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RESUMO Objetivo O estudo teve como objetivos o desenvolvimento e validação de conteúdo de um Programa de Intervenção em Processamento Auditivo, destinado a crianças em idade escolar, com perturbação do processamento auditivo, falantes do português europeu. Método A primeira etapa consistiu no desenvolvimento do programa e respetivo manual de instruções, que inclui objetivos, atividades, procedimentos, materiais, reforços, instruções e estímulos verbais utilizados, para as competências auditivas de discriminação auditiva, atenção auditiva, memória auditiva, fechamento, figura-fundo; separação binaural, integração binaural e fusão binaural; a segunda etapa consistiu na validação de conteúdo, por dois painéis de peritos que analisaram o programa, através de um questionário. A validade de conteúdo foi calculada usando o índice de validade de conteúdo. Resultados A avaliação do programa revela uma excelente validade de conteúdo. Alguns itens foram modificados depois da análise dos comentários e sugestões dos peritos (ex: instruções, desníveis de intensidade, personagem principal). Conclusão O estudo permitiu o desenvolvimento e validação de um programa de intervenção em processamento auditivo, com estímulos verbais, selecionados de acordo com critérios linguísticos rigorosos. Futuramente, está prevista a realização de estudos de aceitabilidade e eficácia do programa junto da população alvo. ABSTRACT Purpose The study aimed at the development and content validation of an Auditory Processing Intervention Program for school-aged European Portuguese speaking children with Auditory Processing Disorder. Methods The first step was the program’s development and its instructions manual, which includes objectives, activities, procedures, materials, reinforcement, instructions, and verbal stimuli used, for the following auditory skills: auditory discrimination, auditory attention; auditory memory; auditory closure; figure-ground; auditory separation; auditory integration; binaural fusion; content validation was performed next, with two expert panels analyzing the program, through the use of a questionnaire. Content validity was calculated using the content validity index. Results Program evaluation shows an excellent content validity. Some items were modified after analyzing the experts’ comments and suggestions (e.g. instructions, intensity differences, main character). Conclusion This work allowed the development and content validation of an auditory processing intervention program, with verbal stimuli, selected according to strict linguistic criteria. In the future, the acceptability and efficacy of this program with the target population should be analyzed.

Haematopoietic stem cell transplantation (HSCT) is a therapeutic option for numerous haematologic diseases and solid tumours. Increasing indications for HSCT and reduction in associated mortality have been raising the number of paediatric HSCT survivors and their long-term toxicities.To characterize the endocrine disorders developed after HSCT.Retrospective analysis of 152 patients submitted to HSCT in paediatric age with at least 24 months of follow-up at our endocrine late-effects clinics.Patients were followed up for 9.9 (interquartile range [IQR]: 12.2) years. The median age at HSCT was 7.5 (IQR: 9) years. At least one endocrine complication was observed in 65.1% of the patients. Primary hypogonadism was detected in 34.2%. Female gender (p .001), HSCT 10 years old (p = .01) and chemotherapy before HSCT (p .001) were identified as risk factors for developing gonadal dysfunction. Growth hormone deficiency (GHD) occurred in 23.0% with a mean stature Z-score at diagnosis of -1.8 ± 1.4. GHD was associated with cranial (p .001) and HSCT 10 years old (p ≤ 0.001). Patients who were exposed to total body irradiation (TBI) were at higher risk for primary hypothyroidism (22.3%) (p = .01), thyroid nodules (17.1%) (p .001), thyroid carcinoma (5.3%) (p .001), dyslipidaemia (19.1%) (p .001) and disturbance of carbohydrate metabolism (19.1%) (p .001).At least one endocrine complication was diagnosed in 65.1% of patients, with gonadal dysfunction being the most prevalent. The conditioning regimen with TBI was a risk factor for the development of several endocrine disorders. This study is one of the largest series evaluating the endocrine disorders among survivors of paediatric HSCT and intends to reinforce the importance of routine follow-up of these patients.

