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The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.

IntroductionThe production of resting cysts is a key dispersal and survival strategy of many dinoflagellate species. However, little is known about the role of suspended cysts in the benthic nepheloid layer (BNL) in the initiation and decline of planktonic populations.MethodsIn September 2019, sampling of the dinoflagellate cyst community at different water depths in the water column and in the bottom sediments, and studies of spatio-temporal changes in physical properties (temperature, salinity, density and suspended sediment concentration), were carried out along a land-sea transect off Figueira da Foz (NW Portugal) to investigate the dinoflagellate cyst distribution and the factors (physical and biological) affecting it. A clustering analysis was used to compare the BNL and sediment cyst records with the cyst rain recorded by a sediment trap at a fixed station. Furthermore, Lagrangian particle experiments enabled simulating cyst trajectories in the BNL 5 and 10 days before sampling and assessing cross-shore, vertical and alongshore transport within the studied region.ResultsA well-developed BNL was present during the survey, which covered a change from active (14th of September) to relaxed (19th of September) upwelling conditions. Organic-walled dinoflagellate cysts were dominant in all samples, although calcareous dinoflagellate cysts consistently occurred (at low abundances). High proportions of full cysts were observed in the BNL, of which a significant portion was viable as shown by excystment experiments. Moreover, BNL cyst records collected on the 19th of September along the land-sea transect were similar to the sediment trap cyst record but greatly differed from sediment cyst records. The heterotrophic small spiny brown cysts (SBC) and cysts of the autotrophic yessotoxin-producer Protoceratium reticulatum notably increased during the survey, in the BNL and in the water column above.DiscussionThe comparison of the BNL, surface sediment and sediment trap cyst records supported that the main origin of cysts in the BNL was the recent production in the water column. The spatial coincidences in the distribution of cysts and vegetative cells of Protoceratium reticulatum also supported that full cysts in the water column were being produced in surface waters. New data evidenced the presence of a significant reservoir of viable cysts in the BNL that have the potential to seed new planktonic blooms. Furthermore, back-track particle modelling evidenced that alongshore advection was the main physical mechanism controlling cyst dynamics in the BNL during most part of the survey period, being particularly intense in coastal stations (

Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. Effective diagnostic methods are widely available, but due to their clinical heterogeneity and non-specificity, many years often elapse from symptom onset to diagnosis of acute porphyrias, delaying the treatment and increasing morbidity. Therefore, increased awareness of acute porphyrias among healthcare professionals is paramount to reducing disease burden. Treatment of acute porphyrias is centered on eliminating the potential precipitants, symptomatic treatment, and suppressing the hepatic heme pathway, through the administration of hemin or givosiran. Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023.

Abstract Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic information from thirteen PDC deficient patients, thus seeking to establish possible genotype–phenotype correlations. Results The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1α subunit, five patients carry mutations in the PDHX gene encoding the E3 binding protein, and the remaining patient carries mutations in the DLD gene encoding the E3 subunit. These data corroborate earlier reports describing PDHA1 mutations as the predominant cause of PDC deficiency but also reveal a notable prevalence of PDHX mutations among Portuguese patients, most of them carrying what seems to be a private mutation (p.R284X). The biochemical analyses revealed high lactate and pyruvate plasma levels whereas the lactate/pyruvate ratio was below 16; enzymatic activities, when compared to control values, indicated to be independent from the genotype and ranged from 8.5% to 30%, the latter being considered a cut-off value for primary PDC deficiency. Concerning the clinical features, all patients displayed psychomotor retardation/developmental delay, the severity of which seems to correlate with the type and localization of the mutation carried by the patient. The therapeutic options essentially include the administration of a ketogenic diet and supplementation with thiamine, although arginine aspartate intake revealed to be beneficial in some patients. Moreover, in silico analysis of the missense mutations present in this PDC deficient population allowed to envisage the molecular mechanism underlying these pathogenic variants. Conclusion The identification of the disease-causing mutations, together with the functional and structural characterization of the mutant protein variants, allow to obtain an insight on the severity of the clinical phenotype and the selection of the most appropriate therapy.

