PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Azores”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources

Genetic linkage of bipolar disorder to chromosome 6q22 is a consistent finding in Portuguese subpopulations and may generalize to broader populations.

We recently reported genome-wide significant linkage to chromosome 6q for bipolar disorder, in a study of 25 Portuguese families, using the Human Mapping Assay Xba 131 (HMA10K). To explore the generalizability of this finding, we reanalyzed our SNP linkage data according to the families' geographic origin. Specifically, the 25 families included 20 families from the Portuguese island collection (PIC; 15 families from the Azores Islands and 5 from the Madeira Islands) and 5 families from continental Portugal. Non-parametric linkage analysis (NPL) was performed as previously described and indicated that each of these subpopulations showed evidence of linkage for the same region. To further address the potential generalizability of these findings to other populations, we have also examined allelic heterozygosity in our subpopulations and in three reference populations (Caucasian, East Asian, and African-American). This analysis indicated that the PIC population is highly correlated to the Caucasian reference population (R = 0.86) for all of chromosome 6. In contrast allelic heterozygosity was more weakly correlated between PIC and both East Asian (R = 0.37) and African-American (R = 0.32) reference populations. Taken together these observations suggest a shared genetic liability among Portuguese populations for bipolar disorder on chromosome 6q, and that the PIC population is likely representative of Caucasians in general.

Alleles↗

'The stumbling disease': a case study of stigma among Azorean-Portuguese.

There exists among Azorean-Portuguese a biological malady that is inherited. First recognized by biomedicine in 1972 as a distinct disease entity, it has been in existence in the United States and the Azores Islands since at least the mid-1800s. The malady is generally known as the 'stumbling disease' among the Azorean-Portuguese; the current biomedical literature refer to it as Machado-Joseph disease. Historically an aura of stigma has surrounded affected individuals, their families, and primary ethnic group in which the malady is currently found. Drawing heavily on the work of Erving Goffman Stigma: Notes on the Management of Spoiled Identity. Prentice-Hall, Englewood Cliffs, N.J., 1963) and labelling theory, this paper explores the nature of this stigma. The cultural contexts of a small, face-to-face, homogeneous island setting is contrasted with that of the heterogeneous, anonymous setting of the United States to illuminate various aspects of the stigma configuration. The cultural context has important implications for stigma definitions, modes of social control, and management strategies of the stigmatized.

Azores↗

Waiting for the family legacy: the experience of being at risk for Machado-Joseph disease.

Every offspring of an individual with Machado-Joseph disease has a 50% chance of inheriting the disease-causing gene, and symptoms usually do not appear until adult life, usually between the ages of 20 and 40. There are no predictive screening tests available for the disease. This paper, drawn from data collected as part of a larger study of the malady among descendants of Azorean-Portuguese in the Azores Islands and in northern California, explores the subjective state of genetic risk. Although individuals at risk vary in their reactions to the threat of Machado-Joseph disease, there are commonalities of concern that cross-cut individual differences. These differences and commonalities are important for what they might tell us about the experience of genetic risk in general, as well as Machado-Joseph disease in particular.

Adult↗

Gas chromatography system for the automated, unattended, and cryogen-free monitoring of C2 to C6 non-methane hydrocarbons in the remote troposphere.

An unattended, automated, on-line, cryogen-free, remotely controlled gas chromatography (GC) system was developed and has been deployed for more than 1 year for the continuous determination of C(2) to C(6) hydrocarbons at an observatory located at 2225 m elevation, on the summit caldera of an inactive volcano on the island of Pico, Azores. The GC instrument is tailored to the measurement challenges at this remote and high altitude site. All consumable gases are prepared in situ. Total power use remains below 700 W at all times. Sample collection and analysis is performed without use of cryogen. Hydrocarbons are concentrated on a one-stage trapping/injection system consisting of a Peltier-cooled multi-bed solid adsorbent trap. Analytes are detected after thermal desorption and separation on an alumina-PLOT (porous-layer open tubular) column by flame ionization detection (FID). Sample focusing, desorption, separation and detection parameters were thoroughly investigated to ensure quantitative collection and subsequent injection onto the GC system. GC operation is controlled remotely and data are downloaded daily. Sample volumes (600 and 3000 ml) are alternated for analysis of C(2) to C(3) and C(3) to C(6) hydrocarbons, respectively. Detection limits are in the low parts per trillion by volume (pptv) range, sufficient for quantification of the compounds of interest at their central North Atlantic lower free troposphere background concentrations.

