RESUMEN
Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess. At present time, primary generalized glucocorticoid resistance has been exclusively associated with defects in the NR3C1 gene. Here, we present a case report of an adolescent patient with clinical presentation of glucocorticoid resistance confirmed by detailed endocrinologic evaluation but no confirmed mutations in the NR3C1 gene.
Asunto(s)
Errores Innatos del Metabolismo , Receptores de Glucocorticoides , Receptores de Glucocorticoides/deficiencia , Adolescente , Humanos , Receptores de Glucocorticoides/genética , Glucocorticoides/uso terapéutico , Glándulas Suprarrenales , Errores Innatos del Metabolismo/genética , Enfermedades RarasRESUMEN
Autoimmune polyglandular syndromes (APS) are a heterogeneous group of clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of central or peripheral immune tolerance. These syndromes are also often accompanied by autoimmune damage to non-endocrine organs. Taking into account the wide range of components and variants of the disease, APS is usually divided into a rare juvenile type (APS 1) and a more common adult type (APS 2-4). APS type 1 is caused by a monogenic mutation, while APS types 2-4 have a polygenic mode of inheritance. One subtype of adult APS (APS 3D) is characterized by a combination of autoimmune thyroid disease and autoimmune rheumatic disease. This review considers the available literature data on combinations that meet the above criteria. Many studies have noted a significantly higher prevalence of rheumatic diseases in patients with autoimmune thyroid disease compared with the control group. Also, as in a number of rheumatic diseases, a more frequent occurrence of autoimmune thyroiditis, primary hypothyroidism and Graves' disease was noted.
Asunto(s)
Enfermedades Autoinmunes , Enfermedad de Graves , Poliendocrinopatías Autoinmunes , Enfermedades Reumáticas , Adulto , Humanos , Poliendocrinopatías Autoinmunes/diagnóstico , Poliendocrinopatías Autoinmunes/epidemiología , Poliendocrinopatías Autoinmunes/genética , Enfermedades Autoinmunes/complicaciones , Enfermedad de Graves/complicaciones , Síndrome , Enfermedades Reumáticas/epidemiología , Enfermedades Reumáticas/genética , Enfermedades Reumáticas/complicacionesRESUMEN
The territory of the Tyumen region is an endemic region with insufficient iodine content in the environment, in which, since the early 1990s, active preventive measures have been taken to increase the use of iodized salt (IS) in households, catering and the food industry. The purpose of the research was to assess the consumption of iodine with IS used in the organized nutrition of children in the Tyumen region. Material and methods. The assessment of iodine intake was carried out in preschool institutions and schools randomly selected the city of Tyumen and rural areas (village of Isetskoye). Modeling of iodine consumption in organized groups was carried out for children aged 1-3, 3-7, 7-11 and 12 years and older in urban and rural areas, respectively, using a standard menu and a technological map of dishes. Iodine intake was estimated based on the content of 40 µg of iodine in 1 g of salt and its 30% loss during cooking. Model 1 assumed the mandatory use of IS in the preparation of all salt-containing meals for preschoolers and schoolchildren. Model 2, in addition to the mandatory use of IS in school and preschool meals accounted the consumption of iodine with bakery products (BP) produced with IS. Results. The modeling showed that the average intake of iodine with meals (model 1) in preschool institutions in Tyumen was 89±16 µg/day for children aged 1-3 years. When BP with IS were included in the menu (model 2), iodine intake increased to 101±14 µg/day. In children aged 4-7 years iodine intake was 115±18 and 126±18 µg/day, respectively. In rural areas, iodine intake was lower: in children aged 1-3 years, under model 1, iodine intake was 66±3 µg/day, under model 2 - 76±4 µg/day. In children aged 4-7 years, these figures were 83±3 and 92±4 µg/day, respectively. Iodine consumption in a school in Tyumen under model 1 in children 7-11 years old was 24±5 µg/day, and in children 12 years and older - 27±6 µg/day. When BP with IS were included in the menu (model 2), iodine intake increased to 32±5 µg/day in children 7-11 years old and to 39±6 µg/day in children 12 years of age and older. In rural areas, when using model 1, iodine intake in children aged 7-11 years was 37±15 µg/day, in children aged 12 and over 40±21 µg/day. When BP with IS were included in the menu (model 2), iodine intake increased to 44±15 µg/day in children aged 7-11 years and to 50±21 µg/day in children 12 years of age and older. Conclusion. The use of IS in the preparation of salt-containing meals in preschool educational institutions of the Tyumen region fully covered the iodine requirements of preschool children, which confirms the effectiveness of the chosen strategy for the prevention of iodine deficiency and can be considered as an important part of the concept of universal salt iodization. The use of IS in preparation of school breakfast meals provides 23.5-36.9% of the recommended nutrient intake for iodine in rural schools and 15.4-26.4% of the recommended nutrient intake in urban schools, which can be a significant contribution to the total intake of this micronutrient.
