Imaging of metabolic and overload disorders in tissues and organs.
CT
Fabry disease
Hemochromatosis
MRI
Metabolic disorders
Overload disorders
Journal
Japanese journal of radiology
ISSN: 1867-108X
Titre abrégé: Jpn J Radiol
Pays: Japan
ID NLM: 101490689
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
12
09
2022
accepted:
24
12
2022
medline:
2
6
2023
pubmed:
22
1
2023
entrez:
21
1
2023
Statut:
ppublish
Résumé
Metabolic and overload disorders are a heterogeneous group of relatively uncommon but important diseases. While imaging plays a key role in the early detection and accurate diagnosis in specific organs with a pivotal role in several metabolic pathways, most of these diseases affect different tissues as part of a systemic syndromes. Moreover, since the symptoms are often vague and phenotypes similar, imaging alterations can present as incidental findings, which must be recognized and interpreted in the light of further biochemical and histological investigations. Among imaging modalities, MRI allows, thanks to its multiparametric properties, to obtain numerous information on tissue composition, but many metabolic and accumulation alterations require a multimodal evaluation, possibly using advanced imaging techniques and sequences, not only for the detection but also for accurate characterization and quantification. The purpose of this review is to describe the different alterations resulting from metabolic and overload pathologies in organs and tissues throughout the body, with particular reference to imaging findings.
Identifiants
pubmed: 36680702
doi: 10.1007/s11604-022-01379-7
pii: 10.1007/s11604-022-01379-7
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
571-595Informations de copyright
© 2023. The Author(s) under exclusive licence to Japan Radiological Society.
Références
Ferreira CR, Martinelli D, Blau N. Clinical and biochemical footprints of inherited metabolic diseases VI. Metabolic dermatoses. Mol Genet Metab. 2021;134(1–2):87–95.
pubmed: 34304991
pmcid: 8578301
doi: 10.1016/j.ymgme.2021.07.005
Lagergren K, Wahlin K, Mattsson F, Alderson D, Lagergren J. Haemochromatosis and gastrointestinal cancer. Int J Cancer. 2016;139(8):1740–3.
pubmed: 27300578
doi: 10.1002/ijc.30229
Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2(1–2):1–71.
pubmed: 29152458
pmcid: 5685203
Messina C, Albano D, Gitto S, Tofanelli L, Bazzocchi A, Ulivieri FM, et al. Body composition with dual energy X-ray absorptiometry: from basics to new tools. Quant Imaging Med Surg. 2020;10(8):1687–98.
pubmed: 32742961
pmcid: 7378094
doi: 10.21037/qims.2020.03.02
Albano D, Messina C, Vitale J, Sconfienza LM. Imaging of sarcopenia: old evidence and new insights. Eur Radiol. 2020;30(4):2199–208.
pubmed: 31834509
doi: 10.1007/s00330-019-06573-2
Adams JE. Advances in bone imaging for osteoporosis. Nat Rev Endocrinol. 2013;9(1):28–42.
pubmed: 23232496
doi: 10.1038/nrendo.2012.217
Queiroz-Andrade M, Blasbalg R, Ortega CD, Rodstein MA, Baroni RH, Rocha MS, et al. MR imaging findings of iron overload. Radiographics. 2009;29(6):1575–89.
pubmed: 19959509
doi: 10.1148/rg.296095511
Chung MJ, Lee KS, Franquet T, Muller NL, Han J, Kwon OJ. Metabolic lung disease: imaging and histopathologic findings. Eur J Radiol. 2005;54(2):233–45.
pubmed: 15837404
doi: 10.1016/j.ejrad.2004.07.003
de Oliveira AM, Paulino MV, Vieira APF, McKinney AM, da Rocha AJ, Dos Santos GT, et al. Imaging patterns of toxic and metabolic brain disorders. Radiographics. 2019;39(6):1672–95.
pubmed: 31589567
doi: 10.1148/rg.2019190016
Bordonaro V, Ciancarella P, Ciliberti P, Curione D, Napolitano C, Santangelo TP, et al. Dynamic contrast-enhanced magnetic resonance lymphangiography in pediatric patients with central lymphatic system disorders. Radiol Med. 2021;126(5):737–43.
pubmed: 33394367
doi: 10.1007/s11547-020-01309-5
Jafari SH, Haseli S, Kaffashan S, Saeedi-Moghadam M, Iranpour P, Zeinali-Rafsanjani B. Assessment of the Hallmarks of Wilson disease in CT scan imaging. J Med Imaging Radiat Sci. 2020;51(1):145–53.
pubmed: 31884064
doi: 10.1016/j.jmir.2019.11.002
Amin K, Mileto A, Kolokythas O. MRI for liver iron quantification: concepts and current methods. Semin Ultrasound CT MR. 2022;43(4):364–70.
pubmed: 35738822
doi: 10.1053/j.sult.2022.03.006
Hamer OW, Aguirre DA, Casola G, Lavine JE, Woenckhaus M, Sirlin CB. Fatty liver: imaging patterns and pitfalls. Radiographics. 2006;26(6):1637–53.
pubmed: 17102041
doi: 10.1148/rg.266065004
Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, et al. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004;28(2):158–68.
pubmed: 15091117
doi: 10.1097/00004728-200403000-00002
Renapurkar RD, Kanne JP. Metabolic and storage lung diseases: spectrum of imaging appearances. Insights Imaging. 2013. https://doi.org/10.1007/s13244-013-0289-x .
doi: 10.1007/s13244-013-0289-x
pubmed: 24078438
pmcid: 3846931
Rovira A, Alonso J, Cordoba J. MR imaging findings in hepatic encephalopathy. AJNR Am J Neuroradiol. 2008;29(9):1612–21.
pubmed: 18583413
pmcid: 8118773
doi: 10.3174/ajnr.A1139
Paoletti M, Muzic SI, Marchetti F, Farina LM, Bastianello S, Pichiecchio A. Differential imaging of atypical demyelinating lesions of the central nervous system. Radiologia Medica. 2021;126(6):827–42.
pubmed: 33486703
doi: 10.1007/s11547-021-01334-y
Santos Andrade C, Tavares Lucato L, Da Martin MGM, Marques-Dias MJ, Portela LAP, Gattas GS, et al. Non-alcoholic Wernicke’s encephalopathy: broadening the clinicoradiological spectrum. Br J Radiol. 2010;83(989):437–46.
pubmed: 20223908
pmcid: 3473571
doi: 10.1259/bjr/27226205
Kim TE, Lee EJ, Young JB, Shin DJ, Kim JH. Wernicke encephalopathy and ethanol-related syndromes. Semin Ultrasound CT MR. 2014;35(2):85–96.
pubmed: 24745886
doi: 10.1053/j.sult.2013.09.004
Kim DM, Lee IH, Song CJ. Uremic encephalopathy: MR imaging findings and clinical correlation. AJNR Am J Neuroradiol. 2016;37(9):1604–9.
pubmed: 27127003
pmcid: 7984681
doi: 10.3174/ajnr.A4776
Kumar G, Goyal MK. Lentiform Fork sign: a unique MRI picture. Is metabolic acidosis responsible? Clin Neurol Neurosurg. 2010;112(9):805–12.
pubmed: 20615611
doi: 10.1016/j.clineuro.2010.06.006
Bathla G, Policeni B, Agarwal A. Neuroimaging in patients with abnormal blood glucose levels. AJNR Am J Neuroradiol. 2014;35(5):833–40.
pubmed: 23639559
pmcid: 7964537
doi: 10.3174/ajnr.A3486
Kowkabi S, Nemati R, Mohammadi M, Kaboodkhani R, Omrani A, Ghavipisheh M. Temporal subcortical T2 hypointensity on MRI in Epilepsia partialis continua, a non ketotic hyperglycemia rather than herpes encephalitis. Int J Neurosci. 2020. https://doi.org/10.1080/00207454.2020.1847104 .
