rates, risk stratification and overall survival. Hundreds of rare chromosomal abnormalities in AML have been discovered thus far using chromosomal analysis and next-generation sequencing. As a result, the World Health Organization (WHO) has categorized AML into subgroups based on genetic, genomic and molecular characteristics, to complement the existing French-American classification which is solely based on morphology. In this review, we aim to highlight the most clinically relevant chromosomal aberrations in AML together with the technologies employed to detect these aberrations in laboratory settings.
    Matched MeSH terms: Chromosome Aberrations
  4. Musa M, Mohd Ali K, Kannan TP, Azlina A, Omar NS, Chatterji A, et al.
    Cell J, 2015;17(2):253-63.
    PMID: 26199904
    OBJECTIVE: Perivitelline fluid (PVF) of the horseshoe crab embryo has been reported to possess an important role during embryogenesis by promoting cell proliferation. This study aims to evaluate the effect of PVF on the proliferation, chromosome aberration (CA) and mutagenicity of the dental pulp stem cells (DPSCs).

    MATERIALS AND METHODS: This is an in vitro experimental study. PVF samples were collected from horseshoe crabs from beaches in Malaysia and the crude extract was prepared. DPSCs were treated with different concentrations of PVF crude extract in an 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay (cytotoxicity test). We choose two inhibitory concentrations (IC50 and IC25) and two PVF concentrations which produced more cell viability compared to a negative control (100%) for further tests. Quantitative analysis of the proliferation activity of PVF was studied using the AlamarBlue®assay for 10 days. Population doubling times (PDTs) of the treatment groups were calculated from this assay. Genotoxicity was evaluated based on the CA and Ames tests. Statistical analysis was carried out using independent t test to calculate significant differences in the PDT and mitotic indices in the CA test between the treatment and negative control groups. Significant differences in the data were P<0.05.

    RESULTS: A total of four PVF concentrations retrieved from the MTT assay were 26.887 mg/ml (IC50), 14.093 mg/ml (IC25), 0.278 mg/ml (102% cell viability) and 0.019 mg/ml (102.5% cell viability). According to the AlamarBlue®assay, these PVF groups produced comparable proliferation activities compared to the negative (untreated) control. PDTs between PVF groups and the negative control were insignificantly different (P>0.05). No significant aberrations in chromosomes were observed in the PVF groups and the Ames test on the PVF showed the absence of significant positive results.

    CONCLUSION: PVF from horseshoe crabs produced insignificant proliferative activity on treated DPSCs. The PVF was non-genotoxic based on the CA and Ames tests.

