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At least 217 records · Page 12Linked to original sources
PubMed1992

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

RFLPs of 36 normal and 41 mutant alleles at the phenylalanine hydroxylase locus were determined in 31 Portuguese kindreds. A total of 14 haplotypes including 10 normal and 7 mutant alleles were observed. Almost 75% of all mutant alleles were confined within only two haplotypes, namely haplotype 9 (17.1%) and haplotype 1 (56.1%). This frequency of mutant haplotype 1 in Portugal is, to our knowledge, the highest for this mutant haplotype in all studies reported to date. Other mutant haplotypes were either rare (haplotype 2, 9.7%) or totally absent (haplotype 3, 0%). Only 24.5% of all mutant alleles were found to consistently carry identified mutations, particularly R261Q (9.8%), R252W (3.3%), R408W (1.6%) and delta I94 (3.3%). A new mutation, L249F, located in the seventh exon of the gene, accounted for 6.5% of all mutant alleles in our series. Interestingly, this mutant genotype was consistently associated with mutant haplotype 1 (P less than 0.01), as also observed for the R261Q mutation. It appears, therefore, that mutant haplotype 1 is genotypically heterogeneous in Portugal and that more than two mutations account for its prevalence in this country.

Alleles↗
PubMed2002

Pricing and reimbursement of pharmaceuticals in Portugal.

The pricing and reimbursement systems in Portugal are quite complex. This is due not only to the general characteristics of the Portuguese NHS but also to the past evolution of these systems. In this article we explain the main features of pharmaceutical policy in Portugal regarding pricing and reimbursement of medicines. Causes of government concern with expenditure and policies aiming at controlling it are pointed out. Policies are described through presentation of the most recent legislation approved on the issues analysed.

Journal Article↗
PubMed2001

Surprising drifting of bodies along the coast of Portugal and Spain.

Ocean currents are extremely important as agents affecting the scene of death, because they may transport bodies long distances. Under these circumstances, considerable difficulty is involved when conducting the search for a missing person. Furthermore, when the victim's body is found on the shore of a foreign country, additional complications arise regarding identification. In the medicolegal literature, this issue has rarely been evaluated from a forensic point of view. In this paper, we present the medicolegal investigations performed at the Santiago de Compostela Department of Forensic Medicine and Pathology (Ministry of Justice, Spain) and nine cases of identification of bodies which had drifted a considerable distance from the scene of death. The two bodies were considered to be the victims who committed suicide at the sea side, and the other seven bodies were identified as the victims of the bus accident in the Duero River, Portugal. When the distance and speed of the drifting bodies of the former two were compared to those of the latter seven bodies, it was surprising that the seven victims of the bus accident were found as clustered at the coast of Spain and some of them were pushed by the currents as much as 380 km in only 60 h. Such phenomena has never been reported, and the discovery of the majority of the corpses has had international far-reaching consequences. The identification of the victims was successfully carried out by dentistry, by DNA and in most cases, especially in those related to the bus accident in Portugal, by digital photography sent by electronic mail to the victim's home country. Attention is also given to a possible explanation related to the buoyancy and displacement of the bodies.

Journal Article↗
PubMed2003

Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain.

Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world because it affects all major racial subgroups worldwide and there are at least 120.5 million carriers and deficient subjects worldwide. This genetic disease is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults. Moreover, AAT-deficiency carrier phenotypes (PiMS and PiMZ) and deficiency-allele phenotypes (PiSS, PiSZ, and PiZZ) are suspected to make subjects susceptible to a variety of other adverse health effects. As there is a limited database on the number of individuals affected by this disease worldwide, the authors of the present report collected data on control cohorts in genetic epidemiological studies published in the peer-reviewed literature worldwide. The data collected were used to estimate the numbers of carriers and deficiency-allele combinations for the two most common defective alleles, namely PiS and PiZ, in over 58 countries worldwide. The present report focuses on the distribution of the PiS and PiZ deficiency alleles in France, Italy, Portugal, and Spain. The total number of individuals at risk for adverse health effects were as follows: 9, 101, 739 in France; 4, 289, 566 in Italy; 2, 659, 241 in Portugal; and 8, 903, 773 in Spain. The geographical distribution of individual control cohorts and estimates of the numbers of carriers and deficiency-allele phenotypes in each of these four southern European countries are shown in individual tables and maps. This report will be followed by other reports on the remaining countries in Europe, as well as worldwide.

