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F Roncaroli

Publications and source records attributed to F Roncaroli.

At least 19 recordsLinked to original sources
PubMed2007

Analysis of alpha-synuclein, dopamine and parkin pathways in neuropathologically confirmed parkinsonian nigra.

The identification of mutations that cause familial Parkinson's disease (PD) provides a framework for studies into pathways that may be perturbed also in the far more common, non-familial form of the disorder. Following this hypothesis, we have examined the gene regulatory network that links alpha-synuclein and parkin pathways with dopamine metabolism in neuropathologically verified cases of sporadic PD. By means of an in silico approach using a database of eukaryotic molecular interactions and a whole genome transcriptome dataset validated by qRT-PCR and histological methods, we found parkin and functionally associated genes to be up-regulated in the lateral substantia nigra (SN). In contrast, alpha-synuclein and ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) gene expression levels were significantly reduced in both the lateral and medial SN in PD. Gene expression for Septin 4, a member of the GTP-binding protein family involved in alpha-synuclein metabolism was elevated in the lateral parkinsonian SN. Additionally, catalase and mitogen-activated protein kinase 8 and poly(ADP-ribose) polymerase family member 1 (PARP1) known to function in DNA repair and cell death induction, all members of the dopamine synthesis pathway, were up-regulated in the lateral SN. In contrast, two additional PD-linked genes, glucocerebrosidase and nuclear receptor subfamily 4, group A, member 2 (NR4A2) showed reduced expression. We show that in sporadic PD, parkin, alpha-synuclein and dopamine pathways are co-deregulated. Alpha-synuclein is a member of all three gene regulatory networks. Our analysis results support the view that alpha-synuclein has a central role in the familial as well as the non-familial form of the disease and provide steps towards a pathway definition of PD.

Adult↗
PubMed2006

Comparative study of commercially available anti-alpha-synuclein antibodies.

Immunohistochemistry for alpha-synuclein has become the histological technique of choice for the diagnosis for Parkinson's disease, Dementia with Lewy bodies and Multiple System Atrophy (http://www.ICDNS.org). Nevertheless, no standardised protocol has been proposed. We have reviewed 242 of the 270 studies published until June 2005 that mentioned immunohistochemistry for anti-alpha synuclein on human tissue and we found that only 75 (31%) used commercial antibodies. We also noted that protocols, particularly dilution and antigen unmasking, varied between studies, even when the same antibody was employed. In order to establish a standardised protocol for alpha-synuclein immunohistochemistry, which can be applied in diagnostic neuropathology we tested seven commercial monoclonal antibodies in brains of subjects with Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, multiple sclerosis with incidental Lewy bodies and aged-matched normal brain and determined for each antibody the best suited protocol for antigen unmasking. We evaluated the intensity of immunolabelling in Lewy bodies, neuropil threads, dendrites, pre-synaptic terminals, granular cytoplasmic positivity, peri-axonal positivity, glial inclusions and non-specific immunolabelling. Although our results showed that all the antibodies detected alpha-synuclein inclusions, differences were noted between antibodies, particularly with regard to the detection of glial inclusions. From our study, the best antibodies of the seven tested appeared to be those directed against amino acids 116-131 and 15-123 and we suggest them to be used in routine diagnostic practice for alpha-synucleinopathies.

Antibodies, Monoclonal↗
PubMed2004

[A case of cerebral coenurosis].

In this article the authors describe a case of cerebral coenurosis, a rare infection caused by the larval stage of the tapeworm Taenia multiceps, encountered during their professional practice. The specific epidemiological elements, linked to the parasitic lifecycle in dogs, will also be covered. The authors consider the diagnostic, pathologic and clinical elements that allow differential diagnosis with respect to neurocysticercosis, a parasitic infection caused by the larval form of other Cestoda, discussing possible medical therapeutic approaches (albendazole or praziquantel) and neurosurgical intervention. They emphasize the need to obtain a correct hystopathological diagnosis in order to achieve a differential diagnosis versus the other larval parasitosis. According to current public health regulations this diagnosis must be reported to the Health Official to allow the necessary epidemiological interventions to be planned.

