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C Alvarez LajonchereThis article is an interview with Dr. Celestino Alvarez Lajonchere, Director of the National Institute of Sex Education in Havana, Cuba. The topics of discussion include reproductive rights issues, contraception, and abortion law; sex education in Cuba, homosexuality, and national policy on AIDS. F Alvarez Caro,J Gómez Martínez,E Maseda Alvarez,F Alvarez BercianoChronic cholesteatomatous otomastoiditis is a rare entity in childhood, and its spontaneous intra- or extracranial fistulization is even more uncommon. The otologic sequelae are always important, especially when the disease is long standing. The agents causing chronic otomastoiditis are the same as... ( view more ) those that can cause otitis. When there is associated cholesteatoma, Gram-negative and anaerobic bacilli are often present, but not group F beta-hemolytic streptococcus. The case of an 8-year-old boy with chronic cholesteatomatous otomastoiditis and spontaneous fistulization caused by group F beta-hemolytic streptococcus is reported. ( view less ) Jose Luis Ulla Rocha,Maria Victoria Alvarez Sanchez,Javier Paz Esquete,Estela Fernandez Salgado,Carlos Alvarez Alvarez,Manuel Javier Vazquez Sanluis,Luis Ledo Barro,Enrique Vazquez Astray CONTEXT: When assessing the bilio-pancreatic region, collating the findings of serum CA 19-9 values together with findings from various imaging tests--especially endoscopic ultrasonography--is not a simple issue in daily clinical practice. AIM: To assess the usefulness of endoscopic ultrasonography... ( view more ) in an Endoscopic Ultrasonography Unit in two situations: patients with asymptomatic elevation of serum CA 19-9 and patients who presented with abdominal pain plus elevation of CA 19-9. METHODS: A retrospective study of those patients who underwent radial endoscopic ultrasonography between October 2004 and September 2005 in our institution, considering an elevation of CA 19-9 (equal to or greater than 37 U/mL) with or without symptoms. In each case, the parameters recorded were: levels of CA 19-9 one week before EUS, results from other imaging techniques (US, helical CT), and final diagnosis according to pathological and/or clinical evolution criteria. Patients with previous attacks of acute pancreatitis and also those who presented with bile duct dilation or space-occupying lesions in image studies (US and CT) were excluded. Twenty-two patients met the inclusion criteria. RESULTS: Asymptomatic elevation of CA 19-9 was found in 15 patients while 7 patients had elevated CA 19-9 levels as well as pain of uncertain origin. The results of EUS in the asymptomatic patients were: chronic pancreatitis in 7 patients, no pancreatic alterations in 3 patients, and renal cysts, choledocholithiasis, microlithiasis and liver cirrhosis in one patient, respectively. In patients with abdominal pain, EUS showed chronic pancreatitis in 6 cases and adenocarcinoma of the tail of the pancreas in the remaining patient. CONCLUSIONS: When EUS was indicated for the asymptomatic elevation of CA 19-9, the main findings were benign diseases. EUS was useful in studying patients with idiopathic abdominal pain and a slight elevation of CA 19-9 since it allowed us to detect chronic pancreatitis and even early adenocarcinoma of the pancreatic tail. ( view less ) J C Méndez Colunga,J C Alvarez Méndez,J M Carreño Villarreal,M J Alvarez Zapico,C Manrique Estrada,M L Fernández Alvarez,F García Díez Since the 90s there increasing interest in early detection of neonatal hearing loss due to the feasibility of universal neonatal screening as well as to the possibility of early intervention. This has led to set up neonatal screening programs based upon otoacoustic emissions and to a great increase... ( view more ) in the number of publications in the field. Our hospital started a neonatal hearing loss screening program using otoacoustic emission in March 2000. We used a Capella Cochlear Emissions (MADSEN electronics) equipment. Until May 2003 we have performed the test in 6372 children with a median age of 71 days. In our study, the sensibility of the test was 90.9% and the specificity 99.7%. Our results are similar to those reported in the literature although the age of the children was higher and we have found an incidence of hearing loss lower than other studies. ( view less ) O