Effect of MTHFR A1298C Gene Polymorphism on Acute Coronary Syndrome.

BACKGROUND: Cardiovascular disease (CVD) is the leading cause of mortality worldwide. Acute coronary syndrome is a manifestation of CVD. In Indonesia, limited studies have been conducted on genetics as a potential risk factor for acute coronary syndrome (ACS). Consequently, this study aimed to examine the effect of the methylenetetrahydrofolate reductase (MTHFR) A1298C gene polymorphism on the incidence of ACS. METHOD: The study employed a case-control design. Outpatients from the cardiology and internal medicine clinics at the University of Airlangga (UNAIR) Hospital in Surabaya, Indonesia, constituted the study population. The case group comprised 60 patients with a history of ACS, while the control group consisted of 30 patients without a history of cardiovascular complaints. MTHFR A12980C gene polymorphism examination was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) method at the Tropical Disease Center UNAIR Laboratory. RESULTS: Among the ACS group, 29 (48.1%), 13 (21.7%), and 18 (30%) of the individuals had AA, AC, and CC genotype patterns, respectively. In the control group, 16 individuals had AA (53.3%), 6 AC (20%), and 8 CC (26.7%). The C allele variant was identified in 41% of the ACS group and 37% of the control group. The odds ratio (OR) for the incidence of ACS was 1.195 (95% confidence interval [CI]; 0.381-3.752), 1.241 (95% CI; 0.481-3.486), and 1.222 (95% CI; 0.381-3.752). Chi-square analysis revealed no association between MTHFR A1298C gene polymorphism and the incidence of ACS (P > 0.05). CONCLUSIONS: MTHFR A1298C gene polymorphism did not significantly affect ACS incidence.

Acute Limb Ischemia due to Arterial Thrombosis in a Patient with COVID-19 Pneumonia: A Case Report.

The COVID-19 pandemic has caused more than 4 million deaths worldwide to date. During the course of the COVID-19 pandemic, thrombotic complications due to hypercoagulable state have emerged as an important issue. Acute limb ischemia is one of emergency cases in vascular disease caused by a sudden decrease in arterial limbs perfusion. Here, we report a 53-year-old male patient with severe COVID-19 and a history of uncontrolled type 2 diabetes mellitus (T2DM) who developed extensive arterial thrombosis and limb ischemia despite being on therapeutic-dose anticoagulation, requiring surgical intervention. Right and left leg open thrombectomy was performed at day 7 after admission due to the excruciating pain and the worsening of the limb conditions. The patient was transferred to intensive care unit in emergency room because of the unstable hemodynamic and passed away a few hours after the surgery. For critically ill patients with COVID-19, special attention should be paid to abnormal coagulation dysfunction and microcirculatory disorders.

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.

Urease Levels and Gastritis Stage in Dyspeptic Patients.

BACKGROUND: Dyspepsia is a frequent main symptom of inpatients and outpatients scenario in Indonesia. However, the number of endoscopy facilities are still low, thus the use of non-invasive method to detect gastritis is necessary. We measured the relationship between urease levels and the stage of gastritis in dyspeptic adult patients. METHODS: A cross-sectional study included outpatient dyspepsia patient from November 2018 to February 2019. We examined 14C-Urea Breath Test (UBT) and determined the stage of gastritis based on the Updated Sydney System classification. RESULTS: The urease level of acute and chronic gastritis positive patients were higher than negative patients (p = 0.001, r = 0.353; p <0.0001, r = 0.433, respectively). The AUC value of 14C-UBT to detect acute, chronic, and atrophic gastritis are 0.889, 0.632 and 0.544, respectively. The best cut-off points of 14C-UBT to predict acute gastritis was ≥26.50δ‰ with sensitivity and specificity being 88.89% and 63.95%, respectively. Whereas the best cut-off points for chronic gastritis was ≥34.50δ‰ with 82.89% sensitivity, 63.16% specificity. As for atrophic gastritis, it showed very low AUC value, hence it is not a sufficient test modality to predict atrophic gastritis cases. CONCLUSION: 14C-UBT is sufficient for predicting acute or chronic gastritis but not for atrophic gastritis.

Diagnostic Value of 14C Urea Breath Test for Helicobacter pylori Detection Compared by Histopathology in Indonesian Dyspeptic Patients.

PURPOSE: Histopathology method is often used as a gold standard diagnostic for Helicobacter pylori infection in Indonesia. However, it requires an endoscopic procedure which is limited in Indonesia. A non-invasive method, such as 14C Urea Breath Test (UBT), is more favorable; however, this particular method has not been validated yet. PATIENTS AND METHODS: A total of 55 dyspeptic patients underwent gastroscopy and 14C-UBT test. We used Heliprobe® UBT for UBT test. As for the histology, May-Giemsa staining of two gastric biopsies (from the antrum and corpus) were evaluated following the Updated Sydney System. RESULTS: The Receiver Operating Characteristics analysis showed that the optimum cut-off value was 57 with excellence Area under Curve = 0.955 (95% CI = 0.861-1.000). By applying the optimum cut-off value, Heliprobe® UBT showed 92.31% for sensitivity, 97.62% for specificity, 92.31% for positive predictive value, 97.62% for negative predictive value, 38.77 for positive likelihood ratio, 0.0788 for negative likelihood ratio, and 96.36% for the accuracy. CONCLUSION: The 14C-UBT is an accurate test for H. pylori diagnosis with excellent sensitivity, specificity, and accuracy. The different optimum cut-off points suggested that a validation is absolutely necessary for new test prior application to the new population.