Association of neurexin 3 polymorphisms with smoking behavior.

The Neurexin 3 gene (NRXN3) has been associated with dependence on various addictive substances, as well as with the degree of smoking in schizophrenic patients and impulsivity among tobacco abusers. To further evaluate the role of NRXN3 in nicotine addiction, we analyzed single nucleotide polymorphisms (SNPs) and a copy number variant (CNV) within the NRXN3 genomic region. An initial study was carried out on 157 smokers and 595 controls, all of Spanish Caucasian origin. Nicotine dependence was assessed using the Fagerström index and the number of cigarettes smoked per day. The 45 NRXN3 SNPs genotyped included all the SNPs previously associated with disease, and a previously described deletion within NRXN3. This analysis was replicated in 276 additional independent smokers and 568 controls. Case-control association analyses were performed at the allele, genotype and haplotype levels. Allelic and genotypic association tests showed that three NRXN3 SNPs were associated with a lower risk of being a smoker. The haplotype analysis showed that one block of 16 Kb, consisting of two of the significant SNPs (rs221473 and rs221497), was also associated with lower risk of being a smoker in both the discovery and the replication cohorts, reaching a higher level of significance when the whole sample was considered [odds ratio = 0.57 (0.42-0.77), permuted P = 0.0075]. By contrast, the NRXN3 CNV was not associated with smoking behavior. Taken together, our results confirm a role for NRXN3 in susceptibility to smoking behavior, and strongly implicate this gene in genetic vulnerability to addictive behaviors.

[Detection of cognitive impairment in the population of persons older than 64 years: first phase of the Cuida'l project]. / Detección del deterioro cognitivo en población mayor de 64 años: primera fase del proyecto Cuida'l.

UNLABELLED: OBJECTIVE. To know the proportion of people with positive result in test. Design. Cross sectional study in 53 health centers. SETTING. Primary care. PARTICIPANTS: Aleatory sample of non-institutionalised, elder than 64 years patients attended in the 53 health centers. VARIABLES: age, sex, civil status, and educational level. The detection of cognitive deterioration (CD) was carried out in primary care units with Folstein's Mini Mental Test (MMT) and the Isaacs Set-Test in case of illiteracy. Cut-off points 24 and 27 respectively. CD predictor variables analysis with logistic regression. MAIN RESULTS: The tests were applied to 4,467 individuals (56.1% females). There were found as possible cases of CD 399 patients (72.2% with MMSE). Positive percentage was 7.78% (95% CI, 5.69%-10.99%) in males and 9.45% (95% CI, 7.31%-12.43%) in female, adjusting with indirect method, according to the 1996 Catalonia list of inhabitants. Significant predictor factors were found with the multivariate analyses: primary educational level in front of illiteracy (OR=1.40, 95% CI, 1.13%-1.74%) and age-groups: 74-79 years, 75-79 years and y >= 80 years in front of <70 years old (OR=1,48, 95% CI, 1.02%-2.14%, OR=2.29; 95% CI, 1.60%-3.28% and OR=5,02; 95% CI, 3.59%-7.03% respectively). CONCLUSIONS: The cognitive deterioration prevalence increases with age and it is less frequent in individuals with higher studies Using MMSE and Set-Test we found several possible cases of cognitive deterioration in our population.

Detección del deterioro cognitivo en población mayor de 64 años: primera fase del proyecto Cuida'l / Detection of cognitive impairment in the population of persons older than 64 years: first phase of the Cuida'l project

