Biomedical subjects

E Arbustini

Publications and source records attributed to E Arbustini.

166 records · Page 10Linked to original sources

PubMedDate not supplied

Detection of Epstein Barr virus in formalin-fixed paraffin tissues by fluorescent direct in situ PCR.

Specific viral laboratory diagnosis of primary Epstein-Barr Virus (EBV) infection is usually based on antibody-detection assays. However, molecular detection is also considered the reference standard assay for diagnosis of central nervous system infections and of most cases of nasopharyngeal carcinoma (NPC). One-step or nested polymerase chain reaction (PCR) has rapidly replaced immunological assays based on virus-specific Ig antibodies for the laboratory diagnosis of Herpesvirus infections, even if serological methods are considered an additional tool for defining clinical diagnosis. In this article, we will present a rapid, sensitive and robust molecular tool for the viral detection of EBV (EBNA-1) within tissue specimens by making use of in situ PCR (IS-PCR).

Formaldehyde↗

PubMedDate not supplied

Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient.

We describe a case in which nodular macroglossia, a very rare type of tongue involvement, was associated with the co-deposition of lambda light chain and beta-2 microglobulin fibrils in the tongue. The combined presence of two different amyloid fibrils did not lead to a more unfavourable clinical outcome. We believe that both these features often remain underdiagnosed and are in fact more frequent than reported. A careful clinical examination of the tongue together with serum immunofixation should be routine in all patients with dialysis-related amyloidosis in order to investigate the prevalence and type of tongue involvement and to rule out other types of amyloidosis. In all cases of suspected mixed amyloidosis, immunohistochemical characterization of fibrils should be carried out by electron microscopy.

Amyloidosis↗

PubMedDate not supplied

Familial AL-amyloidosis in three Italian siblings.

BACKGROUND AND METHODS: Familial occurrence of immunoglobulin-related (AL) amyloidosis has occasionally been reported. In this work we describe the concomitance of systemic amyloidosis and monoclonal gammopathy (one case of Waldenström's macroglobulinemia and two cases without multiple myeloma or related diseases) in three Italian siblings, two males and one female. RESULTS AND CONCLUSIONS: All of them showed a common pattern of polyneuropathy to different degrees; two presented a sicca syndrome and one also suffered from nephropathy. Two of them showed the same HLA typing with the same light chain type (k), but had different presenting symptoms. Polyneuropathy and a history of peptic disease in two cases was suggestive of type III familial amyloidotic polyneuropathy (FAP) occurring in the setting of a familial monoclonal component. However, immunohistochemical studies on different tissue specimens using anti-apolipoprotein A1 and anti-transthyretin antibodies were negative. Further screening of DNA samples for transthyretin (TTR) gene mutations was also negative. Clinical and laboratory investigations ruled out reactive or senile amyloidosis and immunohistochemical studies with anti-light chain antibodies on amyloidotic tissue specimens were positive. As a consequence, this family represents a new case of familial AL-amyloidosis.

Aged↗

PubMedDate not supplied

[A case of occupational pulmonary siderosis: the pathogenetic and prognostic considerations].

Pulmonary siderosis is a disease which can be considered with the pneumoconioses of the so-called inert dust (either by deposit or by accumulation) and, from the earliest nosographic descriptions dating back to the thirties and forties, it has been substantially considered a benign form because of the scarce sclerogenic evolution and the preservation of discrete respiratory function. We present a case of pulmonary siderosis characterized on one hand by the importance and clarity of the cytopathological picture and on the other by the presence of changes, although modest, in lung function which confirm the most recent hypotheses in the literature on the potential evolution of pneumosiderotic diseases and their relatively less benign prognosis. From a preventive point of view the case draws attention to the need for greater control of environmental hygiene conditions in small factories. From an insurance and medico-legal point of view siderosis has recently been explicitly added to the occupational diseases which can be declared to the Italian state department dealing with occupational disease and disability payments (I.N.A.I.L.) (DPR of the 13.04.1994, section 47).

Bronchoalveolar Lavage Fluid↗