Subclades of the Y-chromosome haplogroup R1b-M269 in Portuguese samples: F1343 as a common DF27 sublineage.

To determine the age- and sex-specific prevalence of early and late age-related macular degeneration (AMD) in two Portuguese population-based samples and to identify its risk factors. A population of 6023 adults aged ≥55years was recruited from two Portuguese primary healthcare units in the central region of Portugal - one from a coastal (n=3000) and another from an inland town (n=3023). Cross-sectional population-based study. Participants were enrolled in the two locations between August 2009 and October 2013. Responders underwent standardized interviews and ophthalmologic examination, including digital fundus imaging. All fundus photographs were graded according to an International Classification and Grading System. The main outcome measures consisted of age- and sex-adjusted prevalence of early and late AMD. Potential epidemiologic risk factors were also evaluated using logistic regression analysis. Of the 6023 subjects enrolled, 5996 had gradable fundus images and were included in the analysis. The crude prevalence of early and late AMD was 6.99 and 0.67%, respectively, for the coastal town and 15.39 and 1.29% for the inland town. Age- and sex-adjusted prevalence of any AMD for the Portuguese population was 12.48% (95% CI: 11.61-13.33) with late AMD accounting for 1.16% (95% CI: 0.85-1.46). Neovascular AMD (NV-AMD) and geographic atrophy (GA) accounted for 0.55% (95% CI: 0.36-0.75) and 0.61% (95% CI: 0.37-0.84) of individuals, respectively. After adjusting for possible confounding factors, prevalence of early and late AMD increased with increasing age (OR=1.35; 95% CI: 1.23-1.49 for early and OR=3.01; 95% CI: 2.22-4.08 for late AMD, per each decade of age increase, p<0.001). After adjustment for age, sex, family history, smoking history, hypertension, diabetes and BMI, subjects from the inland town presented a significantly higher OR of early and late AMD than subjects from the coastal town (OR=2.57, 95% CI: 2.12-3.12, p<0.001 for early and OR=2.06, 95% CI: 1.07-3.95, p=0.029 for late AMD). The prevalence of early and late AMD in this Portuguese population was similar to other large-scale population-based cohorts. After controlling for confounders, age and study site of inclusion were significant independent predictors for both early and late forms of the disease. Further analysis will be needed to completely unravel the underlying reasons for this difference regarding geographic location.

BackgroundSeveral studies have reported an association between single nucleotide polymorphisms in the first intron of the FTO gene and body mass index (BMI) or obesity. However, this association has not yet been studied among the Portuguese population. This study aims to assess the association of three FTO polymorphisms (rs1861868, rs1421085 and rs9939609) with obesity-related outcomes in a sample of Portuguese children.MethodsWe examined a total of 730 children, 256 normal-weight (55.9% girls), 320 overweight (45.3% girls) and 154 obese (53.2% girls), aging from 6 to 12-years-old, recruited randomly from public schools in the central region of Portugal. DNA samples were genotyped for the three polymorphisms by allelic discrimination TaqMan assay. Association of the FTO polymorphisms with several anthropometric traits was investigated. Additionally, we tested association with the risk of obesity using overweight and obese vs. normal-weight children.ResultsWe found significant associations of rs9939609 and rs1421085 polymorphisms with weight, BMI, BMI Z-score, waist circumference and hip circumference, even after age and gender adjustment (p<0.05 in all traits). For rs1861868 polymorphism, marginally significant associations were obtained with weight (p = 0.081) and BMI (p = 0.096) after adjustment for age and gender. In case-control studies, both rs9939609 and rs1421085 polymorphisms were significantly associated with obesity (OR 1.97; 95% CI, 1.08–3.59; p = 0.026; OR 2.11; 95% CI, 1.17–3.81; p = 0.013, respectively) but not with overweight (p>0.05). Haplotype analyses identified two combinations (ACA and GCA) associated with a higher risk of obesity (OR 1.53; 95% CI, 1.06–2.22; p = 0.023; OR 1.73; 95% CI, 1.06–2.87; p = 0.030, respectively).ConclusionsThis study provides the first evidence for the association of FTO polymorphisms with anthropometric traits and risk of obesity in Portuguese children.

