Browsing by Author "Furtado, F"
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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.
- Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome after Early Thalamic LesionsPublication . Leal, A; Calado, E; Vieira, JP; Mendonça, C; Ferreira, JC; Ferreira, H; Carvalho, D; Furtado, F; Gomes, R; Monteiro, JPOBJECTIVE: Early neonatal thalamic lesions account for about 14% of continuous spike-wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease. METHODS: We describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density electroencephalograms (EEGs) were performed, as well as detailed imaging and clinical evaluation. Visual evoked potentials were used to probe cortical excitability. RESULTS: Thalamic volume loss ranged from 19% to 94%, predominantly on medial and dorsal nuclei and sparing the ventral thalamus. Lesions produced white matter loss and ventricle enlargement on the same hemisphere, which in four patients was associated with selective loss of thalamic-cortical fibers. Cortical thickness quantification failed to reveal hemispheric asymmetries. Impact on EEG rhythms was mild, with a volume-loss-related decrease in alpha power and preservation of sleep spindles. The sleep continuous spiking was lateralized to the hemisphere with the lesion. Visual cortex stimulation in five patients with posterior cortex spiking revealed an abnormal frequency-dependent excitability at 10-20Hz on the side of the lesion. SIGNIFICANCE: Unilateral selective thalamic-cortical disconnection is a common feature in our patients and is associated with both a focal pattern of CSWS and a pathological type of frequency-dependent excitability (peak: 10-20Hz). We propose that this excitability represents an abnormal synaptic plasticity previously described as the augmenting response. This synaptic plasticity has been described as absent in the corticocortical interactions in healthy experimental animals, emerging after ablation of the thalamus and producing a frequency-dependent potentiation with a peak at 10-20Hz. Because this response is potentiated by sleep states of reduced brainstem activation and by appropriate stimulating rhythms, such as sleep spindles, the simultaneous occurrence of these two factors in nonrapid-eye-movement sleep is proposed as an explanation for CSWS in our patients.
- Cutaneous Hyperpigmentation and Cobalamin DeficiencyPublication . Machado, R; Furtado, F; Kjöllerström, P; Cunha, F
- Doenças Neuromusculares na Idade Pediátrica em Portugal - Estudo PreliminarPublication . Santos, MA; Fineza, I; Moreno, T; Cabral, P; Ferreira, JC; Lopes Silva, R; Vieira, JP; Moreira, A; Dias, AI; Calado, E; Monteiro, JP; Fonseca, MJ; Moço, C; Furtado, F; Campos, MM; Gonçallves, O; Gomes, R; Barbosa, C; Figueiroa, S; Temudo, T; Fagundes, F
- Fasceíte Necrosante Pós VaricelaPublication . Gonçalves, E; Furtado, F; Estrada, J; Vale, MC; Pinto, M; Santos, M; Moura, G; Vasconcelos, CA fasceíte necrosante é uma infecção pouco frequente, caracterizada por um envolvimento rapidamente progressivo das fascias e tecido celular subcutâneo. Os AA apresentam três casos clínicos de fasceíte necrosante que têm como características comuns: antecedentes próximos de varicela, sinais inflamatórios repidamente progressivos com marcado álgico, compromisso sistémico sugestuvo de síndrome de choque tóxico e isolamento de Streptococcus beta - hemolítico do grupo A (dois dos três casos): Um precoce diagnóstico diferencial com celulite, antibioterapia de largo espectro, suporte hemodinâmico intensivo e, sobretudo, rápido e extenso desbridamento cirúrgico, são determinantes fundamentais no prognóstico desta patologia, com elevada mortalidade.
- Fotossensibilidade - Casuística do Laboratório de Electroencefalografia do H.D.Estefania (1/03/2000 - 31/05/2004)Publication . Furtado, F; Vilares, E; Beato, A; Leal, A; Dias, AI
- Impacto Alimentar Esofágico, um Dilema DiagnósticoPublication . Rúbio, C; Furtado, F; Cunha, F; Queirós, G; Oliveira, L; Cabral, JO impacto alimentar esofágico é uma situação que na maioria dos casos é secundária a patologia esofágica congénita ou adquirida, podendo constituir a primeira manifestação da doença. Descreve-se um rapaz, 11 anos, saudável, com sialorreia e dor retrosternal que surgiram subitamente durante o jantar. Foi submetido a endoscopia digestiva alta, que revelou um fragmento de carne impactado no terço distal do esófago (que foi extraído) e estrias longitudinais na mucosa. A análise histológica das biópsias esofágicas foi compatível com eosinofilia esofágica. Iniciou terapêutica com inibidor da bomba de protões com melhoria clínica e histológica. O diagnóstico diferencial das principais causas de impacto alimentar associadas a eosinofilia esofágica, nomeadamente esofagite eosinofílica, doença do refluxo gastroesofágico e eosinofilia esofágica respondedora a inibidor da bomba de protões, constitui um desafio clínico.
