scholarly journals The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Matias Fabregat ◽  
Mariana Fernandez ◽  
Gerardo Javiel ◽  
Graciela Vitarella ◽  
Adriana Mimbacas

The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified. We have previously shown that it is possible to differentiate “atypical diabetic patients” based on genotyping the HLA. In this work we show that the analysis of non-HLA related to type 1 diabetes in theINS-VNTR, SNP rs689, and rs3842753 improves the identification of these patients. We genotyped 913 individuals comprising controls from the general population and “classic” and “atypical” diabetic patients. We compared the distribution of these loci and analyzed linkage disequilibrium. The haplotype was in LD for all the SNPs that were evaluated. Regarding their association with the disease, the haplotype IAC was associated with type 1 (odds 2.60, 1.82–3.72, CI 95%) and “atypical diabetes” (odds 1.50, 1.01–2.23, CI 95%), whereas we did not observe an association with type 2 diabetes. Therefore, our results confirm that atypical diabetes is a different entity of the disease where the patient presents with a genetic background of T1D and a T2D phenotype, findings that are likely to be relevant for patient diagnosis and management in the clinic.

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Peter Bramlage ◽  
Stefanie Lanzinger ◽  
Sascha R. Tittel ◽  
Eva Hess ◽  
Simon Fahrner ◽  
...  

Abstract Background Recent European Society of Cardiology (ESC)/European Association for the Study of Diabetes (EASD) guidelines provide recommendations for detecting and treating chronic kidney disease (CKD) in diabetic patients. We compared clinical practice with guidelines to determine areas for improvement. Methods German database analysis of 675,628 patients with type 1 or type 2 diabetes, with 134,395 included in this analysis. Data were compared with ESC/EASD recommendations. Results This analysis included 17,649 and 116,747 patients with type 1 and type 2 diabetes, respectively. The analysis showed that 44.1 and 49.1 % patients with type 1 and type 2 diabetes, respectively, were annually screened for CKD. Despite anti-diabetic treatment, only 27.2 % patients with type 1 and 43.5 % patients with type 2 achieved a target HbA1c of < 7.0 %. Use of sodium-glucose transport protein 2 inhibitors (1.5 % type 1/8.7 % type 2 diabetes) and glucagon-like peptide-1 receptor agonists (0.6 % type 1/5.2 % type 2 diabetes) was limited. Hypertension was controlled according to guidelines in 41.1 and 67.7 % patients aged 18–65 years with type 1 and 2 diabetes, respectively, (62.4 vs. 68.4 % in patients > 65 years). Renin angiotensin aldosterone inhibitors were used in 24.0 and 40.9 % patients with type 1 diabetes (micro- vs. macroalbuminuria) and 39.9 and 47.7 %, respectively, in type 2 diabetes. Conclusions Data indicate there is room for improvement in caring for diabetic patients with respect to renal disease diagnosis and treatment. While specific and potentially clinically justified reasons for non-compliance exist, the data may serve well for a critical appraisal of clinical practice decisions.


2012 ◽  
Vol 19 (3) ◽  
pp. 285-290
Author(s):  
Denisa Kovacs ◽  
Luiza Demian ◽  
Aurel Babeş

Abstract Objectives: The aim of the study was to calculate the prevalence rates and risk ofappearance of cutaneous lesions in diabetic patients with both type-1 and type-2diabetes. Material and Method: 384 patients were analysed, of which 47 had type-1diabetes (T1DM), 140 had type-2 diabetes (T2DM) and 197 were non-diabeticcontrols. Results: The prevalence of the skin lesions considered markers of diabeteswas 57.75% in diabetics, in comparison to 8.12% in non-diabetics (p<0.01). The riskof skin lesion appearance is over 7 times higher in diabetic patients than in nondiabetics.In type-1 diabetes the prevalence of skin lesions was significantly higherthan in type-2 diabetes, and the risk of skin lesion appearance is almost 1.5 timeshigher in type-1 diabetes than type-2 diabetes compared to non-diabetic controls.Conclusions: The diabetic patients are more susceptible than non-diabetics todevelop specific skin diseases. Patients with type-1 diabetes are more affected.


2007 ◽  
Vol 33 (1) ◽  
pp. 37-43 ◽  
Author(s):  
S. Hadjadj ◽  
F. Duengler ◽  
F. Torremocha ◽  
G. Faure-Gerard ◽  
F. Bridoux ◽  
...  

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Meriem Fassatoui ◽  
Mireia Lopez-Siles ◽  
Diana A. Díaz-Rizzolo ◽  
Haifa Jmel ◽  
Chokri Naouali ◽  
...  

