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215 results on '"Mokrysheva, Natalia"'

4. Analysis of Bone Phenotype Differences in MEN1-Related and Sporadic Primary Hyperparathyroidism Using 3D-DXA.

Author

Eremkina, Anna K., Pylina, Svetlana V., Elfimova, Alina R., Gorbacheva, Anna M., Humbert, Ludovic, López Picazo, Mirella, Hajrieva, Angelina V., Solodovnikova, Ekaterina N., Kovalevich, Liliya D., Vetchinkina, Ekaterina A., Bondarenko, Ekaterina V., Tarbaeva, Natalia V., and Mokrysheva, Natalia G.

Subjects
BONE density, COMPACT bone, CANCELLOUS bone, BONE remodeling, HYPERPARATHYROIDISM
Abstract

Background: The rarity and variability of MEN1-related primary hyperparathyroidism (mPHPT) has led to contradictory data regarding the bone phenotype in this patient population. Methods: A single-center retrospective study was conducted among young age- and sex-matched patients with mPHPT and sporadic hyperparathyroidism (sPHPT). The main parameters of calcium–phosphorus metabolism, bone remodeling markers, and bone mineral density (BMD) measurements were obtained during the active phase of hyperparathyroidism before parathyroidectomy (PTE) and 1 year after. Trabecular Bone Score (TBS) and 3D-DXA analysis of the proximal femur were used to evaluate the differences in bone architecture disruption between groups. Results: Patients with mPHPT had significant lower preoperative BMD compared to sPHPT at lumbar spine—LS (p = 0.002); femur neck—FN (p = 0.001); and total hip—TH (p = 0.002). 3D-DXA analysis showed the prevalence of cortical rather than trabecular bone damage in mPHPT compared to sPHPT: cortical thickness (p < 0.001); cortical surface BMD (p = 0.001); cortical volumetric BMD (p = 0.007); and trabecular volumetric BMD (p = 0.029). One year after, PTE DXA and 3D-DXA parameters were similar between groups, while 3D-visualisation showed more extensive regeneration in cortical sBMD and cortical thickness in mPHPT. Conclusions: mPHPT is associated with lower preoperative BMD values with predominant architecture disruption in the cortical bone. The absence of differences in DXA and 3D-DXA parameters 1 year after PTE between mPHPT/sPHPT combined with significantly lower BMD in mPHPT at the initial stage may indicate faster bone recovery after surgery in mPHPT than in sPHPT. [ABSTRACT FROM AUTHOR]

Published
2024
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5. MicroRNA binding site variants-new potential markers of primary osteoporosis in men and women.

Author

Yalaev, Bulat, Deev, Roman, Tyurin, Anton, Salakhov, Ramil, Smirnov, Kirill, Eremkina, Anna, Mokrysheva, Natalia, Minniakhmetov, Ildar, and Khusainova, Rita

Subjects
FEMORAL neck fractures, BONE density, OSTEOPOROSIS in women, LOCUS (Genetics), BINDING sites
Abstract

Introduction: The identification of significant DNA markers of primary osteoporosis may gain new insights by studying genome regions involved in mechanisms of epigenetic regulation through interactions with microRNAs. Methods: The authors searched for associations of polymorphic variants of microRNA binding sites of mRNA target genes and polymorphic loci of microRNA genes with primary osteoporosis in a cohort of women and men from the Volga-Ural region of Russia (N = 1.177). Results: Using case-control association analysis, the authors found that rs1061947 (COL1A1), rs10793442 (ZNF239), rs6854081 (FGF2), and rs11614913 (miR-196a) were associated with osteoporotic fractures; rs5854 (MMP1) and rs2910164 (miR-146a) were associated with low bone mineral density; and rs10098470 (TPD52), rs11540149 (VDR), rs1042673 (SOX9), rs1054204 (SPARC), and rs1712 (FBXO5) were markers of both fractures and low bone mineral density. Among the identified associations, ethno specific trends were found, as well as sex-specific associations. Prognostic models were developed, among which the model for predicting osteoporosis in general in women (Area Under Curve = 0.909) achieved the highest level of predictive value. Thus, the potential role of polymorphic variants of microRNA binding sites in the development of primary osteoporosis in men and women from the Volga-Ural region of Russia was demonstrated. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Somatotropinoma masked by morbid obesity: a case report

Author

Averkina, Anastasia, primary, Guseinova, Raisat, additional, Rafaelyan, Manushak, additional, Vasukova, Olga, additional, Andreeva, Elena, additional, Pigarova, Ekaterina, additional, Azizyan, Vilen, additional, Bondarenko, Ekaterina, additional, Kopytina, Daria, additional, and Mokrysheva, Natalia, additional

Published
2024
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13. scRNA sequencing technology for PitNET studies.

