170 results on '"Patronas NJ"'
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2. CONTRIBUTIONS OF MAGNETIC-RESONANCE-IMAGING IN THE EVALUATION OF OPTIC GLIOMAS
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PATRONAS, NJ DWYER, AJ PAPATHANASIOU, M SCHIEBLER, ML and SCHELLINGER, D
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- 1987
3. Intraparenchymal hemorrhage in preterm neonates: a broadening spectrum
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Schellinger, D, primary, Grant, EG, additional, Manz, HJ, additional, and Patronas, NJ, additional
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- 1988
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4. Cerebral necrosis after radiotherapy and/or intraarterial chemotherapy for brain tumors: PET and neuropathologic studies
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Di Chiro, G, primary, Oldfield, E, additional, Wright, DC, additional, De Michele, D, additional, Katz, DA, additional, Patronas, NJ, additional, Doppman, JL, additional, Larson, SM, additional, Ito, M, additional, and Kufta, CV, additional
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- 1988
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5. Radiographic presentation of spinal abscess in the subdural space
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Patronas, NJ, primary, Marx, WJ, additional, and Duda, EE, additional
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- 1979
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6. Brain abnormalities in patients with hyperimmunoglobulin E syndrome.
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Freeman AF, Collura-Burke CJ, Patronas NJ, Ilcus LS, Darnell D, Davis J, Puck JM, and Holland SM
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- 2007
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7. Pulse Cyclophosphamide for Severe Neuropsychiatric Lupus
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BOUMPAS, DT, YAMADA, H, PATRONAS, NJ, SCOTT, D, KLIPPEL, JH, and BALOW, JE
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We Studied the effect of parenteral pulse cyclophosphamide therapy in nine patients with active systemic lupus erythematosus and severe central nervous system involvement. Seven patients had focal neurological deficits and/or seizures associated with abnormalities on cerebrospinal fluid analysis and/or magnetic resonance imaging. Two patients had organic brain syndrome with psychosis and normal cerebrospinal fluid and/or magnetic resonance imaging analysis. Six patients were unresponsive to treatment with high dose corticosteroid. Cyclophosphamide 0.75–1.0 g/m2 body surface area, was administered intravenously every month for at least 2 months. Eight patients had a complete recovery or recovered with minor residuals. Cyclophosphamide was well tolerated with few side effects. We conclude that parenteral pulse cyclophosphamide is an effective adjunctive therapy for the management of patients with active systemic lupus erythematosus and central nervous system symptoms.
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- 1991
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8. Proton magnetic resonance spectroscopic imaging in progressive supranuclear palsy, Parkinsons disease and corticobasal degeneration
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Tedeschi, G, Litvan, I, Bonavita, S, Bertolino, A, Lundbom, N, Patronas, NJ, and Hallett, M
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- 1997
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9. Proton magnetic resonance spectroscopic imaging in progressive supranuclear palsy, Parkinson's disease and corticobasal degeneration
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Nicholas J. Patronas, Gioacchino Tedeschi, Alessandro Bertolino, M. Hallett, Simona Bonavita, N. Lundbom, Irene Litvan, Tedeschi, Gioacchino, Litvan, I, Bonavita, Simona, Bertolino, A, Lundbom, N, Patronas, Nj, and Hallett, M.
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Male ,Pathology ,medicine.medical_specialty ,Magnetic Resonance Spectroscopy ,Parkinson's disease ,Phosphocreatine ,Lentiform nucleus ,Choline ,Progressive supranuclear palsy ,Centrum semiovale ,Basal ganglia ,medicine ,Humans ,Corticobasal degeneration ,Tissue Distribution ,Aged ,Aged, 80 and over ,Aspartic Acid ,Brain Diseases ,Parietal lobe ,Brain ,Parkinson Disease ,Supranuclear ophthalmoplegia ,Middle Aged ,Creatine ,medicine.disease ,Nerve Degeneration ,Female ,Supranuclear Palsy, Progressive ,Neurology (clinical) ,Protons ,Psychology - Abstract
We used proton magnetic resonance spectroscopic imaging (1H-MRSI) to assess the in vivo cortical and subcortical neuronal involvement in progressive supranuclear palsy, Parkinson's disease and corticobasal degeneration. This technique permitted the simultaneous measurement of compounds containing N-acetylaspartate (NA), choline (Cho), creatine-phosphocreatine (Cre) and lactate, from four 15-mm slices divided into 0.84-ml single-volume elements. The study included 12 patients with progressive supranuclear palsy, 10 with Parkinson's disease, nine with corticobasal degeneration and 11 age-matched normal control subjects. Regions of interest were selected from the brainstem, caudate, thalamus, lentiform nucleus, centrum semiovale, and from frontal, parietal, precentral, temporal and occipital cortices. Progressive supranuclear palsy patients, compared with control subjects, had significantly reduced NA/Cre in the brainstem, centrum semiovale, frontal and precentral cortex, and significantly reduced NA/Cho in the lentiform nucleus. Corticobasal degeneration patients, compared with control subjects, had significantly reduced NA/Cre in the centrum semiovale, and significantly reduced NA/Cho in the lentiform nucleus and parietal cortex. There were no significant differences between Parkinson's disease patients and control subjects, or between patients groups in any individual region of interest. In the parietal cortex of corticobasal degeneration patients, NA/Cho was significantly reduced contralateral to the most affected side. There were statistically significant group differences in the regional pattern of NA/Cre and NA/Cho reduction, comparing normal control subjects with all patient groups, Parkinson's disease with corticobasal degeneration, and Parkinson's disease with progressive supranuclear palsy. Although the occurrence of significant groups differences does not imply that it is possible to differentiate between individual patients using 1H-MRSI in progressive supranuclear palsy and corticobasal degeneration, detection of specific cortical and subcortical patterns of neuronal involvement is possible with this technique. We suggest that this regional pattern of neuronal involvement found in progressive supranuclear palsy and corticobasal degeneration may help in the diagnostic evaluation of affected individuals.
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- 1997
10. Cortical and subcortical chemical pathology in Alzheimer's disease as assessed by multislice proton magnetic resonance spectroscopic imaging
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J.H. Duyn, L. Verhagen Metman, Nicholas J. Patronas, Alessandro Bertolino, G. Di Chiro, T. N. Chase, Simona Bonavita, N. Lundbom, Gioacchino Tedeschi, Tedeschi, Gioacchino, Bertolino, A, Lundbom, N, Bonavita, Simona, Patronas, Nj, Duyn, Jh, Metman, Lv, Chase, Tn, and DI CHIRO, G.
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Brain Mapping ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,Brain ,Magnetic resonance imaging ,Middle Aged ,Creatine ,Magnetic Resonance Imaging ,Brain mapping ,Phosphocreatine ,White matter ,chemistry.chemical_compound ,medicine.anatomical_structure ,chemistry ,Alzheimer Disease ,medicine ,Humans ,Choline ,Multislice ,Neurology (clinical) ,Protons ,Aged ,Phosphocholine - Abstract
Background: Multislice proton magnetic resonance spectroscopic imaging (1H-MRSI) permits the simultaneous acquisition of N-acetylaspartate (NA), choline (Cho), creatine/phosphocreatine (Cre), and lactate (Lac) signal intensities from four 15-mm slices divided into 0.84-ml single-volume elements. NA is inferred to be a neuron-specific molecule, whereas Cho mainly reflects glycerophosphocholine and phosphocholine, compounds involved in phospholipid metabolism. Objective: To assess whether 1H-MRSI could detect a regional pattern of cortical and subcortical involvement in the brain of Alzheimer's disease (AD) patients. Methods: 1H-MRSI was performed in 15 patients with probable AD and 15 age-matched healthy controls. Regions of interest (ROIs) were selected from frontal (FC), temporal (TC), parietal (PC), occipital, and insular cortices, subcortical white matter (WM), and thalamus. Results: In AD patients, we found a significant reduction of NA/Cre in the FC, TC, and PC and a significant reduction of Cho/Cre in the WM. Conclusions: This 1H-MRSI study of AD patients shows a regional pattern of neuronal damage in the associative cortices, as revealed by significant reduction of NA/Cre in the FC, TC, and PC, and regional derangement of phospholipid metabolism, as revealed by significant reduction of Cho/Cre in the WM.NEUROLOGY 1996;47: 696-704
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- 1996
11. Proton magnetic resonance spectroscopic imaging in patients with cerebellar degeneration
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Mark Hallett, Jeffrey R. Alger, Steve G. Massaquoi, Alessandro Bertolino, Alan S. Barnett, Nicholas J. Patronas, Gregory Campbell, Simona Bonavita, Gioacchino Tedeschi, Tedeschi, Gioacchino, Bertolino, A, Massaquoi, Sg, Campbell, G, Patronas, Nj, Bonavita, Simona, Barnett, A, Alger, Jr, and Hallett, M.
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Adult ,Cerebellum ,Pathology ,medicine.medical_specialty ,Magnetic Resonance Spectroscopy ,Degeneration (medical) ,Severity of Illness Index ,Choline ,Phosphocreatine ,Central nervous system disease ,chemistry.chemical_compound ,Nuclear magnetic resonance ,Atrophy ,Cerebellar Diseases ,medicine ,Cerebellar Degeneration ,Humans ,Lactic Acid ,Aged ,Aspartic Acid ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,Middle Aged ,Creatine ,medicine.disease ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,nervous system ,Neurology ,chemistry ,Nerve Degeneration ,Lactates ,Cerebellar atrophy ,Neurology (clinical) ,Protons ,business - Abstract
Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age-matched normal control subjects. This technique permits the simultaneous measurement of N-acetylaspartate, choline-containing compounds, creatine/phosphocreatine, and lactate signal intensities from four 15-mm slices divided into 0.84-ml single-volume elements. Because patients with cerebellar degeneration often show substantial atrophy on magnetic resonance imaging (MRI), we specifically chose to analyze the spectroscopic signals only from tissue that did not have an atrophic appearance on the MRI. The spectroscopic findings showed a significant reduction of N-acetylaspartate in all parts of the cerebellum, a significant correlation with MRI scores of cerebellar atrophy, and a significant correlation with clinical rating scores of cerebellar disturbance. Our method of analysis suggests the presence of a neurodegenerative process in cerebellar areas that do not appear to be atrophic on the MRI. Some limitations of proton magnetic resonance spectroscopic imaging in the present study were related to the partial field inhomogeneity characteristics of the posterior fossa, the anatomical location of the cerebellum, and the particularly severe cerebellar atrophy in some of the patients.