Asunto(s)
Yodo , Oligoelementos , Humanos , Preescolar , Niño , Recién Nacido , Estado Nutricional , Cloruro de Sodio DietéticoRESUMEN
The current century has been declared by the WHO as the «century of autoimmune diseases¼, of which there are more than a hundred today. The natural course of any autoimmune disease is characterized by progression from a latent and subclinical to a clinical stage and is associated with the presence of specific circulating autoantibodies. During the life of a person with one verified autoimmune disease, there is a high probability of consecutive manifestation of other autoimmune pathologies. Every fourth patient with chronic autoimmune thyroiditis develops autoimmune non-thyroid pathologies during his life, and vice versa, chronic autoimmune thyroiditis is present among people with non-thyroid autoimmune diseases. Modern ideas about the pathogenetic mechanisms of the development and progression of autoimmune diseases make it possible to consider chronic autoimmune thyroiditis as a «signal pathology¼ in the multiorgan autoimmune syndrome.
Asunto(s)
Enfermedades Autoinmunes , Enfermedad de Hashimoto , Tiroiditis Autoinmune , Humanos , Tiroiditis Autoinmune/complicaciones , Enfermedades Autoinmunes/complicaciones , Autoanticuerpos , SíndromeRESUMEN
Iodine deficiency disorders (IDD) are prevalent and highly morbidity, have hidden progression, severe disabling somatic complications, including cognitive disorders, reproductive losses, and oncopathology. This presents a serious challenge to the healthcare system of the Russian Federation, as it affects over 3 million people. The lack of relevant data on the severity of IDD and the current prevention programs at the regional level necessitates the need for appropriate research and measures in individual subjects of the Russian Federation. AIM: To conduct a comprehensive study to assess the current iodine security of the population of the Chechen Republic, to analyze the prevalence of thyroid pathology and compare it with official statistics, to formulate conclusions about the necessary preventive measures. MATERIALS AND METHODS: In the Chechen Republic, a total of 1239 people were examined, of which 921 were schoolchildren of pre-pubertal age (8-10 years) and 318 were adults. The survey of the adult population was carried out at medical organizations in four districts of the republic (Nadterechny, Shalinsky, Vedensky, Grozny) and included a questionnaire survey, a clinical examination by an endocrinologist with palpation of the thyroid gland, thyroid ultrasound, and a study by a qualitative method of samples of table salt used in households for the presence of iodine.Children's examinations were carried out by the cluster method on the basis of secondary schools in 9 out of 15 districts of the republic and included an examination by an endocrinologist and measurement of anthropometric parameters (height, weight), thyroid ultrasound to evaluate volume, determination of iodine concentration in single portions of urine and qualitative analysis of samples of table salt used in children's nutrition in families for the presence of iodine.The incidence and prevalence of thyroid disease among the population of the Chechen Republic were analyzed using data from official state statistics - form No. 12 «Information on the number of diseases registered in patients living in the area served by the medical institution¼ (ROSSTAT data as of 01.01.2021). RESULTS: According to the results of a survey of 921 pre-pubertal children, the median urinary iodine concentration was 71.3 µg/L (frequency of values below 50µg/L - 17,7%) and varies from 48.9 to 179.2 µg/L in the surveyed areas. According to thyroid ultrasound data, diffuse goiter was detected in 16.4% of the examined children, with goiter frequency ranging from 11.3% to 23.5%. The proportion of iodized salt consumed in schoolchildren's families was 4.2% in all study areas (range of values from 1.3% to 8%), which indicates an extremely low level of using iodized salt by household.According to the results of the examination of the adult population (n=318), structural changes in thyroid tissue were detected in 79.9% (n=254), while the proportion of nodular thyroid pathology being 83% (n=205), with a range of values across different districts of 52.5-80%. CONCLUSION: Based on the obtained data, according to WHO criteria, it can be stated that, overall, the degree of severity of iodine deficiency disorders in the Chechen Republic corresponds to mild severity with a tendency towards moderate severity in several districts of the foothills. The results of the examination of the adult population indicate a high prevalence of thyroid pathology, predominantly nodular, in the Chechen Republic. The data obtained in the course of large-scale research made it possible to initiate the development of necessary medical and organizational measures in the region - a program for the prevention of IDD.
