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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exception of the Iberian peninsula, and is known to respond to vitamin B6. On the other hand, mutation p.T191M is prevalent in Spain and Portugal and does not respond to B6. We analysed 30 pedigrees from Spain, Portugal, Colombia and Argentina, segregating for homocystinuria. The p.T191M mutation was detected in patients from all four countries and was particularly prevalent in Colombia. The number of p.T191M alleles described in this study, together with those previously published, is 71. The prevalence of p.T191M among CBS mutant alleles in the different countries was: 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina and 0.14 in Brazil. Haplotype analyses suggested a double origin for this mutation. No genotype-phenotype correlation other than the B6-nonresponsiveness could be established for the p.T191M mutation. Additionally, three new mutations, p.M173V, p.I429del and c.69_70+8del10, were found. The p.M173V was associated with a mild, B6-responsive, phenotype.

Alleles↗

Bronchiolitis caused by respiratory syncytial virus in an area of portugal: epidemiology, clinical features, and risk factors.

The aim of the present study was to analyse the clinical and epidemiological characteristics of bronchiolitis caused by respiratory syncytial virus (RSV) in 225 children observed in a paediatric hospital in Lisbon, Portugal, and to determine the clinical, epidemiological, or laboratory parameters that correlate with greater severity of the disease. This prospective study included hospitalised and ambulatory children younger than 36 months of age with a diagnosis of bronchiolitis and was conducted during two consecutive RSV epidemiological seasons (November-March 2000/01 and 2001/02). The median age of the patients was 5 months, and the male-to-female ratio was 1.6:1. RSV was isolated in 60.9% of patients, predominantly in the hospitalised group. The subtype A:B ratio was 7.4:1 and was similar in both seasons. RSV-positive patients were younger, had more severe clinical forms of bronchiolitis, and fewer changes in leucocyte total and differential counts. Among infected patients, higher clinical severity scores occurred in association with first wheezing episodes, overcrowded households, attendance at day-care centres, or prematurity (<36 weeks). This first prospective study of RSV epidemiology in Portugal provides a foundation for appropriate surveillance programmes of RSV infection in this country. A multicentre study is desirable in order to delineate optimal prophylactic and therapeutic guidelines for RSV infection in Portugal.

Age Distribution↗

The distribution of ticks (Acari: Ixodidae) of domestic livestock in Portugal.

This paper introduces the first countrywide faunistic study of the tick parasites on ruminants in Portugal. The aim of this study was to map accurately the distribution of the ticks Dermacentor marginatus, Rhipicephalus (Boophilus) annulatus, R. bursa, Hyalomma m. marginatum, H. lusitanicum and Ixodes ricinus in Portugal. Additional information about the abiotic preferences of these species has been obtained through the use of abiotic (temperature- and vegetation-derived) variables have been recorded from remotely sensed information at a nominal resolution of 1.1 km(2). A further aim was the development of predictive models of distribution using Classification and Regression Trees (CART) methodologies. Four species (R. annulatus, R. bursa, D. marginatus and H. m. marginatum) are mostly restricted to south-eastern parts of the country, under hot and dry climate conditions of Mediterranean type. H. lusitanicum has been collected almost only in the southern half of Portugal. I. ricinus has a very patchy distribution and is mainly associated with vegetation of Quercus spp., found in southern zones of the country, but it is present also in the more humid western part. A variable number of abiotic variables, mainly temperature derived, are able to describe the preferences of the tick species. It is remarkable that variables derived from maximum values of the Normalized Derived Vegetation Index (yearly or summer-derived) only apply to discriminate areas where I. ricinus has been collected. CART models are able to map the distribution of these ticks with accuracy ranging within 75.3 and 96.4% of actual positive sites.

Animals↗

Prevalence of self-medication in rural areas of Portugal.

