Browsing by Author "Sousa, S."
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- De uma Convulsão com Rabdomiólise ao Diagnóstico Familiar de Doença de McArdlePublication . Sousa, S.; Gabriel, J.P.; Pereira, L.; Lopes, A.; Quaresma, M.; Rocha, H.; Chorão, R.RESUMO As miopatias metabólicas são doenças provocadas por defeitos na utilização das reservas energéticas dos tecidos musculares. Apresentam-se por intolerância ao exercício, com fadiga ou mialgias e, por vezes, com mioglobinúria. A Doença de McArdle (doença de armazenamento do glicogénio tipo V) é uma doença deste grupo, com um modo de transmissão autossómico recessivo, causada por mutações no gene PYGM, localizado no cromosoma 11 (11q13), que resultam numa de ciência da fosforilase muscular. Apresentamos o caso clínico de um adolescente de quinze anos, em que foi feito o diagnóstico de Doença de McArdle após internamento por rabdomiólise maciça no contexto de crise convulsiva generalizada tónico-clónica. Estudos moleculares permitiram a identificação da mutação p.R50X em homozigotia, no probando, no pai e numa irmã.
- Hipotermia terapêutica na encefalopatia hipóxico-isquémicaPublication . Sousa, S.; Vilan, A.A encefalopatia hipóxico-isquémica é uma patologia prevalente e com uma morbi-mortalidade associada muito elevada, acarretando custos pessoais, sociais e financeiros consideráveis. Além do tratamento intensivo de suporte, há evidência crescente de que a hipotermia, iniciada poucas horas após o evento hipóxico-isquémico e mantida durante 72 horas, pode reduzir a perda neuronal e melhorar o prognóstico neurológico. O sucesso terapêutico depende do reconhecimento precoce dos recém-nascidos em risco, da sua estabilização apropriada, do controlo da temperatura corporal, permitindo o arrefecimento passivo, da comunicação atempada com os centros de tratamento e transporte adequado. O objectivo desta revisão é difundir o conhecimento actual sobre o uso da hipotermia terapêutica na encefalopatia hipóxico-isquémica junto da comunidade pediátrica, dado o potencial envolvimento de todos os pediatras no reconhecimento e referenciação atempada destes recém-nascidos. ABSTRACT Hypoxic-ischemic encephalopathy is a prevalent pathology with high morbid-mortality, and resulting in high personal, social and financial costs. Besides the intensive support care, there is now compelling clinical evidence that hypothermia initiated within a few hours after severe hypoxia-ischemia and maintained for 72 hours, can reduce neuronal loss and improve neurological outcome. Timely recognition of infants at risk, proper stabilization and control of body temperature, allowing passive cooling, communication with referral centers with resources to provide this therapy and proper care on transport will contribute to the benefits of this intervention. The aim of this review is to spread information about the use of therapeutic hypothermia in hypoxic-ischemic encephalopathy to the paediatric community, since pediatricians have an important role in recognition and rapid referral of these babies.
- Juvenile systemic sclerosis: review of 15 patientsPublication . Sousa, S.; Fernandes, S.; Estanqueiro, P.; Zilhão, C.; Resende, C.; Ramos, F.; Salgado, M.; Guedes, M.; Gomes, J.; Santos, M.
- Multicentric Genome-Wide Association Study for Primary Spontaneous PneumothoraxPublication . Sousa, I.; Abrantes, P.; Francisco, V.; Teixeira, G.; Monteiro, M.; Neves, J.; Norte, A.; Robalo-Cordeiro, C.; Moura-Sá, J.; Reis, E.; Santos, P.; Oliveira, M.; Sousa, S.; Fradinho, M.; Malheiro, F.; Negrão, L.; Feijó, S.; Oliveira, S.Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.
- The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature ReviewPublication . Lopes, F.; Torres, F.; Soares, G.; van Karnebeek, C.; Martins, C.; Antunes, D.; Silva, J.; Muttucomaroe, L.; Botelho, L.; Sousa, S.; Rendeiro, P.; Tavares, P.; Van Esch, H.; Rajcan-Separovic, E.; Maciel, P.Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.