Paul L. Molina

Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia

Background— Primary ciliary dyskinesia (PCD) is a recessive genetic disorder that is characterized by sinopulmonary disease and reflects abnormal ciliary structure and function. Situs inversus totalis occurs in ≈50% of PCD patients (Kartagener’s syndrome in PCD), and there are a few reports of PCD with heterotaxy (situs ambiguus), such as cardiovascular anomalies. Advances in diagnosis of PCD, such as genetic testing, allow the systematic investigation of this association. Methods and Results— The prevalence of heterotaxic defects was determined in 337 PCD patients by retrospective review of radiographic and ultrasound data. Situs solitus (normal situs) and situs inversus totalis were identified in 46.0% and 47.7% of patients, respectively, and 6.3% (21 patients) had heterotaxy. As compared with patients with situs solitus, those with situs abnormalities had more ciliary outer dynein arm defects, fewer inner dynein arm and central apparatus defects (P<0.001), and more mutations in ciliary outer dynein arm genes (DNAI1 and DNAH5; P=0.022). Seven of 12 patients with heterotaxy who were genotyped had mutations in DNAI1 or DNAH5. Twelve patients with heterotaxy had cardiac and/or vascular abnormalities, and most (8 of 12 patients) had complex congenital heart disease. Conclusions— At least 6.3% of patients with PCD have heterotaxy, and most of those have cardiovascular abnormalities. The prevalence of congenital heart disease with heterotaxy is 200-fold higher in PCD than in the general population (1:50 versus 1:10 000); thus, patients with PCD should have cardiac evaluation. Conversely, mutations in genes that adversely affect both respiratory and embryological nodal cilia are a significant cause of heterotaxy and congenital heart disease, and screening for PCD is indicated in those patients.

High-resolution computed tomography of the chest in children with cystic fibrosis: support for use as an outcome surrogate.

Background. Outcome surrogates are indicators that reflect, rather than directly measure, patient benefit. In order to provide useful results, however, outcome surrogates must be carefully chosen and must meet specific criteria. Objective. To support development of high-resolution computed tomography (HRCT) as an outcome surrogate in cystic fibrosis (CF) by demonstrating the ability of HRCT to show short-term improvement in the appearance of the lungs in children with CF. Materials and methods. HRCT was performed at admission and after discharge on 8 children during 15 admissions for acute pulmonary exacerbation of CF. Three radiologists scored each study separately, then compared admission and discharge pairs. Results. HRCT scores improved in 13/15 admissions. Mean score decreased from 25 to 22. The decrease was significant (P = 0.014). Comparison of admission and discharge scans showed improvement in peribronchial thickening (P = 0.007), mucous plugging (P = 0.002), and overall appearance (P = 0.025). Conclusion. HRCT has the potential to be a useful outcome surrogate in CF. A necessary attribute of an outcome surrogate is that it improves rapidly with effective therapy. Despite widespread belief among radiologists and pulmonologists that HRCT meets this criterion, no previous report has demonstrated this ability in children. These findings support further development of HRCT as an outcome surrogate in children with CF.

High-Resolution CT of Patients with Primary Ciliary Dyskinesia

OBJECTIVE High-resolution CT is an important tool in the detection and management of bronchiectasis, but there is little information about high-resolution CT findings in primary ciliary dyskinesia (PCD). We analyzed all high-resolution CT studies of the chest available for a cohort of PCD patients to identify an associated pattern of high-resolution CT changes. MATERIALS AND METHODS High-resolution CT studies were available for 45 PCD patients from 42 families with ranges of age and disease severity. The images were assessed for severity and distribution of bronchiectasis, peribronchial thickening, mucous plugging, and other findings. A bronchiectasis severity score was calculated. CT findings were correlated with phenotypic findings, including situs type, ciliary ultrastructural defect, nasal level of nitric oxide, forced expiratory volume in 1 second, and microbiologic findings in the airways. RESULTS Twenty-nine adults (mean age, 42 +/- 15 years; age range, 21-73 years) and 16 children (mean age, 8 +/- 4 years; age range, 1-14 years) were included; 26 (58%) of the patients were women or girls. Situs inversus totalis (38%) or heterotaxy (18%) was identified in 56% of the patients. A high (9%) prevalence of pectus excavatum was identified. High-resolution CT of all of the adult and 56% of the pediatric patients showed bronchiectasis in a predominantly middle and lower lobe distribution. The right middle lobe was most commonly involved. Bronchiectasis severity score correlated with older age and worse pulmonary function. CONCLUSION High-resolution CT shows that pulmonary disease related to PCD predominantly involves the middle and lower lobes of the lungs. In adults, high-resolution CT findings negative for bronchiectasis may have a role in excluding the diagnosis of PCD. Correlation of severity of disease on high-resolution CT with patient phenotype gives further insight into the diversity and natural history of PCD.