Author

Asaad, Walaa, Utkina, Marina, Shcherbakova, Anastasia, Popov, Sergey, Melnichenko, Galina, and Mokrysheva, Natalia

Subjects
PITUITARY tumors, BENIGN tumors, RNA sequencing, NEUROENDOCRINE tumors, TUMOR microenvironment
Abstract

Pituitary neuroendocrine tumors (PitNETs) are common, most likely benign tumors with complex clinical characteristics related to hormone hypersecretion and/or growing sellar tumor mass. PitNET types are classified according to their expression of specific transcriptional factors (TFs) and hormone secretion levels. Some types show aggressive, invasive, and reoccurrence behavior. Current research is being conducted to understand the molecular mechanisms regulating these high-heterogeneous neoplasms originating from adenohypophysis, and single-cell RNA sequencing (scRNAseq) technology is now playing an essential role in these studies due to its remarkable resolution at the single-cell level. This review describes recent studies on human PitNETs performed with scRNA-seq technology, highlighting the potential of this approach in revealing these tumor pathologies, behavior, and regulatory mechanisms. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Combination approach for CDC73 -related parathyroid carcinoma in an adolescent female patient: a case report and literature review.

Author

Kim, Ekaterina, Kalinchenko, Natalia, Eremkina, Anna, Urusova, Liliya, Salimkhanov, Rustam, and Mokrysheva, Natalia

Abstract

Parathyroid carcinoma (PC) is extremely rare in children and adolescent. PC is more often sporadic, but also it could be associated with germline mutations. The clinical features of primary hyperparathyroidism (PHPT) are nonspecific in children and adolescent, which delays the diagnosis for years. This case of PC in a pediatric patient, caused by germline heterozygous pathogenic variant in exon 1 of the CDC73 gene (c.70 G > T, p. Glu24Ter) is the first to be reported in Russia. Due to the rarity of pediatric parathyroid malignancy, the diagnosis of this endocrine neoplasm remains a challenge. The main difficulties that we faced in the management of the patient were the morphological confirmation of diagnosis, multiple surgical interventions, and disseminated PC metastases. We describe a 13-year-old girl with delayed diagnosis of PC and subsequent local recurrence after several surgeries, who underwent specific radiation therapy that allowed controlling hypercalcemia. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Dynamic Evaluation of Vitamin D Metabolism in Post-Bariatric Patients

Author

Povaliaeva, Alexandra, primary, Zhukov, Artem, additional, Tomilova, Alina, additional, Bondarenko, Axenia, additional, Ovcharov, Maksim, additional, Antsupova, Mariya, additional, Ioutsi, Vitaliy, additional, Shestakova, Ekaterina, additional, Shestakova, Marina, additional, Pigarova, Ekaterina, additional, Rozhinskaya, Liudmila, additional, and Mokrysheva, Natalia, additional

Published
2023
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19. Clinical importance of evaluation of circulating miRNA expression and epicardial adipose tissue thickness as predictors of cardiovascular pathology in young patients with type 1 diabetes mellitus

Author

Vengrzhinovskaya, Oksana I., primary, Bondarenko, Irina Z., additional, Shatskaya, Olga A., additional, Tarbaeva, Natalia V., additional, Korneluk, Anastasya Y., additional, Kalashnikov, Victor Y., additional, Shestakova, Marina V., additional, and Mokrysheva, Natalia G., additional

Published
2023
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24. THU462 Clinical Features & Management Of FGF23 Secreting Tumors: Series Of 40 Clinical Cases

