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Showing 1 to 12 of 21 entries
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Paucisymptomatic pulmonary and right ear tuberculosis in young woman suffering from anorexia and bulimia nervosa.

Radiology case reports

Garaci FG, Vasili E, Bocchinfuso F, Lacchè A, Nardone V, Di Donna C, Spiritigliozzi L, Floris R.
PMID: 30766647
Radiol Case Rep. 2019 Jan 29;14(3):423-426. doi: 10.1016/j.radcr.2018.10.019. eCollection 2019 Mar.

Nowadays tuberculosis has become a reemerging infectious disease due to the many forms of immunodeficiency. Patients with eating disorders like anorexia nervosa and bulimia are a susceptible group due to the immune impairment correlated with severe malnutrition and their...

IRF2BPL Is Associated with Neurological Phenotypes.

American journal of human genetics

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.
PMID: 30057031
Am J Hum Genet. 2018 Aug 02;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26.

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we...

Effects on pain of percutaneous treatment of cervical disc herniations using DiscoGel: A retrospective analysis.

The neuroradiology journal

Fiori R, Forcina M, Di Donna C, Spiritigliozzi L, Cavallo AU, Floris R.
PMID: 33678063
Neuroradiol J. 2021 Aug;34(4):313-319. doi: 10.1177/19714009211000622. Epub 2021 Mar 08.

BACKGROUND AND PURPOSE: Cervical discogenic pain originates from degenerated intervertebral discs and is a common condition in the middle-aged population. Cervical discs may herniate and give compressions to cervical nerves, with pain and functional limitation of the arms. DiscoGel...

Relationship between septo-valvular angle and risk of pacemaker implantation after transcatheter aortic valve implantation: a preliminary study.

Journal of cardiovascular medicine (Hagerstown, Md.)

De Stasio V, Cavallo AU, Spiritigliozzi L, Pugliese L, Presicce M, Di Donna C, Di Tosto F, Pasqualetto M, D'Errico F, Benelli L, Sbordone FP, Grimaldi F, Cerimele C, Vanni G, Romeo F, Floris R, Garaci F, Chiocchi M.
PMID: 34074895
J Cardiovasc Med (Hagerstown). 2021 Sep 01;22(9):716-722. doi: 10.2459/JCM.0000000000001181.

AIM: Pre-transcatheter aortic valve implantation (TAVI) computed tomography (CT) has proven to be crucial in identifying pre- and post-procedural predicting factors predisposing the onset of major arrhythmias that require permanent pacemaker (PPM) implantation caused by the compressive effects of...

Cardiac Magnetic Resonance Tissue Characterization in Ischemic Cardiomyopathy.

Journal of thoracic imaging

Muscogiuri G, Ricci F, Scafuri S, Guglielmo M, Baggiano A, De Stasio V, Di Donna C, Spiritigliozzi L, Chiocchi M, Lee SJ, De Cecco CN, van Assen M, Rabbat MG, Pontone G.
PMID: 34524203
J Thorac Imaging. 2022 Jan 01;37(1):2-16. doi: 10.1097/RTI.0000000000000621.

Ischemic cardiomyopathy (ICM) is one of the most common causes of congestive heart failure. In patients with ICM, tissue characterization with cardiac magnetic resonance imaging (CMR) allows for evaluation of myocardial abnormalities in acute and chronic settings. Myocardial edema,...

Behavioral, social and school functioning in children with Pompe disease.

Molecular genetics and metabolism reports

Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS.
PMID: 32793419
Mol Genet Metab Rep. 2020 Aug 05;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec.

PURPOSE: To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease.METHOD: Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on long-term enzyme replacement therapy completed...

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Frontiers in behavioral neuroscience

Liogier d'Ardhuy X, Edgin JO, Bouis C, de Sola S, Goeldner C, Kishnani P, Nöldeke J, Rice S, Sacco S, Squassante L, Spiridigliozzi G, Visootsak J, Heller J, Khwaja O.
PMID: 26635554
Front Behav Neurosci. 2015 Nov 18;9:300. doi: 10.3389/fnbeh.2015.00300. eCollection 2015.

Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability. Individuals with DS have considerable deficits in intellectual functioning (i.e., low intellectual quotient, delayed learning and/or impaired language development) and adaptive behavior. Previous pharmacological studies in...

A rare case of a giant circumflex coronary artery aneurysm 10 years after bentall surgery.

Radiology case reports

Chiocchi M, Di Donna C, Intorcia A, Pugliese L, De Stasio V, Di Tosto F, Spiritigliozzi L, D'Errico F, Benelli L, Pasqualetto M, Cerimele C, Cesareni M, Grimaldi F, Sbordone FP, Luciano A, Laudazi M, Rellini C, Romeo A, Vanni G, Morosetti D, Di Luozzo M, Floris R, Romeo F, Garaci FG.
PMID: 34007396
Radiol Case Rep. 2021 May 01;16(7):1749-1753. doi: 10.1016/j.radcr.2021.03.065. eCollection 2021 Jul.

In this paper, we describe a rare case of coronary artery aneurysms occasionally found on a pre interventional Coronary Computed Tomography Angiography performed on a 67-year-old man with a history of aneurysm of the ascending aorta previously treated with...

Pseudoaneurysm of the aortic root following aortic valve endocarditis - a case with 2 rare life - threatening complications.

Radiology case reports

Chiocchi M, D'Errico F, De Stasio V, Di Tosto F, Pugliese L, Di Donna C, Spiritigliozzi L, Benelli L, Masala S, Caterino L, Vanni G, Pasqualetto M, Cerimele C, Sbordone F, Grimaldi F, Cesareni M, Luciano A, Laudazi M, Rellini C, Cerocchi M, Leomanni P, Floris R, Garaci F.
PMID: 34630805
Radiol Case Rep. 2021 Oct 02;16(12):3703-3707. doi: 10.1016/j.radcr.2021.08.066. eCollection 2021 Dec.

Infective endocarditis can have peri-annular spread and involve the valvular annulus and adjacent cardiac structures, leading to tissue necrosis and peri-annular abscess. This process may cause pseudoaneurysm formation and other rare and potentially life-threatening complications, so their identification and...

Is it confirmed the presence of neurological soft signs in children with Neurofibromatosis type 1?.

Minerva pediatrica

Galasso C, Casarelli L, El Malhany N, Pitzianti MB, Spiridigliozzi S, Curatolo P, Pasini A.
PMID: 27471818
Minerva Pediatr. 2016 Jul 08; Epub 2016 Jul 08.

BACKGROUND: Neurofibromatosis type 1 is a common neurogenetic disorder affecting nervous system, caused by germiline mutations of the NF1 gene. Although the clinical diagnosis of NF1 is defined by presence of cafe-au-laits spots, freckling and benign tumours (neurofibromatosis), neurocognitive...

Cardiac Magnetic Resonance Tissue Characterization in Ischemic Cardiomyopathy.

Journal of thoracic imaging

Muscogiuri G, Ricci F, Scafuri S, Guglielmo M, Baggiano A, De Stasio V, Di Donna C, Spiritigliozzi L, Chiocchi M, Lee SJ, De Cecco CN, van Assen M, Rabbat MG, Pontone G.
PMID: 34524203
J Thorac Imaging. 2022 Jan 01;37(1):2-16. doi: 10.1097/RTI.0000000000000621.

Ischemic cardiomyopathy (ICM) is one of the most common causes of congestive heart failure. In patients with ICM, tissue characterization with cardiac magnetic resonance imaging (CMR) allows for evaluation of myocardial abnormalities in acute and chronic settings. Myocardial edema,...

Cryotherapy of acetabular osteoid osteoma under fluoroscopic guidance using the XperGuide System.

Radiology case reports

Fiori R, Forcina M, Di Donna C, D'Onofrio A, Spiritigliozzi L, Cavallo AU, Floris R.
PMID: 31198481
Radiol Case Rep. 2019 Jun 06;14(8):989-992. doi: 10.1016/j.radcr.2019.05.021. eCollection 2019 Aug.

Osteoid osteoma represents 10%-12% of all benign bone tumors, and is composed by osteoid tissue and reticular and immature bone tissue. Acetabular involvement is very rare (≤1%). In this case report, we describe the treatment of an osteoid osteoma...

Showing 1 to 12 of 21 entries