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- 1996
12. Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease
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Gioacchino Tedeschi, N J Patronas, Alessandro Bertolino, Simona Bonavita, Joseph A. Frank, N W Barton, Jeffry R. Alger, Raphael Schiffmann, Tedeschi, Gioacchino, Bonavita, Simona, Barton, Nw, Betolino, A, Frank, Ja, Patronas, Nj, Alger, Jr, and Schiffmann, R.
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Magnetic Resonance Spectroscopy ,Adolescent ,Phosphocreatine ,Caudate nucleus ,Creatine ,Choline ,Central nervous system disease ,chemistry.chemical_compound ,Parietal Lobe ,Centrum semiovale ,medicine ,Humans ,Lactic Acid ,Child ,Niemann-Pick Diseases ,Aspartic Acid ,medicine.diagnostic_test ,business.industry ,Parietal lobe ,Brain ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,Frontal Lobe ,Psychiatry and Mental health ,chemistry ,Frontal lobe ,Papers ,Female ,Surgery ,Neurology (clinical) ,Caudate Nucleus ,Nuclear medicine ,business - Abstract
OBJECTIVES—10 patients with Niemann-Pick disease type C (NP-C) were studied by proton magnetic resonance spectroscopic imaging (1H-MRSI) to assess the biochemical pathology of the brain and to determine whether this method can be useful to clinically evaluate these patients. METHODS—1H-MRSI permits the simultaneous measurement of N-acetyl aspartate (NA), compounds containing choline (Cho), creatine plus phosphocreatine (Cre), and lactate (Lac) signal intensities from four 15 mm slices divided into 0.84 ml single volume elements. Spectroscopic voxels were identified from seven regions of interest. RESULTS—In patients with NP-C, NA/Cre was significantly decreased in the frontal and parietal cortices, centrum semiovale, and caudate nucleus; Cho/Cre was significantly increased in the frontal cortex and centrum semiovale. Significant correlations were found between clinical staging scale scores and 1H-MRSI abnormalities. CONCLUSION—1H-MRSI showed diffuse brain involvement in patients with NP-C consistent with the pathological features of the disease. 1H-MRSI is an objective and sensitive tool to neurologically evaluate patients with NP-C.
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- 1998
13. Issues in the in vivo measurement of glucose metabolism of human central nervous system tumors
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L. Mansi, Rodney A. Brooks, Barry H. Smith, D. Bairamian, Paul L. Kornblith, John Barker, Nicholas J. Patronas, Giovanni Di Chiro, DI CHIRO, G, Brooks, Ra, Patronas, Nj, Bairamian, D, Kornblith, Pl, Smith, Bh, Mansi, Luigi, and Barker, J.
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Central nervous system ,Astrocytoma ,Deoxyglucose ,Tissue culture ,Nuclear magnetic resonance ,Central Nervous System Diseases ,Fluorodeoxyglucose F18 ,Ischemia ,In vivo ,Glioma ,TRACER ,medicine ,Animals ,Humans ,Backflow ,Fluorodeoxyglucose ,medicine.diagnostic_test ,Chemistry ,business.industry ,Brain ,medicine.disease ,Phosphoric Monoester Hydrolases ,Glucose ,medicine.anatomical_structure ,Neurology ,Blood-Brain Barrier ,Evaluation Studies as Topic ,Positron emission tomography ,Neurology (clinical) ,Nuclear medicine ,business ,Tomography, Emission-Computed ,medicine.drug - Abstract
Over 150 cases of central nervous system tumors have been studied with positron emission tomography using fluorine-18-labeled fluorodeoxyglucose (18FDG) as a tracer. From this material 100 consecutive cases of cerebral glioma have been reviewed and analyzed. The results show a strong correlation of tumor grade with glycolytic rate, with visual "hot spots" present in all high-grade neoplasms and in only four low-grade tumors. The quantitative accuracy is limited by three basic factors. First, the measurement of tissue uptake, as compared with the parent technique, autoradiography, is more difficult because detection must be done outside the body. Effects such as scattered radiation and self-attenuation introduce errors unless properly corrected. A more serious problem when measuring small structures, such as a rim-shaped high-grade glioma, is the limited spatial resolution. The most advanced scanner, the Neuro-PET, has a resolution of 6 to 7 mm. Second, corrections are needed for backflow, including free tracer at the time of the scan that will return to the blood and "trapped" tracer that will backflow because of the presence of phosphatase. These corrections are calculated from the blood activity using nominal rate constants for 18FDG. Our study found no significant alteration in rate constants between normal and tumoral tissue. Finally, a lumped constant is needed to correct for kinetic differences between 18FDG and glucose. If there is a change in the mechanism of either membrane transport or the hexokinase reaction, the lumped constant may change. However, measurements of actual glucose utilization in tissue culture lines from six patients support the 18FDG results.
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- 1984
14. Depressed cerebellar glucose metabolism in supratentorial tumors
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Nicholas J. Patronas, L. Mansi, Giovanni Di Chiro, Paul L. Kornblith, Rodney A. Brooks, D. Bairamian, Barry H. Smith, Robert de la Paz, Henry L. Milam, Patronas, Nj, DI CHIRO, G, Smith, Bh, DE LA PAZ, R, Brooks, Ra, Milam, Hl, Kornblith, Pl, Bairamian, D, and Mansi, Luigi
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Cerebellum ,Pathology ,medicine.medical_specialty ,Thalamus ,Astrocytoma ,Biology ,Thalamic Diseases ,Temporal lobe ,Meningioma ,Mesencephalon ,Parietal Lobe ,Pons ,Glioma ,Meningeal Neoplasms ,medicine ,Humans ,Molecular Biology ,Brain Neoplasms ,General Neuroscience ,medicine.disease ,Temporal Lobe ,Frontal Lobe ,Glucose ,Hemiparesis ,medicine.anatomical_structure ,Frontal lobe ,Neurology (clinical) ,medicine.symptom ,Glioblastoma ,Tomography, Emission-Computed ,Developmental Biology - Abstract
Fifty-four patients with supratentorial tumor and one with brainstem tumor were examined with positron emission tomography (PET) using [18F]fluoro-deoxyglucose (FDG). Twenty-one of these cases had satisfactory studies of the cerebellum. Of these, 12 showed significant metabolic asymmetry between the two cerebellar hemispheres, with the rate of glucose utilization in the hemisphere contralateral to the cerebral tumor being 8-34% lower than on the ipsilateral side, as compared with a right-left asymmetry of only--1.6% +/- 2.1% standard deviation for a group of 5 normal subjects. In these 12 cases the tumor involved the sensorimotor cortex and/or the thalamus with varying degrees of hemiparesis being present. For the remaining 9 patients with no significant cerebellar metabolic asymmetry, the tumor involved regions other than the sensorimotor cortex, and unilateral motor dysfunction was not a prominent clinical feature. The correlation between cerebellar metabolic suppression and unilateral motor dysfunction observed in our cases appears to be due to impairment or interruption of the cortico-thalamo-ponto-olivo-cerebellar circuitry by either the tumor itself or by edema. These results illustrate the ability of FDG-PET scans to detect metabolic changes, not apparent on CT scans, in areas of the brain remote from the primary lesion.
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- 1984
15. Metabolic imaging of the brain stem and spinal cord: studies with positron emission tomography using 18F-2-deoxyglucose in normal and pathological cases
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Rodney A. Brooks, Barry H. Smith, Paul L. Kornblith, G. Di Chiro, L. Mansi, D. Bairamian, Richard Margolin, Nicholas J. Patronas, Edward H. Oldfield, DI CHIRO, G, Oldfield, E, Bairamian, D, Patronas, Nj, Brooks, Ra, Mansi, Luigi, Smith, Bh, Kornblith, Pl, and Margolin, R.
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Adult ,Male ,medicine.medical_specialty ,Cord ,Astrocytoma ,Deoxyglucose ,Spinal Cord Diseases ,Hematoma ,Deoxy Sugars ,medicine ,Animals ,Humans ,Radiology, Nuclear Medicine and imaging ,Spinal Cord Neoplasms ,Positron emission ,Pathological ,Aged ,Radioisotopes ,Brain Diseases ,medicine.diagnostic_test ,Brain Neoplasms ,business.industry ,Fluorine ,Glioma ,Haplorhini ,Middle Aged ,medicine.disease ,Spinal cord ,Pons ,medicine.anatomical_structure ,Spinal Cord ,Positron emission tomography ,Female ,Radiology ,Glioblastoma ,Nuclear medicine ,business ,Brain Stem ,Tomography, Emission-Computed - Abstract
A new high resolution positron emission scanner (Neuro-PET) has made possible clear visualization and quantitation of glucose metabolism in the brain stem and upper cervical cord (above C4) using 18F-2-deoxyglucose. The following mean measurements of the glucose utilization rate are based on studies of 34 normal volunteers and patients with no apparent pathology in the brain stem or cord: 5.0 +/- 1.0 (SD) mg Glu/100 g/min for the mesencephalon-upper pons, 3.2 +/- 1.0 for the pons-medulla, and 1.7 +/- 0.6 for the upper cervical cord. (The first value also includes studies done with the ECAT-II scanner.) Resolution of white-gray matter within these structures was not possible. Whenever possible, a correlation was made with autoradiographic data in monkeys, and good agreement was found. The glucose utilization in cases showing brain stem and cord pathology was altered, with marked elevation (as high as 8.2 mg/100 g/min) in cases of high-grade gliomas, and reduction in cases of low-grade gliomas and one pontine hematoma.
