scholarly journals Molecular Cytogenetics in the Diagnostics of Balanced Chromosome Mutations in the Pig (Sus scrofa) – A Review

2016 ◽  
Vol 16 (3) ◽  
pp. 679-699 ◽  
Author(s):  
Barbara Danielak-Czech ◽  
Anna Kozubska-Sobocińska ◽  
Barbara Rejduch
Keyword(s):  
Sus Scrofa ◽  
Molecular Cytogenetics ◽  
Diagnostic Methods ◽  
Semen Parameters ◽  
Differential Staining ◽  
Developmental Abnormalities ◽  
Body Conformation ◽  
Chromosome Mutations ◽  
Resolution Banding ◽  
Chromosomal Mutations

AbstractContinually improved cytogenetic techniques (differential staining and high resolution banding techniques), complemented with the molecular genetics methods (FISH and PRINS), enable chromosomal mutations to be accurately identified in the karyotype of the pig (Sus scrofa). The major breeding problem are balanced mutations because of their hidden nature, as they affect the animals with normal body conformation (and normal semen parameters in boars), which transfer these aberrations to the next generations and disseminate in the population. This refers to the structural rearrangements (translocations and inversions), causing developmental abnormalities and considerably reducing fertility and productivity parameters in breeding herds, which results in substantial financial losses. Routine karyotype screening using modern cytomolecular diagnostic methods is necessary due to the potential emergence of new mutations and the rapid spread of these genetic defects in the population, especially under artificial insemination conditions.

scholarly journals Review of Clinical Trials on Effects of Oral Antioxidants on Basic Semen and Other Parameters in Idiopathic Oligoasthenoteratozoospermia

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Senka Imamovic Kumalic ◽  
Bojana Pinter
Keyword(s):  
Clinical Trials ◽  
Male Infertility ◽  
Diagnostic Methods ◽  
Sperm Parameters ◽  
Semen Parameters ◽  
Oxygen Species ◽  
Male Factor ◽  
Infertile Men ◽  
Antioxidant Supplements ◽  
Year 2000

Infertility affects 50 to 80 million people worldwide. Male factor is a cause of infertility in almost half of cases, mainly due to oligoasthenoteratozoospermia (OAT). With common diagnostic methods no cause can be found in approximately 30% of cases of male infertility due to OAT and these are considered idiopathic. Reactive oxygen species (ROS) play an important role in male infertility and are proved to be higher in infertile men; antioxidants could oppose their effect. The aim of this paper was to review the literature on clinical trials in the period from year 2000 to year 2013 studying the effects of various types of antioxidant supplements on basic and other sperm parameters and pregnancy rates in subfertile males with idiopathic OAT. The majority of studies were randomized and placebo controlled and confirmed beneficial effect of antioxidants on at least one of the semen parameters; the biggest effect was determined on sperm motility. In many of these trials combinations of more antioxidants were assessed. The optimal dosages of one or more antioxidants were not defined. We concluded that antioxidants play an important role in protecting semen from ROS and can improve basic sperm parameters in case of idiopathic OAT.

scholarly journals Chromosomes of parasitic wasps of the superfamily Chalcidoidea (Hymenoptera): An overview

2020 ◽  
Vol 14 (3) ◽  
pp. 399-416
Author(s):  
Vladimir E. Gokhman
Keyword(s):  
Current Knowledge ◽  
Local Maximum ◽  
B Chromosome ◽  
Differential Staining ◽  
Haploid Chromosome Number ◽  
Phylogenetic Reconstructions ◽  
Taxonomic Implications ◽  
Cryptic Taxa ◽  
Chromosomal Mutations

An overview of the current knowledge of chromosome sets of the parasitoid superfamily Chalcidoidea is given. Karyotypes of approximately 240 members of this group, i.e. just above one percent of described species, are studied up to now. Techniques for obtaining and analyzing preparations of chalcid chromosomes are outlined, including the so-called “traditional” and “modern” methods of differential staining as well as fluorescence in situ hybridization (FISH). Among the Chalcidoidea, the haploid chromosome number can vary from n = 3 to n = 11, with a clear mode at n = 6 and a second local maximum at n = 10. In this group, most chromosomes are either metacentric or submetacentric, but acrocentrics and/or subtelocentrics also can predominate, especially within karyotypes of certain Chalcidoidea with higher chromosome numbers. The following main types of chromosomal mutations are characteristic of chalcid karyotypes: inversions, fusions, translocations, polyploidy, aneuploidy and B chromosome variation. Although karyotype evolution of this superfamily was mainly studied using phylogenetic reconstructions based on morphological and/or molecular characters, chromosomal synapomorphies of certain groups were also revealed. Taxonomic implications of karyotypic features of the Chalcidoidea are apparently the most important at the species level, especially among cryptic taxa.

scholarly journals Can We Use Targeted Next-Generation Sequencing an Alternative Method to the Conventional Tests in Haematological Malignancies?

