Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease.
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Biomedical subjects
Publications and source records attributed to P Ibáñez.
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The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.
BACKGROUND: Modernization of medical teaching includes the use of new teaching methodologies and among these, computer assisted tutorials. Previous experience has shown that this type of methodology is associated with better student performances. AIM: To assess the cognitive performance of fourth year medical students using different teaching methodologies. MATERIAL AND METHODS: During the hypertension course, medical students were allowed to choose to receive a printed booklet (group A), to receive the booklet and attend lectures (group B), to receive the booklet and use a multimedial educational program (group C) and to use all three methodologies (group D). Cognitive performance was evaluated with a multiple choice test scored from 0 to 100. RESULTS: The mean scores obtained by students were 84.5 in group A, 82.4 in group B, 88.9 in group C and 84.4 in group D. This overall score of 83.6 in hypertension was significantly better than the mean score of 72.5 obtained in the cardiology test. CONCLUSIONS: Allowing students to choose the most suitable method to learn according to their personal preferences, results in a better cognitive performance.
We report a 66 years old male, with an ophtalmologic history of long sightedness, admitted to the hospital due to paroxysmal atrial fibrillation crises in the context of a coronary heart disease. He was treated with i.v. amiodarone, receiving a total dose of 6 g in 72 hours. After the third day of treatment, the patient noticed a correction of his long sightedness and 24 h later, he complained of hlurred vision and orbital frontal headache. Visual field examination revealed a concentric retraction of visual field and a centrocecal scotoma in both eyes. Amiodarone was withdrawn and dexametasone treatment was begun. Three days after amiodarone discontinuation, sight improved and visual field returned to normal. Although retrobulbar neuritis has been associated to various drugs, amiodarone has not been considered as a possible agent.
Neck located hydatid cysts are of rare occurrence. We report two patients with such condition. A 66 years old male with a slowly progressive painless 4 cm nodule located in the right thyroid. It did not concentrate 131I and a fine needle aspiration cytology was informed as an acute thyroiditis. A 5 years old boy presented with a 5 cm painless right submaxillary cyst. Ultrasound examination showed that it was unilocular, and fine needle aspiration biopsy disclosed unspecific findings. In both cases surgical findings and the pathological study showed hydatid cysts. Both patients had normal chest x ray and abdominal ultrasound examinations. They had an uneventful postoperative evolution. Echinococcosis must be considered in the differential diagnosis of cervical cysts in endemic area.
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BACKGROUND: Continuing medical education is essential to cope with the accelerated evolution of medical knowledge. AIM: To assess the feasibility of a distance medical education program prepared in a written format. SUBJECTS AND METHODS: Ninety physicians, aged 25 to 29 years old and with 1 to 4 years of medical practice, working mostly in rural locations, participated in the program. The sending of 10 issues with medical topics was programmed. The topics were selected according to the results of an survey done among physicians of the region. Each issue contained an evaluation that had to be returned to the authors. RESULTS: Eighty two physicians completed the program and 59 returned the evaluations. The mean obtained score in the cognitive evaluation was 80 +/- 6 points (range 68 to 97 points) of a scale from 0 to 100. The qualitative survey revealed a high degree of approval of the issue's format, contents and evaluation system. The favorable effect on patient's management and on the detection and control of chronic diseases was emphasized. CONCLUSIONS: This distance medical education program had a good receipt and compliance among physicians and contributed to continuing medical training.
Caffeine elimination was studied in 73 patients admitted to an intensive care unit, 33 of whom had liver disease. Mean plasma clearance of caffeine in patients with no liver disease (1.30 +/- 0.79 ml/kg/min) was significantly higher than in patients with liver disease (0.39 +/- 0.23 ml/kg/min). Mean half-life of caffeine in patients with liver disease (23.96 +/- 12.19 h) was significantly higher than in patients with no liver disease (7.25 +/- 3.04 h). No significant differences in distribution volumes were found. Receptor-operator curves (ROC) for plasma clearance and the half-life of elimination of caffeine showed a high diagnostic value. Therefore, the parameters for caffeine biotransformation, i.e. Cl and t1/2, are useful for assessing liver function in the population studied.
