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Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).

OBJECTIVE: The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program. METHODS: Scores for depression and anxiety were used as indicators of the subjects' emotional status immediately before the PT and 1 year after disclosure of the results. RESULTS: Global levels of participation in the Azorean PT Program for MJD were high (20.7%), particularly in Flores Island (35.8%). For the total sample, mean scores of depression and anxiety before and after the PT presented without clinical significance. No differences were found for depression and anxiety scores before and after the PT. Furthermore, when grouped by test results (carriers/non-carriers), there were no differences between pre- and post-test levels. CONCLUSIONS: Results indicate that the test result did not cause a decrease in the psychological well-being of the individuals tested. The high number of participants performing the PT in the small and isolated community of Flores Island, where MJD represents a source of stigma, was interpreted as an indication that in this particular population the PT offers the individuals at risk the possibility of liberating from a stigma, and, hence, from exclusion.

Adult↗

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions.

We studied 40 patients in 15 families from the Portuguese Azores Islands. Each family was affected by an autosomal dominant genetic disorder. Symptoms began between ages 20 and 50. Ataxia, ophthalmoplegia, pyramidal signs, dystonia, rigidity, and distal atrophy were the major clinical findings. Evidence suggested that this was a single genetic disease, with variable phenotypic expression. Machado disease, nigrospinodentatal degeneration with nuclear ophthalmoplegia, and autosomal dominant striatonigral degeneration may be variations of this same genetic disease.

Adult↗

Comparison of whole-blood glutathione peroxidase activity, levels of serum selenium, and lipid peroxidation in subjects from the fishing and rural communities of "Rabo de Peixe" village, San Miguel Island, the Azores' Archipelago, Portugal.

The activity of glutathione peroxidase (GSH-Px), serum selenium (Se), and thiobarbituric acid reactive substances (TBARS) were measured in the whole blood of 148 healthy adults aged 20-60 yr from the fishing and rural communities of "Rabo de Peixe," The Azores, Portugal. The subjects did not live in the same household and had different socioeconomic profiles and dietary habits. The serum lipid profile and selected life habits were also considered in this study. No significant differences in the activity of GSH-Px were found in the interpopulation or intrapopulation analyses, classified by age or lipid profile. An age-dependent GSH-Px increase was noted in the younger male (M) subgroups (20-39 yr). The Se levels were higher in fishers (f) of both genders (M, F) than in subjects living in the rural (r) environment: 110+/-25 microg/L (f, M), 89+/-20 microg/L (f, F), 88+/-22 microg/L (r, M) and 80+/-17 microg/L (r, F). In the fishers, but not in the rural population, Se was higher in the males, but it did not show significant variation with age. The levels of TBARS were lower in the f than in the r male group. The Se level was lower and TBARS higher in the hyperlipemic women in the f group, compared to the corresponding controls. Our results suggest that the fishers (mainly men) show a better antioxidant status than that of their rural counterparts, due to differences in dietary habits between the study populations and between genders.

Adult↗

Endemic goitre in the island of S. Miguel (the Azores).

A survey of endemic goitre in the island of S. Miguel (the Azores) was performed. The prevalence of goitre in school-children varied between 11 and 41%. In the most affected region, 16% of the adult males and 48% of the women had goitre, in some cases grade 3. The median urinary excretion of iodine was very low in school-children, varying between 10 and 49 micrograms I/g creatinine. The reasons for such a low iodine intake in the population of this oceanic island are the scarcity of fish in the diet and, possibly, the leaching of the soil of its iodine content due to high pluviosity.

Adolescent↗

Population study of HUMTH01, HUMVWA31/A, HUMF13A1, and HUMFES/FPS systems in Azores.

