Selected Papers from the 2nd Conference with International Participation “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). This special issue belongs to the section "Personalized Therapy and Drug Delivery".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 22114

Special Issue Editors


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Guest Editor
Institute of Internal and Preventive Medicine–Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630089 Novosibirsk, Russia
Interests: key biochemical markers; the pathogenesis of metabolic syndrome and obesity
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Guest Editor
The Institute of Internal and Preventive Medicine, Branch of the Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, St. B. Bogatkova 175/1, 630089 Novosibirsk, Russia
Interests: endocrinology diseases; diabetes mellitus; thyroidology; personalized medicine

Special Issue Information

Dear Colleagues,

The worldwide prevalence of endocrine pathology and associated diseases is growing on an epidemic scale. Early detection of endocrine disorders requires modern molecular genetic, biochemical, and pathophysiological techniques which enable a personalized approach to the choice of treatment.

This Special Issue is aligned with the second 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 (Russian Federation), 24–25 November 2022.

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.

For this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

  • Genomic research in endocrinology;
  • Biochemical characteristics of endocrine aberrations;
  • Cellular technologies in endocrinology;
  • Metabolomic research in endocrinology;
  • 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.

We look forward to receiving your contributions.

Prof. Dr. Yuliya I. Ragino
Dr. Oksana D. Rymar
Guest Editors

Manuscript Submission Information

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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 monthly 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 2600 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

  • endocrinology
  • genomic research in endocrinology
  • biochemical research in endocrinology
  • cellular technologies in endocrinology
  • metabolomic research in endocrinology
  • high-tech care of patients with endocrine disorders

Published Papers (10 papers)

