Research

Open AccessArticle

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

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J. Pers. Med. 2023, 13(2), 172; https://doi.org/10.3390/jpm13020172 - 19 Jan 2023

Viewed by 978

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessArticle

Markers for the Prediction of Probably Sarcopenia in Middle-Aged Individuals

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Yulia G. Samoilova

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Mariia V. Matveeva

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Ekaterina A. Khoroshunova

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Dmitry A. Kudlay

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Oxana A. Oleynik

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Liudmila V. Spirina

J. Pers. Med. 2022, 12(11), 1830; https://doi.org/10.3390/jpm12111830 - 03 Nov 2022

Viewed by 975

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessArticle

Adipokines, Metabolic Hormones and Their Associations with Abdominal Obesity against a Background of Hyper-LDL-C in Young People

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J. Pers. Med. 2022, 12(11), 1823; https://doi.org/10.3390/jpm12111823 - 02 Nov 2022

Viewed by 562

Abstract

Background: The present study was devoted to the search for possible associations between various adipokines/cytokines associated with the secretory activity of visceral adipocytes, elevated blood levels of LDL-C and abdominal obesity in people under 45 years. Methods: A population sample of Novosibirsk residents [...] Read more.

Background: The present study was devoted to the search for possible associations between various adipokines/cytokines associated with the secretory activity of visceral adipocytes, elevated blood levels of LDL-C and abdominal obesity in people under 45 years. Methods: A population sample of Novosibirsk residents (n = 1415) was divided into deciles based on the levels of LDL-C. The study included 158 people, 87 men and 71 women, who had serum LDL-C levels of ≥4.2 mmol/L. Abdominal obesity was found in 50% of people (54% men, 45% women). By multiplex analysis using the human metabolic hormone V3 panel and the human adipokine magnetic bead panel, levels of adipokines and inflammatory markers were determined on a Luminex MAGPIX flow fluorimeter. Results: According to multivariate regression analysis (binary logistic regression), the most significant biomolecules, regardless of other factors, associated with the presence of AO against the background of hyper-LDL-C in young people were leptin (direct association) and lipocalin-2 (reverse association), leptin in young men (direct association), and leptin and TNF-alpha in women (direct association). Conclusions: Thus, in young people under 45 years with the presence of two important, potentially atherogenic risk factors—hyper-LDL-C and abdominal obesity—a complex of adipokines and metabolic hormones were associated with the presence of these diseases. Full article

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

Open AccessArticle

The Profile of Glucose Lowering Therapy in Persons with Type 2 Diabetes Mellitus in an Aging Russian Population

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J. Pers. Med. 2022, 12(10), 1689; https://doi.org/10.3390/jpm12101689 - 10 Oct 2022

Viewed by 731

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessArticle

Risk Factors for Chronic Non-Communicable Diseases and Osteoporotic Fractures in a Middle and Elderly-Aged Population

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J. Pers. Med. 2022, 12(9), 1475; https://doi.org/10.3390/jpm12091475 - 09 Sep 2022

Viewed by 804

Abstract

Aim. To study the associations of risk factors for chronic non-communicable diseases (CNCDs) and osteoporotic fractures (OFs) in a population sampling over 50 years. Materials and Methods. The data of a cross-sectional population-based study obtained in the Russian part of the [...] Read more.

Aim. To study the associations of risk factors for chronic non-communicable diseases (CNCDs) and osteoporotic fractures (OFs) in a population sampling over 50 years. Materials and Methods. The data of a cross-sectional population-based study obtained in the Russian part of the international project HAPIEE (Novosibirsk) are analyzed. The present analysis comprised 7363 men and women aged 50–69 years old. We have assessed the frequency of OFs for the last 12 months and risk factors of CNCDs. Cross-sectional associations between OF history and potential determinants were analyzed using multivariable-adjusted logistic regression. Results. The frequency of OFs in the last 12 months was 3.6% (3.2% in men and 4.0% in women, p = 0.074). In men, the probability of OFs increased with an elevation of blood pressure (BP), high-density lipoprotein cholesterol (HDL-C), ethanol consumption, and reduced with increased body mass index (BMI). In women, the probability of a fracture increased with current smoking and an increased duration of post-menopause and reduced with an increase in triglycerides (TG) levels, independently of other factors. Conclusions. A syndemia of risk factors, both generally recognized for OFs (BMI, tobacco smoking, alcohol consumption, postmenopausal duration) and new factors associated with CNCDs (BP, HDL, TG), have been defined. Full article

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessArticle

Machine Learning Models for Nocturnal Hypoglycemia Prediction in Hospitalized Patients with Type 1 Diabetes

