Clonal evolution in Philadelphia chromosome negative cells following successful treatment with Imatinib of a CML patient: clinical and biological features of a myelodysplastic syndrome.
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Biomedical subjects
Publications and source records attributed to G Ferranti.
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Gougerot-Carteaud syndrome or confluent and reticulated papillomatosis (CRP), was first described by Gougerot and Carteaud as dermatosis. It is generally considered a rare condition. The eruption consists confluent, flat, brown papules localized primarily to the intermammary and interscapular regions with subsequent spread to the breast and abdomen; at the periphery, the papules spread out forming a pigmented reticulated pattern. At present, the aetiology of CRP remains unknown. The two prominent theories are an abnormal host response to fungi and a keratinization defect. Other hypothesis include photosensitivity, genetic factor, amyloidosis cutis and endocrinopathy.
We describe the clinical and laboratory findings of a young man with mycosis fungoides. The disease was associated, since the early stages, with autoimmune purpura. Interferon alfa (IFN-alpha) administration improved this patient's condition, both the purpuric eruption and patchy cutaneous lesions, thus suggesting T-cell abnormalities may be responsible for the development of the disease.
BACKGROUND: Unwanted body hair can represent a severe cosmetic disturbance. The traditional methods used to epilate often have limitations, side effects, and unsatisfactory results. In recent years, various light sources (lasers and others) have been developed for long-term epilation of unwanted hair. OBJECTIVE: This study evaluates, on a large number of patients, the efficiency and safety of a long-pulsed low-potency Nd-Yag laser invented specifically for long-term hair removal. METHODS: Some 208 subjects needing epilation were divided into three groups and treated during an 11-month period. Group A included 79 patients with a normal distribution of unwanted hair; Group B 67 patients with constitutional hypertrichosis; and Group C 62 patients with hirsutism. Treatment sessions were performed with a fluence of 23-56 J/cm2 at 1-month intervals until obtaining desirable results. Follow-ups ranged from 1 to 6 months. In 3 patients 4-mm diameter punch biopsy specimens were obtained before the first session and again after 6 hours. A third biopsy was performed after 3 months. RESULTS: Every session resulted in a 20-40% hair loss, depending on the color of hair. Complete epilation was obtained in 4 to 6 sessions. Only white hair was not receptive to laser light, and its growth was not modified. No patients, including dark-complexioned patients, had blistering, hypo-or hyperpigmentation. No pain was present during treatment except for the axillary area. In the specimen obtained after 6 hours, very extensive necrosis of the hair follicular and sebaceous gland epithelium was evident. Histologic findings of the biopsies taken after three months showed complete disappearance of hair and moderate fibrosis. CONCLUSION: This study proves that the long-pulsed Nd:Yag laser treatment produces an excellent prolonged epilation with no relevant side effects. This laser light, having a 1064 nm wavelength, is minimally absorbed in superficial skin layers, and pronounced scattering up to 5 mm occurs targeting the deeper follicles.
Apoptosis is a biochemically and morphologically gene-regulated distinctive form of cell death playing a pivotal role in tissue homeostatic, viral infections and clearance of damaged cells. The process is initiated by a cascade of intercellular and intracellular signals through an intrinsic cell suicide program resulting in early DNA fragmentation characterized by nuclear and cytoplasmic condensation. Recently some authors have reported apoptosis to occur in several inflammatory skin diseases, such as lichenoid reactions and cutaneous lymphomas. The aim of our study is to investigate the apoptotic phenomenon in two different forms of cutaneous necrotizing vasculitis (CNV) affecting the postcapillary venules such as leukocytoclastic and lymphocytic cutaneous vasculitis. For this purpose, the in situ nick end labelling of fragmented DNA technique has been performed on lesional skin biopsies from patients with acute phase of the disease. In both leukocytoclastic and lymphocytic forms apoptotic bodies were detected, evidencing two different characteristic patterns of distribution, probably related to the different nature of cellular inflammatory infiltrate. Our results seem to account for the involvement of apoptotic phenomena in cutaneous vasculitis; furthermore, the evaluation of in situ DNA fragmentation could be a useful tool to discriminate different forms of the disease.
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We examined the expression of T cell markers in the peripheral blood of five immunologically normal human fetuses at 18-20 weeks of gestational age. The distribution of T cells expressing CD1, CD3, CD4, CD8, CD56, and the alpha/beta and gamma/delta receptors for antigen was comparable to that of newborns and normal adults, except for the absence of gamma/delta cells expressing the delta TCS-1 epitope. The V beta repertoire, as evaluated by two-color flow cytometry using mAbs to specific V beta families, was also comparable to that of adult samples. A significant fraction (8.9 to 16.4%) of fetal CD3+ T cells expressed the alpha chain of IL-2R (CD25) in the absence of HLA-DR; this suggests that antigenic stimuli trigger, during intrauterine life, an unusual pathway of T cell activation. Consistent with this, 7 to 27% of fetal T cells were found to express the CD45R0 marker of "memory" cells.
