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Article ; Online: Leigh Syndrome: A Case Report with a Mitochondrial DNA Mutation.

Bandeira, Anabela Oliveira

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

2019 Volume 37, Issue 1, Page(s) 136

MeSH term(s)	Adenosine Triphosphate ; Anesthesia ; Anesthetics ; DNA, Mitochondrial ; Humans ; Leigh Disease ; Mitochondria ; Mutation
Chemical Substances	Anesthetics ; DNA, Mitochondrial ; Adenosine Triphosphate (8L70Q75FXE)
Language	Portuguese
Publishing date	2019-02-15
Publishing country	Brazil
Document type	Letter ; Comment
ZDB-ID	2560228-7
ISSN	1984-0462 ; 0103-0582
ISSN (online)	1984-0462
ISSN	0103-0582
DOI	10.1590/1984-0462/;2019;37;1;00020
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Environmental Factors Affecting Spatial Dinoflagellate Cyst Distribution in Surface Sediments Off Aveiro-Figueira da Foz (Atlantic Iberian Margin)

Iria García-Moreiras / Anabela Oliveira / Ana I. Santos / Paulo B. Oliveira / Ana Amorim

Frontiers in Marine Science, Vol

2021 Volume 8

Abstract: 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. ... ...

Abstract	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 ...
Keywords	dinoflagellate cysts ; sediments ; spatial distribution ; environmental gradients ; coastal ecosystems ; HABs ; Science ; Q ; General. Including nature conservation ; geographical distribution ; QH1-199.5
Subject code	550
Language	English
Publishing date	2021-08-01T00:00:00Z
Publisher	Frontiers Media S.A.
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Portuguese Consensus on Acute Porphyrias

Luís Brito Avô / Luísa Pereira / Anabela Oliveira / Filipa Ferreira / Paulo Filipe / Inês Coelho Rodrigues / Eduarda Couto / Fátima Ferreira / André Airosa Pardal / Pedro Morgado / Sónia Moreira

Acta Médica Portuguesa, Vol 36, Iss

Diagnosis, Treatment, Monitoring and Patient Referral

2023 Volume 11

Abstract: 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 ... ...

Abstract	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.
Keywords	Consensus ; Porphyria ; Acute Intermittent/diagnosis ; Acute Intermittent/therapy ; Porphyrias/diagnosis ; Porphyrias/therapy ; Portugal ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2023-11-01T00:00:00Z
Publisher	Ordem dos Médicos
Document type	Article ; Online
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Article ; Online: New physical and biological evidence of lateral transport affecting dinoflagellate cyst distribution in the benthic nepheloid layer along a land-sea transect off Figueira da Foz (Atlantic Iberian margin)

Iria García-Moreiras / Melissa Hatherly / Karin Zonneveld / Jesus Dubert / Rita Nolasco / Ana Isabel Santos / Anabela Oliveira / Teresa Moita / Paulo B. Oliveira / Jorge M. Magalhães / Ana Amorim

Frontiers in Marine Science, Vol

2023 Volume 10

Abstract: 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 ... ...

Abstract	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 ...
Keywords	benthic nepheloid layer ; dinoflagellate cysts ; cyst reservoir ; advection ; coastal ecosystems ; Portuguese margin ; Science ; Q ; General. Including nature conservation ; geographical distribution ; QH1-199.5
Subject code	550
Language	English
Publishing date	2023-12-01T00:00:00Z
Publisher	Frontiers Media S.A.
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Climatic and anthropogenic factors driving water quality variability in a shallow coastal lagoon (Aveiro lagoon, Portugal)

Marta Rodrigues / Henrique Queiroga / Anabela Oliveira / Vanda Brotas / Maria D. Manso

AIMS Environmental Science, Vol 3, Iss 4, Pp 673-

1985–2010 data analysis

2016 Volume 696

Abstract: 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 ... ...

Abstract	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.
Keywords	Long-term variability ; Chlorophyll a ; dissolved oxygen ; nutrients ; estuaries ; Environmental sciences ; GE1-350
Subject code	333
Language	English
Publishing date	2016-10-01T00:00:00Z
Publisher	AIMS Press
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Multi-Hazard WebGIS Platform for Coastal Regions

Miguel Rocha / Anabela Oliveira / Paula Freire / André B. Fortunato / Alphonse Nahon / José L. Barros / Alberto Azevedo / Filipa S. B. F. Oliveira / João Rogeiro / Gonçalo Jesus / Ricardo J. Martins / Pedro P. Santos / Alexandre O. Tavares / João Oliveira

Applied Sciences, Vol 11, Iss 5253, p

2021 Volume 5253

Abstract: 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 ... ...

Abstract	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.
Keywords	web platform ; flood and erosion risk management ; hydro-morphodynamic modeling ; remote sensing ; forecast systems ; GIS ; Technology ; T ; Engineering (General). Civil engineering (General) ; TA1-2040 ; Biology (General) ; QH301-705.5 ; Physics ; QC1-999 ; Chemistry ; QD1-999
Subject code	005
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Hemangioendotelioma epitelióide da pleura

Lina Carvalho / Anabela Oliveira

Revista Portuguesa de Pneumologia, Vol 12, Iss 4, Pp 455-

sobrevida de 29 meses Epithelioid haemangioendothelioma of the pleura: 29 months survival

2006 Volume 461

Abstract: 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 ...