Objetivo. Estudiar la prevalencia de positivos a un test de detección de deterioro cognitivo (DC) en la población > 64 años de Cataluña y sus factores determinantes. Diseño. Estudio transversal multicéntrico. Ámbito. Cincuenta y tres centros de atención primaria. Sujetos. Muestra aleatoria de 5.300 individuos (100 por centro) de población adscrita, no institucionalizada > 64 años. Mediciones. La detección de DC se realizó en las consultas de atención primaria mediante el test Mini Mental State Examination de Folstein (MMSE), y el Settest de Isaacs en caso de analfabetismo. Puntos de corte, < 24 (MMSE) o < 27 (Settest). Análisis de variables predictoras (edad, sexo, estado civil y nivel de estudios) de posible DC mediante regresión logística. Resultados. Se administró el test a 4.467 individuos (56,1 por ciento, mujeres). Se diagnosticaron como posibles casos de DC 399 pacientes (72,2 por ciento por MMSE). La prevalencia de positivos se estimó en 7,78 por ciento (IC del 95 por ciento, 5,69-10,99 por ciento) en varones y 9,45 por ciento (IC del 95 por ciento, 7,31-12,43 por ciento) en mujeres, ajustando por el método indirecto según el padrón de Cataluña de 1996. En el análisis multivariado resultaron factores predictores los estudios primarios respecto al analfabetismo (OR =1,40; IC del 95 por ciento, 1,13-1,74 por ciento) y los grupos de edad: 74-79 años, 75-79 años y 80 años respecto a los < 70 años (OR = 1,48; IC del 95 por ciento, 1,022,14 por ciento, OR: 2,29; IC del 95 por ciento: 1,60-3,28 por ciento y OR = 5,02; IC del 95 por ciento, 3,59-7,03 por ciento, respectivamente).Conclusiones. La prevalencia de posible deterioro cognitivo aumenta con la edad y es menos frecuente en los individuos con mayor nivel de estudios. Mediante el MMSE y Set-test se detecta un gran número de posibles DC en la población (AU)

[Concordance among Mini-Examen Cognoscitivo and Mini-Mental State Examination in cognitive impairment screening]. / Concordancia entre el Mini-Examen Cognoscitivo y el Mini-Mental State Examination en el cribado del déficit cognitivo.

OBJECTIVES: To compare the concordance between two cognitive impairment (CI) screening tests: the 30-point Folstein's Mini Mental State Examination (MMSE) and their validated and slightly modified spanish translation, the 35-point Lobo's Mini-Examen Cognoscitivo (MEC). DESIGN: Analytical cross-sectional multicenter study. SETTING: Primary care. PATIENTS: Randomized sample of subjects aged 65 years or more attended in 54 primary care centers in Catalonia. Inclusion of 3,167 subjects. Institutionalized patients were excluded. MEASUREMENTS: After a training period, primary care doctors and nurses administered MMSE and MEC simultaneously to their own patients. Standardization of variables. RESULTS: Age 74 (6.1) years-old, 1,611 (50.9%) women, 954 (30.1%) illiterate or without primary education. Prevalence of CI according to MMSE was 16.52% (n = 449) and according to MEC 5,49% (n = 165) (P<.001). Although intraclass correlation coefficient was 0,864 (95% CI, 0.855-0.873), the kappa index at score 24 for both tests was 0.468, but it increased up to 0.788 taking 20 and 23 scores for MMSE and MEC, respectively. At multivariate analysis, low educational level, and age more than 80 years-old predict a bad concordance among both tests. CONCLUSIONS: In spite of good correlation between MMSE and MEC, both detect different CI prevalences with the cut-off point at 23/24. Their agreement is only moderated in practice, because we interpret tests in a dichotomic way (CI versus no-CI). In our experience, we cannot use them indistinctly with the cut-off point at 23/24, especially in subjects with low educational level or aged 80 or more years.

[Types of studies published in the journal Atencion Primaria between 1984-1990]. / Tipos de estudio publicados en la revista Ateención primaria (1984-1990).

OBJECTIVE: To determine the frequency and the main methodological characteristics of the epidemiological designs used in the research studies published in the journal Atencion Primaria between 1984 and 1990. DESIGN: A descriptive study. MATERIAL: Included are all the articles presenting data produced by the authors themselves in the context of a research study and published in the sections of original articles, special contributions or clinical notes in the issues of the journal Atencion Primaria between 1984 and 1990. MEASUREMENTS AND MAIN RESULTS: A data-gathering questionnaire was used, whose concordance was previously assessed blindly by two observers. There were 324 articles included. Of these, 93% were descriptive studies, out of which 27% were prevalence studies. Of these prevalence studies, 15.7% were conducted among the population as a whole. A questionnaire, which had been previously validated in 47.7% of cases, was used in 13.5% of the studies. Experimental research accounted for 21 studies (6.5%), of which 85% had an explicit control group. CONCLUSIONS: Only a small proportion are analytical studies. The majority of descriptive studies are carried out among the population attending for treatment.