Europe↗
PubMed2003

Genetic structure and origin of peopling in the Azores islands (Portugal): the view from mtDNA.

The Azores islands (Portugal), uninhabited when discovered by Portuguese navigators in the fifteenth century, are located in the Atlantic Ocean 1500 km from the European mainland. The archipelago is formed by nine islands of volcanic origin that define three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). To improve the genetic characterisation of the Azorean population, and to clarify some aspects related to the history of settlement, a study of mtDNA was conducted in the population of the archipelago. The HVRI region was sequenced and specific RFLPs were screened in 146 samples obtained from unrelated individuals with Azorean ancestry (50 from the Eastern group, 60 from the Central group, and 37 from the Western group). Samples were classified into haplogroups based on the information obtained from both sequencing and RFLP analysis. All the analyses performed support the idea that, in the whole group of islands, the majority of mtDNA lineages originated from the Iberian Peninsula, mainly from Portugal (mainland). However contributions from other European populations, especially from Northern Europe, cannot be disregarded. The values obtained for the various diversity parameters in the Azores archipelago indicate that the Azorean population, as a whole, does not exhibit the typical characteristics of an isolated population. The analysis of genetic data by groups of islands showed that the Western group exhibited particular features. The distribution of haplogroups in the Western group is very atypical, being significantly different from what is observed in the Eastern and Central groups. Furthermore, the diversity values are, in general, lower than those observed in other populations used for comparison. African haplogroups were found in all the groups of islands. Therefore the presence of Moorish and African slaves on the islands, as reported in historical sources, is supported by the mtDNA genetic data, especially in the Eastern group. The presence of Jews in the Central group is also supported by the mtDNA data. Neither historical nor genetic data (phylogeography of mtDNA) supports the idea of a differential settlement history for the Western group; however, it is represented in the phylogenies as an isolated branch. The effect of genetic drift, induced by the reduced population size since peopling occurred, has led to a very atypical distribution of haplogroups/haplotypes in this group of islands. We cannot ignore the influence of biodemographic and genetic processes, namely founder effect, genetic drift, migration, and even recent mutational events in the mtDNA lineages of the Azorean populations. Nevertheless, a great part of the variation in the Azorean mtDNA can be explained by the settlement history.

Azores↗
PubMed1999

Streptococcus pyogenes isolated in Portugal: macrolide resistance phenotypes and correlation with T types. Portuguese Surveillance Group for the Study of Respiratory Pathogens.

From January 1998 to June 1999, 302 clinical isolates of Streptococcus pyogenes were collected from 10 microbiology laboratories in Portugal. All strains were highly sensitive to penicillin (MIC90 = 0.012 mg/liter). The prevalence of erythromycin resistance was 35.8% and of tetracycline resistance 41.4%. The majority (79.6 %) of erythromycin-resistant strains were of the MLSB constitutive resistance (CR) phenotype with high-level resistance to erythromycin (MIC90 >256 mg/liter) and to clindamycin (MIC90 >256 mg/liter), 16.7% showed the M phenotype with low-level erythromycin-resistance (MIC90 = 24 mg/liter) and susceptibility to clindamycin, and four isolates showed a phenotype characterized by low-level erythromycin resistance (MIC90 = 8 mg/liter) and high-level clindamycin resistance (MIC90 >256 mg/liter), not previously described. Erythromycin resistance was not associated with invasive strains. Only minor discrepancies between disk diffusion and E-test methods were observed. T serotyping was very useful for the epidemiological characterization of the strains. The most prevalent T types were T1, T4, T9, T12, T13, and T28. A statistically significant association with resistance patterns was found: T12 with erythromycin resistance MLS(B) CR phenotype (p< 0.001), T4 with erythromycin resistance M phenotype (p<0.001), and T13 with tetracycline resistance (p<0.01). Because of the high prevalence of resistance, careful surveillance of S. pyogenes isolates in Portugal is essential, routine antimicrobial susceptibility testing in clinical microbiology laboratories should be strongly encouraged, antibiotic prescription should be reviewed, and macrolides should no longer be used in the empirical therapy of acute pharyngitis.

Anti-Bacterial Agents↗
PubMed2005

Phylloplane yeasts from Portugal: seven novel anamorphic species in the Tremellales lineage of the Hymenomycetes (Basidiomycota) producing orange-coloured colonies.