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Research

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14 pages, 4008 KiB  
Article
Nocturnal Glucose Patterns with and without Hypoglycemia in People with Type 1 Diabetes Managed with Multiple Daily Insulin Injections
by Danil E. Kladov, Vladimir B. Berikov, Julia F. Semenova and Vadim V. Klimontov
J. Pers. Med. 2023, 13(10), 1454; https://doi.org/10.3390/jpm13101454 - 29 Sep 2023
Cited by 2 | Viewed by 1093
Abstract
Nocturnal hypoglycemia (NH) is a potentially dangerous and underestimated complication of insulin therapy. In this study, we aimed to determine which patterns of nocturnal glucose profiles are associated with NH in patients with type 1 diabetes (T1D) managed with multiple daily insulin injections. [...] Read more.
Nocturnal hypoglycemia (NH) is a potentially dangerous and underestimated complication of insulin therapy. In this study, we aimed to determine which patterns of nocturnal glucose profiles are associated with NH in patients with type 1 diabetes (T1D) managed with multiple daily insulin injections. A dataset of continuous glucose monitoring (CGM) recordings obtained from 395 adult subjects with T1D was used for modeling. The clustering of CGM data was performed using a hierarchical clustering algorithm. Ten clusters without hypoglycemia and six clusters with NH episode(s) were identified. The differences among the clusters included initial and final glucose levels, glucose change during the night, and the presence of uptrends or downtrends. Post-midnight hyperglycemia was revealed in 5 out of 10 clusters without NH; in patterns with downtrends, initially elevated glucose prevented NH episodes. In clusters with initially near-normal glucose levels and downtrends, most episodes of NH were observed from midnight to 4 a.m.; if glucose was initially elevated, the episodes occurred at 2–4 a.m. or 4–6 a.m., depending on the time of the start of the downtrend. The results demonstrate the diversity of nocturnal glucose profiles in patients with T1D, which highlights the need for a differentiated approach to therapy adjustment. Full article
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10 pages, 514 KiB  
Article
Triglycerides, Obesity and Education Status Are Associated with the Risk of Developing Type 2 Diabetes in Young Adults, Cohort Study
by Evgeniia V. Garbuzova, Lilia V. Shcherbakova, Oksana D. Rymar, Alyona D. Khudiakova, Victoria S. Shramko and Yulia I. Ragino
J. Pers. Med. 2023, 13(9), 1403; https://doi.org/10.3390/jpm13091403 - 19 Sep 2023
Cited by 1 | Viewed by 958
Abstract
Background: It is important to determine the influence of traditional risk factors on the development of type 2 diabetes mellitus (T2DM) in young adults. Goal of the research: To study the incidence of T2DM and factors that increase the risk of its occurrence [...] Read more.
Background: It is important to determine the influence of traditional risk factors on the development of type 2 diabetes mellitus (T2DM) in young adults. Goal of the research: To study the incidence of T2DM and factors that increase the risk of its occurrence during the observation of a cohort of young adults. Materials and methods: 1341 people aged 25–44 were included in the study from 2013 to 2017, of whom 622 were men (46.4%). The examination included anamnesis, anthropometric data, and a blood test. Cases of developed T2DM were identified by comparing the Diabetes Mellitus Register, medical records of patients, and the database of examined individuals from 2019 to 2023. T2DM Results: In the examined population, 11 participants (0.82%) developed T2DM. The prevalence of T2DM was 0.96% in men and 0.69% in women. Patients with T2DM had a higher waist circumference, BMI, SBP, TG, and lower HDL than patients without T2DM, and were also less likely to have a higher education. The risk of developing T2DM increases 6.5 times at a BMI of ≥30 kg/m2, and 5.2 times at a TG level of ≥1.7 mmol/L, regardless of other risk factors. In the absence of a higher education, the risk of developing T2DM is increased by 5.6 times. Conclusion: In young people, high triglyceride levels, obesity, and a low level of education are associated with the risk of developing type 2 diabetes, regardless of other factors. Full article
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11 pages, 798 KiB  
Article
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia
by Dinara Ivanoshchuk, Elena Shakhtshneider, Svetlana Mikhailova, Alla Ovsyannikova, Oksana Rymar, Emil Valeeva, Pavel Orlov and Mikhail Voevoda
J. Pers. Med. 2023, 13(2), 172; https://doi.org/10.3390/jpm13020172 - 19 Jan 2023
Cited by 1 | Viewed by 1931
Abstract
During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes mellitus, including maturity-onset diabetes of the young (MODY)). [...] Read more.
During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes mellitus, including maturity-onset diabetes of the young (MODY)). The MODY phenotype is associated with gene mutations leading to pancreatic-β-cell dysfunction. Using next-generation sequencing technology, targeted sequencing of coding regions and adjacent splicing sites of MODY-associated genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, ABCC8, and APPL1) was carried out in 285 probands. Previously reported missense variants c.970G>A (p.Val324Met) and c.1562G>A (p.Arg521Gln) in the ABCC8 gene were found once each in different probands. Variant c.1562G>A (p.Arg521Gln) in ABCC8 was detected in a compound heterozygous state with a pathogenic variant of the HNF1A gene in a diabetes patient and his mother. Novel frameshift mutation c.4609_4610insC (p.His1537ProfsTer22) in this gene was found in one patient. All these variants were detected in available family members of the patients and cosegregated with diabetes mellitus. Thus, next-generation sequencing of MODY-associated genes is an important step in the diagnosis of rare MODY subtypes. Full article
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11 pages, 602 KiB  
Article
Markers for the Prediction of Probably Sarcopenia in Middle-Aged Individuals
by Yulia G. Samoilova, Mariia V. Matveeva, Ekaterina A. Khoroshunova, Dmitry A. Kudlay, Oxana A. Oleynik and Liudmila V. Spirina
J. Pers. Med. 2022, 12(11), 1830; https://doi.org/10.3390/jpm12111830 - 3 Nov 2022
Cited by 3 | Viewed by 2093
Abstract