Resting cysts of planktonic dinoflagellates, once produced, sink to the seabed where they can remain viable for a long time. These cysts have important ecological roles, such as acting as the inoculum for the development of planktonic populations. Moreover, dinoflagellate cyst records from depth sediment cores are broadly used as a proxy to infer past environmental conditions. In this study, the main objective was to obtain information on the relationships between the spatial distribution of modern dinoflagellate cysts and present-day hydrography in the NW Iberian shelf. Cyst assemblages were analyzed in 51 surface sediment samples with varying grain sizes, collected at different water depths, following nine transects perpendicular to the coast, between Aveiro and Figueira da Foz (Atlantic Iberian margin). Multivariate statistical analyses revealed marked land-sea and latitudinal gradients in the distribution of cysts, and helped investigate how environmental factors [water depth, grain size, sea-surface temperature (SST), sea-surface salinity (SSS), bottom temperature (BTT) and surface chlorophyll-a concentration (CHL)] influence modern dinoflagellate cyst composition and abundances. Three main ecological signals were identified in the modern dinoflagellate cyst assemblages: (1) the heterotroph signal as the main upwelling signal; (2) the dominance of P. reticulatum and L. polyedra signal, indicative of warm stratified conditions, possibly reflecting transitional environments between more active inshore upwelling and warmer offshore waters; and (3) the G. catenatum signal for the presence of mid-shelf upwelling fronts. The almost absence of viable cysts of the toxic and potentially toxic species G. catenatum L. polyedra and P. reticulatum suggests that in the study area, for these species, there is no build-up of significant cyst beds and thus planktonic populations must depend on other seeding processes. These results are the first detailed modern distribution of dinoflagellate cysts in the NW Iberian Atlantic margin (off Portugal), and show a good correspondence with hydrographic features of summer upwelling season in the study area, meaning that they are reflecting water column characteristics and therefore may be used as supporting evidence for the interpretation of stratigraphic cyst records and reconstruction of past marine ecosystems in W Iberia.

Abstract Flood risk management in urban areas adjacent to the coast is essential to increase their resilience. This study aims at improving scientific knowledge of flood risk alongside estuaries, considering different hazards and integrating estuarine and urban drainage modelling. Mathematical modelling of stormwater systems is a useful tool to evaluate the susceptibility to flooding and identify potential measures to reduce flood risk. The assessment of urban drainage flooding uses a coupled 1D/2D model, applying 1D model to the underground system and 2D model for the surface component. Assessment scenarios were based on variables rainfall, estuarine water level, and degree of obstruction in sewers and at system outfalls. Estuarine hydrodynamics were simulated using the SCHISM‐WWM model. A web GIS platform was developed to support urban flood risk forecast and management providing urban analysis visualisation. The main objective is to forecast flooding in the Dafundo catchment supporting definition of population warnings. This paper proposes a flood risk assessment approach, using 1D/2D coupled modelling, estuarine hydrodynamics, integrating the assessment in a forecast web platform. The novelty is supporting an integrated flood risk management in stormwater systems, particularly in estuarine areas, providing an important improvement to assess flooding occurrence, regarding flood depth, area and duration.

Water losses from water distribution means have a high environmental impact in terms of natural resource depletion (water, energy, ecosystems). This work aims to develop an optical airborne surveillance service for the detection of water leaks (WADI—Water-tightness Airborne Detection Implementation) to provide water utilities with adequate and timely information on leaks in water transportation mains outside urban areas. Firstly, a series of measurement campaigns were performed with two hyperspectral cameras and a thermal infrared camera in order to select the most appropriate wavelengths and combinations thereof for best revealing high moisture areas, which are taken as a proxy for water leakage. The Temperature-Vegetation-Index method (T-VI, also known as Triangle/Trapezoid method) was found to provide the highest contrast-to-noise ratio. This preliminary work helped select the most appropriate onboard instrumentation for two types of aerial platforms, manned (MAV) and unmanned (UAV). Afterwards, a series of measurement campaigns were performed from 2017 to 2019 in an operational environment over two water distribution networks in France and Portugal. Artificial leaks were introduced and both remote sensing platforms successfully detected them when excluding the unfavorable situations of a recent rain event or high vegetation presence. With the most recent equipment configuration, known and unknown real leaks in the overflown part of a water transportation network in Portugal have been detected. A significant number of false alarms were also observed which were due either to natural water flows (groundwater exfiltration, irrigation runoff and ponds) or to vegetation-cover variability nearby water-distribution nodes. Close interaction with the water utilities, and ancillary information like topographic factors (e.g., slope orientation), are expected to reduce the false alarm rates and improve WADI’s methodology performance.

