Special Issue "Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: 10 December 2020.

Special Issue Editors

Prof. Dr. Mikhail Ivanovich Voevoda

Guest Editor
Department of Human Molecular Genetics, The Federal Research Center Institute of Cytology and Genetics, The Siberian Branch, The Russian Academy of Sciences, Novosibirsk, Russia
Interests: basic problems of internal diseases and in particular studies on the role of hereditary factors in endocrine disorders, as well as the development and improvement of molecular genetic research methods
Prof. Dr. Yuliya I. Ragino
SciProfiles
Guest Editor
Institute of Internal and Preventive Medicine – A branch of the Federal Research Center Institute of Cytology and Genetics, The Siberian Branch, The Russian Academy of Sciences, Novosibirsk, Russia
Interests: key biochemical markers and the pathogenesis of metabolic syndrome and of obesity

Special Issue Information

Dear Colleagues,

You are invited to take part in the all-Russian conference with international participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine,” which will be held in Novosibirsk, 26–27 November 2020. The purpose of this conference is to disseminate the latest basic and clinical findings in the fields of etiology, clinical characteristics, and modern diagnostics and treatments of endocrine disorders among a wide spectrum of specialists. The conference is intended for physician–endocrinologists, primary care physicians, medical geneticists, pediatric endocrinologists, pediatricians, and physician–scientists. The conference will include plenary sessions, specialty sessions, satellite symposia, and an open competition for young scientists.

Main topics:

  • Epidemiology and pathogenesis of endocrine disorders;
  • Genomic research in endocrinology;
  • Biochemical characteristics of endocrine aberrations;
  • Immunology and immunogenetics in endocrinology;
  • Cellular technologies in endocrinology;
  • Metabolomic research in endocrinology;
  • Pharmacogenetics;
  • Basic pathomorphology;
  • High-tech care of patients with endocrine disorders;
  • Iodine-deficiency–related, autoimmune, and oncological diseases of the thyroid;
  • Modern diagnostic and therapeutic strategies for diabetes mellitus;
  • Osteoporosis and osteopenias;
  • Polyendocrinopathies;
  • An interdisciplinary approach to the diagnosis and treatment of obesity and metabolic syndrome;
  • Hypo- and hyperparathyroidism, vitamin D;
  • Neuroendocrine disorders;
  • Reproductive health;
  • Rehabilitation of patients with endocrine disorders;
  • Health resort and spa treatments of endocrine disorders and comorbid conditions.

The present Special Issue will feature the works presented at the conference that promote linkage of personalized medicine. Researchers and academicians are cordially invited to contribute original research papers or reviews in all aspects of precision medicine and personalized therapies to this Special Issue of Journal of Precision Medicine. Both full papers and review articles are very welcome.

Prof. Dr. Mikhail Ivanovich Voevoda
Prof. Dr. Yuliya I. Ragino
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endocrine disorders
  • endocrinology
  • endocrine aberrations
  • pharmacogenetics
  • pathomorphology
  • iodine-deficiency–related, autoimmune, and oncological diseases of the thyroid

Published Papers (5 papers)