Sarcopenia is a condition that is characterized by a progressive loss of muscle mass, strength, and function, resulting in reduced quality of life. The aim of the study was to analyze the significance of pro-inflammatory markers in the prognostic diagnosis of sarcopenia. The [...] Read more.
Sarcopenia is a condition that is characterized by a progressive loss of muscle mass, strength, and function, resulting in reduced quality of life. The aim of the study was to analyze the significance of pro-inflammatory markers in the prognostic diagnosis of sarcopenia. The participants were divided into two groups: the main group of 146 people and the control—75 people. The complex of examinations included neuropsychological testing (Hospital Anxiety and Depression Scale (HADS), quality-of-life questionnaire for patients with sarcopenia (SarQoL), and short health assessment form (MOS SF-36)), a 6 m walking speed test, manual dynamometry, bioimpedancemetry, and metabolic markers (nitrates, fibroblast growth factor 21, and malondialdehyde). When analyzing metabolic markers in the main group, a twofold increase in nitrates in the main group was recorded in a subsequent analysis adjusted for multiple variables, there was a negative association between the nitrate levels for weak grip strength and appendicular muscle mass. An additional analysis revealed that the complaint of pain in the lower extremities was more frequent in patients of the main group, as well as constipation and the pathology of thyroid gland, and they were more frequently diagnosed with arterial hypertension. At the same time, patients from the main group more frequently took vitamin D. When conducting body composition, the main group recorded a higher weight visceral fat content, as well as a decrease in appendicular and skeletal muscle mass; these changes were accompanied by a decrease in protein and minerals. Among the markers that differed significantly were nitrates, and it was this that was associated with decreased muscle strength and appendicular mass, which may indicate both a possible mechanism and a possible predictive marker. The results of this study can be used to develop a screening method for diagnosing sarcopenia at the outpatient stage. Full article
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13 pages, 2912 KiB  
Article
The Profile of Glucose Lowering Therapy in Persons with Type 2 Diabetes Mellitus in an Aging Russian Population
by Sofia Malyutina, Elena Mazurenko, Ekaterina Mazdorova, Marina Shapkina, Ekaterina Avdeeva, Svetlana Mustafina, Galina Simonova and Andrey Ryabikov
J. Pers. Med. 2022, 12(10), 1689; https://doi.org/10.3390/jpm12101689 - 10 Oct 2022
Cited by 1 | Viewed by 1364
Abstract
We aimed to analyze the profile of glucose lowering therapy (GLT) in persons with diabetes mellitus type 2 (DM2) in an aging Russian population. A random population sample (n = 3898, men/women, 55–84) was examined in Novosibirsk, during 2015–2018 (HAPIEE Project). The [...] Read more.
We aimed to analyze the profile of glucose lowering therapy (GLT) in persons with diabetes mellitus type 2 (DM2) in an aging Russian population. A random population sample (n = 3898, men/women, 55–84) was examined in Novosibirsk, during 2015–2018 (HAPIEE Project). The design of the present work is a cross-sectional study. DM2 was defined in those with a history of DM2 receiving GLT, or at a level of fasting plasma glucose (FPG) ≥7.0 mmol/L. The entire DM2 group was included in the analysis (n = 803); of these, 476 persons were taking GLT and were included in the analysis at stage 2. Regular GLT medication intake for 12 months was coded with ATC. In studied sample, the prevalence of DM2 was 20.8%. Among subjects with DM2, 59% of individuals received GLT, 32% did not. Glycemic control (FPG < 7.0 mmol/L) was achieved in every fifth participant with DM2 (35% in those receiving GLT). In frequency of GLT use, biguanides ranked in first place (75%), sulfonylurea derivatives in second (35%), insulins in third (12%), and iDPP-4 in fourth (5%). Among those receiving GLT, 24% used combined oral therapy, and 6% used insulin-combined therapy. In conclusion, in a population sample aged 55–84 examined in 2015–2018, glycemic control was achieved in every fifth participant with DM2, and in every third participant receiving GLT. The proportion of participants using new GLT drugs was small, and there was a lack of HbA1c monitoring for intensive glycemic control. Full article
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11 pages, 289 KiB  
Article
Machine Learning Models for Nocturnal Hypoglycemia Prediction in Hospitalized Patients with Type 1 Diabetes
by Vladimir B. Berikov, Olga A. Kutnenko, Julia F. Semenova and Vadim V. Klimontov
J. Pers. Med. 2022, 12(8), 1262; https://doi.org/10.3390/jpm12081262 - 31 Jul 2022
Cited by 8 | Viewed by 2443
Abstract
Nocturnal hypoglycemia (NH) is a dangerous complication of insulin therapy that often goes undetected. In this study, we aimed to generate machine learning (ML)-based models for short-term NH prediction in hospitalized patients with type 1 diabetes (T1D). The models were trained on continuous [...] Read more.
Nocturnal hypoglycemia (NH) is a dangerous complication of insulin therapy that often goes undetected. In this study, we aimed to generate machine learning (ML)-based models for short-term NH prediction in hospitalized patients with type 1 diabetes (T1D). The models were trained on continuous glucose monitoring (CGM) data obtained from 406 adult patients admitted to a tertiary referral hospital. Eight CGM-derived metrics of glycemic control and glucose variability were included in the models. Combinations of CGM and clinical data (23 parameters) were also assessed. Random Forest (RF), Logistic Linear Regression with Lasso regularization, and Artificial Neuron Networks algorithms were applied. In our models, RF provided the best prediction accuracy with 15 min and 30 min prediction horizons. The addition of clinical parameters slightly improved the prediction accuracy of most models, whereas oversampling and undersampling procedures did not have significant effects. The areas under the curve of the best models based on CGM and clinical data with 15 min and 30 min prediction horizons were 0.97 and 0.942, respectively. Basal insulin dose, diabetes duration, proteinuria, and HbA1c were the most important clinical predictors of NH assessed by RF. In conclusion, ML is a promising approach to personalized prediction of NH in hospitalized patients with T1D. Full article

