Juniperus navicularis - a study of Portuguese population structure and fitness

Juniperus navicularis Gand. is a dioecious endemic conifer that constitutes the understory of seaside pine forests in Portugal, areas currently threatened by increasing urban expansion. The aim of this study is to assess the conservation status of previously known populations of this species located on its core area of distribution. The study was performed in south-west coast of Portugal. Three populations varying in size and pine density were analyzed. Number of individuals, population density, spatial distribution and individual characteristics of junipers were estimated. Female cone, seed characteristics and seed viability were also evaluated. Results suggest that J. navicularis populations are vulnerable because seminal recruitment is scarce, what may lead to a reduction of genetic variability due solely to vegetative propagation. This vulnerability seems to be strongly determined by climatic constraints toward increasing aridity. Ratio between male and female shrubs did not differ from 1:1 in any population. Deviations from 1:1 between mature and non-mature plants were found in all populations, denoting population ageing. Very low seed viability was observed. A major part of described Juniperus navicularis populations have disappeared through direct habitat loss to urban development, loss of fitness in drier and warmer locations and low seed viability. This study is the first to address J. navicularis conservation, and represents a valuable first step toward this species preservation. 

Next-Generation Sequencing of Hereditary Hemochromatosis-Related Genes: Novel Likely Pathogenic Variants Found in the Portuguese Population

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP gene (c.-25G>A). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.

Characterisation of the Lipid Profile of the Portuguese Population

Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important roles. The incidence rates of these diseases are increasing in developing countries as a result of the modification of lifestyles and increased prevalence of cardiovascular risk factors. Many independent cardiovascular risk factors could be modifiable, in contrast to the genetic risk factors. However, the associated risk of the genetic factors can be prevented if early identified, making genetic studies a priority in cardiovascular genetics research.

Characterisation of the lipid profile of the portuguese population

Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important role.

Perception of health benefits of dietary fibre among the Portuguese population

Introduction: Dietary iber (DF) has been part of human diet since ever, and its beneits for the human health have been well estab-lished and scientiically conirmed. Among these stand improved gastrointestinal functions, prevent cholesterol, diabetes or CVD. Objectives: To study the level of knowledge of people residing in Portugal about the health effects related to an adequate ingestion of DF. Methods: This is a descriptive cross-sectional study carried out on a non-probabilistic sample of 382 adults residing in Portugal. The questionnaire included a section about the socio-demographic characteristics (age, gender, level of education and living environ- ment) and another about the relation between dietary iber and possible beneicial effects to treat and prevent diseases. The data was treated using the SPSS software (V22). Results: The results allowed concluding that people were dif- ferently informed about the effects of DF in preventing and/or treating different diseases, being constipation the most recog- nized, followed in decreasing order by obesity, bowel cancer, cholesterol, cardiovascular diseases, diabetes and breast can- cer. The results also showed that signiicant differences were encountered between age groups for most of the diseases evalu- ated, but not between genders, levels of education or living en- vironments. Conclusions: Generally, it was concluded that the participants in this study were relatively well informed about the roles of DF in preventing and/or treating various diseases.

Health-related quality of life and determinant factors in celiac disease: a population-based analysis of adult patients in Spain

Background: Celiac disease (CD) has a negative impact on the health-related quality of life (HRQL) of affected patients. Although HRQL and its determinants have been examined in Spanish CD patients specifically recruited in hospital settings, these aspects of CD have not been assessed among the general Spanish population. Methods: An observational, cross-sectional study of a non-randomized, representative sample of adult celiac patients throughout all of Spain's Autonomous Regions. Subjects were recruited through celiac patient associations. A Spanish version of the self-administered Celiac Disease-Quality of Life (CD-QOL) questionnaire was used. Determinant factors of HRQL were assessed with the aid of multivariate analysis to control for confounding factors. Results: We analyzed the responses provided by 1,230 patients, 1,092 (89.2%) of whom were women. The overall mean value for the CD-QOL index was 56.3 ± 18.27 points. The dimension that obtained the most points was dysphoria, with 81.3 ± 19.56 points, followed by limitations with 52.3 ± 23.43 points; health problems, with 51.6 ± 26.08 points, and inadequate treatment, with 36.1 ± 21.18 points. Patient age and sex, along with time to diagnosis, and length of time on a gluten-free diet were all independent determinant factors of certain dimensions of HRQL: women aged 31 to 40 expressed poorer HRQL while time to diagnosis and length of time on a gluten-free diet were determinant factors for better HRQL scores. Conclusions: The HRQL level of adult Spanish celiac subjects is moderate, improving with the length of time patients remain on a gluten-free diet.

Next-generation sequencing of hereditary hemochromatosis-related genes: novel likely pathogenic variants found in the Portuguese population

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1GNC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5′-UTR of HAMP gene(c.-25GNA). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.

Pharmacogenetic: screening relevant polymorphisms on antiretroviral therapy in a HIV Portuguese population

Poster presented at the 15th European AIDS Conference. Barcelona, 21-24 October 2015

Relationship between menopause and periodontal disease: a cross-sectional study in a Portuguese population

Article published under a “Creative Commons Attribution Noncommercial License”, enabling the unrestricted non-commercial use, distribution, and reproduction of the published article in any medium, provided that the original work is properly cited.