2020 ◽  
Author(s):  
Emine Ikbal Atli ◽  
Hakan Gurkan ◽  
Engin Atli ◽  
Hakki Onur Kirkizlar ◽  
Sinem Yalcintepe ◽  
...  
Keyword(s):  
False Negative ◽  
Molecular Cytogenetics ◽  
Hematologic Malignancies ◽  
Turnaround Time ◽  
Diagnostic Methods ◽  
Myeloid Malignancies ◽  
Targeted Next Generation Sequencing ◽  
Negative Results ◽  
Golden Standard ◽  
Molecular Cytogenetic Techniques

Abstract Introduction: Advanced diagnostic methods give a huge advantage for identification of the abnormalities in myeloid malignancies. Researchers tried to show the potential importance of genetic tests both before the onset of the disease and during the remission. Large testing panels prevents false negative results in myeloid malignancies. But the important question is how can be merged with conventional cytogenetic and molecular cytogenetic techniques together with NGS technologies. Methods: In this paper, we draw an algorithm for evaluation of the malignancies. In order to evaluation of genetic abnormities we performed cytogenetics, molecular cytogenetics and NGS testing panels in hematologic malignancies. In this study, we analyzed 132 patients which are referred to Medical Genetics Laboratory within different type of hematologic malignancies. We highlighted possible algorithm for cytogenetically normal cases.Results: We analyzed cytogenetically normal patients by using NGS 141 gene panel and we detected two or more pathogenic variations in 20 out of 132 patients.Conclusions: Despite of long turnaround time conventional techniques is still golden standard for myeloid malignancies but sometimes cryptic gene fusions or complex abnormalities cannot easily be identified by conventional techniques that conditions advanced technologies are recommended.

scholarly journals THE IMPORTANCE OF TARGETED NEXT-GENERATION SEQUENCING USAGE IN CYTOGENETICALLY NORMAL MYELOID MALIGNANCIES

2020 ◽  
Vol 13 (1) ◽  
pp. e2021013
Author(s):  
Emine Atli ◽  
Hakan Gurkan ◽  
Engin Atli ◽  
Hakki Onur Kirkizlar ◽  
Sinem Yalcintepe ◽  
...  
Keyword(s):  
False Negative ◽  
Molecular Cytogenetics ◽  
Diagnostic Algorithm ◽  
Hematologic Malignancies ◽  
Turnaround Time ◽  
Diagnostic Methods ◽  
Myeloid Malignancies ◽  
Targeted Next Generation Sequencing ◽  
Negative Results ◽  
Novel Variation

Advanced diagnostic methods give an advantage for the identification of the abnormalities in myeloid malignancies. Various researchers have shown the potential importance of genetic tests both before the onset of the disease and during the remission. Large testing panels prevents false negative results in myeloid malignancies. But the important question is how the results of conventional cytogenetic and molecular cytogenetic techniques can be merged together with NGS technologies. In this paper, we drew an algorithm for evaluation of the myeloid malignancies. In order to evaluate genetic abnormalities, we performed cytogenetics, molecular cytogenetics and NGS testing in hematologic malignancies. In this study, we analyzed 100 patients who admitted to Medical Genetics Laboratory within different type of myeloid malignancies. We highlighted the possible diagnostic algorithm for cytogenetically normal cases. We applied NGS 141 gene panel for cytogenetically normal patients and we detected two or more pathogenic variations in 61 out of 100 patients (61%). The pathogenic variation detection rate of NGS varies in disease groups: AML were 85% and MDS were 23%. Here, we identified 24 novel variation out of total pathogenic variations in myeloid malignancies. A total 18 novel variation were identified in AML and 6 novel variation were identified in MDS. Despite of long turnaround time, conventional techniques are still golden standard for myeloid malignancies but sometimes cryptic gene fusions or complex abnormalities cannot be identified easily by conventional techniques. In these conditions, advanced technologies like NGS are highly recommended.

scholarly journals The bystander effect formation in the meristem of Allium cepa L. plants with different genotype

