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Biomedical subjects

G M Di Lella

Publications and source records attributed to G M Di Lella.

9 recordsLinked to original sources

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.

Adult↗

Metastatic lymphadenopathy from ENT carcinoma: role of diagnostic imaging.

Problems concerning the use of different imaging modalities in N staging of the neck are dealt with. The peculiar features, findings, sensitivity, specificity and diagnostic accuracy of each modality in the diagnosis of nature of cervical lymphadenopathy are described, as reported in most recent reports of literature, and according to the personal experience. CT/MRI criteria commonly used to establish whether a lymph node is metastatic or benign/reactive are related to the size, morphology, density (CT), signal intensity (MRI), evidence of central necrosis and extracapsular spread. Color Doppler US is a reliable method in the diagnosis of cervical metastatic lymphadenopathy even if no parameter is highly predictive; the combination of different findings, especially cortical thickening and structural inhomogeneity with thin, compressed, displaced or non visualized hilum makes the procedure significantly sensitive and specific. Intranodal hilar vascularization on color Doppler, with high resistance arterial flow (PI > 1.5), enhances the predictive value of findings of bi-dimensional sonography. Extracapsular spread impacts on survival as well as on the number of recurrences, which increases in patients with extracapsular spread; the disease-free interval is less in these patients. The identification and definition of extracapsular spread is based on some CT/MRI criteria as: 1) lymph nodes with spiky, irregular margins; 2) loss of adipose cleavage planes around the node and thickening of adjacent fascia; 3) apparent invasion of an adjacent structures or muscles. Similarly to CT/MR, sonographic findings of extracapsular spread can be: 1) blurred margins and irregular contours; 2) invasion of an adjacent structure or muscle.

Diagnostic Imaging↗

Tumors of cerebral hemispheres.

Pediatric brain tumors are substantially represented by neuroepithelial neoplasms. If intraventricular tumors are excluded, diagnostic imaging can be referred to 3 main types: gliomas, neuronal and mixed tumors, embryonal tumors. Following a short review of the various neuroimaging procedures, CT and MRI findings of most common pediatric hemispheric neoplasms, are described. Neuroradiologic findings supply a satisfactory "characterization" of the neoplasm. They are at times so specific as to achieve a univocal diagnostic hypothesis. More frequently, only a likely histologic hypothesis is achieved based on the combination of neuroimaging and clinical findings. Finally, the role of diagnostic imaging is underlined, being important in the definition of the relationships between hemispheric tumors with some "critical" areas, because of "functional" relevance, and in the identification of the site and pattern of infiltration which impact on prognosis and treatment.

Adolescent↗

Doppler US in interventional neuroradiology.

Doppler ultrasonography and transcranial Doppler ultrasonography can be applied to the study of the hemodynamic aspects of cerebrovascular disease curable with intravascular therapy. There are three stages where Doppler ultrasonography is considered appropriate: 1) in the diagnosis of cerebrovascular disease to study its hemodynamics and support the therapeutic approach; 2) during the interventional procedure to assess the hemodynamic modifications while therapy is administered; 3) in posttreatment control and in follow-up. The role and findings of transcranial Doppler ultrasonography and Doppler sonography in cerebral arteriovenous malformations, in dural arteriovenous malformations, in arteriovenous fistulae of large vessels in cerebral aneurysms and in steno-obstructive disease, are considered.

Cerebrovascular Circulation↗

Diagnostic imaging of neurotuberculosis.

Neurotuberculosis is represented by different and possibly concomitant forms, of which the most frequent are tuberculous meningitis and parenchymal tuberculosis followed by cerebral miliary tuberculosis and the extremely rare tuberculous abscesses. Tuberculous meningitis is characterized by the presence of inflammatory meningeal exudate involving meningeal surfaces and CSF spaces with involvement of relative vascular and nervous structures. Most frequent complications are parenchymal infarction, hydrocephalus and mycotic aneurysms. Inflammatory meningeal exudate shows intense contrast enhancement. Parenchymal tuberculosis may directly involve the cerebral and/or medullary parenchyma as areas of cerebritis/myelitis with solid nodular lesions (tuberculomas) with a central area of caseating necrosis. Tuberculomas are characterized by intense nodular or ring enhancement.

Diagnostic Imaging↗