OBJECTIVES: To study the prevalence of self-medication among pharmacy customers in rural areas of Portugal, to assess possible predictors of self-medication and to find out whether there was a seasonal dependence in the purchase of drugs for self-medication. METHOD: A cross-sectional study during four different periods of a year was conducted. Community pharmacies of rural areas of Portugal were invited to participate and pharmacists were asked to recruit one person every hour during the opening hours and administer a questionnaire. Drugs dispensed were classified according to the Anatomical Therapeutic Chemical Classification system up to the second level. MAIN OUTCOME MEASURE: Prevalence of self-medication is defined as the percentage of patients acquiring a medicine that was not prescribed (written) or recommended (orally) by a physician. RESULTS: The prevalence of self-medication was 21.5%. Main therapeutic groups acquired for self-medication were "other alimentary tract and metabolism products" (A16; proportion acquired for self-medication= 75.0%), "throat preparations" (R02; 74.7%), "antiemetics and antinauseants" (A04; 70.0%), "cough and cold preparations" (R05; 56.5%), and "nasal preparations" (R01; 50.0%). Variables found to be predictors of self-medication were age, type of health professional or person consulted when a mild health problem occurred, time elapsed since last visit to the physician and time waited between setting an appointment and the actual visit. Seasonality seemed to occur for only "cough and cold preparations", for "dermatologicals" and for "anti-inflammatory and anti-rheumatic products". CONCLUSION: In rural Portugal about one fifth of the pharmacy customers engaged in self-medication. However, further research should be made to address appropriateness of self-medication.

Adult↗

Malaria eradication in Portugal.

Research on malaria, which was endemic in several parts of Portugal at the beginning of this century, was intensified in the 1940's and led to the development of better control methods, especially in the rice-growing areas of the country. In the 1950's residual DDT spraying was introduced and followed by extensive detection of cases of malaria and their treatment. Plans for eradication of the disease were made, and by 1958 the transmission of the infection was interrupted in nearly all areas of European Portugal. The country was placed in the maintenance phase of malaria eradication and the certification of malaria eradication was confirmed by the WHO in 1973. The political and military events of the past five years greatly increased the number of cases of malaria imported into Portugal from tropical Africa and indicated the need for much vigilance to prevent the resumption of transmission by the local vectors. It appears that the measures put into action have succeeded in this respect. This was due to the high degree of effective surveillance and also to the fact that Anopheles atroparvus does not readily transmit the exotic strains of Plasmodium falciparum and P. vivax. However, further vigilance must be maintained and intensified.

Anopheles↗

The occurrence of polybrominated diphenyl ethers in river and coastal biota from Portugal.

Throughout this work PBDEs level determination in biota was developed for the first time in Portugal. The data obtained was important to provide a global perspective of Portugal contamination by PBDEs and allows the comparison with studies made in other countries. Environmental levels of fourteen polybrominated diphenyl ethers (PBDEs) were analysed in a number of biota samples (Barbus sp. and Mytilus galloprovincialis) taken over a large geographic range covering five rivers and coastal areas of Portugal. Tetrabromodiphenyl ether (BDE 47) was found in almost all samples ranging from not detected (nd) to 30ngg(-1) dry weight (dw). BDE 47 concentration is correlated with mussels weight indicating the bioaccumulation of this compound. Pentabromodiphenyl ethers (BDE 99 and BDE 100) were detected in several samples, but in lower concentrations.

Animals↗

Pesticide intoxications in the Centre of Portugal: three years analysis.

Pesticides are used in most countries around the world to protect agricultural and horticultural crops against damage. Poisoning by these toxicant agents occurs as a result of misuse or accidental exposure, and also by oral ingestion (voluntary or not). In Portugal, pesticide intoxications are still a cause of death, found in a considerable number of cases. The authors retrospectively examined the cases of pesticide poisoning in the Centre of Portugal, from autopsies performed in the Forensic Pathology Service of Coimbra's Delegation of the National Institute of Legal Medicine (NILM) and from other autopsies carried out in the Centre of Portugal, as well as some samples taken in hospitals in cases of suspected intoxication. In this study, the positive cases have been especially studied, in order to identify the pesticide used, as well as the etiology. The frequency of intoxications and its distribution by sex and age were also analyzed. Between January 2000 and December 2002, the Forensic Toxicology Laboratory received 639 pesticide analysis requests. In 2000, in a total of 149 analysis requests, 30 cases were positive, 63.3% from male individuals and 36.7% from female. In 2001, the analysis requests increased to 240 as well as the positive cases (43), 74.4% from male individuals and 25.6% from female and in 2002, the total cases analyzed also increased to 250, with 38 positive (73.6% from male individuals and 26.4% from female). Among the pesticides, organophosphorus insecticides still constitute the most important class detected in forensic intoxications, representing 63% of the total positive cases, followed by herbicides, with 33% of the positive results. Quinalphos is the most important organophosphorus insecticide, present in 32 of the 111 positive cases, followed by the herbicide paraquat, detected in 31 cases. The study emphasizes the increasing number of pesticide analyses, particularly relevant for the organophosphorus compounds and herbicides. Intoxication suspicion, accidental or voluntary, seems to be the most common cause of the incidents, for which analyses are requested, but it is also evident that the putative cause is unknown in a large number of cases. Therefore, more stringent legislation and enforcement regarding the sale and distribution of these toxic substances are needed.