Author

Gronskaia, Sofya, primary, Belaya, Zhanna, additional, Rozhinskaya, Liudmila, additional, Dubovitskaya, Tatiana, additional, Mamedova, Elizaveta, additional, Pigarova, Ekaterina A, additional, Degtyarev, Mikhail, additional, Rodionova, Svetlana, additional, Buklemishev, Yuri, additional, Babaeva, Diana, additional, Vladimirova, Victoriya, additional, Tarbaeva, Natalia, additional, Serzhenko, Sergey, additional, Grigoriev, Andrey, additional, Dzeranova, Larisa, additional, Karpenko, Vadim, additional, Karasev, Anatoly, additional, Fedotov, Roman, additional, Ulyanova, Irina, additional, Trukhina, Diana, additional, Toroptsova, Natalia, additional, Lesnyak, Olga, additional, Mokrysheva, Natalia G, additional, Melnichenko, Galina A, additional, and Dedov, Ivan, additional

Published
2023
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26. Parameters of calcium and phosphate homeostasis in patients with predialysis CKD in response to 150 000 IU cholecalciferol treatment

Author

Zhukov, Artem, primary, Bondarenko, Axenia, additional, Povaliaeva, Alexandra, additional, Zuraeva, Zamira, additional, Trubitsyna, Natalia, additional, Nikankina, Larisa, additional, Shamkhalova, Minara, additional, Pigarova, Ekaterina, additional, Rozhinskaya, Liudmila, additional, and Mokrysheva, Natalia, additional

Published
2023
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28. The Russian registry of primary hyperparathyroidism, latest update

Author

Mokrysheva, Natalia G., primary, Eremkina, Anna K., additional, Elfimova, Alina R., additional, Kovaleva, Elena V., additional, Miliutina, Anastasiia P., additional, Bibik, Ekaterina E., additional, Gorbacheva, Anna M., additional, Dobreva, Ekaterina A., additional, Maganeva, Irina S., additional, Krupinova, Julia A., additional, Salimkhanov, Rustam H., additional, Aboishava, Lizaveta A., additional, Karaseva, Elena V., additional, Melnichenko, Galina A., additional, and Dedov, Ivan I., additional

Published
2023
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29. Genetic and Epigenetic Aspects of Type 1 Diabetes Mellitus: Modern View on the Problem.

Author

Minniakhmetov, Ildar, Yalaev, Bulat, Khusainova, Rita, Bondarenko, Ekaterina, Melnichenko, Galina, Dedov, Ivan, and Mokrysheva, Natalia

Subjects
TYPE 1 diabetes, GENE frequency, EPIGENETICS, GENOME-wide association studies, MOLECULAR pathology, GENETIC markers, MONOGENIC & polygenic inheritance (Genetics)
Abstract

Omics technologies accumulated an enormous amount of data that advanced knowledge about the molecular pathogenesis of type 1 diabetes mellitus and identified a number of fundamental problems focused on the transition to personalized diabetology in the future. Among them, the most significant are the following: (1) clinical and genetic heterogeneity of type 1 diabetes mellitus; (2) the prognostic significance of DNA markers beyond the HLA genes; (3) assessment of the contribution of a large number of DNA markers to the polygenic risk of disease progress; (4) the existence of ethnic population differences in the distribution of frequencies of risk alleles and genotypes; (5) the infancy of epigenetic research into type 1 diabetes mellitus. Disclosure of these issues is one of the priorities of fundamental diabetology and practical healthcare. The purpose of this review is the systemization of the results of modern molecular genetic, transcriptomic, and epigenetic investigations of type 1 diabetes mellitus in general, as well as its individual forms. The paper summarizes data on the role of risk HLA haplotypes and a number of other candidate genes and loci, identified through genome-wide association studies, in the development of this disease and in alterations in T cell signaling. In addition, this review assesses the contribution of differential DNA methylation and the role of microRNAs in the formation of the molecular pathogenesis of type 1 diabetes mellitus, as well as discusses the most currently central trends in the context of early diagnosis of type 1 diabetes mellitus. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Dynamic Evaluation of Vitamin D Metabolism in Post-Bariatric Patients.

