Relationship between diabetic retinopathy and methylenetetrahydrofolate reductase gene polymorphism

Purpose: To assess MTHFR rs 1801133 [C677T] gene polymorphism in diabetic patients as a risk factor for diabetic retinopathy and to establish the changes in Platelet indices and count in diabetic patient as compared to the healthy control group

Patients and Methods: The study included 40 patients with Type 2 Diabetes Mellitus. They were divided into 2 equal groups, 20 patients with Diabetic Retinopathy, 20 patients without Diabetic Retinopathy. Patients were selected from those attending the outpatient Ophthalmology Unit and Diabetes Clinic of Al-Zahraa University Hospital in the period from June 2014 to June 2015. Their ages ranged between 34 to 66 years old

They were 14 males and 26 females. Twenty cases apparently healthy individuals were selected as a control group. All cases were subjected to full history taking and complete ophthalmological examination. Also laboratory investigations were done including complete blood picture, kidney and liver function tests, coagulation profile, urine analysis, lipid profile, fasting and postprandial blood sugar and Genetic study for detection of MTHFR gene C677T mutation [rs 1801133] by real time PCR

Results: In all diabetic patients the mutant homozygous TT showed a highly statistically significant increase in FBS [p=0.000], PPBS [p=0.000], HbAlC [p=0.000] and cholesterol [p=0.001] as compared to wild type. Also in all diabetic patients the mutant homozygous TT showed a highly statistically significant increase in FBS [p=0.002], PPBS [p=0.001], HbAlC [p=0.019] and cholesterol [p=0.012] as compared to heterozygous mutant type

Conclusion: The homozygous mutant type [TT] of rs!801133 was detected in 10% of DR patients group while absent in DWR group and the control group. The heterozygous mutant type [CT] was increased in DR group [50%] as compared to DWR group [35%] and the control group [25%]

Prevalence of thrombophilic gene polymorphisms [FVL G1691A and MTHFR C677T] in patients with myocardial infarction

Inherited thrombophilia may be caused by mutations, polymorphisms in a variety of genes mainly involved in haemostatic pathways was to find the prevalence of thrombophilic gene factor V Leiden [FVL] and methylene tetrahydrofolate reductase [MTHFR] gene polymorphism in patients with myocardial infarction [MI], aiming at early diagnostic methods and guiding preventive procedures. This study was carried on 30 patients who survived their first MI as compared to 15 healthy volunteers. Patients and controls were subjected to history, physical examination. Factor VL G1691A and MTHFR C677T genotypes were determined by RT PCR. The prevalence of heterozygous FVL GA genotype was significantly higher among MI patients as compared to the control group. The prevalence of mutant homozygous AA was significantly higher in MI patients as compared to control. The low risk cases had a higher frequency of GA genotype as compared to high risk cases. As regards MTHFR C677T gene polymorphism, the prevalence of heterozygous MTHFR C677T CT genotype showed significant increase in MI patients compared with the control group. The prevalence of mutant homozygous TT genotype was significantly higher in MI patients as compared to the control group. The low risk cases had a higher frequency of heterozygous MTHFR C677T CT genotype than high risk cases The prevalence of heterozygous [FVL G1691 A] and MTHFR C677T gene polymorphisms was significantly increased in MI patients compared with the control group and these gene polymorphisms are probably risk factors for myocardial infarction among Egyptian cases especially if integrated with other environmental and genetic risk factors. We recommended screening high risk patients for this polymorphism and the use of specific thromboprophylaxis to prevent recurrent thrombotic disease

Renal and ocular complications and it's relationship to glycemic control, CD95 and soluble fas [s Fas] in type 1 diabetes mellitus [DM]