Adult↗

HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins.

Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 polymorphisms were examined in Madeira Island populations. The data was obtained at high-resolution level, using sequence-based typing (SBT). The most frequent alleles at each loci were: A*020101 (24.6%), B*5101 (9.7%), B*440201 (9.2%), and DRB1*070101 (15.7%). The predominant three-loci haplotypes in Madeira were A*020101-B*510101-DRB1*130101 (2.7%) and A*010101-B*0801-DRB1*030101 (2.4%), previously found in north and central Portugal. The present study corroborates historical sources and other genetic studies that say Madeira were populated not only by Europeans, mostly Portuguese, but also sub-Saharan Africans due to slave trade. Comparison with other populations shows that Madeira experienced a stronger African influence due to slave trade than Portugal mainland and even the Azores archipelago. Despite this African genetic input, haplotype and allele frequencies were predominantly from European origin, mostly common to mainland Portugal.

Gene Frequency↗

Municipal solid waste disposal in Portugal.

In recent years municipal solid waste (MSW) disposal has been one of the most important environmental problems for all of the Portuguese regions. The basic principles of MSW management in Portugal are: (1) prevention or reduction, (2) reuse, (3) recovery (e.g., recycling, incineration with heat recovery), and (4) polluter-pay principle. A brief history of legislative trends in waste management is provided herein as background for current waste management and recycling activities. The paper also presents and discusses the municipal solid waste management in Portugal and is based primarily on a national inquiry carried out in 2003 and directed to the MSW management entities. Additionally, the MSW responsibility and management structure in Portugal is presented, together with the present situation of production, collection, recycling, treatment and elimination of MSW. Results showed that 96% of MSW was collected mixed (4% was separately collected) and that 68% was disposed of in landfill, 21% was incinerated at waste-to-energy plants, 8% was treated at organic waste recovery plants and 3% was delivered to sorting. The average generation rate of MSW was 1.32 kg/capita/day.

Conservation of Natural Resources↗

[Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia].

OBJECTIVE: To detect mutations in the BRCA1 and BRCA2 genes by means of the protein truncation test (PTT) in a population in northern Portugal and Galicia with breast and ovarian cancer. DESIGN: Prospective study. SETTING: Patients in northern Portugal and Galicia with family history of breast and/or ovarian cancer.Patients. A total of 76 women with family history of breast cancer according to the BCLC criteria (Breast Cancer Linkage Consortium) were studied at IPATIMUP. MAIN RESULTS: Five cases (6.5%) with changes in the normal sequence in genes BRCA1 and BRCA2 were identified; three of these mutations occurred in the gene BRCA1 and the other two in the gene BRCA2. Two out of the three mutations found in the gene BRCA1 were de novo mutations. Changes detected in the normal sequence in the gene BRCA2 were mutations reported for the first time among the study population, according to the information obtained through the BCIC database (Breast Cancer Information Core). CONCLUSIONS: This was the first study in detecting individuals carrying mutations in the susceptibility breast cancer genes BRCA1 and BRCA2 among the population of northern Portugal and Galicia.

Breast Neoplasms↗

Y-chromosome STR haplotypes in two population samples: Azores Islands and Central Portugal.

