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- Detection of subtelomeric rearrangements in 1180 patients: FISH and MLPA contributionPublication . Mota Freitas, Manuela; Ribeiro, Joana; Candeias, Cristina; Lopes, Elisa; Oliveira, Fernanda Paula; Aguiar, Joaquim; Ribeiro, Maria Céu; Pires, Sílvia; Oliva Teles, Natália; Correia, Hildeberto; Fonseca Silva, Maria LuzMental retardation (MR) is a major social, educational, and health problem affecting 3% of the population. Subtelomeric chromosome aberrations are one of the major causes of MR with or without multiple anomalies; previous studies have shown that these rearrangements are responsible for 3-6% of unexplained mental retardation. Between 2000-2010 in the Cytogenetics Unit, Centro de Genética Médica Jacinto de Magalhães, INSA (Portugal), the subtelomeric regions of all the chromosomes were analysed in 1180 individuals, whose karyotype had been considered normal. The reasons for referral included (i) psychomotor development delay or (ii) mental retardation with or without dysmorphisms. Until 2007 the analysis of metaphases, obtained from cultured lymphocytes following standard protocols, were performed by "Fluorescence in situ hybridization” (FISH): the first kit to be used was the Chromoprobe Multiprobe-TM (Cytocell) kit (until 2005), which was followed by the TotelVysion Multi-Color FISH Probe (Vysis). In 2007 the "Multiplex Ligation dependent Probe Amplification” (MLPA) was implemented in the laboratory, using kits P036 and P070 (MRC-Holland). All the unbalanced cases detected by MLPA were confirmed by FISH. Of a total of 1180 individuals, 62 (5.3%) showed chromosomal alterations: 60 in the subtelomeric regions and 2 in the control regions. It was not possible to perform any familial studies in 12 of the 62 cases (1.0%) and therefore the results were considered inconclusive. In the other 50 abnormal cases, the parental investigation allowed us to conclude that 30 (2.5%) of these patients had chromosomal abnormalities “de novo” that might be responsible for the clinical phenotype; the remaining 20 possibly abnormal cases (1.7%) were considered polymorphisms without pathological significance, since the apparent deletion or duplication had been inherited from phenotypically normal parents. The authors compare the results obtained in the individuals in the present study with literature reports and highlight the advantages/disadvantages of each technique.
- Cytogenetic analyses in a group of patients with myelodysplastic syndromesPublication . Ambrósio, Ana; Geraldes, Maria; Ventura, Catarina; Furtado, José; Correia, HildebertoMyelodysplastic syndromes (MDS) constitute a heterogeneous group of clonal disorders of haematopoietic stem cell diseases characterised by dysplasia and ineffective haematopoiesis in one or more of the major myeloid cell lines. This disease occurs predominantly in older adults where the median age at diagnosis is approximately 70 years. The aim of this study was to evaluate the data from cytogenetic analyses in 425 patients with myelodysplastic syndromes. This population was constituted by 212 females and 213 males; the median age at diagnosis is 66 years. Numerical and structural chromosomal abnormalities were documented for each patient and subdivided according to the number of additional abnormalities. From the 425 cytogenetic analyses, 97 (22.8%) were abnormal. The results for the abnormal population were as follows: 73.2% had only one anomaly, 9.3%had two anomalies, and 17.5%had a complex karyotype. In the abnormal population, the most frequent isolated anomaly observed was the trisomy 8 (17.5%), followed by the deletion of chromosome 5 (13.4%), the loss of chromosome Y (11.3%) and the deletion of chromosome 20 (8.2%). When associating these anomalies with complex karyotypes, the most frequent anomaly observed was the deletion of chromosome 5 (24.7%). Overall, these results are different fromthose in the literature; however, the deletion of chromosome 5 is still the most recurrent anomaly in this syndrome.We can also conclude that the loss of chromosomeYis not always associated with age, but is one of the anomalies that characterize this group of pathologies. All these anomalies were found by cytogenetic analysis, a low-cost technique that allows clinicians to use this important prognostic tool to evaluate and make a more accurate clinical decision for patients with MDS.
