The paper describes a clinical and anatomical case of partial trisomy of the long arm of 17 chromosome in a baby aged 1 month and 4 days with the karyotype 46,XY, dup(17)(q21q24) from a dichorionic diamniotic twin born after in vitro fertilization. Intrahepatic bile duct hyperplasia was first detected in the patient with this chromosomal abnormality. Histological and immunohistochemical examinations of the liver were conducted using antibodies to Ki-67, CK-pan, CK8, CK 18, Vim, SMA, CD31, CD34, HER-2/neu.
View Article and Find Full Text PDFThe paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl with congenital ichthyosis (Harlequin ichthyosis (HI)). There is impaired proliferative activity, abnormalities in epidermal differentiation with abnormal CK LMW synthesis, and those in the differentiation of the skin appendages. There are also pronounced sclerotic changes with a predominance of reticulin fibers, derma, and its vessels.
View Article and Find Full Text PDFThe paper describes a case of hereditary thesaurismosis - galactosemia in neonate infant with mutation of GALT-gene (Q188R/N) and vascular malformation of the internal organs.
View Article and Find Full Text PDFThe paper describes a clinicoanatomic case of two deceased neonates with fibromyxomatous hyperplasia of mitral and tricuspid valve leaflets with vascular malformations of the lung, lower extremity, spermatic cord, and thrombotic and hemorrhagic complications. The cases are considered in the context of congenital connective tissue dysplasia.
View Article and Find Full Text PDFThe paper describes a clinicoanatomic case of congenital neuroblastoma of various differentiation degree in a boy aged 1 year and 9 months after 4 courses of up-to-date multidrug therapy.
View Article and Find Full Text PDFThe paper presents a clinicoanatomic case of the polycystic ovary in a 3-month-old girl who died from intestinal infection. It shows the pathomorphological changes of ovaries, the structure of cysts, primary ovocytes, with defects of their structural and spatial pattern. It is suggested that there is a dynamic imbalance of the biological program of folliculogenesis and follicular atresia, which leads to the cystic transformation of ovaries and the persistence of biologically defective primary ovocytes.
View Article and Find Full Text PDFA case is reported of a retroperitoneal sympathic nodes ganglioneuroma in a newborn with classic early inborn syphilis involving practically all systems of the viscera, skin, placenta. Some peculiar morphological features of the tumour are described. Possible teratogenic and oncogenic effects of treponema pallidus on embryonal fetal structures during intrauterine development are suggested.
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