Application of dental morphological characteristics for medical-legal identification: sexual diagnosis in a portuguese population

Licenced under a Creative Commons Attribution 3.0.

Systolic Blood Pressure and Its Determinants: Study in a Population Attending Pharmacies in a Portuguese Coastal City

Hypertension is a common condition causing cardio and cerebrovascular complications. Portugal has one of the highest mortality rates from stroke and a high prevalence of hypertension. Systolic Blood Pressure (SBP) is an important risk factor for cardiovascular events (myocardial infarction and stroke) and premature mortality, particularly in the elderly population. The present study aims to estimate the prevalence of hypertension in a Portuguese population living in a coastal city and to identify some of its determinants (namely gender, age, the body mass index and physical activity frequency). A total of 91 adults who attended three pharmacies of a coastal city in the center of Portugal, between May and August of 2013 were evaluated. Attendants who reported to have diabetes or taking antihypertensive drugs in the 2 previous weeks were excluded from the study. Sociodemographic factors, BMI, habits of exercise and BP were assessed. Hypertension was defined as blood pressure ≥140/90 mmHg. The majority of the studied population was constituted by women (75.8%), with a mean age of 54.2±1.6 years old, married or living in civil union and that had completed secondary school or had higher education (40%). They presented a mean BMI of 26.2±4.76 Kg/m2., and were sedentary. The mean BP was 127.0±17.77mmHg- 74.69 ± 9.53. In this population we found 4.3% of people with hypertension and 16.1% with normal high blood pressure. Men exhibit a tendency to present higher systolic blood pressure values than women. Of all the factors considered, SBP values also tended to be higher with age and higher BMI values. Despite the fact that the mean values of SBP did not present values higher than 140 mmHg we must be concerned because the studied population is undiagnosed for hypertension. Although this is a preliminary study, it might be a prelude to the upcoming research about the underlying factors responsible for the occurrence of SBP.

A century of trends in adult human height

Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.

Determinants of Sustainability e-reporting in Portuguese municipalities: an institutional and legitimacy theoretical framewor

This study aims to analyse the extent of online social responsibility (SR) information disclosure by Portuguese municipalities and to identify related determinant factors, based on Institutional Theory and Legitimacy Theories. A content analysis was performed on webpages from 60 sampled municipalities, and an information disclosure index was created.Descriptive statistics obtained indicate the Total Disclosure Index (TDI) value was 0.46. The Economic Information sub-category exhibits the highest value (0.66), followed by the Social and Environmental Information categories (0.61 and 0.36, respectively). The multivariate analysis results indicate that LA21 implementation the existence of tax burdens, the characterisation of a municipality as urban and environmental/SR certification application positively influence SR information disclosure. TDI is negatively affected by the existence of an inactive population (i.e. by the percentage of individuals ≤19 and ≥65 years of age).

Insights into population structure of Diplodus vulgaris along the SW Portuguese coast from otolith elemental signatures

The common two-banded sea bream (Diplodus vulgaris) is an important fish in the marine ecosystems of the NW Atlantic and Mediterranean. In southern Portugal it is a major fishery resource being targeted mainly by the artisanal fleets. Although there is some knowledge of the age, growth and reproductive biology of the species, information about its population structure is scarce and somewhat limited to the Mediterranean Sea. In this study the otolith elemental signatures of 90 specimens of D. vulgaris of the same age group (2+ years) and cohort collected from the important fishery regions of SW Portugal (Sesimbra, Sagres and Faro) have been analysed by inductively coupled plasma mass spectrometry (ICP-MS). Two different methodologies have been applied: solution based analysis of the whole otoliths; representative of the entire life-history prior to capture, and laser ablation analysis of otolith cores; representative of the larval and early post-settlement phase. Whole otolith comparisons utilised Sr/Ca, Ba/Ca, Mn/Ca, Li/Ca and Ni/Ca to demonstrate regional population structure. Classification accuracy rates from linear discriminant function analyses (LDFA) of whole otolith chemistry data were high for each region; Faro - 93%, Sagres - 90% and Sesimbra - 80%. Comparison of the otolith core chemistry utilised Sr/Ca, Ba/Ca, Mn/Ca and Mg/Ca and Zn/Ca. LDFA for the otolith core chemistry also achieved accurate classification for samples from Sesimbra (73%), but there was high overlap of otolith chemistry between samples from Faro and Sagres (47 and 43% classification accuracy respectively). The whole otolith results suggest that D. vulgaris are resident in the regional fishing areas during the juvenile phase. Both the core and whole otolith chemistry data supported separation of the Sesimbra fishery region from the more southern and closely associated Faro and Sagres regions for management purposes. However, while the whole otolith data indicated that the populations at Faro and Sagres likely remained separated in the juvenile stage, the otolith core chemistry data was inconclusive as to whether recruitment to these two areas was derived, or not, from different spawning areas.