    Matched MeSH terms: Chromosome Aberrations
  5. Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, et al.
    Neuron, 2020 Apr 22;106(2):237-245.e8.
    PMID: 32097630 DOI: 10.1016/j.neuron.2020.01.027
    Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate CEP85L as an important cause of posterior predominant LIS, identifying 13 individuals with rare, heterozygous CEP85L variants, including 2 families with autosomal dominant inheritance. We show that CEP85L is a centrosome protein localizing to the pericentriolar material, and knockdown of Cep85l causes a neuronal migration defect in mice. LIS1 also localizes to the centrosome, suggesting that this organelle is key to the mechanism of posterior predominant LIS.
    Matched MeSH terms: Chromosome Aberrations
  6. Julia Mohd Idris, Zariyantey Abd Hamid, Ng, Khen Eng, Chow, Paik Wah, Salwati Shuib, Mathialagan, Ramya Dewi
    MyJurnal
    Benzene exposure has been associated with hematotoxicity and leukemogenicity. However, the impact of benzene exposure on complex microenvironment of Hematopoetic Stem Cells (HSCs) niche, comprising of HSCs and lineage-specific progenitors remains elusive. Thus, a study on benzene-targeting HSCs niche could uncover mechanism linking benzene to HSCs niche alteration. This study evaluates the lineage-specific responses following exposure to a benzene metabolite, namely hydroquinone (HQ) in targeting HSCs and myeloid-committed progenitors. Freshly isolated murine bone marrow cells (BMCs) were exposed to HQ at series of concentrations (0 – 50 μM) for 24 hours; followed by cell viability analysis using MTT assay. Chromosomal aberration (CA) status was determined using karyotyping analysis. Expression of surface antigen for HSCs (Sca-1) was confirmed by flow cytometer. Lineage-specific myelotoxicity was studied using the colony-forming unit (CFU) assay for the following myeloid progenitors: CFU granulocyte /erythrocyte /macrophage /megakaryocyte (CFU-GEMM), CFU-granulocyte/macrophage (CFU-GM), CFU-granulocyte (CFU-G), CFU-macrophage (CFU-M), CFU-erythroid (CFU-E) and Burst-forming unit erythroid (BFU-E). HQ reduced (p
    Matched MeSH terms: Chromosome Aberrations
  7. Phan, CL, Zubaidah, Z., Gregory, A.R.A., Ten, SK, Kamariah, M.N., Thilagavathi, S., et al.
    Medicine & Health, 2006;1(1):36-44.
    MyJurnal
    Fragile X syndrome is a result of an unstable expansion of (CGG)n trinucleotide sequences in the FMR-1 (Fragile X Mental Retardation 1) gene site at Xq27. In a normal person, n ranges from 6 to 40 repeats with an average of 30 repeats, whereas in a mutated FMR1 gene the sequence is repeated several times over (stuttering gene). Full mutation occurs when n equals 200 repeats or more. Where n equals 50 to 200 repeats, it is a premutation. Fragile X occurs when the FMR-1 gene is unable to make normal amounts of usable Fragile X Mental Retardation Protein, or FMRP. The amount of FMRP in the body is one factor that determines the severity of the Fragile X syndrome. A person with nearly normal levels of FMRP usually has mild or no symptoms, while a person with very little or no normal FMRP has more severe symptoms. The mechanism for the role of the FMRP gene is still being researched upon. However, it has been observed that large numbers of repeats (more than 200) inactivates the gene through a process of methylation and when the gene is inactivated, the cell may make little or none of the needed FMRP. Inheritance is X-linked with reduced penetrance and the frequency of occurrence goes up through generations. The phenotypic manifestations of fragile-X syndrome vary and are largely dependent on the size of the mutation or premutation. The identification of the fragile site on G banded metaphases is a time consuming and delicate process requiring experience and skill, however, molecular diagnosis using DNA analysis and Southern blotting, even though expensive, is more specific in determining the presence or absence of the gene. This study was aimed to establish a rapid polymerase chain reaction (PCR) based - touch down PCR, as a screening method for fragile X syndrome. A total of six cases were analysed. Of these, one was a known case of Fragile X (T1) diagnosed by conventional cytogenetics, two were from the latter’s family members namely, his mother (T2) and father (T3), and the other two (T4 and T5) were randomly selected from patients presenting with dysmorphic features and delayed development respectively. One normal control (TC) was included. Cytogenetic analyses for detection of the fragile site was carried out in all cases. Two culture systems were used, namely the synchronised lymphocyte culture and the folate - thymidine deficient culture. Stained metaphases from the fragile X cultures were screened for the presence of the fragile site on the X chromosome. G-banded karyotyping was done using an image analyser to exclude presence of chromosomal abnormalities. DNA was extracted from these samples and amplified by touch-down PCR. Cytogenetic analysis revealed a folate-sensitive fragile site in the affected male, but none in the other five samples. G-banded karyotyping exhibited no additional chromosomal abnormalities. All extracted DNA samples were successfully amplified. Five of the samples showed presence of the product at the expected band at 552bp, excluding the presence of an expansion of CGG segment of the FMR-1 gene. The absence of a band in an affected individual, suggested a fully mutated allele of FRAXA (Folate Sensitive Fragile Site at Xq28). We succeeded in establishing a slightly modified touch-down PCR analysis. Our study indicates that PCR testing offers a rapid and specific method for screening of normal allele and full mutation of the fragile X gene. We suggest this technique to be applied as a complementary tool for cytogenetic analysis to detect the FRAXA gene.