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- 1983
16. Cortical abnormalities in Alzheimer's disease
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G. Di Chiro, Nicholas J. Patronas, L. Mansi, Thomas N. Chase, Rodney A. Brooks, Paul Fedio, Norman L. Foster, Foster, Nl, Chase, Tn, Mansi, Luigi, Brooks, R, Fedio, P, Patronas, Nj, and DI CHIRO, G.
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Male ,medicine.medical_specialty ,Posterior parietal cortex ,Disease ,Deoxyglucose ,Degenerative disease ,Alzheimer Disease ,Fluorodeoxyglucose F18 ,Internal medicine ,Parietal Lobe ,medicine ,Premovement neuronal activity ,Humans ,Aged ,Cerebral Cortex ,Psychological Tests ,medicine.diagnostic_test ,Metabolic disorder ,Middle Aged ,medicine.disease ,Temporal Lobe ,Frontal Lobe ,Endocrinology ,medicine.anatomical_structure ,Glucose ,Neurology ,Positron emission tomography ,Cerebral cortex ,Cardiology ,Female ,Neurology (clinical) ,Occipital Lobe ,Alzheimer's disease ,Psychology ,Tomography, Emission-Computed - Abstract
Regional cerebral glucose metabolism, an index of neuronal activity, was compared in 20 patients with Alzheimer's disease and 8 age-matched normal volunteers by positron emission tomography following [18F]2-fluoro-2-deoxy-D-glucose administration. Overall cortical glucose utilization in the Alzheimer's group was 10 to 49% below that of control individuals. The posterior parietal cortex and contiguous portions of posterior temporal and anterior occipital lobes were most severely affected; frontal cortex was relatively spared. This pattern of cortical involvement is consistent with the major clinical features of Alzheimer's disease. Comparison of patients with early and more advanced dementia suggested that a substantial decline in glucose metabolism occurs before cognitive impairment becomes evident; once the patient is symptomatic, however, small additional metabolic decrements are associated with a marked deterioration in intellectual function.
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- 1984
17. Effect of moderate level X-radiation to brain on cerebral glucose utilization
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Nicholas J. Patronas, C. Kennedy, L. Mansi, G. Di Chiro, M. Ito, Ito, M, Patronas, Nj, DI CHIRO, G, Mansi, Luigi, and Kennedy, C.
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Nervous system ,Male ,Glucose utilization ,business.industry ,Deoxyglucose ,Central nervous system ,Moderate level ,Physiology ,Brain ,Rats, Inbred Strains ,Metabolism ,Rats ,White matter ,medicine.anatomical_structure ,Glucose ,Statistical significance ,medicine ,Animals ,Autoradiography ,Radiology, Nuclear Medicine and imaging ,Carbon Radioisotopes ,Nuclear medicine ,business - Abstract
The effect of x-radiation in doses used in treatment of brain malignancies has previously been established largely by histologic examination of the tissue or by observation of a deficit in function. At moderate dose levels such effects are usually delayed and are vascular in origin. We have used the 2-(/sup 14/C)deoxyglucose method for the quantitative measurement of local cerebral glucose utilization to learn whether x-radiation administered to rat brain in a dose below that which is known to result in any histologic change may nevertheless affect the brain's local rates of glucose utilization. Measurements were made 4 days and 4 weeks after exposure of groups of rats to 1500 rad. Rates of glucose utilization in 54 gray and eight white matter structures in both groups were compared with rates in sham-irradiated controls. Statistically significantly lower rates were found in 16 structures in rats 4 days after radiation and in 25 structures 4 weeks after radiation exposure. A weighted average rate for the brain as a whole was approximately 15% below that of the controls for both radiated groups, but this difference was short of being of statistical significance. It is clear from this study that the metabolic rates of somemore » brain structures are reduced following moderate doses of x-radiation.« less
18. Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
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Lehky TJ, Sackstein P, Tamura D, Quezado M, Wu T, Khan SG, Patronas NJ, Wiggs E, Brewer CC, DiGiovanna JJ, and Kraemer KH
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- DNA Repair, Humans, Neural Conduction, Retrospective Studies, Peripheral Nervous System Diseases diagnostic imaging, Peripheral Nervous System Diseases genetics, Xeroderma Pigmentosum complications, Xeroderma Pigmentosum genetics
- Abstract
Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurological degeneration. Complementation groups XP-A and XP-D are most frequently associated with neurological disorders., Design/methods: This is a retrospective review of patients with XP who were evaluated at NIH from 1986 to 2015 and had nerve conduction studies (NCS). In the complementation groups with peripheral neuropathy, further comparisons of the NCS were made with audiological, brain imaging, neuropsychological assessments that were also performed on most of the patients. Limited neuropathology of XP-A and XP-D patients were examined.., Results: The 33 patients had NCS: XP-A (9 patients), XP-C (7 patients), XP-D (10 patients), XP-E (1 patient), XP-V (4 patients), and XP-unknown (2 patients). Peripheral neuropathy based on nerve conduction studies was documented only in two complementation groups: 78% (7/9) of XP-A patients had a sensorimotor neuropathy while 50% (5/10) of XP-D patients had a sensory neuropathy only. Analysis of sural sensory nerve amplitude in both complementation groups XP-A and XP-D correlated with sensorineural hearing loss (SNHL), MRI/CT severity, and Full-scale Intelligence Quotient (IQ). Analysis of fibular motor nerve amplitude in complementation XP-A correlated with SNHL and MRI/CT severity. Limited follow-up studies showed gradual loss of NCS responses compared to an earlier and more rapid progression of the hearing loss., Conclusions: Despite similar brain imaging and audiological findings patients, XP-A and XP-D complementation groups differ in the type of neuropathy, sensorimotor versus sensory alone. A few cases suggest that sensorineural hearing loss may precede abnormal NCS in XP and therefore serve as valuable clinical indicators of XP patients that will later develop peripheral neuropathy., (© 2021. The Author(s).)
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- 2021
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19. Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program.
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Parry DM, McMaster ML, Liebsch NJ, Patronas NJ, Quezado MM, Zametkin D, Yang XR, and Goldstein AM
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- Adolescent, Adult, Aged, Child, Child, Preschool, Chordoma epidemiology, Chordoma pathology, Coccyx, Ethnicity genetics, Female, Gene Duplication, Genetic Testing, Germ-Line Mutation, Humans, Infant, Male, Middle Aged, Neoplastic Syndromes, Hereditary epidemiology, Neoplastic Syndromes, Hereditary pathology, Pedigree, SEER Program, Sacrum, Skull Base Neoplasms epidemiology, Skull Base Neoplasms pathology, Spinal Neoplasms epidemiology, Spinal Neoplasms pathology, United States epidemiology, Young Adult, Chordoma genetics, Neoplastic Syndromes, Hereditary genetics, Skull Base Neoplasms genetics, Spinal Neoplasms genetics, T-Box Domain Proteins genetics
- Abstract
Objective: To gain insight into the role of germline genetics in the development of chordoma, the authors evaluated data from 2 sets of patients with familial chordoma, those with and without a germline duplication of the T gene (T-dup+ vs T-dup-), which was previously identified as a susceptibility mechanism in some families. The authors then compared the patients with familial tumors to patients with sporadic chordoma in the US general population reported to the National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) program through 2015., Methods: Evaluation of family members included review of personal and family medical history, physical and neurological examination, and pre- and postcontrast MRI of the skull base and spine. Sixteen patients from 6 white families with chordoma had a chordoma diagnosis at family referral. Screening MR images of 35 relatives revealed clival lesions in 6, 4 of which were excised and confirmed to be chordoma. Thus, data were available for 20 patients with histologically confirmed familial chordoma. There were 1759 patients with histologically confirmed chordoma in SEER whose race was known., Results: The median age at chordoma diagnosis differed across the groups: it was lowest in T-dup+ familial patients (26.8 years, range 5.3-68.4 years); intermediate in T-dup- patients (46.2 years, range 11.8-60.1 years); and highest in SEER patients (57 years, range 0-98 years). There was a marked preponderance of skull base tumors in patients with familial chordoma (93% in T-dup+ and 83% in T-dup-) versus 38% in the SEER program (37% in white, 53% in black, and 48.5% in Asian/Pacific Islander/American Indian/Alaska Native patients). Furthermore, 29% of white and 16%-17% of nonwhite SEER patients had mobile-spine chordoma, versus no patients in the familial group. Several T-dup+ familial chordoma patients had putative second/multiple primary chordomas., Conclusions: The occurrence of young age at diagnosis, skull base presentation, or multiple primary chordomas should encourage careful review of family history for patients diagnosed with chordoma as well as screening of at-risk family members by MRI for early detection of chordoma. Furthermore, given genetic predisposition in some patients with familial chordoma, identification of a specific mutation in a family will permit surveillance to be limited to mutation carriers-and consideration should be given for imaging the entire neuraxis in any chordoma patient presenting at an early age or with a blood relative with chordoma. Finally, future studies should explore racial differences in age at diagnosis and presenting site in chordoma.
