Association analysis in a Latin American population revealed ethnic differences in rheumatoid arthritis-associated SNPs in Caucasian and Asian populations.

Large genome-wide association studies (GWAS) have increased our knowledge of the genetic risk factors of rheumatoid arthritis (RA). However, little is known about genetic susceptibility in populations with a large admixture of Amerindian ancestry. The aim of the present study was to test the generalizability of previously reported RA loci in a Latin American (LA) population with admixed ancestry. We selected 128 single nucleotide polymorphisms (SNPs) in linkage equilibrium, with high association to RA in multiple populations of non-Amerindian origin. Genotyping of 118 SNPs was performed in 313 RA patients/487 healthy control subjects by mid-density arrays of polymerase chain reaction (PCR). Some of the identified associations were validated in an additional cohort (250 cases/290 controls). One marker, the SNP rs2451258, located upstream of T Cell Activation RhoGTPase Activating Protein (TAGAP) gene, showed significant association with RA (p = 5 × 10-3), whereas 18 markers exhibited suggestive associations (p < 0.05). Haplotype testing showed association of some groups of adjacent SNPs around the signal transducer and activator of transcription 4 (STAT4) gene (p = 9.82 × 10-3 to 2.04 × 10-3) with RA. Our major finding was little replication of previously reported genetic associations with RA. These results suggest that performing GWAS and admixture mapping in LA populations has the potential to reveal novel loci associated with RA. This in turn might help to gain insight into the 'pathogenomics' of this disease and to explore trans-population differences for RA in general.

[Emotions and situations of communication in children and adolescents with frontal cerebral lesions]. / L'analyse des émotions et des situations de communication chez des enfants et des adolescents lésés frontaux.

OBJECTIVE: Following cerebral lesions, especially right and frontal cerebral lesions, patients often have difficulties in social cognition. Emotional skills are often impaired. Adults with cerebral lesions have difficulty identifying facial emotional expressions and attributing emotions in situations of communication. However, few studies have involved children and adolescents with cerebral lesions. Our first goal was to determine whether the performance in emotional tasks of young patients with frontal cerebral lesions is as impaired as that of adults, and the second goal was to study the role of emotional cues in pragmatic aspects of language. METHOD: The study involved 7 children and adolescents with frontal cerebral lesions but no aphasia and 7 control subjects. We used two emotional tasks: one to assess the ability to identify facial emotional expressions, and one to assess the ability to attribute emotions in situations of communication. RESULTS: The control and experimental groups did not differ significantly in identifying and attributing emotions. A further analysis of responses revealed that the patients were more impaired than controls in attributing complex emotions. As well, the patients tended to produce more justifications based on irrelevant elements than the controls. CONCLUSION: Our first data have shown that the children and adolescents with frontal cerebral lesions retain the ability to analyse emotions in situations of communication but have subtle difficulty in analysing emotional cues in social situations.

[Importance of the deficit of crystallization inhibitors in the etiopathogenesis of urolithiasis]. / Importancia del deficit de inhibidores de la cristalización en la etiopatogenia de la urolitiasis.

BACKGROUND: five percent of consultations at the Emergency Room of Catholic University Hospital are due to nephrolithiasis. The causes of this high frequency remain unknown. AIM: to know the main metabolic and anatomic factors involved in the genesis of neprholithiasis. PATIENTS AND METHODS: forty one patients (31 male) were studied presenting with a renal colic were studied as soon as the acute episode subsided and without diet modifications. Fasting blood calcium and creatinine and 24 h urine calcium, uric acid, citrate, magnesium and pH were measured and an intravenous pyelogram was performed. Twenty one subjects without a history of nephrolithiasis were used as controls. RESULTS: Patients with nephrolithiasis did not differ from controls in urinary calcium (159 +/- 67 and 172 +/- 67 mg/24 h respectively), uricosuria (417 +/- 171 and 431 +/- 121 mg/24 h respectively) or urinary magnesium (55 +/- 19 and 62 +/- 21 mg/24 h respectively, whereas urinary citrate was lower (219 +/- 172 vs 319 +/- 179 mg/24 h in controls p < 0.05). All patients had normal renal functions, urinary acidification and intravenous pyelogram. Seven percent of patients with nephrolithiasis had hypercalciuria, 2.4% had hyperuricosuria. 68.3% had a low urinary citrate and 44.4% had low urinary magnesium. CONCLUSIONS: in this sample, there is a strong association of nephrolithiasis with low levels of crystallization inhibitors in special with urinary citrate, a crystallization inhibitor.