A survey of epiphytic yeasts on leaves of selected Mediterranean plant species collected at the 'Arrábida Natural Park' (Portugal) yielded about 850 isolates, mostly of basidiomycetous affinity. Amongst the basidiomycetes, 35 strains showed the following characteristics: production of orange-coloured colonies, ability to produce starch-like compounds, assimilation of D-glucuronic acid and/or inositol, inability to utilize nitrate, and formation of ballistoconidia by many of the isolates. This group of yeasts was assigned to the Tremellales lineage of the Hymenomycetes and was further characterised using a combination of conventional phenotypic identification tests with molecular methods, namely PCR fingerprinting and rDNA sequencing. Eight additional strains presumptively identified as Bullera armeniaca, B. crocea or Cryptococcus hungaricus were also studied. Twenty-eight strains could be assigned to or were phylogenetically related to recognised species of Dioszegia in the 'Luteolus clade', but the 15 remaining strains belonged to other clades within the Tremellales. Ten phylloplane isolates were identified as Dioszegia hungarica, one as D. aurantiaca, another as D. crocea and three others were ascribed to the recently described species D. zsoltii. Seven novel species, viz. Cryptococcus amylolyticus, C. armeniacus, C. cistialbidi, Dioszegia buhagiarii, D. catarinonii, D. fristingensis and D. takashimae, are proposed for the remaining strains that did not correspond to any of the hitherto recognised species.

Basidiomycota↗
PubMed2003

Bringing emergency contraception over the counter: experiences of nonprescription users in France, Norway, Sweden and Portugal.

Emergency contraceptive pills are now available on a nonprescription basis in over 25 countries worldwide. In an effort to learn about women's experiences with this new means of emergency contraception (EC) service delivery, we conducted focus-group discussions with nonprescription EC users from France, Norway, Portugal and Sweden. Participants from these countries overwhelming supported pharmacy access to EC, explaining that pharmacy delivery facilitated rapid access to the method. Despite expressing mixed reviews of the counseling given by the providing pharmacists, participants reported that they knew how use the method safely and properly. Most indicated that the package insert was easy to understand and adequately answered the majority of their questions. Participants described the EC experience as a motivating factor that, in many cases, has led to more consistent use of regular contraceptive methods. These data are valuable to policy-makers and institutions interested in learning more about the safety and acceptability of nonprescription access to emergency contraceptive pills.

Access to Information↗
PubMed1998

Causes of death in Machado-Joseph disease: a case-control study in the Azores (Portugal).

BACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history. A considerable effort has been made to obtain genealogies that are as complete as possible, making use of different types of data. The utility of the death causes contained in the death registers of the patients with MJD was determined in this study. OBJECTIVES: To estimate the extent to which the cause of death reported in the death register can confirm other reports of an individual's status for the disease (ie, oral information), and to determine the accuracy of the death certificates in listing MJD in patients whose disease was clinically diagnosed. DESIGN: Case-control study. METHODS: The death registers of 113 patients with MJD (82 whose disease was identified by history and 31 whose disease was clinically diagnosed) were examined and compared with those of controls matched by sex and date and place of death. RESULTS: There were significant differences in the causes of death between cases and controls, both for those whose disease was identified by history (chi(2) = 51.69, P < .001) and for those whose disease was identified by examination (chi(2) = 27.78, P = .004). However, the cause of death was in accord with the presence of the disease in only 40% of the cases reported as being identified only by family history. In the cases in which the disease was clinically diagnosed, only nearly 38% of the registers provided reliable information as to MJD being the direct cause of death. CONCLUSIONS: The fact that only nearly 40% of the patients with clinically confirmed MJD had a cause of death compatible with MJD precludes the use of cause of death as a means of identifying affected individuals in the Azorean MJD pedigrees.

Adult↗
PubMedDate not supplied

Social background and age at menarche in Portuguese university students: a note on the secular changes in Portugal.

