scholarly journals IMMUNOGENETICS OF TYPE 1 DIABETES MELLITUS — FROM FUNDAMENTAL IDEAS TO MEDICAL PRACTICE

2012 ◽  
Vol 67 (1) ◽  
pp. 75-80 ◽  
Author(s):  
L. P. Alekseev ◽  
I. I. Dedov ◽  
R. M. Khaitov ◽  
M. N. Boldyreva ◽  
D. Yu. Trofimov ◽  
...  

The review of studies of Russian researchers on theoretical and practical aspects of genetic predisposition to type 1 diabetes associated with immunity: HLA and not HLA genes. Most important for practical public health outcomes are evidence that HLA-genetic predisposition to type 1 diabetes is associated with the DRB1-genotype, consisting entirely of variants DRB1-genes associated with the development of T1D. It was also established that CTLA4 gene has an independent predictive value for T1D.

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Paweł Jan Stanirowski ◽  
Agata Majewska ◽  
Michał Lipa ◽  
Dorota Bomba-Opoń ◽  
Mirosław Wielgoś

Abstract Background The aim of the study was to evaluate the ultrasound-derived measurements of the fetal soft-tissue, heart, liver and umbilical cord in pregnancies complicated by gestational (GDM) and type 1 diabetes mellitus (T1DM), and further to assess their applicability in the estimation of the fetal birth-weight and prediction of fetal macrosomia. Methods Measurements were obtained from diet-controlled GDM (GDMG1) (n = 40), insulin-controlled GDM (GDMG2) (n = 40), T1DM (n = 24) and healthy control (n = 40) patients. The following parameters were selected for analysis: fetal sub-scapular fat mass (SSFM), abdominal fat mass (AFM), mid-thigh fat/lean mass (MTFM/MTLM) and inter-ventricular septum (IVS) thicknesses, heart and thorax circumference and area (HeC/HeA; ThC/ThA), liver length (LL), umbilical cord/vein/arteries circumference and area (UmC/UmA; UvC/UvA; UaC/UaA) together with total umbilical vessels (UveA) and Wharton's jelly area (WjA). Regression models were created in order to assess the contribution of selected parameters to fetal birth-weight (FBW) and risk of fetal macrosomia. Results Measurements of the fetal SSFM, AFM, MTFM, MTFM/MTLM ratio, HeC, HeA, IVS, LL, UmC, UmA, UaC, UaA, UveA and WjA were significantly increased among patients with GDMG2/T1DM as compared to GDMG1 and/or control groups (p < .05). The regression analysis revealed that maternal height as well as fetal biparietal diameter, abdominal circumference (AC), AFM and LL measurements were independent predictors of the FBW (p < .05). In addition, increase in the fetal AFM, AC and femur length (FL) was associated with a significant risk of fetal macrosomia occurrence (p < .05). The equation developed for the FBW estimation [FBW(g) = − 2254,942 + 17,204 * FL (mm) + 105,531 * AC (cm) + 131,347 * AFM (mm)] provided significantly lower mean absolute percent error than standard formula in the sub-group of women with T1DM (5.7% vs 9.4%, p < .05). Moreover, new equation including AC, FL and AFM parameters yielded sensitivity of 93.8%, specificity 77.7%, positive predictive value 54.5% and negative predictive value of 97.8% in the prediction of fetal macrosomia. Conclusions Ultrasound measurements of the fetal soft tissue, heart, liver and umbilical cord are significantly increased among women with GDM treated with insulin and T1DM. In addition to standard biometric measurements, parameters, such as AFM, may find application in the management of diabetes-complicated pregnancies.


2013 ◽  
Vol 7 (3) ◽  
pp. 646-652 ◽  
Author(s):  
Kimberly A. Driscoll ◽  
Suzanne Bennett Johnson ◽  
John Hogan ◽  
Elizabeth Gill ◽  
Nancy Wright ◽  
...  

2005 ◽  
Vol 39 (2) ◽  
pp. 200-205
Author(s):  
E. V. Zotova ◽  
O. E. Voron’ko ◽  
T. R. Bursa ◽  
I. V. Galeev ◽  
I. A. Strokov ◽  
...  

Author(s):  
Anne Kastelianne França da Silva ◽  
Diego Giuliano Destro Christofaro ◽  
Aline Fernanda Barbosa Bernardo ◽  
Franciele Marques Vanderlei ◽  
Luiz Carlos Marques Vanderlei

1998 ◽  
Vol 47 (3-4) ◽  
pp. 171-176
Author(s):  
M. Krokowski ◽  
M. Abel ◽  
A. Teodorczyk ◽  
A. Szadkowska ◽  
B. Pyrżak ◽  
...  

AbstractType 1 diabetes mellitus (IDDM) results from a chronic process of autoimmune destruction of ß cells of the Langerhans islets. The presence of autoantibodies (ICA, GADA, anti-IA2, IAA) in serum preceds the clinical onset of the disease. Genetic predisposition for IDDM is connected with HLA, CTLA-4 and insulin gene region.The aim of the study was the genetic and immunological analysis of a triplet. One of them developed Type 1 diabetes mellitus. We analysed HLA class II, CTLA-4 and insulin gene polymorphisms in the whole family. Besides, we investigated immunological status of three brothers.All patients present identical genotype for VNTR loci: D1S80, D17S5 and Apo B, as well as for HLA-DRB1, — DQA1, — DQB1, CTLA-4 gene and all studied insulin gene polymorphisms. That proves their monozigosity. The triplet presents strong genetic predisposition for IDDM. The two patients without overt diabetes have increased levels of ICA, GADA, IA2 and IAA.


PLoS ONE ◽  
2016 ◽  
Vol 11 (11) ◽  
pp. e0164977 ◽  
Author(s):  
Anna Rydén ◽  
Elisabeth Sörstadius ◽  
Klas Bergenheim ◽  
Alexandru Romanovschi ◽  
Fredrik Thorén ◽  
...  

2018 ◽  
Vol 62 (4) ◽  
pp. 485-489 ◽  
Author(s):  
Thais Pereira Costa Magalhães ◽  
Rodrigo Bastos Fóscolo ◽  
Aleida Nazareth Soares ◽  
Janice Sepúlveda Reis

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