The tetrameric short tandem repeat polymorphisms HUMTH01, HUMVWA31/A, HUMF13A1, and HUMFES/FPS were studied in blood stains obtained from a population of unrelated individuals from the Azores Archipelago (Portugal). Gene frequencies were determined and no deviation from the Hardy-Weinberg equilibrium was found. However, the allelic independence test between loci showed linkage disequilibrium between HUMVWA31/A and HUMFES/FPS. A combined discrimination power and chance of exclusion of, respectively, 0.9999 and 0.9534, reveal the high forensic interest of the four systems. No differences with other caucasoid populations were found, but comparison with some asiatic, eskimo, and amerindian populations showed significant statistical differences.

Amino Acid Sequence↗

[The epidemiology of proximal femur fracture at the Hospital da Horta (Azores)].

The aim of this study was to know the incidence of osteoporotic hip fracture in a defined area of the Azores. The catchment area included the islands of Faial, Pico, Flores and Corvo, with 11,617 subjects aged 50 or more: 5,373 males and 6,244 females. The time period of the survey was 1991 to 1993. Data was obtained from the records of the Orthopedic Department of Hospital Horta. Thirty seven fractures were diagnosed during the time survey: 12 in 1991, 13 in 1992 and 12 in 1993. The age-adjusted mean incidence rates of hip fracture for the population over 49 years old was 10.3/10,000: 5.6/10,000 in men and 14.4/10,000 in women. Most fractures occurred in women over the age of 65 years. The ratio of male to female cases was 1:3. The mean age of all patients was 77 +/- 8 years of age: 72 +/- 8 in males and 79 +/- 6 in females (p = 0.05). About 70 percent of these patients were treated surgically. The acute mortality rate was 8 percent and the mean age of the deceased patients, 82 +/- 6, was significantly higher than the mean age of the survivors, 73 +/- 6 (p = 0.01).

Age Distribution↗

[Epidemiologic study of bronchial asthma in schoolchildren from the Azores (Faial)].

Epidemiologic data on prevalence of bronchial asthma among childhood in the Azores have been unknown so far. In October of 1993 a study was carried out to determine the prevalence of bronchial asthma in children aged 6-12 years on the island of Faial. Nine hundred and twenty seven schoolchildren, representing more than 95% of children within this age group, were studied. A questionnaire was distributed to be filled out by their parents and returned to the schools. Children were considered to have bronchial hyperreactivity when they had an episodical wheeze, spontaneous or related to cold, exercise, airway infections or allergic exposure, and to have asthma when they had been diagnosed by a doctor or had consulted their physicians for dispnea accompanied by wheezing and had received asthma medication in the last year or in their lifetime. The cumulative prevalence of asthma was 8% (CI 95%: 7-9%). Asthma was significantly more common in males (69%; CI 95%: 57-78%) than in females (31%) (p < 0.001). Seventy percent of the diagnoses were made in the first 5 years of life. Allergy was reported more often among asthmatic children (71%: CI 95%: 59-81%) than in the non-asthmatic group (29%) (p < 0.001). Seventy seven percent (CI 95%: 65-85%) of asthmatic subjects had a family history of asthma. Asthma was not reported significantly more often in households with smokers than in those without smokers.

Asthma↗

[The prevalence of the principal cardiovascular risk factors in the population of the Azores].

STUDY OBJECTIVE: to characterize the high mortality rate by ischemic heart disease in Azores, by evaluating the main coronary heart disease risk factors prevalence in the population. DESIGN: sample study referring the population of 5 islands: 37 counties. Aleatory choose in the electoral lists. SETTING: the selected individuals were convocated by mail to show up at the Hospital for evaluation. PATIENTS: 1089 individuals selected by aleatory choose from the electoral lists. INTERVENTIONS: the sample was stratified regarding rural (R) and urban (U), by sex feminine (F) and masculine (M), age 20-40 and 40 to 60 years old. All of them were determined three values of blood pressure, and was taken for exact value the medium of the three, inquired the smoking habits and serum lipids were determined. We considered risk factors (RF); blood pressure > 140/90 mmHg, total cholesterol > 200 mg/dl, HDL cholesterol < 35 mg/dl, triglycerides > 180 mg/dl and smoking habits were stratified in three scores: 1: 1-10, 2: 11-20, and 3: more than 20 cigarettes a day. MAIN RESULTS: total prevalences; HBP 20.4%, smoking habits 33%, total hypercholesterolemia 47.3%, low HDL cholesterol 17.4% and triglycerides 30.5%. CONCLUSIONS: the values found for total cholesterol, triglycerides and smoking habits were high and superior to the national medium and to those found in reference studies. Preventive strategies are pointed out.