Albendazole↗
PubMed2001

Chordoid glioma of the third ventricle: an ultrastructural study of three cases with a histogenetic hypothesis.

Chordoid glioma is a rare neoplasm occurring in the third ventricle and, as the name implies, having a chordoid appearance. It is currently considered a glial neoplasm of uncertain histogenesis with distinct clinicopathologic features. We report three cases of chordoid glioma with a focus on the ultrastructural appearance. The patients were two men and one woman aged, respectively, 34, 40, and 43 years. Immunohistochemically, all tumors showed strong and diffuse reactivity for glial fibrillary acidic protein and vimentin, whereas immunoreactivity for epithelial membrane antigen and cytokeratin was focal. Ultrastructurally, they showed features of ependymal differentiation for the presence of an apical pole with microvilli and a basal pole characterized, as in normal ependyma, by many hemidesmosomelike structures connecting cell membranes to the underlying basal lamina. Constant features were a submicroscopic cell body zonation (i.e., perinuclear, intermediate, subapical, and apical regions) and the presence of secretory granules. These findings were similar to those described for the secretory ependymal cells of the subcommissural organ, a small structure located in a dorsocaudal region of the third ventricle that undergoes regression after birth in humans. Our observations suggest that chordoid glioma may represent a subtype of ependymoma whose cells resemble the highly specialized ependyma of the subcommissural organ.

Adult↗
PubMed2001

Lipomatous meningioma: a clinicopathologic study of 18 cases with special reference to the issue of metaplasia.

We report 18 cases of lipomatous meningioma occurring in patients aged 14 to 79, most being females (72%). Sixteen were supratentorial and 2 involved the spinal meninges. Follow-up ranged from 1 to 120 months. Fifteen patients were cured with surgery alone and 3 (17%) experienced a recurrence at 7, 8 and 24 months. Of these, one died with disease 4 years after resection of the primary lesion. Histologically, 12 tumors were meningothelial, 3 transitional, 2 showed myxoid stromal changes and 1 was microcystic. The 2 spinal tumors were atypical. The proportion of fatty cells ranged from 10 to 90%. These resembled mature adipocytes or less commonly lipoblasts. Xanthomatous meningothelial cells were also noted in 6 tumors (30%). Both conventional meningothelial as well as lipid-laden cells exhibited epithelial membrane antigen immunoreactivity. In addition, occasional cells resembling mature adipocytes showed reactivity for S-100 protein. Ultrastructurally, lipidization of neoplastic cells varied from intracytoplasmic lipid droplets to a single massive globule. Moreover, lipid-laden meningothelial cells featured interdigitating cell membranes and well-formed desmosomes. Lipid droplets were not membrane-bound. In that metaplasia denotes differentiation of one mature cell type to another, lipid accumulation in meningiomas cannot be considered true metaplasia since their lipid-laden cells retain the immunophenotype and ultrastructural features of meningothelium. We suggest that this distinctive subset of meningiomas be termed "lipidized meningiomas" rather than being included in the metaplastic category.

Adolescent↗
PubMed2001

Mature teratoma of the middle ear.

OBJECTIVE: The authors report a case of mature teratoma of the middle ear in a 3-year-old girl with a 1-year history of otitis media. METHODS AND RESULTS: Radiologic investigation revealed a partially cystic lesion of the petrous portion of the right temporal bone. It produced opacification of the middle ear as well as destruction of septal air cells. The patient underwent a subtotal petrosectomy. Histologically, the tumor was composed of an intimate admixture of mature tissues representing all three germ layers, including brain, myelinated nerve trunks, skeletal muscle, bone, immature cartilage, seromucinous glands, and respiratory epithelium. Of note within the brain tissue was choroid plexus within an ependyma-lined rudimentary ventricle. Immunohistochemical studies were also performed. Twenty months after surgery, the patient was well, with complete recovery from symptoms. CONCLUSION: Teratomas of the middle ear are rare neoplasms. Only a few examples have been reported. As a rule, they are cured by resection and do not require adjuvant therapy.

Adipose Tissue↗
PubMed2001

Occipital aneurysmal bone cyst secondary to eosinophilic granuloma.

