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Biomedical subjects

R Cavalieri

Publications and source records attributed to R Cavalieri.

At least 19 recordsLinked to original sources

Primary cutaneous CD30+ T-cell lymphoma responsive to topical imiquimod (Aldara).

CD30+ anaplastic large cell lymphoma is a primary cutaneous lymphoproliferative disorder with a high rate of spontaneous regression (almost 25%). The suggested therapies are radiation, surgery and methotrexate. We describe two patients with nonregressing primary cutaneous CD30+ T-cell lymphoma that was successfully treated with topical imiquimod 5% cream (Aldara, 3M) three times weekly for 6 weeks. In both cases we obtained complete clinical remission, confirmed by histology. No recurrences were observed during the following 8 months. We consider that topical application of an immune response modifier, such as imiquimod, could be a good alternative to other potentially more dangerous or aggressive treatments.

Administration, Topical↗

UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.

Molecular analysis of p53 and patched (PTCH), two candidate tumor suppressor genes for non-melanocytic skin cancer, was performed in skin tumors from six patients affected by the cancer-prone disease xeroderma pigmentosum (XP). UV-specific p53 mutations were detected at a frequency of 38-50% in all the tumor types analysed, including melanomas. Additional analysis of PTCH mutations in the subset of eight basal call carcinomas (BCC) revealed a very high mutation frequency of this gene (90%) which exceeded that detected in the p53 gene in the same tumors (38%). PTCH mutations were predominantly UV-specific C>T transitions. This mutation pattern is different from that reported in BCC from normal donors where PTCH mutation frequency is 27% and mutations are frequently deletions and insertions. These findings suggest that PTCH mutations represent an earlier event in BCC development than p53 alterations and that the inability of XP patients to repair UV-induced PTCH mutations might significantly contribute to the early and frequent appearance of BCC observed in these patients.

Adult↗

Livedo vasculopathy vs small vessel cutaneous vasculitis: cytokine and platelet P-selectin studies.

OBJECTIVE: To assess the role of platelets and lymphocyte-related immunological mechanisms in livedo vasculopathy (LV) and cutaneous small vessel vasculitis (CSVV). Livedo vasculopathy is thought to be related to the thrombotic occlusion of small and medium-sized dermal vessels. Cutaneous small vessel vasculitis comprises a heterogeneous group of disorders in which the main pathogenetic events could be modulated by circulating cytokines. DESIGN: Case series study of 2 groups of patients affected respectively with LV and CSVV. SETTING: A large clinical and research institute for the study and treatment of cutaneous diseases. PATIENTS: Consecutive patients with clinically and histologically proved idiopathic LV (n = 8) and CSVV (n = 20) were studied and compared with healthy donors (n = 20). Patients with potentially correlated systemic diseases were excluded. MAIN OUTCOME MEASURES: Surface expression of platelet P-selectin and circulating level of interleukin (IL) 1beta, tumor necrosis factor alpha (TNF-alpha), IL-8, IL-2, and soluble IL-2 receptor. RESULTS: The IL-2 and soluble IL-2 receptor levels were significantly higher in serum samples from patients with both LV (1.24 +/- 0.46 IU/mL [mean +/- SD] vs 0.46 +/- 0.24 IU/mL, P<.001; 899 +/- 368 IU/mL vs 628 +/- 132 IU/mL, P<.02) and CSVV (0.91 +/- 0.57 IU/mL, P<.02; 1087 +/- 451 IU/mL, P<.001) than in those from the healthy controls. The serum levels of IL-1beta, TNF-alpha, and IL-8 were higher in patients with CSVV than in controls (7.53 +/- 6.7 pg/mL vs 4.58 +/- 2.72 pg/mL; 23.7 +/- 12.6 pg/mL vs 10.82 +/- 2.46 pg/mL, P<.001; 37.8 +/- 46 pg/mL vs 8.25 +/- 3.53 pg/mL, P<.02, respectively). No significant difference in the serum levels of IL-1beta (7.2 +/- 4.9 pg/mL), TNF-alpha (12.9 +/- 3.47 pg/mL), and IL-8 (5.9 +/- 4.13 pg/mL) was observed in patients with LV compared with controls. An increased expression of platelet P-selectin was also detected in patients with LV in comparison with controls and patients with CSVV. The mean +/- SD percentage of positive cells for P-selectin was 43% +/- 5% in the patients with LV, 5.1% +/- 2% in the controls (P<.001), and 5.3% +/- 2% in the patients with CSVV (P<.001). CONCLUSIONS: Taken together, these data demonstrate that different pathogenetic mechanisms are operative in LV and CSVV. In fact, platelet and lymphocyte activation is present in LV, whereas the levels of inflammatory mediators are in a normal range. In CSVV, the high serum levels of proinflammatory cytokines suggest that they are actively involved in the pathogenesis of cutaneous vasculitis.