Asunto(s)
Bocio , Yodo , Desnutrición , Adulto , Niño , Humanos , Cloruro de Sodio Dietético , Bocio/epidemiología , Bocio/prevención & controlRESUMEN
Endogenous hypercorticism (EH) is a severe symptom complex caused by hypercortisolemia; according to the etiology, ACTH-dependent and ACTH-independent variants are distinguished, which, according to the literature, occur in 70-80% and 20-30% of cases, respectively. A rare cause of ACTH-dependent endogenous hypercorticism is ACTH-ectopic syndrome (ACTH-ES) (about 15-20% of cases). ACTH-ES is a syndrome of adrenocorticotropic hormone (ACTH) hyperproduction by neuroendocrine tumors of extrahypophyseal origin. Various tumors can secrete ACTH: bronchopulmonary carcinoid, small cell lung cancer, less frequently, thymus carcinoid, islet cell tumors and pancreatic carcinoid, medullary thyroid cancer, carcinoid tumors of the intestine, ovaries, as well as pheochromocytoma (PCC).This publication presents a clinical case of rarely detected paraneoplastic ACTH production by pheochromocytoma. The patient had clinical manifestations of hypercorticism, therefore, she applied to the Russian National Research Center of Endocrinology of the Ministry of Health of Russia. During the examination Cushing's syndrome (CS) was confirmed, multispiral computed tomography (MSCT) of the abdominal cavity revealed a voluminous formation of the left adrenal gland. Additional examination recorded a multiple increase in urinary catecholamine levels. Subsequently, the patient underwent left-sided adrenalectomy. The diagnosis of pheochromocytoma was confirmed morphologically, immunohistochemical study demonstrated intensive expression of chromogranin A and ACTH by tumor cells.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Feocromocitoma , Humanos , Feocromocitoma/complicaciones , Feocromocitoma/patología , Feocromocitoma/metabolismo , Femenino , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/patología , Neoplasias de las Glándulas Suprarrenales/metabolismo , Síndrome de Cushing/etiología , Síndrome de Cushing/patología , Hormona Adrenocorticotrópica/sangre , Hormona Adrenocorticotrópica/metabolismo , Adulto , Síndrome de ACTH Ectópico/etiología , Síndrome de ACTH Ectópico/diagnóstico , Síndrome de ACTH Ectópico/patología , Persona de Mediana EdadRESUMEN
BACKGROUND: Thyrotropin-secreting pituitary adenomas (TSH-PA) are a rare cause of thyrotoxicosis and account for 0.5-2% of all pituitary adenomas. Taking into account the rarity of the disease, it is extremely important to analyze each case of TSH-PA. AIM: To analyze the clinical characteristics and treatment outcomes of patients with TSH-PA, as well as to determine preoperative and early postoperative factors that predict long-term remission. MATERIALS AND METHODS: In a single-center retrospective study we analyzed clinical signs, laboratory and instrumental studies, as well as the treatment outcomes of patients with TSH-PA from 2010 to 2023. Preoperative factors, as well as TSH level measured on day 3 postoperatively, were evaluated for their ability to predict long-term remission when comparing groups of patients with and without remission. RESULTS: The study included 45 patients with TSH-PA (14 men, 31 women), with a median age of 45 years [30; 57]. The most common clinical manifestations of TSH-PA were: cardiac arrhythmia in 37 (82.2%) patients, thyroid pathology in 27 (60%), neurological disorders in 24 (53.35%). Most PAs were macroadenomas (n=35, 77.8%). Preoperatively, 28 (77.8%) patients received somatostatin analogs, and 20 (71.4%) patients were euthyroid at the time of surgery. Surgical treatment was performed in 36 (80%) patients, postoperative remission was achieved in 31 cases (86.1%). Administration of somatostatin analogues to patients with no remission/relapse after surgery lead to the remission in 100% of cases (4/4). A 1 mm increase in PA size raised the odds of recurrence/no remission by 1.15-fold,and PA invasion during surgery - by 5.129 fold. A TSH level on day 3 postoperatively above 0.391 mIU/L (AUC, 0.952; 95% CI 0.873-1.000; standard error 0.04; p<0.001) identifies patients with relapse/absence of remission after surgical treatment (sensitivity = 100%, specificity = 88.9%). CONCLUSION: The TSH-PA in the structure of PAs is extremely rare, and as a result, most of them are misdiagnosed and detected already at the stage of macroadenoma. The most effective method of treatment is transnasal transsphenoidal adenomectomy. Somatostatin analogues can be used as second-line therapy if surgical treatment is ineffective. We have proposed a possible model for postoperative TSH levels (>0.391 mU/l) to predict recurrence of TSH-PA, which requires validation on an expanded number of cases.