- Influence of maternal and infant variables on school age children within the Project Obesity ZeroPublication . Jardim, Carla; Carvalho, Maria Ana; Vasconcelos, Marta; Castro, Susana; Rito, Ana IsabelIntroduction: Obesity is considered by World Health Organization as a serious public health concern. The maternal and infant variables are essential to a successful intervention on the prevention of childhood obesity. Objective: Evaluate the influence of maternal and infant variables on nutritional status of children in a community-based intervention program known as Project Obesity Zero (POZ). Methods: POZ is a quasi-experimental, multicentric study developed in 2009 in five municipalities of Portugal (Beja, Cascais, Mealhada, Melgaço and Silves) articulated with Healthcare Centres and local governments. The program offered, to children and their families, a four stages intervention: 1) Sessions of Individual Nutrition Counselling, 2) Healthy Cooking Workshop, 3) Children’s Group Sessions and 4) Parents/families Group Counselling. The criteria used to define nutritional status of children were the CDC Growth charts (2000). This criteria was adopted by the Portuguese Ministry of Health. The information about maternal-infant variables was collected from the Questionnaire about food habits, food behaviours and nutrition knowledge directed to parents. Descriptive analyses were evaluated. Differences between groups were tested using chi-square test. Crude odds ratio (OR) with 95% CI were calculated by univariate analysis and adjusted OR were calculated by multivariate logistic regression analysis. A P-value<0,05 level was considered statistically significant. Results: From the 293 children evaluated, 52% were female and 48% were male; 9,2% had normal weight, 37,9% were overweight and 52,9% were obese. 80,4% of the children decreased their BMI percentile and Mealhada was the municipality with the greater reduction (92,0%) (p<0,01). The greater reduction of BMI percentile was found in children who were breastfed (81,6%), in children who began the food diversification between 4 and 6 months of age (84,6%) and children that have introduced soup in first place in food diversification (90,6%) (p <0.05). Conclusion: This study adds evidence to the eficacy of community-based projects on the prevention of childhood obesity, enphatizing the importance of the matenal-infant variables in these interventions.
- Interactive effects of aflatoxin M1 and ochratoxin A in a human intestinal cell line: evaluation of cyto- and genotoxicityPublication . Tavares, Ana; Louro, Henriqueta; Alvito, Paula; Silva, Maria JoãoAflatoxins (AF) and ochratoxin A (OTA) are frequent contaminants of foodstuff and low doses of these mycotoxins have been shown to co-occur in baby foods. Our objective was to investigate whether a combined intake of AFM1 and OTA could alter the cytotoxic and genotoxic effects of the single mycotoxins. These effects were assessed by the Neutral Red and the Comet assays, following exposure of Caco-2 cells to individual and combined doses of the two mycotoxins. A dose-dependent cytotoxic response was observed for OTA, whereas AFM1 was cytotoxic only at the highest dose (10BM). Among the several combinations of OTA (2.5, 5 and 10BM) and AFM1 (0.5, 1, 2.5, 5 and 10BM) tested for cytotoxicity, some displayed interactive effects. Noteworthy, combination of 2.5 BM of OTA and 0.5 BM of AFM1, significantly increased the cytotoxicity, as compared to each toxin taken alone, suggesting a synergistic effect. Preliminary data from the comet assay did not show significant induction of DNA damage, neither for single mycotoxins nor for their mixtures. In conclusion, our data suggest the existence of interactive cytotoxic effects between OTA and AFM1. The possible synergism observed between the lowest concentrations of both mycotoxins, which are closer to the realistic doses of human exposure, might be particularly relevant for children, who are more vulnerable to toxic effects.
