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A whole-genome linkage study is performed to identify a rare missense mutation in candidate gene, SFTPA2 and other genes that are defective in idiopathic pulmonary fibrosis (IPF), a lethal scarring lung disease that affects older adults. The data obtained are found to be consistent with SFTPA2 germline mutations that interfere with protein trafficking and cause familial IPF and lung cancer.

The initial management of patients presenting with acute pulmonary embolism (PE) is individualized based on hemodynamic status and other prognostic factors. Patients at low risk of adverse outcomes are treated conservatively with anticoagulation, whereas high-risk and selected intermediate-risk patients should be considered for advanced interventions. Seeking to better understand local practice patterns, we retrospectively reviewed 196 cases of acute PE diagnosed in the emergency department of Baylor University Medical Center over a 12-month period. Given the available data, we classified 86 cases as low risk, 101 as intermediate risk, and 9 as high risk for early mortality. Four patients with high-risk PE and 11 patients with intermediate-risk PE were treated with thrombolytic therapy. Central embolus location, right ventricular dilation on computed tomography, and right ventricular strain on electrocardiogram were associated with the use of thrombolytic therapy in the intermediate-risk group. In total, 9 patients died and 11 suffered major bleeding. Patients with acute PE are a remarkably heterogeneous group with wide variations in workup, treatment, and outcomes. [ABSTRACT FROM AUTHOR]

Background: Telomerase is an enzyme that catalyzes the addition of nucleotides on the ends of chromosomes. Rare loss of function mutations in the gene that encodes the protein component of telomerase (TERT) have been described in patients with idiopathic pulmonary fibrosis (IPF). Here we examine the telomere lengths and pulmonary fibrosis phenotype seen in multiple kindreds with heterozygous TERT mutations. Methods and Findings: We have identified 134 individuals with heterozygous TERT mutations from 21 unrelated families. Available medical records, surgical lung biopsies and radiographs were evaluated retrospectively. Genomic DNA isolated from circulating leukocytes has been used to measure telomere lengths with a quantitative PCR assay. We find that telomere lengths of TERT mutation carriers decrease in an age-dependent manner and show progressive shortening with successive generations of mutation inheritance. Family members without TERT mutations have a shorter mean telomere length than normal, demonstrating epigenetic inheritance of shortened telomere lengths in the absence of an inherited TERT mutation. Pulmonary fibrosis is an age-dependent phenotype not seen in mutation carriers less than 40 years of age but found in 60% of men 60 years or older; its development is associated with environmental exposures including cigarette smoking. A radiographic CT pattern of usual interstitial pneumonia (UIP), which is consistent with a diagnosis of IPF, is seen in 74% of cases and a pathologic pattern of UIP is seen in 86% of surgical lung biopsies. Pulmonary fibrosis associated with TERT mutations is progressive and lethal with a mean survival of 3 years after diagnosis. Overall, TERT mutation carriers demonstrate reduced life expectancy, with a mean age of death of 58 and 67 years for males and females, respectively. Conclusions: A subset of pulmonary fibrosis, like dyskeratosis congenita, bone marrow failure, and liver disease, represents a ''telomeropathy'' caused by germline mutations in telomerase and characterized by short telomere lengths. Family members within kindreds who do not inherit the TERT mutation have shorter telomere lengths than controls, demonstrating epigenetic inheritance of a shortened parental telomere length set-point. [ABSTRACT FROM AUTHOR]

Pulmonary alveolar proteinosis is an uncommon cause of insidious onset shortness of breath and hypoxemia. It is caused by an accumulation of surfactant within the alveoli. Left untreated, it can be fatal. Standard-of-care treatment is whole-lung lavage; however, in severe cases, the associated hypoxemia can be profound and single-lung ventilation would not be tolerated, potentially preventing a lifesaving treatment. Single cases using veno-venous extracorporeal membrane oxygenation to perform whole-lung lavage have been reported. Here we describe three patients with severe pulmonary alveolar proteinosis who were successfully treated with whole-lung lavage using veno-venous extracorporeal membrane oxygenation for oxygenation support., (Copyright © 2021 Baylor University Medical Center.)

The initial management of patients presenting with acute pulmonary embolism (PE) is individualized based on hemodynamic status and other prognostic factors. Patients at low risk of adverse outcomes are treated conservatively with anticoagulation, whereas high-risk and selected intermediate-risk patients should be considered for advanced interventions. Seeking to better understand local practice patterns, we retrospectively reviewed 196 cases of acute PE diagnosed in the emergency department of Baylor University Medical Center over a 12-month period. Given the available data, we classified 86 cases as low risk, 101 as intermediate risk, and 9 as high risk for early mortality. Four patients with high-risk PE and 11 patients with intermediate-risk PE were treated with thrombolytic therapy. Central embolus location, right ventricular dilation on computed tomography, and right ventricular strain on electrocardiogram were associated with the use of thrombolytic therapy in the intermediate-risk group. In total, 9 patients died and 11 suffered major bleeding. Patients with acute PE are a remarkably heterogeneous group with wide variations in workup, treatment, and outcomes.

Chylopericardium is an uncommon condition, reported to occur following routine cardiac surgery, orthotopic heart transplantation, cardiac trauma, intrathoracic tumors, or infection. It has not, to date, been reported following uncomplicated orthotopic lung transplantation. This article describes chylopericardium following bilateral orthotopic lung transplantation.