Rodríquez Maroto,S Llorente Alvarez,M Casanueva Gutiérrez,B Alvarez Alvarez,G de la Riva Miranda OBJECTIVES: To analyse the assistance procedure to the deceased in a Hospital Emergency Service. METHODS: Descriptive retrospective study of the deceased during 2000 analysing the clinic variables, triage times, attention and total staying, diagnostic tests, treatments as well as the place of decea... ( view more )se within the service and the family presence. RESULTS: 146 patients were included, 80.6% of which were catalogued as life urgency (red code), conditioning significantly lower first exploration times than the rest. Diagnose tests were made to the 87%, 40% received resuscitation manoeuvres; finally 75.5% were given some medication. Major analgesia and sedative treatments were mostly employed with cancer patients. 42.2 % die within the first hour and 83% before six hours. Those who die after this time die in the observation box. 31% die accompanied by familiars. CONCLUSIONS: Our present triage system does not seem to be the adequate to initially evaluate the patients who die at the Emergency Service. Nearly all who die six hours after their entry die in the observation box, accomplishing one of its operation expectatives. We observe a scarce use of palliative treatments. Most of our patients die alone. ( view less ) S López Alvarez,C Bonome González,B Izquierdo Villarroya,M J Barbeito Vilariño,A Etxainz Alvarez,F Alvarez Refojo A 72-year-old man, smoker, with insuline-dependent diabetes and dislipemia underwent left pneumonectomy. Several episodes of intraoperative hemodynamic instability associated with electrocardiographic ST segment alterations were attributed to surgical manipulation; ischemia was not suspected. Cardi... ( view more )orespiratory failure, related to extensive anterior infarction, developed a few minutes after admission to the postoperative intensive care unit (PICU). Cardiopulmonary resuscitation and mechanical ventilation were required. The patient responded to treatment with beta blockers, platelet antiaggregants and statins. Tube was removed a few hours later and the patient was discharged from the PICU on the fifth day. Pneumonectomy has a high rate of morbidity and mortality, with complications mainly arising in the lung and heart. Risk from anesthesia is considered to be great in this procedure, and for that reason it is essential to identify intraoperative myocardial ischemia so that it can be treated aggressively. In patients at high cardiovascular risk who undergo lung resection, intraoperative episodes of myocardial ischemia are associated with a high incidence of postoperative miocardial infarction. Therefore, careful postoperative monitoring is needed and measures should be taken to prevent angina. Early extubation should be avoided. ( view less ) B Alvarez,R Radi We have reported previously that the apparent rate of peroxynitrite (ONOO(-) ) decay, as followed from its absorbance at 302 nm, decreases in the presence of hydrogen peroxide, mannitol and ethanol (Alvarez et al., 1995, Chem. Res. Toxicol. 8:859-864; Alvarez et al., 1998, Free Radic. Biol. Med. 24... ( view more ):1331-1337). Recently, two papers confirmed the observation and proposed that this slowing effect was due to the formation of absorbing peroxynitrate (O(2) NOO(-) ) as intermediate (Goldstein and Czapski, 1998, J. Am. Chem. Soc. 120:3458-3463; Hodges and Ingold, 1999, J. Am. Chem. Soc. 121:10695-10701). Peroxynitrate would be formed from the reaction of peroxynitrite-derived nitrogen dioxide with superoxide. Superoxide, in turn, would arise from the one-electron oxidation of hydrogen peroxide, or from the reaction of reductive radicals derived from mannitol and ethanol with dioxygen. In agreement with this concept, we show herein that under the conditions of our previous work, the slowing effect is prevented by superoxide dismutase and, in the case of mannitol and ethanol, by reducing the dioxygen concentration of the reaction solutions. Thus, superoxide formation is necessary for the decrease in the rate of absorbance decay. In addition, by simulations using known rate constants and absorption coefficients, we show that the slowing effect can be quantitatively accounted for by the formation of peroxynitrate. ( view less ) R Alvarez Sintes,R Alvarez Sintes,M R Alvarez CastroBronchodilator effect and toxicity