The Y-chromosome haplotypes defined by nine STRs (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) were studied in 207 unrelated individuals from Central Portugal and 63 from Azores Islands. The most common haplotype in Central Portugal was shared by 3.4% of the males, while 160 haplotypes were unique. In Azores Islands the most common haplotype was shared by 6.4% of the males, while 40 haplotypes were unique. The values of haplotype diversity were 0.993 for Central Portugal and 0.976 for Azores Islands.

Chromosomes, Human, Y↗

How patients with heart failure are managed in Portugal.

The prevalence of heart failure is increasing all over the world. It is a common and growing public health problem in Portugal as in many other European countries. This article provides a review of health service organization and current heart failure management in Portugal, discusses primary care and ward practices in different hospitals and reports on the use of proven standard therapies for the treatment of heart failure in the community. Despite major advances in diagnosis and treatment, heart failure is only satisfactorily managed. Furthermore efforts are necessary before the beneficial effects observed in trials have a real impact in clinical practice. A broader view and priority for the management of this syndrome on a national level are needed to improve the quality of heart failure care in Portugal.

Cardiotonic Agents↗

Occurrence of Salmonella spp in estuarine and coastal waters of Portugal.

The presence of Salmonella and its relationship with indicator organisms of fecal pollution, such as total coliforms, fecal coliforms and fecal streptococci, was studied at two marine zones in Portugal. Seventeen different Salmonella serotypes were isolated and identified, S. virchow was the most frequently isolated (21.6%). In addition, a high percentage (35.1%) was recorded for some Salmonella serotypes of clinical significance, namely S. enteritidis, S. infantis, S. typhimurium and S. virchow. In any of the samples from the two zones Salmonella was not detected in the absence of any of the indicator organisms. However, the incidence of Salmonella as a function of indicator concentration intervals established by the EEC standards was 0, 10 and 19.3% at guide values of total coliforms, fecal coliforms and fecal streptococci, respectively in the Faro samples (south of Portugal). In contrast, Salmonella incidence rates of 37.5, 36.4 and 33.3% were recorded at the corresponding guide values the Caminha samples (north of Portugal). No significant correlations (p>0.005) were obtained between Salmonella and the indicators at the sampling stations; however, total coliforms and fecal streptococci were the indicators most closely related to Salmonella in Caminha and Faro samples, respectively. Survival experiments in Escherichia coli, Enterococcus faecalis and S. typhimurium, using diffusion chambers, were performed to verify whether the lack of correlation between indicators and Salmonella was due to different inactivation rates in seawater. The results indicate that survival percentages of the three microorganisms tested were similar after 48 h of exposure to seawater.

Bathing Beaches↗

Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal.

An earlier study of reference values of iron parameters in Portugal showed significant differences between populations from northern and southern villages. This study addresses the question of the geographical distribution in Portugal of the two main mutations (C282Y and H63D) of the hereditary hemochromatosis gene, HFE. For that purpose, a stratified sample of 640 anonymous dried blood spot samples was randomly selected from the major regions of Portugal: North, Center, Lisbon and the Tagus Valley, Alentejo and Algarve. Differences in the geographical distribution of these two mutations were observed thus confirming the presumed differences between the age of the two mutations which is compatible with the postulated Celtic/Nordic origin of the C282Y mutation. The finding of a significantly higher allelic frequency of the C282Y mutation in the North (0.058) than in the South (0.009) could also point to an effect of differential selective forces acting in the different geographical areas of the country. Data on archaeological, ethnographic and linguistic records and on the North/South distribution of Portuguese cattle breeds of European or African origin have also been reported. In addition to their interest for population genetics, the results represent a reminder of the need to take into account regional differences in the design of strategies for population screening of hereditary hemochromatosis.

DNA↗

Spatial distribution of Culicoides species in Portugal in relation to the transmission of African horse sickness and bluetongue viruses.