Asunto(s)
Adenoma , Neoplasias Hipofisarias , Tirotropina , Humanos , Masculino , Femenino , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/tratamiento farmacológico , Neoplasias Hipofisarias/sangre , Persona de Mediana Edad , Tirotropina/sangre , Adulto , Estudios Retrospectivos , Adenoma/cirugía , Adenoma/patología , Adenoma/tratamiento farmacológico , Adenoma/complicaciones , Resultado del Tratamiento , Somatostatina/uso terapéutico , Somatostatina/análogos & derivadosRESUMEN
Breast cancer (BC) is a serious disease and is considered an important health problem worldwide. The prevalence of the disease in women according to Rosstat was 64,951 cases in the Russian Federation in 2020 (21.7% among all types of cancer). Hormone-dependent estrogen receptor-positive (HR+), human epidermal growth factor receptor type 2 negative (HER2-) metastatic breast cancer (mBC) accounts for 70% of all cases. About 40% of patients with ER+/HER2- mBC have mutations in the PIK3CA gene, leading to hyperactivation of the alpha isoform (p110α) of phosphatidylinositol 3-kinase (PI3K). Hormonal therapy with or without cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor is considered the standard treatment for patients with ER+/HER2- mBC. However, acquired resistance to this therapy remains a problem. Innovative methods for the treatment of breast cancer are the use of targeted therapeutic agents aimed at direct inhibition of the PI3K pathway in combination with hormone therapy. Alpelisib is a PI3Kα-specific inhibitor. Hyperglycemia is the most common side effect of alpelisib treatment. Currently, there is a consensus on the prevention and correction of hyperglycemia in patients receiving therapy with alpelisib, which recommends that before starting therapy, in order to diagnose carbohydrate metabolism disorders and assess the risk of developing hyperglycemia, determine in all patients: the level of glycated hemoglobin (HbA1c), glucose fasting plasma (FPG), body mass index (BMI). And also to evaluate such risk factors as the presence of a family history of type 2 diabetes mellitus (DM 2), the presence of gestational diabetes in the patient's history, or the fact of the birth of children weighing more than 4 kilograms.Recently, new combinations of drugs have been actively used to treat disorders of carbohydrate metabolism, such as pioglitazone + metformin. This paper discusses the mechanism of action of PI3K inhibitors, new therapeutic combinations and their undesirable effects, and presents therapeutic experience.
Asunto(s)
Neoplasias de la Mama , Tiazoles , Humanos , Femenino , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Tiazoles/uso terapéutico , Tiazoles/efectos adversos , Persona de Mediana Edad , Hiperglucemia/inducido químicamente , Hiperglucemia/genéticaRESUMEN
Adrenocortical carcinoma (ACC) is a rare malignant tumor originating in the adrenal cortex and characterized by poor 5-year survival. It occurs with a frequency of 2-4 cases per 2 million in the population. Women are more frequently affected than men and it is mostly detected in the fourth and fifth decades. In the most of cases, the cancerogenesis occurs sporadically because of gene driver mutations in somatic adrenocortical cells, in other cases it can be found as part of a genetically determined syndrome such as Li-Fraumeni syndrome or Wermer's syndrome (multiple endocrine adenomatosis type I). ACC most frequently happens occurs without symptoms in the initial stages leading to poor diagnoses. Because of this lack of early detection, the tumor is not considered malignant reducing the benefits of further treatment. Sometimes the fact that the resected tumor is indeed adrenocortical carcinoma becomes clear only after recurrence, or after the appearance of metastases. We present a case of adrenocortical carcinoma in a 46-year-old woman who went to the doctor in 1.5 year after symptoms were manfested. This clinical case illustrates the consequences of late diagnosis of a malignant tumor. We would like to emphasize the importance of timely detection of a neoplasm, using all of the potential of laboratory-instrumental and genomic analysis. Due to low oncological awareness, our patient was slow to seek medical help, which in turn led not only to metastases, but also to complications in the cardiovascular system.
