Sebastian platelet syndrome. Two new cases in a Spanish family.
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Biomedical subjects
Publications and source records attributed to A Domingo.
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In the early 80's opioid addiction was a low prevalence problem in Spain, grew enormously during that decade and became the most important risk factor for AIDS in recent years. The limitations of assessing the prevalence of illegal drug use by means of standard epidemiological methods lead, worldwide, to the use of indirect indicators. A Register of Toxicological Emergencies, developed for research purposes and containing data from 1979 to 1989 at the Hospital del Mar (Barcelona) is described. Results for opioid-related emergencies are presented, showing an epidemic increase in the number of such emergencies after 1981. The total number of opioid-related emergencies was 18,042 with a mean of 2.23 opioid-related emergency admissions per client throughout the whole period, implying that some 8000 persons were seen. In episodes from non-arrestees, mean age increased slightly over time, the male/female ratio being 2.5; withdrawal was the more frequent reason for attendance (53%), overdose accounting for 9% of admissions, and other medical conditions for 33%. Non-arrested women were more likely to attend for other medical conditions and overdoses than men. The importance of this kind of register as well as its limitations for assessing the trend of opioid use prevalence is discussed.
Mycosis fungoides is a T cell lymphoma characterized by the initial skin involvement. Organ infiltration generally occurs many years after the cutaneous presentation. The organ disease is accompanied of peripheral blood involvement (more than 20% lymphocytes have atypical convolute nucleus and there are palpable adenopathies. Pericardic involvement is a rare complication as the initial manifestation of the visceral disease, in patients with mycosis fungoides of long evolution. We present a patient suffering mycosis fungoide who presented a pericardic tamponade. The visceral disease in our patient was not accompanied by blood anomalies or palpable adenopathies.
With a simple modification, any disposable syringe can become a reliable and easy to use exponential gradient maker. The modification consists of two notches, made with a razor blade, in the borders of the rubber sealing tip of the plunger. A clamp in the tube connected to the syringe allows control over solution flow. With the clamp prohibiting drainage, the body of the syringe is filled with the desired volume of starting solution I. A magnetic stir bar, small enough to spin inside the syringe is included. The notched plunger is introduced until no air space remains. This forms the fixed volume, closed mixing chamber, while the rest of the volume of the syringe forms the open chamber. The two chambers are connected through the notches in the plunger. The ending solution II is poured after the introduction of the plunger. Opening the clamp allows solution I in the closed chamber to flow out, and the solution II in the open chamber flows through the notches and mixes with solution I. This exponential gradient maker can be reused many times, but the low cost of the components makes it potentially disposable. This feature is especially useful when using toxic chemicals, or when pouring polyacrylamide gradient gels, since the apparatus may be disposed of after contamination or eventual polymerization.
We report a modification of a method for measuring the C3 nephritic factor, using the peroxidase activity of the heme group. This modification increases the sensitivity of the method, approximately seven-fold when NEF activities are measured in U/mL. It is less time-consuming and it allows the simultaneous testing of a larger number of samples, simplifying the screening of sera and ensuring an easy and simple test for the detection of NEF in purification processes as well as in in vitro production. The method could also be useful in other hemolytic assays.
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Two previously unreported patients with cutaneous T cell lymphoma associated with systemic low-grade B cell proliferations are presented. The first patient had Waldenström's macroglobulinemia and the second had simultaneous chronic lymphocytic leukemia. The use of immunosuppressive drugs or a genetic predisposition may have contributed to the second malignancy. However, the possibility that malignant helper/inducer T lymphocytes were a factor in the promotion of the proliferation of B cells cannot be excluded.
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As described in this article, visualization and/or photography under uv light of 4-chloro-1-naphthol-developed, peroxidase-marked immunoblots allows an increase in sensitivity of more than 100 times over the apparent staining results observable under normal visible white light. This increase in sensitivity can be obtained with the minimal additional requirement of an uv lamp, with the actual chloronaphthol staining procedure remaining unaltered and thereby allowing the monitoring of specific reactions with much smaller quantities of antigen or antibodies. Substantial shortening of the procedure is another advantage, making it possible to complete in 20 min or even less a procedure usually requiring 3 to 6 h. The phenomenon depends on the uv absorption and the fluorescence quenching properties of the products of the peroxidase reaction. The absorption spectra of the membranes with or without peroxidase products indicate that an intermediate in the peroxidase reaction is responsible for the absorption under uv light. This intermediate accumulates under conditions where the final product absorbing in the visible light has not begun to be produced, thus explaining the large increase in sensitivity. The behaviors of three types of membranes, nitrocellulose, nylon, and Immobilon (PVDF), are compared. Due to its lower uv absorption, PVDF gives by far the best results, followed by nitrocellulose.
The effects of age and cigarette smoking on lipids and apolipoproteins were studied in men, 20-65 years old, randomly selected from a military population in the Madrid area, Spain. Subjects were classified as non-smokers, medium smokers (10-20 cigarettes/day) and heavy smokers (more than 20 cigarettes/day). Smoking prevalence was 58%. Serum apolipoprotein A-I and HDL-cholesterol (HDL-C) were not age-dependent, while total cholesterol (TC), triglycerides (TG), LDL-cholesterol (LDL-C) and the TC/HDL-C ratio increased with age. None of the variables studied was age-dependent over 30 years. The effects of smoking on TC, TG, LDL-C, HDL-C, TC/HDL-C ratio, apolipoprotein A-I, apolipoprotein B, and apo A-I/apo B ratio in the 20-29-year-old group appeared to be prominent in heavy smokers (P values less than 0.001, less than 0.05, less than 0.01, less than 0.05, less than 0.001, less than 0.05, less than 0.01 and less than 0.05, respectively) but not in medium smokers, in which only TG increased significantly (P less than 0.001). Few differences were noted between non-smokers and smokers over 30 although the TC/HDL-C ratio did increase in heavy smokers (P less than 0.05).
