scholarly journals Molecular genetic features of the diabetes mellitus development and the possibility of precision therapy

2021 ◽  
Vol 23 (5) ◽  
pp. 467-474
Author(s):  
Tatyana Yu. Demidova ◽  
Svetlana G. Zenina

The purpose of this review is to analyze existing data on the molecular genetic features of the development of type 1 and type 2 diabetes mellitus, gestational diabetes and specific types of diabetes (maturity onset of diabetes of the young, neоnatal diabetes) and to assess the possibility of precision therapy.The etiology of diabetes is heterogeneous, and a genetic predisposition plays a significant role in its development. Genetic studies, conducted in the past few decades, allow us to identify a number of genes that directly affect the development of diabetes. The genetic prerequisites indicate high levels of predictability for the occurrence of type 1 diabetes. The only personalized treatment that is known to date for such patients is insulin therapy. For monogenic specific types of diabetes, genetic testing is a diagnostic factor which allows to prescribe adequate therapy. The molecular genetic characteristics of the development of type 2 diabetes and gestational diabetes are very complex and ambiguous, however, the existing rich data will become the basis for future recommendations for the prevention, diagnosis and personalized treatment.

2014 ◽  
Vol 7 (4) ◽  
pp. 174-176 ◽  
Author(s):  
UM Graham ◽  
IE Cooke ◽  
DR McCance

A 30-year old woman at 30 weeks gestation with insulin-controlled gestational diabetes was admitted with nausea and vomiting. Plasma glucose was 3.3 mmol/l with pH 7.23 and raised capillary ketones at 6.1 mmol/l. She was diagnosed with euglycaemic diabetic ketoacidosis. Cardiotocography showed good fetal movement and accelerations. She was given intramuscular betamethasone and started on intravenous dextrose, insulin and 0.9% saline with potassium chloride with resolution of ketosis. Euglycaemic diabetic ketoacidosis has been reported during pregnancy in patients with type 1 and type 2 diabetes. We believe that this is a report of such an occurrence in a patient with gestational diabetes.


Author(s):  
Marlena Pascu ◽  
Ruxandra Miulescu ◽  
C. Ionescu-Tîrgoviste

Fetal Macrosomia in the Diabetic WomanDiabetes mellitus complicates up to 10% of pregnancies, while in Romania the incidence is this under 5%. In most of the cases we are talking about gestational diabetes, while only in 0.1 - 0.3% of the cases, the diabetes was pregestational (mainly Type 1 diabetes and rarely Type 2 diabetes or Mody). The study we conducted concerned the incidence of macrosomia in the general population; in the study we investigated 3,000 pregnant patients who gave birth in the Unit of Obstetrics & Gynecology of ‘Dr Cantacuzino’ Hospital from 13th January 2007 to 30th March 2010. The 7.1% of incidence of diabetes mellitus highlighted by the study which aimed to trace gestational diabetes conducted in 2007-2010 period with the assistance of the ‘Dr Cantacuzino’ Hospital, represents just the tip of the iceberg. The positive diagnosis of gestational diabetes identified not only women who had diabetes mellitus pre-existing the pregnancy, without their being aware of it, but also women with a pathology of carbohydrate metabolism who will in the future run a higher risk of developing type 2 diabetes mellitus.


2018 ◽  
Vol 19 (12) ◽  
pp. 3724
Author(s):  
Wahlberg Jeanette ◽  
Ekman Bertil ◽  
Arnqvist Hans

Of 1324 women diagnosed with gestational diabetes mellitus (GDM) in Sweden, 25% reported >10 years after the delivery that they had developed diabetes mellitus. We assessed the long-term risk of all glucose metabolic abnormalities in a subgroup of these women. Women (n = 51) previously diagnosed with GDM by capillary blood glucose ≥9.0 mmol/L (≈plasma glucose ≥10.0 mmol/L) after a 2 h 75 g oral glucose tolerance test (OGTT) were included. All underwent a clinical and biochemical evaluation, including a second 2 h 75 g OGTT. Individuals with known type 1 diabetes were excluded. At the follow-up, 12/51 (24%) reported previously diagnosed type 2 diabetes. Another four cases were diagnosed after the second OGTT, increasing the prevalence to 16/51 cases (31%). Impaired fasting plasma glucose (IFG) was diagnosed in 13/51 women and impaired glucose tolerance (IGT) in 10/51 women, leaving only 12 women (24%) with normal glucose tolerance. In addition, 2/51 women had high levels of glutamic acid decarboxylase (GAD) antibodies; of these, one woman classified as type 2 diabetes was reclassified as type 1 diabetes, and the second GAD-positive woman was diagnosed with IGT. Of the women diagnosed with GDM by a 2 h 75 g OGTT, a large proportion had impaired glucose metabolism a decade later, including type 1 and type 2 diabetes.


Diabetes Care ◽  
2018 ◽  
Vol 41 (12) ◽  
pp. 2502-2508 ◽  
Author(s):  
Anny H. Xiang ◽  
Xinhui Wang ◽  
Mayra P. Martinez ◽  
Darios Getahun ◽  
Kathleen A. Page ◽  
...  