Asunto(s)
Neoplasias de la Corteza Suprarrenal , Carcinoma Corticosuprarrenal , Diagnóstico Tardío , Humanos , Femenino , Neoplasias de la Corteza Suprarrenal/diagnóstico , Neoplasias de la Corteza Suprarrenal/genética , Persona de Mediana Edad , Carcinoma Corticosuprarrenal/diagnóstico , Carcinoma Corticosuprarrenal/genéticaRESUMEN
BACKGROUND: The research of cytokine-induced thyropathies in the midst of continuing coronavirus infection (COVID-19) pandemic is a very important and urgent problem. On the one hand, COVID-19 is often accompanied by a massive overproduction of cytokines, so we can expect an enhanced cytokines effects impact on the thyroid gland. On the other hand, it is possible that biological therapy with tocilizumab, which has a powerful immunosuppressive effect, plays a protective role to the development of cytokines-induced thyropathies amidst COVID-19. The results of the study should be the starting point for understanding the mechanisms of possible compromise of thyroid function during COVID-19. AIM: The primary endpoint is to assess the relationship between the levels of thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), and free thyroxine (FT4) with the inflammatory process markers. The secondary endpoint is the identification of an association between TSH, FT3 and FT4 values, and patient survival. MATERIALS AND METHODS: This retrospective, single-center study included 122 patients hospitalized at the National Medical Research Center for Endocrinology with a clinical and laboratory analysis of COVID-19 and bilateral polysegmental viral pneumonia. To assess the functional status of the thyroid gland all patients underwent observation of the TSH, FT3, FT4, antibodies to thyroid peroxidase, antibodies to the TSH receptor (AT-recTSH). The markers of the inflammatory process were assessed: interleukin-6, C-reactive protein, the degree of lung tissue damage according to multispiral computed tomography of the lungs, the percentage of blood oxygen saturation (SpO2), the treatment outcomes. RESULTS: Five (4%) patients were found with subclinical thyrotoxicosis. Serum TSH values were inversely correlated with interleukin-6 (r=-0.221; p=0.024). Analysis of the level of hospital mortality, stratified by TSH, revealed statistically significantly lower TSH values in the group of deceased patients (p=0.012). The median TSH in surviving patients was 1.34 [0.85; 1.80], for the deceased 0.44 [0.29; 0.99]. CONCLUSION: Our research shows that the trigger of thyropathies in coronavirus infection is most likely thyroid tissue damage by the proinflammatory cytokines. This study shows some specific clinical aspects regarding the clinical relevance in patients with thyrotoxicosis and COVID-19, namely, the high hospital mortality rate.
Asunto(s)
COVID-19 , Enfermedades de la Tiroides , Tirotoxicosis , Humanos , Tiroxina , Interleucina-6 , COVID-19/complicaciones , Estudios Retrospectivos , Tirotropina , Enfermedades de la Tiroides/complicaciones , Pruebas de Función de la Tiroides , CitocinasRESUMEN
The increasing number of overweight and obese people makes the search for new effective ways to reduce body weight extremely urgent. Recently, intermittent fasting has received a lot of attention, as a dietary protocol, presumably effective in reducing body weight. Despite the large number of studies, the effects of intermittent fasting on the human body are controversial, since studies differ in dietary options, design, and often have a small sample size. In this review of the literature, the authors cite the results of studies of the effectiveness of intermittent fasting in patients with obesity, diabetes mellitus, and high risks of developing cardiovascular diseases.
Asunto(s)
Diabetes Mellitus , Ayuno , Humanos , Sobrepeso , Obesidad , Peso Corporal , Diabetes Mellitus/etiologíaRESUMEN
The National Consensus was prepared with the participation of the National Medical Association for the Study of the Multimorbidity, Russian Scientific Liver Society, Russian Association of Endocrinologists, Russian Association of Gerontologists and Geriatricians, National Society for Preventive Cardiology, Professional Foundation for the Promotion of Medicine Fund PROFMEDFORUM. The aim of the multidisciplinary consensus is a detailed analysis of the course of non-alcoholic fatty liver disease (NAFLD) and the main associated conditions. The definition of NAFLD is given, its prevalence is described, methods for diagnosing its components such as steatosis, inflammation and fibrosis are described. The association of NAFLD with a number of cardio-metabolic diseases (arterial hypertension, atherosclerosis, thrombotic complications, type 2 diabetes mellitus, obesity, dyslipidemia, etc.), chronic kidney disease and the risk of developing hepatocellular cancer were analyzed. The review of non-drug methods of treatment of NAFLD and modern opportunities of pharmacotherapy are presented. The possibilities of new molecules in the treatment of NAFLD are considered: agonists of nuclear receptors, antagonists of pro-inflammatory molecules, etc. The positive properties and disadvantages of currently used drugs (vitamin E, thiazolidinediones, etc.) are described. Special attention is paid to the multi-target ursodeoxycholic acid molecule in the complex treatment of NAFLD as a multifactorial disease. Its anti-inflammatory, anti-oxidant and cytoprotective properties, the ability to reduce steatosis an independent risk factor for the development of cardiovascular pathology, reduce inflammation and hepatic fibrosis through the modulation of autophagy are considered. The ability of ursodeoxycholic acid to influence glucose and lipid homeostasis and to have an anticarcinogenic effect has been demonstrated. The Consensus statement has advanced provisions for practitioners to optimize the diagnosis and treatment of NAFLD and related common pathogenetic links of cardio-metabolic diseases.