doi: 10.1080/00207454.2020.1847104
pubmed: 33292037
Shoback DM, Bilezikian JP, Costa AG, Dempster D, Dralle H, Khan AA, et al. Presentation of hypoparathyroidism: etiologies and clinical features. J Clin Endocrinol Metab. 2016;101(6):2300–12.
pubmed: 26943721
doi: 10.1210/jc.2015-3909
Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2018;147:293–305.
pubmed: 29325618
pmcid: 8235601
doi: 10.1016/B978-0-444-63233-3.00019-1
Choi JW, Moon WJ. Gadolinium deposition in the brain: current updates. Korean J Radiol. 2019;20(1):134–47.
pubmed: 30627029
doi: 10.3348/kjr.2018.0356
Sharma P, Eesa M, Scott JN. Toxic and acquired metabolic encephalopathies: MRI appearance. AJR Am J Roentgenol. 2009;193(3):879–86.
pubmed: 19696305
doi: 10.2214/AJR.08.2257
Uk-I JM, Yu E, Bartlett E, Soobrah R, Kucharczyk W. Acute hyperammonemic encephalopathy in adults: imaging findings. AJNR Am J Neuroradiol. 2011;32(2):413–8.
doi: 10.3174/ajnr.A2290
Albano D, Benenati M, Bruno A, Bruno F, Calandri M, Caruso D, et al. Imaging side effects and complications of chemotherapy and radiation therapy: a pictorial review from head to toe. Insights Imaging. 2021;12(1):76.
pubmed: 34114094
pmcid: 8192650
doi: 10.1186/s13244-021-01017-2
McKinney AM, Kieffer SA, Paylor RT, SantaCruz KS, Kendi A, Lucato L. Acute toxic leukoencephalopathy: potential for reversibility clinically and on MRI with diffusion-weighted and FLAIR imaging. AJR Am J Roentgenol. 2009;193(1):192–206.
pubmed: 19542414
doi: 10.2214/AJR.08.1176
Sahu A, Sankhe S, Mittal K, Kamath N, Pg N, Sahu A. A pictorial review on reversible splenial lesions. Indian J Radiol Imaging. 2021;31(1):3–9.
pubmed: 34316105
pmcid: 8299498
Bhatia S, Kapoor AK, Sharma A, Gupta R, Kataria S. Cerebral encephalopathy with extrapontine myelinolysis in a case of postpartum hypernatremia. Indian J Radiol Imaging. 2014;24(1):57–60.
pubmed: 24851006
pmcid: 4028916
doi: 10.4103/0971-3026.130697
Martin RJ. Central pontine and extrapontine myelinolysis: the osmotic demyelination syndromes. J Neurol Neurosurg Psychiatry. 2004. https://doi.org/10.1136/jnnp.2004.04590 .
doi: 10.1136/jnnp.2004.04590
pubmed: 15316041
pmcid: 1765665
Saroja AO, Naik KR, Mali RV, Kunam SR. “Wine Glass” sign in recurrent postpartum hypernatremic osmotic cerebral demyelination. Ann Indian Acad Neurol. 2013;16(1):106–10.
pubmed: 23661977
pmcid: 3644768
doi: 10.4103/0972-2327.107719
Kumar A, Singh AK. Teaching neuroimage: inverted V sign in subacute combined degeneration of spinal cord. Neurology. 2009;72(1): e4.
pubmed: 19122023
doi: 10.1212/01.wnl.0000338663.59433.9c
Ravina B, Loevner LA, Bank W. MR findings in subacute combined degeneration of the spinal cord: a case of reversible cervical myelopathy. AJR Am J Roentgenol. 2000;174(3):863–5.
pubmed: 10701640
doi: 10.2214/ajr.174.3.1740863
Turna O, Turna IF. Quantitative assessment of cervical spinal cord by diffusion tensor tractography in 3.0.T. Radiologia Medica. 2021;126(1):83–8.
pubmed: 32424658
doi: 10.1007/s11547-020-01224-9
Jung JB, Kim Y, Oh K, Kim SA, Doh JH, Oh HJ, et al. Subacute combined degeneration associated with vitamin E deficiency due to small bowel obstruction: a case report. Medicine (Baltimore). 2019;98(36): e17052.
pubmed: 31490402
doi: 10.1097/MD.0000000000017052
Galea N, Polizzi G, Gatti M, Cundari G, Figuera M, Faletti R. Cardiovascular magnetic resonance (CMR) in restrictive cardiomyopathies. Radiologia Medica. 2020;125(11):1072–86.
pubmed: 32970272
doi: 10.1007/s11547-020-01287-8
Di Cesare E, Carerj S, Palmisano A, Carerj ML, Catapano F, Vignale D, et al. Multimodality imaging in chronic heart failure. Radiologia Medica. 2021;126(2):231–42.
pubmed: 32676875
doi: 10.1007/s11547-020-01245-4
Pierpaolo P, Rolf S, Manuel BP, Davide C, Dresselaers T, Claus P, et al. Left ventricular global myocardial strain assessment: are CMR feature-tracking algorithms useful in the clinical setting? Radiol Med. 2020;125(5):444–50.
pubmed: 32125636
doi: 10.1007/s11547-020-01159-1
Esposito A, Francone M, Andreini D, Buffa V, Cademartiri F, Carbone I, et al. SIRM-SIC appropriateness criteria for the use of Cardiac Computed Tomography. Part 1: Congenital heart diseases, primary prevention, risk assessment before surgery, suspected CAD in symptomatic patients, plaque and epicardial adipose tissue characterization, and functional assessment of stenosis. Radiologia Medica. 2021;126(9):1236–48.
pubmed: 34160775
doi: 10.1007/s11547-021-01378-0
Esposito A, Gallone G, Palmisano A, Marchitelli L, Catapano F, Francone M. The current landscape of imaging recommendations in cardiovascular clinical guidelines: toward an imaging-guided precision medicine. Radiologia Medica. 2020;125(11):1013–23.
pubmed: 32964326
doi: 10.1007/s11547-020-01286-9
Pontone G, Di Cesare E, Castelletti S, De Cobelli F, De Lazzari M, Esposito A, et al. Appropriate use criteria for cardiovascular magnetic resonance imaging (CMR): SIC-SIRM position paper part 1 (ischemic and congenital heart diseases, cardio-oncology, cardiac masses and heart transplant). Radiologia Medica. 2021;126(3):365–79.
pubmed: 33629237
doi: 10.1007/s11547-020-01332-6
Pradella S, Grazzini G, De Amicis C, Letteriello M, Acquafresca M, Miele V. Cardiac magnetic resonance in hypertrophic and dilated cardiomyopathies. Radiologia Medica. 2020;125(11):1056–71.
pubmed: 32946001
doi: 10.1007/s11547-020-01276-x
Buffa V, Di Renzi P. CMR in the diagnosis of ischemic heart disease. Radiologia Medica. 2020;125(11):1114–23.
pubmed: 32936388
doi: 10.1007/s11547-020-01278-9
Liguori C, Farina D, Vaccher F, Ferrandino G, Bellini D, Carbone I. Myocarditis: imaging up to date. Radiol Med. 2020;125(11):1124–34.
pubmed: 33025305
pmcid: 7538190
doi: 10.1007/s11547-020-01279-8
van Assen M, Muscogiuri G, Caruso D, Lee SJ, Laghi A, De Cecco CN. Artificial intelligence in cardiac radiology. Radiol Med. 2020;125(11):1186–99.
pubmed: 32946002
doi: 10.1007/s11547-020-01277-w
Russo V, Lovato L, Ligabue G. Cardiac MRI: technical basis. Radiol Med. 2020;125(11):1040–55.