of theophylline 300 mg twice a day (E1), Salbutamol 4 mg tid (E2), their combination in higher (200/4 mg, E3), and lower doses (100/2 mg E4), and placebo calcium lactate (300 mg) tid (E5) were compared in 30 patients with bronchial asthma in a randomized cross ove... ( view more )r trial. Statistically significant second (FEV1) was observed in all the active treatment groups (E1, to E4) compared with placebo (E5). Almost all the regimens were tolerated well and no patient showed major adverse reaction or cardiotoxicity necessitating withdrawal of the drug. On the other hand, minor adverse reactions were common and the high dose combination (E3) was found to have more adverse reactions than the low dose combination and either drug used alone. ( view less ) M T Alonso,J Alvarez,M Montero,A Sanchez,J García-Sancho We have studied the relation between the filling state of the intracellular Ca2+ stores and the plasma-membrane permeability to Mn2+, used here as a Ca2+ surrogate for Ca2+ channels. Emptying of the intracellular Ca2+ stores either by incubation in Ca(2+)-free medium or by treatment with low concen... ( view more )trations of the Ca2+ ionophore ionomycin accelerated the influx of Mn2+. Refilling of the Ca2+ stores by incubation in Ca(2+)-containing medium restores low Mn2+ permeability. This Ca(2+)-store-regulated permeability was inhibited by Ni2+ and by cytochrome P-450 inhibitors. Stimulation of platelets with thrombin produced Ca2+ release from the intracellular stores, which was followed, after a temperature-dependent lag (2 s at 37 degrees C; 5 s at 18 degrees C), by an acceleration of Mn2+ influx. Cytochrome P-450 inhibitors prevented the thrombin-induced Mn2+ influx, with little effect on the Ca2+ mobilization from the intracellular stores. Ki values were similar to those estimated for inhibition of the store-regulated permeability in non-stimulated platelets. Similar results were found in platelets stimulated by platelet-activating factor or by ADP. We propose that agonist-induced Ca2+ (Mn2+) influx in platelets is secondary to the emptying of the intracellular Ca2+ stores. The activation of the plasma-membrane Ca2+ (Mn2+) pathway may take place by a mechanism involving microsomal cytochrome P-450, similar to that described previously in thymocytes [Alvarez, Montero & García-Sancho (1991) Biochem. J. 274, 193-197] and neutrophils [Montero, Alvarez & García-Sancho (1991) Biochem. J. 277, 73-79]. ( view less ) F Alvarez Guisasola,J Franch Nadal,F Diego Domínguez,J C Alvarez Torices,J L Alvarez FernándezThe aim of the present study was an approach to the epidemiological status of tuberculosis in the León province. To this end, we studied the morbidity through the EDOs and we carried out two tuberculin surveys during 1988-1989 to assess RAI. The results showed infection prevalences of 1.19 and 1.09... ( view more ) at six years of age for the two study years, respectively, with a RAI between 0.118 and 0.079. We conclude that tuberculosis still is an important health problem. The RAI indicates that our level is that of a developed country. We also discuss the supposed increase in the frequency of tuberculosis. ( view less ) F Alvarez Guisasola,J Franch Nadal,F Diego Domínguez,J C Alvarez Torices,J L Alvarez Fernández Among the epidemiological barometers useful in evaluating tuberculosis, the Annual Infection Risk is the one which has been shown to be the most useful. This rate can be calculated indirectly (by way of Tables) or directly (by testing the same group of individuals twice over a one-year period). The... ( view more ) most ideal method for making these calculations, by consecutively having the same population of 6 year-olds at intervals over a one-year period, is presented. The results indicate a statistically significant difference (P less than 0.001) between the two methods, an indirect AIR of 0.079 to 0.118 being obtained, as related to a Case Rate of 0.44. The fact that said difference is probably due to the impact of the BCG vaccination, which leads to pressure phenomena, and finally, whilst we are not free of said vaccination, this index should be calculated indirectly, based on tuberculosis infection prevalence rates. ( view less ) J P Rodrigo Tapia,C Suárez Nieto,P Sánchez Lazo,S Ramos,E Coto,V Alvarez,I Alvarez Alvarez,L A García González,J A Martínez Sánchez In most of the studies about