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Ricardo JA, Simões JA, Santiago LM. Prevalence of chronic obstructive pulmonary disease in general practice patients in the Central Region of Portugal. Family Medicine & Primary Care Review. 2021;23(2):220-223. doi:10.5114/fmpcr.2021.105930. APA Ricardo, J., Simões, J., & Santiago, L. (2021). Prevalence of chronic obstructive pulmonary disease in general practice patients in the Central Region of Portugal. Family Medicine & Primary Care Review, 23(2), 220-223. https://doi.org/10.5114/fmpcr.2021.105930 Chicago Ricardo, Jéssica A, José A Simões, and Luiz M Santiago. 2021. "Prevalence of chronic obstructive pulmonary disease in general practice patients in the Central Region of Portugal". Family Medicine & Primary Care Review 23 (2): 220-223. doi:10.5114/fmpcr.2021.105930. Harvard Ricardo, J., Simões, J., and Santiago, L. (2021). Prevalence of chronic obstructive pulmonary disease in general practice patients in the Central Region of Portugal. Family Medicine & Primary Care Review, 23(2), pp.220-223. https://doi.org/10.5114/fmpcr.2021.105930 MLA Ricardo, Jéssica et al. "Prevalence of chronic obstructive pulmonary disease in general practice patients in the Central Region of Portugal." Family Medicine & Primary Care Review, vol. 23, no. 2, 2021, pp. 220-223. doi:10.5114/fmpcr.2021.105930. Vancouver Ricardo J, Simões J, Santiago L. Prevalence of chronic obstructive pulmonary disease in general practice patients in the Central Region of Portugal. Family Medicine & Primary Care Review. 2021;23(2):220-223. doi:10.5114/fmpcr.2021.105930.

Y chromosome SNP analysis in a Portuguese population sample using a multiplex PCR and minisequencing strategy

Simple SummaryThe production of small ruminant autochthonous breeds in the Centre region of Portugal is practiced under grazing, exposing animals to parasitic infections. The main objective of this study was to estimate the prevalence of lungworm parasitic infection and identify risk factors to define appropriate control measures. Fecal samples of 203 goats and 208 sheep from 30 herds, located in three districts in the Centre region of Portugal, were collected and analyzed. The overall prevalence of lungworm infection was 57.7%, significantly higher in goats (95.6%) than in sheep (20.7%). The risk of lungworm infection was 29.7, 7.4, or 8.7 times higher for sheep dewormed with albendazole, mebendazole plus closantel, or ivermectin plus clorsulon, respectively, than for those dewormed with eprinomectin. Additionally, the presence of gastrointestinal parasites was investigated in 307 fecal samples and an overall prevalence of infection of 86.3% was observed, also significantly higher in goats (93.2%) than in sheep (79.9%). Considering the high prevalence and the burden of lungworm parasitic infection, it is urgent to determine its economic impact and the repercussions in animal health in the Centre region of Portugal to establish appropriate therapeutic guidelines.The production of small ruminant autochthonous breeds in the Centre region of Portugal is practiced in a semi-extensive husbandry system, exposing animals to parasitic infections. The main objective of this study was to estimate the prevalence of lungworm infection and identify risk factors. Fecal samples of 203 goats and 208 sheep from 30 herds were collected per rectum and subjected to the modified Baermann test. The overall prevalence of infection was 57.7%, significantly higher in goats (95.6%) than in sheep (20.7%) (p < 0.001). According to the binary logistic regression model, sheep dewormed with albendazole, mebendazole plus closantel, or ivermectin plus clorsulon presented a risk of Protostrongylidae infection 29.702, 7.426, or 8.720 times higher, respectively, than those dewormed with eprinomectin. Additionally, the presence of gastrointestinal parasites was investigated in 307 fecal samples using Mini-FLOTAC®. The overall prevalence of infection was 86.3%, also significantly higher in goats (93.2%) than in sheep (79.9%) (p < 0.001). Strongyle-type eggs were the most frequently identified, both in sheep (69.8%) and goats (87.8%), followed by Eimeria oocysts (40.3% in sheep and 68.9% in goats). Considering the high prevalence and the burden of lungworm parasitic infection, it is urgent to determine its economic impact and the repercussions in animal health in the Centre region of Portugal to establish appropriate therapeutic guidelines.

MUC1 is a highly polymorphic mucin type glycoprotein expressed on the surface of many epithelia, including gastric mucosa, and is present in several body fluids and mucous secretions. A genetic polymorphism due to variation in length of a 60 bp tandemly repeated sequence domain constitutes more than half of the coding region of the glycoprotein. We demonstrated previously in a Portuguese population sample that the frequency of small MUC1 alleles is increased in patients with gastric carcinoma, suggesting that the possession of small MUC1 alleles confers increased risk for gastric carcinoma development. This finding raised the possibility that the very high prevalence of gastric carcinoma in Portugal could be partly due to a high frequency of small MUC1 alleles in the Portuguese population. In the present study we compared the MUC1 allele distribution in a population of Danish blood donors with the distribution in a population of Portuguese blood donors. The frequency of small MUC1 alleles was significantly higher in the Danish than in the Portuguese sample, thus failing to lend support to the hypothesis that a relatively higher frequency of the small MUC1 alleles might account for the high prevalence of gastric carcinoma in Portugal when compared to Denmark.

