Diabetic retinopathy is the most common complications of diabetes mellitus that, in most occasions, lead to blindness. Multiple evidences linked the serum magnesium, iron and ferritin disturbance with diabetes and its complications. A case-control study was conducted at Makkah Eye Complex, Khartoum, Sudan, to compare the levels of serum magnesium, iron and ferritin in patients with diabetic retinopathy with diabetic patients without diabetic retinopathy (controls). Findings indicate that all patients had type 2 diabetes. The two groups (50 in each arm) were well matched in their basic characteristics. Median (25th-75th interquartile) of serum magnesium in patients with diabetic retinopathy were significantly lower than patients without diabetic retinopathy [1.48 (0.75-1.64) vs. 1.92 (1.4-2.3)mg/dl, P = 0.022]. The median of serum iron and ferritin were lower in cases than control group but did not reach a statistical significance [20.5 (17.2-48.0) vs. 27.0 (16.0-54.0) μg/dl, P = 0.568; 98.0 (45.0-134.75) vs. 101.0 (47.0-161.0) μg/l, P = 0.818]. The duration of diabetes [16.5 (9.3) vs. 11.2 (6.6) years; P = 0.014] and haemoglobin level [13.7 (0.9) vs. 12.5 (2.0) g/dl; P = 0.039] were significantly higher in cases group than control group. A significant inverse correlation was observed between serum magnesium and iron levels. Twenty (40 %) patients had severe non-proliferative diabetic retinopathy with mild macular edema, which is the most prevalent type among the cases group. Hypomagnesaemia among diabetic patients was associated with diabetic retinopathy, while serum iron and ferritin have no significant effect in this setting. Severe non-proliferative diabetic retinopathy with mild macular edema is the prevalent type in this study.
BACKGROUND: Retinoblastoma (RB), the commonest early childhood intraocular tumor, is most often related to mutations in the RB1 gene with an incidence of 3% of all pediatric tumors. It has good prognosis if diagnosed early but it is life-threatening when diagnosed late. OBJECTIVE: To study the Molecular Genetic Analysis of Retinoblastoma (RB) in Sudanese families. METHODS: Thirty one (n=31) clinically and histopathologically diagnosed cases of RB attending Makkah Eye Complex (MEC) Orbit clinic (Khartoum, Sudan) were included in this Molecular Genetic RB Analysis. Fresh blood samples extracted from seven RB patients and 15 close families for DNA extraction and PCR were sent for Genetic Sequencing and In silico approach for "Exon 18 mutations" which is one of the highly mutated exons worldwide. RESULTS: The majority of patients (41.9%) were below five years old. Females were 58.1%, males were 41.9%. Leukocoria was the commonest sign at presentation (41.9%). RB Unilaterality were in (77.4%) while Bilaterality in 19.4%. Both eyes were equally affected 50% each. The age at diagnosis time ranged from 0.02 to five years. Consanguinity of parents was very high (85.7%), the 1 st degree cousins were less (28.6%) while the 2 nd degree was high (57.1%). The patients' ethnic background and geographical area were from seven different tribes; all belong to the Western Sudan. The molecular genetic study showed that exon 18 was free of mutation among the seven patients + their three relatives. The Functional Analysis and (SNPs) prediction study of exon 18 from NCBI data base showed that the various computational approaches used (SIFT, PolyPhen-2, I-mutant and Project hope) identified 16 reported mutations worldwide, three of which (rs137853292, rs375645171 and rs772068738) are major nsSNPs (non-synonymous) which might contribute to native RB1 protein malfunction and ultimately causing carcinoma. CONCLUSION: RB mainly affected children under five years and both sexes are equally affected. Unilaterality was predominant. Consanguinity plays a role in inheritance and the majority of patients were from Western Sudan. The most commonly detected deleterious mutations worldwide in exon 18 were not found in the Sudanese studies samples. Further screening for the highly reported mutations in exons 8, 10 and 14 or Next Generation Sequencing (NGS) are recommended. In silico tools are useful in studying the functional analysis of SNPs.
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