The possible hypertensive effect of oral contraceptives is a controversial issue. We studied 371 women, admitted to the family planning program of a state funded outpatient clinic, that were followed during 12 months. These women were divided in four groups: Group 1 was constituted by 98 women that used intrauterine devices. Group 2 by 98 women taking 30 micrograms of estrogen and 300 micrograms of progestogen. Group 3 by 83 women taking 35 micrograms of estrogen and 500 micrograms of progestogen and Group 4 by 92 puerperal women taking 30 micrograms of levonorgestrel, that after six months started to use an intrauterine device (n = 35) or the contraceptives of group 2 (n = 38) or group 3 (n = 19). Age, initial blood pressure and weight were similar in the four groups. There was no significant change in blood pressure after 6 or 12 months of follow up in any group. It is concluded that contraceptives containing estrogen concentrations up to 35 micrograms and progestogen concentrations between 300 and 500 micrograms do not induced changes in blood pressure.
The aim of this work was to assess an independent study program on hypertension using a computer multimedia program developed by the authors. Twenty-four randomly chosen students participated in the program and 76 students that continued to attend to classical lectures were used as controls. At the end of the program, a cognitive test with 40 multiple choice questions and an opinion questionnaire were applied. The experimental group had higher grades in the test than controls (71.4 and 64.6% respectively p < 0.001) and a highly favourable opinion of the program. It is concluded that computer based teaching programs are a useful and feasible alternative to lectures.
The aim of this work was to study the feasibility of applying problem-based learning methodologies to first year medical students. During 1992, they participated in tutorial groups composed by ten students, that undertook the study of three clinical problems from a biological, psychological and social perspective. Cognitive tests that included multiple choice and developmental questions were used for assessment. An anonymous enquiry about the students opinion towards the educational experience was also applied. Students achieved 76% of the predetermined goals for each problem. Scoring was better for developmental than multiple choice questions. The experience had a great acceptance among students, that considered as positive features the learning motivation, the stimulus for active participation, the achievement of personal expectancies, the integration of knowledge areas and the encouragement of team work and information seeking.
In medical education, programs that promote independent study are favored over traditional teaching methodologies. Aiming to assess the long term results of this pedagogic approach, fifth year medical students were assigned to receive self instruction modules or expositive lectures on electrocardiography. The knowledge and opinions of these two groups were evaluated two years later. Knowledge assessment was significantly better among students receiving self instruction modules (75.3 +/- 9.3 vs 65.4 +/- 12.9 points, in a scale ranging from 1 to 100 (p < 0.001). The self instruction method and traditional lectures were qualified as very useful by 86.8 and 38.9% of students respectively. It is concluded that self instruction methods have good long term results, when applied to medical students.
The aim of this work was to study the prevalence of hypertension in rural populations of the VIII region of Chile. Six thousand twenty four non institutionalized subjects. 14 years old or older, coming from eight randomly chosen rural communities were studied. Blood pressure was measured by trained personnel in two occasions within 30 minutes; in those classified as hypertensive, a third measurement was performed within 24 hours, eliminating alcohol intake and medications. Results show prevalence rates in the first, second and third measurement of 38.5, 30.8 and 22.8% respectively. The elimination of alcohol intake and medications decreased the prevalence in 3.9%. All the chosen communities has similar rates (19.8 to 21.2%) except Arauco, that had a significantly higher frequency of 31.9%. Zones of extreme ruralness had higher rates than small towns (23.8 vs 21.7%). There was a secular increase in the prevalence of hypertension from 4.9 in the 15 to 24 years old group to 57.8% among people 75 years old or older. Forty three percent of hypertensives were aware of such condition, 26.1% were receiving treatment and in 8.2% it was successful; all these figures were slightly better among women.
