Detection of human platelets antigen polymorphism (HPA-1 and HPA-3) and human factor XIII mutation in Sudanese women with recurrent pregnancy loss.

BACKGROUND: Recurrent pregnancy Loss (RPL) is common problem affecting many couples. A certain genetic variants link to increase the danger of this condition particularly HPA-1, HPA-3 and Human Factor XIII Val34Leu Mutation. The present study aims to find an association between RPL and the Factor XIII Val34Leu polymorphism, as well as HPA-1 and HPA-3 in Sudanese women with RPL. METHODS: This case-control study conducted between June 2022 and December 2022 included 216 women, with 103 cases having minimum three abortions in the past, and 113 healthy controls with at least two full-term births and no abortion history. DNA was isolated from whole blood and the status of three genetic polymorphisms (HPA-1, HPA-3, and factor XIII) was done using a polymerase chain reaction (PCR). Data was analysed using the SPSS version 24 software. RESULTS: The A/A genotype was found to be more prevalent in cases (79.6%) and controls (96.5%) regarding HPA-1. A significant difference was observed in overall allele frequency for B allele (97.0%) and expected frequency of A allele was (81.1%) using the Hardy-Weinberg distribution (p < 0.001). The genotype A/A was most common in these patients (90.3%) and controls (100%), while B/B genotype was only (9.7%) in patients regarding HPA-3. Furthermore, the frequency of Val/Val genotype was higher in cases (88.3%) as compared with controls (90.3%). The risk of RPL in patients was nearly the same in Val/Leu individuals and controls group but all these differences were not statistically significant (p > 0.05). CONCLUSION: Our results indicate a link between Human Platelet Antigen-1 (HPA-1), Human Platelet Antigen-3 (HPA-3) and Factor XIII gene polymorphism with RPL.

Impact of Uncontrolled Diabetes Mellitus on Blood Cells Indices and Plasma Components in Patients Without Nephropathy.

<b>Background and Objective:</b> Diabetes mellitus (DM) the most prevalent consequences are diabetic retinopathy, neuropathy, cardiovascular illnesses, erectile dysfunctions, stroke and cardiovascular difficulties. The main goal of this study was to evaluate the impact of uncontrolled diabetes mellitus on blood cells' indices and plasma components. <b>Materials and Methods:</b> This is a prospective cross-sectional study. The research was carried out at the King Fahad Medical Center in Riyadh, in duration from February, 2023 to May, 2023, in the interest of healthcare consumers attending the hematology laboratory for routine investigations. Sixty samples were collected and complete blood count, lipid profile, HbA1c and blood glucose for blood samples. <b>Results:</b> In this study, females accounted for 53.3% of the participants, while males accounted for 46.7%. In terms of age distribution, more than 55 years old accounted for 50% of the study's participants. A significant correlation has been found between HbA1c and red blood cell Mean Cell Volume (MCV) and there was a significant association between the high level of HbA1c and the red blood count. However, there was no significant correlation between plasma components and HbA1c. <b>Conclusion:</b> There is a remarkable effect of uncontrolled diabetes mellitus and RBCs count and erythrocyte MCV.

Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients.

Background: A genetic polymorphism that causes abnormal folate metabolism may lead to genomic instability and increase susceptibility to malignancies such as Acute Lymphoblastic leukemia (ALL). The purpose of this research is to identify methylene tetrahydrofolate reductase (MTHFR C677T) (NCBI ID: 4524) mutation in ALL patients. Methods: The study was a descriptive case-control hospital-based study with one hundred Sudanese participants divided equally into fifty (50) Sudanese ALL diagnosed patients as cases and fifty (50) Sudanese individuals as controls. The MTHFR C677T mutant allele was detected using conventional PCR, with the primer sequence of MTHFR C677T F-TGAAGGAAGGTGTCTGCGGGA R-AGGACGGTGCGGTGAGAGTG. The study was conducted from January to March 2023, and samples were collected from the Radiation and Isotops Center at Khartoum Hospital. Results: The investigation revealed that 12 of the 50 patients in the case group (24%) had the MTHFR C677T mutant allele, and the study also revealed that there is significant correlation with the control group. There is no significant relationship between socio-demographic variables and MTHFR mutation detection in ALL patients. Also, the sociodemographic variables predictors of MTHFR mutation among ALL patients adjusted for smoking habit revealed no significant relationship. Conclusion: According to the findings of this study, the mutant allele of the Methylene Tetra Hydro Folate Reductase C677T was detected and demonstrated varying degrees of significance. It was concluded that the MTHFR C677T gene mutation was associated with acute lymphoblastic leukemia in Sudanese patients.