    Matched MeSH terms: Chromosome Aberrations
  8. Akinboro A, Mohamed KB, Asmawi MZ, Othman AS, Ying TH, Maidin SM
    Drug Chem Toxicol, 2012 Oct;35(4):412-22.
    PMID: 22149219 DOI: 10.3109/01480545.2011.638300
    The role of diets in causing cancers necessitates the ongoing search for natural antimutagens of promising anticancer therapeutics. This study determined the potential anticancer efficacy of the leaf extract of Myristica fragrans (Houtt.). Methanol leaf extract of M. fragrans (Houtt.) alone was screened for mutagenicity in the bacterial reverse mutation (Ames) test, using the Salmonella typhimurium TA100 strain, the Allium cepa, and the mouse in vivo bone marrow micronucleus tests. The antimutagenicity of this extract against benzo[a]pyrene- and cyclophosphamide-induced mutations was evaluated. An antioxidant test on the extract was performed with 2,2-diphenyl-1-picrylhydrazyl, using butylated hydroxyanisole (BHA) and butylated hydroxytoluene (BHT) as the standards, whereas its phytochemicals were elucidated by following the gas chromatography/mass spectrometry protocol. In S. typhimurium (TA100), the mutagenicity ratio at 200,500 and 1,000 µg/well was >2. Cell division in the A. cepa root tips and mouse bone marrow was significantly (P ≤ 0.05) inhibited at 2,000 and 4,000 mg/kg, whereas the observed chromosomal aberrations and micronucleated polychromatic erythrocytes were non-dose-related and were insignificantly (P ≥ 0.05) different from the negative control. Inhibition of benzo[a]pyrene- and cyclophosphamide-induced mutagenicity by this extract was above 40%. Half-maximal inhibitory concentration of the extract in the antioxidant test was lower than that of BHA and BHT. Phytochemical compounds, possessing antioxidant activity, may be responsible for the observed effects, suggesting a strong antimutagenic activity of the MeOH leaf extract of M. fragrans, a necessary characteristic of a promising anticancer agent.
    Matched MeSH terms: Chromosome Aberrations/chemically induced
  9. Lambert DM
    J Hered, 1976 3 1;67(2):92-8.
    PMID: 5483
    The salivary chromosomes of four species of the nasuta complex of Drosophila, D. sulfurigaster albostrigata, D, kohkoa, D. albomicans, and D. kepulauana were studied and chromosome maps of each species are presented; the maps of the latter three species are based on the map of D. sulfurigaster albostrigata. Three of the species D. sulfurigaster albostrigata, D. albomicans, and D. kohkoa were shown to be highly polymorphic for chromosomal inversions while the available evidence indicated that D. kepulauana is much less polymorphic. These facts are correlated with the geographic distribution of the species. Transitional homoselection has not been complete in the evolution of three of the species since D. sulfurigaster albostrigata, D. kohkoa, and D. albomicans have a number of naturally occurring polymorphisms in common.
    Matched MeSH terms: Chromosome Aberrations*
  10. Tan SN, Sim SP, Khoo AS
    Hum Genomics, 2018 06 18;12(1):29.
    PMID: 29914565 DOI: 10.1186/s40246-018-0160-8
    BACKGROUND: The mechanism underlying chromosome rearrangement in nasopharyngeal carcinoma (NPC) remains elusive. It is known that most of the aetiological factors of NPC trigger oxidative stress. Oxidative stress is a potent apoptotic inducer. During apoptosis, chromatin cleavage and DNA fragmentation occur. However, cells may undergo DNA repair and survive apoptosis. Non-homologous end joining (NHEJ) pathway has been known as the primary DNA repair system in human cells. The NHEJ process may repair DNA ends without any homology, although region of microhomology (a few nucleotides) is usually utilised by this DNA repair system. Cells that evade apoptosis via erroneous DNA repair may carry chromosomal aberration. Apoptotic nuclease was found to be associated with nuclear matrix during apoptosis. Matrix association region/scaffold attachment region (MAR/SAR) is the binding site of the chromosomal DNA loop structure to the nuclear matrix. When apoptotic nuclease is associated with nuclear matrix during apoptosis, it potentially cleaves at MAR/SAR. Cells that survive apoptosis via compromised DNA repair may carry chromosome rearrangement contributing to NPC tumourigenesis. The Abelson murine leukaemia (ABL) gene at 9q34 was targeted in this study as 9q34 is a common region of loss in NPC. This study aimed to identify the chromosome breakages and/or rearrangements in the ABL gene in cells undergoing oxidative stress-induced apoptosis.