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J. Pers. Med. 2022, 12(8), 1262; https://doi.org/10.3390/jpm12081262 - 31 Jul 2022

Cited by 4 | Viewed by 1295

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

Open AccessArticle

Adipokine Levels in Men with Coronary Atherosclerosis on the Background of Abdominal Obesity

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Evgeniia Vital’evna Striukova

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Victoriya Sergeevna Shramko

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Elena Vladimirovna Kashtanova

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Yana Vladimirovna Polonskaya

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Ekaterina Mikhailovna Stakhneva

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Alexey Vitalievich Kurguzov

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Alexander Mikhailovich Chernyavsky

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Yulia Igorevna Ragino

J. Pers. Med. 2022, 12(8), 1248; https://doi.org/10.3390/jpm12081248 - 29 Jul 2022

Viewed by 685

Abstract

Background. Obesity is associated with dyslipidemia, and excess body fat is associated with unfavorable levels of adipokines and markers of inflammation. The goal of research. To study the level of adipokines and markers of inflammation, their associations with unstable atherosclerotic plaques in men [...] Read more.

Background. Obesity is associated with dyslipidemia, and excess body fat is associated with unfavorable levels of adipokines and markers of inflammation. The goal of research. To study the level of adipokines and markers of inflammation, their associations with unstable atherosclerotic plaques in men with coronary atherosclerosis on the background of abdominal obesity. Materials and methods. The study involved 82 men aged 40–77 years with coronary atherosclerosis after endarterectomy from the coronary arteries. We divided all men into two groups: 37 men (45.1%) with unstable atherosclerotic plaques, and 45 men (54.9%) who had stable plaques. Obesity was established at a BMI of ≥30 kg/m². The levels of adipokines and markers of inflammation in the blood were determined by multiplex analysis. Results. In patients with obesity and unstable plaques, the levels of C-peptide, TNFa and IL-6 were 1.8, 1.6, and 2.8 times higher, respectively, than in patients with obesity and stable plaques. The chance of having an unstable plaque increases with an increase in TNFa by 49% in obese patients and decreases with an increase in insulin by 3% in non-obese patients. Conclusions. In men with coronary atherosclerosis and obesity, unstable atherosclerotic plaques in the coronary arteries are directly associated with the level of TNF-α. Full article

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Review

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Open AccessReview

Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review

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Ahmad Bairqdar

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Dinara Ivanoshchuk

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Elena Shakhtshneider

J. Pers. Med. 2023, 13(3), 460; https://doi.org/10.3390/jpm13030460 - 01 Mar 2023

Viewed by 741

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessReview

Probiotics and Gut Microbiota in Obesity: Myths and Realities of a New Health Revolution

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Xavier Eugenio León Aguilera

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Alexander Manzano

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Daniela Pirela

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Valmore Bermúdez

J. Pers. Med. 2022, 12(8), 1282; https://doi.org/10.3390/jpm12081282 - 04 Aug 2022

Cited by 4 | Viewed by 2151

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessReview

The Impact of Hypoglycemic Therapy on the Prognosis for Acute Coronary Syndrome in Patients with Type 2 Diabetes

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J. Pers. Med. 2022, 12(5), 845; https://doi.org/10.3390/jpm12050845 - 22 May 2022

Viewed by 1179

Abstract

The article discusses particular circumstances of acute coronary syndrome (ACS) in patients with type 2 diabetes (T2D). In addition, the available literature data and clinical guidelines reflecting the role of hypoglycemic therapy as a cardioprotection factor in ACS are analyzed. The article considers [...] Read more.

The article discusses particular circumstances of acute coronary syndrome (ACS) in patients with type 2 diabetes (T2D). In addition, the available literature data and clinical guidelines reflecting the role of hypoglycemic therapy as a cardioprotection factor in ACS are analyzed. The article considers possible protective molecular mechanisms of various groups of drugs in ischemic cardiomyocytes. Full article

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessBrief Report

Diagnostic Accuracy of Methods for Detection of Antibodies against Type I Interferons in Patients with Endocrine Disorders

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J. Pers. Med. 2022, 12(12), 1948; https://doi.org/10.3390/jpm12121948 - 24 Nov 2022

Cited by 1 | Viewed by 724

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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Open AccessSystematic Review

Stomatognathic System Changes in Obese Patients Undergoing Bariatric Surgery: A Systematic Review

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Gerson Fabián Gualdrón-Bobadilla

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Anggie Paola Briceño-Martínez

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Víctor Caicedo-Téllez

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J. Pers. Med. 2022, 12(10), 1541; https://doi.org/10.3390/jpm12101541 - 20 Sep 2022

Viewed by 986

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

(This article belongs to the Special Issue Selected Papers from the 2nd Conference with International Participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine”)

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