Surveillance of Culicoides (Diptera: Ceratopogonidae) biting midge vectors was carried out at 87 sites within a 50 x 50 km grid distributed across Portugal, using light trap collections at the time of peak midge abundance. Culicoides imicola (Kieffer) made up 66% of the 55 937 Culicoides in these summer collections. It was highly abundant in the central eastern portion of Portugal, between 37 degrees 5' N and 41 degrees 5' N, and in a band across to the Lisbon peninsula (at around 38 degrees 5' N). Of all the complexes, its distribution was most consistent with that of previous outbreaks of Culicoides-borne disease, suggesting that it may remain the major vector in Portugal. Its distribution was also broadly consistent with that predicted by a recent climate-driven model validating the use of remote sensing datasets for modelling of Culicoides distribution. Adult C. imicola were found to have overwintered at 12 of 20 sites re-surveyed in winter but it did so in very low numbers. Culicoides obsoletus (Meigen) and Culicoides pulicaris (Linnaeus) complex midges were widespread despite their low summer abundance. The observed coincidence of high abundances of C. imicola and high abundances of C. pulicaris in summer lead us to suggest that C. imicola could bring African horse sickness virus or bluetongue virus into contact with C. pulicaris and the latter complex, together with C. obsoletus, could then transmit these viruses across much wider areas of Europe. The fact that adult C. pulicaris are present in high abundances in winter may provide a mechanism by which these viruses can overwinter in these areas.

African Horse Sickness↗

Human immunodeficiency virus type 1 recombinant B/G subtypes circulating in Coimbra, Portugal.

An increasing prevalence of HIV-1 non-B variants is being noticed in several European regions, particularly in countries such as Portugal, which have closer contacts with African endemic areas, where multiple HIV subtypes cocirculate. HIV-1 subtyping by phylogenetic analyses of reverse transcriptase, protease and env (C2-V3) genomic regions was carried out in plasma collected from 18 HIV-1-infected subjects living in Coimbra, Portugal, and suspected to be infected with non-B variants. Three (16.7%) subjects carried recombinant B/G viruses (BV3/BRT/Gpro; GV3/URT/Bpro; AV3/GRT/Bpro), whereas all the remaining individuals were infected with HIV-1 subtype B. This is the first report of recombinant B/G subtypes in Portugal.

Adult↗

Psychosocial concomitants of loneliness among students of Cape Verde and Portugal.

This research is an examination of the relationship between loneliness and a number of psychosocial variables (e.g., affective state, cultural issues, gender, age) among adolescents and young adults from Cape Verde and Portugal. Two studies are presented. The participants in the first study were 285 adolescents from Cape Verde and 202 from Portugal, and in the second study there were 134 college students from Cape Verde and 112 from Portugal. The following instruments were administered to all the participants in both studies: The Revised UCLA Loneliness Scale (D. Russell, L. Peplau, & C. Cutrona, 1980), the Neuroticism Scale (J. Barros, 1999), the Optimism Scale (J. Barros, 1998), the Social Anxiety subscale (A. Fenigstein, M. Scheier, & A. Buss, 1975), and the Satisfaction With Life Scale (E. Diener, R. Emmons, R. Larsen, & S. Griffin, 1985). No ethnic or gender differences were found for loneliness between the two groups. For both groups, the most prominent predictors of loneliness were neuroticism and dissatisfaction with life. However, as expected, the adolescent group recorded higher scores for loneliness than did the college students.

Adolescent↗

Predictors of loneliness among students and nuns in Angola and Portugal.

The authors conducted 2 studies to examine the relationship between loneliness and psychosocial variables among people from Angola and Portugal. In the 1st study, the participants were 129 college students from Angola and 122 from Portugal, and in the 2nd study participants were 105 nuns from Angola and 74 from Portugal. The following instruments were administered to all participants in both studies: the Revised UCLA Loneliness Scale (D. Russell, L. Peplau, & C. Cutrona, 1980), the Neuroticism Scale (J. Barros, 1999), the Optimism Scale (J. Barros, 1998), and the Satisfaction With Life Scale (E. Diener, R. Emmons, R. Larsen, & S. Griffin, 1985). Ethnic differences were found in loneliness. The Angolan participants recorded higher scores for loneliness than did the Portuguese participants. For both samples the most prominent predictors of loneliness were neuroticism and dissatisfaction with life.

Adult↗