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- 2020
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20. CRH stimulation improves 18 F-FDG-PET detection of pituitary adenomas in Cushing's disease.
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Boyle J, Patronas NJ, Smirniotopoulos J, Herscovitch P, Dieckman W, Millo C, Maric D, Chatain GP, Hayes CP, Benzo S, Scott G, Edwards N, Ray Chaudhury A, Lodish MB, Sharma S, Nieman LK, Stratakis CA, Lonser RR, and Chittiboina P
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- ACTH-Secreting Pituitary Adenoma metabolism, ACTH-Secreting Pituitary Adenoma pathology, Adenoma metabolism, Adenoma pathology, Adolescent, Adult, Child, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Pituitary ACTH Hypersecretion metabolism, Pituitary ACTH Hypersecretion pathology, Sensitivity and Specificity, Young Adult, ACTH-Secreting Pituitary Adenoma diagnosis, Adenoma diagnosis, Corticotropin-Releasing Hormone metabolism, Fluorodeoxyglucose F18, Pituitary ACTH Hypersecretion diagnosis, Positron-Emission Tomography methods
- Abstract
Objective: In MRI-negative cases Cushing's disease (CD), surgeons perform a more extensive exploration of the pituitary gland, with fewer instances of hormonal remission.
18 F-fluoro-deoxy-glucose (18 F-FDG) positron emission tomography (PET) has a limited role in detecting adenomas that cause CD (corticotropinomas). Our previous work demonstrated corticotropin-releasing hormone (CRH) stimulation leads to delayed, selective glucose uptake in corticotropinomas. Here, we prospectively evaluated the utility of CRH stimulation in improving18 F-FDG-PET detection of adenomas in CD., Methods: Subjects with a likely diagnosis of CD (n = 27, 20 females) each underwent two18 F-FDG-PET studies [without and with ovine-CRH (oCRH) stimulation] on a high-resolution PET platform. Standardized-uptake-values (SUV) in the sella were calculated. Two blinded neuroradiologists independently read18 F-FDG-PET images qualitatively. Adenomas were histopathologically confirmed, analyzed for mutations in the USP8 gene and for glycolytic pathway proteins., Results: The mean-SUV of adenomas was significantly increased from baseline (3.6 ± 1.5) with oCRH administration (3.9 ± 1.7; one-tailed p = 0.003). Neuroradiologists agreed that adenomas were visible on 21 scans, not visible on 26 scans (disagreed about 7, kappa = 0.7). oCRH-stimulation led to the detection of additional adenomas (n = 6) not visible on baseline-PET study. Of the MRI-negative adenomas (n = 5), two were detected on PET imaging (one only after oCRH-stimulation). USP8 mutations or glycolytic pathway proteins were not associated with SUV in corticotropinomas., Conclusions: The results of the current study suggest that oCRH-stimulation may lead to increased18 F-FDG uptake, and increased rate of detection of corticotropinomas in CD. These results also suggest that some MRI invisible adenomas may be detectable by oCRH-stimulated FDG-PET imaging., Clinical Trial Information:18 F-FDG-PET imaging with and without CRH stimulation was performed under the clinical trial NIH ID 12-N-0007 (clinicaltrials.gov identifier NCT01459237). The transsphenoidal surgeries and post-operative care was performed under the clinical trial NIH ID 03-N-0164 (clinicaltrials.gov identifier NCT00060541).- Published
- 2019
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21. Origin of Syrinx Fluid in Syringomyelia: A Physiological Study.
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Heiss JD, Jarvis K, Smith RK, Eskioglu E, Gierthmuehlen M, Patronas NJ, Butman JA, Argersinger DP, Lonser RR, and Oldfield EH
- Subjects
- Adult, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Subarachnoid Space diagnostic imaging, Subarachnoid Space pathology, Cerebrospinal Fluid diagnostic imaging, Syringomyelia cerebrospinal fluid, Syringomyelia diagnostic imaging, Syringomyelia pathology
- Abstract
Background: The origin of syrinx fluid is controversial., Objective: To elucidate the mechanisms of syringomyelia associated with cerebrospinal fluid pathway obstruction and with intramedullary tumors, contrast transport from the spinal subarachnoid space (SAS) to syrinx was evaluated in syringomyelia patients., Methods: We prospectively studied patients with syringomyelia: 22 with Chiari I malformation and 16 with SAS obstruction-related syringomyelia before and 1 wk after surgery, and 9 with tumor-related syringomyelia before surgery only. Computed tomography-myelography quantified dye transport into the syrinx before and 0.5, 2, 4, 6, 8, 10, and 22 h after contrast injection by measuring contrast density in Hounsfield units (HU)., Results: Before surgery, more contrast passed into the syrinx in Chiari I malformation-related syringomyelia and spinal obstruction-related syringomyelia than in tumor-related syringomyelia, as measured by (1) maximum syrinx HU, (2) area under the syrinx concentration-time curve (HU AUC), (3) ratio of syrinx HU to subarachnoid cerebrospinal fluid (CSF; SAS) HU, and (4) AUC syrinx/AUC SAS. More contrast (AUC) accumulated in the syrinx and subarachnoid space before than after surgery., Conclusion: Transparenchymal bulk flow of CSF from the subarachnoid space to syrinx occurs in Chiari I malformation-related syringomyelia and spinal obstruction-related syringomyelia. Before surgery, more subarachnoid contrast entered syringes associated with CSF pathway obstruction than with tumor, consistent with syrinx fluid originating from the subarachnoid space in Chiari I malformation and spinal obstruction-related syringomyelia and not from the subarachnoid space in tumor-related syringomyelia. Decompressive surgery opened subarachnoid CSF pathways and reduced contrast entry into syringes associated with CSF pathway obstruction.
- Published
- 2019
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22. "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.
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Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, and Masdeu JC
- Subjects
- Adult, Corpus Callosum diagnostic imaging, Female, Humans, Male, Observer Variation, ROC Curve, Reproducibility of Results, Retrospective Studies, Sensitivity and Specificity, Young Adult, Magnetic Resonance Imaging methods, Retinal Degeneration diagnostic imaging, Spastic Paraplegia, Hereditary diagnostic imaging
- Abstract
Background and Purpose: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing Spastic Paraplegia type 11 (SPG11). This sign corresponds to long T1 and T2 values in the forceps minor of the corpus callosum, which appears hyperintense on FLAIR and hypointense on T1-weighted images. Our purpose was to determine the sensitivity and specificity of the ears of the lynx MR imaging sign for genetic cases compared with common potential mimics., Materials and Methods: Four independent raters, blinded to the diagnosis, determined whether the ears of the lynx sign was present in each of a set of 204 single anonymized FLAIR and T1-weighted MR images from 34 patients with causal mutations associated with SPG11 or Spastic Paraplegia type 15 (SPG15). 34 healthy controls, and 34 patients with multiple sclerosis., Results: The interrater reliability for FLAIR images was substantial (Cohen κ, 0.66-0.77). For these images, the sensitivity of the ears of the lynx sign across raters ranged from 78.8 to 97.0 and the specificity ranged from 90.9 to 100. The accuracy of the sign, measured by area under the receiver operating characteristic curve, ranged from very good (87.1) to excellent (93.9)., Conclusions: The ears of the lynx sign on FLAIR MR imaging is highly specific for the most common genetic subtypes of hereditary spastic paraplegia with a thin corpus callosum. When this sign is present, there is a high likelihood of a genetic mutation, particularly associated with SPG11 or SPG15, even in the absence of a family history., (© 2019 by American Journal of Neuroradiology.)
- Published
- 2019
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23. Eccrine spiradenoma mimicking a painful traumatic neuroma: case report.
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Donaldson K, Scott G, Cantor FK, Patronas NJ, Quezado M, and Heiss JD
- Subjects
- Adenoma, Sweat Gland diagnosis, Adenoma, Sweat Gland pathology, Adult, Diagnosis, Differential, Female, Follow-Up Studies, Humans, Hyperalgesia diagnosis, Hyperalgesia pathology, Magnetic Resonance Imaging, Microsurgery methods, Neuroma diagnosis, Neuroma pathology, Reoperation, Sweat Gland Neoplasms diagnosis, Sweat Gland Neoplasms pathology, Wrist pathology, Young Adult, Adenoma, Sweat Gland surgery, Hyperalgesia surgery, Neuroma surgery, Sweat Gland Neoplasms surgery, Wrist surgery, Wrist Injuries complications
- Abstract
Diagnosing and treating patients with persistent neuropathic pain associated with peripheral nerve lesions can be challenging. The authors report the rare case of a painful eccrine spiradenoma treated as a traumatic neuroma for many years because of a history of acute trauma, the presence of a tender palpable mass, and symptoms of allodynia. Surgical excision of the neoplasm completely relieved the pain and hypersensitivity that 2 prior surgeries and other nonsurgical treatments failed to resolve. The diagnosis of eccrine spiradenoma was not established until resection and histopathological analysis of the tissue. This case highlights the need to develop and consider an extensive list of differential diagnoses, including eccrine spiradenoma, for peripheral nerve lesions that fail to respond to treatment.
- Published
- 2018
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24. 18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement.
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Papadakis GZ, Jha S, Bhattacharyya T, Millo C, Tu TW, Bagci U, Marias K, Karantanas AH, and Patronas NJ
- Subjects
- Aged, Female, Humans, Whole Body Imaging, Bone and Bones diagnostic imaging, Fluorine Radioisotopes, Melorheostosis complications, Melorheostosis diagnostic imaging, Positron Emission Tomography Computed Tomography, Sodium Fluoride, Soft Tissue Neoplasms complications
- Abstract
Melorheostosis is a rare, nonhereditary, benign, sclerotic bone dysplasia with no sex predilection, typically occurring in late childhood or early adulthood, which can lead to substantial functional morbidity, depending on the sites of involvement. We report on a patient with extensive melorheostosis in the axial and appendicular skeleton, as well as in the soft tissues, who was evaluated with whole-body F-NaF PET/CT scan. All melorheostotic lesions of the skeleton and of the ossified soft-tissue masses demonstrated intensely increased F-NaF activity, suggesting the application of this modality in assessing and monitoring the disease activity.
