Raich A.,University of Barcelona |
Martinez-Sanchez J.M.,Institute Catala Doncologia Ico Idibell |
Martinez-Sanchez J.M.,International University of Catalonia |
Fu M.,Institute Catala Doncologia Ico Idibell |
And 2 more authors.
Adicciones | Year: 2015
Smoking is one of the most important causes of morbidity and mortality in developed countries. One of the priorities of public health programs is the reduction of its prevalence, which means millions of people quit smoking, but cessation programs often have modest results, especially within some population groups. The aim of this study was to analyze the variables determining the success of a multicomponent therapy program for smoking cessation. We conducted the study in the Tobacco Unit of the Hospital of Manresa, with 314 patients (91.4% have a medium or high level dependency). We observed that education and not living with a smoker, following a multimodal program for smoking cessation with psychological therapy and pharmacological treatment are relevant factors to quit. The abstinence rate is not associated with other factors such as sex, age, and the characteristics of the smoking behavior or psychiatric history. The combination of pharmacological and psychological treatment increased success rates in multicomponent therapy. Psychological therapy only also obtained positive results, though somewhat more modest. © 2015, Edita Socidrogalcohol. All rights reserved.
Fernandez-Rodriguez J.,Genetic Diagnosis Unit |
Castellsague J.,Genetic Diagnosis Unit |
Benito L.,Genetic Counseling Unit |
Benavente Y.,Institute Catala dOncologia ICO IDIBELL |
And 5 more authors.
Human Mutation | Year: 2011
Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patientQuantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicismFurthermore, the construction of a minigene with patient's mutation (c.3198 - 314G>A) confirmed its benign nature due to the leakiness of the splicing mechanism that generated a proportion of correctly spliced transcriptsHence, we concluded that the mild phenotype observed in this patient is the result of the presence of mosaicism together with the benign nature of a leaky NF1-splice mutationFinally, with the aim of developing a personalized therapeutic approach for this patient, we demonstrated correction of the splicing defect by using specific antisense morpholino oligomersOur results provide an example of the molecular complexity behind disease phenotypes and highlight the importance of using comprehensive genetic approaches to better assess phenotype-genotype correlations. © 2011 Wiley-Liss, Inc..
Folch C.,Center Destudis Epidemiologics Sobre Les Infeccions Of Transmissio Sexual da Of Catalonia Ceeis Cat |
Folch C.,CIBER ISCIII |
Alvarez J.L.,University Pompeu Fabra |
Casabona J.,Center Destudis Epidemiologics Sobre Les Infeccions Of Transmissio Sexual da Of Catalonia Ceeis Cat |
And 4 more authors.
Revista Espanola de Salud Publica | Year: 2015
Background: Sexual behavior in young people is infuenced by external factors that may increase their vulnerability. Objective: to describe sexual behavior and other indicators of sexual and reproductive health among young people (16 to 24 years) in Catalonia and to identify factors associated with sexual risk behaviors. Methods: Cross-sectional study in 2012 carried out by an online survey from a panel of population (n=800). Factors associated with not using a condom at last sexual intercourse were evaluated using multivariate logistic regression models. Results: 76.1% of boys and 83.3% of girls reported having had complete sexual intercourse (p=0.012). The proportion of boys and girls who reported casual partners was 39.7% and 22.5%, respectively. 31.4% of boys and 10.3% of girls reported having contacted partners through Internet. Not using a condom at frst sexual intercourse showed significant association with reporting not using a condom in the last sexual intercourse, for both, boys (OR= 2.50) and girls (OR= 3.18). Having contacted partners through the Internet (OR=2.29) was associated with this risky sexual behavior in boys, and having used the emergency contraception 3 or more times (OR=3.38) was associated in girls. Conclusions: There are differences in the sexual behavior of young people by sex, being condom use at frst sexual relationship a good predictor of condom use at last sexual intercourse. Boys show a higher number of casual partners than girls, as well as a higher use of the Internet to contact sexual partners.
Del Valle J.,Lhospitalet Of Llobregat |
Campos O.,Lhospitalet Of Llobregat |
Velasco A.,Lhospitalet Of Llobregat |
Darder E.,Lhospitalet Of Llobregat |
And 9 more authors.
