Chromosome abberations in cells of 4 ovarian cancer patients have been studied prior to and during the treatment with ThioTEPA. ThioTEPA was injected intraperitoneally once a week in a dose of 40 mg. The amount of abberant cells prior to the therapy averaged 7.8%. 14 days following the treatment the amount of cells with chromosome abberations reached its peak (88.6%). By the 21st day of ThioTEPA treatment, when a total dose of the drug was 120 mg, the number of cells with abberations rapidly decreased, and by the 28-35th day of treatment there was a fall up to the initial values. ThioTEPA induced in tumor cells chiefly abberations of chromatoid type that evidenced the injury of cells in a phase G2 of the cellular cycle. A decrease in the number of chromosome abberations in tumor cells during the treatment with chemotherapeutic drugs is a morphological indication of the appearance of drug resistance.
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Circ Genom Precis Med
December 2022
Division of Pediatric Cardiology, Department of Pediatrics and Child Health (N.A.S., T.F.S., T.A., J.L., G.C., R.D.D., L.S., A.J., L.J.Z.).
Background: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidity and mortality worldwide. Although the etiology of CHD is poorly understood, genetic factors including copy number variants (CNVs) contribute to the risk of CHD in individuals of European ancestry. The presence of rare CNVs in African CHD populations is unknown.
View Article and Find Full Text PDFRespir Med Case Rep
July 2017
Pathology Department, Acibadem University, Medical Faculty, İstanbul, Turkey.
Unlabelled: Non-small cell lung cancer (NSCLC) is a frequent tumor entity with high mortality. Although several newly discovered chromosomal translocations and mutations opened new horizons for targeted therapy, literature still lacks large series of NSCLC with chromosomal abberations and their correlations with histological and clinical features. We present a case of echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) translocation positive adenocarcinoma of the lung with an unusual metastatic pattern in a 29-year-old young woman.
View Article and Find Full Text PDFInt J Radiat Biol
September 2016
a Unitat d'Antropologia Biològica, Departament de Biologia Animal, Biologia Vegetal i Ecologia , Universitat Autònoma de Barcelona, Bellaterra , Spain ;
In a similar way to high-dose exposures to low-LET radiations, cells show difficulties reaching mitosis after high-LET radiation exposure. For this reason, techniques have been proposed that are able to analyze chromosome aberrations in interphase by prematurely condensing the chromosomes (PCC-techniques). Few dose-effect curves for high-LET radiation types have been reported, and none for α-particles.
View Article and Find Full Text PDFMol Syndromol
May 2016
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex., USA.
Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases.
View Article and Find Full Text PDFInt J Radiat Biol
May 2016
b Department of Radiation Oncology , University of California, Davis , Sacramento , California , USA.
Purpose The rejoining of fragmented nuclear DNA caused by ionizing radiation may lead to lethal chromosome rearrangements, such as rings or dicentrics. The clinically useful linear quadratic relationship between dose and cell survival has been interpreted as the generation of lethal lesions secondary to damage occurring in two separate chromosomes simultaneously (α component), or as potentially repairable separate events (β component). Here, the generation of such lesions is discussed, synthesizing existing knowledge with new insights gleaned from spatial proximity data made possible by high-throughput sequencing of chromosome conformation capture experiments.
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