CYTOGENETIC ANALYSIS OF PATIENTS WITH AMBIGUOUS GENITALIA

Objective: To determine the magnitude and classification of cases of ambiguous genitalia presenting to our setup. Study Design: Cross-sectional study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Aug 2018 to Feb 2019. Methodology: All the patients with ambiguous genitalia referred for cytogenetic analysis, were included in the study. The patients were subjected to a detailed history and physical examination. The record of radiological investigations was were obtained. Cytogenetic analysis was performed using the conventional G-banding technique. Hormonal testing included 17- hydroxyprogesterone (17-OHP) levels was also performed. Results: Fifty-one cases of ambiguous genitalia were studied. The median age was 15 months. Thirty-three patients (64.7%) had a 46XY karyotype, 17 (33.3%) had a 46XX karyotype while 1 (1.9%) had 45X/46, XY mosaic karyotype. Thirty patients (58.8%) were products of consanguineous marriage. Congenital adrenal hyperplasia was diagnosed in 12 cases (70.5%) of 46 XX karyotype and in 3 cases (9%) of 46XY karyotype. Conclusion: Ambiguous genitalia, currently categorized as disorders of sex development, are not uncommon in our populartion. Increased awareness and early diagnosis are crucial to prevent life threatening complications of congenital adrenal hyperplasia, to determine sex of rearing, and to counsel the parents or patients.

The cytogenetic parameters of Pinus sylvestris L. under conditions of the Far North of Russia (Karelia)

The cytogenetic analysis of the Pinus sylvestris L. seed progeny in the forests of the northern taiga in the Far North of Russia conditions was carried out. Two Pinus sylvestris populations growing in Ambarnskoy and Pyaozerskoy forest divisions of Loukhsky district of Karelia Republic were studied. The number of chromosomes, the frequency and types of mitosis disturbances at the metaphase, anaphase and telophase (as a percentage of the total number of dividing cells at the same stages), and the frequency of micronuclei occurrence, as well as the laboratory seed germination, were studied. As a result of the study, it was found that 50–56% of the studied sprouts were mixoploid. Analysis of mitosis showed that the root meristem of the studied samples contained cells with various pathologies; simultaneously, the frequency of mitosis pathologies in the Ambarnskoy population was significantly higher than in the Pyaozerskoy one. It amounted to 6.8 ± 0.4 and 4.9 ± 0.4%, respectively. Nine types of abnormalities were identified; chromosome overrun and bridges prevailed. Micronuclei were registered in 35–38% of the studied Pinus sylvestris sprouts. At the same time, the proportion of cells with micronuclei in the Ambarnskoy population was 2-fold higher than in the Pyaozerskoy one and averaged 0.12 ± 0.03% and 0.07 ± 0.02%, respectively.

Cytogenetic effect of caffeine in the micronucleus test

Relevance. The consumption of caffeine-containing food in the modern world must necessarily be safe for humans, including should not affect the hereditary material of the body. Objective: to determine the possible effect of caffeine at the cytogenetic level by the micronucleus method on erythrocytes. Materials and Methods. The objects for the study were non-linear mice, which were divided into 6 groups - one control group and 5 experimental groups. The first experimental group and the second in the experiment received caffeine in doses of 40 mg/kg and 100 mg/kg.The control group received saline. Caffeine was administered orally. The mutagen (dioxidine) was injected intraperitoneally. On the 5th day of the experimental study, we performed blood sampling for cytogenetic analysis. Results and Discussion. Our study of the caffeine preparation made it possible to determine the following patterns. Firstly, when administered within 5 days, caffeine at a dose of 40 and 100 mg/kg did not cause an increase in the number of micronuclei in erythrocytes in mice. Secondly, the combined use of caffeine (both at a dose of 40mg/kgand at a dose of 100 mg / kg) and dioxidine significantly increased the level of micronuclei in comparison with the control group. Thirdly, caffeine at a dose of 40mg/kgdid not increase the mutagenic activity of dioxidine, but a dose of caffeine of 100mg/kgwhen combined with a mutagen led to a significant increase in the level of cytogenetic damage. Conclusion. According to our data, caffeine in the experimental study was not a mutagen, but at a dose of 100 mg/kg it represented a comutagenic effect.

Histopathological and Cytogenetic Analysis of Epidural Adipose Tissue in Symptomatic Lumbar Epidural Lipomatosis

Lumbar epidural lipomatosis (LEL) is characterized by the abnormal accumulation of unencapsulated adipose tissue in the spinal epidural space. Symptomatic LEL occurs in middle aged and elderly patients, and it is most often seen in males. The purpose of this study was to elucidate the histopathological and cytogenetic characteristics of the epidural lipomatosis in patients with symptomatic LEL. Six patients undergoing decompressive spinal surgery (mean age, 69.4 years) were enrolled between 2013 and 2017. Three cases were steroid-induced and 3 cases were diagnosed as idiopathic LEL. We compared the differences in histological morphology between the subcutaneous fat tissue and epidural fat tissue in each patient. We also analyzed the karyotype of resected epidural lipomatous tissue using the G-band method. The epidural adipocytes were histologically more irregular and smaller compared with the subcutaneous adipocytes in all cases. The mean size of subcutaneous adipocytes and epidural adipocytes was 5,485.6 ± 2,584.1 µm2 and 2,705.4 ± 1,069.1 µm2, respectively. In cytogenetic analysis of the epidural adipocytes, loss of the Y chromosome (LOY) was found in all 6 cases. The mechanisms related to the development of LEL are not well understood. In this study, the size of the lipid component of epidural adipocytes was significantly smaller than that of subcutaneous adipocytes in LEL. Cytogenetically, LOY was frequently recognized. Although this may be an effect rather than a cause, LOY may be related to morphologic changes in and proliferation of adipocytes in LEL. LOY might partially contribute to the pathological mechanism or expression of LEL.

A Karyological Study of Tenualosa Ilisha (Hamilton, 1822) From the Confluence of Padma and Meghna River of Bangladesh

Tenualosa ilisha (Hamilton, 1822), commonly known as Hilsha shad is a valuable and highly acceptable species in terms of their high flavored properties. Hilsha shad has striking morpho-genetical adaptation to heterogeneous habitats across their migratory routes. Cytogenetic analysis demonstrates the changes in chromosomes. But none was focused on the cytogenetic analysis of T. ilisha in Bangladesh. T. ilisha was found to possess 2n = 42 number of chromosomes along with a karyotype formula: 1M + 31m + 8sm + 2st using giemsa staining technique. The results demonstrated ‘diffuse type of interphase nuclei, co-existence of continuous type and interstitial type of prophase chromosomes respectively. No heteromorphic sex chromosomes were determined cytologically. The presence of diverse types of chromosomes based on centromeric position, gradual decrease in total haploid chromosome complement, mean centromeric asymmetry, coefficient of variation of chromosome length and Stebbins’s classification highlighted its asymmetry in karyotype with advance nature. Therefore, the elemental karyological data will offer information for the proper identification, cytotaxonomical classification, expanding productivity and preservation of genetic resources ofT. ilisha. Bangladesh J. Zool. 49 (2): 243-255, 2021