Utility of KRAS Gene and Clinicopathological Features in the Assessment of the Risk of Type 2 Diabetes in the Etiology of Colon Cancer.

Background Cancer and diabetes have a tremendous impact on health globally. This study aimed to evaluate the KRAS gene in colon cancer tissues obtained from patients with type 2 diabetes mellitus (T2DM). Materials and Methods Data from 315 cases (156 colon diabetics and 159 patients were nondiabetics) were retrospectively retrieved. mRNA from surgically resected colon cancer tumors were also retrieved. Results The expression of KRAS mRNA was significantly higher in patients afflicted with T2DM than nondiabetic patients. The KRAS mRNA levels were significantly amplified from primary to metastatic lesions ( p < 0.001). Conclusion The association between T2DM and colon cancer was well-established in the present study.

Role of human Cytomegalovirus in the etiology of nasopharyngeal carcinoma.

OBJECTIVE: The purpose of this study was to identify human Cytomegalovirus (HCMV) in tissue blocks obtained from patients with nasopharyngeal carcinoma (NPC). MATERIALS AND METHODS: Formalin-fixed paraffin wax processed NPC tissue were obtained from 150 tissue blocks and retrospectively investigated for the presence of HCMV using polymerase chain reaction. RESULTS: Of the 150 NPC tissue specimens, HCMV was identified in 53/150 (35.3%) of the samples. Out of the 53 samples infected with HCMV, 33/97 (34%) were among males and 20/53 (37.7%) were among females. Of the 53 positive samples, 36/53 (68%) were found to harbor Epstein-Barr virus (EBV). CONCLUSION: The present study has shown a relatively considerable association between HCMV and NPC. The great majority of samples sheltering HCMV were also found to hide EBV, which proposes the potentiality of EBV over HCMV.

Immunohistochemical expression of cytokeratins and epithelial membrane protein 2 in nasopharyngeal carcinoma and its potential implications.

BACKGROUND: Nasopharyngeal carcinoma (NPC) is an aggressive disease and tends to involve surrounding tissues, and biomarkers for better management are yet to be identified. MATERIALS AND METHODS: One hundred and fifty tissue samples with NPC diagnosis were were investigated using pan cytokeratin (CK) and epithelial membrane protein 2 (EMP2) antibodies. RESULTS: Immunohistochemical expression of CK was identified in 144/150 (96%) and of EMP2 in 120/150 (80%). CONCLUSIONS: There is a high loss of EMP2 in NPC, especially high grade examples. Loss of CK expression is also linked to high grade NPC types.

Molecular screening for Epstein Barr virus (EBV) among Sudanese patients with nasopharyngeal carcinoma (NPC).

OBJECTIVE: The aim of this study was to screen for the presence of Epstein Barr Virus (EBV) among Sudanese patients with Nasopharyngeal Carcinoma (NPC). METHODS: In this study, 150 tissue samples that were previously diagnosed as having NPC were screened for the presence of EBV using Polymerase Chain Reaction (PCR). PCR was performed to amplify two viral genes; EBV nuclear antigen-4 (EBNA-4) and latent membrane protein-1 (LMP1). RESULTS: EBV genes were detected in 92/150 (61.3%) tissue samples. Of the 92 infected samples, 58/92 (63%) were found among males and 34/92 (37%) were among females. CONCLUSION: EBV is prevalent in the Sudan and responsible of the vast majority of cases of NPC.