    RESULTS: In the present study, in silico prediction of MAR/SAR was performed in the ABL gene. More than 80% of the predicted MAR/SAR sites are closely associated with previously reported patient breakpoint cluster regions (BCR). By using inverse polymerase chain reaction (IPCR), we demonstrated that hydrogen peroxide (H2O2)-induced apoptosis in normal nasopharyngeal epithelial and NPC cells led to chromosomal breakages within the ABL BCR that contains a MAR/SAR. Intriguingly, we detected two translocations in H2O2-treated cells. Region of microhomology was found at the translocation junctions. This observation is consistent with the operation of microhomology-mediated NHEJ.

    CONCLUSIONS: Our findings suggested that oxidative stress-induced apoptosis may participate in chromosome rearrangements of NPC. A revised model for oxidative stress-induced apoptosis mediating chromosome rearrangement in NPC is proposed.

    Matched MeSH terms: Chromosome Aberrations
  11. Lee YL, Zaini AA, Idris AN, Abdullah RA, Wong JS, Hong JS, et al.
    J Paediatr Child Health, 2023 Jul;59(7):879-884.
    PMID: 37066819 DOI: 10.1111/jpc.16405
    AIMS: Knowledge on the spectrum of thyroid disorders amongst Turner syndrome (TS) patients in Southeast Asia is limited. This study aimed to evaluate the prevalence of thyroid autoimmunity, the spectrum of autoimmune thyroid disease and association with age and karyotype amongst Malaysian TS girls.

    METHODS: A cross-sectional study was conducted at 11 paediatric endocrine units in Malaysia. Blood samples for antithyroglobulin antibodies, antithyroid peroxidase antibodies and thyroid function test were obtained. In patients with pre-existing thyroid disease, information on clinical and biochemical thyroid status was obtained from medical records.

    RESULTS: Ninety-seven TS patients with a mean age of 13.4 ± 4.8 years were recruited. Thyroid autoimmunity was found in 43.8% of TS patients. Nineteen per cent of those with thyroid autoimmunity had autoimmune thyroid disease (Hashimoto thyroiditis in 7.3% and hyperthyroidism in 1% of total population). Patients with isochromosome X and patients with 45,X mosaicism or other X chromosomal abnormalities were more prone to have thyroid autoimmunity compared to those with 45,X karyotype (OR 5.09, 95% CI 1.54-16.88, P = 0.008 and OR 3.41, 95% CI 1.32-8.82, P = 0.01 respectively). The prevalence of thyroid autoimmunity increased with age (33.3% for age 0-9.9 years; 46.8% for age 10-19.9 years and 57.1% age for 20-29.9 years) with autoimmune thyroid disease detected in 14.3% during adulthood.

    CONCLUSION: Thyroid autoimmunity was significantly associated with the non 45,X karyotype group, particularly isochromosome X. Annual screening of thyroid function should be carried out upon diagnosis of TS until adulthood with more frequent monitoring recommended in the presence of thyroid autoimmunity.

    Matched MeSH terms: Chromosome Aberrations
  12. Noriah Jamal, Bo, Nelly Nai Lee, Rahimah Abdul Rahim, Noraisyah Yusof, Yahaya Talib, Hasmadi Hassan, et al.
    MyJurnal
    The blooming use of ionizing radiation in industry, research, agriculture, medicine and nuclear industry increases the risk of overexposure for radiation workers as well as members of the public. Ionizing radiation is a strong clastogen, causing chromosome breakage, and resulting in cytogenetic aberrations in exposed cells. Cytogenetic analysis of human blood lymphocytes has been widely used as the biological technique for quantifying radiation dose in man. In the investigation of radiation accident, it is important to estimate the dose absorbed by the exposed person in order for the attending medical doctor to plan for their therapy. This paper reviews the current status on cytogenetic biodosimetry methods for radiation dose assessment.
    Matched MeSH terms: Chromosome Aberrations
  13. Ramachandram S, Keng WT, Ariffin R, Ganesan V
    J Genet, 2013;92(2):313-6.
    PMID: 23970090
    Matched MeSH terms: Sex Chromosome Aberrations
  14. Mattick J, Libro S, Bromley R, Chaicumpa W, Chung M, Cook D, et al.
    PLoS Negl Trop Dis, 2021 Oct;15(10):e0009838.
    PMID: 34705823 DOI: 10.1371/journal.pntd.0009838
    The sequence diversity of natural and laboratory populations of Brugia pahangi and Brugia malayi was assessed with Illumina resequencing followed by mapping in order to identify single nucleotide variants and insertions/deletions. In natural and laboratory Brugia populations, there is a lack of sequence diversity on chromosome X relative to the autosomes (πX/πA = 0.2), which is lower than the expected (πX/πA = 0.75). A reduction in diversity is also observed in other filarial nematodes with neo-X chromosome fusions in the genera Onchocerca and Wuchereria, but not those without neo-X chromosome fusions in the genera Loa and Dirofilaria. In the species with neo-X chromosome fusions, chromosome X is abnormally large, containing a third of the genetic material such that a sizable portion of the genome is lacking sequence diversity. Such profound differences in genetic diversity can be consequential, having been associated with drug resistance and adaptability, with the potential to affect filarial eradication.
    Matched MeSH terms: Chromosome Aberrations
  15. Tan PH, Lui WO, Ong P, Lau LC, Tao M, Chong Y
    Cancer Genet. Cytogenet., 2000 Aug;121(1):61-6.
    PMID: 10958943
    Tumor cytogenetic analysis from 27 patients with breast cancer diagnosed at the Singapore General Hospital revealed complex karyotypic aberrations in 12 cases. The study group comprised 25 women and 2 men, ranging in age from 33 to 78 years (median 52 years). Ethnic distribution consisted of 22 Chinese, 3 Malaysian, and 2 Indian patients. Pathologic assessment disclosed 24 invasive ductal, 2 invasive mucinous, and 1 mixed invasive mucinous and ductal carcinomas. Histologic grading showed 3 grade 1, 10 grade 2, and 12 grade 3 tumors; 2 cancers were not graded, because they had been subjected to prior chemotherapy. Tumor sizes ranged from 1.5 to 10 cm (median 3 cm). Eleven cases were axillary node negative, whereas the remaining 16 node-positive cancers affected as many as 3 nodes in 8 cases and 4 or more nodes in another 8. Twenty cases demonstrated estrogen-receptor positivity, and 8 cases progesterone-receptor positivity. The spectrum of cytogenetic abnormalities involved chromosomes 1, 3, 6, 7, 8, 11, 16, and 17 and ranged from gains and deletions of both long and short arms, trisomy, monosomy, and other rearrangements. There was a trend toward the presence of karyotypic abnormalities in tumors of higher grade.
    Matched MeSH terms: Chromosome Aberrations
  16. Khalid F, Chong LA
    Indian J Palliat Care, 2019 3 2;25(1):135-141.
    PMID: 30820116 DOI: 10.4103/IJPC.IJPC_111_18
    Objective: The objective of this study was to estimate palliative care needs and to describe the cohort of children with life-limiting illnesses (LLI) dying in hospitals.

