A mild form of Familial Mediterranean Fever associated with a polymorphisms C.NT 1588,-69G>
Published on: 11th August, 2020
OCLC Number/Unique Identifier: 8648993484
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutation(s) in the Mediterranean fever (MEFV, pyrinmarenostrin) gene [1,2]. FMF is characterized by recurrent fever crises combined with serosal, synovial, or cutaneous inflammation and, in some individuals, by the eventual development, in the long-term, of systemic amyloidosis [3,4]. FMF mainly affects peoples living along eastern Mediterranean Sea (Turks, Sephardic Jews, Armenians) and it is not a rare disease in other Mediterranean areas such as Greeks, Italians and Iranians [4,6]. Until now, more than 304 sequence variants have been recorded [6]. In Italy M694V, V726A, M680I, M694I and E148Q are the most frequent FMF-associated mutations [7].
Here, we describe a recent case of mild FMF, characterized by all the clinical manifestations indicative of FMF described in the literature, according to Tei-Hashomer criteria [4] and by the analysis of MEFV gene, characterized by polymorphism c1588-69G>A. This is in agreement with previous our observations in a wider sample collected in the years. We are training to define the relations among gene mutations and clinical forms of FMF.
Evaluation of influence of IL-6 C-572G gene polymorphism and clinical factors on positive platelet antibody test
Published on: 15th January, 2021
OCLC Number/Unique Identifier: 8899339688
Background: Interleukin-6 (IL-6) promotes antibody production. The objective of this study was to investigate whether IL-6 C-572G single nucleotide polymorphisms (SNP) and clinical factors are associated with positive platelet antibody test.
Materials and methods: Thirty platelet recipients with platelet antibodies (responders) and 20 platelet recipients without platelet antibodies (non-responders) were randomly selected. The -572 C>G (rs 1800796) SNPs in the promoter region of IL-6 gene were genotyped by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Solid phase red cell adherence assay (SPRCA) was used for platelet antibody detection.
Results: Age, sex, percentage patients with benign diseases, and percentage of patients with homozygotes for the C allele at position -572 of the IL-6 gene were similar between responders and non-responders. Although the amounts of platelets pheresis transfused to patients with hematologic diseases were higher than those of non-hematologic diseases (47.2 ± 54.2 vs. 17.4 ± 13.8 units, p = 0.019), detection rate of platelet antibodies was lower in patients with hematologic diseases than that in patients with non-hematologic diseases (42.3% vs. 79.2%, p = 0.01).
Conclusion: There was no association between IL-6 C-572G gene polymorphism and positive reactivity in solid phase platelet antibody detection method in platelet recipients.
ACE2 and TMPRSS2 polymorphisms and the development of COVID-19: a review of the literature
Published on: 28th April, 2022
SARS-CoV-2 is a virus that has a positive-sense, single-stranded RNA genome that encodes 4 structural proteins, the main one being the S protein (Spike) responsible for mediating with ACE2 and TMPRSS2 for entry into the host cell. The study of single nucleotide polymorphisms (SNPs) of ACE2 and TMPRSS2 can elucidate their possible intervention in the action of the protein, its activity, and the gene expression of encoding these enzymes, which may increase susceptibility to viral infection. From this, literature searches were carried out until December 2021, listing 11,820 publications for literary analysis on the described genetic variations of these protein structures, as well as their relation and influence on the pathology. It was possible to conclude that there is a great influence exerted by genetic variability in ACE2 and TMPRSS2 increasing the ability of the virus to bind to the host cell and the development of COVID-19 with complications.
Association of Cytokine Gene Polymorphisms with Inflammatory Responses and Sepsis Outcomes in Surgical and Trauma Patients
Published on: 19th February, 2024
Sepsis, a life-threatening condition triggered by infection, poses a significant healthcare challenge with high mortality rates. The interplay between genetics and the immune response in sepsis, particularly in surgical and trauma patients, is complex and critical. Genetic polymorphisms, particularly in cytokine genes like TNF-α, IL-6, and IL-8, have been extensively studied for their influence on sepsis susceptibility, severity, and outcomes. Polymorphisms can alter gene expression and cytokine production, leading to variations in immune responses. Studies have also explored polymorphisms concerning sepsis in genes encoding CD86, TLR4, and SIRT6. This review highlights the association between genetic polymorphisms and inflammatory responses, focusing on their impact on sepsis outcomes in surgical and trauma patients. Genetic variations play a significant role in sepsis risk, severity, and prognosis, with potential implications for personalized therapeutic strategies. Biomarkers such as cytokine gene polymorphisms may aid in predicting sepsis risk and guiding treatment decisions. Complementary therapies like acupuncture and novel biomarkers like microvesicles carrying mitochondrial content provide additional avenues for personalized sepsis management. Furthermore, multiomics approaches offer promise in predicting postoperative outcomes in surgical patients. Understanding the genetic basis of sepsis is essential for improving prevention, diagnosis, and treatment, ultimately leading to better clinical outcomes. Combining genomics, bioinformatics, and clinical expertise, precision medicine can revolutionize sepsis management by tailoring interventions to individual genetic profiles, thus enhancing patient care and outcomes.
Gilbert’s Syndrome Revealed by Hepatotoxicity of Imatinib
Published on: 12th March, 2025
Gilbert’s Syndrome (GS) is a hereditary disease that can cause hyperbilirubinemia due to a mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Polymorphisms in the UGT1A1 gene are associated with induced hyperbilirubinemia by Tyrosine Kinase Inhibitors (TKI) in Chronic Myeloid Leukemia (CML). We report a case of patient who developed hepatotoxicity when treated on Imatinib and subsequently diagnosed with Gilbert’s syndrome. Eight months after initiating Imatinib, the patient developed conjunctival jaundice and signs of hepatotoxicity with increase in liver enzymes and hyperbilirubinemia with elevated level of unconjugated bilirubin. Gilbert’s syndrome was suspected in the presence of predominantly unconjugated hyperbilirubinemia and a prior history of transient episodes of jaundice. Genetic testing revealed homozygosity for the UGT1A1 TA7 (*28) polymorphism. Imatinib was stopped due to continuous increase of aminotransferases and hyperbilirubinemia and restarted after improvement of Liver Function Tests (LFTs) with a reduced dose of 200 mg/day but LFTs worsted again, and the patient was switched to Dasatinib 100 mg/day, without hepatic cytolysis and a mild persistent hyperbilirubinemia after a follow up of 20 months.Patients with an unexplained rise in serum bilirubin levels on Imatinib therapy should be screened for the genetic UGT1A1 polymorphisms.
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