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With the approval of Decree-Law 11/2023, of 10 February 2023, the Portuguese Government has simplified environmental licencing within the context of the SIMPLEX programme. The purpose of this Decree-Law is to strengthen Portugal's competitiveness and attract national and foreign investment, as well as accelerating the transformation measures required in a context of energy crisis. In this article, we present a brief description and analysis of the changes introduced in various legal provisions, with particular emphasis on the regulations applicable to the public authorities' activity, the regulations on environmental impact assessment, the environmental licencing regime and the legal regime of water resources. [ABSTRACT FROM AUTHOR]

Obligate coastline taxa generally occupy very limited areas, especially when there is a close affinity with a specific coast type. Climate change can be a meaningful threat for them, reducing suitable habitat or forcing migration events. Cistus ladanifer subsp. sulcatus is an endemic plant of Portugal, known to occur only in the top of its south-western coast's prominent cliffs. In spite of being included in the annexes II and IV of the European Habitats Directive of Natura 2000 Network, this taxon is still understudied, especially regarding the effects of climate change on its distribution. To overcome such gap, Maxent was used to model the current distribution of C. ladanifer subsp. sulcatus and project its future distribution considering different General Circulation Models, periods (2050 and 2070) and Representation Concentration Pathways (4.5 and 8.5). The results suggested an extensive range contraction in the future, and extinction is a possible scenario. The proximity to littoral cliffs is crucial for this plant's occurrence, but these formations are irregularly distributed along the coast, hindering range expansions, further inhibited by a small dispersal capacity. Cistus ladanifer subsp. sulcatus will probably remain confined to south-western Portugal in the future, where it will continue to face relevant threats like human activity, reinforcing the need for its conservation. [ABSTRACT FROM AUTHOR]

Although Muscat Blanc 'à petit grains' and Red Muscat grape varieties are both cultivated in the Douro Demarcated Region (Portugal), only Muscat Blanc is currently authorized for the production of the fortified wine 'Moscatel do Douro'. The aim of this study was to evaluate the potential of the Red Muscat grape variety to be employed in the winemaking of Douro Muscat wines. Wines of both grape varieties were produced from the 2013 and 2014 harvests, and were chemically and sensory analysed 12 and 3 months after stopping the alcoholic fermentation, respectively. The Muscat Blanc 'à petit grains' variety produced musts with higher sugar content than the red variety, but the final levels of sugar and ethanol were similar in all wines owing to the control of the fermentation time. Red Muscat wines presented higher concentrations of rose oxide and nerol than Muscat Blanc 'à petit grains'; however, these differences were only significant in the youngest wines. Linalool and α-terpineol were found at higher levels in the 2013 Muscat Blanc 'à petit grains' wines. No significant differences were found for the ester compounds, except for 2-phenylethanol, which was higher in the Red Muscat wines. The 12 months old wines presented a higher total concentration of esters than the younger wines. No significant differences were found for the higher alcohols composition between the two grape varieties. The chromatic analysis showed that, besides having a redder tone, Red Muscat wines had a higher colour intensity and a more pure/saturated colour than Muscat Blanc 'à petit grains' wines. The sensory analysis did not detect significant differences in the aromatic and gustatory profiles between the two grape varieties. The Red Muscat grape variety shows great potential to be employed in the production of Muscat fortified wine either as monovarietal or in blends with Muscat Blanc 'à petit grains'. [ABSTRACT FROM AUTHOR]

This article intends to describe the activity of Inteligência Competitiva (IC) in Portugal in the recent past. In order to better understand this activity, it is relevant to analyze a set of key factors with impact in the related activity, as well as the elements that fit it. A set of evidences are presented, enterprise, educative and literary, that help to point out the level of development of the activity in Portugal. The summarized description of four enterprise examples where the Inteligência Competitiva (IC) is used, allows to comprehend how the methodology is understood and exercised by different organizations. Finally, a set of possible scenarios are presented for the development of the Inteligência Competitiva (IC) in Portugal. These scenarios are fit by two dimensions: micro and macro, with different impacts in the future of the activity in the Portuguese territory. [ABSTRACT FROM AUTHOR]