Asunto(s)
Anticarcinógenos , Diabetes Mellitus Tipo 2 , Neoplasias Hepáticas , Enfermedad del Hígado Graso no Alcohólico , Tiazolidinedionas , Adulto , Humanos , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Enfermedad del Hígado Graso no Alcohólico/terapia , Diabetes Mellitus Tipo 2/complicaciones , Ácido Ursodesoxicólico/uso terapéutico , Antioxidantes/uso terapéutico , Anticarcinógenos/uso terapéutico , Hígado/patología , Tiazolidinedionas/uso terapéutico , Glucosa , Inflamación , Vitamina E , Antiinflamatorios/uso terapéutico , LípidosRESUMEN
The article presents current data on the prevalence of thyroid diseases associated with iodine deficiency in Russia, focuses on the features of the comorbidity of iodine deficiency and autoimmune thyroid pathologies, methods for assessing the iodine supply of the population. Information about the study and prevention of iodine deficiency diseases (IDD) in the USSR and the Russian Federation is given. The history of legislative initiatives aimed at eliminating dietary iodine deficiency and preventing IDD is illustrated in detail. The ways of solving the problem of iodine deficiency at the present stage, both at the federal and regional levels, are proposed.
Asunto(s)
Yodo , Desnutrición , Enfermedades de la Tiroides , Humanos , Federación de Rusia/epidemiología , Enfermedades de la Tiroides/epidemiología , Enfermedades de la Tiroides/prevención & controlRESUMEN
The strategy for the elimination of diseases associated with iodine deficiency throughout the Russian Federation is based on the adoption of a federal law providing for the use of iodized salt as a means of mass (population) iodine prophylaxis. Chronic iodine deficiency that exists in Russia leads to dramatic consequences: the development of mental and physical retardation in children, cretinism, thyroid diseases, and infertility. Under conditions of iodine deficiency, the risk of radiation-induced thyroid cancer in children in the event of nuclear disasters increases hundreds of times. By definition, all iodine deficiency diseases (IDDs) can be prevented, while changes caused by iodine deficiency during fetal development and in early childhood are irreversible and practically defy treatment and rehabilitation. The actual average consumption of iodine by a resident of Russia is only 40-80 mcg per day, which is 3 times less than the established norm (150-250 mcg). Every year, more than 1.5 million adults and 650 thousand children with various thyroid diseases turn to medical institutions. The cause of 65% of cases of thyroid disease in adults and 95% in children is insufficient intake of iodine from the diet. At the stage of preparing the relevant legislative act, the development and implementation of regional programs for the prevention of IDD is of utmost importance. A typical draft of such a program is proposed in this article for its adaptation and use at the regional level.
Asunto(s)
Hipotiroidismo Congénito , Yodo , Neoplasias Inducidas por Radiación , Enfermedades de la Tiroides , Adulto , Niño , Preescolar , Hipotiroidismo Congénito/epidemiología , Hipotiroidismo Congénito/etiología , Hipotiroidismo Congénito/prevención & control , Humanos , Yodo/uso terapéutico , Neoplasias Inducidas por Radiación/complicaciones , Neoplasias Inducidas por Radiación/tratamiento farmacológico , Enfermedades de la Tiroides/epidemiología , Enfermedades de la Tiroides/prevención & controlRESUMEN
.
