Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). We here describe a 25-year-old woman with severe central hypoventilation triggered by analgesics. Genetic analysis confirmed the diagnosis of adult-onset CCHS caused by a heterozygous de novo poly-alanine repeat expansion of the PHOX2B gene. She was treated with nocturnal non-invasive ventilation. We reviewed the literature and found 21 genetically confirmed adult-onset CCHS cases. Because of the risk of deleterious respiratory complications, adult-onset CCHS is an important differential diagnosis in patients with central hypoventilation

In de schaduw van de toren. Resultaten van het archeologisch onderzoek van het Sint-Romboutskerkhof in Mechelen (basisrapportage)

Dit rapport werd ingediend bij het agentschap samen met een aantal afzonderlijke digitale bijlagen. Een aantal van deze bijlagen zijn niet inbegrepen in dit pdf document en zijn niet online beschikbaar. Sommige bijlagen (grondplannen, fotos, spoorbeschrijvingen, enz.) kunnen van belang zijn voor een betere lezing en interpretatie van dit rapport. Indien u deze bijlagen wenst te raadplegen kan u daarvoor contact opnemen met: [email protected]

Handwritten Text Recognition for Historical Documents in the tranScriptorium Project

""© Owner/Author 2014. This is the author's version of the work. It is posted here for your personal use. Not for redistribution. The definitive Version of Record was published in ACM, In Proceedings of the First International Conference on Digital Access to Textual Cultural Heritage (pp. 111-117) http://dx.doi.org/10.1145/2595188.2595193Transcription of historical handwritten documents is a crucial problem for making easier the access to these documents to the general public. Currently, huge amount of historical handwritten documents are being made available by on-line portals worldwide. It is not realistic to obtain the transcription of these documents manually, and therefore automatic techniques has to be used. tranScriptorium is a project that aims at researching on modern Handwritten Text Recognition (HTR) technology for transcribing historical handwritten documents. The HTR technology used in tranScriptorium is based on models that are learnt automatically from examples. This HTR technology has been used on a Dutch collection from 15th century selected for the tranScriptorium project. This paper provides preliminary HTR results on this Dutch collection that are very encouraging, taken into account that minimal resources have been deployed to develop the transcription system.The research leading to these results has received funding from the European Union’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 600707 - tranScriptorium and the Spanish MEC under the STraDa (TIN2012-37475-C02-01) research project.Sánchez Peiró, JA.; Bosch Campos, V.; Romero Gómez, V.; Depuydt, K.; De Does, J. (2014). Handwritten Text Recognition for Historical Documents in the tranScriptorium Project. ACM. https://doi.org/10.1145/2595188.2595193

Modelling frequency and attestations for OntoLex-Lemon

The OntoLex vocabulary enjoys increasing popularity as a means of publishing lexical resources with RDF and as Linked Data. The recent publication of a new OntoLex module for lexicography, lexicog, reflects its increasing importance for digital lexicography. However, not all aspects of digital lexicography have been covered to the same extent. In particular, supplementary information drawn from corpora such as frequency information, links to attestations, and collocation data were considered to be beyond the scope of lexicog. Therefore, the OntoLex community has put forward the proposal for a novel module for frequency, attestation and corpus information (FrAC), that not only covers the requirements of digital lexicography, but also accommodates essential data structures for lexical information in natural language processing. This paper introduces the current state of the OntoLex-FrAC vocabulary, describes its structure, some selected use cases, elementary concepts and fundamental definitions, with a focus on frequency and attestations

The Database of the Southern Dutch Dialects: new opportunities for digital lexicological research