pubmed: 32939626
doi: 10.1007/s11547-020-01282-z
Haaf P, Garg P, Messroghli DR, Broadbent DA, Greenwood JP, Plein S. Cardiac T1 mapping and extracellular volume (ECV) in clinical practice: a comprehensive review. J Cardiovasc Magn Reson. 2016;18(1):89.
pubmed: 27899132
pmcid: 5129251
doi: 10.1186/s12968-016-0308-4
Pierpaolo P, Rolf S, Manuel B-P, Davide C, Dresselaers T, Claus P, et al. Left ventricular global myocardial strain assessment: are CMR feature-tracking algorithms useful in the clinical setting? Radiologia Medica. 2020;125(5):444–50.
pubmed: 32125636
doi: 10.1007/s11547-020-01159-1
Palumbo P, Masedu F, De Cataldo C, Cannizzaro E, Bruno F, Pradella S, et al. Real-world clinical validity of cardiac magnetic resonance tissue tracking in primitive hypertrophic cardiomyopathy. Radiologia Medica. 2021;126(12):1532–43.
pubmed: 34894317
doi: 10.1007/s11547-021-01432-x
Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation. 2017;135(14):1357–77.
pubmed: 28373528
pmcid: 5392416
doi: 10.1161/CIRCULATIONAHA.116.024438
Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid. 2018;25(4):215–9.
pubmed: 30614283
doi: 10.1080/13506129.2018.1549825
Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, et al. Amyloid nomenclature 2020: update and recommendations by the international society of amyloidosis (ISA) nomenclature committee. Amyloid. 2020;27(4):217–22.
pubmed: 33100054
doi: 10.1080/13506129.2020.1835263
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS. Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2019;73(22):2872–91.
pubmed: 31171094
pmcid: 6724183
doi: 10.1016/j.jacc.2019.04.003
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–12.
pubmed: 27143678
doi: 10.1161/CIRCULATIONAHA.116.021612
Sipe JD, Benson MD, Buxbaum JN, Ikeda SI, Merlini G, Saraiva MJ, et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification international society of amyloidosis 2016 nomenclature guidelines. Amyloid. 2016;23(4):209–13.
pubmed: 27884064
doi: 10.1080/13506129.2016.1257986
Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA, et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI Expert Consensus Recommendations for multimodality imaging in cardiac amyloidosis: part 1 of 2-evidence base and standardized methods of imaging. J Card Fail. 2019;25(11):e1–39.
pubmed: 31473268
doi: 10.1016/j.cardfail.2019.08.001
Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA, et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: part 2 of 2-diagnostic criteria and appropriate utilization. J Card Fail. 2019;25(11):854–65.
pubmed: 31473267
doi: 10.1016/j.cardfail.2019.08.002
Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA, et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: part 1 of 2-evidence base and standardized methods of imaging. J Nucl Cardiol. 2019;26(6):2065–123.
pubmed: 31468376
doi: 10.1007/s12350-019-01760-6
Dorbala S, Ando Y, Bokhari S, Dispenzieri A, Falk RH, Ferrari VA, et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: part 2 of 2-diagnostic criteria and appropriate utilization. J Nucl Cardiol. 2020;27(2):659–73.
pubmed: 31468377
doi: 10.1007/s12350-019-01761-5
Paeng JC, Choi JY. Nuclear imaging for cardiac amyloidosis: bone scan, SPECT/CT, and amyloid-targeting PET. Nucl Med Mol Imaging. 2021;55(2):61–70.
pubmed: 33968272
pmcid: 8053636
doi: 10.1007/s13139-020-00681-4
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur J Heart Fail. 2021;23(4):512–26.
pubmed: 33826207
doi: 10.1002/ejhf.2140
Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, et al. 2022 AHA/ACC/HFSA Guideline for the management of heart failure: executive summary: a report of the American College Of Cardiology/American Heart Association Joint Committee on clinical Practice Guidelines. J Am Coll Cardiol. 2022;79(17):1757–80.
pubmed: 35379504
doi: 10.1016/j.jacc.2021.12.011
Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, et al. 2022 AHA/ACC/HFSA guideline for the management of heart failure: a report of the American College of cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol. 2022;79(17):e263–421.
pubmed: 35379503
doi: 10.1016/j.jacc.2021.12.012
Russo V, Lovato L, Ligabue G. Cardiac MRI: technical basis. Radiologia Medica. 2020;125(11):1040–55.
pubmed: 32939626
doi: 10.1007/s11547-020-01282-z
Palmisano A, Darvizeh F, Cundari G, Rovere G, Ferrandino G, Nicoletti V, et al. Advanced cardiac imaging in athlete’s heart: unravelling the grey zone between physiologic adaptation and pathology. Radiologia Medica. 2021;126(12):1518–31.
pubmed: 34420142
doi: 10.1007/s11547-021-01411-2
Martinez-Naharro A, Kotecha T, Norrington K, Boldrini M, Rezk T, Quarta C, et al. Native T1 and extracellular volume in transthyretin amyloidosis. JACC Cardiovasc Imaging. 2019;12(5):810–9.
pubmed: 29550324
doi: 10.1016/j.jcmg.2018.02.006
Treibel TA, Kozor R, Menacho K, Castelletti S, Bulluck H, Rosmini S, et al. Left ventricular hypertrophy revisited: cell and matrix expansion have disease-specific relationships. Circulation. 2017;136(25):2519–21.
pubmed: 29255128
doi: 10.1161/CIRCULATIONAHA.117.029895
Zhao L, Tian Z, Fang Q. Diagnostic accuracy of cardiovascular magnetic resonance for patients with suspected cardiac amyloidosis: a systematic review and meta-analysis. BMC Cardiovasc Disord. 2016;16:129.
pubmed: 27267362
pmcid: 4897958
doi: 10.1186/s12872-016-0311-6
Kotecha T, Martinez-Naharro A, Treibel TA, Francis R, Nordin S, Abdel-Gadir A, et al. Myocardial edema and prognosis in amyloidosis. J Am Coll Cardiol. 2018;71(25):2919–31.
pubmed: 29929616
doi: 10.1016/j.jacc.2018.03.536
Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, Perez I, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50(25):2399–403.
pubmed: 18154965
doi: 10.1016/j.jacc.2007.06.062
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase a activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122–38.
pubmed: 11889412
doi: 10.1097/00005792-200203000-00003
Germain DP. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib Nephrol. 2001;136:234–40.
doi: 10.1159/000060194
Germain DP. Fabry disease: recent advances in enzyme replacement therapy. Expert Opin Investig Drugs. 2002;11(10):1467–76.
pubmed: 12387706
doi: 10.1517/13543784.11.10.1467
Germain DP. General aspects of X-linked diseases. In: Mehta AG, editor. Fabry Disease: Perspectives from 5 years of FOS. Oxford; 2006.