- Published
- 2017
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25. Avascular Necrosis of the Hips With Increased Activity on 68Ga-DOTATATE PET/CT.
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Papadakis GZ, Millo C, Karantanas AH, Bagci U, and Patronas NJ
- Subjects
- Female, Hip diagnostic imaging, Humans, Hydrocortisone adverse effects, Middle Aged, Osteonecrosis etiology, Organometallic Compounds, Osteonecrosis diagnostic imaging, Positron Emission Tomography Computed Tomography, Radiopharmaceuticals
- Abstract
Prolonged exposure to cortisol is one of the major causes of avascular bone necrosis (AVN). We report on a case of a woman with Cushing syndrome attributed to ectopic adrenocorticotropic hormone-secreting tumor who was evaluated with whole-body PET/CT study using Ga-DOTATATE. The scan showed increased activity by both femoral heads, corresponding to the margins of bilateral AVN seen on MRI. The presented data suggests AVN-induced reactive inflammatory alterations adjacent to the necrotic segment of the bone, which can be effectively targeted using radiolabeled somatostatin (SST) analogs.
- Published
- 2017
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26. 18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma.
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Papadakis GZ, Millo C, Jassel IS, Bagci U, Sadowski SM, Karantanas AH, and Patronas NJ
- Subjects
- Adult, Fluorodeoxyglucose F18, Gallium Radioisotopes, Hemangioblastoma metabolism, Humans, Magnetic Resonance Imaging, Male, Organometallic Compounds, Positron Emission Tomography Computed Tomography, Radiopharmaceuticals, Receptors, Somatostatin metabolism, Retinal Neoplasms metabolism, von Hippel-Lindau Disease genetics, von Hippel-Lindau Disease metabolism, Hemangioblastoma diagnostic imaging, Retinal Neoplasms diagnostic imaging, von Hippel-Lindau Disease diagnostic imaging
- Abstract
Retinal hemangioblastomas are highly vascular benign tumors that can be encountered either sporadically or within the von Hippel-Lindau (VHL) syndrome. We report a case of a VHL patient with retinal hemangioblastoma who underwent PET/CT scans using F-FDG and Ga-DOTATATE. The tumor showed low-level F-FDG and increased Ga-DOTATATE activity, suggesting cell-surface overexpression of somatostatin receptors. The presented case indicates the clinical applications of somatostatin receptor imaging with Ga-DOTA-conjugated peptides in detection and follow-up of VHL manifestations, screening of asymptomatic gene carriers, and in diagnosis of sporadic retinal hemangioblastomas, which may have similar features on MRI with other retinal tumors.
- Published
- 2017
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27. Fibrous Dysplasia Mimicking Malignancy on 68Ga-DOTATATE PET/CT.
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Papadakis GZ, Millo C, Sadowski SM, Karantanas AH, Bagci U, and Patronas NJ
- Subjects
- Aged, Diagnosis, Differential, Humans, Male, Fibrous Dysplasia of Bone diagnostic imaging, Neuroendocrine Tumors diagnostic imaging, Organometallic Compounds, Positron Emission Tomography Computed Tomography, Radiopharmaceuticals
- Abstract
Fibrous dysplasia of the bone is a developmental benign skeletal disorder characterized by replacement of normal bone and normal bone marrow with abnormal fibro-osseous tissue. We report on a case of a biopsy-proven fibrous dysplasia lesion in the left temporal bone, with intensely increased activity (SUVmax, 56.7) on Ga-DOTATATE PET/CT. The presented data indicate cell surface overexpression of somatostatin receptors by fibrous dysplastic cells and highlight the need of cautious management of Ga-DOTATATE-avid bone lesions, which could mimic malignancy especially in patients with history of neuroendocrine tumors.
- Published
- 2017
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28. Breast Fibroadenoma With Increased Activity on 68Ga DOTATATE PET/CT.
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Papadakis GZ, Millo C, Sadowski SM, Karantanas AH, Bagci U, and Patronas NJ
- Subjects
- Adult, Female, Humans, Organometallic Compounds, Radiopharmaceuticals, Breast Neoplasms diagnostic imaging, Fibroadenoma diagnostic imaging, Neuroendocrine Tumors diagnostic imaging, Positron Emission Tomography Computed Tomography
- Abstract
Fibroadenoma is the most common benign breast tumor in women of reproductive age, carrying little to no risk of breast cancer development. We report on a case of a woman with history of neuroendocrine tumor who on follow-up imaging tests underwent whole-body PET/CT study using Ga DOTATATE. The scan showed increased focal activity in the right breast, which was biopsied revealing a fibroadenoma. The presented data suggests cell surface overexpression of somatostatin receptors by this benign breast tumor. Moreover, this finding emphasizes the need for cautious interpretation of Ga DOTATATE-avid breast lesions that could mimic malignancy in neuroendocrine tumor patients.
- Published
- 2017
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29. Case 1: Poor Growth With Presence of a Pituitary Lesion in an 11-year-old Boy.
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Karageorgiadis AS, Lyssikatos C, Belyavskaya E, Papadakis GZ, Patronas NJ, Lodish MB, and Stratakis CA
- Subjects
- Child, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male, Pituitary Gland pathology, Growth Disorders etiology, Pituitary Neoplasms pathology, Prolactinoma pathology
- Published
- 2017
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30. Reply: 68Ga-DOTATATE PET/CT Versus MRI: Why the Comparison of 68Ga-DOTATATE PET/CT to an Appropriate MRI Protocol Is Essential.
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Taïeb D, Patronas NJ, and Pacak K
- Subjects
- Magnetic Resonance Imaging, Positron Emission Tomography Computed Tomography, Organometallic Compounds
- Published
- 2017
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31. Kidney Tumor in a von Hippel-Lindau (VHL) Patient With Intensely Increased Activity on 68Ga-DOTA-TATE PET/CT.
- Author
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Papadakis GZ, Millo C, Sadowski SM, Bagci U, and Patronas NJ
- Subjects
- Humans, Magnetic Resonance Imaging, Male, Middle Aged, Kidney Neoplasms diagnostic imaging, Organometallic Compounds, Positron Emission Tomography Computed Tomography, Radiopharmaceuticals, von Hippel-Lindau Disease diagnostic imaging
- Abstract
Renal and pancreatic cysts and tumors are the most common visceral manifestations of von Hippel-Lindau (VHL) disease, a heritable multisystem cancer syndrome characterized by development of a variety of malignant and benign tumors. We report a case of a VHL patient with multiple renal cystic and complex cystic/solid lesions. The patient underwent Ga-DOTA-TATE-PET/CT showing intensely increased activity by a solid lesion which demonstrated enhancement on both CT and MRI scans, raising high suspicion for malignancy. The presented case indicates application of SSTR-imaging using Ga-DOTA-conjugated peptides in VHL-patients and emphasizes the need for cautious interpretation of renal parenchyma Ga-DOTATATE activity.
- Published
- 2016
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32. Adrenal cryptococcosis in an immunosuppressed patient showing intensely increased metabolic activity on 18 F-FDG PET/CT.
- Author
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Papadakis GZ, Holland SM, Quezado M, and Patronas NJ
- Subjects
- Adult, Fluorodeoxyglucose F18, Humans, Immunosuppression Therapy, Male, Positron Emission Tomography Computed Tomography, Adrenal Gland Diseases diagnostic imaging, Cryptococcosis diagnostic imaging
- Abstract
Disseminated cryptococcosis most commonly occurs in immunosuppressed patients and can rarely affect the adrenal glands. We report on a patient with biopsy proven bilateral adrenal cryptococcosis resulting in primary adrenal insufficiency, which was evaluated with whole-body positron emission tomography/computed tomography scan using
18 F-FDG. Both enlarged adrenal glands presented intensely increased18 F-FDG activity in the periphery, while central necrotic regions were photopenic. Although diagnosis was established by adrenal gland biopsy,18 F-FDG positron emission tomography/computed tomography scan can significantly contribute to the assessment of disease activity and monitoring of treatment response. Furthermore, fungal infections should always be considered when encountering hypermetabolic adrenal masses, especially in the setting of immunodeficient patients., Competing Interests: The authors declare that they have no conflict of interest.- Published
- 2016
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33. Endolymphatic Sac Tumor Showing Increased Activity on 68Ga DOTATATE PET/CT.
- Author
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Papadakis GZ, Millo C, Sadowski SM, Bagci U, and Patronas NJ
- Subjects
- Ear Neoplasms complications, Humans, Male, Middle Aged, Organometallic Compounds, Radiopharmaceuticals, von Hippel-Lindau Disease complications, Ear Neoplasms diagnostic imaging, Endolymphatic Sac diagnostic imaging, Positron Emission Tomography Computed Tomography, von Hippel-Lindau Disease diagnostic imaging
- Abstract
Endolymphatic sac tumors (ELSTs) are rare tumors arising from the epithelium of the endolymphatic sac and duct that can be either sporadic or associated with von Hippel-Lindau (VHL) disease. We report a case of a VHL patient with histologically proven residual ELST who underwent Ga DOTATATE PET/CT showing increased activity (SUVmax, 6.29) by the ELST. The presented case of a VHL-associated ELST with increased Ga DOTATATE uptake indicates cell-surface expression of somatostatin receptors by this tumor, suggesting the potential application of somatostatin receptor imaging using Ga DOTA-conjugated peptides in the workup and management of these patients.