- JIA-Like in a Boy with Ataxia-TelangiectasiaPublication . Furtado, F; Cordeiro, AI; Farela Neves, J; Conde, M
- LYRM7 Mutations Cause a Multifocal Cavitating Leukoencephalopathy with Distinct MRI AppearancePublication . Dallabona, C; Abbink, TEM; Carrozzo, R; Torraco, A; Legati, A; van Berkel, CGM; Niceta, M; Langella, T; Verrigni, D; Rizza, T; Diodato, D; Piemonte, F; Lamantea, E; Fang, M; Zhang, J; Martinelli, D; Bevivino, E; Dionisi-Vici, C; Vanderver, A; Philip, SG; Kurian, MA; Verma, IC; Bijarnia-Mahay, S; Jacinto, S; Furtado, F; Accorsi, P; Ardissone, A; Moroni, I; Ferrero, I; Tartaglia, M; Goffrini, P; Ghezzi, D; van der Knaap, MS; Bertini, EThis study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemically unclassified leukoencephalopathy. 'Targeted resequencing' of a custom panel including genes coding for mitochondrial proteins was performed in patients with complex III deficiency without a molecular genetic diagnosis. Based on brain magnetic resonance imaging findings in these patients, we selected additional patients from a database of unclassified leukoencephalopathies who were scanned for mutations in LYRM7 by Sanger sequencing. Targeted sequencing revealed homozygous mutations in LYRM7, encoding mitochondrial LYR motif-containing protein 7, in four patients from three unrelated families who had a leukoencephalopathy and complex III deficiency. Two subjects harboured previously unreported variants predicted to be damaging, while two siblings carried an already reported pathogenic homozygous missense change. Sanger sequencing performed in the second cohort of patients revealed LYRM7 mutations in three additional patients, who were selected on the basis of the magnetic resonance imaging pattern. All patients had a consistent magnetic resonance imaging pattern of progressive signal abnormalities with multifocal small cavitations in the periventricular and deep cerebral white matter. Early motor development was delayed in half of the patients. All patients but one presented with subacute neurological deterioration in infancy or childhood, preceded by a febrile infection, and most patients had repeated episodes of subacute encephalopathy with motor regression, irritability and stupor or coma resulting in major handicap or death. LYRM7 protein was strongly reduced in available samples from patients; decreased complex III holocomplex was observed in fibroblasts from a patient carrying a splice site variant; functional studies in yeast confirmed the pathogenicity of two novel mutations. Mutations in LYRM7 were previously found in a single patient with a severe form of infantile onset encephalopathy. We provide new molecular, clinical, and neuroimaging data allowing us to characterize more accurately the molecular spectrum of LYRM7 mutations highlighting that a distinct and recognizable magnetic resonance imaging pattern is related to mutations in this gene. Inter- and intrafamilial variability exists and we observed one patient who was asymptomatic by the age of 6 years.
- Multidrug-Resistant Klebsiella Pneumoniae Meningitis Successfully Treated with Intrathecal ColistinPublication . Furtado, F; Figueiredo, I; Iraneta, A; Matos, M; Gouveia, C; Varandas, LBackground: Multidrug-resistant (MDR) gram negative bacteria meningitis has become a clinical entity with increasing importance in recent years. Intrathecal colistin (ITH) has been used in the treatment of this cases. Aims: To report one case of MDR Klebsiella pneumoniae meningitis and ventriculitis successfully treated with ITH colistin. Case Report: Nine months old boy, born at 28 weeks of gestational age, diagnosed with neonatal meningitis, complicated with tetraventricular hydrocephalus requiring ventriculo-peritoneal shunt (VPS) placement and multiple shunt revisions. Admitted for worsening hydrocephalus. Cerebrospinal fluid (CSF) cultures were positive for extended-spectrum β-lactamase (ESBL) Klebsiella pneumoniae, only sensitive to meropenem and amikacin. Intravenous meropenen was started but CSF cultures remained positive and shunt device could not be removed. Although susceptibility to colistin was not available, on day 24 intrathecal colistin(4mg/day) was started through an external shunt. CSF white blood cell count improved and cultures became negative. Colistin was stopped after 19 days because of CSF pleocitosis and meropenen maintained for a total of 2 months with clinical improvement. Conclusion: In Klebsiella pneumoniae meningitis with ventriculitis, ITH colistin can be considered a safe, effective, and practicable alternative treatment when parental administration fails.