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- Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations*Publication . Onoufriadis, A.; Cabezas, A.; Ng, J. C. F.; Canales, J.; Costas, M. J.; Ribeiro, J. M.; Rodrigues, J. R.; McAleer, M. A.; Castelo‐Soccio, L.; Simpson, M. A.; Fraternali, F.; Irvine, A. D.; Cameselle, J. C.; McGrath, J. A.Background: Loose anagen hair is a rare form of impaired hair anchorage in which anagen hairs that lack inner and outer root sheaths can be gently and painlessly plucked from the scalp. This condition usually occurs in children and is often self-limiting. A genetic basis for the disorder has been suggested but not proven. A better understanding the aetiology of loose anagen hair may improve prevention and treatment strategies. Objectives: To identify a possible genetic basis of loose anagen hair using next-generation DNA sequencing and functional analysis of variants identified. Methods: In this case study, whole-exome sequencing analysis of a pedigree with one affected individual with features of loose anagen hair was performed. Results: The patient was found to be compound heterozygous for two single-nucleotide substitutions in TKFC resulting in the following missense mutations: c.574G> C (p.Gly192Arg) and c.682C> T (p.Arg228Trp). Structural analysis of human TKFC showed that both mutations are located near the active site cavity. Kinetic assays of recombinant proteins bearing either of these amino acid substitutions showed almost no dihydroxyacetone kinase or D-glyceraldehyde kinase activity, and FMN cyclase activity reduced to just 10% of wildtype catalytic activity. Conclusions: TKFC missense mutations may predispose to the development of loose anagen hairs. Identification of this new biochemical pathobiology expands the metabolic and genetic basis of hypotrichosis.
- Bioactive Electrospun Fibers of Poly(ε-Caprolactone) Incorporating α-Tocopherol for Food Packaging ApplicationsPublication . Dumitriu, Raluca P.; Stoleru, Elena; Mitchell, Geoffrey R.; Vasile, Cornelia; Brebu, MihaiAntioxidant activity is an important feature for food contact materials such as packaging, aiming to preserve freshness and retard food spoilage. Common bioactive agents are highly susceptible to various forms of degradation; therefore, protection is required to maintain functionality and bioavailability. Poly(ε-caprolactone) (PCL), a biodegradable GRAS labeled polymer, was used in this study for encapsulation of α-tocopherol antioxidant, a major component of vitamin E, in the form of electrospun fibers. Rheological properties of the fiber forming solutions, which determine the electrospinning behavior, were correlated with the properties of electrospun fibers, e.g., morphology and surface properties. Interactions through hydrogen bonds were evidenced between the two components. These have strong effect on structuration of macromolecular chains, especially at low α-tocopherol amounts, decreasing viscosity and elastic modulus. Intra-molecular interactions in PCL strengthen at high α-tocopherol amounts due to decreased solvation, allowing good structural recovery after cease of mechanical stress. Morphologically homogeneous electrospun fibers were obtained, with ~6 µm average diameter. The obtained fibers were highly hydrophobic, with fast release in 95% ethanol as alternative simulant for fatty foods. This induced good in vitro antioxidant activity and significant in vivo reduction of microbial growth on cheese, as determined by respirometry. Therefore, the electrospun fibers from PCL entrapping α-tocopherol as bioactive agent showed potential use in food packaging materials.