We describe the case of a 2-year-old male patient with an aneurysmal bone cyst (ABC) of the occiput secondary to unifocal eosinophilic granuloma (EG). The lesion presented as a painless mass of the scalp which had grown rapidly over the 2 weeks prior to admission. Radiologically, the lesion was osteolytic and multicystic with fluid-fluid levels. On histology, the cyst wall contained hemosiderin-laden histiocytes, spindle cells, multinucleated giant cells, Langerhans' cells and eosinophils. Surgical treatment consisted of en bloc resection. Fourteen months after surgery, the patient was well with no local recurrence. Association between EG and ABC is rare. To our knowledge, this is the first case involving the skull.

Bone Cysts, Aneurysmal↗
PubMed2001

Primary polymorphous hemangioendothelioma of the spinal cord. Case report.

A case of polymorphous hemangioendothelioma of the spinal cord is described. This 55-year-old woman presented with an 18-month history of lower-extremity sensorimotor deficit. A magnetic resonance image revealed an enhancing, intradural, extramedullary nodule at the T 1-2 level. On gross inspection, the lesion measured 3.5 cm and was firmly attached to spinal cord parenchyma and adjacent nerve roots. It was completely removed. Fourteen months after surgery the patient's neurological deficit had resolved. Polymorphous hemangioendothelioma is a rare vascular tumor of borderline malignancy. Most occur in lymph nodes. None has been reported to occur in the central and peripheral nervous system. Based on current experience, resection and close follow up seems the best therapeutic approach.

Female↗
PubMed2000

Primary neuroendocrine carcinoma with ganglion cell differentiation in a crural lymph node.

A primary neuroendocrine carcinoma with ganglion cell differentiation is described in a crural lymph node. The patient, a 48-year-old woman, presented a palpable lymph node of the crural region in March 1994. Histologically, the lesion was composed mostly of small cells immunoreactive for cytokeratins, neuron specific enolase and synaptophysin. The small cells merged gradually with areas containing ganglion cells immersed in a fibrillar matrix resembling neuropil. Ganglion cells expressed neuron-specific enolase, synaptophysin, neurofilament proteins and S-100 protein. Moreover, a minority of them featured cytokeratin expression. Electron microscopy was performed in the small cell component. These cells featured attenuated desmosomes and electron dense granules with an average size of 120 nm within bundles of intermediate filaments. Clinically, no tumour was found elsewhere despite extensive work-up over the 76-month follow-up period. Although similarities with previous cases of primary neuroendocrine carcinoma of lymph node, ganglion cell differentiation has never been described.

Carcinoma, Neuroendocrine↗
PubMed2000

Multiple hemangiomas (hemangiomatosis) of the cauda equina and spinal cord. Case report.

A case of multiple hemangiomas of the cauda equina nerve roots, conus medullaris, and lower spinal cord is described. The 74-year-old male patient presented with a 9-month history of progressive bilateral leg weakness. He had a history of lymphoma at the age of 39 years and renal cell carcinoma in his early 40s. Neither disease was evident at the time of this presentation. A magnetic resonance image revealed multiple enhancing nodules in the cauda equina region as well as on the pial surface of the lower thoracic spinal cord and conus medullaris. The patient underwent an L2-3 laminectomy. Cauda equina nerve roots were found to be studded with numerous purple nodules, the largest measuring 6 to 8 mm. The nodules were adherent to nerve roots from which they could not be resected. Two lesions were histologically examined and found to be capillary hemangiomas. Twelve months into an uneventful postoperative course, the patient is neurologically unchanged. This unique case might represent a distinct form of hemangiomatosis confined to the cauda equina nerve roots and spinal cord.

Aged↗
PubMed2000

Capillary hemangioma of the spinal cord. Report of four cases.