Gravity and radiation are undoubtedly the two major environmental factors altered in space. Gravity is a weak force, which creates a permanent potential field acting on the mass of biological systems and their cellular components, strongly reduced in space flights. Developmental systems, particularly at very early stages, provide the larger cellular compartments known, where the effects of alterations in the size of the gravity vector on living organisms can be more effectively tested. The insects, one of the more highly evolved classes of animals in which early development occurs in a syncytial embryo, are systems particularly well suited to test these effects and the specific developmental mechanisms affected. Furthermore, they share some basic features such as small size, short life cycles, relatively high radio-resistance, etc. and show a diversity of developmental strategies and tempos advantageous in experiments of this type in space. Drosophila melanogaster, the current biological paradigm to study development, with so much genetic and evolutionary background available, is clearly the reference organism for these studies. The current evidence on the effects of the physical parameters altered in space flights on insect development indicate a surprising correlation between effects seen on the fast developing and relatively small Drosophila embryo and the more slowly developing and large Carausius morosus system. In relation to the issue of the importance of developmental and environmental constraints in biological evolution, still the missing link in current evolutionary thinking, insects and space facilities for long-term experiments could provide useful experimental settings where to critically assess how development and evolution may be interconnected. Finally, it has to be pointed out that since there are experimental data indicating a possible synergism between microgravity and space radiation, possible effects of space radiation should be taken into account in the planning and evaluation of experiments designed to test the potential role of microgravity on biological developmental and evolution.
A quantitative model of the effect of the bithorax complex on segmentation is presented which could explain the known data of the spatiotemporal regulation of key gene complex during early Drosophila development, in relation to their effects on some of the segmentation landmarks. The model tries to put together the two different genetic levels, the genotypic and the phenotypic. At the genotypic level, a minimal cross-regulatory network of the different genes involved, Antp, Ubx, abd-A and Abd-B which explains the reported levels of expressions of these genes. At the phenotypic level, the pattern of the ventral denticle belts across the larva which are characteristics of the different segments have been compared by calculating a value of the degree of similarity in the case of the wild-type and several mutant combinations. Finally the two parts of the model are combined, showing that a satisfactory agreement between the two can be achieved. Therefore, this work is a first attempt to develop a method which will provide an explanatory solution of the old question in morphogenesis of how the phenotype is directed by the genotype of a cell or organism.
During a 5-year period 203 previously untreated patients with acute myeloblastic leukemia entered an intensive induction chemotherapy regimen with daunorubicin, cytosine arabinoside, 6-thioguanine, vincristine and prednisone (DATOP). The complete remission rate was 64%. Patients in complete remission were randomly assigned to 3 courses of early consolidation with DATOP at lower dosage followed by maintenance chemotherapy, or to the same maintenance regimen in the absence of any consolidation courses. No significant differences were found between these options concerning disease-free survival (median 7.0 vs. 9.8 months; p greater than 0.10) or survival (median 15.8 vs. 19.4 months; p greater than 0.10). This study, in addition to the few previously reported randomized trials, suggests that early low-dose consolidation adds no benefit to maintenance chemotherapy in acute myeloblastic leukemia once complete remission has been achieved.
A systematic examination of the properties of the clot assay, a highly sensitive and simple method to detect DNase activities, is presented. It is shown that it is both quantitative and specific for monitoring the double-strand cleavage of DNA produced by specific and nonspecific endonucleases. Its simplicity and ease of quantification, which exceeds that of other methods of similar sensitivity, indicates that the clot assay can be advantageous in monitoring the activity of both types of endonucleases, especially if carried out in parallel with other more informative assays on the mechanism of action of the enzymes. As an example of its use, it is shown that pancreatic DNase I is capable, in the absence of external metal addition, of a limited attack on DNA containing bound divalent cations.
Allogenic bone marrow transplantation (BMT) was performed in 8 patients with B chronic lymphocytic leukemia (CLL): 6 males and 2 females with a median age of 41 years (37 to 46). Seven patients were resistant to previous therapy and were grafted in the evolutive phase. Only 1 patient was grafted without any previous treatment. At the time of BMT 5 patients were classified according to the Rai classification in stage IV, 1 in stage III and 2 in stage 1. The delay between diagnosis and BMT was 47 months (5 to 68). Graft versus host disease (GVHD) prophylaxis was methotrexate (1 patient), cyclosporine (2 patients), methotrexate + cyclosporine (3 patients), cyclosporine + physical removal of T cells (2 patients). The conditioning regimen was standard for 5 patients, reinforced for 3 patients with Chlorambucil (1 patient) and etoposide (2 patients). A successful engraftment was obtained in all cases. The lymphocytosis decreased slowly and disappeared from day 0 to day 28. All patients developed an acute GVHD 5 of which resolved. Three patients died: 2 of acute GVHD and 1 of intracerebral hemorrhage. Five patients are alive in persistent complete remission without clinical symptoms and with normal peripheral blood and normal bone marrow. The median follow-up is 27 months (13-53). This small series suggests that allogeneic BMT should be investigated in selected patients as possible curative treatment of CLL.
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