Central precocious puberty (CPP) in neurofibromatosis type 1 (NF1) occurs mainly in association with optic pathway glioma (OPG), but it can also develop in the absence of OPG. The aim of this study was to analyze the prevalence of puberty disorders in children with NF1 and its association with OPG and its location.A retrospective study of 45 children with NF1 (68.9% boys) followed at our center between 2008 and 2020 was conducted. A cerebral MRI scan was performed in all children. We analyzed auxological, laboratory, and imaging data of children with CPP or accelerated puberty (AP). Treatments used for CPP/AP and their effect on height were also evaluated.The prevalence of puberty disorders in our cohort was 17.8% (male to female ratio of 7:1). CPP and AP were diagnosed in 8/45 (17.8%) NF1 children. Among children with puberty disorders, 5/8 (62.5%) had an OPG with chiasm involvement, 1/8 (12.5%) had an isolated optic nerve tumor, and 2/8 (25%) did not have any evidence of OPG on MRI. Fisher's exact test showed an association between CPP/AP and chiasm OPG (p = 0.025). Treatment with triptorrelin was initiated in 5/8 children, of whom four attained final predicted height.Our study confirms the higher prevalence of CPP/AP in NF1 patients, as well as an association between chiasm OPG and puberty disorders. However, CPP/AP also occurred in the absence of OPG with an incidence of 9.1%. Comprehensive evaluation of every child with NF1 regardless of the presence of OPG is therefore essential.

Cholangiocarcinoma (CC) is an aggressive liver tumor with limited therapeutic options. Natrium-iodide symporter (NIS) mediates the uptake of iodine by the thyroid, representing a key component in metabolic radiotherapy using iodine-131 (131I) for the treatment of thyroid cancer. NIS expression is increased in CC, providing the opportunity for a novel therapeutic approach for this type of tumor. Thus, in this study, we aimed to evaluate therapeutic efficacy of 131I in two human CC cell lines. Uptake experiments analyzed the 131I uptake profiles of the tumor cell lines under study. The cells were irradiated with various doses of 131I to evaluate and characterize the effects of metabolic radiotherapy. NIS protein expression was assessed by immunofluorescence methods. Cell survival was evaluated by clonogenic assay and flow cytometry was used to assess cell viability, and the type of death and alterations in the cell cycle. The genomic and epigenetic characterization of both CC cells was performed before and after irradiation. NIS gene expression was evaluated in the CC cells by RT-qPCR. The results revealed that CC cells had a higher expression of NIS. 131I induced a decrease in cell survival in a dose-dependent manner. With the increasing irradiation dose, a decrease in cell viability was observed, with a consequent increase in cell death by initial apoptosis. Karyotype and array comparative genomic hybridization (aCGH) analyses revealed that both CC cell lines were near-triploid with several numerical and structural chromosomal rearrangements. NIS gene expression was increased in the TFK-1 and HuCCT1 cells in a time-dependent manner. On the whole, the findings of this study demonstrate that the presence of NIS in cholangiocarcinoma cell lines is crucial for the decreased cell viability and survival observed following the exposure of cholangiocarcinoma cells to 131I.

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The study aimed at the development and content validation of an Auditory Processing Intervention Program for school-aged European Portuguese speaking children with Auditory Processing Disorder.The first step was the program's development and its instructions manual, which includes objectives, activities, procedures, materials, reinforcement, instructions, and verbal stimuli used, for the following auditory skills: auditory discrimination, auditory attention; auditory memory; auditory closure; figure-ground; auditory separation; auditory integration; binaural fusion; content validation was performed next, with two expert panels analyzing the program, through the use of a questionnaire. Content validity was calculated using the content validity index.Program evaluation shows an excellent content validity. Some items were modified after analyzing the experts' comments and suggestions (e.g. instructions, intensity differences, main character).This work allowed the development and content validation of an auditory processing intervention program, with verbal stimuli, selected according to strict linguistic criteria. In the future, the acceptability and efficacy of this program with the target population should be analyzed.O estudo teve como objetivos o desenvolvimento e validação de conteúdo de um Programa de Intervenção em Processamento Auditivo, destinado a crianças em idade escolar, com perturbação do processamento auditivo, falantes do português europeu.A primeira etapa consistiu no desenvolvimento do programa e respetivo manual de instruções, que inclui objetivos, atividades, procedimentos, materiais, reforços, instruções e estímulos verbais utilizados, para as competências auditivas de discriminação auditiva, atenção auditiva, memória auditiva, fechamento, figura-fundo; separação binaural, integração binaural e fusão binaural; a segunda etapa consistiu na validação de conteúdo, por dois painéis de peritos que analisaram o programa, através de um questionário. A validade de conteúdo foi calculada usando o índice de validade de conteúdo.A avaliação do programa revela uma excelente validade de conteúdo. Alguns itens foram modificados depois da análise dos comentários e sugestões dos peritos (ex: instruções, desníveis de intensidade, personagem principal).O estudo permitiu o desenvolvimento e validação de um programa de intervenção em processamento auditivo, com estímulos verbais, selecionados de acordo com critérios linguísticos rigorosos. Futuramente, está prevista a realização de estudos de aceitabilidade e eficácia do programa junto da população alvo.

