Biomedical subjects
Publications and source records attributed to J Vidal.
After submitting a typical case of Anderson-Fabry disease in a 38 years old male, we discuss the eminent aspects of this metabolic disorder and, above all, the clinical, biochemical and ultrastructural problems of diagnosis in the heterozygotic relatives.
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The indications for arthrodesis of the shoulder are controversial and limited and fusion is difficult to achieve, as is shown by the number of methods described in the literature. Since 1970, the authors have used combined internal and external fixation for arthrodesis of the shoulder. From a biomechanical study of arthrodesed shoulders, an attempt has been made to define the best combination of fixation. Three progressively more complex methods combining intra-articular fixation with a Hoffmann external fixator in compression have been tested. The ideal method combines transverse double scapulo-humeral screws with a vertical acromio-humeral screw. The addition of a bony subacromial strut controls the shearing effects arising from the application of the fixator in compression and also provides an upper site of fusion. In 14 arthrodeses using combined internal and external fixation analysed with a two to sixteen year follow-up, acromio-humeral fixation has been used in 11 cases with 10 primary successes and in 3 cases triple screw fixation has given very rapid fusion without the need for spica immobilisation.
The seroepidemiological study carried out on a random sample of pregnant females aged between 15 and 45 in Catalonia (Spain) showed that the prevalence of antibodies found in the survey (97.5 +/- 2) varies from that shown by studies performed in continental areas of Europe and North America in the pre-vaccination era (80-90%) and is similar to that currently found in certain continental areas of Asia and Africa (about 95%) where the prevalence of the virus seems to be very high, and in certain industrialized countries which have implemented effective vaccination programmes (95-97%). Although 28.8% of the females surveyed stated that they had been vaccinated against rubella, it has not been possible to find any statistically significant differences as regards the prevalence of antibodies between vaccinated and nonvaccinated females. This suggests that the high prevalence of anti-rubella antibodies shown by the survey is due not so much to the existence of effective vaccination programmes as to the fact that the wild virus is extremely widespread among the Catalonian population, similar to certain continental areas of Asia and Africa.
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Applications of the ELISA-spot technique to particulate antigens (sheep erythrocytes and E. coli) are reported; sheep erythrocytes were used to ensure a rigorous comparison of the spot assay and the haemolytic plaque assay. The spot technique was also applied to soluble antigens (dextran and trinitrophenyl-lipopolysaccharide) to assess the putative occurrence of non-haemolytic antibodies. In most instances, the spot assay disclosed higher numbers of antibody-secreting cells than the plaque assay. An examination of the kinetics of spot formation demonstrated that spot development was most rapid during the first and second hours of enzyme activity and slowed thereafter, although the numbers of spots at 16 h were higher than those at 2 h. To shorten the assay time a redox reaction (which yields an insoluble formazan) was coupled to the enzymatic reaction. In duplicate assays, this improved technique gave larger numbers of spots in a shorter time, than the conventional assay.
Day and night forms of phosphoenolpyruvate carboxylase (EC 4.1.1.31) (PEPC) were extracted from leaves of the CAM plants Kalanchoe daigremontiana, K. tubiflora and K. blossfeldiana previously fed with [32P] labelled phosphate solution. A one-step immunochemical purification followed by SDS polyacrylamide gel electrophoresis and autoradiography showed that, in all species, the night form of the enzyme was phosphorylated and not the day form. Limited acid hydrolysis of the night form and two-dimensional separation identified predominantly labelled phosphoserine and phosphothreonine. In vitro addition of exogenous acid phosphatase (EC 3.1.3.2) to desalted night form-containing extracts resulted within 30 min in a shift in PEPC enzymic properties similar to the in vivo changes from night to day form. It is suggested that phosphorylation-dephosphorylation of the enzyme could be the primary in vivo process which might explain the observed rhythmicity of enzymic properties.
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Ferredoxin-dependent glutamate synthase (EC 1.4.7.1), glutamate oxoglutarate aminotransferase (glutamate synthase) (GOGAT) messenger RNA was extracted from maize (Zea mays L.) leaves and partially purified through oligo(dT)-cellulose chromatography and ultracentrifugation in a sucrose gradient. mRNA were translated in vitro using a reticulocyte system. The glutamate synthase subunit was characterized by immunoprecipitation with antibodies raised against the rice (Oryza sativa L.) ferredoxin-glutamate synthase. The in vitro synthesized protein and the 145 kilodaltons genuine maize leaf subunit of GOGAT were found to comigrate in sodium dodecyl sulfate-polyacrylamide gel electrophoresis experiments.
We present the case of an 11-month-old baby with a burn that healed normally over a month, but subsequently developed successive crops of blisters over the scar. There were no changes in his general condition. Clinical, immunological, histological and ultrastructural studies provided a diagnosis of mechanical dermatitis produced by microtrauma. Electron microscopy studies revealed the sub-epidermal nature of the blisters and the presence of underlying fibrin deposits.
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Two cases affected by the nevoid basal cell carcinoma syndrome are reported herein with multiple basal cell carcinomas on exposed areas, with the previous appearance of pigmented macules on which a morphological transformation was shown with the presence of erythematous papules and plaques in a ring-like, formation made up of epitheliomatous pearls, giving the appearance of lesional polymorphism. The clinical pathological diagnosis of epithelioma basocellular is confirmed. In both patients, numerous pits on the hands and feet are shown without noticeable subjective symptoms; one of the biopsies reveals a carcinoma of basal cells in the epidermis underlying the pit. A detailed study is carried out on both families with the existence of different osseous anomalies, without finding cutaneous stigmas. The treatments carried out are checked bringing in our experience with the locally applied 5-FU. It is clearly obvious that UV light is a key factor in these two cases.
Detachment of a total hip prosthesis, whether or not it is cemented, presents as an abnormal mobility between the implant and the bone. Mechanical pain, which may be continuous from the time of the operation or which may appear after a variable pain free period, is the usual presenting symptom. Clinical examination may induce the pain by forced rotation, by a shaking maneuver or by traction-impaction of the lower limb. The most suggestive signs of detachment of the prosthesis are the inability to extend the limb and the instability of weight-bearing on one foot. At this stage, the findings of radiological and laboratory investigations are able to characterise the type of detachment and its septic or aseptic nature. Two clinical situations can be defined on the basis of this survey: the diagnosis of detachment is obvious due to rupture or fracture of the prosthesis, of the cement or of the bone, by displacement of the prosthetic elements or by the destruction of the bone in contact with the prosthetic elements; the diagnosis may be suspected and can be confirmed by careful comparative analysis with the initial films or by further investigations: dynamic tests, scintigraphy, arthrography under traction and possibly coxonar. There are a number of causes of detachment: poor positioning, incorrect conception or design of the prosthesis, poor bony support and host reaction to the implant.(ABSTRACT TRUNCATED AT 250 WORDS)
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