Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradation, display various multisystemic symptoms—including progressive neurological complications, ophthalmological disorders, hearing loss, gastrointestinal and hepatobiliary issues, cardiorespiratory problems, bone and joint abnormalities, dwarfism, and coarse facial features. Mucopolysaccharidosis-Plus Syndrome (MPSPS), an autosomal recessive disease caused by a mutation in the endo-lysosomal tethering protein VPS33A, shows additional renal and hematopoietic abnormalities (“Plus symptoms”) uncommon in conventional MPS. Here, we analyze data from biochemical, histological, and physical examinations—particularly of blood counts and kidney function—to further characterize the clinical phenotype of MPSPS. A series of blood tests indicate hematopoietic symptoms including progressive anemia and thrombocytopenia, which correlate with histological observations of hypoplastic bone marrow. High urinary excretion of protein (caused by impairments in renal filtration), hypoalbuminemia, and elevated levels of creatinine, cholesterol, and uric acid indicate renal dysfunction. Histological analyses of MPSPS kidneys similarly suggest the extensive destruction of glomerular structures by foamy podocytes. Height and weight did not significantly deviate from the average, but in some cases, growth began to decline at around six months or one year of age.

We performed immunohistochemical analysis of neuroendocrine breast cancer. The significance of this approach to differential diagnosis of this cancer form by detection of specific markers is demonstrated. The incidence of diagnosis of neuroendocrine breast cancer has increased 8-fold over 5 years. Neuroendocrine breast cancer is responsible for 3.4% of all breast cancer cases. The disease is significantly more incident in patients over 60. Neuroendocrine breast cancer is characterized by high expression of neuron-specific enolase (100%) and chromagranin A (57%). The data indicate that irrespective of the location, macroscopic picture, and immunohistochemical profile of cytokeratins and steroid hormones, breast cancer is characterized by clear-cut expression of neuroendocrine markers in different combinations. Immunohistochemical detection of these markers makes it possible to detect the hormone-secreting elements and evaluate their role in the tumor pool, which is essential for the differential diagnosis of neuroendocrine breast cancer, including studies of puncture biopsy specimens.

Histological study of breast cancer specimens obtained from 294 female residents in the Republic of Sakha (Yakutia) of different age and ethnic groups and immunohistochemical analysis of protein expression of mutant suppressor gene p53 in tumor cells were performed. A positive correlation was found between expression of mutant gene p53 protein and the degree of malignancy of breast tumors. The indicator should be considered when assessing malignancy potential and risk of breast cancer, because it is important for optimization and individualization of the treatment.

The results of histological studies of operation material from 294 women with breast cancer and immunohistochemical detection of estrogen and progesterone receptors and evaluation of proliferative activity (Ki-67) and expression of proteins p53 and bcl-2 were analyzed. Breast cancer was more incident (60%) in nonindigenous residents of the Sakha Republic (Yakutia) than in representatives of the indigenous population (40% cases). The disease was more incident in women aged 50-59 years (32.6%) and 60-69 years (21.8%) irrespective of the ethnic appurtenance. The findings indicated the most informative criteria of mammary tumor malignancy: low expression of estrogen and progesterone receptors, high expression of Ki-67 and p53, and low expression of bcl-2.