Knowledge about hereditary cancer of women with family histories of breast, colorectal, or both types of cancer.

Usually, the mass media do not address hereditary cancer and their risk factors, nor are these topics discussed at the community level. We used an informative guide on cancer and hereditary cancer, followed by a questionnaire on these topics to investigate the relevant knowledge among women at high risk for hereditary breast and/or colorectal cancer from a population-based cohort. The cohort was composed of 81 Brazilian women with positive family histories of breast and/or colorectal cancer. Strauss and Corbin's Grounded Theory was used for qualitative analysis. The average age of the cohort was 49.9 years old. Three participants (3.9%) were illiterate, 45 (59.2%) had attended elementary school, 14 (18.4%) had secondary school, and 14 (18.4%) held higher education degrees. A total of 47 (54.3%) volunteers were unable to fully understand the information provided in the guide because they did not know the meaning of words such as metastasis, malignant, hereditary, sporadic, or oncogenetics. Notwithstanding, the acceptance of the educational tool utilized was satisfactory, and it enhanced the volunteers' interest in a better understanding of cancer and heredity. Thereby, we concluded that the low knowledge of this important subject and the unawareness about fundamental terms required for the comprehension of this specific type of neoplasm made us believe that the use of the informative guide can provide a great value when used previously to the genetic counseling consultations. Besides, educational tools of easy understanding should be part of everyday clinical practice, from primary to specialized patient care.

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women

Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥ 12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.

[Art therapy for hospitalised congenital heart disease patients: a method of psychological intervention at the IRCCS Policlinico San Donato Milanese Hospital]. / L'arteterapia per i pazienti con cardiopatia congenita: metodologia di intervento psicologico presso il Reparto di cardiologia, cardiochirurgia pediatrica e cardiopatie conge- nite dell'adulto, IRCCS Policlinico San Donato.

The current work is the presentation of a new project at the IRCSS San Donato Milanese University hospital, in the sphere of Psychocardiology. Hospitalised children and adolescents often face psychosocial difficulties and the psychological condition of their parents frequently has an impact on their wellbeing. A strong need to take care, beyond the mere cure, is necessary in the hospital settings - that is a need to pay attention also to psychological aspects apart from the medical ones. Art therapy could be an answer for this need: the literature has outlined its efficacy in hospital, also due to the higher inclination of children and adolescents toward creativity. By providing and analysing the drawings of 10 young patients with congenital heart disease (CHD), this study outlines how the art therapy program gives these patients the opportunity to freely and directly express fears and anxieties about medical procedures and their disease. Moreover, through the creation of a tangible product, psychologists can better evaluate the psychological troubles of young patients and provide them and their parents with more focused and personalized support. This study also focuses on the perception of the utility that parents have of this new therapeutic intervention, offered at the Department of Paediatric Cardiac Surgery, confirming that art therapy is perceived as being effective and is definitely a good instrument in helping to "take care" of children and adolescents suffering from CHD.

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density

Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6 percent, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.

Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density.

Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6%, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

BACKGROUND: Li-Fraumeni and Li-Fraumeni-like syndromes (LFS/LFL), characterised by the development of multiple early onset cancers with heterogeneous tumour patterns, are associated with germline TP53 mutations. Polymorphisms in the TP53 pathway (TP53 PEX4 at codon 72, rs1042522; MDM2 SNP309, rs2279744) have modifier effects on germline TP53 mutations that may account for the individual and familial diversity of tumour patterns. METHODS AND RESULTS: Four polymorphisms were analysed in a series of 135 Brazilian LFS/LFL cancer patients (32 TP53 mutation carriers and 103 wild-type subjects). We report for the first time that another polymorphism in the TP53 gene, TP53 PIN3 (rs17878362), has a strong modifier effect on germline TP53 mutations. This polymorphism, which consists of a 16 bp duplication in intron 3 (A1, non-duplicated allele; A2, duplicated allele), is associated with a difference of 19.0 years in the mean age at the first diagnosis in TP53 mutation carriers (n = 25, A1A1: 28.0 years; n = 7, A1A2: 47.0 years; p = 0.01). In addition, cancer occurrence before the age of 35 years is exclusively observed in A1A1 homozygotes. In this series, the effect of TP53 PEX4 and MDM2 SNP309 on age at diagnosis was similar to the one reported in other series and was smaller than the one of TP53 PIN3 (TP53 PIN3: difference of 19.0 years; TP53 PEX4: 8.3 years; MDM2 SNP309: 12.5 years). CONCLUSION: These results suggest that TP53 PIN3 is another polymorphism in the TP53 pathway that may have a modifier effect on germline TP53 mutations and may contribute to the phenotypic diversity of germline TP53 mutations associated with LFS/LFL patients.

[Subthalamic nucleus targeting and spatial variability]. / Localización bilateral y simetría del núcleo subtalámico.

