Erratum: [Erratum] Escherichia Coli Endocarditis and Cardiac Abscess: A Rare Presentation in a Patient with a Prosthetic Aortic Valve.

[This corrects the article DOI: 10.12890/2023_004203.].

Escherichia Coli Endocarditis and Cardiac Abscess: A Rare Presentation in a Patient with a Prosthetic Aortic Valve.

Introduction: There are very few documented cases of Escherichia coli endocarditis with cardiac abscesses in the literature. Here we describe a case presentation with diagnostic challenges and a multidisciplinary approach to management. Case description: This is a rare presentation of E. coli endocarditis in a patient with a prosthetic aortic valve. Initial tests were inconclusive and further investigation with transoesophageal echocardiography was required to make the diagnosis. Despite initial improvement, the patient deteriorated and ultimately died of complications related to the presentation. Discussion/conclusion: E. coli is a rare causative organism for endocarditis, which can itself be difficult to diagnose. A multidisciplinary approach to investigation and treatment is required when infective endocarditis is suspected. Transoesophageal echocardiography may be required to diagnose endocarditis when there is a strong clinical suspicion and risk factors present. LEARNING POINTS: Infective endocarditis should be thoroughly investigated for in cases where there is a high clinical suspicion, but atypical organisms grown in blood cultures.A transoesophageal echocardiogram (TOE) may be a better imaging modality when endocarditis is strongly suspected, in comparison to a transthoracic echocardiogram (TTE).Escherichia coli endocarditis carries a high mortality rate, and early intervention is key in managing patients presenting with suspected endocarditis.

Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.

Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the potentially damaging and pathogenic variants in the beta (ß)-thalassemia major patients and thalassemia minor carriers of Southern Punjab, Pakistan. A total of 49 ß-thalassemia major patients and 49 carrier samples were screened for the identification of HBA1, HBA2, HBB, HBD, HBE1, HBG1 and HBG2 variants by NGS. PCR was performed for the amplification of HB encoding genes and the amplified product of 13 patients and 7 carrier samples were processed for the Sanger sequencing. Various bioinformatics tools and databases were employed to reveal the functional impact and pathogenicity potential of the observed variants. Results depicted a total of 20 variants of HB-related genes by NGS and 5 by Sanger sequencing in thalassemia patients. While 20 variants by NGS and 3 by Sanger were detected in carriers. Few known genetic variants of HB-encoding genes are being reported for the first time in Pakistani thalassemia patients and carriers. However, two novel HBB variants c.375A>C (p.P125P) and c.*61T>G and a novel variant of HBE1 (c.37A>T (p.T13S)) were also documented. Pathogenicity analysis predicted the pathogenic potential of HBB variants (c.47G>A (p.W16*), c.27-28insG (p. S10fs), and c.92+5G>C) for ß thalassemia. The study of functional impact indicated that these HBB variants result in the premature termination of translation leading to the loss of functional ß-globin protein. It is therefore suggested that the pathogenic HBB variants, identified during present study, can be employed for the diagnosis, carrier screening, and planning therapy of thalassemia.