The combined action of waves, surges and tides can cause flooding, erosion and dune and structure overtopping in many coastal regions. Addressing emergency and risk management in these areas require a combination of targeted campaigns and real-time data that measure all phenomena at stake and can be used to develop comprehensive monitoring platforms. These monitoring platforms can support the development of prediction tools that address all hazards in an integrated way. Herein, we present a methodology focused on multi-hazard coastal alert and risk, and its implementation in a tailored WebGIS platform. The MOSAIC platform offers a one-stop-shop capacity to access in-situ and remote sensing data, and hydrodynamic and morphodynamic predictions, supported by numerical models: SCHISM and XBeach. Information is structured on a local observatory scale, with regional forcings available for the correct interpretation of local hazards effects. This implementation can be further applied and extended to other coastal zones. The MOSAIC platform also provides access to a detailed database of past hazardous events, organized along several risk indicators, for the western coast of Portugal. The combination of features in the platform provides a unique repository of hazard information to support end-users for both emergency and long term risk planning actions.

This article presents a dataset proving the simultaneous presence of a 5′UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in “Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells” (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016) [1].

Understanding the natural variability of coastal ecosystems, and in particular distinguishing between the natural fluctuations and the ones that are caused by anthropogenic interventions and long-term climatic variability, is a major concern for establishing adequate management and adaptation strategies. The Aveiro lagoon, a shallow coastal lagoon (Portugal), holds one of the largest saltmarshes and saltpans in Europe and is a very important ecosystem from both economic and ecological viewpoints, making the protection of its water masses a requirement. To better understand the variability of its ecosystem, the factors controlling seasonal, inter-annual and long-term variability of the water quality in the Aveiro lagoon were thus analyzed. The statistical analysis was based on a set of climatic, hydrological and water quality observations undertaken between 1985 and 2010. Seasonal variations were mostly related with the seasonal variation of the main climatic and hydrological drivers, while long-term shifts were typically driven by the anthropogenic interventions in the lagoon. After the adoption of secondary treatment for industrial effluents on 1992, a recovery from hypoxia conditions occurred in the upstream area of the lagoon. After 2000 lower concentrations of silicates occurred downstream, and may also derive from some anthropogenic modifications (e.g., shunting of river water to the sewage system, deepening of the inlet) that may have affected the physical dynamics. In the downstream area of the lagoon, chlorophyll a presented a downward trend between 1985 and 2010 and lower concentrations after 2000, which were probably associated with the lower concentrations of silicates. Results from the data analysis showed that the seasonal, inter-annual and long-term trends observed in the Aveiro lagoon depend on the influence of both anthropogenic and climate drivers, putting in evidence the need to combine these different drivers when evaluating and developing management strategies for estuarine ecosystems.

The Nazaré submarine canyon extends ~ 210 km westward from the coast of Portugal, down to a water depth of > 4300 m. The considerable habitat heterogeneity found throughout the canyon is affected by strong currents and high turbidity, especially in the upper parts of the canyon. The canyon morphology comprises steep slopes, scarps, terraces, and overhangs, and a deeply incised thalweg is found in the lower part of the canyon. The seabed within the canyon is composed of varying proportions of rock and sediments that range from sand to fine mud. This great variation in physical environment is reflected by the varied fauna inhabiting the canyon. Diversity tends to decrease with depth, but there is also continual replacement of species with increasing water depth. Certain groups, such as the gorgonians and sea lilies, tend to be found on rocky surfaces, while large protozoans dominate the sediments at 3400-m depth. In addition to describing the fauna of Nazaré Canyon, we discuss experiments undertaken as part of the HERMES project to elucidate the ecosystem function processes operating in the deeper parts of the canyon.

Fractal analysis of free bases porphyrins was computed on atomic force microscopy (AFM) micrographs using two different methods: the correlation function method and the variable length scale method. The correlation function method provides fractal dimension only for short scale range; results indicate that only few images have fractal properties for short ranges; for the rest of them, no fractal dimension was found using the correlation function method. The variable length scale method occur information for long range scaling. All samples have fractal properties at higher scaling range. For three samples the correlation function method leads to the same fractal dimension as the variable length scale method and scaling ranges for both methods overlap. Results show the necessity to use both methods to describe the fractal properties of AB3 meso-porphyrins that may be used to predict their relative cell localization. In order to emphasize the influence of fractal and textural properties the results regarding their self-similarity and texture/morphology were further compared with their behavior in biological assessment, that is, functionality of some Jurkat cell lines.

