Chotacabras cuellirrojo – Caprimulgus ruficollis Temminck, 1820

Aves - Orden Caprimulgiformes - Familia Caprimulgidae en la Enciclopedia Virtual de Vertebrados Españoles, http://www.vertebradosibericos.org/.A comprehensive review of the natural history of the Red-necked Nightjar in Spain.Peer reviewe

Germ line restricted B chromosomes in grasshoppers

Decades ago, the presence of extra chromosomes restricted to the male germ line in several grasshopper species was interpreted as recurrent polysomy, as experimental crosses suggested that the extra chromoso- mes were not transmitted from adult male parents to their embryo offspring. Under this hypothesis, polysomy was generated de novo through a nondisjunction for some chromosomes of the standard karyotype. In the current study, I test this hypothesis by analysing 17 families of tandem repeats (TRs) in two males of the grasshopper Chorthippus parallelus, which displays mosaicism for this kind of extra chromosome. According to the de novo polysomy hypothesis, the extra chromosomes should show the same FISH pattern for the TRs analysed as at least one of the A chromosomes. However, three TR families displayed patterns of FISH bands on the standard and extra chromosomes that ruled out the former as a possible source for the latter. Therefore, these extra chromosomes are best interpreted as B chromosomes restricted to the germ line, presumably present in both sexes, which are inherited as such and are not recurrently generated de novo from the A chromosomes. Key words: Extra chromosomes, FISH, polysomy, tandem repeat

Identification of genetic drivers of colorectal cancer via bioinformatics and machine learning

Machine learning methods have been widely used in a range of areas within genetics and genomics, it is maybe one of the most useful tools for the interpretation of large genomic data sets and has been used to annotate and analyse a wide variety of genomic sequence elements due to its ability to analyze and learn how to extract data insights from large heterogeneous data sets. In this work, we mainly focus on identifying gene markers that are associated with an increased risk of colorectal cancer (CRC) one of the most common cancers worldwide, showing the highest mortality. In this research, we look into feature selection methods based on variant relevancy toward the development of hereditary diseases. With this approach, we aim to find rel- evant frequently occurring variants and also rare variant occurrences, this way we will identify potentially valuable disease biomarkers. We analysed 8339 different variants and determined 765 to be relevant to CRC. We will also use feature clustering methods for the identification of co-occurrence between certain genetic variants, this will allow us to identify genetic links and non-co-occurring variants that are both rare and associated with an increased risk of development of CRC. Using this method we can determine differ- ent co-occurring variant groups with an additional one being composed of independent variants. We expect the identification of these gene markers to allow for better clinical manage- ment of the patients, namely due to the identification of genetic predispositions to CRC that will allow for a better risk assessment of patients and change the type of exams to be performed and their frequency, which will have a strong impact not only on their clinical screening but also on that of their family members, this can allow for early identification of tumours or even benign lesions, therefore contributing to CRC prevention. We believe that this study will contribute to the overall understanding of CRC causes and will further advance the study of its prevention. We also expect to give insights on how to identify the biological mechanisms underlying gene variant occurrences for not only CRC but also other hereditary cancer syndromes.Métodos de aprendizagem automática têm sido amplamente utilizados em diversas áreas dentro da genética e genômica. A aprendizagem automática é talvez uma das ferramentas mais úteis para a interpretação de grandes conjuntos de dados genômicos e tem sido usado para anotar e analisar uma ampla variedade de elementos de sequências genô- micas. A sua capacidade para analisar e aprender a extraindo informação de grandes conjuntos de dados heterogéneos. Vamos nos concentrar principalmente na identificação de marcadores genéticos que estão associados a um risco aumentado de cancro colo-retal (CCR), um dos cancros mais comuns em todo o mundo, apresentando uma das maiores mortalidades. Neste estudo, analisamos os métodos de feature selection com base na relevância da variante genética para o desenvolvimento de CCR. Com estes métodos, pretendemos en- contrar variantes relevantes que ocorrem com frequência e também variantes raras, desta forma identificaremos biomarcadores potencialmente valiosos. Analisamos 8339 varian- tes diferentes e determinamos que 765 são relevantes para o desenvolvimento de CCR. Também usaremos métodos de clustering de variantes genéticas para a identificação de correlação entre certas variantes genéticas, o que nos permitirá identificar ligações genéti- cas e ocorrências de variantes independentes que estão associadas a um risco aumentado de desenvolvimento de CCR. Usando esse método, determinamos que há 4 diferentes gru- pos de variantes relevantes, sendo um adicional composto por variantes independentes. Esperamos que a identificação destes marcadores genéticos permita uma melhor ges- tão clínica dos doentes, nomeadamente devido à identificação de predisposições genéticas para CCR que permitirão uma melhor avaliação do risco dos doentes e alterar o tipo de exames a serem realizados e a sua frequência, que terá forte impacto não só na sua triagem clínica, mas também na dos seus familiares, isto pode permitir a identificação precoce de tumores ou mesmo lesões benignas, contribuindo assim para a prevenção de CCR. Acreditamos que este estudo contribuirá para a compreensão geral das causas CCR e avançará o estudo da sua prevenção. Também esperamos fornecer métodos de como identificar os mecanismos biológicos subjacentes às ocorrências de variantes genéticas não apenas para CCR, mas também para outras síndromes de câncer hereditário

Juventud, trabajo y educación. El caso de Reus.