    Design: This study was a retrospective cohort study. The national hospital admissions database was reviewed and children who had died who had life-limiting illnesses were identified.

    Setting: This study was conducted at Ministry of Health hospitals, Malaysia.

    Patients: Children aged 18 years and below who had died between January 1, 2012 and December 31, 2014.

    Main Outcome Measures: Life-limiting diagnoses based on Hain et al.'s directory of LLI or the ACT/RCPCH categories of life-limiting disease trajectories.

    Results: There were 8907 deaths and 3958 (44.4%) were that of children with LLI. The majority, 2531 (63.9%) of children with LLI were neonates, and the most common diagnosis was extreme prematurity <28 weeks with 676 children (26.7%). For the nonneonatal age group, the median age at admission was 42 months (1-216 months). A majority, 456 (32.0%) had diagnoses from the ICD-10 chapter "Neoplasms" followed by 360 (25.3%) who had a diagnoses from "Congenital malformations, deformations, and chromosomal abnormalities" and 139 (9.7%) with diagnoses from "Disease of the nervous system." While a majority of the terminal admissions were to the general ward, there were children from the nonneonatal age group, 202 (14.2%) who died in nonpediatric wards.

    Conclusion: Understanding the characteristics of children with LLI who die in hospitals could contribute toward a more efficient pediatric palliative care (PPC) service development. PPC service should include perinatal and neonatal palliative care. Palliative care education needs to extend to nonpediatric healthcare providers who also have to manage children with LLI.