The effects of juvenile hormone (JH) on the control of vitellogenin appearance in the haemolymph of Spilostethus pandurus newly emerged females have been studied as well as their intake by developing oocytes. SDS-PAGE electrophoresis has been used as an analytical method for protein studies. JH induced early detection of vitellogenins in the haemolymph of treated insects and their accelerated incorporation by undeveloped ovaries. The results suggest that JH plays an essential role as a gonadotrophic agent, just as it has been described for other insect species.
The pharmacokinetics of intravenous caffeine used to measure liver function were evaluated in 20 critically ill patients. Each patient received a single dose of 3.0 mg/kg of caffeine benzoate as a 30-min i.v. infusion. Caffeine serum concentrations were analysed by an enzyme-multiplied immunoassay technique (EMIT). Caffeine pharmacokinetics fitted an open one-compartment model. The mean value for the half-life (t1/2) was 9.46 +/- 4.32 h, the volume of distribution was 0.55 +/- 0.13 l/kg, and the plasma clearance (Cl) was 0.85 +/- 0.44 ml/min/kg. The pharmacokinetics parameters of caffeine in critically ill patients compared with normal volunteers were characterized by a reduction in plasma clearance and prolongation in plasma half-life, whereas the volume of distribution remained unchanged.
The effects of juvenile hormone and precocoene II on the metabolic rate of Blattela germanica L. (Blattaria, Blattellidae), Spilostethus pandurus Scop. (Heteroptera: Lygaeidae) and Oncopeltus fasciatus Dallas (Heteroptera: Lygaeidae) 5th instar nymphs and adults have been investigated. Direct volumetric method was used to determine the oxygen consumption rate. JH produced a stage and/or sex dependent increase in the metabolic rate according to the species considered. On the other hand, PII decreased oxygen consumption in Blattella germanica and S. pandurus fifth instar and males, whereas O. fasciatus metabolic rate was not affected by the treatment.
A study was made of the number of Langerhan's cells (LCs) per mm2 of section which express the antigens T6 and/or HLA-DR in seriated gingival sections of diphenylhydantoine-induced hyperplasia (HG) and clinically normal gingivae (NG). NG showed histological correlation with its macroscopic appearance. In HG the classical histopathological findings were verified, as well as the epithelial maturation irregularities, conductive to the development of epithelial gaps. In the immunostained samples, LCs appear amply distributed in the epithelium in greater numbers than in NG and more branched except in the immature areas, where they mostly express HLA-DR. In HG keratinocytes, HLA-DR+ are observed in the basal layer, except in developing epithelial gap zones. The Wilcoxon test for the NG-T6/NG-DR and HG-T6/HG-DR was not significant; but the Mann Whitney test for NG-T6/HG-T6 and NG-DR/HG-DR was significant to p less than 0.05. It is understood that the increase in LC numbers in HG is a manifestation of their active participation in local immune reactions. The presence of DR+/T6- LCs in the less keratinized areas seems to indicate the relationship of LCs with epithelial proliferation and/or differentiation.
Plasma flecainide (FLC) levels versus time were measured in a group of 10 acute myocardial infarction (AMI) patients at our Intensive Care Unit. These patients were treated with single doses of 150 mg FLC as a 30-min intravenous infusion. Mean FLC plasma concentration values at 0, 1, 2, 4, and 8 h following administration were 562 +/- 271, 342 +/- 129, 270 +/- 90m, 240 +/- 80 and 210 +/- 60 ng/ml, respectively. Flecainide pharmacokinetics fitted an open two-compartment model, with a rapid distribution phase and a slow elimination phase. Mean values for the terminal plasma half-life (t1/2 beta) was 22.0 +/- 9.7 h and the volume of distribution (V beta) was 7.99 +/- 3.02 1/kg. FLC is different to other i.v. antiarrhythmics in having a prolonged plasma half-life which is a decided advantage. In contrast to lidocaine, FLC has a pharmacokinetic profile that enables it to be used for treating ventricular arrhythmia without constant-rate i.v. infusion and without the need for complicated loading dosages in order to avoid a 'pharmacokinetic dip' over the first hour of treatment.