Comunicação numa editora universitária: relatório de estágio em edição na Imprensa da Universidade de Coimbra

O presente relatório, resultado do estágio curricular realizado entre 18 de fevereiro e 21 de junho de 2019 no âmbito do Mestrado em Estudos Editoriais, pretende descrever as atividades concretizadas na Imprensa da Universidade de Coimbra (IUC). Na primeira parte, será retratada brevemente a história primordial e contemporânea da IUC na sua identidade como “fénix editorial”. Na segunda parte, serão descritas as tarefas desenvolvidas na IUC durante os quatro meses, tais como revisão e normalização textual, pedido de ISBN e de CIP, pedido de orçamento a gráficas, elaboração de contratos de edição e carregamento de obras na plataforma UC Digitalis com ativação de DOI. A terceira parte procura explorar uma oportunidade de maior investimento por parte da editora – a comunicação digital – apoiando-se numa base teórica para demonstrar a mais-valia que o marketing digital poderá trazer a uma editora universitária. Através da análise do marketing-mix da IUC, particularmente a evolução das ações de comunicação implementadas nos últimos dez anos (2009-2019), e da observação de estratégias utilizadas por outras editoras universitárias, apresentam-se, por fim, uma série de sugestões passíveis de ser implementadas, as quais, na minha opinião, auxiliariam e fortaleceriam a estratégia de comunicação digital da IUC.The present report is the result of the curricular internship held between February 18 and June 21, 2019 within the Master in Editorial Studies of the University of Aveiro. Its aim is to describe the activities carried out at Coimbra University Press (CUP). In the first part, the early and contemporary history of CUP will be briefly presented, focusing on its identity as an “editorial phoenix”. The second part will describe the tasks developed at CUP during these four months, such as proofreading, requesting ISBNs and CIPs for books, submitting quotation requests to printing companies, drafting publishing contracts, and uploading some works of CUP’s catalog to the online platform UC Digitalis along with DOI activations. The third part seeks to explore an opportunity for greater investment by this publishing house – digital communication – relying on a theoretical framework to demonstrate the added value that digital marketing can bring to a university press. Through the analysis of CUP’s marketing mix, particularly the evolution of its communication strategies in the last ten years (2009–2019), and the observation of tactics used by other university presses, the report ends with a series of practical and feasible suggestions which, in my opinion, could aid and strengthen CUP's digital communication strategy.Mestrado em Estudos Editoriai

Overproduction, crystallization and preliminary X-ray characterization of Abn2, an endo-1,5-alpha-arabinanase from Bacillus subtilis.

Acta Crystallographica F64 (2008) 636-638Two Bacillus subtilis extracellular endo-1,5-alpha-L-arabinanases, AbnA and Abn2, belonging to glycoside hydrolase family 43 have been identified. The recently characterized Abn2 protein hydrolyzes arabinan and has low identity to other reported 1,5-alpha-L-arabinanases. Abn2 and its selenomethionine (SeMet) derivative have been purified and crystallized. Crystals appeared in two different space groups: P1, with unit-cell parameters a = 51.9, b = 57.6, c = 86.2 A, alpha = 82.3, beta = 87.9, gamma = 63.6 degrees , and P2(1)2(1)2(1), with unit-cell parameters a = 57.9, b = 163.3, c = 202.0 A. X-ray data have been collected for the native and the SeMet derivative to 1.9 and 2.7 A resolution, respectively. An initial model of Abn2 is being built in the SeMet-phased map.This work was partially supported by grant No. POCI/AGR/60236/2004 from Fundacao para a Ciencia e Tecnologia (FCT) and FEDER to IdS-N and fellowship SFRH/BD/18238/2004 from FCT to JMI

Metastatic Renal Cell Carcinoma: The Importance of Immunohistochemistry in Differential Diagnosis

Introduction: Clear cell carcinoma accounts for 75% of all types of renal neoplasms. Approximately one third presents with metastatic disease at diagnosis. Immunohistochemical studies play a significant diagnostic role. Case Report: We report the case of a 48-year-old heavy smoker who presented with productive cough and progressive dyspnea. The study revealed a renal mass and lung alterations compatible with primary tumor of the lung. The patient underwent a right complete nephrectomy. The anatomopathological exam showed clear cell renal carcinoma (pT1bN0Mx). After transthoracic needle aspiration biopsy, the clinical diagnosis was stage IV adenocarcinoma of the lung. Initially, the patient received one cycle of chemotherapy (cisplatin/pemetrexed). Two weeks later, the immunohistochemistry tests revealed a secondary lesion with probable renal origin. Chemotherapy was stopped and the patient was started on sunitinib treatment. After two cycles the disease progressed. A second-line treatment with everolimus was proposed; however, the patient died 2 weeks later due to terminal respiratory insufficiency. Discussion: Clear cell renal cell carcinoma remains one of the great mimickers in pathology. Immunohistochemistry is a valuable tool in the differential diagnosis of lung carcinomas. With the help of thyroid transcription factor 1, it is possible to distinguish a primary lung tumor from a metastasis with a reasonable degree of certainty. The present case report illustrates the challenge of making a definitive and adequate diagnosis. The immunohistochemistry added information that changed the whole treatment strategy. For the best treatment approach, it is fundamental that clinicians await all possible test results, before establishing a treatment plan