2021 ◽  
Vol 70 (2) ◽  
pp. 13-26
Author(s):  
Roman V. Kapustin ◽  
Ekaterina V. Kopteyeva ◽  
Tatyana G. Tral ◽  
Gulrukhsor Kh. Tolibova

AIM: The aim of this study was to compare placental morphological features from women with different types of diabetes mellitus considering method of DM correction. MATERIALS AND METHODS: A retrospective, single-center, cohort study was carried out. We analyzed morphological examination results of 3300 placentas, which made uр the following comparison groups: type 1 diabetes mellitus on continuous subcutaneous insulin infusion (n = 60), type 1 diabetes mellitus on multiple subcutaneous insulin injections (n = 446), type 2 diabetes mellitus on diet (n = 95), type 2 diabetes mellitus on insulin therapy (n = 134), gestational diabetes mellitus on diet (n = 1652), gestational diabetes mellitus on insulin therapy (n = 735), preeclampsia (n = 39), and the control group (n = 139). The examined placentas were weighed, with their sizes (two diameters and thickness), cotyledon structure and defects assessed. We determined the umbilical cord junction and external characteristics of extraembryonic membranes. Fragments of the placenta (5 pieces) were fixed in 10% neutral buffered formalin (pH 7.2), processed with the Leica TP1020 tissue processor and embedded in paraffin. Histological sections (3-4 m thick) were prepared and stained with hematoxylin-eosin. Statistical analysis was performed using the SPSS 23.0 and GraphPad Prism 8.0 software. RESULTS: Following characteristics were typical for all types of diabetes mellitus: increased placental mass metrics, chronic placental insufficiency, dissociated villous maturation disorder with prevalent immaturity, as well as involutive-dystrophic and circulatory disorders of varying severity. Placentas from women with type 1 diabetes mellitus had the specific sings: the predominance of intermediate immature villi and stem villi stromal fibrosis. The frequency of placental infarcts and fibrinoid content in the intervillous space were comparable to those in placentas from women with type 2 diabetes mellitus. Inflammatory changes and moderate placental calcification were most consistently associated with type 2 diabetes mellitus, while gestational diabetes mellitus was characterized by soft damages. Placentas with preeclampsia showed higher prevalence of premature villous maturation, compensated placental insufficiency, and fibrinoid depositions in the intervillous and subchorionic spaces. CONCLUSIONS: Understanding relationships between placental histological features and clinical aspects of diabetes mellitus makes it possible not only to clarify the pathophysiological processes occurring in this pathology but also to optimize the algorithm for the rational management of the neonatal period of children from mothers with diabetes mellitus.


PEDIATRICS ◽  
2016 ◽  
Vol 137 (Supplement 3) ◽  
pp. 237A-237A
Author(s):  
Robin S. Feldman ◽  
Michael Falk ◽  
Kathy A. Grako ◽  
Dawn A. Groenke ◽  
Allison Cooke ◽  
...  

Author(s):  
Larisa Dmitrievna Popovich ◽  
Svetlana Valentinovna Svetlichnaya ◽  
Aleksandr Alekseevich Moiseev

Diabetes – a disease in which the effect of the treatment substantially depends on the patient. Known a study showed that the use of glucometers with the technology of three-color display of test results facilitates self-monitoring of blood sugar and leads to a decrease in glycated hemoglobin (HbAlc). Purpose of the study: to modeling the impact of using of a glucometer with a color-coded display on the clinical outcomes of diabetes mellitus and calculating, the potential economic benefits of reducing the hospitalization rate of patients with diabetes. Material and methods. Based on data from two studies (O. Schnell et al. and M. Baxter et al.) simulation of the reduction in the number of complications with the use of a glucometer with a color indication. In a study by O. Schnell et al. a decrease of HbA1c by 0.69 percent is shown when using the considered type of glucometers, which was the basis of the model. Results. In the model, the use of a glucometer with a color-coded display for type 1 diabetes led to a decrease in the total number of complications by 9.2 thousand over 5 years per a cohort of 40 thousand patients with different initial levels of HbA1c. In a cohort of 40 thousand patients with type 2 diabetes, the simulated number of prevented complications was 1.7 thousand over 5 years. When extrapolating these data to all patients with diabetes included in the federal register of diabetes mellitus (FRD), the number of prevented complications was 55.4 thousand cases for type 1 diabetes and 67.1 thousand cases for type 2 diabetes. The possible economic effect from the use of the device by all patients with a diagnosis of diabetes, which are included in the FRD, estimated at 1.5 billion rubles for a cohort of patients with type 1 diabetes and 5.3 billion rubles for patients with type 2 diabetes. Conclusion. Improving the effectiveness of self-monitoring, which is the result of the use of glucometers with color indicators, can potentially significantly reduce the incidence of complications in diabetes and thereby provide significant economic benefits to society.


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