The Southern Dutch dialect area consists of four dialect groups; the Flemish, Brabantic, Limburgian and the Zeeland dialects, partly found in the Netherlands, in Belgium and in NordPas-de-Calais (France). Each of these dialects has been described in a separate dictionary. The Flemish, Brabantic and Limburgian dialect dictionaries are similarly constructed onomasiological dialect dictionaries, whereas the Zeeland dialect dictionary is semasiologically arranged. The Database of the Southern Dutch Dialects (DSDD) project, initiated by Ghent University and undertaken in close collaboration with the Dutch Language Institute, aimed to combine the onomasiological dictionaries into one platform accessible for both dialect researchers and a wider audience. Following the launch of the DSDD platform in 2020, dialect researchers can now make use of extensive search functionalities and geo-visualise their results on an interactive map. The DSDD enables searching for individual dialect words (e.g. puit 'frog'), for all dialect words from a certain municipality or region (e.g. all dialect words from the city of Antwerp) or for all dialect words belonging to a certain concept (e.g. 'frog') or theme (fauna). Filters are available to make the search query as accurate as possible. Based on the search results, interactive maps can be compiled, visualising the data in its geographical setting. The results can be clustered in various ways, using, for instance, frequency or etymologically related entries. The maps are flexible enabling the user, for example, to select the required level of detail to be visualised for the chosen region. A set of symbols and colours is available and can be arranged according to the user’s needs. The area map can be enlarged or reduced in size and printed or downloaded as a PDF file. In the future, the alphabetical dialect data from the Woordenboek der Zeeuwse Dialecten will be added to the platform. References Van Keymeulen, J., V. De Tier, R. Vandenberghe & S. Chambers (2019), The dictionary of the Southern Dutch Dialects (DSDD): designing a virtual research environment for digital lexicological research. in: Dialectologia. Special issue, 8 (2019), 93-115

tranScriptorium: a european project on handwritten text recognition

The tranScriptorium project aims to develop innovative, efficient and cost-effective solutions for annotating handwritten historical documents using modern, holistic Handwritten Text Recognition (HTR) technology. Three actions are planned in tranScriptorium: i) improve basic image preprocessing and holistic HTR techniques; ii) develop novel indexing and keyword searching approaches; and iii) capitalize on new, user-friendly interactive-predictive HTR approaches for computer-assisted operation.The research leading to these results has received funding from the European Union’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 600707 - tranScriptorium.Sánchez Peiró, JA.; Mühlberger, G.; Gatos, B.; Schofield, P.; Depuydt, K.; Davis, RM.; Vidal, E.... (2013). tranScriptorium: a european project on handwritten text recognition. ACM. https://doi.org/10.1145/2494266.2494294

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the DNA damage response pathway. The aim of this study was to investigate whether healthy BRCA1 mutations carriers demonstrate an increased radiosensitivity compared with healthy individuals. Methods: We defined a novel radiosensitivity indicator (RIND) based on two endpoints measured by the G2 micronucleus assay, reflecting defects in DNA repair and G2 arrest capacity after exposure to doses of 2 or 4 Gy. We investigated if a correlation between the RIND score and nonsense-mediated decay (NMD) could be established. Results: We found significantly increased radiosensitivity in the cohort of healthy BRCA1 mutation carriers compared with healthy controls. In addition, our analysis showed a significantly different distribution over the RIND scores (p = 0.034, Fisher’s exact test) for healthy BRCA1 mutation carriers compared with non-carriers: 72 % of mutation carriers showed a radiosensitive phenotype (RIND score 1–4), whereas 72 % of the healthy volunteers showed no radiosensitivity (RIND score 0). Furthermore, 28 % of BRCA1 mutation carriers had a RIND score of 3 or 4 (not observed in control subjects). The radiosensitive phenotype was similar for relatives within several families, but not for unrelated individuals carrying the same mutation. The median RIND score was higher in patients with a mutation leading to a premature termination codon (PTC) located in the central part of the gene than in patients with a germline mutation in the 5′ end of the gene. Conclusions: We show that BRCA1 mutations are associated with a radiosensitive phenotype related to a compromised DNA repair and G2 arrest capacity after exposure to either 2 or 4 Gy. Our study confirms that haploinsufficiency is the mechanism involved in radiosensitivity in patients with a PTC allele, but it suggests that further research is needed to evaluate alternative mechanisms for mutations not subjected to NMD

The ParlaMint corpora of parliamentary proceedings

This paper presents the ParlaMint corpora containing transcriptions of the sessions of the 17 European national parliaments with half a billion words. The corpora are uniformly encoded, contain rich meta-data about 11 thousand speakers, and are linguistically annotated following the Universal Dependencies formalism and with named entities. Samples of the corpora and conversion scripts are available from the project’s GitHub repository, and the complete corpora are openly available via the CLARIN.SI repository for download, as well as through the NoSketch Engine and KonText concordancers and the Parlameter interface for on-line exploration and analysis