Familial benign polycythemia (FBP) (OMIM 263400) is a rare autosomal recessive condition characterized by erythrocytosis, normal leukocyte and platelet counts, normal uric acid level, and usually increased erythropoietin production. There is a high incidence of this disorder in Chuvashia (Russian Federation), probably due to a founder effect. In an attempt to locate the gene responsible for this disorder, we have carried out linkage studies in 12 Chuvash families, with 35 affected and 32 unaffected members. Linkage to the erythropoietin and erythropoietin receptor loci was excluded, and the FBP gene was assigned to the region of chromosome 11q23 between D11S4142 and D11S1356, with a maximal lod score of 6.61.
Чувашский государственный университет, Россия ДЕФИЦИТ ЦИНКА ИНДУЦИРУЕТ Fas ОПОСРЕДОВАННЫЙ АПОПТОЗ Резюме. Изучалась экспрессия Fas рецептора и антигенов CD3, CD4, CD8, CD16, CD20 на мононукле арных клетках периферической крови в группе людей с асимптомно протекающим дефицитом Zn, обуслов ленным геохимическими условиями (уровень Zn в почве <0,1 мг/кг, в пищевом рационе 9,1 мг/сут при норме 15 мг/сут). Параллельно оценивали пролиферативную активность лимфоцитов. Обнаружена ассо циация дефицита Zn с недостаточностью Т клеточного звена иммунной системы, обусловленная, по всей видимости, ускорением апоптоза Т лимфоцитов.
The paper presents data on the study of the content of cytokines (IL-1β, RAIL-1β, IL-2, IL-4, IL-10, IL-17A, TNF-, IFN-γ) in the morning urine using enzyme immunoassay in healthy individuals (n = 20) and in patients with acute glomerulonephritis (n = 93). The determination of cytokine levels in patients was carried out in the debut of the disease and 12 months after the onset of the disease. The obtained indicators of cytokine content in the urine are presented as absolute values in pg/ml and creatinine-normalized values calculated by the formula: cytokine level (pg/ml) / urine creatinine (µmol/ml). The study was made of changes in the content of cytokines in the urine of patients with glomerulonephritis with respect to a group of healthy individuals, as well as the dynamics of the content of cytokines in the urine during the 12-month observation period. The results of the study showed that the absolute values of cytokines in urine can distort the true picture of the cytokine profile of urine in renal pathology. Normalized values of the predominant number of pro- and anti-inflammatory cytokines (IL-1β, IL-2, IL-8, IL-10, IL-17A and TNF-α) in patients with glomerulonephritis were significantly higher than the corresponding indicators of healthy individuals. The normalized values of cytokines were shown to be as more sensitive indicators than absolute values in the course of analyzing differences in the cytokine profile in patients with glomerulonephritis, depending on chronic and acute course of the disease. These indicators influenced the outcome of glomerulonephritis, assessed, as a rule, 12 months after the onset of the disease. Thus, the low levels of IL-1β, IL-8 and IL-17А detected in the debut of the disease in combination with the high level of RAIL-1β determined the chronization of glomerulonephritis. So, the creatinine-normalized cytokine levels in the urine expand the possibilities of using the evaluation of the cytokine profile of urine to establish changes in the cytokine content in the urine in renal pathology and predict the chronization of glomerulonephritis.
Despite the fact that the general clinical manifestations of COVID-19 are well known, there remain problems associated with the impact of COVID-19 on human health, in addition to its effects on the respiratory system. Patients with COVID-19 and concomitant cardiovascular diseases are more likely to be hospitalized and to pass treatment in the intensive care units and to have worse prognoses. The article discusses the problems arising from the effect of type 2 coronavirus acute respiratory syndrome (SARS-CoV-2) on the cardiovascular system, starting with the mechanisms associated with angiotensin converting enzyme 2 (ACE2) receptors, as well as discusses cases of major pathological changes in the heart and blood vessels that are detected in these patients. In addition to the known risk factors for severe COVID-19: cardiovascular diseases, diabetes mellitus, chronic lung diseases and old age, even young patients without a history of risk factors may develop myocardial damage. We present a description of a clinical case of acute myocardial infarction against the background of a new coronavirus infection COVID-19 in a patient aged 28 years with a diagnosis of coronary heart disease.
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