Abstract Gut microbiota plays an important role in the regulation of the immune system and host’s metabolism. We aimed to characterize the gut microbiota of Tunisian participants with and without diabetes. We enrolled ten participants with type 1 diabetes mellitus (T1DM), ten patients with type 2 diabetes mellitus (T2DM), and 11 subjects without diabetes. Bacteria was quantified in fecal samples by quantitative PCR (qPCR). Statistical tests and multivariate analysis were performed using RStudio program. Results showed that the proportions of Firmicutes, Akkermansia muciniphila, and Faecalibacterium prausnitzii (P≤0.041), as well as, the ratio Firmicutes/Bacteroidetes decreased in participants with T1DM compared with those without diabetes (p = 0.036). Participants with T2DM presented a reduction in the amounts of A. muciniphila and F. prausnitzii compared with those without diabetes (P≤0.036). Furthermore, A muciniphila is negatively correlated with glucose level (P=0.022) and glycated hemoglobin (HbA1c) (P=0.035). Multivariate analysis revealed that participants with diabetes formed a cluster apart compared with those without diabetes. In conclusion the gut bacteria of Tunisian participants with diabetes was altered. The gut bacterial profile, especially the distribution of A muciniphila in participants with diabetes was affected by glycemic dysregulation. The investigation of the gut microbiota may help clinicians to improve diagnosis and treatment of diabetes and its complications.


2004 ◽  
Vol 52 (6) ◽  
pp. 375-378 ◽  
Author(s):  
Guenther Boden

Reviewed are data on gluconeogenesis (GNG) and glycogenolysis (GL) obtained in healthy volunteers and diabetic patients with newer, quantitative methods. Specifically addressed are effects of overnight and prolonged fasting, of acute changes in serum insulin and plasma free fatty acid (FFA) levels, as well as acute changes of combined FFA and insulin levels on GNG and GL in nondiabetic subjects and of abnormalities in GNG and GL in patients with type 1 and type 2 diabetes.


2000 ◽  
Vol 85 (9) ◽  
pp. 3348-3351
Author(s):  
Hiroshi Obayashi ◽  
Goji Hasegawa ◽  
Michiaki Fukui ◽  
Kenji Kamiuchi ◽  
Akane Kitamura ◽  
...  

Abstract Recently, several studies have demonstrated that tumor necrosis factor microsatellite polymorphism (TNFa) contributes to the susceptibility of type 1 diabetes. This study investigates the influence of TNFa on the predisposition to insulin dependency in adult-onset diabetic patients with type 1 diabetes-protective human leukocyte antigen haplotypes. The TNFa of three groups of DRB1∗1502-DQB1∗0601-positive diabetic patients who had initially been nonketotic and noninsulin dependent for more than 1 yr was analyzed. Group A included 11 antibodies to glutamic acid decarboxylase (GADab)-positive patients who developed insulin dependency within 4 yr of diabetes onset. Group B included 11 GADab-positive patients who remained noninsulin dependent for more than 12 yr. Group C included 12 GADab-negative type 2 diabetes, and a control group included 18 nondiabetic subjects. In the group C and control subjects, DRB1∗1502-DQB1∗0601 was strongly associated with the TNFa13 allele. DRB1∗1502-DQB1∗0601 was strongly associated with the TNFa12 allele among the group A patients, but not among the group B patients. Interestingly, sera from all patients with non-TNFa12 and non-TNFa13 in group B reacted with GAD65 protein by Western blot. These results suggest that TNFa is associated with a predisposition to progression to insulin dependency in GADab/DRB1∗1502-DQB1∗0601-positive diabetic patients initially diagnosed with type 2 diabetes and that determination of these patients’ TNFa genotype may allow for better prediction of their clinical course.


Author(s):  
Leila Zarei ◽  
Payam Peymani ◽  
Najmeh Moradi ◽  
Mehrnaz Kheirandish ◽  
Mahtabalsadat Mirjalili ◽  
...  

Background: Diabetes imposes an enormous burden on patients, families, societies, and healthcare systems. Determining the affordability of medications is an important complicated and vague task, especially in low- and middle-income countries (LMICs). This study aimed to assess the affordability of diabetes medication therapy in Iran’s health system. Methods: This paper presents a scenario-based assessment of the affordability of all registered anti-diabetes medications in Iran in 2017. To this end, 4 medication therapy scenarios were defined as mono, dual, triple, and insulin therapy in accordance with the existing guidelines and clinicians’ opinions. Then the affordability ratio of each treatment scenario was determined for type 1 and type 2 diabetes drawing on the World Health Organization (WHO)/Health Action International (HAI) Methodology. If the affordability ratio for treatment schedules was more than 1, the patients’ out-of-pocket (OOP) expenses exceeded the lowest-paid unskilled government worker (LPGW)’ wage per day, and the treatment was labelled as non-affordable. Results: The results revealed that the mono, dual, and triple (non-insulin) medication therapies in type 2 diabetes were affordable, despite an increase in the dosage or a switch from the monotherapy to the combination therapy of oral medications. However, some treatment scenarios in the triple therapy, including oral plus insulin and some insulin only therapies, were proved to be non-affordable. In type 1 diabetes, only insulin glulisine, detemir, and lispro were non-affordable in monotherapy. Regarding the combination therapy, only isophane insulin with aspart or regular insulin were affordable treatments. Conclusion: Although oral medication therapies were documented to be affordable, insulin therapy, with current coverage conditions, for patients with lowest paid wages and those receiving even less is unaffordable and a major barrier to treatment; hence, policy-maker should consider targeting and more financial protection policies to improve the affordability of insulin therapies among this group of patients.