The early days of pandemic (H1N1) 2009 virus infection in the central region of Portugal

Measuring European Population Stratification with Microarray Genotype Data

Primary open-angle glaucoma is the most frequent subtype of glaucoma. Relatives of primary open-angle glaucoma patients have an increased risk of developing the disease, suggesting a genetic predisposition to the disease. MYOC was the first primary open-angle glaucoma-causing gene identified. This study aimed to identify sequence variations in the MYOC gene that may be responsible for the phenotype in a group of primary open-angle glaucoma patients from the Centre Region of Portugal. The three coding exons and the proximal splicing junctions of the MYOC gene were studied using a PCR sequencingapproach in a group of 99 primary open-angle glaucoma patients. The sequencing analysis enabled the identification of 20 variants, including four in the promoter region, seven in the introns and nine in exons one and three, of which four were missense variants. Initially, all four missense sequence variations identified were considered candidates to glaucoma causing disease mutations. However, after literature review, only variant c.1334C>T (Ala445Val) remained as likely responsible for mild late-onset normal tension glaucoma. This is the first study performed in a group of primary open-angle glaucoma patients from the Centre Region of Portugal,contributing to the identification of one genetic variant in the MYOC gene and reinforcing the hypothesis that normal tension glaucomacould be also due to MYOC gene mutations.

Introduction: Health Literacy (HL) of the patient's family member in palliative care is a growing concern for improving the care to be provided by professionals. Studies have shown an inadequate level of literacy in the Portuguese population. Objectives: To evaluate the HL level of family members of patients admitted to Palliative Care Units (PCU) and to analyze the relationship between HL and sociodemographic variables. Methods: Quantitative descriptive-correlational study with a non-probabilistic sample for convenience of 96 family members from the central region of Portugal. A questionnaire of sociodemographic data and application of the HLS-EU-PT was used, translated and validated in Portugal by Pedro et al (2014), which deals with 3 dimensions (HL for Health Care, HL for Disease Prevention and HL Health Promotion). Results: Family members, mostly women (67.7%), main caregivers (73.8%), aged ≤ 64 years (84.6%), grade kinship child (41.7%), living with partner (64.6%) and with children (56.3%). They live in urban areas (54.2%), with basic education and exercising their profession (61.5%). They have no experience in PC (90.6%) or in the health area (87.5%). Family members have a higher Literacy Index in Disease Prevention (M = 31.06 ± 9.59) and lower in Health Promotion (M = 26.57 ± 10.69). In all dimensions, the levels of Literacy are distributed between the Inadequate and the Problematic. Conclusions: The results revealed low levels of Health Literacy. Professionals, when planning Care for the patient and their family, should institute actions that promote their empowerment.

4g/5g Prevalence in 223 Patients with Thrombosis and in 162 Healthy Controls, from the Centre Region of Portugal.

Detection of the protease codon 35 amino acid insertion in sequences from treatment-naïve HIV-1 subtype C infected individuals in the Central Region of Portugal

Os dias iniciais da infecção pelo vírus da gripe pandémica (H1N1) 2009 na região centro de Portugal

The aim of this study is to adapt a Portuguese version of the original 18 items of the Bergen Facebook Addiction Scale (BFAS), via a translation / back translation process, using Confirmatory Factor Analysis (CFA) in a Portuguese sample. The sample comprised 232 respondents from the general population. The modified BFAS acquires a different factor structure from the original, keeping 4 of the main theoretical elements (subscales) and 10 of the 18 original items. The results indicate that the Portuguese version of the original BFAS presents good psychometric qualities. The statistical techniques used in the study allowed assessing the reliability and validity of the modified BFAS. Nevertheless, further uses of this scale with other samples from the Portuguese population are necessary to confirm the obtained results.

Medullary thyroid carcinoma (MTC) occurs both sporadically and in the context of autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), which are caused by activating germline mutations in the RET proto-oncogene. The aim of this study was to characterize the RET mutational spectrum in MEN2 families and apparently sporadic MTC (AS-MTC) cases originating from the central region of Portugal. We studied a total of 82 individuals (64 affected and 18 family members), comprising five MEN2 families (four MEN2A and one MEN2B), as well as 53 AS-MTC cases. RET germline mutations were screened using PCR-DNA sequencing, SSCP and RFLP. The haplotypes associated with recurrent mutations were determined by fragment analysis of microsatellite markers, and by RFLP, in the case of intragenic polymorphisms. Frequency of the Cys611Tyr (TGC-TAC) mutation was significantly increased in this region of Portugal, due to the fact that three apparently unrelated MEN2A/FMTC families, out of the five in which mutations were identified, harboured this specific mutation. Haplotype analysis revealed that a common haplotype was shared between two of these three families. We have also characterized a novel RET mutation, Arg886Trp, located in the tyrosine kinase domain, which was found in an AS-MTC case. There are regional specificities in the relative frequency of RET mutations, which are consistent with a cluster-like distribution of specific disease-causing mutations, as a result of the inheritance of a shared haplotype. These data, along with the finding of a novel RET mutation (Arg886Trp), have important implications towards facilitating and improving the molecular diagnosis of hereditary MTC on a regional basis.