2021 ◽  
Vol 28 ◽  
pp. 13-18
Author(s):  
O. Yu. German ◽  
a. m. Bratchenko ◽  
Ye. O. Lytovchenko
Keyword(s):  
Mitotic Activity ◽  
Allium Cepa ◽  
Bystander Effect ◽  
Chromosomal Abnormalities ◽  
Γ Radiation ◽  
Allium Cepa L ◽  
Chromosome Mutations ◽  
Chromosomal Mutations ◽  
Different Doses ◽  
Cytogenetic Parameters

Aim. Obtaining and analysis of cytogenetic parameters in meristem cells of Allium cepa L. seedling sprouting from unirradiated seeds, while germinating them with seeds, that were exposed to γ-radiation in different doses. Methods. Cytogenetic analysis included analysis of mitotic activity, anaphase method of chromosome mutations, nucleolar analysis. The F-test was used to compare the control and experimental samples. Results. The formation of the bystander effect is shown in the case of joint germination of irradiated and non-irradiated seeds. The severity of bystander effect increases with increasing irradiation dose. Conclusions. Irradiation of seeds with a dose of gamma radiation of 40 Gy causes the formation of radiation hormesis by the criterion of mitotic activity in the root meristem cells of seedlings, and the irradiation with a dose of 10 Gy does not affect the level of cell proliferation. The bystander effect formation occurs during the joint germination of intact and irradiated seeds as an increase in the level of mitotic activity, and an increase in the number of chromosomal mutations. Keywords: bystander effect, γ-radiation, meristem, mitotic activity, chromosomal abnormalities, micronuclei.

A Study of the Ultrastructure of Visual Cell Outer Segment Membranes, Using a Water-Miscible Embedding Medium and Differential Staining

1972 ◽  
Vol 30 ◽  
pp. 50-51
Author(s):  
Anthony J. Godfrey
Keyword(s):  
Outer Segment ◽  
Protein Denaturation ◽  
Uranyl Acetate ◽  
Differential Staining ◽  
Visual Cell ◽  
Lead Citrate ◽  
Chick Retina ◽  
Dark Staining ◽  
Embedding Medium ◽  
The Individual

Aldehyde-fixed chick retina was embedded in a water-containing resin of glutaraldehyde and urea, without dehydration. The loss of lipids and other soluble tissue components, which is severe in routine methods involving dehydration, was thereby minimized. Osmium tetroxide post-fixation was not used, lessening the amount of protein denaturation which occurred. Ultrathin sections were stained with 1, uranyl acetate and lead citrate, 2, silicotungstic acid, or 3, osmium vapor, prior to electron microscope examination of visual cell outer segment ultrastructure, at magnifications up to 800,000.Sections stained with uranyl acetate and lead citrate (Fig. 1) showed that the individual disc membranes consisted of a central lipid core about 78Å thick in which dark-staining 40Å masses appeared to be embedded from either side.

The Physician’s Task and the Problem of Documentation

1964 ◽  
Vol 03 (01) ◽  
pp. 11-19 ◽  
Author(s):  
A. Proppe
Keyword(s):  
Statistical Evaluation ◽  
Age Groups ◽  
Diagnostic Methods ◽  
Early Age ◽  
Case Histories ◽  
Lupus Vulgaris ◽  
Pathological Conditions ◽  
Clinical Methods ◽  
Corpus Hippocraticum ◽  
High Degree

SummaryCase histories suitable for statistical evaluation can be found even as far back as in the Corpus Hippocraticum. Such simple data as the patient’s age, body weight, size, the date of menarche, etc. are practically always included in the case records, and it is demonstrated that, when such data are recorded in a system of documentation suitable for mechanical sorting, it may enable us to draw conclusions of very great importance. Mechanical registration methods have revealed that, in the determination and recording of data as hitherto carried out. there has been a surprisingly large number of errors and a high degree of unreliability. This view has a considerable influence on modern clinical methods; it renders a more democratic relation between physician and patient necessary and makes clear the need for measures to enhance the reliability of diagnosis and treatment of pathological conditions. The author illustrates this view with reference to the mechanical falsification of the thesis of the proneness of early age groups to lupus vulgaris, furthermore with reference to the mechanical rationalization of modern routine diagnostic methods, to the constant surveillance of adverse effects on public health and to the protection against allergic reactions with the aid of recording systems of personal allergy and intolerance data with mechanical sorting and computer techniques.

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