molecular alterations in squamous cell carcinomas of the head and neck there is not distinction between the different subsites of this area. The objective of this study is to describe the molecular alterations in squamous cell carcinomas of the oropharynx. Twenty-nine o... ( view more )ropharyngeal carcinomas, with a minimum follow-up of 36 months, were studied. The molecular alterations analyzed were: the amplification of 11q13 region (in the 29 cases), and the MYC and ERBB1 oncogenes (in 22 cases); the integration of Human Papillomavirus (HPV) types 6b and 16 (in 22 cases); the loss of heterozygosity (LOH) of p53 and N-acetyltransferase-2 (NAT2) gene (in 12 and 13 informative cases, respectively); and the cellular DNA content (in 13 cases). The most frequent alterations found were the LOH at p53 (67%), and NAT2 (54%) locus, followed by 11q13 amplification (49%). ERBB1 amplification was found in 14% of the cases, and MYC amplification only in one (5%). Integration of the HPV was found in 23% of the cases. Nine (69%) of the 13 analyzed cases were aneuploid. The only alteration with a prognostic significance was 11q13 amplification that showed a tendency to be associated with a higher frequency of nodal metastases and tumor recurrence. ( view less ) Miguel Martín,Alvaro Rodríguez-Lescure,Amparo Ruiz,Emilio Alba,Lourdes Calvo,Manuel Ruiz-Borrego,Blanca Munárriz,César A Rodríguez,Carmen Crespo,Enrique de Alava,José Antonio López García-Asenjo,María Dolores Guitián,Sergio Almenar,Jesús Fernando González-Palacios,Francisco Vera,José Palacios,Manuel Ramos,Jose Manuel Gracia Marco,Ana Lluch,Isabel Alvarez,Miguel Angel Seguí,José Ignacio Mayordomo,Antonio Antón,José Manuel Baena,Arrate Plazaola,Alfonso Modolell,Amadeu Pelegrí,Jose Ramón Mel,Enrique Aranda,Encarna Adrover,José Valero Alvarez,José Luis García Puche,Pedro Sánchez-Rovira,Sonia Gonzalez,José Manuel López-Vega,GEICAM 9906 Study Investigators  BACKGROUND: Taxanes are among the most active drugs for the treatment of metastatic breast cancer, and, as a consequence, they have also been studied in the adjuvant setting. METHODS: After breast cancer surgery, women with lymph node-positive disease were randomly assigned to treatment with fluoro... ( view more )uracil, epirubicin, and cyclophosphamide (FEC) or with FEC followed by weekly paclitaxel (FEC-P). The primary endpoint of study-5-year disease-free survival (DFS)-was assessed by Kaplan-Meier analysis. Secondary endpoints included overall survival and analysis of the prognostic and predictive value of clinical and molecular (hormone receptors by immunohistochemistry and HER2 by fluorescence in situ hybridization) markers. Associations and interactions were assessed with a multivariable Cox proportional hazards model for DFS for the following covariates: age, menopausal status, tumor size, lymph node status, type of chemotherapy, tumor size, positive lymph nodes, HER2 status, and hormone receptor status. All statistical tests were two-sided. RESULTS: Among the 1246 eligible patients, estimated rates of DFS at 5 years were 78.5% in the FEC-P arm and 72.1% in the FEC arm (difference = 6.4%, 95% confidence interval [CI] = 1.6% to 11.2%; P = .006). FEC-P treatment was associated with a 23% reduction in the risk of relapse compared with FEC treatment (146 relapses in the 614 patients in the FEC-P arm vs 193 relapses in the 632 patients in the FEC arm, hazard ratio [HR] = 0.77, 95% CI = 0.62 to 0.95; P = .022) and a 22% reduction in the risk of death (73 and 95 deaths, respectively, HR = 0.78, 95% CI = 0.57 to 1.06; P = .110). Among the 928 patients for whom tumor samples were centrally analyzed, type of chemotherapy (FEC vs FEC-P) (P = .017), number of involved axillary lymph nodes (P < .001), tumor size (P = .020), hormone receptor status (P = .004), and HER2 status (P = .006) were all associated with DFS. We found no statistically significant interaction between HER2 status and paclitaxel treatment or between hormone receptor status and paclitaxel treatment. CONCLUSIONS: Among patients with operable breast cancer, FEC-P treatment statistically significantly reduced the risk of relapse compared with FEC as adjuvant therapy. ( view less ) Concepción Alvarez,Raquel Alvarez,Purificación Corchete,José Luis López,Concepción Pérez-Melero,Rafael Peláez,Manuel MedardeWe describe the synthesis and biological evaluation of a