Adult↗

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↗

Bioaccumulation of Hg, Cu, and Zn in the Azores triple junction hydrothermal vent fields food web.

In this work, mercury (Hg), copper (Cu) and zinc (Zn) concentrations and tissue distribution are determined in seven benthic invertebrates species (the key species) from the Mid Atlantic Ridge (MAR) hydrothermal vent fields. The samples were collected from three hydrothermal vent fields--Menez Gwen, 840 m; Lucky Strike, 1700 m and Rainbow, 2300 m--near the Azores Triple Junction. These fields are characterized by different depths, geological context and chemical composition of the hydrothermal fluid, particularly the metal content, which is reflected by the metal concentrations in the organisms. Indeed, our results show that organisms from Menez Gwen presented the highest Hg concentrations, while those from Lucky Strike and Rainbow were richer in Cu and Zn. The potential transfer of these metals through two trophic links are also evaluated and include (1) the mussel Bathymodiolus azoricus and the commensal worm Branchipolynoe seepensis, and (2) three different species of shrimps and the crab Segonzacia mesatlantica. No evidence of Hg biomagnification in either of the vent food chains is clearly observed but an increase in Hg accumulation from prey to predator in the crustacean food chain. The same pattern was observed for Cu and Zn, even though these metals are not known to be generally biomagnified in food chains.

Animals↗

Chronic exposure to volcanic environments and chronic bronchitis incidence in the Azores, Portugal.

The village of Furnas, like other active volcanic areas in the world, exhibits high levels of hazardous gases. We aimed to investigate the existence of a possible association between chronic exposure to volcanic sulfur gases and chronic bronchitis. To investigate this, we used two populations, one exposed to active manifestations of volcanism (Furnas) and another from an area where no volcanic activity took place for over three million years (Santa Maria), both in the Azores. We used data on the incidence of chronic bronchitis among both populations (1991-2001), obtained from the records of each local health center, and population denominators from censuses carried out in 1991 and 2001, using five age-groups. We also estimated relative risks and mean annual age-standardized rates of chronic bronchitis incidence. Incidence rates were extremely higher in the volcanically active area for both sexes, and especially in the youngest groups. Accordingly, the risk of chronic bronchitis for the people living in the volcanically active area was extremely higher (males RR=3.99; females RR=10.74) when compared to those living in the volcanically inactive area. Comparison of chronic bronchitis incidence rates between both populations suggests an association between this disease and the chronic exposure to the volcanically active environment, with all its hazardous gases like hydrogen sulfide and sulfur dioxide. These findings may help health officials to better advice people inhabiting volcanic areas, or others with high levels of sulfur gases, on how to prevent and minimize the risks of chronic bronchitis.

Adolescent↗

Chemical polymorphism of the essential oils from populations of Thymus caespititius grown on the island S. Jorge (Azores).

The compositions of the essential oils obtained from ten populations of Thymus caespititius grown on S. Jorge (Azores) were studied by GC and GC-MS. All the oils analysed were dominated by their monoterpene fraction (69-9%). The sesquiterpene fraction was rather small (4-17%) and consisted mainly of oxygen-containing compounds (3-13%). Enantiomeric ratio of sabinene and alpha-terpineol was investigated in the oils from some populations. (+)-Sabinene was detected with high enatiomeric purity (96 99%). Although ( +)-alpha terpineol was the predominant enantiomer, its purity varied considerably (66-97%). Cluster analysis of all identified components grouped the oils into four main clusters that corresponded with their major components: alpha-terpineol (43-68%), carvacrol (32-52%), thymol (44-58%) and sabinene (41%). The essential oil from Th. caespititius showed a clear chemical polymorphism, that was particularly evident among four populations growing along a 200 m distance at Pico Verde.