Absorption↗

Bioavailability and cellular effects of metals on Lumbricus terrestris inhabiting volcanic soils.

Whether the radial thickness (RT) of the chloragogenous tissue and intestinal epithelium of earthworms (Lumbricus terrestris) reflects the bioavailability of metals in soils was investigated in two areas, one with active volcanism (Furnas) and another with no volcanic activity since 3 million years ago (Santa Maria), in the Azores. Metal contents in soil samples and earthworms from the two areas were analyzed. Autometallography and measurements of the RT were performed in the chloragogenous tissue and intestinal epithelium. Earthworms from the active volcanic area demonstrated lower RT of chloragogenous tissue and intestinal epithelium as well as higher levels of bioavailable metals, especially Zn and Cd. Comparison of bioavailable metal contents between both areas suggests a higher risk for uptake of potentially toxic metals in the active volcanic area than in the non-active volcanic area, which is reflected by the lower RT of the chloragogenous tissue and intestinal epithelium in the former.

Animals↗

Human leptospirosis in Portugal: A retrospective study of eighteen years.

INTRODUCTION: Leptospirosis, an under-recognized public health problem, needs to be confirmed through specific laboratory diagnosis. DESIGN: We describe herein a series of 4618 symptomatic patients for whom a microagglutination test (MAT) serology was available, representing a unique picture of human leptospirosis in central mainland Portugal and the Azores islands of São Miguel and Terceira, over eighteen- and twelve-year periods, respectively. RESULTS: The distribution of the 1024 (22%) cases identified was an average 57 cases per year, with higher frequency in males (67%). These represent the majority of leptospirosis notifications in Portugal, with a higher annual incidence rate in the islands, compared to the central mainland (11.1 and 1.7/100,000 population, respectively). Middle-aged adults (25-54 years) were most frequently infected (45%). Cases occurred mainly in December and January. Serovars from nine presumptive serogroups caused infection, with a predominance of Icterohaemorrhagiae, Pomona, and Ballum, accounting for 66% of cases. CONCLUSIONS: Seropositivity was associated with both anicteric and icteric leptospirosis. Several risk factors and a higher transmission risk in certain areas were emphasized. Leptospirosis was confirmed as a steadily increasing public health problem; good surveillance, communication, and laboratory support are thus necessary to reduce the impact of leptospirosis in areas at risk.

Adolescent↗

Freshwater molluscs from volcanic areas as model organisms to assess adaptation to metal chronic pollution.

Cellular biomarkers of exposure and biological effects were measured in digestive gland of snails (Physa acuta) sampled in sites with and without active volcanism in São Miguel Island (Azores). Metal content in digestive cell lysosomes was determined by image analysis after autometallography (AMG) as volume density of autometallographed black silver deposits (Vv(BSD)). Lysosomal structural changes (lysosomal volume, surface and numerical densities - Vv(LYS,) Sv(LYS) and Nv(LYS-), and surface-to-volume ratio - S/V(LYS)-) were quantified by image analysis, after demonstration of beta-glucuronidase activity, on digestive gland cryotome sections. Additional chemical analyses (atomic absorption spectrophotometry) were done in the digestive gland of snails. The highest metal concentrations were found in snails from the active volcanic site, which agreed with high intralysomal Vv(BSD). Digestive cell lysosomes in snails inhabiting sites with active volcanism resembled a typical stress situation (enlarged and less numerous lysosomes). In conclusion, the biomarkers used in this work can be applied to detect changes in metal bioavailability due to chronic exposure to metals (volcanism), in combination with chemical analyses.

Adaptation, Physiological↗

First epidemiological data on pathogenic leptospires isolated on the Azorean islands.

Insectivores (Erinaceus europaeus) and rodents (Rattus rattus, R. norvegicus and Mus musculus) from different islands of the Azores Archipelago were found to carry three distinct Leptospira interrogans s.l. serovars (copenhageni, icterohaemorrhagiae and ballum) which have never been previously investigated there. The house mouse and the black rat were the major Leptospira reservoirs showing isolation rates ranging from 0% for both species (in Graciosa) to 88% and 33%, respectively (in Sãao Miguel). This study also showed that the majority of the animals with positive kidney cultures exhibited specific agglutinins against the isolated strains of Leptospira. The observed isolation rates in the different islands, with a very interesting island variation in prevalence, suggest that small mammals, serving as sylvatic reservoirs of pathogenic leptospires, may represent an important risk to the health of humans and livestock, particularly in the islands of Terceira and Sãao Miguel.