The authors describe the clinicopathological features of four cases of capillary hemangioma of the spinal cord. All occurred in adult patients. The presenting symptoms were similar to those of more common intramedullary tumors. Radiologically, they resemble other vascular spinal cord tumors. All patients underwent surgery, and the outcomes varied. Histologically, the lesions resembled capillary hemangioma of skin or of soft tissue that is composed of lobules of small capillaries with associated feeding vessels, all enveloped by a delicate fibrous capsule. Capillary hemangiomas of the central and peripheral nervous system are extremely rare. Although examples of these lesions have been described as occurring in the dura mater and in peripheral nerve, including spinal nerve roots, none has occurred within the spinal cord. Knowledge of their existence may help practitioners to avoid misdiagnosis of tumor and resultant overtreatment of these benign lesions.

Adult↗
PubMed1999

Cytogenetic investigation of chordomas of the skull.

We report the first cytogenetic investigation of cranial chordoma. Three cranial chordomas were examined, two of which could be further histopathologically classified as chondroid chordomas. In addition, we have included a case of chordoma of a cervical vertebra to compare the cytogenetic abnormalities. Diagnosis was made at histological and immunohistochemical levels. The three cases of cranial chordoma showed a normal karyotype, while one vertebra showed 46,XY,t(6;11)(q12;q23). Chordomas, particularly those containing cartilage, have to be distinguished from chondrosarcomas of the skull base. Such a distinction is normally based on expression of epithelial markers which usually are lacking in chondrosarcoma. Cytogenetic investigation may eventually prove to be useful in the distinction of the two lesions, if chromosome anomalies are consistently absent in chordoma, although some chondrosarcomas may also present a normal karyotype. Such a distinction has clinical implications because chondroid chordomas show better survival, whereas chondrosarcomas show a propensity to infiltrate the surrounding tissues.

Adult↗
PubMed1999

Hemangioma of spinal nerve root.

OBJECT: Hemangiomas of the spinal nerve roots are rare. Only 12 cases have been reported in the literature, all since 1965. These lesions occurred in adults, primarily in males, and were located in the cauda equina. Of the 12 lesions, eight were cavernous hemangiomas. The authors report here the clinicopathological features of 10 cases of hemangioma of the spinal nerve root, nine of which were of the capillary type. METHODS: The group included six men and four women who ranged in age from 40 to 62 years. The majority of patients presented with pain and weakness. One patient also experienced worsening of pain during menses. In all cases, gadolinium-enhanced magnetic resonance imaging or computerized tomography myelography demonstrated a discrete intraspinal extramedullary mass. Administration of contrast agent resulted in uniform, intense enhancement. A gross-total resection was achieved in all but one case; in most cases, it was necessary to sacrifice the parent nerve root. Preoperative symptoms and signs improved in nine cases. On histological examination, all but one tumor, a spindle-cell hemangioendothelioma, were shown to be ordinary capillary hemangiomas. Two lesions exhibited a cavernous component, and five showed a partly solid growth pattern resembling juvenile capillary hemangioma. In all cases, the relationship with the nerve root was histologically confirmed. The tumor-nerve relation varied. The intact nerve was displaced by the epineurial mass in three cases. The fascicles appeared separated in six cases, and individual nerve fibers were seen throughout one lesion with endoneurial involvement. CONCLUSION: . Hemangiomas of spinal nerve roots pose a challenging diagnostic problem. Knowledge of their existence is relevant in that they may mimic tumors and are amenable to surgical treatment.

Adult↗
PubMed1999

[Quality control of the "M. Malpighi" Anatomy, Histology, and Pathologic Cytology Section, Oncology Department, University of Bologna, Bellaria Hospital].

The quality control scheme in use at the Department of Anatomic Pathology of the University of Bologna-Bellaria Hospital Since 1993 a quality assurance (QA) scheme has been set up in our Department, modified from the protocol in use at the Department of Pathology of Yale University and published by J. Rosai in his textbook. A QA committee has been appointed and each member is responsible for a specific branch of the total workload; the areas involved are: 1. review of frozen section diagnoses with the final diagnoses 2. randomized review of biopsies (1:25) 3. quality control of cytological cases 4. quality control of specimen adequacy 5. quality control of immunohistochemistry and in situ Hybridization 6. quality control of the cytogenetics laboratory 7. quality control of autopsies All data collected from january 1996 to february 1999 have been reviewed and analyzed in order to provide references for other laboratories and for the purpose of monitoring our laboratory' performance.

Hospitals, University↗