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Changes in the expression of non-coding ribonucleic acids (ncRNAs) take part in the formation of various tumors. Multiple endocrine neoplasia syndrome type 1 (MEN1) is a rare autosomal dominant disease caused by mutations of the MEN1 gene encoding the menin protein. This syndrome is characterized by the occurrence of parathyroid tumors, gastroenteropancreatic neuroendocrine tumors, pituitary adenomas, as well as other endocrine and non-endocrine tumors. The pathogenesis of MEN-1 associated tumors due to MEN1 mutations remains unclear. In the absence of mutations of the MEN1 gene in patients with phenotypically similar features, this condition is regarded as a phenocopy of this syndrome. The cause of the combination of several MEN-1-related tumors in these patients remains unknown. The possible cause is that changes in the expression of ncRNAs affect the regulation of signaling pathways in which menin participates and may contribute to the development of MEN-1-related tumors. The identification of even a small number of agents interacting with menin makes a significant contribution to the improvement of knowledge about its pathophysiological influence and ways of developing tumors within the MEN-1 syndrome and its phenocopies. Congenital hyperinsulinism (CHI) is a severe disease with a high risk of development of neurological complications due to persistent hypoglycemia. https://www.selleckchem.com/Bcl-2.html The use of an analog of somatostatin (octreotide) in patients with the resistance to the first-line drug allows to avoid surgical intervention. However, the octreotide is currently used in the form of frequent fractional injections due to the short duration of it’s effect. We present in this article our own experience of using octreotide in continuous subcutaneous infusion in pediatric patients in order to improve the quality of life. AIM To evaluate the efficiency and safety of the regime of continuous subcutaneous infusion of octreotide with the use of micro-dispensers (pumps) in children with diazoxide-resistant course of CHI. An observational single-centre dynamic research was carried out on the basis of the Federal State Budgetary Institution «Endocrinology Research Centre» of the Ministry of Health of the Russian Federation. ng pumps has a number of advantages over the standard method of intermittent subcutaneous injection. This method of administration allows to achieve better glycemic control and reduce the risks from infusion therapy with highly concentrated glucose solutions, which undoubtedly improves the quality of life of patients.It is well known that the nomenclature and classification were changed in 2005 at the international consensus conference on intersex disorders, held in Chicago, where, among others, the following recommendations were proposed (1) all children should be assigned a gender identity, and this should be done as quickly as possible, taking into account the time required for the examination. (2) all infants with congenital adrenal hyperplasia and 46,XX karyotype, including those with pronounced masculinization, must be raised as women. (3) Surgical treatment should be performed early and in cases of feminizing genitoplasty, clitoral reduction should be performed simultaneously with reconstruction of the urogenital sinus (separation of the vagina and urethra). An analysis of contemporary literature shows that all these theories, proposed 15 years ago at the Chicago meeting, failed to stand the test of time. New nomenclature and classification are constantly being revised. Currently, many groups of patients want to abolish the term «sexual maturity disorders.» Recommendations regarding gender reassignment and appropriate early surgical treatment have been completely ignored in some countries. All this was largely facilitated by the confrontational activities of a number of support groups.Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function. We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 310 Russian patients with 46,XY disorders of sex development (DSD). Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described. We have not found any phenotype-genotype correlations and any clinical and laboratory markers that would allow to suspect this type of before conducting molecular genetic analysis.Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a virus that causes coronavirus disease in 2019 (COVID-19). Currently, there is no evidence that pregnant women are more vulnerable to COVID-19. All concerns and anticipated risks are related to the potential impact of COVID-19 on perinatal outcomes, so pregnant women require special attention in relation to the preventive measures, diagnosis and treatment of a new coronavirus disease. Women with gestational diabetes mellitus (GDM) belong to the group of high perinatal risk and need timely medical assistance. During the COVID-19 pandemic, there is a necessity in temporary changes of approaches to diagnosing GSD and pregnancy care before and after delivery in women with GSD. The purpose of our review is to present and analyze all available GSD screening recommendations, updated and published in various countries in response to the coronavirus pandemic, at the time of publication of this article. It seems that there is no single universal strategy to achieve a reasonable balance. In this regard, it is necessary to develop new national algorithms for GSD screening, taking into account both demographic factors and the features and capabilities of our health system. We believe that the knowledge and experience achieved as a result of these changes will lead to the revision and improvement of national and international recommendations.
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