    Matched MeSH terms: Chromosome Aberrations
  17. Chen TI, Zhuang HW, Chiao YC, Chen CC
    J Ethnopharmacol, 2013 Aug 26;149(1):70-4.
    PMID: 23773827 DOI: 10.1016/j.jep.2013.06.001
    Lignosus rhinocerotis mushroom is widely used as traditional medicine and as soup ingredient in Malaysia and Hong Kong. Its sclerotium is the part of edibility and is traditionally used for the treatment of fever, cough, asthma and cancer. In view of its safety profile, very little information is found in scientific literature.
    Matched MeSH terms: Chromosome Aberrations/chemically induced
  18. Kandar MZ, Bhari IB
    Mutat Res, 1996 Apr 13;351(2):157-61.
    PMID: 8622709
    The usefulness of peripheral human lymphocytes as a bioindicator for ionizing radiation effect was tested in a survey of Malaysian workers in two industries producing technologically enhanced naturally occurring radioactive material (TENORM). Workers in amang processing plants who have been with the plant for an average of 12.9 years and who were exposed to radioactive dust showed significantly higher frequencies of chromosomal aberration compared to control and even ilmenite-processing workers. Such frequency was not significantly different between workers in ilmenite-processing plant and control. The differences in duration of employment, occupational hygiene, together with the difference in the percentage of 'old' and 'new' aberrations among the groups sampled were used to explain the high chromosomal aberration frequency among amang workers. The presence of significantly high chromosome damage (dicentrics and fragments) in workers who were chronically exposed to doses below 50 mSv per year or 20 mSv per year averaged over 5 years (ICRP, 1991) provided additional experimental data on the dose-effect relationship at these low-dose ranges. The results confirm the usefulness of using human lymphocytes as a bioindicator for chronic exposure to ionizing radiation and in cases where physical radiation detectors are not available.
    Matched MeSH terms: Chromosome Aberrations*
  19. Ali RH, Alateeqi M, Jama H, Alrumaidhi N, Alqallaf A, Mohammed EM, et al.
    J Clin Pathol, 2023 Feb;76(2):103-110.
    PMID: 34489310 DOI: 10.1136/jclinpath-2021-207876
    AIMS: Accurate assessment of 1p/19q codeletion status in diffuse gliomas is of paramount importance for diagnostic, prognostic and predictive purposes. While targeted next generation sequencing (NGS) has been widely implemented for glioma molecular profiling, its role in detecting structural chromosomal variants is less well established, requiring supplementary informatic tools for robust detection. Herein, we evaluated a commercially available amplicon-based targeted NGS panel (Oncomine Comprehensive Assay v3) for the detection of 1p/19q losses in glioma tissues using an Ion Torrent platform and the standard built-in NGS data analysis pipeline solely.

    METHODS: Using as little as 20 ng of DNA from formalin-fixed paraffin-embedded tissues, we analysed 25 previously characterised gliomas for multi-locus copy number losses (CNLs) on 1p and 19q, including 11 oligodendrogliomas (ODG) and 14 non-oligodendroglial (non-ODG) controls. Fluorescence in-situ hybridisation (FISH) was used as a reference standard.

    RESULTS: The software confidently detected combined contiguous 1p/19q CNLs in 11/11 ODGs (100% sensitivity), using a copy number cut-off of ≤1.5 and a minimum of 10 amplicons covering the regions. Only partial non-specific losses were identified in non-ODGs (100% specificity). Copy number averages of ODG and non-ODG groups were significantly different (p<0.001). NGS was concordant with FISH and was superior to it in distinguishing partial from contiguous losses indicative of whole-arm chromosomal deletion.

    CONCLUSIONS: This commercial NGS panel, along with the standard Ion Torrent algorithm, accurately detected 1p/19q losses in ODG samples, obviating the need for specialised custom-made informatic analyses. This can easily be incorporated into routine glioma workflow as an alternative to FISH.

    Matched MeSH terms: Chromosome Aberrations
  20. Islam M, Mohamed Z, Assenov Y
    Int J Genomics, 2017;2017:2913648.
    PMID: 28713819 DOI: 10.1155/2017/2913648
    Acute myeloid leukemia (AML) is a haematological malignancy characterized by the excessive proliferation of immature myeloid cells coupled with impaired differentiation. Many AML cases have been reported without any known cytogenetic abnormalities and carry no mutation in known AML-associated driver genes. In this study, 200 AML cases were selected from a publicly available cohort and differentially analyzed for genetic, epigenetic, and cytogenetic abnormalities. Three genes (FLT3, DNMT3A, and NPMc) are found to be predominantly mutated. We identified several aberrations to be associated with genome-wide methylation changes. These include Del (5q), T (15; 17), and NPMc mutations. Four aberrations-Del (5q), T (15; 17), T (9; 22), and T (9; 11)-are significantly associated with patient survival. Del (5q)-positive patients have an average survival of less than 1 year, whereas T (15; 17)-positive patients have a significantly better prognosis. Combining the methylation and mutation data reveals three distinct patient groups and four clusters of genes. We speculate that combined signatures have the better potential to be used for subclassification of AML, complementing cytogenetic signatures. A larger sample cohort and further investigation of the effects observed in this study are required to enable the clinical application of our patient classification aided by DNA methylation.
    Matched MeSH terms: Chromosome Aberrations
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