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Research

Open AccessArticle
Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young
J. Pers. Med. 2020, 10(3), 100; https://doi.org/10.3390/jpm10030100 - 25 Aug 2020
Abstract
The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in patients with a maturity-onset [...] Read more.
The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in patients with a maturity-onset diabetes of the young (MODY) phenotype, and prevalence of these mutations was estimated in a Russian population, among type 2 diabetes mellitus (T2DM) and MODY patients. Whole-exome sequencing or targeted sequencing was performed on 151 probands with a MODY phenotype, with subsequent association analysis of one of identified variants, rs11544593, in a white population of Western Siberia (276 control subjects and 169 T2DM patients). Thirteen variants were found in APPL1, three of which (rs79282761, rs138485817, and rs11544593) are located in exons. There were no statistically significant differences in the frequencies of rs11544593 alleles and genotypes between T2DM patients and the general population. In the MODY group, AG rs11544593 genotype carriers were significantly more frequent (AG vs. AA + GG: odds ratio 1.83, confidence interval 1.15–2.90, p = 0.011) compared with the control group. An association of rs11544593 with blood glucose concentration was revealed in the MODY group. The genotyping data suggest that rs11544593 may contribute to carbohydrate metabolism disturbances. Full article
Open AccessArticle
The Blood Cytokine Profile of Young People with Early Ischemic Heart Disease Comorbid with Abdominal Obesity
J. Pers. Med. 2020, 10(3), 87; https://doi.org/10.3390/jpm10030087 - 13 Aug 2020
Abstract
Objective: The aim was to study the blood cytokine/chemokine profile of 25–44-year-old people with early ischemic heart disease (IHD) comorbid with abdominal obesity (AO). Methods: A cross-sectional medical examination of subjects in Novosibirsk, Russia, was conducted after random sampling of the above age [...] Read more.
Objective: The aim was to study the blood cytokine/chemokine profile of 25–44-year-old people with early ischemic heart disease (IHD) comorbid with abdominal obesity (AO). Methods: A cross-sectional medical examination of subjects in Novosibirsk, Russia, was conducted after random sampling of the above age group. A total of 1457 subjects, 804 females and 653 males, were analyzed. The epidemiological diagnosis of IHD was made in accordance with 17 validated and functional criteria, employing exercise ECG for confirmation. Simultaneous quantitative analyses of 41 cytokines/chemokines in blood serum were performed by a multiplex assay using the HCYTMAG-60K-PX41 panel (MILLIPLEX MAP) on a Luminex 20 MAGPIX flow cytometer, with additional ELISA testing. Results: Flt3 ligand, GM-CSF, and MCP-1 were significantly associated with the relative risk of early IHD. In the presence of AO, GM-CSF, MCP-1 and IL-4 also significantly correlated with the relative risk of early IHD. By univariate regression analysis, the relative risk of early IHD was associated with lowered blood concentrations of Flt3 ligand, whereas the relative risk of early IHD in the presence of AO was associated with lowered blood concentrations of GM-CSF. Employing multivariable regression analysis, only lower blood levels of Flt3 ligand were associated with a relative risk of early IHD, whereas the relative risk of early IHD in the presence of AO was limited to lower levels of IL-4. Conclusion: Findings related to Flt3 ligand, GM-CSF, and IL-4 are consistent with the international literature. Results from the present study are partly confirmative and partly hypothesis generating. Full article
Open AccessArticle
The Risk of Osteoporotic Forearm Fractures in Postmenopausal Women in a Siberian Population Sample
J. Pers. Med. 2020, 10(3), 77; https://doi.org/10.3390/jpm10030077 - 31 Jul 2020
Abstract
The reduction in bone and muscle mass increases in menopausal women and poses a threat to the loss of self-dependence in the elderly. The aim of the study was to assess the frequency of osteoporotic forearm fractures (OFF) in postmenopausal women [...] Read more.
The reduction in bone and muscle mass increases in menopausal women and poses a threat to the loss of self-dependence in the elderly. The aim of the study was to assess the frequency of osteoporotic forearm fractures (OFF) in postmenopausal women and to study their association with risk factors for chronic non-communicable diseases (NCD). The study was based on the Russian arm of the Health, Alcohol and Psychosocial Factors In Eastern Europe (HAPIEE) project (Novosibirsk). In a subsample of postmenopausal women aged 55–84 years old (n = 2005), we assessed the history of OFF during the last 3 years and risk factors for fracture and common NCD/. Cross-sectional associations between OFF history and potential determinants were analyzed using multivariable-adjusted logistic regression. A history of OFF in the last 3 years was found in 3.9% women. In a multivariable-adjusted model, the risk of OFF was directly associated with smoking in the past (OR = 2.23; 95% Cl 1.10–4.55), total cholesterol level higher than 200 mg/dL (OR = 1.98; 95% Cl 1.19–3.29), and it was inversely associated with body mass index (OR = 0.91; 95% Cl 0.86–0.96). In studied population sample of postmenopausal women the cross-sectional determinants of osteoporotic forearm fractures were smoking in the past and high total cholesterol value; body mass index protectively related to the risk of osteoporotic fractures. These findings might have implications for fracture prevention in postmenopausal women. Full article