Introduction: Trapezium fracture is a rare entity whose treatment is controversial. The reported cases range from conservative treatment to surgical treatment with good reported results. Case Report: This paper reports a clinical case of trapezium-metacarpal fracture-dislocation associated with trapezius fracture and Bennett fracture, surgically treated with excellent functional and radiological results. The patient underwent open reduction and internal fixation with two screws, excision of fragments, and reinsertion of the anterior oblique ligament. At the year of follow-up, the patient presented no mobility limitations and recovered grip strength. Conclusion: This case study allows us to conclude that open reduction and internal fixation with screws of the dorsal trapezium ridge fractures with ligament repair of the anterior oblique ligament is a valid treatment with the reproduction of good clinical results. Keywords: Hand surgery, internal fixation, trapezium fracture.

Dissertação de Mestrado em Engenharia Informática apresentada à Faculdade de Ciências e Tecnologia A detecção de um incêndio na sua fase inicial pode mitigar amplamente as suas consequências. Com os desenvolvimentos na área da tecnologia de captura de imagens e a consequente melhoria da qualidade das imagens obtidas, torna-se hoje em dia possível o desenvolvimento de sistemas de identificação visual de incêndios. O presente trabalho apresenta um sistema inteligente de reconhecimento de fumo e fogo que pode ser aplicado a imagens capturadas por câmaras de smartphones. Este sistema destina-se a ser integrado numa aplicação que permitirá reportar incêndios por meio de dados crowdsourced. No âmbito do desenvolvimento do sistema, diferentes técnicas de deep learning para classificação de imagens e detecção de objetos foram implementadas e testadas, considerando duas abordagens distintas de reconhecimento de objetos de imagem: classificação de imagens e detecção de objetos. As fases de treino e avaliação dos modelos são também documentadas no presente trabalho, assim como todas as etapas de pré e pós-processamento consideradas. Para o desenvolvimento das diferentes abordagens de detecção de objetos e classificação de imagens, são propostos diferentes datasets para o treino e avaliação dos modelos ResNet e YOLO, específicos para o problema de reconhecimento de fumo e fogo em imagens. Destacam-se os datasets anotados propostos para treino e teste de modelos YOLO, que podem ser usados em futuros projetos de deteção de fumo e fogo. O sistema proposto apresenta resultados promissores para a detecção de objetos das classes Fire e Smoke em imagens estáticas. Com a abordagem de detecção proposta, é também possível obter bons resultados na classificação das imagens, atribuindo uma classe a cada imagem com base nos objetos detectados, através do método de pós-processamento proposto. The early detection of a fire can largely mitigate its harmful consequences. With the developments in the area of image capture technology and the consequent improvement in image quality, it is now possible to develop systems for visual identification of fire indicators. The present work presents an intelligent fire and smoke recognition system that can be applied to images captured by smartphone cameras. This system is to be integrated into an application that will allow the reporting of fires using crowdsourced data.Different deep learning techniques for image classification and object detection were implemented and tested, considering two distinct image object recognition approaches: image classification and object detection. The models' training and evaluation phases are documented in the present thesis as well as all the pre-processing and post-processing steps that were taken into account. As part of the development of fire detection and classification approaches, different datasets are proposed to train and evaluate ResNet and YOLO models, specific to the fire and smoke recognition problem. The proposed annotated datasets for YOLO models stand out, which can be used in future smoke and fire detection projects. The proposed system presents promising results for detecting objects of the Fire and Smoke classes in still images. With the proposed detection approach, it is also possible to obtain good results for image classification, assigning a class to each image based on the detected objects with the proposed post-processing method. Outro - FCT - FireLoc