Breath‐hold 3D gradient‐echo MR imaging of the lung parenchyma: Evaluation of reproducibility of image quality in normals and preliminary observations in patients with disease

This study evaluates the reproducibility and image quality of a three‐dimensional (3D) gradient‐echo sequence for imaging the lung parenchyma, with and without gadolinium administration, using a 2D spoiled gradient‐echo sequence for comparison. Twenty patients without lung disease (normals) and five patients with lung disease (lung disease) underwent paired 2D and 3D gradient‐echo sequences, without contrast (24 patients) and with contrast (18 patients). Images were retrospectively reviewed independently in a blinded fashion by two investigators. Artifacts and demonstration of central lung, peripheral lung, heart, pulmonary arteries, and esophagus were evaluated. Image quality of the central lung was rated as fair or good in 5 and 4 (reader one and two) patients with non‐contrast 2D gradient‐echo, 24 and 25 patients with non‐contrast 3D gradient‐echo, 3 and 1 patient(s) with contrast‐enhanced 2D gradient‐echo, and 19 and 19 patients with contrast‐enhanced 3D gradient‐echo imaging. Differences in image quality between 2D and 3D sequences were significant (P < 0.001). Heart‐related phase artifacts were negligible in 2 and 0 patients with non‐contrast 2D gradient‐echo, 23 and 25 patients with non‐contrast 3D gradient‐echo, 0 and 0 patients with contrast‐enhanced 2D gradient‐echo, and 17 and 19 patients with contrast‐enhanced 3D gradient‐echo imaging. Differences in heart‐related phase artifact in the central lung between 2D and 3D sequences were significant (P = 0.001). Infiltrates, lung cancer, and pulmonary metastasis were better shown on the gadolinium‐enhanced 3D gradient‐echo sequences than on the other sequences. Breath‐hold 3D gradient‐echo imaging results in good image quality and negligible image artifacts and is superior to 2D spoiled gradient‐echo imaging. Preliminary results in patients with disease appear promising. J. Magn. Reson. Imaging 2000;11:195–200.

Magnetic resonance imaging of pulmonary parenchymal disease using a modified breath-hold 3D gradient-echo technique: Initial observations

To determine the potential of a modified breath‐hold 3D gradient‐echo technique for visualizing pulmonary parenchymal diseases.

Assessment of Real-Time 3D Visualization for Cardiothoracic Diagnostic Evaluation and Surgery Planning

Rationale and ObjectivesRationale and Objectives: Three-dimensional (3D) real-time volume rendering has demonstrated improvements in clinical care for several areas of radiological imaging. We test whether advanced real-time rendering techniques combined with an effective user interface will allow radiologists and surgeons to improve their performance for cardiothoracic surgery planning and diagnostic evaluation.Material and MethodsMaterials and Methods: An interactive combination 3D and 2D visualization system developed at the University of North Carolina at Chapel Hill was compared against standard tiled 2D slice presentation on a viewbox. The system was evaluated for 23 complex cardiothoracic computed tomographic (CT) cases including heart–lung and lung transplantation, tumor resection, airway stent placement, repair of congenital heart defects, aortic aneurysm repair, and resection of pulmonary arteriovenous malformation. Radiologists and surgeons recorded their impressions with and without the use of the interactive visualization system.ResultsResults: The cardiothoracic surgeons reported positive benefits to using the 3D visualizations. The addition of the 3D visualization changed the surgical plan (65% of cases), increased the surgeon’s confidence (on average 40% per case), and correlated well with the anatomy found at surgery (95% of cases). The radiologists reported fewer and less major changes than the surgeons in their understanding of the case due to the 3D visualization. They found new findings or additional information about existing findings in 66% of the cases; however, they changed their radiology report in only 14% of the cases.ConclusionConclusion: With the appropriate choice of 3D real-time volume rendering and a well-designed user interface, both surgeons and radiologists benefit from viewing an interactive 3D visualization in addition to 2D images for surgery planning and diagnostic evaluation of complex cardiothoracic cases. This study finds that 3D visualization is especially helpful to the surgeon in understanding the case, and in communicating and planning the surgery. These results suggest that including real-time 3D visualization would be of clinical benefit for complex cardiothoracic CT cases.