Germain DP. Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapy. Clin Ther. 2007. https://doi.org/10.1016/s0149-2918(07)80122-6 .
doi: 10.1016/s0149-2918(07)80122-6
pubmed: 17580237
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
pubmed: 21092187
pmcid: 3009617
doi: 10.1186/1750-1172-5-30
Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, et al. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease-a systematic literature review by a European panel of experts. Mol Genet Metab. 2019;126(3):224–35.
pubmed: 30413388
doi: 10.1016/j.ymgme.2018.09.007
Germain DP, Benistan K, Angelova L. X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease. Rev Med Interne. 2010;31(Suppl 2):S209–13.
pubmed: 21211665
doi: 10.1016/S0248-8663(10)70013-8
Germain DP, Bruneval P, Tran TC, Balouet P, Richalet B, Benistan K. Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: a case report. Eur J Med Genet. 2010;53(2):111–2.
pubmed: 20045092
doi: 10.1016/j.ejmg.2009.12.004
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015;52(5):353–8.
pubmed: 25795794
doi: 10.1136/jmedgenet-2014-102797
Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. Mol Genet Metab Rep. 2019;19: 100454.
pubmed: 30775256
pmcid: 6365982
doi: 10.1016/j.ymgmr.2019.100454
Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019;96(2):107–17.
pubmed: 30941742
pmcid: 6852597
doi: 10.1111/cge.13546
Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase a activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012;7:91.
pubmed: 23176611
pmcid: 3527132
doi: 10.1186/1750-1172-7-91
Germain DP, Levade T, Hachulla E, Knebelmann B, Lacombe D, Seguin VL, et al. Challenging the traditional approach for interpreting genetic variants: lessons from Fabry disease. Clin Genet. 2022;101(4):390–402.
pubmed: 34927718
doi: 10.1111/cge.14102
Germain DP, Moiseev S, Suarez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, et al. The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease. Mol Genet Genomic Med. 2021;9(5):e1666.
pubmed: 33835733
pmcid: 8172211
doi: 10.1002/mgg3.1666
Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, et al. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-beta: data from the Fabry registry. Genet Med. 2013;15(12):958–65.
pubmed: 23703683
doi: 10.1038/gim.2013.53
Tower-Rader A, Jaber WA. Multimodality imaging assessment of Fabry disease. Circ Cardiovasc Imaging. 2019;12(11):e009013.
pubmed: 31718277
doi: 10.1161/CIRCIMAGING.119.009013
Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, et al. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase a activity. Eur Heart J. 2010;31(9):1088–97.
pubmed: 20061327
pmcid: 2912636
doi: 10.1093/eurheartj/ehp588
Hsu TR, Hung SC, Chang FP, Yu WC, Sung SH, Hsu CL, et al. Later Onset fabry disease, cardiac damage progress in silence: experience with a highly prevalent mutation. J Am Coll Cardiol. 2016;68(23):2554–63.
pubmed: 27931613
doi: 10.1016/j.jacc.2016.09.943
Messroghli DR, Moon JC, Ferreira VM, Grosse-Wortmann L, He T, Kellman P, et al. Clinical recommendations for cardiovascular magnetic resonance mapping of T1, T2, T2* and extracellular volume: a consensus statement by the society for cardiovascular magnetic resonance (SCMR) endorsed by the European association for cardiovascular imaging (EACVI). J Cardiovasc Magn Reson. 2017;19(1):75.
pubmed: 28992817
pmcid: 5633041
doi: 10.1186/s12968-017-0389-8
Nordin S, Kozor R, Vijapurapu R, Augusto JB, Knott KD, Captur G, et al. Myocardial Storage, Inflammation, and cardiac phenotype in Fabry disease after one year of enzyme replacement therapy. Circ Cardiovasc Imaging. 2019;12(12):e009430.
pubmed: 31826677
pmcid: 6924943
doi: 10.1161/CIRCIMAGING.119.009430
Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, et al. Proposed stages of myocardial phenotype development in fabry disease. JACC Cardiovasc Imaging. 2019;12(8 Pt 2):1673–83.
pubmed: 29778854
doi: 10.1016/j.jcmg.2018.03.020
Nordin S, Kozor R, Bulluck H, Castelletti S, Rosmini S, Abdel-Gadir A, et al. Cardiac Fabry disease with late gadolinium enhancement is a chronic inflammatory cardiomyopathy. J Am Coll Cardiol. 2016;68(15):1707–8.
pubmed: 27712787
doi: 10.1016/j.jacc.2016.07.741
Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, et al. Cardiac phenotype of prehypertrophic Fabry disease. Circ Cardiovasc Imaging. 2018;11(6):e007168.
pubmed: 29853467
pmcid: 6023585
doi: 10.1161/CIRCIMAGING.117.007168
Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging. 2011;4(6):592–601.
pubmed: 21679893
doi: 10.1016/j.jcmg.2011.01.020
Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019;126(2):169–82.
pubmed: 30594474
doi: 10.1016/j.ymgme.2018.11.005
Kramer J, Niemann M, Stork S, Frantz S, Beer M, Ertl G, et al. Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol. 2014;114(6):895–900.
pubmed: 25073565
doi: 10.1016/j.amjcard.2014.06.019
Hagege A, Reant P, Habib G, Damy T, Barone-Rochette G, Soulat G, et al. Fabry disease in cardiology practice: literature review and expert point of view. Arch Cardiovasc Dis. 2019;112(4):278–87.
pubmed: 30826269
doi: 10.1016/j.acvd.2019.01.002
Markatis E, Afthinos A, Antonakis E, Papanikolaou IC. Cardiac sarcoidosis: diagnosis and management. Rev Cardiovasc Med. 2020;21(3):321–38.
pubmed: 33070538
doi: 10.31083/j.rcm.2020.03.102
Trivieri MG, Spagnolo P, Birnie D, Liu P, Drake W, Kovacic JC, et al. Challenges in cardiac and pulmonary sarcoidosis: JACC State-of-the-Art Review. J Am Coll Cardiol. 2020;76(16):1878–901.
pubmed: 33059834
pmcid: 7808240
doi: 10.1016/j.jacc.2020.08.042
Tadic M, Cuspidi C, Saeed S, Milojevic B, Milojevic IG. The role of cardiac magnetic resonance in diagnosis of cardiac sarcoidosis. Heart Fail Rev. 2021;26(3):653–60.
pubmed: 33025413
doi: 10.1007/s10741-020-10035-z
Kouranos V, Sharma R. Cardiac sarcoidosis: state-of-the-art review. Heart. 2021;107(19):1591–9.
pubmed: 33674355
doi: 10.1136/heartjnl-2019-316442
Chareonthaitawee P, Beanlands RS, Chen W, Dorbala S, Miller EJ, Murthy VL, et al. Joint SNMMI-ASNC expert consensus document on the role of (18)F-FDG PET/CT in cardiac sarcoid detection and therapy monitoring. J Nucl Cardiol. 2017;24(5):1741–58.
pubmed: 28770463
doi: 10.1007/s12350-017-0978-9
Okada DR, Saad E, Wand AL, Griffin JM, Kasper EK, Chen EH, et al. Effect of corticosteroid dose and duration on 18-fluorodeoxyglucose positron emission tomography in cardiac sarcoidosis. JACC Cardiovasc Imaging. 2020;13(5):1280–2.
pubmed: 31954655
doi: 10.1016/j.jcmg.2019.12.013
Ning N, Guo HH, Iagaru A, Mittra E, Fowler M, Witteles R. Serial cardiac FDG-PET for the diagnosis and therapeutic guidance of patients with cardiac sarcoidosis. J Card Fail. 2019;25(4):307–11.
pubmed: 30825644
doi: 10.1016/j.cardfail.2019.02.018
Aitken M, Chan MV, Urzua Fresno C, Farrell A, Islam N, McInnes MDF, et al. Diagnostic accuracy of cardiac MRI versus FDG PET for cardiac sarcoidosis: a systematic review and meta-analysis. Radiology. 2022. https://doi.org/10.1148/radiol.21317 .
doi: 10.1148/radiol.21317
pubmed: 35579526
Amano Y, Tachi M, Tani H, Mizuno K, Kobayashi Y, Kumita S. T2-weighted cardiac magnetic resonance imaging of edema in myocardial diseases. ScientificWorldJournal. 2012;2012:194069.
pubmed: 22973170
pmcid: 3438740
doi: 10.1100/2012/194069
Liguori C, Farina D, Vaccher F, Ferrandino G, Bellini D, Carbone I. Myocarditis: imaging up to date. Radiologia Medica. 2020;125(11):1124–34.