Heavy minerals in tsunami and storm deposits have been used to establish sediment sources and to infer the inundation and backwash phases (Morton et al., 2007). The abundance of these minerals is dependent on the hydrodynamic conditions that existed during transport and depositional stages. Overall, heavy mineral analysis allowed interpretations on sediment dynamics. Heavy mineral studies on tsunami deposits allowed the establishment of source-to-sink relationships thus, contributed to establish transport paths and inundation routes (Jagodzinski et al., 2012; Putra et al., 2013; Costa et al., 2015; Cascalho et al., 2016).After the Tohoku-oki tsunami event, GeoSlicer were excavated and tsunami imprints were retrieved from the slices in Misawa coastal area (Japan). Heavy minerals from thirty-six samples were analyzed. Heavy minerals in the sediment fraction of 0.125-0.500 mm were separated by centrifugation in sodium polytungstate (2.90 kg/m3) and recovered by partial freezing with liquid nitrogen. An average of about 220 transparent heavy-mineral grains per sample were identified and counted under a petrographic microscope. Heavy minerals not mounted on glass slides were subjected to the ferromagnetic separation using a Frantz Isodynamic Magnetic apparatus to estimate the weight of magnetite in each sample.Heavy-mineral weight in total sediment fraction presented a mean value of 31%, ranging between 18 and 59%. The magnetite weight percentage present in the heavy-mineral fraction has a mean of 26% ranging between 14 and 43%.Considering the mean frequency of the transparent heavy minerals it was identified the presence of orthopyroxenes (67%), followed by clinopyroxenes (30%).These results indicate that the main original source of heavy minerals are basic volcanic rocks. The wide ranges of variation of the total heavy mineral fraction and the magnetite present in that fraction provides useful information about the flow competence of the tsunami waves. The samples that reveal higher concentration in total heavy minerals tend to be richer in magnetite. These results could be used to pinpoint water flow conditions (velocity thresholds) promoting grain sorting leading to the formation of layers enriched in heavy minerals. Confirming previous cases, heavy mineral analysis in Misawa tsunami deposit seems to provide useful insights into tsunami-derived sediment dynamic. Cascalho, J., Costa, P., Dawson, S., Milne, F. and Rocha, A. 2016. Heavy mineral assemblages of the Storegga tsunami deposit. Sedimentary geology, 334, 21-33. Costa, P.J., Andrade, C., Cascalho, J., Dawson, A.G., Freitas, M.C., Paris, R. and Dawson, S., 2015. Onshore tsunami sediment transport mechanisms inferred from heavy mineral assemblages. The Holocene, 25(5), pp.795-809.Jagodziński, R., Sternal, B., Szczuciński, W., Chagué-Goff, C. and Sugawara, D., 2012. Heavy minerals in the 2011 Tohoku-oki tsunami deposits—insights into sediment sources and hydrodynamics. Sedimentary Geology, 282, pp.57-64.Morton, R.A., Gelfenbaum, G. and Jaffe, B.E., 2007. Physical criteria for distinguishing sandy tsunami and storm deposits using modern examples. Sedimentary Geology, 200(3-4), pp.184-207.Putra, P.S., Nishimura, Y., Nakamura, Y. and Yulianto, E., 2013. Sources and transportation modes of the 2011 Tohoku-Oki tsunami deposits on the central east Japan coast. Sedimentary Geology, 294, pp.282-293.The author would like to acknowledge the financial support FCT through project UIDB/50019/2020 – IDL and by FCT OnOff project PTDC/CTAGEO/28941/2017.

CASE We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur. Surgical arthrodesis with antegrade intramedullary nailing may be appropriate in a patient with severe Charcot neuroarthropathy of the knee.