Adult↗

Koebner phenomenon in an ANCA-positive patient with pyoderma gangrenosum.

A male with pyoderma gangrenosum is reported. The clinical and histological features were typical. The initial lesions resolved with characteristic cribriform scars. A few days after the complete recovery, he developed several necrotizing focal lesions localized to the scarred areas. A further histological examination revealed a granulation tissue rich in neutrophils and signs of necrotizing vasculitis. We found a high titer of circulating perinuclear antineutrophil antibodies (p-ANCA), which are a serological marker for various systemic diseases. An immunological circulating factor has been repeatedly suggested to be the "primum movens" of pyoderma gangrenosum. We discuss the unusual clinical presentation interpreted as a Koebner phenomenon and the possible role of immune factors in enhancing circulating-endothelial cell interactions in relation to the pathogenesis of pyoderma gangrenosum.

Antibodies, Antineutrophil Cytoplasmic↗

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

We recently demonstrated strong genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa. In this study, we searched for mutations in dominant dystrophic epidermolysis bullosa using polymerase chain reaction amplification of segments of COL7A1, followed by heteroduplex analysis. Examination of the polymerase chain reaction corresponding to exon 73 revealed a heteroduplex resulting from a G-to-A transition at nucleotide 6127 in the triple-helical domain of COL7A1, which converted a glycine residue to an arginine (G2043R). The dominant dystrophic epidermolysis bullosa phenotype in this family probably arose because of a dominant negative effect of this mutation in COL7A1, resulting in the formation of structurally abnormal anchoring fibrils.

Arginine↗

X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones.

We describe the case of a 13-year-old girl suffering from chondrodysplasia punctata, associated with ichthyosis arranged along Blaschko's lines, follicular atrophoderma, cicatricial alopecia and coarse, lusterless hair. The patient also showed a congenital cataract of the right eye, dysplastic facial appearance and symmetrical shortening of the tubular bones. The pathogenetic concept of functional X-chromosome mosaicism is reviewed as well as the recent results obtained by molecular research that have failed, so far, to solve the problem of regional assignment of the underlying X-linked gene.

Adolescent↗

Time trends in features of cutaneous melanoma at diagnosis: central-south Italy, 1962-1991.

A total of 1360 cases of cutaneous malignant melanoma (CMM) consecutively diagnosed at the Istituto Dermopatico dell'Immacolata (IDI) in Rome, during the period 1962-1991, were reviewed. There was a positive trend of thin (Breslow thickness < 1.49 mm) lesions at diagnosis in comparison to thick lesions, with more severe prognosis (p < 0.05). CMM on the trunk and upper legs increased more than CMM on the face (p < 0.05). There are suggestions that the incidence of CMM in the hospital referral population, resident in Central-South Italy, has been steadily rising. This trend could be due not only to a referral bias related to a growing public concern about "bad moles", but also to a real increase in the incidence of CMM.

Adolescent↗

Cysts in pregnancy discovered by sonography.

The incidence of cysts in pregnancy was established with ultrasound. In 3,330 pregnant patients who underwent sonography, 38 adnexal cystic lesions (1.14%) were found. All but two cysts were discovered before 16 weeks. Follow-up showed that the majority of the cystic lesions resolved spontaneously; these were presumed to represent corpus luteum cysts. Five patients underwent surgery because of persistent cystic lesions; a mucinous cystadenoma, a benign cystic teratoma, a paraovarian cyst, an inclusion cyst, and a tuboovarian abscess were found. Septations and echogenic material were seen within the cystic teratoma and the tuboovarian abscess but the sonographic features of the other operated lesions were identical to those seen in the corpus luteum cysts.

Abscess↗

Gene products of the HLA-D region in normal and malignant tissues of nonlymphoid origin.

Indirect immunofluorescence staining with monoclonal antibodies has shown a differential distribution of HLA-DR, DQ, and DP antigens in normal tissues of nonlymphoid origin. The distribution of HLA-DP antigens is similar to that of HLA-DR antigens, while that of HLA-DQ antigens is more restricted. Malignant transformation of cells of nonlymphoid origin may be associated with the appearance of the gene products of the HLA-D region. HLA-DR antigens appear more frequently than the other two types of HLA class II antigens and HLA-DP antigens more frequently than HLA-DQ antigens. Differential expression of the gene products of the HLA-D region was also found in autologous metastases removed from different anatomic sites from patients with melanoma. The HLA class II phenotype of surgically removed malignant lesions did not correlate with the degree of differentiation of tumor cells and/or with the expression and/or cellular distribution of HLA class I antigens. Furthermore, in melanoma lesions, no relationship was found between the HLA class II phenotype and the expression of 3 membrane bound and 1 cytoplasmic melanoma associated antigen recognized by monoclonal antibodies. The functional significance and the practical implications of the differential expression of the gene products of the HLA-D region by tumor cells are discussed.