series of diarylmethyloxime and diarylmethylhydrazone analogues that contain an indole ring and different modifications on the nitrogen of the bridge. Several compounds showed potent tubulin polymerization inhibitory action as well as cytotox... ( view more )ic activity against cancer cell lines. The N-methyl-5-indolyl substituted analogues are more potent than ethyl substituted ones. The most potent inhibitors of tubulin polymerization are the diarylketones and the diaryloximes. The cytotoxicity against several cancer cell lines is lower for the oximes than for the ketones. Other substitutions on the imine nitrogen greatly reduce the tubulin inhibitory and/or cytotoxic potencies. ( view less ) Pilar A Saiz,Maria P Garcia-Portilla,Celso Arango,Blanca Morales,Maria-Teresa Bascaran,Sara Martinez-Barrondo,Gerardo Florez,Emilio Sotomayor,Begoña Paredes,Cesar Alvarez,Gema San Narciso,Eduardo Carreño,Igor Bombin,Victoria Alvarez,Eliecer Coto,Juan M Fernandez,Manuel Bousoño,Julio Bobes BACKGROUND: To date, research examining the relationship between serotonergic genes and obsessive-compulsive disorder (OCD) has yielded conflicting results. The purpose of this study is to investigate the association between four serotonergic polymorphisms (STin2 VNTR and 5-HTTLPR of the SLC6A4 gen... ( view more )e, and A-1438G (rs6311) and T102C (rs6313) of the HTR2A gene) and OCD. METHODS: 99 OCD patients, 456 non-OCD psychiatric patients, and 420 healthy controls from a homogeneous Spanish Caucasian population were genotyped using standard methods. RESULTS: All groups showed Hardy-Weinberg equilibrium for the analyzed genetic variability. A-1438G and T102C polymorphisms were in complete linkage disequilibrium. OCD patients showed an excess of STin2.12 carriers (12/12, 12/10, and 12/9 genotypes) compared with healthy controls (chi(2) (1)=7.21, corrected p=0.021; OR=3.38, 95% CI=1.32-8.62) and non-OCD psychiatric patients (chi(2) (1)=6.70, corrected p=0.030; OR=3.24, 95% CI=1.27-8.26). However, no differences were found between non-OCD patients and healthy controls (chi(2) (1)=0.05, corrected p>1; OR=1.04, 95% CI=0.72-1.51). No significant differences were found with respect to A-1438G and 5-HTTLPR polymorphisms. CONCLUSIONS: Our data provide supporting evidence of an association between the STin2 VNTR polymorphism of the SLC6A4 gene and OCD. ( view less ) M Vallina-Victorero,F Vaquero,A Alvarez,M J Ramos,M Vicente,J Alvarez AIM: The aim of this study was to determine the prevalence of carotid stenosis (CS) in the over-65 population segment residing in a catchment area (Gijón) served by the Asturias Health Service (Spain) as a necessary step in planning medical care for treating cerebrovascular disease in the elderly. ... ( view more )METHODS: In this descriptive transversal study, 232 subjects (114 men and 118 women) randomly chosen from health card data underwent colour-flow duplex scanning of the supra-aortic trunks. RESULTS: The prevalence of CS in this sample was 21.5%. When stratified by sex and age (65-74 and >75 years of age), the CS rate was 5 points higher in the older than in the younger group, and 4 points higher among males (23.6%) than among females (19.2%). CONCLUSION: Approximately one in every 5 subjects over 65 years of age presents with CS; CS prevalence was higher in the over-75s and among males, although the differences were not statistically significant. ( view less ) Beatriz Alvarez,Javier Alvarez,Aurora Menéndez,José A Guijarro Flavobacterium psychrophilum is a psychrotrophic fish-pathogenic bacterium that causes cold water disease (CWD) in salmonids. By means of Tn4351 mutagenesis a mutant named FP1033, deficient in growth on iron-depleted medium, was previously isolated. FP1033 recovered the parental phenotype in the pr... ( view more )esence of iron. The gene disrupted by the transposon in this mutant encoded a protein with similarity to ExbD proteins, which are members of the TonB complex system involved in iron uptake mediated by siderophores. Analysis of the DNA surrounding the transposon insertion showed the presence of a tonB cluster of genes composed of exbB, two exbD (exbD1 and exbD2) and tonB loci. RT-PCR analysis and complementation studies indicated that these genes are transcribed as an operon and that the exbD2 : : Tn4351 phenotype was caused by the lack of ExbD2. FP1033 showed decreased virulence and