- Published
- 2016
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34. Epididymal Cystadenomas in von Hippel-Lindau Disease Showing Increased Activity on 68Ga DOTATATE PET/CT.
- Author
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Papadakis GZ, Millo C, Sadowski SM, Bagci U, and Patronas NJ
- Subjects
- Humans, Male, Middle Aged, Organometallic Compounds, Radiopharmaceuticals, Cystadenoma diagnostic imaging, Positron Emission Tomography Computed Tomography, Spermatocele diagnostic imaging, von Hippel-Lindau Disease diagnostic imaging
- Abstract
von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by the development of a variety of malignant and benign tumors, including epididymal cystadenomas. We report a case of a VHL patient with bilateral epididymal cystadenomas who was evaluated with Ga DOTATATE PET/CT, showing intensely increased activity (SUVmax, 21.6) associated with the epididymal cystadenomas, indicating cell-surface overexpression of somatostatin receptors. The presented case supports the usefulness of somatostatin receptor imaging using Ga DOTA-conjugated peptides for detection and follow-up of VHL manifestations, as well as surveillance of asymptomatic gene carriers.
- Published
- 2016
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35. Predicting clinical outcomes in chordoma patients receiving immunotherapy: a comparison between volumetric segmentation and RECIST.
- Author
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Fenerty KE, Folio LR, Patronas NJ, Marté JL, Gulley JL, and Heery CR
- Subjects
- Adult, Aged, Aged, 80 and over, Chordoma immunology, Chordoma therapy, Female, Follow-Up Studies, Humans, Lymph Nodes immunology, Male, Middle Aged, Neoplasm Staging, Prognosis, Retrospective Studies, Survival Rate, Tumor Burden, Chordoma pathology, Immunotherapy, Lymph Nodes pathology, Response Evaluation Criteria in Solid Tumors
- Abstract
Background: The Response Evaluation Criteria in Solid Tumors (RECIST) are the current standard for evaluating disease progression or therapy response in patients with solid tumors. RECIST 1.1 calls for axial, longest-diameter (or perpendicular short axis of lymph nodes) measurements of a maximum of five tumors, which limits clinicians' ability to adequately measure disease burden, especially in patients with irregularly shaped tumors. This is especially problematic in chordoma, a disease for which RECIST does not always adequately capture disease burden because chordoma tumors are typically irregularly shaped and slow-growing. Furthermore, primary chordoma tumors tend to be adjacent to vital structures in the skull or sacrum that, when compressed, lead to significant clinical consequences., Methods: Volumetric segmentation is a newer technology that allows tumor burden to be measured in three dimensions on either MR or CT. Here, we compared the ability of RECIST measurements and tumor volumes to predict clinical outcomes in a cohort of 21 chordoma patients receiving immunotherapy., Results: There was a significant difference in radiologic time to progression Kaplan-Meier curves between clinical outcome groups using volumetric segmentation (P = 0.012) but not RECIST (P = 0.38). In several cases, changes in volume were earlier and more sensitive reflections of clinical status., Conclusion: RECIST is a useful evaluation method when obvious changes are occurring in patients with chordoma. However, in many cases, RECIST does not detect small changes, and volumetric assessment was capable of detecting changes and predicting clinical outcome earlier than RECIST. Although this study was small and retrospective, we believe our results warrant further research in this area.
- Published
- 2016
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36. Multiple Endocrine Neoplasia, Type 1: Imaging Solutions to Clinical Questions.
- Author
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Knaus CM, Patronas NJ, Papadakis GZ, Short TK, and Smirniotopoulos JG
- Subjects
- Humans, Islets of Langerhans diagnostic imaging, Parathyroid Glands diagnostic imaging, Pituitary Gland diagnostic imaging, Diagnostic Imaging methods, Multiple Endocrine Neoplasia Type 1 diagnostic imaging
- Abstract
The common clinical presentations of multiple endocrine neoplasia, type 1 (MEN1) often lead to predictable clinical questions that can be answered with imaging. From pituitary adenomas to parathyroid adenoms and pancreaticoduodenal neuroendocrine tumors, the multiple faces of MEN1 require an understanding of the basic disease characteristics and an understanding of multiple imaging modalities. We attempt to provide the reader with a basic understanding of the common clinical questions raised by patients with MEN1 and how radiologists can provide critical management information., (Published by Elsevier Inc.)
- Published
- 2016
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37. Resources Required for Semi-Automatic Volumetric Measurements in Metastatic Chordoma: Is Potentially Improved Tumor Burden Assessment Worth the Time Burden?
- Author
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Fenerty KE, Patronas NJ, Heery CR, Gulley JL, and Folio LR
- Subjects
- Chordoma pathology, Chordoma secondary, Humans, Retrospective Studies, Time Factors, Chordoma diagnostic imaging, Diagnostic Imaging statistics & numerical data, Tumor Burden
- Abstract
The Response Evaluation Criteria in Solid Tumors (RECIST) is the current standard for assessing therapy response in patients with malignant solid tumors; however, volumetric assessments are thought to be more representative of actual tumor size and hence superior in predicting patient outcomes. We segmented all primary and metastatic lesions in 21 chordoma patients for comparison to RECIST. Primary tumors were segmented on MR and validated by a neuroradiologist. Metastatic lesions were segmented on CT and validated by a general radiologist. We estimated times for a research assistant to segment all primary and metastatic chordoma lesions using semi-automated volumetric segmentation tools available within our PACS (v12.0, Carestream, Rochester, NY), as well as time required for radiologists to validate the segmentations. We also report success rates of semi-automatic segmentation in metastatic lesions on CT and time required to export data. Furthermore, we discuss the feasibility of volumetric segmentation workflow in research and clinical settings. The research assistant spent approximately 65 h segmenting 435 lesions in 21 patients. This resulted in 1349 total segmentations (average 2.89 min per lesion) and over 13,000 data points. Combined time for the neuroradiologist and general radiologist to validate segmentations was 45.7 min per patient. Exportation time for all patients totaled only 6 h, providing time-saving opportunities for data managers and oncologists. Perhaps cost-neutral resource reallocation can help acquire volumes paralleling our example workflow. Our results will provide researchers with benchmark resources required for volumetric assessments within PACS and help prepare institutions for future volumetric assessment criteria.
- Published
- 2016
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38. 68Ga-DOTATATE PET/CT in the Localization of Head and Neck Paragangliomas Compared with Other Functional Imaging Modalities and CT/MRI.
- Author
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Janssen I, Chen CC, Taieb D, Patronas NJ, Millo CM, Adams KT, Nambuba J, Herscovitch P, Sadowski SM, Fojo AT, Buchmann I, Kebebew E, and Pacak K
- Subjects
- Adult, Aged, Dihydroxyphenylalanine analogs & derivatives, Female, Fluorodeoxyglucose F18, Head and Neck Neoplasms genetics, Head and Neck Neoplasms pathology, Humans, Male, Middle Aged, Multimodal Imaging, Paraganglioma genetics, Paraganglioma pathology, Prospective Studies, Succinate Dehydrogenase genetics, Head and Neck Neoplasms diagnostic imaging, Magnetic Resonance Imaging methods, Organometallic Compounds, Paraganglioma diagnostic imaging, Positron-Emission Tomography methods, Radiopharmaceuticals, Tomography, X-Ray Computed methods
- Abstract
Unlabelled: Pheochromocytomas/paragangliomas overexpress somatostatin receptors, and recent studies have already shown excellent results in the localization of sympathetic succinate dehydrogenase complex, subunit B, mutation-related metastatic pheochromocytomas/paragangliomas using (68)Ga-DOTATATE PET/CT. Therefore, the goal of our study was to assess the clinical utility of this functional imaging modality in parasympathetic head and neck paragangliomas (HNPGLs) compared with anatomic imaging with CT/MRI and other functional imaging modalities, including (18)F-fluorohydroyphenylalanine ((18)F-FDOPA) PET/CT, currently the gold standard in the functional imaging of HNPGLs., Methods: (68)Ga-DOTATATE PET/CT was prospectively performed in 20 patients with HNPGLs. All patients also underwent (18)F-FDOPA PET/CT, (18)F-FDG PET/CT, and CT/MRI, with 18 patients also undergoing (18)F-fluorodopamine ((18)F-FDA) PET/CT. (18)F-FDOPA PET/CT and CT/MRI served as the imaging comparators., Results: Thirty-eight lesions in 20 patients were detected, with (18)F-FDOPA PET/CT identifying 37 of 38 and CT/MRI identifying 23 of 38 lesions (P < 0.01). All 38 and an additional 7 lesions (P = 0.016) were detected on (68)Ga-DOTATATE PET/CT. Significantly fewer lesions were identified by (18)F-FDG PET/CT (24/38, P < 0.01) and (18)F-FDA PET/CT (10/34, P < 0.01)., Conclusion: (68)Ga-DOTATATE PET/CT identified more lesions than other imaging modalities. With the results of the present study, and the increasing availability and use of DOTA analogs in the therapy of neuroendocrine tumors, we expect that (68)Ga-DOTATATE PET/CT will become the preferred functional imaging modality for HNPGLs in the near future., (© 2016 by the Society of Nuclear Medicine and Molecular Imaging, Inc.)
- Published
- 2016
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39. Pituitary abnormalities in patients with Fanconi anaemia.
- Author
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Kanakatti Shankar R, Giri N, Lodish MB, Butman JA, Patronas NJ, Sinaii N, Keil M, Alter BP, and Stratakis CA
- Published
- 2016
- Full Text
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40. Talc Pleurodesis With Intense 18F-FDG Activity But No 68Ga-DOTA-TATE Activity on PET/CT.