O hemangioendotelioma epitelióide da pleura é uma neoplasia rara, com crescimento rápido, de difícil diagnóstico imagiológico e histológico e raramente submetido a tratamento cirúrgico atempado e curativo devido à sobrevida muito curta que condiciona. Em 2005 estavam descritos 31 casos de tumores vasculares na pleura, sendo 11 hemagioendoteliomas epitelióides, aos quais se acrescenta o actual, de uma doente de 52 anos que sofreu um traumatismo toraco-abdominal. Revelou tempo de sobrevida longo (29 meses) após o diagnóstico histológico, ocorrido ocasionalmente por biópsias efectuadas em exame toraco-videoscópico para drenagem de hemotórax. Eram evidentes as lesões vasculares características na pleura direita, sem tradução imagiológica, e houve desenvolvimento de lesão nodular, documentado um mês antes do falecimento da doente.Epithelioid haemangioendothelioma of the pleura is a rare neoplasia with a very poor prognosis due to aggressive involvement of the pleura and incomplete surgical treatment. Histological diagnosis and imagiology is also controversial, related to discrete development of the lesions that later reveal nodules. In 2005 there were 31 cases of vascular tumours described in the pleura. Eleven were epithelioid haemangioendotheliomas. This is another case, a 52 year old woman who suffered a traumatism and died 29 months after the histological diagnosis because CAT revealed discrete pleural involvement and a 2cm nodule was seen only one month before death.

Resumo: O hemangioendotelioma epitelióide da pleura é uma neoplasia rara, com crescimento rápido, de difícil diagnóstico imagiológico e histológico e raramente submetido a tratamento cirúrgico atempado e curativo devido à sobrevida muito curta que condiciona.Em 2005 estavam descritos 31 casos de tumores vasculares na pleura, sendo 11 hemagioendoteliomas epitelióides, aos quais se acrescenta o actual, de uma doente de 52 anos que sofreu um traumatismo toraco-abdominal. Revelou tempo de sobrevida longo (29 meses) após o diagnóstico histológico, ocorrido ocasionalmente por biópsias efectuadas em exame toraco-videoscópico para drenagem de hemotórax. Eram evidentes as lesões vasculares características na pleura direita, sem tradução imagiológica, e houve desenvolvimento de lesão nodular, documentado um mês antes do falecimento da doente.Rev Port Pneumol 2006; XII (4): 455-461 Abstract: Epithelioid haemangioendothelioma of the pleura is a rare neoplasia with a very poor prognosis due to aggressive involvement of the pleura and incomplete surgical treatment. Histological diagnosis and imagiology is also controversial, related to discrete development of the lesions that later reveal nodules.In 2005 there were 31 cases of vascular tumours described in the pleura. Eleven were epithelioid haemangioendotheliomas. This is another case, a 52 year old woman who suffered a traumatism and died 29 months after the histological diagnosis because CAT revealed discrete pleural involvement and a 2cm nodule was seen only one month before death.Rev Port Pneumol 2006; XII (4): 455-461 Palavras-chave: Pleura, hemangioendotelioma epitelióide, Key-words: Pleura, epithelioid haemangioendothelioma

No presente trabalho, é apresentado Heterothalamulopsis, gênero novo da subtribo Baccharinae Lessing, tendo por basiônimo Heterothalamus wagenitzii F. H. Hellwig. O gênero é descrito e ilustrado. Segue uma chave para a separação dos gêneros brasileiros da subtribo.

RESUMO: O mesotelioma maligno é uma neoplasia rara associada, em 80 % dos casos, a exposição prolongada a asbestos, existindo um período de latência de 20 a 50 anos. O seu tratamento é quase sempre paliativo, dada a extensão da doença aquando do diagnóstico, sendo o tumor pouco sensível à quimioterapia e à radioterapia. A sobrevivência média varia entre 4 e 18 meses, raramente ultrapassando os 5 anos.Apresenta-se o caso de um homem, de 82 anos, ex-marinheiro, com neoplasia da próstata em fase de âescapeâ hormonal, internado por tosse seca e dispneia, tendo sido documentado extenso derrame pleural à direita. Foi colocada como primeira hipótese a origem metastática, não esquecendo a infecciosa e a neoplásica primitiva. A toracocentese com biópsia pleural permitiu o diagnóstico de mesotelioma maligno do tipo epitelial, confirmado por toracoscopia, associado a exposição ocupacional prolongada a asbestos. Sem indicação cirúrgica, efectuou quimioterapia com gencitabina e cisplatina associada a pleurodese, com bom resultado clínico. No entanto, a presença de duas neoplasias malignas, aspecto não muito frequente na prática clínica, vem ensombrar o diagnóstico, especialmente pelo mesotelioma maligno do tipo epitelial no estádio II de Butchart. São abordadas novas técnicas de diagnóstico diferencial com o adenocarcinoma metastático, bem como âarmas terapêuticasâ promissoras, actualmente em investigação.REV PORT PNEUMOL 2003; IX (5): 411-425 ABSTRACT: Malignant mesothelioma is a rare neoplasm associated, in 80% of the cases, with exposure to asbestos fibres, with a latency period between 20 and 50 years. The treatment is palliative in most cases because of the extension of the disease at the time of diagnosis. Mesothelioma is a resistant tumour to chemotherapy and radiotherapy. Overall survival varies between 4 and 18 months, rarely over 5 years.The authors present a case of a 82-year-old man, ex-sailor, with prostatic neoplasm in hormonal âescapeâ phase, admitted with cough and dyspnea. The chest radiograph showed extense right pleural effusion. The diagnostic hypothesis were metastatic, infeccious and primitive neoplasm origin. Pleural biopsy revealed epithelial malignant mesothelioma confirmed by thoracoscopy, associated with prolongated occupational exposure to asbestos fibres. Without surgery indication the patient was submitted to chemotherapy with gencitabin and cisplatin asociated with pleurodesis. Although he improved clinically, the presence of two malignant neoplasms, a rare situation in clinical practice, is associated with a poor prognosis, especially condicionated by the epithelial malignant mesothelioma in Butchart stage II. Finally, we discussed new differential diagnostic techniques with metastatic adenocarcinoma and target therapies under study.REV PORT PNEUMOL 2003; IX (5): 411-425 Palavras-chave: Mesotelioma maligno, Asbestos, Toracoscopia, Key-words: Malignant mesothelioma, Asbestos, Thoracoscopy

