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Pediatric Oncology
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Stephen Lowis, Rachel Cox, John Moppett, Helen Rees
There is a preponderance of females with GCT (4 girls:3 boys), and a bimodal incidence, with peaks in infancy and adolescence. In children under 5 years, the sex incidence is equal, with more ovarian than testicular tumors in older children. Non-gonadal tumors under 5 are more common in girls (M:F 1:2), but the reverse in older children and adolescents (M:F 2.6:1). Primary CNS GCTs arise predominantly in males (M:F 14:1), sacrococcygeal tumors in females. Sex also correlates with histology: malignant GCT is more common in males, and yolk sac tumors more common in young girls (M:F 1:2.12). An increased incidence of germ cell tumors is found for children with dysgenic gonads, Swyer syndrome, Klinefelter’s syndrome, and defects in the urogenital tract such as cryptorchidism and sacral agenesis.
Ovarian cancer
Published in Anju Sahdev, Sarah J. Vinnicombe, Husband & Reznek's Imaging in Oncology, 2020
Stephanie Nougaret, Helen Addley, Evis Sala, Anju Sahdev
Dysgerminomas are composed of undifferentiated germ cells and are comparable histologically to testicular seminoma. They may be associated with congenital malformations of the genital tract, Turner syndrome, and with gonadoblastoma in patients with dysgenic gonads. Dysgerminomas are uncommon, accounting for only 2% of primary malignant ovarian cancers, with 80% of them occurring during the second and third decades of life, but they are the commonest MGCT. Dysgerminoma is frequently accompanied by nonspecific elevation of serum lactate dehydrogenase (LDH). On T2WI, dysgerminoma is typically an intermediate-to-high SI solid mass with several lobules that are separated by low SI fibrovascular septa which enhance avidly following IV contrast medium administration (Figure 19.18) (60).
Genetic counselling
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
Thus we have to look to America for the origins of modern genetic counselling, specifically to the work of Sheldon Reed, whose book Counseling in Medical Genetics (1955) can fairly be considered as marking its starting point. Fortunately, Reed himself, in his book and in other publications, has written about his early work, and a good account of his life and career has been given recently by Stern (2012). Reed was a Drosophila geneticist by background, but in 1941 he accepted the post of director of the Dight Clinic, in Minneapolis, Minnesota, which had been endowed by Edward Dight for seeing families to discuss genetic risk as part of a eugenics programme. Reed made it clear from the outset that he had no intention for his role to be related to eugenics. When looking back over the more than 4000 families that he had seen during his career, he admitted that he had no idea as to whether the effects had been eugenic or dysgenic; it is fortunate that his sponsors left him alone to practice as he considered best.
Effects of ionizing radiation at Drosophila melanogaster with differently active hobo transposons
Published in International Journal of Radiation Biology, 2019
However, these effects are less expressed compared to effects in individuals with a high activity of transposons. The cells of individuals OR[HiR] and OR[CS] undergo mass transpositions of full-size hobo-elements which produce hybrid dysgenesis events at Drosophila. In such dysgenic conditions, animals are exhibited a highly sterile, low viable rate, high DNA damage, chromosome aberration, and mutation frequencies (Kidwell et al. 1977). The obtained results show that a radiation increases the detrimental effects of TEs transpositions which linearly increase on irradiation dose.
The effects of transpositions of functional I retrotransposons depend on the conditions and dose of parental exposure
Published in International Journal of Radiation Biology, 2023
For analysis, 100–200 dysgenic non-dysgenic F1 females were selected. Ten individuals were placed in each tube (18 mm × 100 mm, 4 mL of nutrient medium). The survival rate of females was assessed daily. The individuals were transferred to a fresh medium twice a week. Lifespan was recorded in three replicates.