Asunto(s)
Bocio Endémico , Yodo , Bocio Endémico/prevención & control , Humanos , Yodo/uso terapéuticoRESUMEN
BACKGROUND: The cocaine-amphetamine regulated transcript has been discovered long time ago (circa over 25 years ago) but still stays not enough investigated. Just during last five years scientist's society started providing interest to the genomic, proteomic and metabolic essence of the cocaine-amphetamine regulated transcript. AIM: The evaluation of historical pathway and perspectives of the cocaine-amphetamine regulated transcript medical investigations. MATERIALS AND METHODS: The literature search has been provided via Russian (eLibrary, CyberLeninka.ru) and international (PubMed, Cochrane Library) databases and among articles on Russian and English languages. The main criteria for article selection was free access and 2019-2021 years of publishing. Although the introduction is based on the articles published in 1989. The present article was created according to the federal project «Central and peripheral pathophysiological mechanisms of adipose tissue diseases and their clinical and hormonal manifestations паÑоÑизиологиÑеÑкие Ð¼ÐµÑ Ð°Ð½Ð¸Ð·Ð¼Ñ ÑазвиÑÐ¸Ñ Ð±Ð¾Ð»ÐµÐ·Ð½ÐµÐ¹ жиÑовой Ñкани Ñ ÑÑеÑом клиниÑеÑÐºÐ¸Ñ Ð¸ гоÑмоналÑнÑÑ Ñ Ð°ÑакÑеÑиÑÑик¼ (2020-2022)RESULTS AND CONCLUISON: It is necessary to keep on investigating genomic, proteomic and metabolomic markers because they contain important clues for successful resistance against human diseases. The 21st century is the era of transformation from simple clinical medicine to personalized science. For example, researches in the area of cocaine-amphetamine regulated transcript may result in invention of genetic medicine against dangerous metabolic diseases.
Asunto(s)
Anfetamina , Cocaína , Cocaína/farmacología , Humanos , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Proteómica , Federación de RusiaRESUMEN
Primary hyperaldosteronism (PHA) is the most common form of endocrine hypertension. Until recently, the reason for the development of this condition was believed to be the presence of genetic mutations, however, many studies declare that the disease can be polyetiologic, be the result of genetic mutations and autoimmune triggers or cell clusters of aldosterone-producing cells diffusely located in the adrenal gland at the zona glonerulosa, zona fasculata, zona reticularis, as well as directly under the adrenal capsule. Recently, the actions of autoantibodies to type 1 angiotensin II receptors have been described in patients with renal transplant rejection, with preeclampsia, and with primary hyperaldosteronism. The diagnostic role of antibodies in both forms of PHA (aldosterone-producing adenoma and bilateral hyperaldosteronism) requires clarification. Diagnosis and confirmation of the focus of aldosterone hypersecretion is a multi-stage procedure that requires a long time and economic costs. The relevance of timely diagnosis of primary hyperaldosteronism is to reduce medical and social losses. This work summarizes the knowledge about genetic mutations and presents all the original studies devoted to autoantibodies in PHA, as well as discusses the diagnostic capabilities and limitations of the available methods of primary and differential diagnosis of the disease and the prospects for therapy.
Asunto(s)
Aldosterona , Hiperaldosteronismo , Glándulas Suprarrenales/metabolismo , Aldosterona/metabolismo , Autoanticuerpos/genética , Humanos , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/genética , InmunogenéticaRESUMEN
BACKGROUND: Pregnancy is a condition with important structural and physiological changes in the thyroid gland. In this regard, experts of thyroid associations have recommended developing specific reference intervals taking into account the natural and socio-geographical characteristics of the region under study. AIM: To conduct an epidemiological analysis and evaluate TSH reference intervals in pregnant women living in the central regions of the Russian Federation with mild iodine deficiency. MATERIALS AND METHODS: We have conducted the observational multicenter cross-sectional study included 2008 healthy pregnant women at different trimesters of pregnancy, from three regions of the Russian Federation (Moscow, Ivanovo and Smolensk). We assessed the level of thyroid-stimulating hormone, antibodies to thyroid peroxidase, antibodies to serum thyroglobulin, the level of iodine concentration in the morning portion of urine (cerium arsenic method) and we have conducted a questionnaire (date birth and gestational age). Women with elevated titers of anti-TPO and/or anti-TG antibodies were excluded from the study (245 women). As a result, we assessed high and medium levels of TSH and its overestimation with iodine sufficiency in pregnant women. The results are presented using the calculation of 2.5 and 97.5 percentiles. RESULTS: We confirmed the presence of iodine deficiency in the study areas. The median concentration of iodine in the urine was: in Moscow 106 µg/l, in Ivanovo 119 µg/l, in Smolensk 134 µg/l. Pregnant women were divided into 2 groups according to iodine adequacy. In the group with optimal iodine supply, the level of TSH was 0,006-3,36 in the 1st trimester, 0,20-3,74 in the 2nd trimester, and 0,33-3,68 mIU/L in the 3rd trimester. In the group with mild iodine deficiency - in the 1st trimester it was 0,11-3,00, in the 2nd trimester 0,22-3,78, in the 3rd trimester 0,07-3,04 mIU/l. Statistical analysis of the data revealed that when comparing the level of TSH by trimester, depending on the place of residence, no statistical difference was found (p = 0,239). CONCLUSION: We obtained that the level of TSH in healthy pregnant women living in the central regions of the Russian Federation does not exceed 3.8 mIU/l in all trimesters.
