Browsing by Issue Date, starting with "2014-10"
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- Acute Otitis Media a Reliable Warning Sign for Primary Immunodeficiencies?- A Critical AppraisalPublication . Furtado, F; Cordeiro, AI; Farela Neves, J; Neves, CAcute otitis media (AOM) is the most common infection in childhood, resulting from both anatomic and immunologic specificities of this age group. Recurrent AOM has been defined as one of the warning signs for primary immunodeficiencies (PID), In this study we evaluated the strength of recurrent AOM as clinical predictor of PID. Methods: Retrospective study (August 2010 - December 2013) which included all patients referred to PID appointment because of recurrent AOM (= 8 AOM episodes/year). Syndromic patients or those presenting with another warning sign for PID were excluded. Clinical, demographic and laboratory results were analized and statistical analysis was made using SPSS 20. Results: Seventy-five patients were included (median age 37,8 months; 62,7% male gender), corresponding to 15% of all first appointments. Other comorbidities were present in 20% of the patients and 17% had ORL surgery prior to PID referral. In most patients, the immunologic screening consisted on the evaluation of humoral function, but in selected cases other studies were performed (namely complement and lymphocyte immunophenotyping). A PID was identified in 12 children (16,0%) and the majority of these patients had other distinctive feature (personal or familiar antecedent of infection or auto-immunity, 66,7%, p<0,05). Nine children (12,0%) underwent prophylactic cotrimoxazole. The average length of follow-up was 11,2 months. Conclusion: Despite being a very frequent cause of immunologic screening, in this study recurrent AOM was not found to be a good predictor of underlying PID, unless the patients presents other significant personal or family history.
- Initial Use of Endothelial Progenitor Cells Capturing Stents in Paediatric Congenital Heart DiseasePublication . Cabanelas, N; Martins, JD; Pinto, MFINTRODUCTION: Stenosis, mediated by neointimal hyperplasia and thrombosis, is a major limiting factor in successful stent implantation. The introduction of a stent, coated in its endoluminal surface by antihuman CD34 antibodies with endothelial progenitor cell-capturing properties, opens the possibility of promoting a rapid and normal functioning coverage by endothelium and thus avoids both an excessive cell proliferation within stent and the need for long-term dual antiplatelet therapy. These stents, developed for adult coronary artery disease, have not yet been implanted in children or in those with congenital heart disease. OBJECTIVE AND METHODS: In this paper, we describe the implantation of Genous® stents in three children with cyanotic congenital heart disease and obstructed systemic-to-pulmonary shunts. We describe the use of this stent and address its potential feasibility in paediatric congenital heart disease. RESULTS: To maintain the patency of two modified Blalock-Taussig shunts and one ductus arteriosus, four Genous® stents were implanted in three infants with cyanotic heart disease. All procedures were immediately successful, with resolution of stenosis and improvement in transcutaneous oxygen saturation from 66% ± 3.6% to 92% ± 2.6%. In the follow-up, one stent had no occlusion; however, the remaining two had partial occlusion after 5 and 5.5 months, which were successfully managed with balloon dilatation preceding elective definitive surgical correction. CONCLUSION: In our preliminary experience, we demonstrated that Genous® stent implantation was feasible in infants with complex congenital heart disease. Additional studies with larger samples and longer follow-up are required to confirm the potential benefits of this technology in this clinical setting.
- Macular and Optic Disc Edema and Retinal Vascular Leakage in Familial Amyloid Polyneuropathy with a Transthyretin Val30Met Mutation: a Case ReportPublication . Dias-Santos, A; Ferreira, J; Cunha, JPIntroduction: Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy. Case presentation: A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneuropathy presented with rapidly progressing visual loss in his left eye. He had undergone liver transplantation at the age of 30 with neurologic stabilization. Fundoscopy and fluorescein angiogram revealed optic disc and macular edema as well as vessel wall staining with leakage in the posterior pole and mid-periphery, without vitreous opacities. A diagnostic work-up for infectious, autoimmune and neoplasic conditions was negative. Systemic immunosuppression was increased but without improvement. Sustained resolution of macular edema was observed after intravitreal injection of dexamethasone implant and laser panretinal photocoagulation. Conclusions: To the best of our knowledge, this is the first report of a rare ocular manifestation of familial amyloid polyneuropathy which represents a new therapeutic challenge. Intravitreal injection of sustained release dexamethasone implant and panretinal photocoagulation may be an effective eye-saving therapeutic approach.