Breast Cancer Research and Treatment | Year: 2011
In this study, we present a novel complex rearrangement in the BRCA1 gene. The genomic rearrangement was identified using one of the two commercially available MLPA BRCA1 kits but was not confirmed with the other. In this report, we present the full characterization at the DNA and RNA levels of a new partial deletion of exon 20 of BRCA1. This is a complex deletion with four breakpoints which promotes aberrant splicing with partial deletion of exon 20 plus the insertion of a cryptic exon corresponding to a fragment of intron 20. The aberrant splicing generates an abnormal transcript with a frameshift that will result in a truncated BRCA1 protein. © Springer Science+Business Media, LLC. 2011.
Lips E.H.,International Agency for Research on Cancer IARC |
Gaborieau V.,International Agency for Research on Cancer IARC |
McKay J.D.,International Agency for Research on Cancer IARC |
Chabrier A.,International Agency for Research on Cancer IARC |
And 49 more authors.
International Journal of Epidemiology | Year: 2010
Background: Genetic variants in 15q25 have been identified as potential risk markers for lung cancer (LC), but controversy exists as to whether this is a direct association, or whether the 15q variant is simply a proxy for increased exposure to tobacco carcinogens. Methods: We performed a detailed analysis of one 15q single nucleotide polymorphism (SNP) (rs16969968) with smoking behaviour and cancer risk in a total of 17 300 subjects from five LC studies and four upper aerodigestive tract (UADT) cancer studies. Results: Subjects with one minor allele smoked on average 0.3 cigarettes per day (CPD) more, whereas subjects with the homozygous minor AA genotype smoked on average 1.2 CPD more than subjects with a GG genotype (P<0.001). The variant was associated with heavy smoking (>20 CPD) [odds ratio (OR)=1.13, 95% confidence interval (CI) 0.96-1.34, P=0.13 for heterozygotes and 1.81, 95% CI 1.39-2.35 for homozygotes, P<0.0001]. The strong association between the variant and LC risk (OR=1.30, 95% CI 1.23-1.38, P = 1 × 10-18), was virtually unchanged after adjusting for this smoking association (smoking adjusted OR=1.27, 95% CI 1.19-1.35, P=5 × 10-13). Furthermore, we found an association between the variant allele and an earlier age of LC onset (P=0.02). The association was also noted in UADT cancers (OR=1.08, 95% CI 1.01-1.15, P=0.02). Genome wide association (GWA) analysis of over 300 000 SNPs on 11 219 subjects did not identify any additional variants related to smoking behaviour. Conclusions This study confirms the strong association between 15q gene variants and LC and shows an independent association with smoking quantity, as well as an association with UADT cancers. © Published by Oxford University Press on behalf of the International Epidemiological Association. The Author 2009; all rights reserved.
Castellanos E.,Institute of Predictive and Personalized Medicine of Cancer IMPPC |
Rosas I.,Institute of Predictive and Personalized Medicine of Cancer IMPPC |
Solanes A.,Institute Catala dOncologia ICO |
Bielsa I.,Hospital Germans Trias i Pujol HUGTiP |
And 7 more authors.
European Journal of Human Genetics | Year: 2013
Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder affecting about 1:33 000 newborns, mainly characterized by the development of tumors of the nervous system and ocular abnormalities. Around 85% of germline NF2 mutations are point mutations. Among them, ∼25% affect splicing and are associated with a variable disease severity. In the context of our NF2 Multidisciplinary Clinics, we have identified a patient fulfilling clinical criteria for the disease and exhibiting a severe phenotype. The patient carries a deep intronic mutation (g. 74409T>A, NG-009057.1) that produces the insertion of a cryptic exon of 167pb in the mature mRNA between exons 13 and 14, resulting in a truncated merlin protein (p.Pro482Profs*39). A mutation-specific antisense phosphorodiamidate morpholino oligomer was designed and used in vitro to effectively restore normal NF2 splicing in patient-derived primary fibroblasts. In addition, merlin protein levels were greatly recovered after morpholino treatment, decreasing patient's fibroblasts in vitro proliferation capacity and restoring cytoeskeleton organization. To our knowledge, this is the first NF2 case caused by a deep intronic mutation in which an in vitro antisense therapeutic approximation has been tested. These results open the possibility of using this approach in vivo for this type of mutation causing NF2. © 2013 Macmillan Publishers Limited. All rights reserved.