Review

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19 pages, 853 KiB  
Review
Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review
by Ahmad Bairqdar, Dinara Ivanoshchuk and Elena Shakhtshneider
J. Pers. Med. 2023, 13(3), 460; https://doi.org/10.3390/jpm13030460 - 1 Mar 2023
Cited by 1 | Viewed by 2065
Abstract
The high prevalence of obesity and of its associated diseases is a major problem worldwide. Genetic predisposition and the influence of environmental factors contribute to the development of obesity. Changes in the structure and functional activity of genes encoding adipocytokines are involved in [...] Read more.
The high prevalence of obesity and of its associated diseases is a major problem worldwide. Genetic predisposition and the influence of environmental factors contribute to the development of obesity. Changes in the structure and functional activity of genes encoding adipocytokines are involved in the predisposition to weight gain and obesity. In this review, variants in genes associated with adipocyte function are examined, as are variants in genes associated with metabolic aberrations and the accompanying disorders in visceral obesity. Full article
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12 pages, 1428 KiB  
Review
Probiotics and Gut Microbiota in Obesity: Myths and Realities of a New Health Revolution
by Xavier Eugenio León Aguilera, Alexander Manzano, Daniela Pirela and Valmore Bermúdez
J. Pers. Med. 2022, 12(8), 1282; https://doi.org/10.3390/jpm12081282 - 4 Aug 2022
Cited by 11 | Viewed by 5261
Abstract
Obesity and its comorbidities are humans’ most prevalent cardio-metabolic diseases worldwide. Recent evidence has shown that chronic low-grade inflammation is a common feature in all highly prevalent chronic degenerative diseases. In this sense, the gut microbiota is a complete ecosystem involved in different [...] Read more.
Obesity and its comorbidities are humans’ most prevalent cardio-metabolic diseases worldwide. Recent evidence has shown that chronic low-grade inflammation is a common feature in all highly prevalent chronic degenerative diseases. In this sense, the gut microbiota is a complete ecosystem involved in different processes like vitamin synthesis, metabolism regulation, and both appetite and immune system control. Thus, dysbiosis has been recognised as one of the many factors associated with obesity due to a predominance of Firmicutes, a decrease in Bifidobacterium in the gut, and a consequent short-chain fatty acids (SCFA) synthesis reduction leading to a reduction in incretins action and intestinal permeability increase. In this context, bacteria, bacterial endotoxins, and toxic bacterial by-products are translocated to the bloodstream, leading to systemic inflammation. This review focuses on gut microbiota composition and its role in obesity, as well as probiotics and prebiotics benefits in obesity. Full article
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Other

