Marta Canas Marques

EPA-1294 - Living with dementia: a review of the influence of sense of coherence

Introduction Antonovskys salutogenic construct of sense of coherence (SOC) includes the dimensions of meaningfulness, comprehensibility and manageability. SOC is assumed to promote and protect health in stressful situations, such as the adaptation to severe illness. There is highquality evidence on this in several areas of mental health, and one could expect dementia to be one of them. Objectives/Aims We conducted a literature review to uncover the role of SOC as moderator or mediator in the ability of patients and their partners to cope with the impact of dementia. Methods We searched the major databases (1994-2012), using selection criteria, data extraction and methodological quality assessment. Nvivo10 software was used to accomplish a rigorous literature review. Results The SOC within the dementia context has been explored in 8 different countries. Some studies addressed the caregivers SOC, but the focus on the person with dementia and a systemic perspective on couples remain largely neglected. There were significant associations between SOC and lower caregivers burden, and between SOC and higher caregivers perceived health and quality of life, namely in advanced dementia. Conclusions There is a dearth of research-based discussions of the SOC role in living with dementia. Results highlight the importance of studying couples, in a dyadic perspective, while acknowledging the voice of the patients themselves, despite several methodological challenges. Research should address the role of SOC in the individual and familys ability to cope with dementia, especially at the early stages of the process, aiming to provide new insights into dementia care.

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.

Novel Splice-Site Mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family Helena Sim~oes-Teixeira, Tiago D. Matos, Marta Canas Marques, Óscar Dias, M ario Andrea, Eduardo Barreiros, Lu ıs Barreiros, Felipe Moreno, Graça Fialho, Helena Caria, and Ignacio del Castillo* Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal Unidad de Gen etica Molecular, Hospital Universitario Ram on y Cajal, IRYCIS, Madrid, Spain ORL Service, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal Centro de Investigaci on Biom edica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Higher School of Health, Polytechnic Institute of Set ubal, Set ubal, Portugal

Quadricuspid aortic valve associated with two left main coronary ostia

Quadricuspid aortic valves (QAV) are associated with an increased incidence of aortic insufficiency (AI) and coronary artery anomalies. We present images of a patient withQAV andAIwith two separate left coronary ostia. A 50-year-old female with a known QAV and AI was referred for aortic valve replacement due to progressive left ventricular (LV) enlargement and declining LV function on serial transthoracic echocardiograms (Figure 1). A computed tomography coronary angio revealed two separate left coronary ostia supplying the left anterior descending and left circumflex coronary arteries (Figures 2 and 3). At the time of surgery, these anomalies were confirmed (Figures 4-6) and the aortic valve was replaced with a #21 St. Jude Regent mechanical valve (Abbott Inc., Abbott Park, IL). The patient tolerated the procedure well and had an uncomplicated postoperative course. DECLARATIONS

Congenital Heart Disease in Children with Down Syndrome: What Has Changed in the Last Three Decades?

INTRODUCTION The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease. MATERIAL AND METHODS A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery. OBJECTIVE to assess the progress in the last three decades of cardiological care given to children with Down syndrome and congenital heart disease. RESULTS We studied 102 patients with Down syndrome and congenital heart disease subjected to invasive therapy: corrective or palliative cardiac surgery and therapeutic catheterization. The referral age was progressively earlier in patients referred in the first year of life. The most frequent diagnosis was complete atrioventricular sptal defect (41%). There was a trend towards increasingly early corrective surgery in patients under 12 months (p < 0.001). Since 2000, the large majority of patients were operated before reaching six months of age. The main cardiac complications were rhythm dysfunction and low output. More frequent noncardiac complications were pulmonary and infectious. The 30-day mortality rate was 3/102 cases (2.9%). Of patients in follow-up, 89% are in NYHA class I. DISCUSSION AND CONCLUSION The early surgical correction seen over the past 15 years follows the approach suggested in the literature. The observed 30-day mortality rate is overlapping international results. Patients with Down syndrome subjected to corrective surgery of congenital heart disease have an excellent long-term functional capacity.

Cogan's Syndrome: ARetrospective Study of 22 Years

Introduction: Cogan’s syndrome (CS) is a rare clinical entity, of presumptive autoimmune etiology, typically characterized by a non-syphilitic interstitial keratitis (IK) associated with a Meniere-like vestibuloauditory dysfunction. Objective: Since only few cases have been published to current date and considering the variable presentation, clinical course and absence of specific diagnostic tests, we aim to potentially bring further insight for diagnosis and management. Materials and Methods: We conducted a retrospective study of all cases of CS followed at the Department of Otorhinolaryngology, Voice and Communication Disorders in Santa Maria Hospital, Lisbon, from 1992 to 2013. Patient’s demographics, otolaryngologic, ophthalmologic and systemic manifestations, presenting symptoms, audiovestibular and laboratory testing, imaging assessment, performed treatment, disease course and hearing outcomes were analyzed. Results: We review a group of six patients, two with typical and four with atypical CS. Five patients evolved to profound hearing loss, bilateral in two cases. No patient had permanent visual deficit. The Erythrocyte Sedimentation Rate (ESR) increase was the most consistent laboratory finding. Only one patient had positive anti- Heat Shock Protein (HSP) 70 antibodies. All patients were treated with corticosteroids. Methotrexate was associated in three, with some hearing loss stabilization. Three patients underwent cochlear implantation. Discussion and Conclusions: In our series, morbidity was mainly related to the vestibuloauditory dysfunction. In implanted patients, there was a significant improvement of hearing function. We highlight the need of a multidisciplinary approach to this pathology for better therapeutic outcomes and quality of life.

Pediatric Periorbital Infections: 5-Year Retrospective Study

Objective: Periorbital infections in the pediatric population are a common situation in hospital emergency care that can lead to visual loss, intracranial infection, or even death. We evaluated presentations and outcomes of pediatric periorbital cellulitis in order to understand different etiologies and stratifying risk populations that need different diagnostic and treatment approaches. Method: We retrospectively reviewed the pediatric patients admitted at our institution with the diagnosis of periorbital cellulitis over a period of 5 years. They were classified in subgroups according to Chandler and cross-referenced in demographics, clinical features, co-morbidities, days of in-hospital staying, CT findings, and treatment modalities. Results: We identified 112 children with periorbital cellulitis, 63 pre-septal and 49 post-septal. There were statistically significant differences between the two groups in regard to age (P < .001) and history of trauma or skin infection (P < .001). Proptosis (P < .001), diplopia (P < .01) and ophthalmoplegia (P < .001) were more frequent in post-septal infections and surgical intervention was exclusive of this group. Subperiosteal abscess patients were significantly older (P < .05), and all of them had diagnosis of acute sinusitis (P < .05). Proptosis (P < .05), ophtalmoplegia (P < .05) and diplopia (P < .05) were also differentiating features of subperiosteal abscess. Conclusion: Pre-septal infections are more common in younger children. Older children with subperiosteal abscesses need surgical intervention more often. Proptosis, diplopia, and opfthamoplegia are significant identifying features of post-septal infections, particularly in surgical patients. Trauma or skin infections are relevant findings of pre-septal infections. Post-septal infections are mostly a complication of acute sinusitis.