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692 results on '"Ermani, M."'

9. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

Author

Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Pegoraro, E., Moggio, M., Filosto, M., Sette, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M. A., Carubbi, F., Ermani, M., Mongini, T., Toscano, A., and The Italian GSDII Group

Published
2012
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15. Thalidomide and sensory neurotoxicity: a neurophysiological study

Author

Zara, G., Ermani, M., Rondinone, R., Arienti, S., and Doria, A.

Subjects
Thalidomide -- Dosage and administration, Thalidomide -- Research, Neurophysiology -- Research, Action potentials (Electrophysiology) -- Research, Lupus erythematosus -- Care and treatment, Lupus erythematosus -- Research, Health, Psychology and mental health
Published
2008

27. Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers

Author

Salvalaggio, A., Coraci, Daniele, Cacciavillani, M., Obici, L., Mazzeo, A., Luigetti, Marco, Pastorelli, F., Grandis, M., Cavallaro, T., Bisogni, G., Lozza, A., Gemelli, C., Gentile, L., Ermani, M., Fabrizi, G. M., Plasmati, R., Campagnolo, M., Castellani, F., Gasparotti, Roberto, Martinoli, C., Padua, Luca, Briani, C., Coraci D., Luigetti M. (ORCID:0000-0001-7539-505X), Gasparotti R., Padua L. (ORCID:0000-0003-2570-9326), Salvalaggio, A., Coraci, Daniele, Cacciavillani, M., Obici, L., Mazzeo, A., Luigetti, Marco, Pastorelli, F., Grandis, M., Cavallaro, T., Bisogni, G., Lozza, A., Gemelli, C., Gentile, L., Ermani, M., Fabrizi, G. M., Plasmati, R., Campagnolo, M., Castellani, F., Gasparotti, Roberto, Martinoli, C., Padua, Luca, Briani, C., Coraci D., Luigetti M. (ORCID:0000-0001-7539-505X), Gasparotti R., and Padua L. (ORCID:0000-0003-2570-9326)

Abstract

Background: Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. Methods: Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. Results: Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = − 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). Conclusions: The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).

Published
2020

43. Neuroimaging Changes in Menkes Disease, Part 1

Author

Manara, R, D'Agata, L, Rocco, Mc, Cusmai, R, Freri, E, Pinelli, L, Darra, Francesca, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases: Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Giordano, L, Dionisi Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, Gaetano, and Zennaro, F.

Subjects
Menkes disease, neuroimaging, MRI, Male, Pathology, medicine.medical_specialty, vascular abnormalities, Neuroimaging, Disease, Pediatrics, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Menkes Kinky Hair Syndrome, Retrospective Studies, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Retrospective cohort study, Menkes disease, medicine.disease, White matter changes, Magnetic Resonance Imaging, White Matter, X-linked disorder, myelination delay, medicine.anatomical_structure, myelination delay, vascular abnormalities, X-linked disorder, copper metabolism, Disease Progression, Female, copper metabolism, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery, MRI
Abstract

Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.

Published
2017

44. Neuroimaging Changes in Menkes Disease, Part 2

Author

Manara, R, Rocco, M C, D'Agata, L, Cusmai, R, Freri, E, Giordano, L, Darra, F, Procopio, E, Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Pinelli, L, Dionisi-Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, G, and Zennara, F

Subjects
Child abuse, Male, Pathology, medicine.medical_specialty, Neuroimaging, Disease, Pediatrics, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, gray matter changes, X-linked disorder, copper metabolism, neurodegeneration, basal ganglia lesions, subdural collections, Basal ganglia, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Gray Matter, Child, Menkes Kinky Hair Syndrome, Retrospective Studies, gray matter changes, medicine.diagnostic_test, business.industry, neurodegeneration, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, basal ganglia lesions, subdural collections, X-linked disorder, Menkes disease, Neurology (clinical), copper metabolism, Differential diagnosis, business, 030217 neurology & neurosurgery, Rare disease
Abstract

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

Published
2017

47. Longitudinal evaluation of cerebral white matter hyperintensities lesion volume in children with sickle cell disease

Author

Manara, R, Talenti, Rampazzo, G, P, Ermani, M, Montanaro, M., Baracchini, C, Teso, S, Basso, Giuseppe, Sainati, L, and Colombatti, R.

Subjects
Pathology, medicine.medical_specialty, Lesion volume, Disease, Anemia, Sickle Cell, lesion volume, Sickle cell disease, white matter hyperintensities, Child, Humans, Magnetic Resonance Imaging, Brain, White Matter, White matter, 03 medical and health sciences, 0302 clinical medicine, medicine, Anemia sickle-cell, medicine.diagnostic_test, Cerebral white matter, business.industry, Magnetic resonance imaging, Anemia, Hematology, Hyperintensity, Sickle Cell, medicine.anatomical_structure, 030220 oncology & carcinogenesis, business, 030215 immunology
Published
2017

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