- Climate control of terrestrial carbon exchange across biomes and continentsPublication . Yi, Chuixiang; Ricciuto, Daniel; Li, Runze; Wolbeck, John; Xu, Xiyan; Nilsson, Mats; Aires, Luis; Albertson, John D.; Ammann, Christof; Arain, M. Altaf; Araujo, Alessandro C. de; Aubinet, Marc; Aurela, Mika; Barcza, Zoltán; Barr, Alan; Berbigier, Paul; Beringer, Jason; Bernhofer, Christian; Black, Andrew T.; Bolstad, Paul V.; Bosveld, Fred C.; Broadmeadow, Mark S. J.; Buchmann, Nina; Burns, Sean P.; Cellier, Pierre; Chen, Jingming; Chen, Jiquan; Ciais, Philippe; Clement, Robert; Cook, Bruce D.; Curtis, Peter S.; Dail, D. Bryan; Dellwik, Ebba; Delpierre, Nicolas; Desai, Ankur R.; Dore, Sabina; Dragoni, Danilo; Drake, Bert G.; Dufrêne, Eric; Dunn, Allison; Elbers, Jan; Eugster, Werner; Falk, Matthias; Feigenwinter, Christian; Flanagan, Lawrence B.; Foken, Thomas; Frank, John; Fuhrer, Juerg; Gianelle, Damiano; Goldstein, Allen; Goulden, Mike; Granier, Andre; Grünwald, Thomas; Gu, Lianhong; Guo, Haiqiang; Hammerle, Albin; Han, Shijie; Hanan, Niall P.; Haszpra, László; Heinesch, Bernard; Helfter, Carole; Hendriks, Dimmie; Hutley, Lindsay B.; Ibrom, Andreas; Jacobs, Cor; Johansson, Torbjörn; Jongen, Marjan; Katul, Gabriel; Kiely, Gerard; Klumpp, Katja; Knohl, Alexander; Kolb, Thomas; Kutsch, Werner L.; Lafleur, Peter; Laurila, Tuomas; Leuning, Ray; Lindroth, Anders; Liu, Heping; Loubet, Benjamin; Manca, Giovanni; Marek, Michal; Margolis, Hank A.; Martin, Timothy A.; Massman, William J.; Matamala, Roser; Matteucci, Giorgio; McCaughey, Harry; Merbold, Lutz; Meyers, Tilden; Migliavacca, Mirco; Miglietta, Franco; Misson, Laurent; Mölder, Meelis; Moncrieff, John; Monson, Russell K.; Montagnani, Leonardo; Montes-Helu, Mario; Moors, Eddy; Moureaux, Christine; Mukelabai, Mukufute M.; Munger, J. William; Myklebust, May; Nagy, Zoltán; Noormets, Asko; Oechel, Walter; Oren, Ram; Pallardy, Stephen G.; Paw U, Kyaw Tha; Pereira, João S.; Pilegaard, Kim; Pintér, Krisztina; Pio, Casimiro; Pita, Gabriel; Powell, Thomas L.; Rambal, Serge; Randerson, James T.; von Randow, Celso; Rebmann, Corinna; Rinne, Janne; Rossi, Federica; Roulet, Nigel; Ryel, Ronald J.; Sagerfors, Jorgen; Saigusa, Nobuko; Sanz, María José; Mugnozza, Giuseppe-Scarascia; Schmid, Hans Peter; Seufert, Guenther; Siqueira, Mario; Soussana, Jean-François; Starr, Gregory; Sutton, Mark A.; Tenhunen, John; Tuba, Zoltán; Tuovinen, Juha-Pekka; Valentini, Riccardo; Vogel, Christoph S.; Wang, Jingxin; Wang, Shaoqiang; Wang, Weiguo; Welp, Lisa R.; Wen, Xuefa; Wharton, Sonia; Wilkinson, Matthew; Williams, Christopher A.; Wohlfahrt, Georg; Yamamoto, Susumu; Yu, Guirui; Zampedri, Roberto; Zhao, Bin; Zhao, XinquanUnderstanding the relationships between climate and carbon exchange by terrestrial ecosystems is critical to predict future levels of atmospheric carbon dioxide because of the potential accelerating effects of positive climate-carbon cycle feedbacks. However, directly observed relationships between climate and terrestrial CO2exchange with the atmosphere across biomes and continents are lacking. Here we present data describing the relationships between net ecosystem exchange of carbon (NEE) and climate factors as measured using the eddy covariance method at 125 unique sites in various ecosystems over six continents with a total of 559 site-years. We find that NEE observed at eddy covariance sites is (1) a strong function of mean annual temperature at mid- and high-latitudes, (2) a strong function of dryness at mid- and low-latitudes, and (3) a function of both temperature and dryness around the mid-latitudinal belt (45°N). The sensitivity of NEE to mean annual temperature breaks down at ∼16 ®C (a threshold value of mean annual temperature), above which no further increase of CO,.2uptake with temperature was observed and dryness influence overrules temperature influence.
- Commingled and disarticulated human remains related to 1755 Lisbon earthquake: Height estimation from incomplete and complete femoral bonesPublication . Matos, Sofia; Flamino, Carolina Barroso; Borges, Guilherme; Francisco, Inês; Tropa, Madalena; Cruz, Tiago; Bento, Beatriz; Santos, Rui; Pereira, Cristiana PalmelaIntroduction: In Forensic Medicine, the estimation of the stature often has a crucial role in the reconstruction phase of disjointed populations. The femur, being the longest bone in the human body, is usually the most reliable source in height estimation. However, in these populations, intact femurs are hardly ever found, making it necessary to use femur fragments for the same purpose. Aim: This investigation aims to estimate the stature of the catastrophic population concerning the earthquake that occurred in Lisbon, in 1755. Materials and Methods: The study was conducted on 8 whole femurs and 21 fragments, which were measured and weighted. These measurements were applied in a regression formula, obtained from the gathered research, in order to estimate the stature of the population. Results: The results showed that, for the whole femur, the corresponding height varies between 147.96 cm and 168.82 cm. For the fragments, the obtained estimates vary between 151.96 cm and 174.96 cm. Conclusion: The methods used proved to be reliable in estimating the length of the femur, as well as in deducting the height of individuals through this bone, allowing the study of these parameter's evolution in generations.
