A5004923664- Adrenal Hormones and Disorders
- Diabetes and associated disorders
- Hormonal Regulation and Hypertension
- Sexual Differentiation and Disorders
- Thyroid Disorders and Treatments
- Bone Tumor Diagnosis and Treatments
- Adipose Tissue and Metabolism
- Growth Hormone and Insulin-like Growth Factors
- Nuclear Structure and Function
- Systemic Lupus Erythematosus Research
- Parathyroid Disorders and Treatments
- Hormonal and reproductive studies
- Pituitary Gland Disorders and Treatments
- Sarcoma Diagnosis and Treatment
- Human Health and Disease
- Reproductive System and Pregnancy
- Tumors and Oncological Cases
- Genetic Syndromes and Imprinting
- interferon and immune responses
- Cardiac tumors and thrombi
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Bone health and treatments
- Thyroid and Parathyroid Surgery
- Vascular Tumors and Angiosarcomas
- Biotin and Related Studies
Endocrinology Research Center
2009-2024
Institute of Physiologically Active Compounds
2023
Ministry of Health of the Russian Federation
2018-2022
Sechenov University
2016-2017
National Research Center for Hematology Russian Academy of Medical Sciences
2013
Patients with biallelic loss-of-function variants of AIRE suffer from autoimmune polyendocrine syndrome type-1 (APS-1) and produce a broad range autoantibodies (auto-Abs), including circulating auto-Abs neutralizing most type I interferons (IFNs). These were recently reported to account for at least 10% cases life-threatening COVID-19 pneumonia in the general population. We report 22 APS-1 patients 21 kindreds seven countries, aged between 8 48 yr infected SARS-CoV-2 since February 2020. The...
ContextAutoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the regulator (AIRE) gene and characterized chronic mucocutaneous candidiasis, hypoparathyroidism, primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare.
Acquired lipodystrophy is often characterized as an idiopathic subtype of lipodystrophy. Despite suspicion immune-mediated pathology, biomarkers such autoantibodies are generally lacking. Here, we used unbiased proteome-wide screening approach to identify the adipocyte-specific lipid droplet protein perilipin 1 (PLIN1) in a murine model autoimmune polyendocrine syndrome type (APS1). We then tested for PLIN1 human subjects with acquired two independent severe breaks immune tolerance...
<i>Background:</i> Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis during early stages often challenging. <i>Aim:</i> We aimed to provide clinical mutational data...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; also known as autoimmune polyendocrine syndrome type 1) has a severe, unpredictable course. Autoimmunity and disease components may affect fertility predispose to maternal fetal complications, but pregnancy outcomes remain unknown.To assess course of clinical APECED manifestations during in women with APECED.A multicenter registry-based study including 5 national patient cohorts.321 females APECED.Number pregnancies,...
This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics type 1 autoimmune polyglandular syndrome (APS-1) evaluate specificity sensitivity HEK-Blue cells method used detect these antibodies. The included 34 patients presenting with APS-1 21 focal alopecia. All 100% ehxhibited high titers anti IFN-ωantibodies; 97% them had IFN-a2 These were not found It is concluded that measurement IFN-α α2 use a highly specific sensitive for APS-1.
A 26-year-old female with the classic major and minor components of autoimmune polyglandular syndrome type 1 was diagnosed as having pure red cell aplasia. Treatment 1.5 g/d mycofenolate mofetil for 3 months failed to restore erythroid production. cyclosporine produced a good partial response but led renal toxicity therefore substituted cyclophosphamide, which had effect lasted 18 months. The relapse anemia not observed during 6-month follow-up period after cessation treatment.
The precocious puberty is an urgent problem of pediatric endocrinology characterized by clinical and pathogenetic heterogeneity. appearance secondary sex characteristics before the age 8 years in girls 9 boys requires timely diagnosis appointment pathogenetically justified treatment order to achieve target indicators final growth prevent social deprivation. developed guidelines are main working tool practitioner. They briefly structurally present information about epidemiology modern...