pubmed: 33025305
doi: 10.1007/s11547-020-01279-8
Palumbo P, Cannizzaro E, Di Cesare A, Bruno F, Schicchi N, Giovagnoni A, et al. Cardiac magnetic resonance in arrhythmogenic cardiomyopathies. Radiologia Medica. 2020;125(11):1087–101.
pubmed: 32978708
doi: 10.1007/s11547-020-01289-6
Bravo PE, Raghu G, Rosenthal DG, Elman S, Petek BJ, Soine LA, et al. Risk assessment of patients with clinical manifestations of cardiac sarcoidosis with positron emission tomography and magnetic resonance imaging. Int J Cardiol. 2017;241:457–62.
pubmed: 28318664
pmcid: 5469686
doi: 10.1016/j.ijcard.2017.03.033
Puntmann VO, Isted A, Hinojar R, Foote L, Carr-White G, Nagel E. T1 and T2 mapping in recognition of early cardiac involvement in systemic sarcoidosis. Radiology. 2017;285(1):63–72.
pubmed: 28448233
doi: 10.1148/radiol.2017162732
Pradella S, Grazzini G, Brandani M, Calistri L, Nardi C, Mori F, et al. Cardiac magnetic resonance in patients with mitral valve prolapse: focus on late gadolinium enhancement and T1 mapping. Eur Radiol. 2019;29(3):1546–54.
pubmed: 30088066
doi: 10.1007/s00330-018-5634-5
Greulich S, Deluigi CC, Gloekler S, Wahl A, Zurn C, Kramer U, et al. CMR imaging predicts death and other adverse events in suspected cardiac sarcoidosis. JACC Cardiovasc Imaging. 2013;6(4):501–11.
pubmed: 23498675
doi: 10.1016/j.jcmg.2012.10.021
Crouser ED, Ono C, Tran T, He X, Raman SV. Improved detection of cardiac sarcoidosis using magnetic resonance with myocardial T2 mapping. Am J Respir Crit Care Med. 2014;189(1):109–12.
pubmed: 24381994
pmcid: 3919128
doi: 10.1164/rccm.201309-1668LE
Crouser ED, Ruden E, Julian MW, Raman SV. Resolution of abnormal cardiac MRI T2 signal following immune suppression for cardiac sarcoidosis. J Investig Med. 2016;64(6):1148–50.
pubmed: 27354042
doi: 10.1136/jim-2016-000144
Kremastinos DT, Farmakis D. Iron overload cardiomyopathy in clinical practice. Circulation. 2011;124(20):2253–63.
pubmed: 22083147
doi: 10.1161/CIRCULATIONAHA.111.050773
Patel AR, Kramer CM. Role of cardiac magnetic resonance in the diagnosis and prognosis of nonischemic cardiomyopathy. JACC Cardiovasc Imaging. 2017;10:1180–93.
pubmed: 28982571
pmcid: 5708889
doi: 10.1016/j.jcmg.2017.08.005
Belem LC, Souza CA, Souza AS Jr, Escuissato DL, Hochhegger B, Nobre LF, et al. Metastatic pulmonary calcification: high-resolution computed tomography findings in 23 cases. Radiol Bras. 2017;50(4):231–6.
pubmed: 28894330
pmcid: 5586513
doi: 10.1590/0100-3984.2016-0123
Enemark A, Jonsson ALM, Kronborg-White S, Bendstrup E. Pulmonary alveolar microlithiasis-a review. Yale J Biol Med. 2021;94(4):637–44.
pubmed: 34970102
pmcid: 8686773
Crain MA, Lakhani DA, Balar AB, Hogg JP, Adelanwa A, Hailemichael E. Tracheobronchial amyloidosis: a case report and review of literature. Radiol Case Rep. 2021;16(9):2399–403.
pubmed: 34257768
pmcid: 8260753
doi: 10.1016/j.radcr.2021.05.082
Moroni C, Bindi A, Cavigli E, Cozzi D, Luvara S, Smorchkova O, et al. CT findings of non-neoplastic central airways diseases. Jpn J Radiol. 2022;40(2):107–19.
pubmed: 34398372
doi: 10.1007/s11604-021-01190-w
Brandelik SC, Heussel CP, Kauczor HU, Rocken C, Huber L, Basset M, et al. CT features in amyloidosis of the respiratory system - Comprehensive analysis in a tertiary referral center cohort. Eur J Radiol. 2020;129:109123.
pubmed: 32590259
doi: 10.1016/j.ejrad.2020.109123
Caruso D, Polici M, Zerunian M, Pucciarelli F, Polidori T, Guido G, et al. Quantitative Chest CT analysis in discriminating COVID-19 from non-COVID-19 patients. Radiologia Medica. 2021;126(2):243–9.
pubmed: 33044733
doi: 10.1007/s11547-020-01291-y
Akira M, Inoue Y, Arai T, Sugimoto C, Tokura S, Nakata K, et al. Pulmonary fibrosis on high-resolution CT of patients with pulmonary alveolar proteinosis. AJR Am J Roentgenol. 2016;207(3):544–51.
pubmed: 27548000
doi: 10.2214/AJR.15.14982
Cozzi D, Cavigli E, Moroni C, Smorchkova O, Zantonelli G, Pradella S, et al. Ground-glass opacity (GGO): a review of the differential diagnosis in the era of COVID-19. Jpn J Radiol. 2021;39(8):721–32.
pubmed: 33900542
pmcid: 8071755
doi: 10.1007/s11604-021-01120-w
Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol. 2014;87(1033):20130467.
pubmed: 24234586
doi: 10.1259/bjr.20130467
Wilmer MJ, Emma F, Levtchenko EN. The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. Am J Physiol Renal Physiol. 2010;299(5):F905–16.
pubmed: 20826575
doi: 10.1152/ajprenal.00318.2010
Ciccarese F, Brandi N, Corcioni B, Golfieri R, Gaudiano C. Complicated pyelonephritis associated with chronic renal stone disease. Radiologia Medica. 2021;126(4):505–16.
pubmed: 33245481
doi: 10.1007/s11547-020-01315-7
Schiffmann R. Fabry disease. Handb Clin Neurol. 2015;132:231–48.
pubmed: 26564084
doi: 10.1016/B978-0-444-62702-5.00017-2
Chan B, Adam DN. A review of fabry disease. Skin Therapy Lett. 2018;23(2):4–6.
pubmed: 29562089
Bernardes TP, Foresto RD, Kirsztajn GM. Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras. 2020. https://doi.org/10.1590/1806-9282.66.S1.10 .
doi: 10.1590/1806-9282.66.S1.10
pubmed: 31939530
Han JH, Ahn JH, Kim JS. Magnetic resonance elastography for evaluation of renal parenchyma in chronic kidney disease: a pilot study. Radiol Med. 2020;125(12):1209–15.
pubmed: 32367323
doi: 10.1007/s11547-020-01210-1
Dev S, Babitt JL. Overview of iron metabolism in health and disease. Hemodial Int. 2017;21(Suppl 1):S6–20.
pubmed: 28296010
pmcid: 5977983
doi: 10.1111/hdi.12542
Schein A, Enriquez C, Coates TD, Wood JC. Magnetic resonance detection of kidney iron deposition in sickle cell disease: a marker of chronic hemolysis. J Magn Reson Imaging. 2008;28(3):698–704.
pubmed: 18777554
pmcid: 2597353
doi: 10.1002/jmri.21490
Dahlqvist P, Isaksson M, Bensing S. Is Adrenal insufficiency a rare disease? Front Horm Res. 2016;46:106–14.
pubmed: 27210825
doi: 10.1159/000443870
Eslam M, Sanyal AJ, George J, International Consensus P. MAFLD: a consensus-driven proposed nomenclature for metabolic associated fatty liver disease. Gastroenterology. 2020;158(7):1999-2014 e1.