- Cut-off for the legal ages in the Portuguese Population by Third Maturity Index: Measures of AccuracyPublication . Pereira, Cristiana Palmela; Rodrigues, Ana; Santos, Adriana; Salvado, Francisco; Santos, Rui; Cameriere, RobertoObjectives: The aim of this study is to estimate the cut-off points for the Portuguese legal ages through the I3M, and to compare them with the methods of Demirjian, Nolla and Moorrees. Design: The lower third molars were analyzed on 348 orthopantomography's aged between 12 and 23 years in a Portuguese Population. The images were analyzed by ImageJ and the cut-off points were calculated for the respective legal ages of 14, 16, 18 and 21 years old. Results: The correlation between age and the I3M was 0.862, whereas with Demirjian's stadiums, Nolla's stages, and Moorrees’ stages the correlation coefficients were 0.863, 0.842 and 0.844, respectively. For the cut-off point of 0.08 for the age of 18, a sensitivity of 78.99 %, specificity of 93.48 %, an accuracy of 88.54 %, a positive predictive value of 86.24 % and a posteriori Bayes probability of 92.82 %. The cut-off points established for the ages of 14, 16, 18 and 21 years for the Portuguese population achieved an accuracy of 83.67 %, 85.67 %, 88.54 % and 87.11 %, respectively. Conclusion: Demirjian's method and Cameriere's method attain quite similar results. In certain ages, the methods of Nolla and Moorrees show higher sensitivity or higher specificity when compared to Cameriere's method, however this last method is more stable in terms of reliability and more suitable to use in the Portuguese population.
- Dental Age Assessment by I2M and I3M: Portuguese Legal Age Thresholds of 12 and 14 Year OldsPublication . Augusto, Diana; Pereira, Cristiana Palmela; Rodrigues, Ana; Cameriere, Roberto; Salvado, Francisco; Santos, RuiObjective: Better understanding of dental age assessment may help in cases of age estimation in Forensic Clinics. The first aim was to provide essential information on method reliability for upcoming studies using dental age assessment by second molar index (I2M), and third molar index (I3M) for age estimation on legal ages of 12 - 14 years. The second aim was to document forensic method outcomes of the Demirjian method which has already been used in forensic clinic. Material and methods: Two samples were used for this purpose: for I2M, 633 orthopantomographs (270 females / 363 males), the age range from 7 to 17 years and for I3M, 471 orthopantomographs (253 females / 218 males), the age range from 10 to 23 years, from the database population of Lisbon North University Hospital Center, approved by the Ethic Committee. Results: The I3M cut-off point (1.133) for 12- year-olds obtained better results than the cut-off point stated by the I2M (0.135). Besides, I2M cut-off point (0.001) for 14- year- olds showed better results when compared with the cut-off point (0.705) established by the I3M. Both methods are reliable for the legal age thresholds of 12 and 14 years. However, using I2M and I3M allows us to vary the cut-off value to privilege sensitivities or specificity, depending on which is more appropriate to the intended application. Conclusions: The accuracy (88.94%) of I3M obtained better results for the 12- year- old cut-off point (1.133) and the accuracy (90.21%) of the I2M performed better for the 14- year- old cut-off point (0.001).