- Author
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Papadakis GZ, Millo C, Bagci U, Patronas NJ, and Stratakis CA
- Subjects
- Female, Fluorodeoxyglucose F18, Humans, Middle Aged, Organometallic Compounds, Pleural Effusion therapy, Radiopharmaceuticals, Multimodal Imaging, Pleural Effusion diagnostic imaging, Pleurodesis, Positron-Emission Tomography, Talc administration & dosage, Tomography, X-Ray Computed
- Abstract
Talc pleurodesis (TP) is a technique, widely employed in the management of patients with persistent pleural effusions or pneumothoraces not amenable to other treatment options. It is well documented that talc deposits produce areas of highly increased F-FDG uptake, because of talc-induced inflammation. We present a case of a patient with history of TP who was evaluated with both F-FDG and Ga-DOTA-TATE. The hypermetabolic area seen on F-FDG-PET-CT in the region of talc placement showed no uptake by Ga-DOTA-TATE, suggesting the potential role of Ga-DOTA-TATE-PET-CT in elucidating F-FDG-postitive lesions in patients with history of both neuroendocrine malignancy and TP.
- Published
- 2015
- Full Text
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41. Preoperative Imaging Features are Associated with Surgical Complications Following Carotid Body Tumor Resection.
- Author
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Straughan DM, Neychev VK, Sadowski SM, Ellis RJ, Thomas F, Patronas NJ, Pacak K, Kebebew E, and Nilubol N
- Subjects
- Adolescent, Adult, Aged, Carotid Artery, Internal pathology, Carotid Body Tumor pathology, Carotid Body Tumor surgery, Cohort Studies, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Odontoid Process diagnostic imaging, Odontoid Process pathology, Retrospective Studies, Time Factors, Tomography, X-Ray Computed, Treatment Outcome, Tumor Burden, Young Adult, Carotid Artery Injuries epidemiology, Carotid Artery, Internal diagnostic imaging, Carotid Body Tumor diagnostic imaging, Cranial Nerve Injuries epidemiology, Intraoperative Complications epidemiology, Vascular Surgical Procedures adverse effects
- Abstract
Background: Surgical resection remains the treatment of choice for carotid body tumors (CBTs). Although perioperative complications such as carotid artery injury and neurological deficits occur infrequently, they can be devastating. The aim of this study was to evaluate whether clinical factors or preoperative imaging findings can accurately predict perioperative complications., Methods: Twenty CBTs were resected from 19 patients. Preoperative computed tomography (CT) and magnetic resonance imaging (MRI) of the neck were used to measure the degree of circumferential involvement of the CBT to the internal carotid artery (ICA), carotid artery narrowing, tumor length, tumor volume, and the distance from the tip of the C2 dens to the superior aspect of the CBT (dens-CBT). Operative reports and Shamblin classification (I-III) of each tumor were independently reviewed. Preoperative imaging features were compared to perioperative cranial nerve injury (CNI), rates of carotid artery injury, and major carotid artery repairs, as well as Shamblin classifications≥II., Results: CNI was associated with a high-lying CBT (dens-CBT=1.8 vs. 2.9 cm, p<0.01). All four patients with CNI had a dens-CBT of <3 cm. Neither tumor length and tumor volume nor the involvement of the ICA (≥180° as measured by CT or MRI) was associated with CNI, carotid artery injury, major carotid artery repair, or Shamblin II or III classification. No carotid artery narrowing was observed in any of the cases., Conclusions: Preoperative measurement of the dens-CBT is helpful in identifying CBTs at risk for CNI after surgical resection.
- Published
- 2015
- Full Text
- View/download PDF
42. Ectopic ACTH and CRH Co-secreting Tumor Localized by 68Ga-DOTA-TATE PET/CT.
- Author
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Papadakis GZ, Bagci U, Sadowski SM, Patronas NJ, and Stratakis CA
- Subjects
- Adrenocorticotropic Hormone metabolism, Corticotropin-Releasing Hormone metabolism, Cushing Syndrome complications, Fluorodeoxyglucose F18, Humans, Male, Multimodal Imaging, Neuroendocrine Tumors complications, Radiopharmaceuticals, Thymus Neoplasms complications, Young Adult, Cushing Syndrome diagnostic imaging, Neuroendocrine Tumors diagnostic imaging, Organometallic Compounds, Positron-Emission Tomography, Thymus Neoplasms diagnostic imaging, Tomography, X-Ray Computed
- Abstract
Diagnosis of ectopic adrenocorticotropic hormone (ACTH) and corticotropin-releasing hormone (CRH) co-secreting tumors causing Cushing syndrome (CS) is challenging because these tumors are rare and their diagnosis is frequently confused with Cushing disease (CD), caused by the effect of CRH on the pituitary. We report a case of a 21-year-old male patient who was referred to our institution with persistent hypercortisolemia and CS after undergoing unnecessary transsphenoidal surgery (TSS). ⁶⁸Ga-DOTA-TATE PET/CT revealed increased tracer uptake in the thymus, which was histologically proven to be a neuroendocrine tumor (NET) that stained positive for ACTH and CRH. Imaging with ¹⁸F-FDG PET/CT was not diagnostic.
- Published
- 2015
- Full Text
- View/download PDF
43. Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad.
- Author
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Papadakis GZ, Patronas NJ, Chen CC, Carney JA, and Stratakis CA
- Subjects
- Adult, Chondroma pathology, Female, Humans, Leiomyosarcoma pathology, Liver Neoplasms secondary, Lung Neoplasms pathology, Magnetic Resonance Imaging, Multimodal Imaging, Paraganglioma, Extra-Adrenal pathology, Positron-Emission Tomography, Stomach Neoplasms pathology, Tomography, X-Ray Computed, Chondroma diagnostic imaging, Dihydroxyphenylalanine analogs & derivatives, Fluorodeoxyglucose F18, Leiomyosarcoma diagnostic imaging, Liver Neoplasms diagnostic imaging, Lung Neoplasms diagnostic imaging, Paraganglioma, Extra-Adrenal diagnostic imaging, Radiopharmaceuticals, Stomach Neoplasms diagnostic imaging
- Abstract
Carney triad is a rare syndrome involving gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma. We present a 21-year-old woman with the complete triad who was evaluated with MRI, F-FDOPA, F-FDA, and F-FDG. F-FDOPA best demonstrated the paraganglioma, whereas hepatic metastases noted by MRI demonstrated increased uptake only by F-FDG.
- Published
- 2015
- Full Text
- View/download PDF
44. Ectopic adrenocorticotropic hormone and corticotropin-releasing hormone co-secreting tumors in children and adolescents causing cushing syndrome: a diagnostic dilemma and how to solve it.
- Author
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Karageorgiadis AS, Papadakis GZ, Biro J, Keil MF, Lyssikatos C, Quezado MM, Merino M, Schrump DS, Kebebew E, Patronas NJ, Hunter MK, Alwazeer MR, Karaviti LP, Balazs AE, Lodish MB, and Stratakis CA
- Subjects
- ACTH Syndrome, Ectopic complications, Adolescent, Adrenocorticotropic Hormone blood, Adrenocorticotropic Hormone urine, Child, Cushing Syndrome etiology, Diagnosis, Differential, Female, Humans, Hydrocortisone blood, Hydrocortisone urine, Liver Neoplasms complications, Liver Neoplasms diagnosis, Male, Pancreatic Neoplasms complications, Pancreatic Neoplasms diagnosis, Thymus Neoplasms complications, Thymus Neoplasms diagnosis, ACTH Syndrome, Ectopic diagnosis, Cushing Syndrome diagnosis, Liver Neoplasms metabolism, Pancreatic Neoplasms metabolism, Pituitary ACTH Hypersecretion diagnosis, Thymus Neoplasms metabolism
- Abstract
Context: Ectopic ACTH/CRH syndrome is a rare cause of Cushing syndrome (CS), especially in children. The localization, work-up, and management of ACTH/CRH-secreting tumors are discussed., Setting: A retrospective study was conducted of patients under 21 years of age evaluated at the National Institutes of Health (NIH) for CS and diagnosed with ectopic ACTH/CRH-secreting tumors during the period 2009-2014., Patients: Seven patients with ectopic ACTH/CRH CS are included in this study with a median age 13.6 years (range 1-21), and 3 are female., Measurements: Clinical, biochemical, radiological features, treatment, and histological findings are described., Results: Seven patients were found to have ACTH/CRH-secreting tumors, all with neuroendocrine features. The site of the primary lesion varied: pancreas (3), thymus (2), liver (1), right lower pulmonary lobe (1). PATIENTS underwent biochemical evaluation for CS, including diurnal serum cortisol and ACTH levels, urinary free cortisol levels (UFC), and CRH stimulation tests. All patients underwent radiological investigations including MRI, CT, and PET scan; imaging with octreotide and 68 gallium DOTATATE scans were performed in individual cases. Five patients underwent inferior petrosal sinus sampling; 4 patients had sampling for ACTH and CRH levels from additional sites. Three patients underwent trans-sphenoidal surgery (TSS), and 3 patients required bilateral adrenalectomy. Three patients (43%) died due to metastatic disease, demonstrating the high mortality rate. One of the unique findings in these seven patients is that in each case, their neuroendocrine tumors were ultimately proven to be co-secreting ACTH and CRH. This explains the enigmatic presentation, in which 3 patients initially thought to have Cushing's disease (CD) with corresponding pituitary hyperplasia underwent TSS prior to the correct localization of the causative tumor., Conclusions: Ectopic ACTH/CRH co-secreting tumors are extremely rare in children and adolescents. The diagnosis of this condition is frequently missed and is sometimes confused with CD due to the effect of CRH on the pituitary.
