Accumulated evidence supports the contribution of genetic factors in modulating airway function, especially ancestry. We investigated whether genetic polymorphisms can affect lung function in a mixed Brazilian child population using the admixture mapping strategy through RFMix software version 1.5.4 (Stanford University, Stanford, CA, USA), followed by fine mapping, to identify regions whereby local African or European ancestry is associated with lung function measured by the forced expiratory volume in the first second (FEV1)/forced vital capacity (FVC) ratio, an indicator of airway obstruction. The research cohort included 958 individuals aged 4 to 11 years enrolled in the SCAALA (Social Change, Asthma, Allergy in Latin America) Program. We identified that African ancestry at 17q21.31, 10q22.2, and 2p23.1 regions was associated with lower lung function measured by FEV1/FVC p < 1.9 × 10−4. In contrast, European ancestry at 17q21.31 showed an opposite effect. Fine mapping pointed out 5 single nucleotide polymorphisms (SNPs) also associated in our replication cohort (rs10999948, rs373831475, rs8068257, rs6744555, and rs1520322). Our results suggest that genomic regions associated with ancestry may contribute to differences in lung function measurements in African American children in Brazil replicated in a cohort of Brazilian adults. The analysis strategy used in this work is especially important for phenotypes, such as lung function, which has considerable disparities in terms of measurements across different populations.
ACKNOWLEDGMENTSI would like to start from thanking my supervisor, Professor Carlos Jerónimo, for all the support provided, availability, encouragement, guidance, and knowledge shared throughout this whole process. More than a professor, Professor Carlos Jerónimo represents a mentor to me, who is a reference and an inspiration for my professional life.A genuine thank you to my parents and brother, who have always supported me during my path as a management student, being always present to give me encouragement, motivation and provide good energies and so much love. You are the biggest loves of my life. A very special thank you to my boyfriend Hugo, for all the weekends and working days we spent together, always supporting each other, helping each other, encourage each other, motivate each other, and laugh with each other. I love you. To my lovely family, a huge thank you for always being on my side to support me and demonstrate the pride you have on me. To my shining star, who would be so proud to watch me accomplish this achievement, you truly have been a big strength throughout my life and I want to dedicate this to You, my dear grandpa.To my colleagues from ISCTE, that more than colleagues we become true friends, we were all together in this journey, and I am so proud of us for this achieving.To my dear friends, despite I haven't spent much time with you this last year, thank you for supporting me and give me strength, and especially for you friendship.Last but not least, the development of this dissertation was only possible with the participation and contribution of the management professionals. To all of you, who have such a busy life and welcomed me with so much empathy and responsiveness, I would like to express my genuine gratitude.A truly thank you all! ii SUMMARY In a world characterized by intense competition, outsourcing has infiltrated the management world in a major way. Outsourcing services are becoming an increasingly important source to companies focus on their core competencies, reduce costs, and increase efficiency in several organizational functions.Even though outsourcing of business activities has become a prevalent practice amongst organizations, the literature provides only a one-dimensional view of the phenomenon by focusing on the service receivers' perspectivesbuyer.This dissertation overcomes this weakness by investigate and analyze the business models of outsourcing companiesvendor -as a way to understand how they reach a sustainable competitive advantage that differentiates them in a competitive market. Hence, the whole investigation explores the service provider's perspectives by conducting interviews to 16 top executives from 15 different outsourcing companies in Portugal.The findings suggest that all the organizations presented in the study face the same challenges/pains in the market and each of them manifest an exclusive combination of mechanisms, methods, strategies and approaches within their business models to be differentiated in the market and sustainable in terms of effici...