The "Besançon smoke-free" programme. Concepts, measures and evaluation.

Three years ago the city of Besançon, France, launched a city-wide, multi-level and multi-disciplinary smoking prevention programme with the ambitious goal of reducing the number of smokers by 50%. This paper describes the philosophy and methodology behind the programme while reporting on its mid-term progress.

[Consumption of legal and illegal drugs by school students from the region of Doubs]. / Etude de la consommation des drogues licites et illicites chez les jeunes scolarisés du département du Doubs.

Two surveys were carried out among high school students from the Doubs region in 1982 and 1985. Their objective was to determine how legal and illegal drugs were used and their importance among the target population. Alcohol was found to be more common among the male population and its consumption remained stable during the 1982-1985 period. The use of tobacco, however, increased dramatically, especially among females attending vocational schools. The surveys also revealed that the age at which smoking was attempted for the first time has lowered, family and school environment playing an important role. Of those students who smoked, 69% had parents and a close friend who smoked, whereas 16% had none in their immediate environment who smoked. It was noted that young girls used more often psycho-active medicines than boys. A noticeable increase in their use became evident especially in vocational schools. Of those students questioned, 43% of junior high school students, 10.3% of vocational school students and 14.8% of senior high school students, stated that they used illegal drugs and that their accessibility permitted a wide use of these products. Whatever the age or sex the following associations were the most significant: drugs-tobacco, drugs-alcohol, tobacco-alcohol. Health education must therefore make the promotion of preventive strategies, concerning legal and illegal drugs, a priority in the education of adolescents.

[A cooperative program for the prevention of domestic accidents in children at the department of the Doubs. II. Educative aspects and evaluation]. / Programme coopératif de prévention des accidents domestiques de l'enfant dans le département du Doubs. II. Aspects éducatifs et évaluation.

Effective prevention of domestic accidents in children includes regimental and/or legislative action, information for parents and education of the children. The latter two strategies have been applied in the deparment of the Doubs in a cooperative health promotion program. Preschool and kindergarten structures were chosen and the pedagogical project involved acquainting the children with the idea of danger by use of a kit prepared by the "Comité Français d'Education pour la Santé" (French Committee for health education). This study was set up in two stages: "experimental" in 2 schools (1983-1984) and "operational" in 40 schools (1984-1985). In order to evaluate it, the population was divided into a control group and an experimental group. A total of 5,720 tests were carried out among 520 children. 494 parents and 82 teachers answered the questionnaires sent to them. The teachers were generally very positive about the effectiveness of education about dangers and the teaching activities which could be employed: discovery of environment, awareness of body, a.s.o. The changes in attitude were real and enduring among children. The parents changed their behavior significantly concerning the storing of poisonous products (medicines and household cleaning products), which allows to feel that this program can be effective in terms of risk reduction.

[Cooperative program for domestic accidents of children in the department of Doubs. Epidemiological aspects]. / Programme coopératif de prévention des accidents domestiques de l'enfant dans le département du Doubs. I. Aspects épidémiologiques.

This work presents the results of a survey carried out among 818 families in the department of the Doubs. Each family had a child between one and 6 years of age. Its aim was to come as close as possible to exploring morbidity in accidents by questioning parents about the accidents which took place a month before the investigation, and to study the influence of certain psychosocial factors on this pathology, for example the attitude of parents confronted with risks. The annual accident morbidity rate was 1,056 accidents per 1,000 children. In other words, each child has, on the average, one accident per year. Even though no significant difference between town and country has been noted, serious accidents occurred more frequently in rural areas. This may be explained by the way dangerous products are stored (medicines, household cleaning and agricultural products), looser parental surveillance (predominance at games outside home), as well as the fact that children are more often in the kitchen when they are indoors, which is potentially the most dangerous room. Classical notions of disturbing events occurring prior to the accident (divorce, moving, a.s.o.) and children who are "repeat offenders" have also been noticed. The examination of parental attitude in dealing with the possibility of accidents (instructive, lax or repressive) did not allow us to demonstrate in any significant way the influence of these attitudes on accidental morbidity. On the other hand the so-called "instructive" parents are the ones who best put away the poisonous products. There is therefore, an encouraging connection between attitude and behavior.