Browsing by Author "Sousa, I"
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- Evaluation of Apoptotic Molecular Markers in Myelodysplastic Syndrome PatientsPublication . Cortesão, E; Gonçalves, AC; Sousa, I; Moucho, C; Rito, L; Espadana, AI; Magalhães, E; Pereira, AM; Teixeira, A; Nascimento-Costa, JM; Sarmento, AB
- Linfoma difuso de grandes células em doente com lúpus eritematoso sistémicoPublication . Duarte, C; Couto, M; Inês, L; Silva, J; Sousa, I; Malcata, ABThe authors present the case of a 44-year-old female patient with Systemic Lupus Erythematosus diagnosed 4 years earlier. She presented with constitutional symptoms and back pain and one month later a diagnosis of Non Hodgkin Lymphoma was established (subtype Diffuse Large B Cells Lymphoma). The risk of malignancy associated to SLE is discussed.
- 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 E Sá, J; Reis, E; Santos, P; Oliveira, M; Sousa, S; Fradinho, M; Malheiro, F; Negrão, L; Feijó, S; Oliveira, SADespite 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.
- Rare cause of fever in a patient with ulcerative colitisPublication . Duque, G; Ferreira, R; Figueiredo, P; Sousa, I; Ferreira, M; Fernandes, A; Amaro, P; Freire, P; Portela, F; Romãozinho, JM; Sofia, C
- Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disordersPublication . Correia, CT; Conceição, IC; Oliveira, B; Coelho, J; Sousa, I; Sequeira, AF; Almeida, J; Café, C; Duque, F; Mouga, S; Roberts, W; Gao, K; Lowe, JK; Thiruvahindrapuram, B; Walker, S; Marshall, CR; Pinto, D; Geschwind, JI; Scherer, SW; Oliveira, G; Vicente, AMBACKGROUND: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. METHODS: From the AGP CNV genomic screen in 2,147 ASD individuals, we selected for characterization an ANXA1 gene duplication that was absent in 4,964 population-based controls. We further screened the duplication in a follow-up sample including 1,496 patients and 410 controls, and evaluated clinical correlations and family segregation. Sequencing of exonic/downstream ANXA1 regions was performed in 490 ASD patients for identification of additional variants. RESULTS: The ANXA1 duplication, overlapping the last four exons and 3'UTR region, had an overall prevalence of 11/3,643 (0.30%) in unrelated ASD patients but was not identified in 5,374 controls. Duplication carriers presented no distinctive clinical phenotype. Family analysis showed neuropsychiatric deficits and ASD traits in multiple relatives carrying the duplication, suggestive of a complex genetic inheritance. Sequencing of exonic regions and the 3'UTR identified 11 novel changes, but no obvious variants with clinical significance. CONCLUSIONS: We provide multilevel evidence for a role of ANXA1 in ASD etiology. Given its important role as mediator of glucocorticoid function in a wide variety of brain processes, including neuroprotection, apoptosis, and control of the neuroendocrine system, the results add ANXA1 to the growing list of rare candidate genetic etiological factors for ASD.
- Severe acute liver failure as the initial manifestation of haematological malignancy.Publication . Souto, P; Romãozinho, JM; Figueiredo, P; Sousa, I; Camacho, E; Donato, A; Freitas, DAcute liver failure is rarely secondary to lymphoma or leukaemia and it is extremely uncommon as the initial presentation of malignancy. We report a case of a young adult patient with severe acute liver failure referred for liver transplant, in which a Burkitt acute lymphoblastic leukaemia was diagnosed by bone marrow examination. A complete recovery and long remission were obtained with chemotherapy.