- Demographic variables and childhood obesity community-based programme in PortugalPublication . Baptista, Patrícia; Silva, Ana Lúcia; Ramos, Carlos; Carvalho, Maria Ana; Rito, AnaBACKGROUND: It is well known that obesity is one of the most Public Health’s concerns especially among children. Recent data reports that childhood obesity in Portugal increased in the last years, representing nowadays 32.1% of overweight and 14.5% of obesity (1). Family, as the primary children source of social learning, habits and behaviors’ influence and exposure have shown a basic determinant to food and physical activity children’ choices (2,3,4). The role of family and parental factors in childhood obesity suggests that single-parent, no siblings and small family size are associated with larger increases in BMI (2,3,5,6). Family provides social and interpersonal support that is instrumental in shaping and maintaining eating and physical activity behaviors, community-based health programmes focus also on family educational policies and strategies have been developed in some European Countries, showing relevant impact on health patterns and a decrease on childhood obesity prevalence’s (7,8). METHODS: This study is framed from a longitudinal municipal project (MUNSI), which included 3173 children (6-9 years old) from 167 public schools conducted on five municipalities (Viana do Castelo, Fundão, Oeiras, Seixal and Montijo). Childhood nutritional status was assessed by anthropometric parameters (weight and height) considering the CDC growthcharts criteria percentiles of BMI. Children’s food habits, socioeconomic condition and parent’s level education were collected by a family questionnaire. The Odds Ratio was calculated with a 95% Confidence Intervals. RESULTS: Prevalence of childhood overweight (BMI≥P85) was 32.1%, and 14.3% for obesity (BMI≥P95). According to family characteristics the data showed that a small family size is associated with larger increases in BMI (OR=1.6; 95%CI: 1.1-2.3). It was also observed that having a lower level of education, a lower socioprofessional status and a household income of less than €1500 were risk factors statistically significant (p <0.05) for the development of childhood obesity, with an inversely association with the prevalence of childhood obesity. CONCLUSION: The data have shown that obesity was not independent from parent's socioeconomic and educative level, where these two conditions seem to be more likely to develop childhood Overweight. This knowledge identifies additional childhood obesity causes that could be useful as effective interventions at local level in order to reverse the obesity trends in Portuguese children and promote a future healthy life style.
- Loss of the Y chromosome in male patients with haematological disordersPublication . Geraldes, Maria; Ambrósio, Ana; Almeida, Rita; Furtado, José; Correia, HildebertoThe clinical association between loss of the Y (L0Y) chromosome and haematological disorders has been continuously debated because both phenomena can be age-related. In order to understand the relationship between the L0Y chromosome and the different haematological diseases, we retrospectively analysed cytogenetic results of 1,241 male patients from 1995 to 2010. Seventyeight patients (6.3%) showed L0Y. Of the 78 patients without Y chromosome, 15 (19.2%) had B cell lymphomas (B lymphomas), 12 (15.4%) had myelodysplastic syndromes (MDS), 10 (12.8%) had chronic myelogeneous leukaemia (CML), 10 (12.8%) had acute myeloid leukaemia (AML), 8 (10.3%) had myeloproliferative neoplasms (MN), 6 (7.7%) had chronic lymphocytic leukaemia (CLL), 5 (6.4%) had multiple myeloma (MM), 5 (6.4%) had other mature B cell neoplasms (BN), 3 (3.8%) had MDS/MN, 3 (3.8%) had other mature T cell neoplasms (TN), and 1 (1.3%) had acute lymphoblastic leukaemia (ALL). We did not observe the L0Y chromosome in the 15 patients (1.2% of all patients studied) with Hodgkin’s disease. These percentages can be different if we consider only the pathology in which the L0Y was found: 4.1% of all patients with MN, 5.7% of all patients with MDS, 9.3% in the patients with AML, 12.5% in patients with ALL, 5.8% in patients with CLL, 5.8% in B lymphoma patients, 8.2% in the CML patients, 4.5% in MM patients, 9.1% in BN patients, 9.1% in MDS/MN patients and 15.8% in TN patients. Twenty-five patients (32.1%) had the L0Y associated with other cytogenetic anomalies. There are few reports of L0Y associated with haematological disorders since this has been considered mainly an age-related event. Therefore, the tendency of L0Y diseases to be associated that seems apparent in our data indicates that careful consideration should be taken when evaluating male patients with L0Y.
- Estimativa de IncertezasPublication . Cano, M.
- Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohortPublication . Gouveia, Liliana O.; Sobral, João; Vicente, A.M.; Ferro, José M.; Oliveira, Sofia A.OBJECTIVES: Replication of GWAS association findings remains the gold standard for results validation. Our aim was to test the association of four polymorphisms (rs1671021 in LLGL2, rs753307 in RUVBL2, rs6007897 and rs4044210 in CELSR1) previously identified as ischemic stroke (IS) risk factors in a phased GWAS performed on 6341 Japanese individuals [1]. METHODS: These polymorphisms were genotyped in a Portuguese sample of 566 IS cases and 525 controls, and their allele, genotype and haplotype associations were assessed. RESULTS: rs6007897 and rs4044210 in CELSR1 were associated with stroke risk individually (OR[95%CI]=1.43[1.13-1.81], p=0.003 and 1.38[1.09-1.74], p=0.007, respectively), and in combination as a haplotype. These associations remain after correction for multiple testing and in a meta-analysis with the original findings. The other polymorphisms were not associated. CONCLUSIONS: Our study independently confirmed for the first time the association between IS and CELSR1. This finding and the mechanisms by which these genetic variants exert their effects on stroke pathogenesis warrant further replication and investigation
- Project Obesity Zero – a successfully community based programme in PortugalPublication . Carvalho, Maria Ana; Ramos, Carlos; Breda, João; Rito, Ana IsabelIntroduction: Childhood Obesity represents one of the most serious public health challenges, as it reached epidemic levels in several countries around the world. The prevention and treatment of this disease should be a top priority. The interventions used within childhood obesity approach should be community and family based and should essentially lie upon behaviour modification regarding diet and physical activity. The main purpose of the Project Obesity Zero (POZ) is to tackle childhood obesity at municipality level trough a set of activities (Healthy cooking programme and a nutritional guidance programme) targeted at low income families with overweight children. Methods: A Quasi-experimental multicentric study, developed in 2009 in five portuguese municipalities from the five regions of Portugal: Melgaço - North, Mealhada- Centre, Cascais - Great Lisbon, Beja – Alentejo and Silves- Algarve articulated with Healthcare centres and local governments. The program offered, to children and their families, a four stages intervention: a) 4 sessions of Individual Nutrition Counselling, b) a Healthy Cooking workshop, c) 2 children’s group sessions (nutrition and physical activity) and d) a Parents/families Group counselling. Outcomes of nutritional status were assessed at baseline and at 6 months after. Results: Of the 293 children participants in the intervention (47,5% boys and 52,9% girls; mean age 8,6 years; mean percentile 93,6), 220 (75%) have completed the program. Mean percentile decreased by 2,369 (P< 0,05). Conclusions: These data suggest that interventions at local level can have significant effects on childhood overweight prevalence. This knowledge may identify additional potential effective interventions in order to reverse the obesity trends in Portuguese children, one of the highest in Europe.
- Project Obesity Zero – Influence of sleep duration, physical activity and sedentary behaviours on school age childrenPublication . Vasconcelos, Marta; Carvalho, Maria Ana; Jardim, Carla; Castro, Susana; Rito, Ana IsabelIntroduction: Childhood obesity is considered by World Health Organization a serious public health concern. Sedentary behaviours, low levels of physical activity and changes in sleep patterns are associated with childhood obesity. The aim of this study is to evaluate the association between sleep duration, physical activity and sedentary behaviours on the nutritional status of school age children that have participated in Project Obesity Zero (POZ). Methods: POZ is a quasi-experimental, multicentric study, developed in 2009 in 5 municipalities of Portugal (Beja, Cascais, Mealhada, Melgaço and Silves) articulated with Healthcare Centres and local governments. The programme offered, to children and their families, a four stages intervention: 1) Sessions of Individual Nutrition Counselling, 2) Healthy Cooking Workshop, 3) Children’s Group Sessions and 4) Parents/families Group Counselling. The criteria used to define nutritional status of children were the CDC Growth charts (2000). This criteria was adopted by the Portuguese Ministry of Health. The information about sleep duration, physical activity and sedentary behaviours was collected from the Questionnaire about food habits, food behaviours and nutrition knowledge directed to families. Descriptive analyses were evaluated. Differences between groups were tested using chi-square test. The mean value between two dependent samples was calculated using t-test. A P-value<0,05 level was considered statistically significant. Results: From the 293 children evaluated, 152 were female (52%) and 141 (48%) were male; 9,2% had normal weight, 37,9% were overweight and 52,9% were obese. 80,4% of the children decreased their BMI percentile and Mealhada was the municipality with the greater reduction (92,0%). 95,8% of the children engaged in more than 3 days per week in a sports club reduced their BMI percentile. 83,1% of the children who slept ten hours or more per day during the weekend decreased their BMI percentile. There was an improvement in sedentary behaviors during the weekdays with a greater proportion of children spending less than two hours a day using the televison and/or the computer (64,2% in the 1st individual counselling session to 96,4% in the 4th individual counselling session). Conclusion: This study adds evidence to the eficacy of community-based projects on the prevention of childhood obesity, enphatizing the importance of the sleep duration since it’s associated with a reduction in children’s BMI percentile.