- Dermoscopic skin lesion image segmentation based on Local Binary Pattern Clustering: Comparative studyPublication . Pereira, Pedro M. M.; Fonseca-Pinto, Rui; Paiva, Rui Pedro; Assuncao, Pedro A. A.; Tavora, Luis M. N.; Thomaz, Lucas A.; Faria, Sergio M. M.Accurate skin lesion segmentation is important for identification and classification through computational methods. However, when performed by dermatologists, the results of clinical segmentation are affected by a certain margin of inaccuracy (which exists since dermatologist do not delineate lesions for segmentation but for extraction) and also significant inter- and intra-individual variability, such segmentation is not sufficiently accurate for segmentation studies. This work addresses these limitations to enable detailed analysis of lesions’ geometry along with extraction of non-linear characteristics of region-of-interest border lines. A comprehensive review of 39 segmentation methods is carried out and a contribution to improve dermoscopic image segmentation is presented to determine the regions-of-interest of skin lesions, through accurate border lines with fine geometric details. This approach resorts to Local Binary Patterns and k-means clustering for precise identification of lesions boundaries, particularly the melanocytic. A comparative evaluation study is carried out using three different datasets and reviewed algorithms are grouped according to their approach. Results show that algorithms from the same group tend to perform similarly. Nevertheless, their performance does not depend uniquely on the algorithm itself but also on the underlying dataset characteristics. Throughout several evaluations, the proposed Local Binary Patterns method presents, consistently, better average performance than the current state-of-the-art techniques across the three different datasets without the need of training or supervised learning steps. Overall, apart from presenting a new segmentation method capable of outperforming the current state-of-the-art, this paper provides insightful information about the behaviour and performance of different image segmentation algorithms.
- Experimental measurement of the mobilities of atomic, Ne+, and dimer, Ne2+, ions in NePublication . Garcia, A. N. C.; Trindade, A. M. F.; Oliveira, T. D. P.; Neves, P. N. B.; Barata, J. A. S.; Távora, L. M. N.; Dias, T. H. V. T.; Borges, F. I. G. M.; Conde, C. A. N.We measured the reduced mobilities of the atomic, Ne+, and dimer, Ne2+, ions in Ne, under different pressures and reduced electric fields, at 300 K. The value obtained for the atomic ion, 4.1 cm2V1 s1, is in good agreement with other values published in the scientific literature. The value obtained for the mobility of the dimer ion, 7.3 cm2 V1 s1, is not in accordance with other published data. We discuss the most probable sources of error.
- Lichen planus and its therapeutic management: a retrospective studyPublication . Rebelo, Mariana Rodrigues; Pereira, Cristina Palmela; Santos, Rui Sousa; Soares-de-Almeida, Luís; Filipe, PauloObjectives: To study the epidemiological distribution of the disease lichen planus and its therapeutic management. Methods: A total of 174 patients with a lichen planus diagnosis between 2008 and 2017 at a Portuguese public hospital were included in this retrospective study. The following data were collected from clinical records: gender, age, topographic distribution of lesions, prescribed therapy (active substance, route, and scheme of administration), mean duration of illness, and episodes of cure and relapse. Statistical analysis was performed using IBM® SPSS® Statistics software, version 25. Results: In this population, lichen planus affected both genders with the same probability (p=0.820), and was more prevalent in the 4th-5th decades of age. The lesions appeared in the skin (75.9% of the patients), mucous membranes (5.2%), or both (19.0%). The most prescribed drugs were corticosteroids, followed by antihistamines and immunosuppressants. Topical corticosteroids were the most common ones, namely clobetasol propionate (37.4%). Within the systemic corticosteroids, prednisolone was the most prescribed drug (12.3%). The average duration of lesions and symptoms was approximately 6.5 months. For the relapsing population (12%), the mean period of symptoms’ remission was 513 days. Conclusions: The epidemiological parameters of lichen planus in these Portuguese patients bear similarities with other described populations. No evidence-based therapeutic has proven to be effective for lichen planus treatment, but topical corticosteroids continue to be the first-line therapy for this pathology.
- A Mechanism for Verifying the Integrity and Immutability of Tuberculosis Data Using IOTA Distributed Ledger TechnologyPublication . Lima, Vinícius; Bernardi, Filipe; Rijo, Rui; Ueyama, Jó; Alves, DomingosBackground: Intensified research and innovation and rapid uptake of new tools, interventions, and strategies are crucial to fight Tuberculosis, the world's deadliest infectious disease. The sharing of health data remains a significant challenge. Data consumers must be able to verify the consistency and integrity of data. Solutions based on distributed ledger technologies may be adequate, where each member in a network holds a unique credential and stores an identical copy of the ledger and contributes to the collective process of validating and certifying digital transactions. Objectives: This work proposes a mechanism and presents a use case in Digital Health to allow the verification of integrity and immutability of TB electronic health records. Methods: IOTA was selected as a supporting tool due to its data immutability, traceability and tamper-proof characteristics. Results: A mechanism to verify the integrity of data through hash functions and the IOTA network is proposed. Then, a set of TB related information systems was integrated with the network. Conclusion: IOTA technology offers performance and flexibility to enable a reliable environment for electronic health records.