Gas Chromatography-Mass Spectrometry↗

Trace element status (Se, Cu, Zn) and serum lipid profile in Portuguese subjects of San Miguel Island from Azores'archipelago.

Data on selenium, copper and zinc in serum of Portuguese inhabitants of the city of Ponta Delgada-Azores Archipelago are reported for the first time. The subjects are of both sexes, aged 20 to 60 years, and non-abusers of alcohol, tobacco or drugs. Serum concentrations of these elements are in the same range than those found for populations of Lisbon and of some other European countries. Differences between sexes are observed, with serum selenium and zinc levels being higher in males than in females, and the copper levels being higher in females as compared to males. These results can be explained by the hormonal status and/or oral contraceptive steroids intake, particularly for copper. Concerning lipid profile, the majority of individuals have serum lipid parameters within the normal range. In addition, no difference in trace element levels between normo and hyperlipidemic individuals is observed and no conclusive results about the relationship of all evaluated parameters to alcohol, tobacco and drug consumption are observed, in agreement with data obtained in the population of Lisbon.

Adult↗

Whole blood glutathione peroxidase and erythrocyte superoxide dismutase activities, serum trace elements (Se, Cu, Zn) and cardiovascular risk factors in subjects from the city of Ponta Delgada, Island of San Miguel, The Azores Archipelago, Portugal.

Activities of whole blood glutathione peroxidase (GSH-Px) and erythrocyte superoxide dismutase (SOD) and serum levels of selenium (Se), copper (Cu) and zinc (Zn) were measured in 118 apparently healthy subjects aged 20-60 years from the city of Ponta Delgada, Island of San Miguel, The Azores Archipelago, Portugal. Data were analysed by age/gender, lipid profile and blood pressure as cardiovascular risk factors searching for their relevance when assessing reference values for antioxidant biomarkers. GSH-Px was in the same range, but SOD was significantly lower than in other Portuguese populations. Neither activity differed with gender. GSH-Px activity increased with age, namely in normolipidemic men versus the hyperlipidemic group in which a decrease was observed. This suggests a progressive impairment of GSH-Px with age caused by an enhanced production of oxidant species in hyperlipidemia. GSH-Px was 30% lower in male hypertensives versus normotensives. SOD activity did not relate to age or blood pressure but was 17% higher in the hyperlipidemic men versus the normolipidemic group, suggesting a better antioxidant protection by SOD than by GSH-Px in hyperlipidemia and hypertension. Se was higher in men versus women, particularly in the older subjects, and partly related to hyperlipidemia. Zn levels showed a similar dependency on gender, not related to age or lipid profile. Cu levels were much higher in women than in men in all age or lipid profile classes and decreased in hyperlipidemia. They were lowered with age in both genders, particularly in normolipidemic women. The present research therefore suggests that hyperlipidemia and hypertension do affect antioxidant status and should be considered when assessing antioxidant biomarkers in blood.

Adult↗

Tsp49I (ACGT/), a thermostable neoschizomer of the Type II restriction endonuclease MaeII (A/CGT), discovered in isolates of the genus Thermus from the Azores, Iceland and New Zealand.