Menarcheal age of a sample of Portuguese university students (n = 3366), born between 1972 and 1983, age 18-23 years, was analyzed. The influence of parents' educational level and occupation, family size, birth order, and degree of urbanization of girl's locality of residence during childhood and adolescence were analyzed as well as secular trend in the Portuguese population. Mean age at menarche for girls born in 1983 was 12.32 years. Parents' educational level and occupation did not show any significant influence on mean age at menarche. Place of residence during childhood years and adolescence showed a significant effect on mean age at menarche, with girls from rural places with a later age at menarche than those who spent their childhood or adolescence in urban areas (P <or= 0.01 and P <or= 0.05 for childhood and adolescence, respectively). Family size and birth order showed the highest effect. Girls born in small families, with one child, matured earlier (12.32 years) than those born in large families with four or more children (12.67 years), (P <or= 0.01). Also, girls that were first-born had an earlier menarche (12.41 years) than those who were third or later (12.58 years, P <or= 0.01). Regression analysis selected family size and place of residence in childhood as the most important determinants of mean age at menarche in our university students. In this sample, from 1972 to 1983, mean age at menarche remained stable. When we considered published data from all the Portuguese population we found a decrease in mean age at menarche from 15 years for girls born in 1880 to 12.44 for those born in the 1980s. This decrease was the result of great improvements in the social and economic living conditions that occurred in Portugal especially after the 1970s concerning nutrition and health care, among many other environmental factors.

Adolescent↗
PubMed2006

Anatomy of a serial killer: differential diagnosis of tuberculosis based on rib lesions of adult individuals from the Coimbra Identified Skeletal Collection, Portugal.

The role of new bone formation on visceral surfaces of ribs in the diagnosis of tuberculosis (TB) in past human populations has been explored by many researchers, using both skeletal remains with known causes of death and archaeological samples. This study focuses, firstly, on adult skeletons from the Coimbra Identified Skeletal Collection in Portugal and investigates the skeletal manifestations of individuals known to have died from TB; secondly, this study focuses on the role of rib lesions in the diagnostic criteria for TB. One hundred and fifty-seven males and 106 females aged between 22-87 years were examined; causes of death were assigned as pulmonary TB, extrapulmonary TB, and pulmonary non-TB; a control group, extrapulmonary non-TB, was selected from the remaining individuals. Of individuals with rib lesions, 85.7% (69/81) had pulmonary or extrapulmonary TB as an assigned cause of death, while 17.8% (16/90) of individuals with rib lesions had a non-TB cause of death. Rib lesions were significantly more common in individuals who had died from TB, although the lesions cannot be considered pathognomonic for TB. In individuals dying from pulmonary TB, ribs in the central part of the rib cage were most affected, at their vertebral ends. The lower part of the rib cage may be a marker for peritoneal TB, and "coral-like" new bone formation on ribs may be an indicator of neoplastic disease. Further work on rib involvement in TB in clinical contexts, and the study of further documented skeletal collections, are recommended.

Adult↗
PubMed2006

Brief communication: the collection of identified human skeletons housed at the Bocage Museum (National Museum of Natural History), Lisbon, Portugal.

A large collection of identified human skeletons curated at the Bocage Museum (National Museum of Natural History, Lisbon, Portugal) has remained in relative anonymity since its collecting protocol was initiated in the 1980s. This collection originates from modern cemetery sources and is comprised of 1,692 skeletons with basic documentary data (age at death, place of birth, occupation, place of residence, and date and cause of death). At present, this information is more readily available for 699 individuals. The remaining 993 are in the process of being fully documented. The skeletons consist largely of Portuguese nationals who lived in the 19th and 20th centuries (1805-1975) in Lisbon. Both sexes are equally represented, and ages at death range from birth to 98 years, including 92 subadults (<20 years old).

Female↗
PubMed2006

On the trail of pulmonary tuberculosis based on rib lesions: results from the Human Identified Skeletal Collection from the Museu Bocage (Lisbon, Portugal).