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10 pages, 582 KiB  
Brief Report
Diagnostic Accuracy of Methods for Detection of Antibodies against Type I Interferons in Patients with Endocrine Disorders
by Nurana Nuralieva, Marina Yukina, Leila Sozaeva, Maxim Donnikov, Liudmila Kovalenko, Ekaterina Troshina, Elizaveta Orlova, Dmitry Gryadunov, Elena Savvateeva and Ivan Dedov
J. Pers. Med. 2022, 12(12), 1948; https://doi.org/10.3390/jpm12121948 - 24 Nov 2022
Cited by 2 | Viewed by 1424
Abstract
Autoantibodies against type 1 interferons (IFN-I) are a highly specific marker for type 1 autoimmune polyglandular syndrome (APS-1). Moreover, determination of antibodies to omega-interferon (IFN-ω) and alpha2-interferon (IFN-α2) allows a short-term diagnosis in patients with isolated and atypical forms of APS-1. In this [...] Read more.
Autoantibodies against type 1 interferons (IFN-I) are a highly specific marker for type 1 autoimmune polyglandular syndrome (APS-1). Moreover, determination of antibodies to omega-interferon (IFN-ω) and alpha2-interferon (IFN-α2) allows a short-term diagnosis in patients with isolated and atypical forms of APS-1. In this study, a comparison of three different methods, namely multiplex microarray-based, cell-based and enzyme-linked immunosorbent assays for detection of antibodies against omega-interferon and alpha2-interferon, was carried out. A total of 206 serum samples from adult patients with APS-1, APS-2, isolated autoimmune endocrine pathologies or non-autoimmune endocrine disorders, and healthy individuals were analyzed. In the APS-1 patient cohort (n = 18), there was good agreement between the results of anti-IFN-I antibody tests performed by three methods, with 100% specificity and sensitivity for microarray-based assay. Although only the cell-based assay can determine the neutralizing activity of autoantibodies, the microarray-based assay can serve as a highly specific and sensitive screening test to identify anti-IFN-I antibody positive patients. Full article
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24 pages, 754 KiB  
Systematic Review
Stomatognathic System Changes in Obese Patients Undergoing Bariatric Surgery: A Systematic Review
by Gerson Fabián Gualdrón-Bobadilla, Anggie Paola Briceño-Martínez, Víctor Caicedo-Téllez, Ginna Pérez-Reyes, Carlos Silva-Paredes, Rina Ortiz-Benavides, Mary Carlota Bernal, Diego Rivera-Porras and Valmore Bermúdez
J. Pers. Med. 2022, 12(10), 1541; https://doi.org/10.3390/jpm12101541 - 20 Sep 2022
Cited by 2 | Viewed by 2239
Abstract
Background: Obesity is a multifactorial chronic disease involving multiple organs, devices, and systems involving important changes in the stomatognathic system, such as in the orofacial muscles, temporomandibular joint, cheeks, nose, jaw, maxilla, oral cavity, lips, teeth, tongue, hard/soft palate, larynx, and pharynx. Patients [...] Read more.
Background: Obesity is a multifactorial chronic disease involving multiple organs, devices, and systems involving important changes in the stomatognathic system, such as in the orofacial muscles, temporomandibular joint, cheeks, nose, jaw, maxilla, oral cavity, lips, teeth, tongue, hard/soft palate, larynx, and pharynx. Patients with obesity indicated for bariatric surgery reportedly presented with abnormalities in the structures and function of the stomatognathic apparatus. This occurs through the accumulation of adipose tissue in the oral cavity and pharyngeal and laryngeal regions. Therefore, this systematic review aimed to elucidate the changes occurring in the stomatognathic system of patients with obesity after undergoing bariatric surgery. Method: Information was searched based on the equations developed with the descriptors obtained in DECS and MESH using the PRISMA methodology. Studies published between 2010 and October 2021 in databases including PubMed, ProQuest, Scielo, Dialnet, EBSCO, and Springer Link were considered. Results: Eighty articles met the inclusion criteria after evaluating the articles, thereby allowing for the determination of the morphophysiological correlation of the stomatognathic system with the population studied. At the morphological or structural level, changes were observed in the face, nose, cheeks, maxilla, jaw, lips, oral cavity, teeth, tongue, palate, temporomandibular joint, neck, muscles, head, shoulders, larynx, and pharynx. At the morphological level, the main changes occurred in, and the most information was obtained from, the labial structures, teeth, muscles, pharynx, and larynx. Physiological changes were in breathing, phonation, chewing, and swallowing, thereby revealing the imbalance in basic and vital functions. Conclusions: Analyzing the changes and structures of obese patients and candidates for bariatric surgery revealed that, in the preoperative period, the evidence is clear owing to the presence of a wide range of information. However, the information is more limited regarding the postoperative period; thus, further research focusing on characterization of the system postoperatively is warranted. Full article
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