conferred a high level of protection in rainbow trout fry after vaccination. This is believed to be the first report of a F. psychrophilum attenuated strain that induces a protective immune response in rainbow trout against CWD. These results suggest that the exbD2 locus from this particular TonB system is a suitable target to generate a live attenuated vaccine. ( view less ) Julio Antonio González-Pienda,Luis Alvarez,Paloma González-Castro,José Carlos Núñez,Ana Bernardo,David Alvarez The aim of this study is to provide information about the effects of strategic training in the area of social sciences (1) on the real level, as well as perceived competence in terms of the students' skills to select, organise and produce information; and (2) on their attitude and motivation toward... ( view more )s working in this area of the curriculum. 107 students took part in this study, 57 of whom were the control group and 50 the experimental one. They were all enrolled in the third year of secondary school (9th year). The teachers and students who took part in this experience followed an on-line course to manage the <> strategy for approximately three months. Subsequently, the teacher introduced the tool in class, applying it both from a conceptual and a procedural point of view. The results show that the strategic training implemented in this study greatly improved written understanding procedures (both literal and inferential), increased perceived competence to manage internal information (selection, organization, and elaboration), and generated positive changes in terms of students' attitude and motivation towards working in the area of social sciences. ( view less ) Eva Alvarez Martino,Marina Alvarez Hernández,Pilar Castro Pañeda,María A Campo Mon,Eva Fueyo Gutiérrez The main purpose of this article is to analyse integration in Compulsory Secondary School and the variables that teachers perceive as its indicators. More specifically, we wished to determine teachers' experience, their perceptions of integration students' achievement, participation, acceptance and... ( view more ) involvement, and their appraisal of various measures in order to improve integration. Various preferred means of schooling and teachers' perception of the functioning of integration are analysed with a Likert-scaled questionnaire made up of 114 items. The sample comprised 242 secondary education teachers. The results show that the most poorly integrated group of students had behavioural problems and that a significant percentage of the teachers would prefer not to have these students in their classrooms. According to the teachers, integration does not work effectively with some groups of students, mainly due to the lack of resources and adequate strategies. ( view less ) Edgardo O Alvarez,Pablo A Alvarez Exploration is one of most basic adaptive behavioural responses, giving the animal an important evolutionary advantage to survive in a changing environment. Inspection of novel environments might be come with motivated exploratory behaviour. In spite that this type of exploration in the rat is know... ( view more )n for many years, little attention has been given to the intrinsic mechanisms or the brain structures that are involved in. In the present work the hippocampus, the neurotransmitter histamine, and the geometrical features of novel objects were examined in a model of conflictive and non-conflictive exploration in the rat which evaluates incentive-motivated exploration. Young adult intact rats were tested in a neutral non-conflictive behavioural activity detector (OVM), with (eOVM) or without (sOVM) novel objects. Three different objects were used: a box, a toy duck, and a tower. Results show that animals decrease its general motor activity (horizontal, ambulatory and non-ambulatory activity) in favor to exploration of the objects. Motivated exploration was not the same for all three objects. Rats explored significantly more the Tower and the Box objects than the Duck item. Behavioral patterns of hippocampus-implanted rats showed decreased scores in motor activity but maintained the difference in the relation of "without/with objects" exploration. When hippocampus-implanted rats were tested in a conflictive exploration device (the elevated asymmetric plus-maze), exploration of the No Wall arm, considered the most fear-inducing environment, was