Browsing by Author "Pereira, A"
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- Adenocarcinoma Nasossinusal: Experiência do Serviço ORL do Hospital de BragaPublication . Breda, M; Miranda, D; Pereira, S; Silva, D; Pereira, A; Ribeiro, D; Marçal, N; Vilarinho, S; Dias, L
- A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A genePublication . Silva, N; Costa, M; Silva, A; Sá, C; Martins, S; Antunes, A; Marques, O; Castedo, S; Pereira, AWe report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.
- Chediak-Higashi syndrome: pathognomonic featurePublication . Antunes, H; Pereira, A; Cunha, I
- Echocardiographic assessment of a cardiac lymphoma: beyond two-dimensional imagingPublication . Gaspar, A; Salomé, N; Nabais, S; Brandão, A; Simões, A; Portela, C; Salgado, A; Pereira, A; Correia, ALymphoma is usually recognized as the third most frequent metastatic malignancy involving the heart. In recent years, the incidence of cardiac lymphoma has increased, mainly because of HIV-infected patients. We present a case of secondary cardiac lymphoma in an HIV patient presenting with heart failure. Transthoracic echocardiography showed increased left ventricular (LV) wall thickness and an extensive mass in the right cavities with involvement of the tricuspid annulus (Figure 1). Doppler tissue imaging (DTI) showed reduced systolic and diastolic velocities at mitral and tricuspid annulus, compatible with systolic and diastolic myocardial dysfunction, likely owing to infiltration. After 2 weeks of chemotherapy, repeated exam showed significant reduction of the tumour mass and of the LV wall thickness, as well as normalized systolic and diastolic velocities at mitral and tricuspid annulus, as assessed by DTI. Use of transthoracic echocardiography, mostly two-dimensional imaging, has been described for several years for the diagnosis of cardiac involvement as well as for the assessment of tumour regression in response to chemotherapy. The present case report highlights the potential utility of other echocardiographic modalities, particularly DTI, for the assessment of cardiac lymphoma but also for monitoring the tumour response to adequate therapy.
- Edema hemorrágico agudo infantilPublication . Pereira, T; Nunes, S; Vieira, AP; Sá, C; Pereira, A; Sousa-Basto, AO edema hemorrágico agudo infantil é uma forma rara de vasculite leucocitoclásica cutânea, que ocorre em crianças com menos de 4 anos de idade. As principais manifestações são lesões cutâneas purpúricas, edema periférico e febre. Apesar dos achados clínicos serem dramáticos, quer na aparência das lesões, quer na rapidez de instalação, o prognóstico permanece excelente, com recuperação espontânea em poucas semanas. A sua origem está pouco esclarecida, mas infecções subjacentes, fármacos e vacinas têm sido referidas como possíveis factores etiológicos. Descrevemos uma criança de 7 meses com quadro clínico e histológico típicos de edema hemorrágico agudo infantil que surgiu na sequência de uma infecção do tracto urinário, em tratamento com amoxicilina e ácido clavulâmico.
- Experiences During a Psychoeducational Intervention Program Run in a Pediatric Ward: A Qualitative StudyPublication . Magalhães, P; Mourão, R; Pereira, R; Azevedo, R; Pereira, A; Lopes, M; Rosário, PHospitalization, despite its duration, is likely to result in emotional, social, and academic costs to school-age children and adolescents. Developing adequate psychoeducational activities and assuring inpatients' own class teachers' collaboration, allows for the enhancement of their personal and emotional competences and the maintenance of a connection with school and academic life. These educational programs have been mainly designed for patients with long stays and/or chronic conditions, in the format of Hospital Schools, and typically in pediatric Hospitals. However, the negative effects of hospitalization can be felt in internments of any duration, and children hospitalized in smaller regional hospitals should have access to actions to maintain the connection with their daily life. Thus, this investigation aims to present a psychoeducational intervention program theoretically grounded within the self-regulated learning (SRL) framework, implemented along 1 year in a pediatric ward of a regional hospital to all its school-aged inpatients, regardless of the duration of their stay. The program counts with two facets: the psychoeducational accompaniment and the linkage to school. All the 798 school-aged inpatients (M age = 11.7; SD age = 3.71; Mhospital stay = 4 days) participated in pedagogical, leisure nature, and SRL activities designed to train transversal skills (e.g., goal-setting). Moreover, inpatients completed assigned study tasks resulting from the linkage between the students' own class teachers and the hospital teacher. The experiences reported by parents/caregivers and class teachers of the inpatients enrolling in the intervention allowed the researchers to reflect on the potential advantages of implementing a psychoeducational intervention to hospitalized children and adolescents that is: individually tailored, focused on leisure playful theoretically grounded activities that allow learning to naturally occur, and designed to facilitate school re-entry after hospital discharge. Parents/caregivers highlighted that the program helped in the preparation for surgery and facilitated the hospitalization process, aided in the distraction from the health condition, promoted SRL competences, and facilitated the communication and linkage with school life. Class teachers emphasized the relevance of the program, particularly in the liaison between hospital and school, in the academic and psycho-emotional and leisure-educational support provided, and in smoothing the school re-entry.
- Um final feliz: causa rara de hipotonia cervical em lactentePublication . Sampaio, B; Silva, A; Costa, JA; Pereira, A; Silva, H
- Novel ABCA3 mutations as a cause of respiratory distress in a term newbornPublication . Gonçalves, JP; Pinheiro, L; Costa, M; Silva, A; Gonçalves, A; Pereira, AWe report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
- Referral and coordination of healthcare from primary care to angiology and vascular surgery - a center's experiencePublication . Rocha Neves, J; Casal Moura, M; Ferreira, A; Sousa, J; Gamas, L; Vieira, M; Pereira, A; Alves, H; Teixeira, JINTRODUCTION: Minimally invasive revascularization of the left anterior descending coronary artery has gained popularity. Recently, the emergence of new surgical instruments and the improvement of the technique, allowed its use by routine. Its use in Heart Team allows excellent results. Our aim is to present the results of patients undergoing this technique in our center. METHODS: Retrospective study of patients submitted to minimally invasive revascularization of the left anterior descending coronary artery at our center. RESULTS: We identified 14 patients. The mean age was 67 years old. In the total of the procedures, 79% were elective and 21% urgent. The ventricular function was preserved in 86% of the patients. In the preoperative catheterization, 64% of the patients showed single disease of the anterior descending coronary artery, 29% had trunk lesions and 3 vessels and 7% had lesion of 2 vessels. The mean Euroscore II was 4.8%. The mean time of surgery was 103 minutes with a mean blood loss of 250mL. The main complications were wound dehiscence and revision of hemostasis. The mean hospitalization rate was 6.2 days. The hospital survival rate was 100%. CONCLUSION: Minimally invasive revascularization allows coronary artery bypass grafting with the best conduit. Revascularization may be total in single disease of the left anterior descending artery, or in case of multivessel disease, achieved with hibrid revascularization, with angioplasty of the remaining vessels. This technique has shown to be promising and safe, being the discussion in Heart Team of the patient candidates essential for achieving the best results.