International Journal of Medical Laboratory

107-119

Authors: Alireza Zafarani, Ali Amini

Ferroptosis is a type of cell death associated with excess intracellular iron and lipid peroxidation, distinct from other types of cell deaths by function and morphology. The role of ferroptosis in autoimmune disorders, which are related to inadequate removal of dead cells and debris, and infectious disorders like bacterial and viral infection have been discussed vastly. Overall, this review provides a comprehensive update on the role of ferroptosis in autoimmune and infectious diseases and suggests that targeting ferroptosis may have therapeutic potential for treating these diseases.

127-143

Authors: Roshanak Shamriz , Kamran Atarodi , Minoo Ahmadinejad , Nasrin Ghasemi *

Background and Aims: von Willebrand disease (VWD) is brought on by hereditary impairments in the von Willebrand factor (VWF). It has been determined that most of the molecular abnormalities are present in exon 28 of the VWF gene qualitative variations. In this regard, investigating mutations in exon 28 of the VWF coding gene can help identify the VWD type and can be used to manage patients by using appropriate strategies. Materials and Methods: 10 suspected VWD type 2B patients were investigated for the genotype of exon 28. Routine coagulation tests were performed for the patients. Molecular sequencing was also used for the evaluation of mutations in exon 28. Determining the tertiary structure of VWF can aid in understanding its functional residues and interactions. The nsSNVs’ pathogenicity was examined utilizing potent bioinformatics methods. Step-by-step testing of the high-risk mutations was done using SIFT, PolyPhen-2, I-Mutant 2.0, PHD-SNPg, and SNPs&GO. Then, the secondary structure, amino acid conservation, and feature of amino acids were investigated via Protparam, Cofactor, Interprosurf, ConSurf, NetSurfP-2.0, and HOPE. Results: N1231T, V1229G, V1316M, and P1266Q missense mutations in VWF were detected. 3D structure of VWF predicted and evaluated. Putative conserved domains were identified. P1266Q and V1316M amino acid substitutions are predicted as “Not tolerated substitution” damaging and Disease, while V1229G and N1231T amino acid substitutions are predicted as “tolerated substitution” benign and Neutral. Conclusion: V1316M and P1266Q amino acid substitutions were determined as high-risk mutations using powerful bioinformatics tools in VWD patients.

157-165

Authors: Fahimeh Ghanbari , Navid Abedpoor , Maryam Peymani , Seyedeh-leili Asadi-Yousefabad , Marzieh Lotfi , Mohammad Hasan Sheikhha , Mahta Mazaheri *

Background and Aims: The composition of the Microbiota can be influenced by various lifestyle and environmental factors, including diet. We designed a study to investigate the improving effects of plant extract, the combination of turmeric, ginger, boswellia, and cat’s claw on the abundance of key members of the gut microbiota, Bacteroidetes, Akkermansia muciniphila (A. muciniphila), Faecalibacterium prausnitzii (F. prausnitzii), Firmicutes and Bifidobacterium in mice treated with advanced glycation end products (AGE) rich high-fat diet (HFD). Materials and Methods: Eighteen 2-month age male C57BL/6 mice were adopted to a regular diet for 1 week and then fed with an HFD or regular diet. After 8 weeks of diet, animals received plant extract concurrently with HFD for 8 weeks. Stools were taken, DNA of stool samples was extracted, and qPCR of 16s rDNA universal primers was performed. Then the effect of plant extract on dysbiosis induced by AGE-rich HFD was accessed. Results: Our results revealed the frequencies of Bacteroidetes (p=0.001), A. muciniphila (p= 0.0005), F. prausnitzii (p<0.0001), and Bifidobacterium (p= 0.0008) were reduced, whereas the frequency of Firmicute was increased in the AGE-rich HFD group. A significant increase in the F/B ratio was observed in the HFD group than in the regular diet group (p= 0.0003). plant extract reduced the F/B ratio and improved gut microbiota homeostasis. Conclusion: Plant extract restored gut microbiota patterns in HFD-treated mice. It seems more studies are required to prove the application of plant extracts for modulating the gut microbiota as a promising new biomarker with potential for therapeutic applications.

173-178

Authors: Mohadeseh Kamali , Mehdi Taheri Sarvtin *

Background and Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is humans’ most common erythrocyte enzyme defect. About 400 million people are estimated to be affected by this disorder worldwide. Antimalarial drugs, especially primaquine, and other oxidative stress, can cause hemolytic complications in G6PD deficient individuals. This study aimed to evaluate the prevalence of G6PD deficiency in Kerman City in southern Iran. Materials and Methods: This descriptive cross-sectional study was conducted from 2016 to 2021. Blood samples were taken from all patients with symptoms of G6PD deficiency who were referred to a general hospital in Kerman City in southern Iran. The G6PD enzyme activity was measured qualitatively by fluorescent spot test. Results: A total of 6369 patients were included in this study. G6PD deficiency was seen in 424 (6.7%) subjects. Of 424 patients, 359 (84.7%) were severely G6PD deficient, and 65 (15.3%) patients exhibited partial deficiency. G6PD deficiency was seen in 324 (9.3%) males and 100 (3.4%) females (p < 0.001). Conclusion: The results of our study confirmed the existence of G6PD deficiency in a significant percentage of patients in Kerman City. Therefore, many people in this city are exposed to hemolytic complications if they use antimalarial drugs and other oxidative substances. According to our results, testing G6PD deficiency and monitoring the potential primaquine toxicity in patients who receive primaquine are highly recommended.