Type 1 diabetes mellitus [DM] is an autoimmune disease that results from the destruction of insulin-secreting pancreatic islet beta cells by autoreactive cells and their mediators. The aim of this study was to analyze the expression of Fas receptors [CD[95]] on T and B lymphocytes from patients with type 1 DM and to assess the role of soluble Fas [s-Fas] in Fas mediated apoptosis of T and B lymphocytes, and to assess the role of glycemic control in renal and ocular complications. This study was carried out on three groups: Group I: consist of 16 patients with type 1 DM. Their age ranged from [11-18] years old with mean duration of illness 6 +/- 4 months. Group II: consist of 16 patients with long standing type 1 DM, their age ranged from 10 19 years old, with mean duration of illness 30 +/- 10 months. Group III: consist of 16 healthy persons their age ranged from 10.5 -19.5 years old. Results can be summarized as follows: The incidence of positive microalbuminuria as well as incidence of retinopathy were significantly higher in group II [long standing DM] than newly diagnosed case [group I]. Microalbuminuric patients had significantly higher HbA[1]C than others. Newly diagnosed cases [group I] as well as [group II] long standing DM type 1 had significantly higher percentage of T and B lymphocyte bearing Fas receptors [CD[95]] as compared to control group. Mean plasma level of s-Fas showed a significant increase in both DM groups as compared to control group. There is no significant difference in the percentage of lymphocytes expressing CD95, and plasma s-Fas levels when compared microalbuminuric to normoalbuminuric patients. There was positive correlation between HbA[1]C and microalbuminuria in diabetic patients, there was positive correlation between HBA[1]C and% of lymphocyte expressing the Fas receptors [CD95]. In both diabetic groups, positive correlation was found between HbA[1]C and s-Fas in DM type 1. Also, positive correlation was found between% of cells expressing CD[95] and s-Fas. In conclusion, the study of the possible role of apoptosis of autoreactive lymphocytes and its regulation, in the pathogenesis of type 1 DM may provide new therapeutic tools for the prevention of the disease. Further analysis, is necessary to finally settle this point, to elucidate the roles played by distinct immunological pathway in diabetes pathogenesis, this can lead to more effective and targeted therapies for the disease. Poor glycemic control is an essential initiating factor of defective apoptosis in type 1DM

Leptin level and plasma prothrombotic factors in obese subjects

Obesity is associated with increased cardiovascular morbidity and mortality. Abnormalities in coagulation and haemostasis represent a well-known link between obesity and thrombosis [both arterial and venous]. In human, production of a depocyte-derived peptide, leptin has been linked to adiposity; recent studies have shown that plasminogen activator inhibitor-1 [PAI-1], a prothrombotic factor associated with atherosclerosis complication is also produced in adipose tissue. Several studies reported that obese subjects had elevated levels of vonWillbrand factor [vWF] and fibrinogen. The aim of this work is to examine the relationship of obesity, fat distribution and serum leptin concentration with plasma levels of Prothrombotic factors [PAI-1 - [vWF] and fibrinogen] and lipid pattern [Triglycerides and Cholesterol] as metabolic parameters. The body fat distribution was evaluated by measuring the body mass index [BMI] and waist-to-hip ratio [WHR]

Interleukin-10, Interleukin- 16 and Interferon-gamma in serum of patients with rheumatoid arthritis and correlation with disease activity

Rheumatoid arthritis [RA] is a systemic inflammatory disease of unknown etiology. The rheumatoid synovium is characterized by infiltration of T cells, macrophage, B cells, and proliferating fibroblasts which aggressively invade cartilage and bone, thus destroying joints' ability to function. In rheumatoid arthritis [RA] both an imbalance between excessive production of the proinflamatory and ant-inflammatory cytokines and skewing of the T cell to a T helper like response. Cytokines have been shown to play a modulatory role in the pathogenesis of RA. The imunoregulatory cytokine IL-10 increases autoantibody production by B cell stimulates its survival, proliferation and differentiation. Moreover IL-10 inhibits the generation of proinflamatory cytokines and proliferation of T helper lymphocyte. Interleukin 16 might play a role in the pathogenesis of chronic inflammation in RA. It has a proinflamatory properties by promoting recruitment of T cells into the rheumatoid synovium. Also IFN-gamma is of interest because of the role it plays in the initiation and perpetuation of T helper cell. Serum level of IL-10, IL-16, and IFN-gamma were determined in patients with rheumatoid arthritis in relation to disease activity. All patients with RA [n=30] showed highly significant increase in ESR, CRP, IL-10, IL16, IFNgamma compared to control group [p<0.01]. Positive correlation were found between IL-10 and each IL-16 and IFN-gamma [p<0.001] [r=0.63, 0.55] respectively, and highly significant correlation between IL-16 and IFNgamma [p<0.001] [r=0.89]were determined. Results showed positive correlation between ESR and each IL-10, IL-16, IFNgamma [p<0.001] [r=0.67, 0.87, 0.75] respectively. And highly significant correlation between CRP and each IL10, IL-16, IFNgamma [p<0.001] [r=0.0.71, 0.83, 0.73] which indicate relation between increase level of cytokine with disease activity. These data suggest that there is increased production of IL-10, IL-16, and IFN-gamma in patients with rheumatoid arthritis, and that it is correlated with the disease activity. These cytokines are interesting for further research and novel therapeutic approach in this inflammatory disease