In this work, X-ray fluorescence (XRF) and Laser-induced breakdown spectroscopy (LIBS) analyses were applied to samples of quartz, montebrasite, and turquoise hydrothermal veins in the Argemela Tin Mine (Central Portugal). Montebrasite (LiAl(PO4)(OH,F)) is potentially the main ore mineral; with its alteration, lithium (Li) can disseminate into other minerals. A hand sample was cut and analyzed by XRF and LIBS for several elements of interest including Cu, P, Al, Si, and Li. Although XRF cannot measure Li, results from its analysis are effective for distinguishing turquoise from montebrasite. LIBS analysis complemented this study, making it possible to conclude that turquoise does not contain any significant Li in its structure. The difference in spot size between the techniques (5 mm vs. 300 µm for XRF and LIBS, respectively) resulted in a poorer performance by XRF in accurately identifying mixed minerals. A thin section was petrographically characterized and mapped using LIBS. The mapping results demonstrate the possibility of the successful identification of minerals and their alterations on a thin section. The results of XRF analysis and LIBS mapping in petrographic sections demonstrate the efficacy of these methods as tools for element and mineral identification, which can be important in exploration and mining phases, complementing more traditional techniques. [ABSTRACT FROM AUTHOR]

Familial hemiplegic migraine (FHM) is a rare autosomal-dominant form of migraine with aura. Three disease-causing genes have been identified for FHM: CACNA1A, ATP1A2 and SCN1A. However, not all families are linked to one of these three genes.PRRT2 variants were also commonly associated with HM symptoms; therefore, PRRT2 is hypothesized as the fourth gene causing FHM. PRRT2 plays an important role in neuronal migration, spinogenesis, and synapse mechanisms during development and calcium-dependent neurotransmitter release. We performed exome sequencing to unravel the genetic cause of migraine in one family, and a novel PRRT2 variant (c.938C > T;p.Ala313Val) was identified with further functional studies to confirm its pathogenicity. PRRT2-A313V reduced protein stability, led to protein premature degradation by the proteasome and altered the subcellular localization of PRRT2 from the plasma membrane (PM) to the cytoplasm. We identified and characterized for the first time in a Portuguese patient, a novel heterozygous missense variant in PRRT2 associated with HM symptoms. We suggest that PRRT2 should be included in the diagnosis of HM., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

The Standardized Cosmesis and Health Nasal Outcomes Survey (SCHNOS) questionnaire is a tool developed to evaluate functional and aesthetic components of rhinoplasty. It is a reliable patient-reported outcome measure, not available in the European Portuguese language. Our goal was to translate and culturally adapt the SCHNOS questionnaire to the European Portuguese language. The questionnaire was forward and backward translated and culturally adapted to the European Portuguese language following international guidelines. The authors evaluated internal consistency, correlation, and reproducibility to determine the validity of the questionnaire. The final European Portuguese version of the SCHNOS was administered to 58 native European Portuguese speakers. Both the SCHNOS-O (obstructive) and SCHNOS-C (cosmetic) showed high internal consistency with Cronbach's α of 0.93 and 0.95, respectively. Also, for the entire SCHNOS, Cronbach's α was 0.96. All the items demonstrated good item-test and item-rest correlations with the differences between pre- and postestimates being nonsignificant. The translation, adaption, and validation of the SCHNOS into European Portuguese were successfully performed. This provides another tool to help evaluate the functional and aesthetic outcomes of rhinoplasty patients., Competing Interests: None declared., (Thieme. All rights reserved.)

Objective: To describe the average values of the nasal anthropometric measurements of Caucasian Mediterranean patients seeking rhinoplasty and evaluate the major nasal deformities., Design: Prospective, observational and cross-sectional study., Setting: Centro Hospitalar do Porto., Participants: A 100 Caucasian Mediterranean patients seeking rhinoplasty., Outcomes: Standardized photography was used to obtain nasal anthropometric measurements and to evaluate the major nasal defects. Data regarding age, gender, skin type and Fitzpatrick scale were also collected., Results: There was a statistically significant difference in the means values of palpebral fissure, intercanthal width, upper lip height, nasal root width, morphological nose width, nose height, nasal tip projection and nasofrontal-hump and nasofrontal-supratip angles between females and males. The major nasal deformity was dorsal hump (78.0%), followed by rinomegalia (53.0%) and boxy bulbous tip (47.0%)., Conclusion: The present study shows statistically significant gender differences between anthropometric nasal measurements and the mean values are greater than standard values obtained on general population. This might be one of the reasons why Caucasian Mediterranean patients seek aesthetical rhinoplasty. On both genders, dorsal hump, rinomegalia and boxy bulbous tip were the major nasal defects. This emphasize the importance of rhinoplasty techniques designed to reconstruct nasal dorsum and nasal tip on Caucasian Mediterranean patients. To the best of our knowledge, our study is the first study of digital anthropometric nasal analysis and evaluation of major nasal defects specifically in Caucasian Mediterranean patients who applied for rhinoplasty. With this results, we provide a reference material for the evaluation of the Caucasian and Mediterranean patient when planning a cosmetic nasal surgery., (© 2019 John Wiley & Sons Ltd.)

