Spontaneous Hemothorax from Pulmonary Intralobar Sequestration: A Case Report

Introduction: Pulmonary sequestration is a rarely reported phenomenon where aberrant lung tissue exists independently from the rest of the tracheobronchial network. Complications may include hemothorax; however, there is a paucity of descriptions of this condition in the literature. Case Report: We describe a case of a pulmonary intralobar sequestration resulting in atraumatic tension hemothorax. A 73-year-old woman presented to our facility in extremis and with complaints of acute-onset flank pain. Her evaluation was notable for a large pulmonary sequestration with a presumed, moderate-sized effusion; however, initial review did not reveal an obvious underlying cause for her symptoms. Shortly after her arrival to the emergency department (ED) she experienced a cardiac arrest. On secondary review of her computed tomographic angiography, it was determined that what was previously thought to be a pleural effusion was a large hemothorax. Following this finding, a finger thoracostomy was performed, which resulted in the immediate evacuation of hemothorax. The thoracostomy was then converted into an ED thoracotomy to assess for active hemorrhage with brief return of spontaneous circulation. Prior to proceeding with emergent operative intervention, the patient’s spouse requested that all further resuscitative efforts cease, and the patient was allowed to expire. In a review of the case, it was determined that the patient suffered from cardiac arrest due to a spontaneous hemothorax secondary to a large intralobar pulmonary sequestration. Conclusion: Pulmonary intralobar sequestration can result in spontaneous hemorrhage with fatal results. Early and correct interpretation of imaging and surgical intervention are crucial in ED management

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes

<p>Abstract</p> <p>Background</p> <p>Methylmalonic acidemia (MMA), a common organic aciduria, is caused by deficiency of the mitochondrial localized, 5'deoxyadenosylcobalamin dependent enzyme, methylmalonyl-CoA mutase (MUT). Liver transplantation in the absence of gross hepatic dysfunction provides supportive therapy and metabolic stability in severely affected patients, which invites the concept of using cell and gene delivery as future treatments for this condition.</p> <p>Methods</p> <p>To assess the effectiveness of gene delivery to restore the defective metabolism in this disorder, adenoviral correction experiments were performed using murine <it>Mut </it>embryonic fibroblasts and primary human methylmalonyl-CoA mutase deficient hepatocytes derived from a patient who harbored two early truncating mutations, E224X and R228X, in the <it>MUT </it>gene. Enzymatic and expression studies were used to assess the extent of functional correction.</p> <p>Results</p> <p>Primary hepatocytes, isolated from the native liver after removal subsequent to a combined liver-kidney transplantation procedure, or <it>Mut </it>murine fibroblasts were infected with a second generation recombinant adenoviral vector that expressed the murine methylmalonyl-CoA mutase as well as eGFP from distinct promoters. After transduction, [1-¹⁴C] propionate macromolecular incorporation studies and Western analysis demonstrated complete correction of the enzymatic defect in both cell types. Viral reconstitution of enzymatic expression in the human methylmalonyl-CoA mutase deficient hepatocytes exceeded that seen in fibroblasts or control hepatocytes.</p> <p>Conclusion</p> <p>These experiments provide proof of principle for viral correction in methylmalonic acidemia and suggest that hepatocyte-directed gene delivery will be an effective therapeutic treatment strategy in both murine models and in human patients. Primary hepatocytes from a liver that was unsuitable for transplantation provided an important resource for these studies.</p

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease

The Global Regulator Ler Is Necessary for Enteropathogenic Escherichia coli Colonization of Caenorhabditis elegans

Enteropathogenic Escherichia coli (EPEC) is an important cause of infant diarrhea in developing countries and is useful for general investigations of the bacterial infection process. However, the study of the molecular pathogenesis of EPEC has been hampered by the lack of genetically tractable, convenient animal models. We have therefore developed the use of the nematode Caenorhabditis elegans as a small animal model of infection for this diarrheal pathogen. We found that nematodes died faster on nematode growth medium in the presence of EPEC pathogens than in the presence of the laboratory control strain MG1655. Increased numbers of pathogens in the gut, determined by standard plate count assays and fluorescence microscopy using green fluorescent protein-expressing bacteria, correlated with killing. Deletion of the gene encoding the global regulator Ler severely reduced the ability of EPEC to colonize the nematode gut and could be complemented by providing the ler gene on a multicopy plasmid in trans. Neither the type III secretion system nor the type IV bundle-forming pilus was required for colonization. Combined, the similarities and distinct differences between EPEC infection of nematodes and that of humans offer a unique opportunity to study several stages of the infection process, namely, attachment, colonization, and persistence, in a genetically tractable, inexpensive, and convenient in vivo system