AIM: The effectiveness of anatomic localization of the subthalamic nucleus (EAL) was assessed and the mapping method is described here. The symmetry of contralateral nuclei (SCN) was analyzed on 11 parkinsonian patients submitted to bilateral subthalamotomy with ablative lesioning. PATIENTS AND METHODS: To assess EAL the percentage so much of first trajectory (p1) as the total of trajectories (pt) that hit the target and the rest of subthalamic nucleus average distance (d) was calculated. The anatomic localization error (epsilon) is determined as a difference between first trajectory coordinates with those of medial determined nucleus point, through electrophysiological data as to the statistical significance of this error. SCN is analyzed by contrasting equality hypothesis at the nucleus maximum height alongside a trajectory, average electrophysiological position center and spatial distribution of all intranuclear recordings found in each hemisphere in all patients. RESULTS: The pi, pt and d obtained values were 86.36%, 86.13% and 1.41 +/- 1.01 mm respectively. The epsilon value was greater in anteroposterior direction of 1.11 +/- 0.83 mm without statistical significance. The average number of recorded trajectories for the first procedure was 6.45 and 6 for the second. The asymmetry of contralateral nucleus was not significant. CONCLUSIONS: An indirect method with CT brain images and a new electrophysiological mapping method with a multiunitary recording for first and second nucleus is safe enough and it yields a high effectiveness in anatomofunctional nucleus localization. The nucleus of a same patient are symmetrical. There is little space variability among patient non related to the differences in the intercommissural distance.

Localización bilateral y simetría del núcleo subtalámico / subthalamic nucleus targeting and spatial variability

Objetivos. Se evalúa la efectividad de localización anatómica (ELAN) bilateral del núcleo subtalámico (NST), se describe el método de cartografiado electrofisiológico y se analiza la simetría de los núcleos contralaterales (SC) en 11 pacientes con enfermedad de Parkinson, sometidos a subtalamotomía bilateral. Pacientes y métodos. Para evaluar la ELAN se calcula el porcentaje tanto de los primeros trayectos (p1) como del total de trayectos (pt) que hicieron blanco, así como la distancia promedio (d) del resto al NST. Se define el error de localización anatómica ( Epsilon ) como la diferencia entre las coordenadas del primer trayecto y las del punto medio del núcleo, determinado por la información electrofisiológica, así como la significación estadística de este error. La SC se analiza con el contraste de la hipótesis de igualdad en la máxima altura del núcleo a lo largo de un trayecto, la posición promedio del centro electrofisiológico y la distribución espacial de todos los registros intranucleares en todos los pacientes encontrado en cada hemisferio. Resultados. Los valores de p1, pt y d obtenidos fueron 86,36 por ciento, 86,13 por ciento y 1,41 ñ 1,01 mm, respectivamente. El valor de fue mayor en la dirección anteroposterior (1,11 ñ 0,83 mm), aunque sin significación estadística (test ANOVA de Kruskal Wallis para la mediana y test de Wilcoxon para muestras apareadas; p = 0,05). El número promedio de trayectos de registros para el primer proceder fue 6,45, y para el segundo, 6. La asimetría de los núcleos contralaterales no fue significativa (test ANOVA de Kruskal Wallis para la mediana y test de Wilcoxon para muestras apareadas; p = 0,05). Conclusiones. Un método indirecto con imágenes de TAC y un novedoso método de cartografiado electrofisiológico con registro multiunitario, para el primer y el segundo núcleo, son seguros y brindan una alta efectividad en la localización anatomofuncional del núcleo. Los núcleos de un mismo paciente son simétricos. Se observó poca variabilidad espacial entre pacientes, no relacionada con las diferencias en la distancia intercomisural (AU)

Aim. The effectiveness of anatomic localization of the subthalamic nucleus (EAL) was assessed and the mapping method is described here. The symmetry of contralateral nuclei (SCN) was analyzed on 11 parkinsonian patients submitted to bilateral subthalamotomy with ablative lesioning. Patients and methods. To assess EAL the percentage so much of first trajectory (p1) as the total of trajectories (pt) that hit the target and the rest of subthalamic nucleus average distance (d) was calculated. The anatomic localization error (ε) is determined as a difference between first trajectory coordinates with those of medial determined nucleus point, through electrophysiological data as to the statistical significance of this error. SCN is analyzed by contrasting equality hypothesis at the nucleus maximum height alongside a trajectory, average electrophysiological position center and spatial distribution of all intranuclear recordings found in each hemisphere in all patients. Results. The pi, pt and d obtained values were 86.36%, 86.13% and 1.41±1.01 mm respectively. The ε value was greater in anteroposterior direction of 1.11±0.83mm without statistical significance. The average number of recorded trajectories for the first procedure was 6.45 and 6 for the second. The asymmetry of contralateral nucleus was not significant. Conclusions. An indirect method with CT brain images and a new electrophysiological mapping method with a multiunitary recording for first and second nucleus is safe enough and it yields a high effectiveness in anatomofunctional nucleus localization. The nucleus of a same patient are symmetrical. There is little space variability among patient non related to the differences in the intercomisural distance (AU)