significantly more explored by the animal when the tower object was positioned at its end than when it was absent. Microinjection into the ventral hippocampus of histamine abolished this motivated exploratory response. Pre-treatment with pyrilamine, and not with ranitidine, was effective to block the inhibitory effect of histamine on the object motivated exploration. Results confirm that the hippocampus is involved on incentive motivated exploration, and suggest that histamine is part of an analyzing neuronal circuit of novelty incentivating behavioural responses in rats. ( view less ) P A Sáiz,M P García-Portilla,C Arango,B Morales,S Martínez-Barrondo,C Alvarez,G San Narciso,E Carreño,V Alvarez,E Coto,J Bobes OBJECTIVE: To investigate the association between four polymorphisms of the 5-HT(2A) receptor and 5-HT transporter genes and heroin dependence. METHODS: 113 heroin- dependent patients (DSM-IV criteria) and 420 unrelated healthy controls from Asturias (Northern Spain) were genotyped using standard m... ( view more )ethods. RESULTS: There was an apparent difference in the distribution of genotypes for A-1438G polymorphisms (p = 0.024, not significant after Bonferroni correction). The 5-HT(2A) -1438A allele was significantly more common in patients than controls [0.55 and 0.45, respectively; corrected p = 0.042, OR = 1.51 (95% CI = 1.13-2.03)]. An interaction was observed between A-1438G of 5-HT(2A) and 5-HTT polymorphisms. The association between the -1438AA vs. AG/GG genotypes and heroin dependence was enhanced in the presence of 12-repeat 5-HTT VNTR and short 5-HTTLPR alleles [24.8% in heroin-dependent patients vs. 12.6% in controls; corrected p = 0.045, OR = 2.28 (95% CI = 1.36-3.82)]. CONCLUSIONS: Our findings support a contribution of the 5-HT(2A) gene to susceptibility to heroin dependence, as well as a possible synergistic effect of 5-HT(2A) and 5-HTT genes on susceptibility to heroin dependence. ( view less ) Gloria-J Alvarez Gómez,Efraín Alvarez Martínez,Raúl Jiménez Gómez,Yolanda Mosquera Silva,Angela María Gaviria Núñez,Adriana Garcés Agudelo,Alexander Alonso Duque,Alexander Zabala Castaño,Elizabeth Echeverri González,Melissa Isaac Millán,Diana Ramírez Ossa OBJECTIVES: This work is intended to establish the prevalence of reverse smokers at the villages of Hato Nuevo, San Francisco and Cayo de Palma, Department of Sucre, Colombia, characterizing their socio-culture conditions, clinical and histological changes in the oral mucosa. DESIGN OF STUDY: A des... ( view more )criptive study was done through a home to home inquiry to select the people with inclusion criteria for a posterior clinical test and a biopsy of the affected oral mucosa. RESULTS AND CONCLUSIONS: Reverse smokers's prevalence was from the 15%, mainly women (p<0.001) with an age average of 59.3 years. The lesions were classified clinically in mild, moderate and severe changes. Tongue moderate lesions presented the higher frequency (80%), followed by severe lesions on palate (74%). Oral cancer prevalence was 10.8% in the San Francisco village and 18.2% in Cayo de Palma village, no new cases were reported in Hato Nuevo village. This was the highest prevalence reported in comparison with other studies with similar population. The clinical and histological findings agree with the reported in literature, no relation was found between the degree of clinical severity and the dysplasia itself. Cases of oral submucous fibrosis-like lesions were found, which had never been reported in Latin America. Further studies are required in order to decrease the morbidity for this habit and to identify other related risk factors. ( view less ) Fernando Palos,María E R García-Rendueles,David Araujo-Vilar,Maria Jesús Obregon,Rosa Maria Calvo,Jose Cameselle-Teijeiro,Susana B Bravo,Oscar Perez-Guerra,Lourdes Loidi,Barbara Czarnocka,Paula Alvarez,Samuel Refetoff,Lourdes Dominguez-Gerpe,Clara V Alvarez,Joaquin Lado-Abeal CONTEXT: We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and hypothyroxinemia but normal TSH and free T3 (FT3). In family B, some affected members showed deafness but not goiter. OBJECTIV... ( view more )E: Our objective was to identify the mutations causing PS and molecular mechanisms underlying the thyroid phenotypes. INTERVENTIONS: Interventions included extraction of DNA and of thyroid tissue. PATIENTS: Propositi and 10 members of the