Asunto(s)
Yodo , Pruebas de Función de la Tiroides , Femenino , Embarazo , Humanos , Mujeres Embarazadas , Estudios Transversales , Tirotropina , Yodo/orina , Parto , Federación de RusiaRESUMEN
On September 30, 2022, a meeting of the interdisciplinary expert council "Prevention and treatment of obesity. How to Achieve a Healthy Metabolic Balance. To reduce the social and economic burden of obesity and its consequences in the Russian Federation, it is necessary to introduce socially significant initiatives to prevent obesity and increase its detection rate, as well as to update modern approaches to the treatment of this chronic disease, taking into account its multifactorial pathogenesis, comorbidity, risk of complications and patient disability. Based on the results of the scientific reports and discussions held during the expert council, the experts made decisions on a further plan within the framework of socially significant initiatives for the prevention of obesity.
Asunto(s)
Obesidad , Humanos , Obesidad/complicaciones , Federación de RusiaRESUMEN
The study of the sufficiency with essential trace elements in the context of thyroid pathology is especially relevant, since the development and progression of thyroid diseases have various pathogenetic mechanisms, which largest proportion is provoked by insufficient intake of key trace elements, primarily iodine. The aim of the research was obtaining primary data on the sufficiency with essential trace elements of the population in the some regions of the Russian Federation, comparing the data obtained with the prevalence of goiter and the carriage of antibodies to thyroid peroxidase (AT-TPO). Material and methods. The Cross-Sectional Population Study was conducted in medical institutions of the Republics of Crimea, Republics of Tuva and Bryansk region (persons applied for outpatient consultations). The scope of the study was 387 people aged 18 to 65 years (the average age was 40±5 years). All of them underwent: collection of medical history, endocrinologist examination with palpation of the thyroid gland (TG), ultrasound examination of TG, blood sampling to assess the levels of thyroid-stimulating hormone (TSH), AT-TPO, iodine, selenium, zinc. Ultrasound of the TG was performed in the supine position using a portable ultrasound machine LOGIQe (China) with a multi-frequency linear probe 10-15 MHz. During the study, the volume of the thyroid gland, the presence of nodular formations and their characteristics according to the TIRADS classification, TG structure and its echogenicity were assessed. Iodine, selenium and zinc level were measured using tandem mass spectrometry with ionization in inductively coupled plasma (Agilent 8900 ICP-MS Triple Quad). TSH and Ab-TPO were determined by chemiluminescent immunoassay on the Architect i2000 automatic analyzer. Results. All regions are comparable in terms of iodine availability, but differ in the severity of natural iodine deficiency. The median concentration of iodine in blood serum practically coincided in all three regions, amounting to 39.8 µg/l in the Republic of Crimea; 38.8 µg/l in the Republic of Tyva and 43.4 µg/l in the Bryansk region. Comparing these results with foreign data, as well as with our results on urinary iodine level, obtained by routine cerium-arsenite method, we can assume that iodine content in blood serum corresponded to the lower limit of the normal target values. The median concentration of selenium in blood serum also practically coincided in all three regions, amounting to 68.2, 72.1 and 62.8 µg/l, respectively, and probably meets the criteria for optimality. The median serum concentration of zinc in Bryansk region residents corresponded to a deficiency (491.3 µg/l) and was significantly lower compared to the indicator in the Republics of Crimea and Tyva (1633.2 and 1667.6 µg/l, respectively, values above optimal). Among the examined, the proportion of people with AB-TPO carriership was 23.5% (Republic of Crimea - 20.9%, Republic of Tuva - 26.4%, Bryansk region - 20.7%), with impaired thyroid function - 9.6% (6.2% - hypothyroidism, 3.4% - thyrotoxicosis). The frequency of goiter varied from 10 to 13.8%. There were no significant differences in the frequency of occurrence, ultrasonic characteristics of goiter and thyroid nodules by regions. Conclusion. However, the results obtained do not allow to unequivocally judge the absence of micronutrient deficiency in the population of the regions of the Russian Federation, since used the ICP-MS method requires the development of our own reference values of trace elements; in the absence of the latter, data from similar foreign studies were taken as standards. In addition, in further studies it will be important to take into account additional criteria for assessing trace element deficiency, for example, activity of superoxide dismutase and alkaline phosphatase as indirect markers of zinc deficiency, etc. Correlation between blood serum concentration of trace elements and the frequency and structural characteristics of goiter, the carriage of Ab-TPO, and dysfunction of the TG was not revealed.