Author

Povaliaeva, Alexandra, Zhukov, Artem, Tomilova, Alina, Bondarenko, Axenia, Ovcharov, Maksim, Antsupova, Mariya, Ioutsi, Vitaliy, Shestakova, Ekaterina, Shestakova, Marina, Pigarova, Ekaterina, Rozhinskaya, Liudmila, and Mokrysheva, Natalia

Subjects
VITAMIN D metabolism, FIBROBLAST growth factors, VITAMIN D deficiency, VITAMIN D, PATIENT education, GASTRIC bypass, HAIR analysis
Abstract

Background: findings from the previously conducted studies indicate altered regulatory mechanisms of calcium and vitamin D metabolism in obese patients and a role for bariatric surgery in regulating vitamin D metabolism; however, the available data is controversial and does not provide an adequate understanding of the subject. Methods: we evaluated serum parameters of vitamin D and mineral metabolism (vitamin D metabolites (25(OH)D3, 25(OH)D2, 1,25(OH)2D3, 3-epi-25(OH)D3, and 24,25(OH)2D3), vitamin D-binding protein (DBP), free 25(OH)D, fibroblast growth factor 23 (FGF-23), parathyroid hormone (PTH), total calcium, albumin, phosphorus, creatinine, magnesium) in 30 patients referred for bariatric surgery in comparison with 30 healthy volunteers of similar age, sex and baseline 25(OH)D3. Patients were also followed up with repeated laboratory assessments 3 months and 6 months after surgery. During the first 3 months, patients were prescribed high-dose cholecalciferol therapy (50,000 IU per week), with subsequent correction based on the results of the 3-month visit examination. Results: Preoperatively, patients with morbid obesity were characterized by a high prevalence of vitamin D deficiency (median 25(OH)D3 level 11.9 (6.8; 22.2) ng/mL), significantly lower levels of active vitamin D metabolite 1,25(OH)2D3 (20 (10; 37) vs. 39 (33; 50) pg/mL, p < 0.001), lower serum albumin-adjusted calcium levels (2.24 (2.20; 2.32) vs. 2.31 (2.25; 2.35) mmol/L, p = 0.009) and magnesium levels (0.79 (0.72; 0.82) vs. 0.82 (0.78; 0.85) mmol/L, p = 0.043) with simultaneous similar PTH levels (p = 0.912), and higher DBP levels (328 (288; 401) vs. 248 (217; 284) mg/L, p < 0.001). The 25(OH)D3 levels remained suboptimal (24.5 (14.7; 29.5) ng/mL at the 3-month visit and 17.9 (12.4; 21.0) ng/mL at the 6-month visit, p = 0.052) despite recommended high-dose cholecalciferol supplementation. Patients also demonstrated an increase in 1,25(OH)2D3 levels (38 (31; 52) pg/mL at the 3-month visit and 49 (29; 59) pg/mL at the 6-month visit, p < 0.001) without a change in PTH or calcium levels during the follow-up. Conclusion: our results of a comprehensive laboratory evaluation of vitamin D status and mineral metabolism in patients undergoing bariatric surgery highlight the importance of improving current clinical guidelines, as well as careful monitoring and education of patients. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Patient-derived three-dimensional model of papillary thyroid cancer for personalized medicine and testing of novel therapies

Author

Petrova, Daria, primary, Bastrich, Asya, additional, Abilov, Zaur, additional, Bondarenko, Ekaterina, additional, Urusova, Liliya, additional, Nikiforovich, Petr, additional, Belcevich, Dmitry, additional, Pylina, Svetlana, additional, Eremkina, Anna, additional, Kim, Ekaterina, additional, and Mokrysheva, Natalia, additional

Published
2023
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49. Body composition analysis viaspatially resolved NIR spectroscopy with multifrequency bioimpedance precisionElectronic supplementary information (ESI) available. See DOI: https://doi.org/10.1039/d3ay01901b

Author

Shirshin, Evgeny, Yakimov, Boris, Davydov, Denis, Baev, Alexey, Budylin, Gleb, Fadeev, Nikolay, Urusova, Liliya, Pachuashvili, Nano, Vasyukova, Olga, and Mokrysheva, Natalia

Abstract

Near-infrared spectroscopy (NIRS) is often criticized due to its insufficient accuracy in determining body composition compared to the gold standard methods. In this work, we show that the use of multiple source–detector distances, as well as the simultaneous use of physiological and optical features, can significantly improve the accuracy of determination of fat and lean mass percentage in the human body using NIR spectroscopy. The study performed on the n= 292 cohort revealed the mean absolute errors of 3.5% for fat content and 3.3% for soft lean mass percentage prediction (r= 0.93) using the multifrequency bioimpedance analysis (BIA) as a reference. Hence, NIRS can serve as an independent reliable method for body composition analysis with precision close to that of advanced multifrequency BIA.

Published
2024
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