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Biomedical subjects

R De Marchi

Publications and source records attributed to R De Marchi.

At least 19 recordsLinked to original sources
PubMed1999

Characterization of ligurian melanoma families and risk of occurrence of other neoplasia.

Germline mutations impairing the p16(INK4)-function have previously been demonstrated to be responsible for genetic predisposition in at least one half of melanoma-prone kindreds of North European origin. Familial melanoma kindreds have also been found to present an increased risk of pancreatic cancer and other cancers, but results relative to more common neoplasias incidence, in particular, are heterogeneous. We report here a clinical-epidemiological study, including the presence of additional neoplasias, in 14 apparently unrelated kindreds coming from a small geographic region of Northern Italy (Liguria), having therefore lived for generations in similar environmental conditions. We identified the common p16 missense mutation (Gly101Trp) reported in several previously studied kindreds, in 7 of 14 families, whereas the remaining 7 families had no detectable mutations in the coding region of p16 gene. Median age at diagnosis and other melanoma features were studied. When compared with the expected figures, based on regional incidence rates, a significant excess of pancreatic cancer, with 4 cases diagnosed, and of breast cancer, with 7 cases, was observed. The 7 families without apparent CDKN2A involvement were also negative for hot-spot exon 2 mutation of CDK4. Environmental factors do not appear to play a role in the excess of non-melanoma neoplasia in our families, as somewhat substantiated by the control group, composed of spouses and members of non-affected branches; they do not reveal any increased cancer incidence compared with the general population. Furthermore, given the proven significance of interaction between the melanoma susceptibility gene and the propensity to sunburns and other environmental risk factors, our results, obtained from a small but homogeneous sample, may have important implications for further risk assessment studies.

Adolescent↗
PubMed1998

Cutaneous mucinoses and HIV infection.

In the last few years cutaneous mucinoses have been reported with increased frequency in HIV patients. We report the occurrence of scleredema, reticular erythematous mucinosis and lichen myxoedematosus in three different HIV-infected patients, review the literature and discuss the possible relationship between mucin deposits and HIV infection. This is the first report of scleredema and the second of reticular erythematous mucinosis in an HIV-infected patient. Only the association of HIV infection with lichen myxoedematosus seems to be more than coincidental.

Adult↗
PubMed1995

[Lichen planus and thymoma. A case].

INTRODUCTION: Lichen planus is a chronic inflammatory disease of the skin, rarely associated with a thymoma. CASE REPORT: A 72-year-old woman with erosive buccal lichen, hypertrophic lichen planus of the lower limbs, severe myasthenia and acquired hypogammaglobulinaemia associated with thymoma. CD8 lymphocyte count was increased. In the months following surgical ablation of the thymoma, the clinical examination and laboratory findings progressively returned to normal. Two years later, the patient was in good health. DISCUSSION: To our knowledge, this is the first report of favourable outcome after surgical treatment despite the aggressive symptomatology. The particular outcome allow confirmation that the thymoma plays a causal role in this syndrome and emphasizes the effects a thymoma can have on the immune system.

Agammaglobulinemia↗
PubMed1994

[Necrotizing vasculitis induced by cytomegalovirus in a woman with acquired immunodeficiency syndrome].

INTRODUCTION: Skin lesions induced by cytomegalovirus are rare and usually non-characteristic. CASE REPORT: A 32-year-old women with AIDS developed about twenty unpainful ulceronecrotic lesions on the extension aspect of the members and the trunk. Histology examination and in situ hybridization favoured cytomegalovirus infection of the skin. DISCUSSION: Despite the exceptional nature of this case, this particular clinical presentation should be recognized as it could be useful for early diagnosis of cytomegalovirus infection in immunodepressed subjects.

AIDS-Related Opportunistic Infections↗
PubMed1992

Cutaneous cryptococcosis resembling molluscum contagiosum in a homosexual man with AIDS. Report of a case and review of the literature.

A 43-year-old homosexual man with the Acquired Immunodeficiency Syndrome (AIDS) developed cutaneous molluscum contagiosum-like lesions on face, ears, neck, hands and feet. He was admitted to our unit with fever, malaise and headache. Cytologic examination of skin brushing revealed numerous encapsulated budding yeasts, identified as Cryptococcus neoformans. Such a finding calls for a cytologic examination of skin lesions in patient with AIDS who present with fever and headache, in order to rule out a potentially life-threatening fungal infection.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Linear pemphigus vulgaris after X-ray irradiation.

The authors report the case of a 64-year-old female with a pemphigus vulgaris that relapsed on her left cheek following X-irradiation. The lesion developed not only on the irradiated area but also along a linear streak. Blaschko lines seem to represent the linear systematization pattern more likely to account for this unusual distribution.

Carcinoma, Squamous Cell↗
PubMedDate not supplied

KSHV sequences in biopsies and cultured spindle cells of epidemic, iatrogenic and Mediterranean forms of Kaposi's sarcoma.

The pathogenesis of Kaposi's sarcoma (KS) is still unclear, and several factors appear to be involved in the onset of the Kaposi's lesion. Epidemiological studies suggest that a common infective agent may contribute to KS. Sequences which appear to represent a new gammaherpesvirus, currently termed KSHV/HHV8, have recently been identified in KS. To further examine the relationship between this virus and KS, we obtained biopsy samples of KS lesions; these samples, the spindle cells cultured from these lesions and the PBMC of the same patients were tested for the presence of KSHV sequences by PCR. In addition, we tested several "late passage" KS spindle cell lines as well as control samples. The biopsy samples were from lesions of the following forms of KS: one sporadic KS, two epidemic KS and three iatrogenic KS, one of which was in the process of regressing after reduction of immunosuppressive therapy, and two that were at different stages (patch and nodular) from a single patient. The sporadic KS specimen was positive, as were the PBMCs from this patient, and cells grown from this biopsy appeared to contain KSHV viral sequences up to the fifth passage. Both epidemic KS biopsies were positive, but in these cases KSHV sequences were not detected in the cultured cells. The biopsy from the regressing iatrogenic KS lesion was negative, as were the cells cultured from this lesion. However, the PBMCs of this patient were weakly positive for KSHV at the time of biopsy, and PBMCs collected from this patient one month later were completely negative. The samples of both the patch and the nodular KS lesions obtained from another immunosuppressed patient showed amplifiable sequences of KSHV, but both the PBMCs of this patient and primary KS cell cultures from these biopsies were negative. Of the late-passage KS lines tested, only one, IST AIDS KS 12, was positive for KSHV. This line is derived from an early angiomatous-macula lesion. Taken together, these data suggest that an active KSHV infection is associated with KS and that elimination of KSHV from the lesion precedes regression of the lesion, strongly correlating KSHV with KS. In addition, early KS lesions may have a higher KSHV burden, or contain cells more susceptible to KSHV infection, further linking KSHV to KS.

Aged↗
PubMedDate not supplied

[Lyme disease].

Explore the source record for details and available documents.

Anti-Bacterial Agents↗