PubMed HealthSearch

Biomedical subjects

R Cavalieri

Publications and source records attributed to R Cavalieri.

At least 19 recordsLinked to original sources

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

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