pubmed: 32044314
doi: 10.1053/j.gastro.2019.11.312
Shin N, Choi JA, Choi JM, Cho ES, Kim JH, Chung JJ, et al. Sclerotic changes of cavernous hemangioma in the cirrhotic liver: long-term follow-up using dynamic contrast-enhanced computed tomography. Radiol Med. 2020;125(12):1225–32.
pubmed: 32415477
doi: 10.1007/s11547-020-01221-y
Gatti M, Calandri M, Bergamasco L, Darvizeh F, Grazioli L, Inchingolo R, et al. Characterization of the arterial enhancement pattern of focal liver lesions by multiple arterial phase magnetic resonance imaging: comparison between hepatocellular carcinoma and focal nodular hyperplasia. Radiol Med. 2020;125(4):348–55.
pubmed: 31916102
doi: 10.1007/s11547-019-01127-4
Vernuccio F, Cannella R, Bartolotta TV, Galia M, Tang A, Brancatelli G. Advances in liver US, CT, and MRI: moving toward the future. Eur Radiol Exp. 2021;5(1):52.
pubmed: 34873633
pmcid: 8648935
doi: 10.1186/s41747-021-00250-0
Dioguardi Burgio M, Ronot M, Reizine E, Rautou PE, Castera L, Paradis V, et al. Quantification of hepatic steatosis with ultrasound: promising role of attenuation imaging coefficient in a biopsy-proven cohort. Eur Radiol. 2020;30(4):2293–301.
pubmed: 31822978
doi: 10.1007/s00330-019-06480-6
Hirooka M, Koizumi Y, Sunago K, Nakamura Y, Hirooka K, Watanabe T, et al. Efficacy of B-mode ultrasound-based attenuation for the diagnosis of hepatic steatosis: a systematic review/meta-analysis. J Med Ultrason (2001). 2022;49(2):199–210.
pubmed: 35239088
doi: 10.1007/s10396-022-01196-5
Argalia G, Tarantino G, Ventura C, Campioni D, Tagliati C, Guardati P, et al. Shear wave elastography and transient elastography in HCV patients after direct-acting antivirals. Radiologia Medica. 2021;126(6):894–9.
pubmed: 33492651
doi: 10.1007/s11547-020-01326-4
Tang A, Desai A, Hamilton G, Wolfson T, Gamst A, Lam J, et al. Accuracy of MR imaging-estimated proton density fat fraction for classification of dichotomized histologic steatosis grades in nonalcoholic fatty liver disease. Radiology. 2015;274(2):416–25.
pubmed: 25247408
doi: 10.1148/radiol.14140754
Gu J, Liu S, Du S, Zhang Q, Xiao J, Dong Q, et al. Diagnostic value of MRI-PDFF for hepatic steatosis in patients with non-alcoholic fatty liver disease: a meta-analysis. Eur Radiol. 2019;29(7):3564–73.
pubmed: 30899974
doi: 10.1007/s00330-019-06072-4
Hyodo T, Hori M, Lamb P, Sasaki K, Wakayama T, Chiba Y, et al. Multimaterial decomposition algorithm for the quantification of liver fat content by using fast-Kilovolt-Peak switching dual-energy CT: experimental validation. Radiology. 2017;282(2):381–9.
pubmed: 27541687
doi: 10.1148/radiol.2016160129
Cicero G, Mazziotti S, Silipigni S, Blandino A, Cantisani V, Pergolizzi S, et al. Dual-energy CT quantification of fractional extracellular space in cirrhotic patients: comparison between early and delayed equilibrium phases and correlation with oesophageal varices. Radiologia Medica. 2021;126(6):761–7.
pubmed: 33715036
doi: 10.1007/s11547-021-01341-z
Bottari A, Silipigni S, Carerj ML, Cattafi A, Maimone S, Marino MA, et al. Dual-source dual-energy CT in the evaluation of hepatic fractional extracellular space in cirrhosis. Radiol Med. 2020;125(1):7–14.
pubmed: 31587181
doi: 10.1007/s11547-019-01089-7
Chen ZY, Liu YP, Zheng GJ. Computed tomography and magnetic resonance imaging features of primary and secondary hepatic glycogenosis. Ann Hepatol. 2018;17(6):903–5.
pubmed: 30600303
doi: 10.5604/01.3001.0012.7189
Vernuccio F, Austin S, Meyer M, Guy CD, Kishnani PS, Marin D. “Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I-atypical magnetic resonance imaging findings: two case reports. World J Clin Cases. 2021;9(4):871–7.
pubmed: 33585634
pmcid: 7852632
doi: 10.12998/wjcc.v9.i4.871
Li J, Cao B, Bi X, Chen W, Wang L, Du Z, et al. Evaluation of liver function in patients with chronic hepatitis B using Gd-EOB-DTPA-enhanced T1 mapping at different acquisition time points: a feasibility study. Radiologia Medica. 2021;126(9):1149–58.
pubmed: 34105102
doi: 10.1007/s11547-021-01382-4
Werner S, Krauss B, Haberland U, Bongers M, Starke U, Bakchoul T, et al. Dual-energy CT for liver iron quantification in patients with haematological disorders. Eur Radiol. 2019;29(6):2868–77.
pubmed: 30406312
doi: 10.1007/s00330-018-5785-4
Cicero G, Ascenti G, Albrecht MH, Blandino A, Cavallaro M, D’Angelo T, et al. Extra-abdominal dual-energy CT applications: a comprehensive overview. Radiol Med. 2020;125(4):384–97.
pubmed: 31925704
doi: 10.1007/s11547-019-01126-5
Dohan A, Vargas O, Dautry R, Guerrache Y, Woimant F, Hamzi L, et al. MR imaging features of focal liver lesions in Wilson disease. Abdom Radiol (NY). 2016;41(9):1811–24.
pubmed: 27116011
doi: 10.1007/s00261-016-0744-5
Ozcan HN, Haliloglu M, Sokmensuer C, Akata D, Ozmen M, Karcaaltincaba M. Imaging for abdominal involvement in amyloidosis. Diagn Interv Radiol. 2017;23(4):282–5.
pubmed: 28498108
pmcid: 5508951
doi: 10.5152/dir.2017.16484
Patel BN, Routine MR. Imaging for pancreas. Magn Reson Imaging Clin N Am. 2018;26(3):315–22.
pubmed: 30376972
doi: 10.1016/j.mric.2018.03.009
Hill DV, Tirkes T. Advanced MR imaging of the pancreas. Magn Reson Imaging Clin N Am. 2020;28(3):353–67.
pubmed: 32624154
pmcid: 8007215
doi: 10.1016/j.mric.2020.03.003
Higashi M, Tanabe M, Okada M, Furukawa M, Iida E, Ito K. Influence of fat deposition on T1 mapping of the pancreas: evaluation by dual-flip-angle MR imaging with and without fat suppression. Radiol Med. 2020;125(1):1–6.
pubmed: 31562581
doi: 10.1007/s11547-019-01087-9
Harrington KA, Shukla-Dave A, Paudyal R, Do RKG. MRI of the pancreas. J Magn Reson Imaging. 2021;53(2):347–59.
pubmed: 32302044
doi: 10.1002/jmri.27148
Chiti G, Grazzini G, Cozzi D, Danti G, Matteuzzi B, Granata V, et al. Imaging of pancreatic neuroendocrine neoplasms. Int J Environ Res Public Health. 2021. https://doi.org/10.3390/ijerph18178895 .
doi: 10.3390/ijerph18178895
pubmed: 34501485
pmcid: 8430610
Brizi MG, Perillo F, Cannone F, Tuzza L, Manfredi R. The role of imaging in acute pancreatitis. Radiologia Medica. 2021;126(8):1017–29.
pubmed: 33982269
doi: 10.1007/s11547-021-01359-3
Mentzel HJ, Renz DM. Abdominal imaging in cystic fibrosis. Radiologe. 2020;60(9):831–8.
