Comprehensive cardiopulmonary assessment in α mannosidosis.

INTRODUCTION: α Mannosidosis is an extremely rare, progressive, and complex lysosomal storage disease, characterized by mental retardation, hearing impairment, coarse facial features, skeletal abnormalities, and pulmonary involvement. While bone marrow transplantation has been the only therapeutic option to date, nowadays new treatment options are being explored, which may affect pulmonary and exercise capacity. AIM AND METHODS: To assess cardiopulmonary involvement in patients with α mannosidosis by pulmonary function tests, cardiopulmonary exercise testing, and low irradiation chest computed tomography (CT). RESULTS: Five patients aged 11 to 28 years were followed in our Respiratory-Metabolic Clinic. All five had pulmonary symptoms and received inhaled therapy. Three patients underwent bone marrow transplantation. Parenchymal lung disease was evident in 3/5 chest CT tests. Pulmonary function tests were abnormal in all patients and showed obstructive/restrictive impairment with air trapping. All five patients showed reduced peak oxygen uptake (median 23.1; range 20.4-32.2 mL/minute/kg, median %predicted 62; range %predicted 59-79). CONCLUSIONS: Pulmonary involvement is a known complication in this rare disease. Comprehensive cardiopulmonary evaluation is feasible among these patients and may help in assessing disease progression and response to new treatment modalities.

A PET/MR Imaging Approach for the Integrated Assessment of Chemotherapy-induced Brain, Heart, and Bone Injuries in Pediatric Cancer Survivors: A Pilot Study.

Purpose To develop a positron emission tomography (PET)/magnetic resonance (MR) imaging protocol for evaluation of the brain, heart, and joints of pediatric cancer survivors for chemotherapy-induced injuries in one session. Materials and Methods Three teams of experts in neuroimaging, cardiac imaging, and bone imaging were tasked to develop a 20-30-minute PET/MR imaging protocol for detection of chemotherapy-induced tissue injuries of the brain, heart, and bone. In an institutional review board-approved, HIPAA-compliant, prospective study from April to July 2016, 10 pediatric cancer survivors who completed chemotherapy underwent imaging of the brain, heart, and bone with a 3-T PET/MR imager. Cumulative chemotherapy doses and clinical symptoms were correlated with the severity of MR imaging abnormalities by using linear regression analyses. MR imaging measures of brain perfusion and metabolism were compared among eight patients who were treated with methotrexate and eight untreated age-matched control subjects by using Wilcoxon rank-sum tests. Results Combined brain, heart, and bone examinations were completed within 90 minutes. Eight of 10 cancer survivors had abnormal findings on brain, heart, and bone images, including six patients with and two patients without clinical symptoms. Cumulative chemotherapy doses correlated significantly with MR imaging measures of left ventricular ejection fraction and end-systolic volume, but not with the severity of brain or bone abnormalities. Methotrexate-treated cancer survivors had significantly lower cerebral blood flow and metabolic activity in key brain areas compared with control subjects. Conclusion The feasibility of a single examination for assessment of chemotherapy-induced injuries of the brain, heart, and joints was shown. Earlier detection of tissue injuries may enable initiation of timely interventions and help to preserve long-term health of pediatric cancer survivors. © RSNA, 2017 Online supplemental material is available for this article.

Sonographic detection of pneumothorax by radiology residents as part of extended focused assessment with sonography for trauma.

OBJECTIVE: The purpose of this study was to assess the accuracy of sonographic pneumothorax detection by radiology residents as a part of extended focused assessment with sonography for trauma (eFAST). METHODS: In a prospective study, a sonographic search for pneumothoraces was performed as part of a standard FAST examination by the on-call resident. Each lung field was scanned at the second to fourth anterior intercostal spaces and the sixth to eighth midaxillary line intercostal spaces. A normal pleural interface was identified by the presence of parietal-over-visceral pleural sliding with "comet tail" artifacts behind. Absence of these normal features indicated a pneumothorax. The sonographic diagnosis was correlated with supine chest radiography and chest computed tomography (CT). RESULTS: A total of 338 lung fields in 169 patients were included in the study. Patients underwent eFAST, chest radiography, and chest CT when clinically indicated. Chest CT was considered the reference standard examination. Computed tomography identified 43 pneumothoraces (13%): 34 small and 9 moderate. On chest radiography, 7 pneumothoraces (16%) were identified. Extended FAST identified 23 pneumothoraces (53%). Compared with CT, eFAST had sensitivity of 47%, specificity of 99%, a positive predictive value of 87%, and a negative predictive value of 93%. All of the moderate pneumothoraces were identified by eFAST. Twenty small pneumothoraces missed by eFAST did not require drainage during the hospitalization period. CONCLUSIONS: Extended FAST performed by residents is an accurate and efficient tool for early detection of clinically important pneumothoraces.