Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review.

Inherited thrombophilia is an important cause of venous thrombosis. The Factor V Leiden (FVL) is the most commonly encountered mutation, followed by the prothrombin G20210A gene mutation (PTM). The typical venous thrombotic events (VTEs) associated with PTM mutations are deep vein thrombosis (DVT) and pulmonary embolisms (PE). The PTM is inherited in an autosomal dominant pattern with variable penetrance. While heterozygous PTM mutations are more frequent and well documented in the literature, rare cases of homozygous PTM mutations are also reported. In this report, we discuss a 56-year-old male with a past medical history of homozygous prothrombin gene mutation (G20210A) who presented with an unprovoked DVT of the right lower extremity involving both the proximal and distal veins associated with multiple bilateral PEs. This case is unique in terms of the homozygous PTM inheritance, the age at which the patient presented (usually presentation is earlier in life), and the fact that he had a recurrence of both DVT and PE simultaneously.

Serratia marcescens Endocarditis.

Infective endocarditis (IE) secondary to Staphylococcus aureus and streptococcus species comprises the majority of cases in literature with Gram negative bacterial insults occurring infrequently. Serratia marcescens is a Gram negative bacillus which is classified as motile, non-lactose fermenting, and a facultative anerobe. The presumed risk factor for the development of S. marcescens IE is intravenous drug use (IVDU). We report two cases of IE causes by S. marcescens: first case describes IE of tricuspid and aortic valve requiring surgical intervention further complicated by epidural abscess. The second case was associated with renal and splenic infarct. These cases highlight the severity and complicated nature of S. marcescens IE. Given S. marcescens IE has been infrequently described in the literature, we believe that our cases are worth reporting to contribute to the present incidence and management of S. marcescens IE.

Spontaneous Coronary Artery Dissection of the Left Main Coronary Artery.

Heart attacks in young populations are frequently misdiagnosed as reflux disease or anxiety. Spontaneous coronary artery dissection (SCAD) is a coronary artery disease that classically manifests around the age of 45 years and has a fatal outcome if missed. Since it was first described in 1931, our understanding of SCAD has evolved tremendously, particularly with the advent of advanced coronary angiography. Electrocardiograms can show abnormality in the ST-segment, with an elevation of cardiac damage markers. The involvement of the coronary arteries is variable. The left main coronary artery is frequently reported as the main culprit. We are hereby reporting a case of SCAD in a young woman who presented with a heart attack. Particularly, her age is younger than the reported cases, cardiac catheterization revealed a left main artery dissection with a thrombolytic extension, and her complicated case was managed with coronary artery bypass and heart transplantation.

Design, synthesis, and testing toward a 57-codon genome.

Recoding--the repurposing of genetic codons--is a powerful strategy for enhancing genomes with functions not commonly found in nature. Here, we report computational design, synthesis, and progress toward assembly of a 3.97-megabase, 57-codon Escherichia coli genome in which all 62,214 instances of seven codons were replaced with synonymous alternatives across all protein-coding genes. We have validated 63% of recoded genes by individually testing 55 segments of 50 kilobases each. We observed that 91% of tested essential genes retained functionality with limited fitness effect. We demonstrate identification and correction of lethal design exceptions, only 13 of which were found in 2229 genes. This work underscores the feasibility of rewriting genomes and establishes a framework for large-scale design, assembly, troubleshooting, and phenotypic analysis of synthetic organisms.