Magnetic resonance imaging of the abdominal aorta and iliac vessels using combined 3-D gadolinium-enhanced MRA and gadolinium-enhanced fat-suppressed spoiled gradient echo sequences

This study evaluates a combined protocol consisting of breath hold immediate post gadolinium 3-D gradient echo MR angiography and blood pool phase gadolinium-enhanced breath hold 2-D fat-suppressed spoiled gradient echo (SGE) sequences in the examination of diseases of the abdominal aorta and iliac vessels. Thirty-two patients with suspected disease of the abdominal aorta, major aortic branches, or iliac vessels underwent MR angiographic study from January 1996 to January 1997. Examinations were performed on a 1.5 T MR imager using 2-D axial SGE, coronal 3-D fast imaging in steady state precession (3-D FISP) following bolus administration of 40 mL of gadolinium, and axial and coronal blood pool phase gadolinium-enhanced fat-suppressed SGE. Post-processed data, including 3-D reconstructions using maximum intensity projection (MIP), targeted MIP, and multiplanar reconstruction (MPR) were evaluated. MR findings in all patients were correlated as follows: surgery (13 patients), angiography (11 patients), contrast enhanced CT (3 patients), non-contrast enhanced CT (1 patient), color doppler US (2 patients), and previous MR study (2 patients). MR findings correlated closely with findings at surgery or other imaging studies in 31 of 32 patients. One patient had renal artery occlusion that was misinterpreted as mild stenosis. The following vascular diseases were present: aneurysm disease [10 patients: aortic aneurysm (8 patients), inflammatory aneurysm (2 patients)], thoracoabdominal aortic dissection (2 patients), arteriovenous fistula (1 patient), stenoses and/or occlusion of the abdominal aorta, major aortic branches and iliac vessels [12 patients: stenoses and/or occlusion of the abdominal aorta with stenoses of the iliac vessels (9 patients), renal artery stenosis (2 patients), occlusion of the abdominal aorta (1 patient)], and occluded artery to pancreatic transplant artery (1 patient). Five patients had normal studies. The 3-D FISP technique accurately defined the luminal contours of vessels, allowing precise depiction of vessel stenosis (i.e., renal artery stenosis or common iliac artery stenosis) and clear demonstration of relationship of aortic branch vessels (i.e., renal arteries) to underlying aortic pathology (i.e., aortic aneurysm or dissection). Blood pool phase gadolinium-enhanced fat-suppressed SGE images were useful in the evaluation of the external surface of vessel walls, and providing accurate measurement of aneurysm diameter and other associated vascular entities (i.e., inflammatory aneurysm, left-sided IVC). Targeted MIP or MPR reconstruction were important for assessing stenoses of medium sized vessels such as renal arteries and branches of the iliac arteries, and for identifying accessory arteries. The combination of immediate post gadolinium 3-D FISP and blood pool phase gadolinium-enhanced fat-suppressed SGE is useful in the evaluation of the abdominal aorta, major aortic branches and iliac vessels. Immediate post gadolinium 3-D FISP images provides diagnostically useful information regarding vessel luminal contour, while blood pool phase gadolinium-enhanced fat-suppressed SGE provides ancillary information on the vessel wall and surrounding tissue.

The spotted spleen : CT and clinical correlation in a tertiary care center

PURPOSE The goal of our study was to examine the prevalence of multiple hypodense splenic nodules and their associated diagnoses and to correlate CT appearance with clinical presentation and diagnosis. METHOD Records of all patients undergoing contrast-enhanced CT from July 1994 through September 1997 were reviewed. Charts and CT scans of patients with multiple (more than five) hypodense splenic nodules were then evaluated. RESULTS During the search period, there were 8,764 patients examined. Multiple hypodense splenic nodules were identified in 45 patients. Sixteen patients had malignant neoplasia as an etiology, with two patients having a benign tumor. Ten patients had an infectious etiology; nine patients had an inflammatory but noninfectious etiology; in eight patients, a diagnosis was not established; five of these patients were followed for > 18 months. CONCLUSION Multiple hypodense splenic nodules are uncommon. Lymphoma, infection, and sarcoid were the three most common disorders in the symptomatic patient, with infection strongly correlated with a compromised immune system. In the asymptomatic patient, nonlymphomatous metastatic disease, benign tumor, and sarcoid were most common. Although overlap exists between diagnostic groups, lymphoma tends to have larger, more variable nodules, whereas infection tends to occur with smaller, more uniform nodules. Sarcoid is intermediate in appearance.

Primary pulmonary chondrosarcoma mimicking bronchogenic cyst on CT and MRI

Pulmonary chondrosarcoma is a rarely encountered primary tumor of the lung. We present a case with computed tomography and magnetic resonance imaging features mimicking a bronchogenic cyst.

ACTH-secreting islet cell tumor: Appearances on dynamic gadolinium-enhanced MRI

Adrenocorticotropic hormone (ACTH) secreting islet cell tumors of the pancreas are extremely rare. A case of an ACTH producing islet cell tumor with multiple liver metastases is reported and the magnetic resonance imaging (MRI) findings are described.