Funding Acknowledgements Type of funding sources: None. Introduction 8-40% of patients with acute ST-elevation myocardial infarction (STEMI) present later than 12 hours after symptom onset. According to guidelines these late presenters maintain indication for primary percutaneous coronary intervention (PCI) when there are signs of ongoing ischemia. However, it prevails uncertainty in relation to the best approach in stable late presenters. Aims Describe the profile of stable late STEMI presenters and evaluate the trends of reperfusion decision in the Portuguese reality; compare early term outcomes between patients submitted to emergent primary PCI and those in which it was preferred an initial conservative approach. Methods Retrospective analysis of patients with STEMI presenting ≥12-48h hours after the beginning of the symptoms between October 2010 and December 2019 without evidence of ongoing ischemia, inserted in a national registry of acute coronary syndromes. Patients were dichotomized and compared according to whether or not were submitted to emergent reperfusion based on primary PCI. Results 274 patients were included (2.3% of all STEMI), predominantly men (67.5%), with a mean age of 68±13 years old. Emergent PCI was performed in a minority (15.7%; n=43); even so, coronarography ended up being executed in 61.3% of the admissions, with angioplasty performed in 47.1% of the cases. Right coronary artery was the most common intervened vessel (50.8%). Inotropes were necessary in 4.6% of the patients, with no reports of ventricular assistance device use. Mean ejection fraction was 51±12% with no differences between groups. Patients submitted to emergent PCI (15.7%) had a lower prevalence of atrial fibrillation (0 vs. 9.3%, p=0.04) and had more commonly electrocardiographic criteria for anterior STEMI (64.3% vs. 41.4%, p=0.006). Nitrates were significantly less prescribed at discharge in this subgroup (4.9% vs. 26.8%; p=0.002). Apart from aborted cardiac arrest, that was more prevalent in patients submitted to emergent reperfusion (4.8% vs. 0.9%, p=0.12), it was observed a tendency toward a lower percentage in this subgroup in all other early hard clinical outcomes such as re-infarction (0 vs. 0.4%, p=1.00), mechanical complications (0 vs. 2.2%; p=1.00), sustained ventricular tachycardia (0 vs. 0.9%, p=1.00) and in-hospital death (0% vs. 4.4%, p=0.37). However, none of the differences have reached statistical significance. Conclusion The study shows that, in the Portuguese reality, emergent reperfusion is adopted in only a minority of late stable STEMI patients, with a clear tendency to perform it more frequently in subacute anterior STEMI. Emergent PCI strategy did not show a clear benefit in terms of left ventricular function, risk of re-infarction, arrhythmic and mechanical complications, and in-hospital death. On the other hand, there was apparently a significant advantage of this strategy in ischemic symptom control.
Background Behçet’s syndrome is a multisystemic vasculitis of unknown aetiology. Cardiac involvement is rare, with described prevalence between 1% and 46%, with pericarditis, valvular insufficiency, intracardiac thrombosis, and eventually sinus of Valsalva aneurysms being the most common findings. Although previously reported, myocarditis is a very rare complication of Behçet’s syndrome. Case summary A 26-year-old man, smoker but otherwise healthy, was admitted to the emergency department with atypical chest pain, with no radiation, relation to efforts, position or deep inspiration, and dyspnoea, since the day before. His physical examination was unremarkable, including no fever, tachycardia, or pericardial friction rub. Electrocardiogram (ECG) revealed an early repolarization pattern, with no changes noted in subsequent exams. He had elevation of inflammatory parameters and an increased high-sensitivity troponin level of 3300 ng/L. Transthoracic echocardiography (TTE) was unremarkable. Coronary angiography showed no coronary stenosis. A presumed diagnosis of non-complicated viral myocarditis was established. The patient’s condition improved with acetylsalicylic acid as needed and colchicine and he was discharged after 3 days. Cardiac magnetic resonance was performed, showing late epicardial enhancement in the apical segment of the lateral wall, supporting the diagnosis of myocarditis. Four months later, the patient returned with recurrence of chest pain. Additionally, he also complained of fever, odynophagia, and otalgia since the previous week. Oropharyngeal examination revealed tonsillar pillars aphthosis. The ECG was similar to the previous and TTE was normal. Bloodwork revealed once again elevation of inflammatory parameters and elevation of troponin. Recurrent myocarditis was diagnosed. Treatment with ibuprofen, colchicine, and antibiotic therapy was started with no significant improvement. After a more thorough physical examination, an ulcerated scrotal lesion, a left buttock folliculitis, and an axillary hidradenitis were found, which, according to the patient, were recurrent in the last year. Accordingly, the diagnosis of Behçet’s syndrome with mucocutaneous and cardiac involvement was established. The patient was kept on colchicine and was also started on immunosuppressive therapy with corticosteroids and azathioprine, with resolution of the symptoms in the following day. A positron emission tomography (PET) was performed 2 days after discharge and showed a higher myocardial uptake in the left ventricular basal segments and both papillary muscles. Prednisolone tapering was started after 2 months, while maintaining azathioprine. At 1-year follow-up, the patient remained asymptomatic. A re-evaluation PET was performed, showing no images suggestive of metabolically active disease in the myocardium. Discussion This case highlights the importance of awareness of this rare but potentially serious entity and reinforces the significance of aetiology investigation in cases of recurrent myocarditis. It also shows the success of immunosuppressive therapy in a context where the optimal management is still considerably uncertain.
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