Sin resume

Spatio-Temporal Brain Dynamics of the Feeling of a Presence

The Feeling of a Presence (FoP) is the strange sensation of perceiving someone close by, when no one is actually there. Although it is not perceived in any of the usual senses it is described as a strong feeling. The random nature and short duration of this psychotic hallucination, that mostly affects neurological patients, has made it quite difficult to study it in controlled conditions. In 2014, a paper published by Olaf Blanke described the first experiment inducing the FoP in healthy individuals, achieved through sensorimotor mismatches generated by an illusory self-touch paradigm. Setting out to continue this investigation, we used the same robotic setup from 2014 that allows participants to stimulate themselves on the back, adding several protocols of synchronicity to study the temporal dynamics of the FoP. To address the neural correlates of the FoP, we used Electroencephalography (EEG) and a new strategy of data analysis, in the field of EEG, by applying a General Linear Model to our data. Our results show that the subjective experience of the Feeling of a Presence, grows in a sigmoidal fashion with increasing delays, doubling its appearance from 100 msec to 400 msec of delay. The applied model, revealed significant effects of, the experimental conditions of synchronicity and from the interaction of these and the subjective experience of the FoP. When analyzing the brain sources, our data shows that both Secondary Somatosensory Cortex and Inferior Parietal Lobule are less activated when experiencing the FoP (compared when not experiencing the FoP), at respective latencies that match the components P100 and N140. The presented data helps advance the knowledge of this psychotic trait. Studying the development of the FoP on healthy individuals, might lead to a better understanding of what happens in patients with positive symptoms of psychosis

Initial medication adherence in newly diagnosed glaucoma patients: three adherence measures

Aim: To determine initial medication adherence in newly diagnosed glaucoma patients treated with anti-glaucoma drugs. Methods: This retrospective and observational study included all patients diagnosed with glaucoma in the Primary Health Care units in Portugal during the years 2012 and 2013, which in consequence received a first prescription for anti-glaucoma drugs. Data were collected from electronic prescribing records of the primary care units and from pharmacy claims records. Initiation of glaucoma treatment and early discontinuation were measured, and the combination of (non)-initiation and early discontinuation accounted for the initial medication (non)-adherence. Results: A total of 3548 new glaucoma patients (40.1% male; 59.9% female) were included. 1133 (31.9%) patients were initially classified as non-users since there was no pharmacy claim found for their first prescription for glaucoma treatment. Additionally, 277 (11.5%) patients early discontinued their treatment, acquiring only their first prescription. Overall, the initial medication non-adherence rate was 39.7% since 1410 patients either didn't initiate treatment or discontinued it early. Conclusion: This study, reveals a major opportunity to improve glaucoma treatment and its control since a large proportion of patients fail to engage with their prescribed therapy, which implies that implementation of individual or group strategies that enable patients with glaucoma to correctly perform their treatment is still needed.info:eu-repo/semantics/publishedVersio

Persistence with medical glaucoma therapy in newly diagnosed patients

This project was partially supported by FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020).Background: Monotherapy, age, and side effects are significant risk factors for the discontinuation of antiglaucoma therapy. Long-term therapy persistence is crucial for slowing disease progression and preventing irreversible blindness. Therefore, it is essential to identify patients at higher risk of discontinuation. In this study, we aimed to evaluate the real-world persistence of antiglaucoma therapy in patients diagnosed with glaucoma in the primary healthcare units of the Lisbon and Tagus Valley regions. Methods: We conducted a retrospective longitudinal study by collecting data from the prescription records of new antiglaucoma drug users diagnosed with glaucoma between 2012 and 2013 in the Primary Health Care Units of the Lisbon and Tagus Valley Region. These patients were followed over 3 years. Therapy persistence was measured as the proportion of patients remaining on any antiglaucoma drug, regardless of any modifications or switching of drugs over time. Persistence was assessed at three time points: the end of the first, second, and third years of the observation period. Results: A total of 2138 patients treated using new antiglaucoma drugs (867 [40.6%] male patients; 1271 [59.4%] female patients) were included in the study. Over the observation period, the overall persistence rate decreased from 91.9% (n = 1965) in the first year to 67.3% (n = 1439) in the third year. Older patients (≥ 65 years) showed higher persistence rates, although there was a decrease over the 3-year follow-up period (from 1481 [92.7%] to 1124 [70.4%]). Additionally, participants initially treated with monotherapy showed higher persistence rates, ranging from 92.4% (n = 1186) in the first year to 70.2% (n = 901) in the third year. Conclusions: The findings highlight the importance of patient follow-up over time, as almost one in three new antiglaucoma therapy users completely discontinued treatment, potentially risking disease progression. This could be mitigated with proper use of these drugs. Further studies should utilize recent health information systems to explore the impact of medication adherence and persistence on the functional and structural outcomes in patients with glaucoma.info:eu-repo/semantics/publishedVersio

Madeira-a tourist destination for asthma sufferers

Madeira Island is a famous tourist destination due to its natural and climatic values. Taking into account optimal weather conditions, flora richness and access to various substrates facilitating fungal growth, we hypothesised a very high risk of elevated fungal spore and pollen grain concentrations in the air of Funchal, the capital of Madeira. Concentration levels of the most allergenic taxa were measured from 2003 to 2009, using a 7-day volumetric air sampler, followed by microscopy analysis. Dependence of bioaerosols on the weather conditions and land use were assessed using spatial and statistical tools. Obtained results were re-visited by a comparison with hospital admission data recorded at the Dr. Nélio Mendonça Hospital in Funchal. Our results showed that despite propitious climatic conditions, overall pollen grain and fungal spore concentrations in the air were very low and did not exceed any clinically established threshold values. Pollen and spore peak concentrations also did not match with asthma outbreaks in the winter. Identification of places that are "free" from biological air pollution over the summer, such as Madeira Island, is very important from the allergic point of view.info:eu-repo/semantics/publishedVersio