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Open AccessArticle
Correlations between Iron Metabolism Parameters, Inflammatory Markers and Lipid Profile Indicators in Patients with Type 1 and Type 2 Diabetes Mellitus
J. Pers. Med. 2020, 10(3), 70; https://doi.org/10.3390/jpm10030070 - 25 Jul 2020
Abstract
This study aims to establish relationships between inflammatory status, ferrokinetics and lipid metabolism in patients with diabetes mellitus. Subclinical inflammation was assessed by levels of high-sensitive C-reactive protein, tumor necrosis factor-α and erythrocyte sedimentation rate. Iron metabolism parameters included complete blood count, serum [...] Read more.
This study aims to establish relationships between inflammatory status, ferrokinetics and lipid metabolism in patients with diabetes mellitus. Subclinical inflammation was assessed by levels of high-sensitive C-reactive protein, tumor necrosis factor-α and erythrocyte sedimentation rate. Iron metabolism parameters included complete blood count, serum iron, transferrin and ferritin. Metabolic status assessment included lipid profile, glycated hemoglobin and microalbuminuria measurement. As a result of the study it was possible to establish both general (universal) and diabetes mellitus (DM) type-dependent relationships between the parameters of lipid profile and metabolic control in DM. High-density lipoprotein cholesterol (HDL-C) levels negatively correlated with microalbuminuria (r = −0.293; p ˂ 0.05 for type 1 diabetes and r = −0.272; p ˂ 0.05 for type 2 diabetes). Ferritin concentration positively correlated with triglyceride level (r = 0.346; p ˂ 0.05 for type 1 diabetes and r = 0.244; p ˂ 0.05 for type 2 diabetes). In type 1 diabetes, a negative correlation was discovered between estimated glomerular filtration rate (eGFR) and LDL-C (r = −0.480; p ˂ 0.05), very low-density-lipoprotein cholesterol (VLDL-C) (r = −0.490; p ˂ 0.05) and triglycerides (r = −0.553; p ˂ 0.05), and a positive one between C-reactive protein concentration and triglyceride level (r = 0.567; p ˂ 0.05). Discovered relationships between lipid profile indices, inflammatory status and microalbuminuria confirmed mutual influence of hyperlipidemia, inflammation and nephropathy in diabetes patients. Obtained results justify the strategy of early hypolipidemic therapy in patients with diabetes mellitus to prevent the development and progression of microvascular complications. Full article
Open AccessArticle
Possible Differential Diagnosis of the Degrees of Rheological Disturbances in Patients with Type 2 Diabetes Mellitus by Dielectrophoresis of Erythrocytes
J. Pers. Med. 2020, 10(3), 60; https://doi.org/10.3390/jpm10030060 - 05 Jul 2020
Abstract
Hemorheological disorders in structural and functional parameters of erythrocytes are involved in the pathological process in type 2 diabetes mellitus (DM). Aim: to investigate the feasibility of differential diagnosis of the degrees of rheological disturbances in patients with type 2 DM by dielectrophoresis [...] Read more.
Hemorheological disorders in structural and functional parameters of erythrocytes are involved in the pathological process in type 2 diabetes mellitus (DM). Aim: to investigate the feasibility of differential diagnosis of the degrees of rheological disturbances in patients with type 2 DM by dielectrophoresis of erythrocytes. Methods: 62 subjects (58.7 ± 1.6 years) with type 2 DM diagnosed according to the criteria of the ADA were subdivided into two groups: medium (n = 47) and high (n = 15) risk of microcirculatory disturbances (EASD, 2013). Electric and viscoelastic parameters of erythrocytes were determined by dielectrophoresis using an electric optical system of cell detection. Results: the progression of rheological disturbances in the patients with type 2 DM was accompanied by significant decreases in deformation amplitude; dipole moment; polarizability; and membrane capacity; and increases in conductivity, viscosity, rigidity, hemolysis, and formation of aggregates (p < 0.05). Combined use of the parameters increased sensitivity (97.8%) and specificity (86.7%) for diagnosis of rheological disturbances in type 2 DM. Conclusion: the proposed experimental approach possesses low invasiveness, high productivity, shorter duration, vividness of the results. The method allows to evaluate not only local (renal and ocular) but also systemic status of microcirculation using more than 20 parameters of erythrocytes. Full article
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