IgA pemphigus of the subcorneal pustular dermatosis type associated with monoclonal IgA gammopathy.
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Biomedical subjects
Publications and source records attributed to G Fumo.
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Ofuji papuloerythrodema is a rare type of dermatosis marked by an erythrodermic manifestation which is intensely pruritic and results from the coalescing of brownish papules which in the main do not involve the great folds. The authors present the case history of a 72-year-old female, whose dermatosis appeared 8 years after the diagnosis of malignant lymphocytic lymphoma. The Authors describe the clinical and histopathological picture, illustrating the laboratory results and stressing the importance of the association of the two pathologies in a possible nosological overview.
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A method to perform site-directed random mutagenesis directly in the yeast chromosomal DNA at the iso-1-cytochrome c-encoding gene locus (CYC1) is described. To test the effectiveness of the random mutagenesis procedure, the heme ligand His18 was mutated to Ala (H18A), rendering cytochrome c (Cyc) nonfunctional. Random mutagenesis was performed by transforming yeast cells with a synthetic oligodeoxyribonucleotide (oligo) that randomizes the codon for His18. The transformed cells were then selected for reversion to a functional Cyc on selective media. Ten functional mutants were recovered, all of which had integrated the synthetic oligo. Sequencing showed that five of the recovered mutants carried the His codon, CAU, and five mutants contained the His codon, CAC. Because Arg had previously been found as a heme ligand, this mutant was produced by standard techniques and integrated into the yeast chromosome. These yeast did not produce a holo cytochrome c that was detectable by low-temperature spectroscopy. To develop a selection for nonfunctional Cyc, competent yeast (which lack the ability to synthesize tryptophan) were cotransformed with a plasmid carrying the TRP1 gene and the random oligo, and were plated on media lacking tryptophan. Of the 1200 colonies that grew, 120 tested negative for the integration of the random oligo, demonstrating that this particular selection for nonfunctional protein is not feasible. A method is thus described for directed, random mutagenesis directly in the yeast chromosome that can be used to probe structure/function relationships in Cyc. Only His can act as a heme ligand at position 18, using the functional selection described here.
Between May 1985 and July 1990, 45 patients (pts.) with primary (39) or recurrent (6) soft tissue sarcomas of the extremities (82%), torso (11%) and head and neck (7%) were treated with radiation therapy and conservative surgery. Seven pts. not amenable to conservative surgery underwent preoperative radiation therapy whereas 38 pts. underwent local excision and post-operative radiation therapy. Out of the 38 pts. managed by postoperative radiation, 24 (63%) showed negative surgical margins and 14 (37%) positive margins, their tumor being adjacent to vital structures. Preoperative radiation allowed conservative surgery in all 7 pts. with initially inoperable tumor; surgical margins were negative in 5 and positive in 2 pts. Twenty-six pts. (58%) had tumor greater than or equal to 5 cm (5-24) and 19 (42%) less than 5 cm (2.5-4.5) in diameter. High grade tumors (G2-G3) were reported in 41 pts. (90%). In pts. treated postoperatively the radiation dose was 64-66 Gy/32-33 fractions and the pts. treated preoperatively received a dose of 50 Gy/25 fractions. Median follow-up was 33 months and all pts. had a minimum follow-up of 12 months (12-72). Three pts. (6.5%) had local failure and 9 (20%) developed distant metastases with local tumor control. All distant metastases occurred in AJC stage IIIB, 9/18 (50%), with an increased frequency by tumor size. Overall local control and disease free survival rates at 5 years (product-limit method) were 93% and 73%, respectively. An evident decrease in disease-free survival rate (33%) was noted for stage IIIB pts.(ABSTRACT TRUNCATED AT 250 WORDS)
In order to evaluate whether lymphokine (LK) release is impaired in patients with lepromatous leprosy (LL), the production of two LKs, namely leukocyte inhibitory factor (LIF) and interleukin-2 (IL-2) from peripheral blood mononuclear cells of LL individuals was investigated. Results show that in eight patients CD4+ cells exhibit a reduced release of LIF, while CD8+ lymphocytes are still able to secrete this LK. In the remaining three patients both CD4+ and CD8+ cells produced LIF as do normal lymphocyte subpopulations. As far as IL-2 release is concerned, all patients fail to produce the above LK either using purified CD4+ or CD8+ lymphocytes. These data emphasize additional defects in immune responsiveness in leprosy.
Twenty three patients with lepromatous leprosy (LL) not in reactional phase and bacteriologically negative were evaluated for their immune status (T cell frequency and interferon gamma production). In six patients with deficits of both immune parameters, a synthetic thymic extract (TP-5) was administered. At the end of the treatment, a full recovery of immune dysfunction was observed. In the light of these results, the efficacy of TP-5 as an immunomodulating agent in LL patients is discussed.
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