pubmed: 32495009
doi: 10.1007/s00117-020-00703-4
Sequeiros IM, Hester K, Callaway M, Williams A, Garland Z, Powell T, et al. MRI appearance of the pancreas in patients with cystic fibrosis: a comparison of pancreas volume in diabetic and non-diabetic patients. Br J Radiol. 2010;83(995):921–6.
pubmed: 20965902
pmcid: 3473715
doi: 10.1259/bjr/24009651
Pfeifer CD, Schoennagel BP, Grosse R, Wang ZJ, Graessner J, Nielsen P, et al. Pancreatic iron and fat assessment by MRI-R2* in patients with iron overload diseases. J Magn Reson Imaging. 2015;42(1):196–203.
pubmed: 25236606
doi: 10.1002/jmri.24752
Fernandez-Real JM, Lopez-Bermejo A, Ricart W. Cross-talk between iron metabolism and diabetes. Diabetes. 2002;51(8):2348–54.
pubmed: 12145144
doi: 10.2337/diabetes.51.8.2348
Crane GM, Liu YC, Chadburn A. Spleen: development, anatomy and reactive lymphoid proliferations. Semin Diagn Pathol. 2021;38(2):112–24.
pubmed: 32591155
doi: 10.1053/j.semdp.2020.06.003
Aslan E, Luo JW, Lesage A, Paquin P, Cerny M, Chin AS, et al. MRI-based R2* mapping in patients with suspected or known iron overload. Abdom Radiol (NY). 2021;46(6):2505–15.
pubmed: 33388804
doi: 10.1007/s00261-020-02912-w
Abdel Razek AAK, Barakat T, Ali K. Assessment of liver and spleen in children with gaucher disease type 1 with chemical shift imaging. J Comput Assist Tomogr. 2019;43(2):183–6.
pubmed: 30407244
doi: 10.1097/RCT.0000000000000817
Lama N, Briasoulis A, Karavasilis E, Stamatelopoulos K, Chasouraki A, Alexopoulou E, et al. The utility of splenic imaging parameters in cardiac magnetic resonance for the diagnosis of immunoglobulin light-chain amyloidosis. Insights Imaging. 2022;13(1):55.
pubmed: 35348907
pmcid: 8964909
doi: 10.1186/s13244-022-01194-8
Shetty AS, Sipe AL, Zulfiqar M, Tsai R, Raptis DA, Raptis CA, et al. In-phase and opposed-phase imaging: applications of chemical shift and magnetic susceptibility in the chest and abdomen. Radiographics. 2019;39(1):115–35.
pubmed: 30547731
doi: 10.1148/rg.2019180043
Razek AAKA, Abdalla A, Barakat T, El-Taher H, Ali K. Assessment of the liver and spleen in children with Gaucher disease type I with diffusion-weighted MR imaging. Blood Cells Mol Dis. 2018;68:139–42.
pubmed: 28012701
doi: 10.1016/j.bcmd.2016.12.004
Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ. Imaging findings of metabolic bone disease. Radiographics. 2016;36(6):1871–87.
pubmed: 27726750
doi: 10.1148/rg.2016160004
Chiarilli MG, Delli Pizzi A, Mastrodicasa D, Febo MP, Cardinali B, Consorte B, et al. Bone marrow magnetic resonance imaging: physiologic and pathologic findings that radiologist should know. Radiologia Medica. 2021;126(2):264–76.
pubmed: 32557107
doi: 10.1007/s11547-020-01239-2
Adela A, Rangarajan L. Computational techniques to segment and classify lumbar compression fractures. Radiol Med. 2020;125(6):551–60.
doi: 10.1007/s11547-020-01145-7
Jimenez-Pastor A, Alberich-Bayarri A, Fos-Guarinos B, Garcia-Castro F, Garcia-Juan D, Glocker B, et al. Automated vertebrae localization and identification by decision forests and image-based refinement on real-world CT data. Radiol Med. 2020;125(1):48–56.
pubmed: 31522345
doi: 10.1007/s11547-019-01079-9
Guglielmi G, Muscarella S, Bazzocchi A. Integrated imaging approach to osteoporosis: state-of-the-art review and update. Radiographics. 2011;31(5):1343–64.
pubmed: 21918048
doi: 10.1148/rg.315105712
Kanis JA, Cooper C, Rizzoli R, Reginster JY, Scientific Advisory Board of the European Society for C, Economic Aspects of O, et al. European guidance for the diagnosis and management of osteoporosis in postmenopausal women. Osteoporos Int. 2019;30(1):3–44.
pubmed: 30324412
doi: 10.1007/s00198-018-4704-5
Lewiecki EM, Gordon CM, Baim S, Leonard MB, Bishop NJ, Bianchi ML, et al. International society for clinical densitometry 2007 adult and pediatric official positions. Bone. 2008;43(6):1115–21.
pubmed: 18793764
doi: 10.1016/j.bone.2008.08.106
Momeni M, Asadzadeh M, Mowla K, Hanafi MG, Gharibvand MM, Sahraeizadeh A. Sensitivity and specificity assessment of DWI and ADC for the diagnosis of osteoporosis in postmenopausal patients. Radiol Med. 2020;125(1):68–74.
pubmed: 31531809
doi: 10.1007/s11547-019-01080-2
Messina C, Maffi G, Vitale JA, Ulivieri FM, Guglielmi G, Sconfienza LM. Diagnostic imaging of osteoporosis and sarcopenia: a narrative review. Quant Imaging Med Surg. 2018;8(1):86–99.
pubmed: 29541625
pmcid: 5835659
doi: 10.21037/qims.2018.01.01
Messina C, Piodi LP, Rinaudo L, Buonomenna C, Sconfienza LM, Vergani L, et al. Reproducibility of DXA-based bone strain index and the influence of body mass: an in vivo study. Radiol Med. 2020;125(3):313–8.
pubmed: 31883053
doi: 10.1007/s11547-019-01118-5
Cruz-Jentoft AJ, Bahat G, Bauer J, Boirie Y, Bruyere O, Cederholm T, et al. Sarcopenia: revised European consensus on definition and diagnosis. Age Ageing. 2019;48(1):16–31.
pubmed: 30312372
doi: 10.1093/ageing/afy169
Hirschfeld HP, Kinsella R, Duque G. Osteosarcopenia: where bone, muscle, and fat collide. Osteoporos Int. 2017;28(10):2781–90.
pubmed: 28733716
doi: 10.1007/s00198-017-4151-8
Vitale JA, Messina C, Albano D, Fascio E, Galbusera F, Corbetta S, et al. Appendicular muscle mass, thigh intermuscular fat infiltration, and risk of fall in postmenopausal osteoporotic elder women. Gerontology. 2021;67(4):415–24.
pubmed: 33677443
doi: 10.1159/000513597
Petak S, Barbu CG, Yu EW, Fielding R, Mulligan K, Sabowitz B, et al. The official positions of the international society for clinical densitometry: body composition analysis reporting. J Clin Densitom. 2013;16(4):508–19.
pubmed: 24183640
doi: 10.1016/j.jocd.2013.08.018
Chianca V, Albano D, Messina C, Gitto S, Ruffo G, Guarino S, et al. Sarcopenia: imaging assessment and clinical application. Abdom Radiol (NY). 2021;23:1–2.