530 patients with localised cutaneous melanoma consecutively observed between 1980 and 1991 at a hospital for skin diseases in Rome, Italy, were studied. Crude survival proportions were calculated with the method of Kaplan and Meier. Cox proportional hazards regression analysis was used to estimate the effect of prognostic factors on death rates. Females and younger patients had better 5- and 10-year survival rates, while increasing tumour thickness was associated with a decrease in survival time. In the multivariate analysis, an independent association with survival was found for tumour thickness, presence of ulceration, age, sex and cross-sectional profile of neoplasia. Our study confirms that females and young patients with thin melanomas have a better prognosis, while the importance of cross-sectional profile needs further study.
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.
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One thousand eight hundred eighty-seven children born to human immunodeficiency virus type 1 (HIV-1) seropositive mothers, including 1045 infants prospectively followed up from birth, were studied. Intravenous drug use was the most frequent maternal risk factor, although the percentage of women infected by sexual contact increased from 5.8% in 1985 to 28.5% in 1990. Of the 551 first children followed up from birth and older than 15 months of age, 101 (18.3%) acquired infection and seroconverted to HIV-1. Another 31 (5.6%) asymptomatic seronegative children showed the presence of viral markers, for an apparent mother-to-offspring transmission rate of 23.9%. Overlapping results were seen in 22 second-born children followed up from birth. Of 59 sibships with definite infection status, when the first child was infected, 14 (40%) of 35 second children were infected, whereas when the first child was not infected, only 2 of 24 (8.3%) second children were infected. Discordance in HIV-1 transmission was found in 1 of 18 pairs of twins. Univariate and multivariate analyses of possible risk factors for HIV-1 transmission performed on the entire population of children and in the cohort of those followed up from birth were basically in agreement in indicating that the development of symptoms in the mother before delivery and breast-feeding (indeed adopted in only 22 infants in whom HIV-1 infection was identified at birth) were significantly and independently associated with a higher transmission rate. In addition, girls were more frequently infected than boys.(ABSTRACT TRUNCATED AT 250 WORDS)
This study was designed to evaluate the therapeutic efficacy and toxicity of recombinant interferon alpha-2a (rIFN alfa-2a) given as initial systemic therapy in untreated mycosis fungoides and/or Sezary's syndrome patients, at a slowly escalating schedule up to the maximal tolerated dose. At the same time this schedule was administered in patients who had relapsed or were refractory to previous treatment; 28 newly diagnosed and 15 previously treated patients entered the study. IFN was given daily with dose escalation from 3 to 18 MU. The last follow-up in June 1990 indicates that 90% of previously untreated patients who obtained a complete remission remain in continuous complete remission after 18 to 40 months and that 75% of previously untreated patients who obtained partial remission remain in partial remission after 20-44 months. The event-free survival projected, calculated using the Kaplan and Meier product limit technique, was 21% of all patients at 54.7 months (40% in the previously untreated groups and 14% in the previously treated group: P = 0.12). In conclusion, interferon is very effective as a single agent in cutaneous T-cell lymphomas.
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23 newly diagnosed patients affected by cutaneous T-cell lymphoma were treated with sub-cutaneous interferon alpha-2a to evaluate the therapeutic efficacy and the toxicity of this agent. IFN was administered daily with dose escalation from 3 to 18 million units for 12 weeks; thereafter, patients induced into complete (CR) or partial (PR) remission were given IFN at maximal tolerated dose 3 times weekly for 6 or 9 months. The objective tumor response was observed in 17 patients (74%): 8 (35%) were CR and 9 (39%) were PR. A 74-yr-old patient died because of neutropenia and sepsis at the end of induction phase, while receiving IFN at dose of 18 million units. Disease stage is the initial feature predictive of response to IFN therapy. The dose schedule of this study was well tolerated: only 3 patients developed liver toxicity, while leukopenia was evident in 6 patients. Only 2 CR patients have relapsed, 18 and 24 months from response; the remaining 6 CR patients are in continuous complete remission with a median follow-up of 41.8 months. 6 PR patients have progressed from 8 to 17 months after response, and in the 3 PR patients not yet progressed the response duration ranges from 20 to 24 months. In conclusion, interferon alpha-2a is a very effective agent in therapy of untreated cutaneous T-cell lymphoma with an overall response rate of 74%.
Early Kaposi's sarcoma might be simulated by many different conditions, especially when the vascular component is prominent. the criteria suggested to differentiate early Kaposi's simulators are discussed. We found that these criteria are high in sensibility but low in specificity, therefore, we suggest using these criteria only when they are found in clusters.
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Forty children born to mothers seropositive for the human immunodeficiency virus type 1 (HIV-1) followed-up to 15 months after birth were studied by means of serum antibody patterns to individual viral polypeptides, by the presence of detectable levels of viral core antigen (p24) and virus in serum and peripheral blood lymphocytes, and by total lymphocyte counts and T4/T8 lymphocyte ratios. The results obtained indicate that a persistent antigenemia is significantly associated with positive virus isolation from peripheral blood lymphocytes and with changes in the intensity of antibody reaction to core (p24, p17) and pol (p31) antigens. Six children (15%) presented unequivocal signs of HIV-1 infection and five also had signs of immune system involvement.
A fetus with an extra idic(X)(q27) was ascertained during prenatal diagnosis. The derived X and one normal X chromosome were late replicating. Due to lack of previous experience, genetic counselling presented obvious difficulties and the fetal phenotype could be only tentatively predicted.