Animals↗

Isolation and toxigenicity of Aspergillus fumigatus from moldy silage.

Thirty-nine silage samples were collected from various silos on Terceira Island in the Azores. Samples were examined for the presence of total fungi, and isolates of Aspergillus fumigatus were analyzed for their ability to produce fumitremorgens B and C, fumigaclavines B and C, and gliotoxin. Thirty-four silage samples (87%) were contaminated with fungi, and A. fumigatus was isolated from 27 samples (69%). Samples that were taken from the surface of silos had significantly higher populations of both total fungi and A. fumigatus than did samples taken from the middle of silos. Analysis of 27 A. fumigatus isolates (one representing each positive sample) showed that 59.3% produced fumitremorgen B; 33.3% produced fumitremorgen C; 29.6% produced fumigaclavine B; 7.4% produced fumigaclavine C; and 11.1% produced gliotoxin. Fifty-two percent of the isolates produced multiple toxins, and 25.9% did not produce any of these toxins. Gliotoxin and fumigaclavine C were always produced in combination with other toxins. Because of the demonstrated potential of these A. fumigatus isolates to produce mycotoxins, it is important to properly construct and manage silos to prevent their contamination with A. fumigatus.

Aspergillus fumigatus↗

Purification and characterization of a new peptide antibiotic produced by a thermotolerant Bacillus licheniformis strain.

A Bacillus licheniformis strain, 189, isolated from a hot spring environment in the Azores, Portugal, strongly inhibited growth of Gram-positive bacteria. It produced a peptide antibiotic at 50 degrees C. The antibiotic was purified and biochemically characterized. It was highly resistant to several proteolytic enzymes. Additionally, it retained its antimicrobial activity after incubation at pH values between 3.5 and 8; it was thermostable, retaining about 85% and 20% of its activity after 6 h at 50 degrees C and 100 degrees C, respectively. Its molecular mass determined by mass spectrometry was 3249.7 Da.

Anti-Bacterial Agents↗

Genetic differentiation reflects geological history in the Azorean land snail, Leptaxis azorica.

The land snail Leptaxis azorica, endemic on the Azores, was subjected to an electrophoretic (allozymes) and morphometric (genital tract) analysis. Genetic distances suggest the presence of four distinct lineages and are compatible with colonisation proceeding from the eastern, older islands (Santa Maria and São Miguel) to the west (Flores and Corvo). On São Miguel, genetic and morphometric differentiation is concordant with the separate colonisation of two islands that gave rise to the current island 50,000 years ago. The maximum time available for differentiation in isolation (0.55 million years) suggests a high rate of allozyme change between the two lineages on São Miguel. This may be related to population isolation and bottlenecks caused by human and volcanic activity on São Miguel in relatively recent times. This is more prominent in the eastern region where populations are also characterised by reduced genetic variation (loss of alleles and heterozygosity) compared to populations elsewhere.

Animals↗

Azorean disease of the nervous system.

We studied a family of Portuguese ancestry from the Azores who suffered a progressive neurologic disease characterized by gait ataxia, features similar to Parkinson's disease in some patients, limitation of eye movements, widespread fasciculations of muscles, loss of reflexes in the lower limbs, followed by nystagmus, mild cerebellar tremor and extensor plantar responses. Two post-mortem examinations revealed loss of neurons and gliosis in the substantia nigra, nuclei pontis (and in the putamen in one case) as well as in the nuclei of the vestibular and other cranial nerves, columns of Clarke and anterior horns, in the spinal cord there were also loss of fibers in the fasciculi gracilis and mild changes in the pyramidal tracts. Comparison of the disease in this family with the findings reported in three families of similar ancestry, previously thought to have different disorders, suggests that they may all represent a single genetic entity with variable expression.

Adolescent↗

Mating strategies of young women: role of physical attractiveness.

The female physical attractiveness stereotype has been reported to contain both desirable (sociable, poised, interesting) and undesirable (snobbish, likely to request divorce and have extra-marital affairs) personal qualities. To investigate whether such an attractiveness stereotype is cross-cultural, I asked men and women from Azore Island, Guinea-Bissau, Indonesia, and the U.S. to judge the attractiveness of female figures differing in body weight and waist-to-hip ratio (WHR) and to rank these figures according to perceived personal attributes. There was a strong cross-cultural consensus for attractiveness; figures with low WHR were judged to be more attractive than figures with high WHR within each weight category. Participants also judged attractive figures as less faithful than less-attractive figures. To explore the basis of a possible 'darker side ' of the attractiveness stereotype, behavior tactics of young U.S. women were examined. Compared to women with high WHRs, low-WHR women reported engaging in more flirting to make dates jealous, suggesting some truth to the attractiveness stereotype. Taken together, these findings suggest that female attractiveness influences the type of mating strategies employed by women.