Antibodies, Monoclonal↗

Distribution of a cross-species melanoma-associated antigen in normal and neoplastic human tissues.

In previous studies the monoclonal antibody (MoAb) M2590 elicited in C57/BL6 mice with the syngeneic melanoma cell line B16 has been shown to recognize a 31K glycoprotein expressed by human melanoma cell lines. The present study has shown that the MoAb M2590 cross-reacts with surgically removed benign and malignant lesions of melanocyte origin. The reactivity pattern of the MoAb M2590 with these lesions is different from that of the anti-high-molecular weight-melanoma associated antigen (HMW-MAA) MoAb 225.28S, of the anti-115K MAA MoAb 345.134S, and of the anti-100K MAA MoAb 376.96S, which were elicited with human melanoma cell lines. In particular, the MoAb M2590 reacts with blue nevi. The MoAb M2590-defined MAA, like other types of MAA, is heterogeneous in lesions removed from different patients, in autologous lesions removed from different anatomic sites, and in cells within a lesion. The distribution of the MoAb M2590-defined MAA in normal tissues and in tumors of nonmelanocyte origin is broader than that of the HMW-MAA, but is similar to that of the 115K MAA and of the 100K MAA. The results of this investigation suggest that immunization with xenogeneic melanoma cells may broaden the range of specificity of antihuman MAA MoAbs and provide information about the phylogenetic evolution of MAAs.

Adult↗

Epithelioid sarcoma.

Epithelioid sarcoma is a rare malignant tumor of the soft tissues with particular clinical and anatomicopathological characteristics. Histologically it is characterized by the presence of particular epithelioid cells. After a description of a recently observed case, the authors present a synthesis of the literature on the subject, paying particular attention to the clinical and histological aspects which facilitate an early and correct diagnosis.

Adolescent↗

Immunologic identification of papillomavirus antigen in condyloma tissues from the female genital tract.

Paraffin sections of condylomata acuminata removed from the lower genital canal were stained for papillomavirus antigen by th peroxidase-antiperoxidase test using a broadly cross-reactive antiserum. The antiserum was prepared by immunization of a rabbit with disrupted capsids of papillomavirus purified from a pool of plantar warts. Specific staining was seen as a brown granular reaction in the nuclei of the epithelial cells; this reaction occurred most consistently in the more superficial cells. Papillomavirus antigen was demonstrable in about half of the 50 specimens examined. The antigen was found in both flat and papillary lesions from the vulva, vagina, and cervix. The distribution of the antigen was widely variable and ranged from abundant in some specimens to patchy and sparse in others. In papillary lesions, antigen-positive cells were found characteristically at the tips of the epithelial fronds. The ability to detect the viral antigen in genital condylomas may help in understanding the pathogenesis of these lesions and in evaluating the role of papillomaviruses in th etiology of lower genital tract cancer.

Adolescent↗

99mTc-tagged chicken liver as a marker of solid food in the human stomach.

Past measurement of gastric emptying of solid food in man has depended on external counting of surface-absorbed isotopes without verification that isotopic labels remain attached to solid food in the stomach. In this study chicken liver was isotopically labeled with 99mTc incorporated uniformly and intracellularly throughout the liver substance. In vitro studies showed less than 10% loss of 99mTc from liver incubated with pepsin HC1. By contrast, up to 90% of 51Cr absorbed to scrambled eggs became detached under similar conditions. In feeding experiments less than 10% of 99mTc was liberated from fed 99mTc liver, while significantly more 51Cr became detached from egg under identical intragastric conditions. We conclude that 99mTc-tagged chicken liver is an adequate marker of the rate of emptying of solid food and appears to be more reliable than 51Cr-labeled scrambled eggs from which 51Cr dissociates in the stomach.

Animals↗

Paroxysmal "nightmares". Sequel of a stroke responsive to diphenylhydantoin.

A 65-year-old man had nightmares a few weeks after a right temporal lobe infarction. Electroencephalography showed no epileptic activity. Therapy with diphenylhydantoin produced complete remission of his symptoms. On the bases of their acute onset, their association with sleep, their occasional occurrence while the patient was awake, the lack of effect of diazepam and flurazepam, and the good response to diphenylhydantoin, we propose that these episodes were partial seizures secondary to the right temporal lobe lesion.

Aged↗