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so far, association of clinical phenotypes with genotypes can be very challenging, and molecular diagnosis is essential for genetic counseling and correct management of the disease. In addition, the prevalence and the assortment of IRD mutations are often population-specific. In this work, we examined 230 families from Portugal, with individuals suffering from a variety of IRD diagnostic classes (270 subjects in total). Overall, we identified 157 unique mutations (34 previously unreported) in 57 distinct genes, with a diagnostic rate of 76%. The IRD mutational landscape was, to some extent, different from those reported in other European populations, including Spanish cohorts. For instance, the EYS gene appeared to be the most frequently mutated, with a prevalence of 10% among all IRD cases. This was, in part, due to the presence of a recurrent and seemingly founder mutation involving the deletion of exons 13 and 14 of this gene. Moreover, our analysis highlighted that as many as 51% of our cases had mutations in a homozygous state. To our knowledge, this is the first study assessing a cross-sectional genotype-phenotype landscape of IRDs in Portugal. Our data reveal a rather unique distribution of mutations, possibly shaped by a small number of rare ancestral events that have now become prevalent alleles in patients

Bacillary Prostatitis after Intravesical Immunotherapy: A Rare Adverse Effect

Nowadays, the most efficient form of intravesical immunotherapy for superficial transitional cell carcinoma of the urinary bladder is the instillation of bacillus Calmette-Guérin (BCG), proceeding from an attenuated strain of Mycobacterium bovis. In up to 40% of cases, its instillation is associated with significantly elevated prostate-specific antigen (PSA) levels. In these cases, prostate biopsy should be withheld for 3 months and PSA should be monitored. Bacillary prostatitis is a rare occurrence in patients treated with intravesical BCG immunotherapy. Although symptomatic bacillary prostatitis is even rarer, it is the worst type of this condition. The aims of this study are to report a case of bacillary prostatitis as a rare adverse effect of intravesical BCG immunotherapy and to make a theoretical review about how to manage this complication. A 58-year-old man, former smoker, underwent a transurethral resection of the bladder in February 2004 because of a papillary transitional cell carcinoma of the bladder (pT1G2N0M0). After surgery, BCG instillation therapy was given in a total of 15 instillations, the last one in March 2007. In the last 3 months of therapy, until May 2007, a progressive increase in his PSA level was registered, and he underwent a prostate biopsy revealing granulomatous prostatitis of bacillary etiology. The semen culture was positive for M. bovis. After 3 months of a two-drug (isoniazid and rifampin) antituberculous regimen, the semen culture became negative and the PSA level decreased. The early identification of intravesical BCG immunotherapy complications allows their effective treatment. However, when a histological diagnosis of asymptomatic granulomatous prostatitis is made, the execution and type of treatment are controversial