two families participated in the study. MAIN OUTCOME MEASURES: Main outcome measures included SLC26A4 gene analysis, deiodinase activities in thyroid tissue, and c.416-1G-->A effects on SLC26A4 splicing. In addition, a primary PS thyrocyte culture, T-PS2, was obtained from propositus B and compared with another culture of normal human thyrocytes, NT, by Western blotting, confocal microscopy, and iodine uptake kinetics. RESULTS: Proposita A was heterozygous for c.578C-->T and c.279delT, presented with goiter, and had normal TSH and FT3 but low FT4 attributable to high type 1 and type 2 iodothyronine deiodinase activities in the goiter. Propositus B bore c.279delT and a novel mutation c.416-1G-->A; some deaf relatives were homozygous for c.416-1G-->A but did not present goiter. The c.279delT mutation was associated with identical haplotype in the two families. T-PS2 showed truncated pendrin retained intracellularly and high iodine uptake with low efflux leading to iodine retention. CONCLUSIONS: c.279delT is a founder mutation in Galicia. Proposita A adapted to poor organification by increasing deiodinase activities in the goiter, avoiding hypothyroidism. Lack of goiter in subjects homozygous for c.416-1G-->A was due to incomplete penetrance allowing synthesis of some wild-type pendrin. Intracellular iodine retention, as seen in T-PS2, could play a role in thyroid alterations in PS. ( view less ) Teresa Tapia,Alejandro Sanchez,Maricarmen Vallejos,Carolina Alvarez,Mauricio Moraga,Susan Smalley,Mauricio Camus,Manuel Alvarez,Pilar Carvallo Besides BRCA1 and BRCA2, two genes accounting for a small proportion of breast cancer cases, ATM has been widely proposed as a low-penetrance susceptibility gene. Several nucleotide changes have been proposed to be associated with breast cancer, still remaining a high controversy in this sense. We ... ( view more )screened the ATM gene in 94 breast cancer patients selected from 78 high-risk families, not presenting a mutation in BRCA1 or BRCA2. We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. A positive association of c.5557G>A (p.D1853N) was found (OR 2.52, P = 0.008), when analyzed alone and in combination with an intronic variant IVS24-9delT (OR 3.97; P = 0.0003). We postulate that our discrepancies with other reports related to the associated ATM alleles to hereditary breast cancer, as well as discrepancies in the literature between other groups, could be explained by the diversity in the ethnic origins of families gathered in a sole study, and the selection of the control group. In relation to this issue, and based on genetic markers, we found that the Chilean group of breast cancer families in this study has a stronger European genetic component than our control sample selected randomly from the Chilean population. ( view less ) José A Alvarez Tamargo,Eugenio Simarro Martín-Ambrosio,Enrique Romero Tarín,María Martín Fernández,Sergio Hevia Nava,Vicente Barriales Alvarez,Cesar Morís de la Tassa BACKGROUND: There has been no clear consensus regarding the optimum definition of a high-risk exercise ECG test. The aim of this study is to compare the diagnostic accuracy of several treadmill scores [American College of Cardiology/American Heart Association (ACC/AHA) High-Risk Criteria for exerci... ( view more )se testing, Duke Treadmill Score, Veterans Affairs and West Virginia Prognostic Score, ST/Heart Rate Index] with the ST-segment depression analysis in the detection of significant and severe coronary disease as determined by coronary angiography. METHODS: The study included a cohort of 248 consecutive patients admitted to hospital for unstable angina. RESULTS: The sensitivities of the ACC/AHA High-Risk Criteria and the ST depression > or =1 mm were 89.02 and 76.83%, respectively, for the detection of significant coronary artery disease, and 96.15 and 86.54% for the detection of severe coronary artery disease. The specificities of the Duke Treadmill Score and the ST depression > or=1 mm were 96.43 and 73.81%, respectively, for the detection of significant coronary artery disease, and 81.63 and 47.45% for the detection of severe coronary artery disease. CONCLUSIONS: The ACC/AHA High-Risk Criteria and Duke Treadmill Score provided relevant diagnostic information not available from the ST segment analysis alone. ( view less )
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