Adult↗

Anorexia nervosa and bulimia: a prevalence study.

We determined the prevalence of anorexia nervosa and bulimia in a large sample of students attending a secondary school on the island of São Miguel (Azores) using the Diagnostic Interview for Children and Adolescents, which enabled us to collect the information necessary to make DSM-III diagnoses. Although the prevalence of anorectic and bulimic behaviour was rather high, the partial syndrome of anorexia nervosa was found in only 0.48% of the students (0.76% for girls and 0.17% for boys) and the syndrome of bulimia in only 0.16% (0.30% of the girls; there were no boys with bulimia). The overall prevalence of eating disorders, including partial syndromes, was rather low (0.64%). These results stand in sharp contrast to reports that eating disorders are common and probably getting more common. The low prevalence found in the present survey is probably due to the absence of sociocultural pressures to control eating and weight.

Adolescent↗

Polyphasic taxonomy of the basidiomycetous yeast genus Rhodosporidium: R. azoricum sp. nov.

This report presents the description of a new heterothallic Rhodosporidium species, R. azoricum sp. nov. The new species is based on two strains previously identified as Rhodotorula glutinis, which were isolated from soil in São Miguel island, Azores, Portugal. Evidence that the two strains were conspecific and distinct from Rhodotorula glutinis was obtained in DNA fingerprinting experiments using the microsatellite-primed PCR approach (MSP-PCR) and the primers M13 and (GTG)5. In order to determine the phylogenetic position of the new species, the nucleotide sequence of the D1/D2 region of the 26S rDNA was analysed and Rhodosporidium azoricum was found to belong to a cluster including R. fluviale, R. lusitaniae, Sporidiobolus microsporus, and S. ruineniae. The life cycle of R. azoricum was investigated and comparisons integrating physiological, morphological, and molecular data were made with related species.

Azores↗

Presumably Azorean disease in a presumably non-Portuguese family.

Autosomal dominant motor system degeneration (ADMSD) is a hereditary ataxia that has been reported previously only in Portuguese families from the Azores Islands. Cerebellar ataxia, pyramidal and extrapyramidal signs, amyotrophy, dystonia, abnormal eye movements, and prominent eyes are variably present. Four members of a family had cerebellar ataxia, dystonic posturing, a variety of abnormal eye movements, and prominent eyes resulting from lid retraction. Eight other family members had a similar disease. The combination of cerebellar ataxia, dystonia, abnormal eye movements, and prominent eyes has been reported only in ADMSD. The family reported here may be the first example of ADMSD in a non-Portuguese family.

Adult↗

Determination of human caucasian mitochondrial DNA haplogroups by means of a hierarchical approach.

In this paper we propose a hierarchical approach that allows the screening of mitochondrial DNA (mtDNA) haplogroups in populations that have essentially West Eurasian mtDNA backgrounds but that could have some non-West Eurasian contributions. To develop and validate this scheme, we used data on 18 coding region polymorphisms (17 analyzed by RFLP analysis and 1 by sequencing) and sequences of hypervariable segment I (HVSI) of the mtDNA control region from the Azores Islands (Portugal) population. The proposed scheme allows the characterization of almost all West Eurasian and African major clusters by means of RFLPs. Furthermore, the scheme includes information on situations in which sequencing is pertinent to defining a particular haplogroup. The validity of the scheme is ensured by (1) using relatively stable polymorphic positions, (2) screening more than one position to define a specific haplogroup, and (3) typing confirmatory positions. Dubious samples can be resolved by sequencing. The robustness of this approach was assessed by sequencing all samples for HVSI, taking advantage of the previously established relationships between RFLPs and control region sequence polymorphisms. The use of this hierarchical approach avoids the screening of unnecessary control region polymorphisms and therefore results in a more rapid and cost-efficient screening than one in which all polymorphic positions are analyzed. Even if this approach leads to a lower level of phylogeographic resolution than the sequencing of all samples, it allows us to define population movements on a continental level and can be applied, unlike sequencing all samples, with a low cost in any laboratory.

Azores↗