- Published
- 2015
- Full Text
- View/download PDF
45. Multifocal dysembryoplastic neuroepithelial tumours associated with refractory epilepsy.
- Author
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Yang AI, Khawaja AM, Ballester-Fuentes L, Pack SD, Abdullaev Z, Patronas NJ, Inati SK, Theodore WH, Quezado MM, and Zaghloul KA
- Subjects
- Brain Neoplasms pathology, Epilepsy pathology, Humans, Male, Neoplasms, Neuroepithelial pathology, Seizures pathology, Young Adult, Brain Neoplasms complications, Epilepsy etiology, Neoplasms, Neuroepithelial complications, Seizures etiology, Temporal Lobe pathology
- Abstract
Dysembryoplastic neuroepithelial tumours (DNET) are a common cause of tumour-associated epilepsy, and are usually located in the temporal lobes. We present a case of multifocal DNETs in both infra- and supra-tentorial locations, in a 23-year-old man with a coincident Type I Chiari malformation, presenting with medically refractory focal seizures. The extensive anatomical distribution of the lesions suggests a genetic component in their tumourigenesis.
- Published
- 2014
- Full Text
- View/download PDF
46. State of art imaging of the pituitary tumors.
- Author
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Patronas NJ and Liu CY
- Subjects
- Humans, Magnetic Resonance Imaging methods, Pituitary Neoplasms diagnosis, Pituitary Neoplasms pathology
- Published
- 2014
- Full Text
- View/download PDF
47. Early-onset stroke and vasculopathy associated with mutations in ADA2.
- Author
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Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, and Aksentijevich I
- Subjects
- Age of Onset, Animals, Disease Models, Animal, Endothelium, Vascular pathology, Female, Fever genetics, Humans, Male, Pedigree, Polyarteritis Nodosa genetics, Sequence Analysis, DNA, Skin pathology, Vasculitis genetics, Vasculitis pathology, Zebrafish, Adenosine Deaminase deficiency, Adenosine Deaminase genetics, Intercellular Signaling Peptides and Proteins deficiency, Intercellular Signaling Peptides and Proteins genetics, Mutation, Stroke genetics, Vascular Diseases genetics
- Abstract
Background: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood., Methods: We performed whole-exome sequencing in the initial three patients and their unaffected parents and candidate-gene sequencing in three patients with a similar phenotype, as well as two young siblings with polyarteritis nodosa and one patient with small-vessel vasculitis. Enzyme assays, immunoblotting, immunohistochemical testing, flow cytometry, and cytokine profiling were performed on samples from the patients. To study protein function, we used morpholino-mediated knockdowns in zebrafish and short hairpin RNA knockdowns in U937 cells cultured with human dermal endothelial cells., Results: All nine patients carried recessively inherited mutations in CECR1 (cat eye syndrome chromosome region, candidate 1), encoding adenosine deaminase 2 (ADA2), that were predicted to be deleterious; these mutations were rare or absent in healthy controls. Six patients were compound heterozygous for eight CECR1 mutations, whereas the three patients with polyarteritis nodosa or small-vessel vasculitis were homozygous for the p.Gly47Arg mutation. Patients had a marked reduction in the levels of ADA2 and ADA2-specific enzyme activity in the blood. Skin, liver, and brain biopsies revealed vasculopathic changes characterized by compromised endothelial integrity, endothelial cellular activation, and inflammation. Knockdown of a zebrafish ADA2 homologue caused intracranial hemorrhages and neutropenia - phenotypes that were prevented by coinjection with nonmutated (but not with mutated) human CECR1. Monocytes from patients induced damage in cocultured endothelial-cell layers., Conclusions: Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis. (Funded by the National Institutes of Health Intramural Research Programs and others.).
- Published
- 2014
- Full Text
- View/download PDF
48. Pituitary stalk lesion in a 13-year-old female.
- Author
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Zilbermint M, Ramnitz MS, Lodish MB, Kanaka-Gantenbein C, Kattamis A, Lyssikatos C, Patronas NJ, Quezado MM, and Stratakis CA
- Subjects
- Adolescent, Biopsy, Combined Modality Therapy, Female, Humans, Magnetic Resonance Imaging, Pituitary Neoplasms pathology, Pituitary Neoplasms therapy, Treatment Outcome, Pituitary Neoplasms diagnosis
- Abstract
Germinomas presenting with a pituitary stalk lesion and panhypopituitarism are rare in children, and their definite diagnosis is challenging. An invasive diagnostic approach, such as a transsphenoidal biopsy, is often required prior to establishing a treatment regimen. A 13-year-old female presented with 1 year of secondary amenorrhea, fatigue, and progressive thirst with polyuria. Laboratory work-up revealed panhypopituitarism (central hypothyroidism, hypogonadotropic hypogonadism, adrenal insufficiency and central diabetes insipidus). α-Fetoprotein and β-human chorionic gonadotropin were not elevated in serum nor in cerebrospinal fluid. The magnetic resonance imaging (MRI) of the pituitary region showed an enhancing infundibular lesion, extending into the hypothalamus, and infiltrating the pituitary gland. A transsphenoidal biopsy of the infundibular lesion confirmed the diagnosis of germinoma (germ-cell tumor). After appropriate hormone replacement therapy, chemotherapy and low-dose radiation therapy, the patient achieved complete resolution of the pituitary stalk lesion on the MRI.
- Published
- 2014
- Full Text
- View/download PDF
49. The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation.
- Author
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Courcoutsakis NA, Tatsi C, Patronas NJ, Lee CC, Prassopoulos PK, and Stratakis CA
- Abstract
The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the major clinical manifestation of the syndrome, followed by multicentric heart myxomas, which occur at a young age and are the lethal component of the disease. Myxomas may also occur on the skin (eyelid, external ear canal and nipple) and the breast. Breast myxomas, when present, are multiple and bilateral among female CNC patients, an entity which is also described as "breast-myxomatosis" and is a characteristic feature of the syndrome. Affected CNC patients often have tumours of two or more endocrine glands, including primary pigmented nodular adrenocortical disease (PPNAD), an adrenocorticotropin hormone (ACTH)-independent cause of Cushing's syndrome, growth hormone (GH)-secreting and prolactin (PRL)-secreting pituitary adenomas, thyroid adenomas or carcinomas, testicular neoplasms (large-cell calcifying Sertoli cell tumours [LCCSCT]) and ovarian lesions (cysts and cancinomas). Additional infrequent but characteristic manifestations of CNC are psammomatous melanotic schwannomas (PMS), breast ductal adenomas (DAs) with tubular features, and osteochondromyxomas or "Carney bone tumour". Teaching Points • Almost 60 % of the known CNC kindreds have a germline inactivating mutations in the PRKAR1A gene. • Spotty skin pigmentation is the major clinical manifestation of CNC, followed by heart myxomas. • Indicative imaging signs of PPNAD are contour abnormality and hypodense spots within the gland. • Two breast tumours may present in CNC: myxoid fibroadenomas (breast myxomatosis) and ductal adenomas. • Additional findings of CNC are psammomatous melanotic schwannomas (PMSs) and osteochondromyxomas.
- Published
- 2013
- Full Text
- View/download PDF
50. Early responses to adenoviral-mediated transfer of the aquaporin-1 cDNA for radiation-induced salivary hypofunction.
- Author
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Baum BJ, Alevizos I, Zheng C, Cotrim AP, Liu S, McCullagh L, Goldsmith CM, Burbelo PD, Citrin DE, Mitchell JB, Nottingham LK, Rudy SF, Van Waes C, Whatley MA, Brahim JS, Chiorini JA, Danielides S, Turner RJ, Patronas NJ, Chen CC, Nikolov NP, and Illei GG
- Subjects
- Aged, Citrates, Gallium, Humans, Male, Middle Aged, Radiation Injuries diagnostic imaging, Radiation Injuries genetics, Radionuclide Imaging, Salivary Gland Diseases diagnostic imaging, Salivary Gland Diseases etiology, Salivary Gland Diseases physiopathology, Adenoviridae genetics, Aquaporin 1 genetics, Aquaporin 1 therapeutic use, DNA, Complementary genetics, Genetic Therapy adverse effects, Radiation Injuries therapy, Salivary Gland Diseases therapy
- Abstract
No conventional therapy exists for salivary hypofunction in surviving head and neck cancer patients with Radiation Therapy Oncology Group late grade 2-3 toxicity. We conducted a phase I clinical trial to test the safety and biologic efficacy of serotype 5, adenoviral-mediated aquaporin-1 cDNA transfer to a single previously irradiated parotid gland in 11 subjects using an open label, single-dose, dose-escalation design (AdhAQP1 vector; four dose tiers from 4.8 × 10(7) to 5.8 × 10(9) vector particles per gland). Treated subjects were followed at scheduled intervals. Multiple safety parameters were measured and biologic efficacy was evaluated with measurements of parotid salivary flow rate. Symptoms were assessed with a visual analog scale. All subjects tolerated vector delivery and study procedures well over the 42-d study period reported. No deaths, serious adverse events, or dose-limiting toxicities occurred. Generally, few adverse events occurred, and all were considered mild or moderate. No consistent changes were found in any clinical chemistry and hematology parameters measured. Objective responses were seen in six subjects, all at doses <5.8 × 10(9) vector particles per gland. Five of these six subjects also experienced subjective improvement in xerostomia. AdhAQP1 vector delivery to a single parotid gland was safe and transfer of the hAQP1 cDNA increased parotid flow and relieved symptoms in a subset of subjects.
- Published
- 2012
- Full Text
- View/download PDF
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