Introduction: The evaluation of surgical outcomes measured by patient satisfaction or quality of life is very important, especially in plastic surgery. There is increasing interest in self-reporting outcomes evaluation in plastic surgery., Objective: The aim of this study was to perform the translation, cross-cultural adaptation and validation of "The Utrecht questionnaire for outcome assessment in aesthetic rhinoplasty" from English to Portuguese., Methods: Retrospective study involving 50 patients undergoing to rhinoplasty comparing the preoperative period with the current postoperative situation (minimum 6 months and maximum 24 months postoperatively). Statistical analysis was performed to assess internal consistency, test-retest reliability, validity and responsiveness., Results: No patients received a negative score on the visual analogue scale comparing preoperative and postoperative appearance. The postoperative improvement on the visual analogue scale revealed a Gaussian curve of normal distribution with a mean improvement of 4.44 points. The test-retest reliability showed a positive correlation between the postoperative response and the same questionnaire repeated ninety-six hours later. The internal consistency was high (Cronbach's alpha value: Preoperative=0.88; Postoperative=0.86). The authors observed a significant improvement in response for all individual questions in the postoperative phase as compared with preoperative situation (t-student test - p<0.05)., Conclusion: The Portuguese version of "The Utrecht questionnaire for outcome assessment in aesthetic rhinoplasty" is a valid instrument to assess patients' outcomes following rhinoplasty surgery., (Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

Objective: Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. Age at onset (AO) ranges from 19 to 82 years, and variability exists mostly between generations. Unstable oligonucleotide repeats in various genes are the mechanism behind several neurological diseases, found also to act as modifiers for other disorders. Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families., Methods: We analyzed 329 Portuguese patients from 123 families. Repeat length (at ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1, HTT, JPH3, AR, and DMPK) was assessed by single and multiplex polymerase chain reaction, using fluorescently labeled primers, followed by capillary electrophoresis. We used a family-centered approach, and generalized estimating equations were used to account for AO correlation between family members., Results: For ATXN2, the presence of at least 1 allele longer than 22 CAGs was significantly associated with an earlier onset in TTR-FAP Val30Met, decreasing mean AO by 6 years (95% confidence interval = -8.81 to -2.19, p = 0.001). No association was found for the remaining repeat loci., Interpretation: Length of normal repeats at ATXN2 may modify AO in TTR-FAP Val30Met and may function as a risk factor. This can be due to the role of ATXN2 in RNA metabolism and as a modulator of various cellular processes, including mitochondrial stress. This may have relevant implications for prognosis and the follow-up of presymptomatic carriers. ANN NEUROL 2019;85:251-258., (© 2019 American Neurological Association.)

Introduction: The lack of tools for quality assessment of genetic counselling is recognized in national and international studies. The correlation of quality of healthcare practice with greater satisfaction of patients and affected families is also well established. The present study describes the development and validation of the first Portuguese scale for quality assessment of genetic counselling practice. It encompasses a proposal of a new tool for the evaluation of the process by professionals., Material and Methods: The definition of an initial pool of items and their organization was based on a literature review and identification of the main genetic counselling dimensions as well as the theoretical dimensions of the Reciprocal Engagement Model. After a pre-test validation the scale was submitted to psychometric validation using a sample of 30 participants who evaluated 81 genetic counselling sessions., Results: Based on statistical and empirical criteria the best items were selected. The final 50 items- version comprises five dimensions: education, counselees' characteristics and decision-making, therapeutic relationship, effects of the process on the counselees and services organization., Discussion: Results showed consistent psychometric properties of the scale supported on theoretical and practice concepts of genetic counseling. The reduced number of participants involved in psychometric validation is a limitation of the study, which reflected the reduced number of professionals in genetic healthcare services., Conclusion: The scale proposed at this study is a novel and multidimensional instrument that aimed to contribute to the improvement of genetic counselling practice in Portugal.

Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals. A clinical genetic study at a referral center comprising a sample of 910 Portuguese individuals includes 589 Val30Met carriers, 102 spouses, and 189 controls from the general population. Haplotype analysis was performed, using eight intragenic single nucleotide polymorphisms (SNPs) at the TTR locus. We compared haplotypes frequency in FAP samples and controls and in parent-offspring pairs using appropriated statistical analysis. Haplotype A was the most common in the general population. Noteworthy, haplotype C was more frequent in early-onset (<40) than in late-onset patients (≥50 years) (p = 0.012). When comparing allelic frequencies of each SNP within haplotype C between "very early" (≤30 years) and late-onset (≥50 years) cases, the A allele of rs72922947 was associated with an earlier onset (p = 0.009); this remained significant after a permutation-based correction. Also, the heterozygous genotype (GA) for this SNP was associated with a decrease in mean age at onset of 8.6 years (p = 0.014). We found a more common haplotype (A) linked to the Val30Met variant and a possible modulatory trans effect on age at onset. These findings may lead to potential therapeutical targets.