Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy.

Rationale: Neuroendocrine cell hyperplasia of infancy (NEHI) is a diffuse lung disease that presents in infancy and improves during childhood. Long-term outcomes have not previously been described. In one familial cohort, we have reported that NEHI is associated with a heterozygous variant of NKX2.

Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease.

Rationale: Asymptomatic relatives of patients with familial interstitial pneumonia (FIP), the inherited form of idiopathic interstitial pneumonia, carry increased risk for developing interstitial lung disease.

Objectives: Studying these at-risk individuals provides a unique opportunity to investigate early stages of FIP pathogenesis and develop predictive models of disease onset.

Methods: Seventy-five asymptomatic first-degree relatives of FIP patients (mean age, 50.

Histoplasmomas of uncommon size.

Histoplasma capsulatum infection demonstrates a broad spectrum of acute and chronic clinical manifestations. Unlike the acute reaction to proliferating organisms, the chronic complications are often the result of excessive or prolonged host response with a paucity of organisms. Lung nodules (histoplasmomas) may be noted decades after initial infection and present a challenging clinical problem, as they can be difficult to distinguish from malignancy or tuberculomas.

Added value of a serum proteomic signature in the diagnostic evaluation of lung nodules.

Background: Current management of lung nodules is complicated by nontherapeutic resections and missed chances for cure. We hypothesized that a serum proteomic signature may add diagnostic information beyond that provided by combined clinical and radiographic data.

Methods: Cohort A included 265 and cohort B 114 patients.

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation.

CT virtual endoscopy in the evaluation of large airway disease: review.

Objective: The purpose of this article is to illustrate the usefulness and limitations of CT virtual endoscopy in the evaluation of large airway disease.

Conclusion: CT virtual endoscopy is a postprocessing tool that is easy to perform and that can aid in depicting disorders of the large airways without additional radiation or cost other than added time in postprocessing. The benefits of this technique include noninvasive diagnostic surveillance and preoperative planning.

Computed tomography and the idiopathic form of proliferative fibrosing mediastinitis.

Fibrosing mediastinitis is characterized by abnormal proliferation of acellular collagen and fibrous tissue in the mediastinum. Although most cases in the United States are attributed to Histoplasma capsulatum, there is a different and important idiopathic subset, with potentially different treatment and prognosis implications. We reviewed 12 such cases encountered from 1995 to 2004.

Revised curriculum on cardiothoracic radiology for diagnostic radiology residency with goals and objectives related to general competencies.

This document is a revision of a previously published cardiothoracic curriculum for diagnostic radiology residency, and reflects interval changes in the clinical practice of cardiothoracic radiology and changes in the Accreditation Council for Graduate Medical Education (ACGME) requirements for diagnostic radiology training programs. The revised ACGME Program Requirements for Residency Education in Diagnostic Radiology went into effect December 2003.