In the last 20 years, studies on human identified skeletal collections have revealed a significant relationship between new bone formation on the visceral surface of ribs and pulmonary tuberculosis (TB). To improve methods of differential diagnosis of respiratory diseases in archaeological skeletons, an investigation was conducted on 197 individuals from the Human Identified Skeletal Collection of the Museu Bocage (Lisbon, Portugal). This sample included 109 males and 88 females who lived during the 19th-20th centuries, with ages at death ranging from 13-88 years. The skeletons were grouped according to cause of death: 1) pulmonary TB (N = 84); 2) pulmonary non-TB diseases (N = 49); and 3) a control group (N = 64) composed of individuals randomly selected among the extrapulmonary non-TB causes of death. The ribs, sterna, scapulae, and clavicles were macroscopically observed. New bone formation on the visceral surface of ribs was recorded in 90.5% (76/84) of individuals who died from pulmonary TB, in 36.7% (18/49) with a pulmonary non-TB disease as cause of death, and in 25.0% (16/64) of the control group. These differences were statistically significant (P < 0.001). Furthermore, in individuals with pulmonary TB, the bony lesions presented mainly as lamellar bone on the vertebral end of the upper and middle thoracic rib cage. Proliferative alterations also occurred on one sternum and in nine clavicles and eight scapulae. This work strongly supports the results of similar studies performed on other documented collections, suggesting that new bone formation on ribs, although not pathognomonic, is a useful criterion for the differential diagnosis of pulmonary TB.

Adolescent↗
PubMed2005

Utilization of public health centres in Portugal: effect of time costs and other determinants. Finite mixture models applied to truncated samples.

The impact of time costs on the utilization of medical care has been a subject of theoretical and empirical research since the early 1970s. The main goal of this paper is to show the effect of time costs on the number of visits to general practitioners (GP) in Portuguese public health centres. We measured the elasticity of primary health care utilization relative to the total time spent in the health centre and relative to travel time. We also provided evidence regarding the impact of an appointment delay on the utilization of public GP services. Our data resulted from the application of an endogenous sampling scheme, resulting in a truncated-at-zero data set. To model our dependent variable, number of visits, and accounting for the truncated nature of the data we used a finite mixture model specification. The data were obtained from the most recent implementation in Portugal of the 2003/2004 Europep Survey. The two-component negative binomial II finite mixture model led to the identification of two different latent classes of health centre users: a low-users class that comprises 88% of patients with an estimated utilization mean of 4.3 GP visits per year and a frequent-users class with an estimated utilization mean of 11.1 visits for the remaining 12% of the population. We failed to find any statistically significant elasticity of time cost utilization, when this variable is measured as the total time spent in the health centre. Regarding the effect of an appointment delay on health centre utilization we concluded that individuals respond to this variable by lowering the number of GP visits. This last finding may have policy implications, which will be discussed at the end of the paper.

Animals↗
PubMed1989

Seroprevalence of HTLV-I in Portugal and evidence of double retrovirus infection of a healthy donor.

The prevalence of antibodies to HTLV-I in 5,475 Portuguese from 6 regions spanning the country was studied. Overall seroprevalence was 0.55%, indicating that Portugal is not an endemic area for this virus. Seropositives were distributed throughout the country, and no geographic clustering was observed. The seroprevalence of individuals who had lived in former Portuguese colonies in Africa (0.7%) was significantly higher than that of individuals who had not been in Africa (0.36%). An increase in seroprevalence with age was noted, and more females than males were antibody-positive, though not significantly so. Serum from one donor (1711), originating from Guinea-Bissau, was shown by Western blot and radioimmune precipitation to react with various proteins of HTLV-I, HIV-1 and -2, and SIV. Based on the serologic profiles and isolation of bona fide HTLV-I from her lymphocytes (confirmed by immunologic analysis, molecular cloning of the provirus and restriction enzyme analysis and sequencing of the DNA), together with the reactivity of her sera with an HIV-2 isolate obtained from her husband, we conclude that this donor was doubly infected with HTLV-I and HIV-2, rather than being the host to an as yet unidentified retrovirus.

Acquired Immunodeficiency Syndrome↗
PubMed1975

Immunoglobulin allotypes in portugal.

The frequency of several immunoglobulin allotypes has been evaluated in a sample of 419 Portuguese subjects. It was found that the percentage of Gm (1) and of Gm (2) are among the highest in Europe, although Portugal is situated in the extreme southwest of Europe. A few cases of dissociation of Gm (1) and Gm (2) were noted and attributed to the probable presence of African admixture.

Alleles↗
PubMed1991

Cryptococcus yarrowii sp. nov., a novel yeast species from Portugal.

A novel species of the basidiomycetous genus Cryptococcus is described as Cr. yarrowii based on the study of an isolate from a decayed mushroom collected in Portugal. DNA-DNA homology with the type strain of the phenotypically similar species Cr. albidus was 10 +/- 2%.

Cryptococcus↗