In the botany review of the genus Heterothalamus Less., it was discovered a new species, endemic of the Serra do Sudeste, in the State of Rio Grande do Sul (Brazil), that is described, illustrated and compared with similar species.

Wireless sensor networks are being increasingly used in several application areas, particularly to collect data and monitor physical processes. Non-functional requirements, like reliability, security or availability, are often important and must be accounted for in the application development. For that purpose, there is a large body of knowledge on dependability techniques for distributed systems, which provide a good basis to understand how to satisfy these non-functional requirements of WSN-based monitoring applications. Given the data-centric nature of monitoring applications, it is of particular importance to ensure that data are reliable or, more generically, that they have the necessary quality. In this survey, we look into the problem of ensuring the desired quality of data for dependable monitoring using WSNs. We take a dependability-oriented perspective, reviewing the possible impairments to dependability and the prominent existing solutions to solve or mitigate these impairments. Despite the variety of components that may form a WSN-based monitoring system, we give particular attention to understanding which faults can affect sensors, how they can affect the quality of the information and how this quality can be improved and quantified.

Introdução: A Doença de Pompe é uma miopatia autossómica recessiva progressiva e incapacitante, devida ao défice da enzima isossómica α-glicosidade-ácida. A sua forma tardia tem uma apresentação heterogénea que mimetiza outras doenças neuromusculares, o que dificulta o diagnóstico. Objectivo: Desenvolver recomendações baseadas em consenso para o diagnóstico da forma tardia da doença de Pompe. Material e Métodos: Revisão bibliográfica e análise de um questionário de opinião aplicado a um grupo de especialistas com experiência no diagnóstico de várias miopatias e doenças de sobrecarga lisossomal. Discussão em reunião de consenso. Recomendações: Doentes com miopatia proximal progressiva, fadiga, cãibras e mialgias devem ser submetidos a uma avaliação complementar com determinação de níveis de creatinina fosfoquinase, electromiograma, espirometria dinâmica e, em casos inconclusivos, biópsia muscular. Nos casos suspeitos ou naqueles em que a biópsia muscular não permita outro diagnóstico deve ser determinada a atividade da enzima lisossómica α-glicosidade-ácida através de teste de gota seca (DBS – dried blood spot). A redução da atividade da enzima lisossómica α-glicosidade-ácida requer a confirmação numa segunda amostra e a sequenciação do gene da enzima lisossómica α-glicosidade-ácida. Palavras-chave: Idade de Início; Consenso; Doença de Armazenamento de Glicogénio tipo II.

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In the present work it is described and illustrated Hysterionica nebularis, a new species, endemic from the Aparados da Serra, in the State of Rio Grande do Sul (Brazil).

Panniculitis is an inflammation occurring within adipose tissue. This process is often associated with auto-immune diseases, infections, malignancy and others diseases of unknown cause. We report a 16-year-old woman with constitutional symptoms and relapsing nonsuppurative nodular panniculitis. The etiological study didn't identify any associated disease, on admission or in 2,5 years of follow-up. This is a case of Weber-Christian disease with a favourable corticosteroid therapy result. The authors present a Weber-Christian disease bibliographic revision.