Autoantibodies against type 1 interferons (IFN-I) are a highly specific marker for autoimmune polyglandular syndrome (APS-1). Moreover, determination of antibodies to omega-interferon (IFN-ω) and alpha2-interferon (IFN-α2) allows short-term diagnosis in patients with isolated atypical forms APS-1. In this study, comparison three different methods, namely multiplex microarray-based, cell-based enzyme-linked immunosorbent assays detection alpha2-interferon, was carried out. A total 206 serum...
Carney complex is a rare hereditary syndrome characterized by an autosomal-dominant mode of inheritance and associated with multiple neoplasias affecting endocrine organs. The typical manifestations this include pigmented micronodular adrenal dysplasia, lentiginosis, heart skin myxomas, giant cell sertoliomas, some other neoplasias. To date, few hundred patients pathology have been described worldwide. A review the available data about presented.
Article Efficacy and Safety of Valtropin™ in the Treatment Short Stature Girls with Turner's Syndrome was published on October 1, 2004 journal Journal Pediatric Endocrinology Metabolism (volume 17, issue 10).
Autoantibodies against type 1 interferons (IFN-I) are highly specific marker for autoimmune polyglandular syndrome (APS-1). In this study, a comparison of three different me-thods, namely, multiplex microarray-based, cell-based and enzyme-linked immunosorbent assays detection antibodies omega-interferon alpha2-interferon was carried out. A total 206 serum samples from adult patients with APS-1, APS-2, isolated endocrine pa-thologies, non-autoimmune disorders healthy individuals were...
Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by of the human receptor (hGR) to glucocorticoids (GR) and characterised general or partial insensitivity target organs GK. Compensatory activation hypothalamic-pituitary-andrenal axis results in development various pathological conditions overstimulation adrenal glands. Clinical spectrum may range from asymptomatic cases severe mineralocorticoid and/or androgen excess. At present time, primary...
Epileptic seizures require differential diagnosis with other paroxysmal conditions, including metabolic seizures. A variety of electrolyte changes can result in central nervous system dysfunction, that as convulsive The paper describes disorders leading to seizures, well their clinical features. It separately presents the syndromes accompanied by hypocalcemia, which there may be paroxysms. three cases hypocalcemic gives recommendations for and management patients suspected
Hypoparathyroidism is a rare etiologically heterogeneous condition that manifests itself in the children first place as hypocalcemia. The purely hypocalcemic convulsions are usually interpreted manifestations of epilepsy which leads to prescription an inadequate treatment. early diagnostics and correct therapy ensure normal development social adaptation affected child. present clinical guidelines developed at Institute Pediatric Endocrinology, Endocrinological Research Centre, highlight...
The idiopathic form of premature sexual development (PSD) is the commonest variety among central forms PSD (accounting for 30 to 70% total). It occurs primarily in girls. prevalence hypothalamic hamartoma (HH) as a cause on whole lower, but it most frequently diagnosed children either sex under age 3 years with clinical manifestations true PSD. Diagnostics and treatment different constitute an appreciable part practical work pediatric endocrinologist. efficacy therapy luliberin analogs has...
Congenital hypopituitarism is usually diagnosed in children with growth retardation. Severe life-threatening hypoglycemia and cholestasis can be early manifestations of neonates. The pituitary stalk interruption syndrome revealed by MRI confirms the diagnosis congenital hypopituitarism. We report six cases admitted recurrent ketotic since age. median age first clinical presentation was 16 months. at primary endocrinological examination 45 At none patients had failure. Neonatal jaundice...
Background. Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders associated with tissue insensitivity to parathyroid hormone. PHP characterized by genetic heterogeneity and variable phenotype. In addition the hypocalcemic syndrome resistance hormone, also phenotypic features other hormones (TSH, LH, FSH, GHRH), which are known as Albright Hereditary Osteodystrophy (AHO). Until recently, no analysis large cohorts patients has been performed in Russian literature. Objective —...
McCune-Albright syndrome (MAS) is a rare genetic disorder which caused by somatic mutations in the GNAS gene. Clinical symptoms of MAS include café-au-lait skin pigmentation, fibrous dysplasia, and autonomous endocrine hyperfunction. Somatic character gene defects determines wide variety manifestations, from mild forms with minimum presentation to severe conditions aggressive course. Potential multicomponent form necessitates dynamic monitoring, including regular screening for possible...