Abstract	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.
Keywords	Pleura ; hemangioendotelioma epitelióide ; epithelioid haemangioendothelioma ; Diseases of the respiratory system ; RC705-779 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Internal medicine ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2006-07-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Compositional Data Analysis (CoDA) as a tool to study the (paleo)ecology of coccolithophores from coastal-neritic settings off central Portugal

Guerreiro, Catarina / Anabela Oliveira / Aurora Rodrigues / Mário Cachão / Vera Pawlowsky-Glahn

Sedimentary geology. 2015 Apr. 15, v. 319

2015

Abstract: Whereas using the species percentages is the standard analytical procedure used to infer species ecological preferences, independently of taphonomical effects, the closure problem associated with closed number systems and subsequent inconsistency of ... ...

Abstract	Whereas using the species percentages is the standard analytical procedure used to infer species ecological preferences, independently of taphonomical effects, the closure problem associated with closed number systems and subsequent inconsistency of determining percentages may lead to spurious correlations, biased statistical analysis and misleading interpretations. To avoid these problems, we applied Compositional Data Analysis (CoDA) to investigate the (paleo)ecological preferences and spatial distribution of coccolith assemblages preserved in seafloor sediments, using as a case-study the central Portuguese submarine canyons and adjacent shelf-slope areas. Results from using the isometric log-ratio (ilr) approach from CoDA are compared with results from using classical analytical methods, and further discussed.While providing scale invariance and subcompositional coherence, CoDA is revealed to be a consistent statistical tool to infer the (paleo)ecological preferences of coccolithophores, corroborating earlier work based on from percentage determinations. Results of this study clearly confirmed the coastal-neritic distribution of coccoliths from Gephyrocapsa oceanica, Helicosphaera carteri and Coronosphaera mediterranea, whereas coccoliths from Calcidiscus leptoporus, Umbilicosphaera sibogae, Umbellosphaera irregularis and Rhabdosphaera spp. more typically occur offshore. Differences between canyons and adjacent shelf and slope areas were also confirmed, namely the (a) greater importance of the coastal-neritic assemblage possibly resulting from local and persistent nutrient pumping in these areas, and (b) stronger mixing of coccoliths from coastal and oceanic species in upper canyon reaches, resulting from the focused coastward advection of more oceanic water masses along their axes.Unlike the results from both ilr-coordinates and the percentage approaches, both coccolith concentrations and fluxes showed that spatial trends in which the species ecological inter-relationships appear to be masked by taphonomical phenomena, especially towards the coast and in the canyons, suggesting the two latter approaches are not suitable to perform (paleo)ecological inferences in more dynamic coastal-neritic settings.Our study suggests that the (paleo)ecological signal preserved in the studied sediment samples is persistent enough to be revealed by both CoDA and percentages. Yet, given that CoDA provides the only statistical solution to coherently draw (paleo)ecological interpretations from compositional data, our recommendation is that CoDA should always be used to test and validate any ecological signals obtained from percentage distributions.
Keywords	advection ; analytical methods ; Calcidiscus ; canyons ; coasts ; Coronosphaera ; data analysis ; Helicosphaera ; mixing ; paleoecology ; sediments ; statistical analysis ; Portugal
Language	English
Dates of publication	2015-0415
Size	p. 134-146.
Publishing place	Elsevier B.V.
Document type	Article
ZDB-ID	216739-6
ISSN	0037-0738
ISSN	0037-0738
DOI	10.1016/j.sedgeo.2015.01.012
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Pyruvate dehydrogenase complex deficiency

Hana Pavlu-Pereira / Maria João Silva / Cristina Florindo / Sílvia Sequeira / Ana Cristina Ferreira / Sofia Duarte / Ana Luísa Rodrigues / Patrícia Janeiro / Anabela Oliveira / Daniel Gomes / Anabela Bandeira / Esmeralda Martins / Roseli Gomes / Sérgia Soares / Isabel Tavares de Almeida / João B. Vicente / Isabel Rivera

Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-

updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

2020 Volume 14

Abstract: 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, ... ...

Abstract	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 ...
Keywords	Pyruvate dehydrogenase complex deficiency ; Neurological dysfunction ; Lactic acidosis ; Mutational analysis ; Genotype–phenotype correlation ; Medicine ; R
Subject code	610 ; 616
Language	English
Publishing date	2020-10-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Suspended sediment transport patterns in the inner shelf â S. Pedro de Moel (Portugal)

Journal of sea research. 2014 Oct., v. 93

2014

Abstract: In order to quantify the physical forcing processes associated to sediment transport in the inner shelf, sequential moorings were placed in the three access cable routes connecting the Renewable Energy Experimental Zone (offshore S. Pedro Moel â W ... ...

Abstract	In order to quantify the physical forcing processes associated to sediment transport in the inner shelf, sequential moorings were placed in the three access cable routes connecting the Renewable Energy Experimental Zone (offshore S. Pedro Moel â W Portugal) to the shore. ADCP and LISST data were collected to quantify and establish suspended sediment transport patterns in two different seasonal conditions: September and December 2011. ADCP relative acoustic backscatter was calibrated using LISST suspended sediment concentration and grain size, allowing the integration of current, sediment and wave data. In most cases suspended sediment signatures in all three mooring sites respond mainly to locally induced wave resuspension. More complex dynamic interplay was found in the central mooring site where different finer and coarser sediment signatures were identified, most likely associated with the effect of the Lis River runoff and upwelling fluxes.
Keywords	acoustics ; data collection ; renewable energy sources ; rivers ; runoff ; sediment transport ; sediments ; suspended sediment ; Portugal
Language	English
Dates of publication	2014-10
Size	p. 47-56.
Publishing place	Elsevier B.V.
Document type	Article
ISSN	1385-1101
DOI	10.1016/j.seares.2014.04.009
Database	NAL-Catalogue (AGRICOLA)

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