Adaptação do processo RVCC-NS aos adultos com dificuldades auditivas

Trabalho de projecto de mestrado, Ciências da Educação (Formação de Adultos), Universidade de Lisboa, Instituto de Educação, 2012Neste projecto, desenvolvido no âmbito do Mestrado em Ciências da Educação – Área de Especialização em Educação/Formação de Adultos, apresenta-se uma proposta de intervenção no Centro Novas Oportunidades da Escola Secundária Dr. Francisco Fernandes Lopes, no sentido de adaptar o Processo RVCC–NS aos adultos com dificuldades auditivas. A presente proposta de intervenção apresenta como ponto de partida um balanço reflexivo da minha experiência enquanto formadora de adultos, essencialmente no que respeita ao contacto com formandos com dificuldades auditivas. Perante as dificuldades encontradas no contacto com estes adultos, surgiu o interesse em adaptar o processo RVCC_NS aos candidatos com este tipo de dificuldade. O projecto fundamenta-se, teoricamente, na evolução histórica e conceptual da educação e formação de adultos e no enquadramento legislativo da educação de surdos em Portugal. Foi dado principal destaque à legislação no âmbito da Iniciativa Novas Oportunidades, cuja missão é assegurar a todos os cidadãos uma oportunidade de qualificação e de certificação, de nível básico e secundário, de acordo com o seu perfil e necessidades específicas. No que respeita a candidatos com Necessidades Educativas Especiais, nomeadamente dificuldades auditivas, continuam-se a sentir algumas lacunas que têm dificultado a resposta pretendida. Nesse sentido, foram definidas algumas estratégias de intervenção que permitirão dar uma resposta mais adequada a este público. Para alcançar os objectivos pretendidos deste projecto, procedeu-se à recolha de informação junto dos envolvidos no processo, nomeadamente, adultos certificados, adultos inscritos e equipa técnico-pedagógica do Centro. A análise dos dados recolhidos permitiu obter alguma informação pertinente relativamente à forma como devem ser conduzidos os processos RVCC-NS dos adultos com dificuldades auditivas.This project, developed under the Master in Science of Education with a specialization in Adult Education, presents an intervention proposal for the New Opportunities Center in Dr. Francisco Fernandes Lopes Secondary School, in order to adapt the RVCC-NS process to adults with listening disabilities. This intervention proposal presents a reflexive balance of my experience as an adult educator, especially regarding the contact with adults with listening disabilities. Along with the difficulties felt, came the interest in adapting the RVCC-NS process to deaf or hard of hearing candidates. The theoretical foundation of this project is based on the historical and conceptual development of adult education and training and the legislative framework for deaf students’ education in Portugal. Main emphasis was given to New Opportunities Initiative legislation, which aims to assure an educational qualification and certification opportunity to all citizens, according to their profile and their needs. Regarding candidates with Special Educational Needs, including listening disabilities, there are still some gaps which have been hindering the desired goal. Some strategies of intervention where defined, which will allow a more effective response to these candidates. In order to achieve the goals of the project, data has been collected from those involved in the process, including certified adults, enrolled adults and the technicalpedagogical team of the Center. The analysis of the collected data showed how the RVCC-NS processes for adults with listening disabilities should be conducted

The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?

The 15q11.2-q13 region has been well characterized, being associated with a range of syndromatic copy number variants (CNVs), and comprises five established break points sites (BP1 to BP5). While the clinical effect for BP1-BP3, BP2-BP3 and BP4-BP5 CNVs is well established, the same cannot be said for BP1-BP2 CNVs. Recently the 15q11.2 BP1-BP2 deletion has been reviewed, emerging as a microdeletion syndrome with low penetrance and variable expressivity being the CNV frequently inherited from a healthy parent. This microdeletion is considered to be a risk factor for several neurodevelopment disorders. For the reciprocal duplication the picture has been less conclusive. Aiming for a better understanding of the clinical significance of this CNV, we collected patients with intellectual disability and/or other clinical features, referred for microarray testing, gathering clinical details for the ones with the duplication. Data was collected from two genetic laboratories. With a total of 1545 patients, we identified eleven carrying the duplication at 15q11.2 BP1-BP2. It was possible to assess inheritance in only four cases, all inherited from a healthy parent. All patients presented intellectual disability,and facial dysmorphism was the second most common feature observed. Microcephaly, autism, congenital abnormalities, dystonia and cataplexy where reported individually. The magnitude of the effect of 15q11.2 duplication remains elusive, and the outcome unclear, posing a major challenge to genetic counseling. Nevertheless, we expect the collection of more of these cases will establish this gain, as it happened with the reciprocal deletion, as a microduplication syndrome with low penetrance and variable expressivity

Breast Cancer Presents with a Paraneoplastic Neurologic Syndrome

Background: Paraneoplastic neurologic syndromes (PNS) pose quite an uncommon neurological complication, affecting less than 1% of patients with breast cancer. Nearly one third of these patients lack detectable onconeural antibodies (ONAs), and improvement in neurologic deficits with concomitant cancer treatments is achieved in less than 30% of cases. Case Presentation: A 42-year-old, premenopausal woman presented with facial paralysis on the central left side accompanied by a left tongue deviation, an upward vertical nystagmus, moderate spastic paraparesis, dystonic posturing of the left foot, lower limb hyperreflexia and bilateral extensor plantar reflex. After ruling out all other potential neurologic causes, PNS was suspected but no ONAs were found. A PET-CT scan detected increased metabolism in the right breast, as well as an ipsilateral thoracic interpectoral adenopathy. Core biopsy confirmed the presence of an infiltrating duct carcinoma. After breast surgery, the neurologic symptoms disappeared. One week later, the patient was readmitted to the hospital with a bilateral fatigable eyelid ptosis, and two weeks later, there was a noticeable improvement in eyelid ptosis, accompanied by a rapid and progressive development of lower spastic paraparesis. She started adjuvant treatment with chemotherapy with marked clinical and neurological improvement, and by the end of radiotherapy, there were no signs of neurologic impairment. Conclusion: This case study highlights the importance of a high level of vigilance for the detection of PNS, even when ONAs are not detected, as the rapid identification and treatment of the underlying tumor offers the best chance for a full recovery