Initial study on TMPRSS2 p.Val160Met genetic variant in COVID-19 patients.

BACKGROUND: Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and systemic inflammatory disease. It is thought that host genetic variability may affect the host's response to the virus infection and thus cause severity of the disease. The SARS-CoV-2 virus requires interaction with its receptor complex in the host cells before infection. The transmembrane protease serine 2 (TMPRSS2) has been identified as one of the key molecules involved in SARS-CoV-2 virus receptor binding and cell invasion. Therefore, in this study, we investigated the correlation between a genetic variant within the human TMPRSS2 gene and COVID-19 severity and viral load. RESULTS: We genotyped 95 patients with COVID-19 hospitalised in Dr Soetomo General Hospital and Indrapura Field Hospital (Surabaya, Indonesia) for the TMPRSS2 p.Val160Met polymorphism. Polymorphism was detected using a TaqMan assay. We then analysed the association between the presence of the genetic variant and disease severity and viral load. We did not observe any correlation between the presence of TMPRSS2 genetic variant and the severity of the disease. However, we identified a significant association between the p.Val160Met polymorphism and the SARS-CoV-2 viral load, as estimated by the Ct value of the diagnostic nucleic acid amplification test. Furthermore, we observed a trend of association between the presence of the C allele and the mortality rate in patients with severe COVID-19. CONCLUSION: Our data indicate a possible association between TMPRSS2 p.Val160Met polymorphism and SARS-CoV-2 infectivity and the outcome of COVID-19.

Severe microcytosis in a hemoglobin E/Β-thalassemia patient with signs of iron deficiency: A case report.

Background: ß-thalassemia is a hereditary disorder characterized by a decrease in the synthesis of ß-globin chains that decreases hemoglobin in erythrocytes, low erythrocyte production, and anemia. Case presentation: A 6-year-old girl came with complaints of paleness for one week. Physical examination showed vital signs within normal limits, conjunctival anemia, and hepatomegaly. Investigations: HGB 5.4 g/dL, MCV 44.5 fL, MCH 15.5 pg, MCHC 34.8 g/dL, RDW-CV 29.2%, WBC 4,770/µL, PLT 2,728,000/µL, Serum iron 29 g/dL, TIBC 217 g/dL and transferrin saturation of 13.36%. Peripheral blood smears showed target cells, teardrop cells, ovalocytes, fragmentocytes, cigar cells, and pseudothrombocytosis by automated hematology tools caused by the misinterpretation of small erythrocytes as platelets. Hemoglobin electrophoresis showed a decrease in HbA (4.9%), as well as an increase in HbF (18.3%), HbE (70.5%), and HbA2 (6.3%). The patient was diagnosed with ß-thalassemia. Discussion: Thalassemia with severe microcytosis suggests possible coexistence with iron deficiency. A complete iron profile examination is required in these patients to ensure appropriate and comprehensive medical management. Conclusion: Iron profile examination plays an essential role in the management and diagnosis of ß-thalassemia patients.

Performance comparison of two malaria rapid diagnostic test with real time polymerase chain reaction and gold standard of microscopy detection method.

Background: The diagnostic test for malaria is mostly based on Rapid Diagnostic Test (RDT) and detection by microscopy. Polymerase Chain Reaction (PCR) is also a sensitive detection method that can be considered as a diagnostic tool. The outcome of malaria microscopy detection depends on the examiner's ability and experience. Some RDT has been distributed in Indonesia, which needs to be evaluated for their results. Objective: This study aimed to compare the performance of RightSign RDT and ScreenPlus RDT for detection of Plasmodium in human blood. We used specific real-time polymerase chain reaction abTESTMMalaria qPCRII) and gold standard of microscopy detection method to measure diagnostic efficiency. Methods: Blood specimens were evaluated using RightSign RDT, ScreenPlus RDT, Microscopy detection, and RT-PCR as the protocol described. The differences on specificity (Sp), sensitivity (Sn), positive predictive value (PPV), and negative predictive value (NPV) were analyzed using McNemar and Kruskal Wallis analysis. Results: A total of 105 subjects were recruited. Based on microscopy test, RightSign RDT had sensitivity, Specificity, PPV, NPV, 100%, 98%, 98.2%, 100%, respectively. ScreenPlus showed 100% sensitivity, 98% specificity, 98.2% PPV, 100% NPV. The sensitivity of both RDTs became lower (75%) and the specificity higher (100 %) when using real-time PCR. Both RDTs showed a 100% agreement. RTPCR detected higher mix infection when compared to microscopy and RDTs. Conclusion: RightSign and ScreenPlus RDT have excellent performance when using microscopy detection as a gold standard. Real-time PCR method can be considered as a confirmation tool for malaria diagnosis.