2010 ◽  
Author(s):  
Samuel Dagogo-Jack

The long-term complications of diabetes mellitus include retinopathy, nephropathy, and neuropathy. Diabetic retinopathy can result in loss of vision; nephropathy may lead to end-stage kidney disease (ESKD); and neuropathy poses the risk of foot ulcers, amputation, Charcot joints, sexual dysfunction, and potentially disabling dysfunction of the stomach, bowel, and bladder. Hyperglycemia sufficient to cause pathologic and functional changes in target tissues may be present for some time before clinical symptoms lead to a diagnosis of diabetes, especially in patients with type 2 diabetes. Diabetic patients are also at increased risk for atherosclerotic cardiovascular, peripheral vascular, and cerebrovascular disease. These conditions may be related to hyperglycemia, as well as to the hypertension and abnormal lipoprotein profiles that are often found in diabetic patients. Prevention of these complications is a major goal of current therapeutic policy and recommendations for all but transient forms of diabetes. This chapter describes the pathogenesis, screening, prevention, and treatment of diabetic complications, as well as the management of hyperglycemia in the hospitalized patient. Figures illustrate the pathways that link high blood glucose levels to microvascular and macrovascular complications; fundus abnormalities in diabetic retinopathy; the natural history of nephropathy in type 1 diabetes; cumulative incidence of first cardiovascular events, stroke, or death from cardiovascular disease in patients with type 1 diabetes; the effect of intensive glycemic therapy on the risk of myocardial infarction, major cardiovascular event, or cardiovascular death in patients with type 2 diabetes; and risk of death in patients with type 2 diabetes who receive intensive therapy of multiple risk factors or conventional therapy. Tables describe screening schedules for diabetic complications in adults, foot care recommendations for patients with diabetes, and comparison of major trials of intensive glucose control. This chapter has 238 references.


2003 ◽  
Vol 284 (4) ◽  
pp. E655-E662 ◽  
Author(s):  
Gregory J. Crowther ◽  
Jerrold M. Milstein ◽  
Sharon A. Jubrias ◽  
Martin J. Kushmerick ◽  
Rodney K. Gronka ◽  
...  

This study asked whether the energetic properties of muscles are changed by insulin-dependent diabetes mellitus (or type 1 diabetes), as occurs in obesity and type 2 diabetes. We used 31P magnetic resonance spectroscopy to measure glycolytic flux, oxidative flux, and contractile cost in the ankle dorsiflexor muscles of 10 men with well-managed type 1 diabetes and 10 age- and activity-matched control subjects. Each subject performed sustained isometric muscle contractions lasting 30 and 120 s while attempting to maintain 70–75% of maximal voluntary contraction force. An altered glycolytic flux in type 1 diabetic subjects relative to control subjects was apparent from significant differences in pH in muscle at rest and at the end of the 120-s bout. Glycolytic flux during exercise began earlier and reached a higher peak rate in diabetic patients than in control subjects. A reduced oxidative capacity in the diabetic patients' muscles was evident from a significantly slower phosphocreatine recovery from a 30-s exercise bout. Our findings represent the first characterization of the energetic properties of muscle from type 1 diabetic patients. The observed changes in glycolytic and oxidative fluxes suggest a diabetes-induced shift in the metabolic profile of muscle, consistent with studies of obesity and type 2 diabetes that point to common muscle adaptations in these diseases.


1993 ◽  
Vol 85 (1) ◽  
pp. 77-81 ◽  
Author(s):  
C. A. Abbott ◽  
M. I. MacKness ◽  
S. Kumar ◽  
A. O. Olukoga ◽  
C. Gordon ◽  
...  

1. The activity of serum butyrylcholinesterase (‘pseudocholinesterase’, EC3.1.1.8) was investigated in 56 patients with type 1 diabetes mellitus, 51 patients with type 2 diabetes mellitus and 101 healthy control subjects. 2. Butyrylcholinesterase activity was significantly elevated in both type 1 (8.10 ± 3.35 units/ml) and type 2 (7.22 ± 1.95 units/ml) diabetes compared with the control subjects (4.23 ± 1.89 units/ml) (P <0.001). 3. In the patients with type 1 and type 2 diabetes, serum butyrylcholinesterase activity was correlated with log serum fasting triacylglycerol concentration (r = 0.41 and r = 0.43, respectively, P <0.001). In the type 2 population serum butyrylcholinesterase activity was also correlated with insulin sensitivity (r = −0.51, P <0.001). 4. Serum butyrylcholinesterase activity was unrelated to age, gender, serum γ-glutamyltranspeptidase activity, body mass index, or treatment for diabetes in both the diabetic populations. 5. In 37 non-diabetic patients with butyrylcholinesterase deficiency serum triacylglycerol levels were in the normal range. 6. These results are consistent with the view that butyrylcholinesterase may have a role in the altered lipoprotein metabolism in hypertriglyceridaemia associated with insulin insensitivity or insulin deficiency in diabetes mellitus.


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