James RA, Singh-Grewal D, Lee SJ, McGill J, Adib N, Rheumatology AP, G. Lysosomal storage disorders: a review of the musculoskeletal features. J Paediatr Child Health. 2016;52(3):262–71.
pubmed: 27124840
doi: 10.1111/jpc.13122
Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, et al. Lipomatosis incidence and characteristics in an italian cohort of mitochondrial patients. Front Neurol. 2019;10:160.
pubmed: 30873109
pmcid: 6402385
doi: 10.3389/fneur.2019.00160
Cellina M, Gibelli D, Floridi C, Oliva G. Volumetric analysis of non-contrast magnetic resonance lymphangiography in patients affected by lower extremities primary lymphedema. Radiol Med. 2020;125(4):432–5.
pubmed: 31848805
doi: 10.1007/s11547-019-01122-9
Gentili F, Guerrini S, Mazzei FG, Volterrani L, Mazzei MA. MRL as one-shot examination for patients suffering from lymphedema. Radiol Med. 2020;125(8):798–9.
pubmed: 32180151
doi: 10.1007/s11547-020-01162-6
Cellina M, Gibelli D, Martinenghi C, Giardini D, Soresina M, Menozzi A, et al. Non-contrast magnetic resonance lymphography (NCMRL) in cancer-related secondary lymphedema: acquisition technique and imaging findings. Radiol Med. 2021;126(11):1477–86.
pubmed: 34379302
doi: 10.1007/s11547-021-01410-3
Gemignani F, Pietrini V, Tagliavini F, Lechi A, Neri TM, Asinari A, et al. Fabry’s disease with familial lymphedema of the lower limbs. Case report and family study. Eur Neurol. 1979;18(2):84–90.
pubmed: 37087
doi: 10.1159/000115059
Bordonaro V, Ciancarella P, Ciliberti P, Curione D, Napolitano C, Santangelo TP, et al. Dynamic contrast-enhanced magnetic resonance lymphangiography in pediatric patients with central lymphatic system disorders. Radiologia Medica. 2021;126(5):737–43.
pubmed: 33394367
doi: 10.1007/s11547-020-01309-5
Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol. 2007;157(2):331–7.
pubmed: 17573884
doi: 10.1111/j.1365-2133.2007.08002.x
Politei J, Thurberg BL, Wallace E, Warnock D, Serebrinsky G, Durand C, et al. Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Clin Genet. 2016;89(1):5–9.
pubmed: 26333625
doi: 10.1111/cge.12673
Amiri M, Kuech EM, Shammas H, Wetzel G, Naim HY. The Pathobiochemistry of gastrointestinal symptoms in a patient with niemann-pick type C disease. JIMD Rep. 2016;25:25–9.
pubmed: 26122626
doi: 10.1007/8904_2015_454
Kim SH, Han JK, Lee KH, Won HJ, Kim KW, Kim JS, et al. Abdominal amyloidosis: spectrum of radiological findings. Clin Radiol. 2003;58(8):610–20.
pubmed: 12887954
doi: 10.1016/S0009-9260(03)00142-9
Buda P, Wieteska-Klimczak A, Ksiazyk J, Gietka P, Smorczewska-Kiljan A, Pronicki M, et al. Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome. JIMD Rep. 2012;4:25–8.
pubmed: 23430893
doi: 10.1007/8904_2011_63
Flynn DM, Lake BD, Boothby CB, Young EP. Gut lesions in Fabry’s disease without a rash. Arch Dis Child. 1972;47(251):26–33.
pubmed: 5018655
pmcid: 1648012
doi: 10.1136/adc.47.251.26
Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology. 1982;32(5):498–502.
pubmed: 6803189
doi: 10.1212/WNL.32.5.498
Bryan A, Knauft RF, Burns WA. Small bowel perforation in Fabry’s disease. Ann Intern Med. 1977;86(3):315–6.
pubmed: 402878
doi: 10.7326/0003-4819-86-3-315
Lorusso F, Principi M, Pedote P, Pignataro P, Francavilla M, Sardaro A, et al. Prevalence and clinical significance of incidental extra-intestinal findings in MR enterography: experience of a single university centre. Radiologia Medica. 2021;126(2):181–8.
pubmed: 32495273
doi: 10.1007/s11547-020-01235-6
Deniz K, Yurci A, Yagbasan A, Tekelioglu F, Gursoy S, Guven K. Colonic involvement in Fabry disease. Int J Surg Pathol. 2011;19(6):777–8.
pubmed: 22104736
doi: 10.1177/1066896911428737
Sheth KJ, Werlin SL, Freeman ME, Hodach AE. Gastrointestinal structure and function in Fabry’s disease. Am J Gastroenterol. 1981;76(3):246–51.
pubmed: 6274188
Jack CI, Morris AI, Nasmyth DG, Carroll N. Colonic involvement in Fabry’s disease. Postgrad Med J. 1991;67(788):584–5.
pubmed: 1924035
pmcid: 2398882
doi: 10.1136/pgmj.67.788.584
Politei J, Durand C, Schenone AB, Torres A, Mukdsi J, Thurberg BL. Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? Mol Genet Metab Rep. 2017;11:8–11.
pubmed: 28377888
pmcid: 5369854
doi: 10.1016/j.ymgmr.2017.03.004
Kocic M, Djuricic SM, Djordjevic M, Savic D, Kecman B, Sarajlija A. Appendiceal involvement in a patient with Gaucher disease. Blood Cells Mol Dis. 2018;68:109–11.
pubmed: 27717752
doi: 10.1016/j.bcmd.2016.09.002
Gilat T, Revach M, Sohar E. Deposition of amyloid in the gastrointestinal tract. Gut. 1969;10(2):98–104.
pubmed: 5766053
pmcid: 1552807
doi: 10.1136/gut.10.2.98
Danti G, Flammia F, Matteuzzi B, Cozzi D, Berti V, Grazzini G, et al. Gastrointestinal neuroendocrine neoplasms (GI-NENs): hot topics in morphological, functional, and prognostic imaging. Radiologia Medica. 2021;126(12):1497–507.
pubmed: 34427861
doi: 10.1007/s11547-021-01408-x
Trinh TD, Jones B, Fishman EK. Amyloidosis of the colon presenting as ischemic colitis: a case report and review of the literature. Gastrointest Radiol. 1991;16(2):133–6.
pubmed: 2016025
doi: 10.1007/BF01887327
Napolitano M, Munari AM, Di Leo G, Panarisi NAR, Zuin G, Fava G, et al. MR enterography grading of pediatric ileocolonic Crohn disease activity based on a single bowel segment. Radiologia Medica. 2021;126(11):1396–406.
pubmed: 34414550
doi: 10.1007/s11547-021-01409-w
Scapicchio C, Gabelloni M, Barucci A, Cioni D, Saba L, Neri E. A deep look into radiomics. Radiol Med. 2021;126(10):1296–311.
pubmed: 34213702
pmcid: 8520512
doi: 10.1007/s11547-021-01389-x
Gurgitano M, Angileri SA, Roda GM, Liguori A, Pandolfi M, Ierardi AM, et al. Interventional radiology ex-machina: impact of Artificial Intelligence on practice. Radiol Med. 2021;126(7):998–1006.
pubmed: 33861421
pmcid: 8050998
doi: 10.1007/s11547-021-01351-x
Aerts HJ, Grossmann P, Tan Y, Oxnard GR, Rizvi N, Schwartz LH, et al. Defining a radiomic response phenotype: a pilot study using targeted therapy in NSCLC. Sci Rep. 2016;6:33860.
pubmed: 27645803
pmcid: 5028716
doi: 10.1038/srep33860
Adil MT, Rahman R, Whitelaw D, Jain V, Al-Taan O, Rashid F, et al. SARS-CoV-2 and the pandemic of COVID-19. Postgrad Med J. 2021;97(1144):110–6.
pubmed: 32788312
doi: 10.1136/postgradmedj-2020-138386
Neri E, Coppola F, Miele V, Bibbolino C, Grassi R. Artificial intelligence: who is responsible for the diagnosis? Radiol Med. 2020;125(6):517–21.
pubmed: 32006241
doi: 10.1007/s11547-020-01135-9