A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by clinical and genetic heterogeneity. To date, three loci for autosomal recessive HSP have been mapped on chromosomes 8p, 16q, and 15q. After exclusion of linkage at these loci, we performed a genomewide search in a consanguineous Italian family with autosomal recessive HSP complicated by mild mental retardation and distal motor neuropathy. Using homozygosity mapping, we obtained positive LOD scores for markers on chromosome region 3q27-q28, with a maximum multipoint LOD score of 3.9 for marker D3S1601. Haplotype analysis allowed us to identify a homozygous region (4.5 cM), flanked by markers D3S1580 and D3S3669, that cosegregates with the disease. These data strongly support the presence, on chromosome 3q27-28, of a new locus for complicated recessive spastic paraplegia, which we have named "SPG14."

The video-recorded Stroop Color-Word Test as a new model of experimentally-induced anxiety.

1. The use of the Stroop Color-Word Test as a model of experimentally induced anxiety was evaluated. 2. First, the authors examined the influence of trait anxiety and the type of instructions on the anxiety state level. Subjects with high trait anxiety (above 50 on State-Trait Anxiety Scale--STAI) showed a significant increase in anxiety state only with limited time (2 minutes) and error signal (with a ringing bell) procedures. This increase was blocked by diazepam (DZP) 5.0 mg p.o. both on pre- and post-test measures, but it was not changed by placebo administration. 3. The public performance simulation (with a video-camera) was effective to raise the anxiety state on normal volunteers with mean trait anxiety (between 30 and 50 on STAI). This raise was prevented with diazepam 5.0 mg p.o. but it was not prevented with placebo administration. 4. As a whole, these data suggest that the Video-recorded Stroop Color-Word Test is an effective anxiety provoking test, able to detect the effect of standard anxiolytic drug and stressed the importance of trait anxiety level and the instructions on tests that induced anxiety experimentally.

[Influence of knowledge relative to cancer on prevention behavior in the population of Bas-Rhin]. / Influence des connaissances relatives au cancer sur les comportements de prévention dans la population du Bas-Rhin.

The tendency today is to make the population more aware of health in order to encourage their use of prevention activities. The aim of our telephone survey which was performed on a representative sample of the population (1,010) in the Bas-Rhin department in France, was to study the relationship between the level of knowledge of cancer and the use of screening techniques to prevent it. Eighty-two percent of the males and 78% of the females surveyed, show a profound understanding of cancer in general, the associated risk factors and its prevention. The level of awareness of males did not influence a specific behaviour (p = 0.68) towards cancer prevention. It was shown that in smokers, the more they smoke, the more they underestimate the chances of cure from all categories of cancer (p = 0.01). They both overestimate the number of cigarettes needed daily before smoking becomes toxic (p < 0.01) and are less active physically than nonsmokers (p < 0.007). Heavy smokers live in larger communities (p < 0.02) and smokers are younger than non-smokers (p < 0.0001). In the female population, the level of awareness did indeed influence their behaviour towards cancer prevention (p < 0.04). The level of knowledge was higher in both those who consciously attend cancer screening clinics (cervical Papanicolaou smears and faecal tests) and those who are opposed to faecal tests. Younger females are significantly less aware than those who are older (p = 0.0001) and more than two-thirds of these would not consider a cervical Papanicolaou smear as a preventative diagnostic tool. Females who conscientiously attend cancer screening clinics and who are very much aware of cancer, are generally older in age (p < 0.05). The occurrence of mammography as a preventative measure is both high and dependent on age. In conclusion, the level of knowledge of cancer cannot explain alone human behaviour towards the prevention of this disease. Other determinants responsible for influencing human behaviour towards cancer prevention will be better understood once the social sciences, epidemiology and anthropology units work together and combine resources to achieve a common goal.

[Determinants for choice of medical management in the Bas-Rhin]. / Les déterminants du choix de la prise en charge médicale dans le Bas-Rhin.

UNLABELLED: It has already been established that the social origin and the demographic factors have an influence, among other things, on medical practice. What about it in the Bas-Rhin? Our survey's objective consists of emphasising on what motivates the choice of the type of medicine. METHOD: Phone survey on a representative sample of 1010 persons aged between 25 and over 64, residing in the Bas-Rhin. RESULTS: Participation has been of 66.3%. Among participants, there are 49.1% of men and 50.9% of women. 9 among 10 participants state that they have a family doctor. More women claim they are more likely to see a homeopathic doctor and/or a professional of alternative medicine. 8 among 10 persons have their blood pressure checked. 50.9% of participants have a blood analysis made in order to determine their cholesterol level. Building on these medical practices, several groups have been created. 54.1% of participants belong to the same group, having in common the facts of having a family doctor, having their blood pressure checked, and never seeing a professional of alternative medicine. The female participants are properly followed up on the gynecological point of view. Only 29 among 500 women have never had a cervical smear done. The carrying out of a mammography raises with age. When fearing a potential cancer, the first step taken by 56.2% of participants consists of seeing a generalist doctor, whereas 65.9% would prefer going to the hospital to perform further tests. As far as treatment is concerned, 76.8% of them would rather go to a specialised department, even if it is located far from their home. Special attention is to be paid to the fidelity of the population of the Bas-Rhin toward their family doctor. He represents the main link of information between the patient and the prevention policies that have been implemented over the last years.

[Imaging of the thymus gland in myasthenia gravis (computerized tomography and magnetic resonance)]. / L'imaging del timo nella miastenia grave (tomografia computerizzata e risonanza magnetica).

Since thymectomy is nearly always indicated as a possible treatment of myasthenia gravis, we examined with Magnetic Resonance (MRI) and Computed Tomography (CT) 22 patients (21-62 years old) to identify the best methodological approach. MR images were obtained with a 1.5 T superconducting unit with slice thickness ranging from 6 to 8 mm and an interslice gap of 0.6 and 0.8 mm. Spin-echo images were acquired with repetition time (TR) < 700 ms and echo time (TE) of 20 ms and T2-weighted images with TR > 1800 ms and TE of 80 ms. The sections were obtained, with cardiac gating, on transverse and sagittal planes. CT was performed with contiguous 5-mm slice thickness, after intravenous bolus injection of contrast medium. All the patients underwent surgery of anterior mediastinum and histologic diagnosis was made. Both CT and MRI correctly identified the patterns of normal thymus or hyperplasia not associated with gland enlargement, the only two cases of hyperplasia with thymic enlargement and clearly demonstrated thymomas. MRI appears to be more accurate in the evaluation of the relationship between thymus and contiguous structures. If pericardial infiltration is suspected, sagittal MR scans yield accurate information on tumor spread. We recommend MRI of anterior mediastinum to rule out the presence of a thymoma and the possible involvement of contiguous structures.

[Description of two cases of retrobrachiocephalic thymus gland]. / Descrizioni di due casi di timo retrobrachiocefalico.

We report two rare cases of thymus gland found behind the left brachiocephalic vein, in young women undergoing thymectomy for myasthenia gravis. Our observations are included among the thymic anatomical variants. After a review of the literature on the subject, we discuss both the diagnostic role of new radiological techniques (CT, NRM) and the choice of surgical approach to these variants.