One hundred and forty eight isolates of the genus Thermus, from neutral and alkaline hot water springs on four continents, have been screened for the presence of restriction endonuclease activity. An isolate (SM49) from the island of Sao Miguel, in the Azores, showed a high level of restriction endonuclease activity when a cell-free extract was incubated with lambda phage DNA at 65 degrees C. A Type II restriction endonuclease (Tsp49I) has been partially purified from this isolate and the recognition and cleavage site determined. Tsp49I recognizes the four base sequence ACGT, which is the same as the recognition sequence of the mesophilic Type II restriction endonuclease MaeII. However, unlike MaeII, which cleaves DNA between the first and second bass of the recognition sequence (A/CGT), Tsp49I hydrolyses the phosphodiester bond in both strands of the substrate after the last base of the recognition sequence 5'-ACGT/-3', producing four base 3'-OH overhangs (sticky ends). The enzyme has a pH optimum of 9.0, requires 2 mM MgCl2 for maximum activity and retains full enzyme activity following incubation for 10 min at temperatures up to 8O degrees C. Two further examples of the same restriction endonuclease specificity as Tsp491 were detected in Thermus isolates from Iceland (TspIDSI) and New Zealand (TspWAM8AI). The three MaeII neoschizomers, Tsp49I, TspIDSI and TspWAM8AI, exhibit similar pH optima, heat stabilities and MgCl2 requirements, but differ in their requirements for NaCl and KCl.

Bacteriophage lambda↗

Pithomycotoxicosis (facial eczema) in ruminants in the Azores, Portugal.

Outbreaks of pithomycotoxicosis (facial eczema), a hepatogenous photosensitisation caused by the mycotoxin sporidesmin, have affected ruminants in the Azores Islands of Portugal after warm, humid periods during late summer and autumn. Twenty-two outbreaks were recorded in cattle between 1999 and 2001, affecting 11.4 per cent of the animals in the affected herds, and in 2000 there was an outbreak in one sheep flock in which more than 20 per cent of the sheep died. The clinical signs included decreases in milk production, weight loss, photosensitisation and its sequelae, including death. The animals had high activities of gamma glutamyltransferase in their serum, and icterus and severe liver disease, including biliary hyperplasia and fibrosis, were found postmortem. The characteristic spores of the toxigenic saprophytic fungus Pithomyces chartarum were found on grass; all 381 isolates of the fungus were toxigenic for sporidesmin by elisa, and the results were confirmed by high-performance liquid chromatography analysis. Cattle from farms at greatest risk of pithomycotoxicosis were protected by supplementing their concentrate feed with zinc oxide, or using a slow-release intraruminal zinc bolus.

Animals↗

[Nuptiality and fertility differentials. Behavioral changes in the last three centuries. The case of Sul do Pico (Azores)].

"Through the application of...'parish reconstitution' differentials in demographic conducts are analysed. Those behaviours are related with marriage rate and fertility manifested in the population of Sul do Pico (Azores) during the last 3 centuries. Results show the existence of differences between 'the new' and 'the old' rural areas." (SUMMARY IN ENG AND FRE AND SPA)

Demography↗

Geography of surnames in the Azores: specificity and spatial distribution analysis.

In order to obtain a better understanding of the genetic structure of the Azorean population, a specificity and spatial distribution analysis was performed, based on 2,454 different surnames present in the Azorean telephone directory (2002). We considered as specific surnames those with an absolute frequency ratio equal to or higher than 50%. The results revealed 51 specific surnames in the whole archipelago. The smallest island presents the only surname with 100% specificity (Pedras). In addition, São Miguel island, which contains 54% of the Azorean population, has the highest number of specific surnames (25 specific surnames). The spatial distribution analysis was used to detect genetic similarity between municipalities through the calculation of spatial autocorrelation (Moran's I coefficient). Of 240 surnames included in the analysis, 113 showed statistically significant patterns. Five different patterns were obtained, of which the most relevant was isolation by distance and depression (41.6%). However, 43.4% had no defined pattern. The overall correlogram shows a majority of positive values for distances lower than 49 km and between 269-309 km, indicating high similarity between closer municipalities and between distant municipalities whose populations show historic and sociocultural affinities. In conclusion, our data are in agreement with the historical background of the Azorean population.

Azores↗