Respiratory status of preterm infants with hyaline membrane disease

This project examined the growth and respiratory status of 80 infants, 60 prematures and 20 term. Based on their birth histories, they were divided into four groups: 1) mechanically ventilated prematures with HMD, 2) prematures with HMD but no mechanical ventilation, 3) prematures with no problems, and 4) term babies without problems. The data gathered from these infants regarding respiratory infections and growth suggest that prematurity, HMDm and mechanical ventilation do not influence the respiratory outcome of neonates nor do they influence the eventual growth of these infants during the first year of life. The data also suggest that despite the poor environment conditions that accompany low economic status, this does not affect the respiratory status of these infants. Two cases of bronchopulmonary dysplasia were isolated from this study group, both belonging to the first group of prematures, and these two infants had more respiratory infections during their first year and had a delay in growth. (Auth)

Partial hepatectomy and/or surgical stress provoke changes in the expression of lipoprotein lipase and actin in liver and extrahepatic tissues.

The expression of lipoprotein lipase (LPL) and actin genes was examined in heart, muscle and white adipose tissue (WAT) and the expression of albumin and actin genes was examined in regenerating liver after 2/3 hepatectomy. Both surgical stress and partial hepatectomy (PH) affected LPL and actin mRNA levels in muscle and WAT, but not in heart. The changes in LPL mRNA suggest transcriptional regulation of the enzyme during hepatic regeneration. Our results show for the first time that the LPL gene expression in the different tissues studied is altered not only by the surgical stress, but also by PH per se. Actin expression is also affected in some tissues. In liver, PH and surgical stress altered the expression of albumin and total mRNA. The total mRNA of the other tissues studied did not change. The changes observed in LPL in different tissues, especially in WAT and muscle, may be responsible for some of the changes in lipidic metabolism, thus allowing for some plasma lipoproteins to be used as substrates by the LPL activity that arises in the liver during hepatic regeneration. The fatty acids derived from these lipoproteins would constitute not only an energy source but also the building material needed in the process of restoration of the lost hepatic mass. It is suggested that hormonal changes taking place after surgery are responsible for the variation in the levels of the different mRNAs studied.

Mutations affecting gluconate catabolism in Escherichia coli. Genetic mapping of the locus for the thermosensitive gluconokinase.

An Escherichia coli strain unable to use gluconate was isolated by spontaneous curing of lambda cI857 s7 xis6 b515 b519, lambda cI857 s7 delta(A-att) dargI valS lysogens. Two lesions, linked to asd and pyrB markers, respectively, were necessary to produce this phenotype. The asd-linked mutation gnt-17, of regulatory type, seems to affect the expression of the major system of gluconate utilization (min 75) as well as that of 6-phosphogluconate dehydratase (gene edd, min 41), the first enzyme of the Entner-Doudoroff pathway. A closely linked suppressor of gnt-17 causes constitutivity of these activities; this suppressor resembles gntR, which is also in the asd region. Hence, it is possible that gnt-17 is a super-repressing allele of gntR, rather than a positive controlling element. Lesion gnt-17 alone does not prevent the utilization of gluconate; for this, the mutation gnt-18 at 96.9 min is also necessary. This mutation abolishes the thermosensitive gluconokinase activity and thus eliminates the subsidiary ability to catabolize gluconate. Accordingly, gnt-18 seems to be allelic with gntV, the locus postulated as being in the pyrB region specifying the thermosensitive gluconokinase.

Síndrome bradicardia-taquicardia en la cardiopatía chagásica crónica / Bradycardia-tachycardia syndrome in chronic Chagas' cardiopathy

Se presentan 6 chagasicos con sindrome bradicardia-taquicardia, todos ellos tuvieran sintomas tales como lipotimias, palpitaciones y sincope: hubo bradicardia sinusal en 5 pacientes, paro sinusal en 4, bloqueio sinoauricular en 1, taquicardia auricular en 3, flutter auricular en 3 y fibrilacion auricular en 3. Se determino el tiempo de conduccion sinouricular en 4 enfermos, siendo anormal en todos ellos; tambien se determino el tiempo de recuperacion del nodo sinusal y su correccion en 5 pacientes, obteniendose resultados anormales en todos; se produjo fenomeno de Wenckebach en 2 de ellos. Despues del uso de atropina, aun persistio anormal el tiempo de recuperacion del nodo sinusal en 4 pacientes, hubo respuesta paradojica en un caso; el fenomeno de Wenckebach persistio en un caso y desaparecio en otro; el incremento de la frecuencia cardiaca fue anormal en 3 pacientes. En 4 enfermos se implanto marcapaso programable, anadiendo amiodarona en 2 de ellos. El sindrome bradicardia-taquicardia en la cardiopatia chagasica cronica estaria explicada por los hallazgos histologicos tales como la fibrosis del nodo sinusal y regiones auriculares circunvencinas