Browsing by Author "Pinto, L"
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- Esclerose tuberosa - A propósito de um caso clínicoPublication . Vieira, C; Rodrigues, AR; Pinto, L; Rua, ACaso Clínico: Homem, 32 anos, orientado para consulta de Medicina Interna para estudo de “múltiplas lesões renais” detectadas em TC do tórax realizada para controlo de empiema. Antecedentes de défice cognitivo ligeiro e epilepsia diagnosticada aos 18 anos, medicado com valproato de sódio e seguido em consulta de Neurologia. No âmbito desta consulta realizou TC cerebral que revelou “nódulos subependimários e tuberomas corticais”. Do exame físico salientava-se a presença de angiofibromas faciais, fibromas periungueais e mácula hipomelanótica no tronco. TC abdominopélvica com “quistos e nódulos sólidos em ambos os rins”. A RMN abdominopélvica não esclareceu a natureza dos nó- dulos renais. Procedeu-se a biopsia de nódulo localizado no pólo inferior do rim esquerdo, guiada por ecografia, cuja histologia foi compatível com o diagnóstico de angiomiolipoma. A combinação de critérios major (angiofibromas faciais, fibromas periungueais, nódulos subependimários, tuberomas corticais, angiomiolipomas renais) e minor (quistos renais múltiplos), permitiu estabelecer o diagnóstico de esclerose tuberosa (ET).
- Generation of an integration-free induced pluripotent stem cell line (CSC-43) from a patient with sporadic Parkinson's diseasePublication . Marote, A; Pomeshchik, Y; Goldwurm, S; Collin, A; Lamas, NJ; Pinto, L; Salgado, AJ; Roybon, LAn induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype. This iPSC line can be used to study the mechanisms underlying the development of PD.
- A transcriptomic signature mediated by HOXA9 promotes human glioblastoma initiation, aggressiveness and resistance to temozolomidePublication . Pojo, M; Gonçalves, CS; Xavier-Magalhães, A; Oliveira, AI; Gonçalves, T; Correia, S; Rodrigues, AJ; Costa, S; Pinto, L; Pinto, AA; Lopes, JM; Reis, RM; Rocha, M; Sousa, N; Costa, BMGlioblastoma is the most malignant brain tumor, exhibiting remarkable resistance to treatment. Here we investigated the oncogenic potential of HOXA9 in gliomagenesis, the molecular and cellular mechanisms by which HOXA9 renders glioblastoma more aggressive, and how HOXA9 affects response to chemotherapy and survival. The prognostic value of HOXA9 in glioblastoma patients was validated in two large datasets from TCGA and Rembrandt, where high HOXA9 levels were associated with shorter survival. Transcriptomic analyses identified novel HOXA9-target genes with key roles in cancer-related processes, including cell proliferation, DNA repair, and stem cell maintenance. Functional studies with HOXA9-overexpressing and HOXA9-silenced glioblastoma cell models revealed that HOXA9 promotes cell viability, stemness and invasion, and inhibits apoptosis. Additionally, HOXA9 promoted the malignant transformation of human immortalized astrocytes in an orthotopic in vivo model, and caused tumor-associated death. HOXA9 also mediated resistance to temozolomide treatment in vitro and in vivo via upregulation of BCL2. Importantly, the pharmacological inhibition of BCL2 with the BH3 mimetic ABT-737 reverted temozolomide resistance in HOXA9-positive cells. These data establish HOXA9 as a driver of glioma initiation, aggressiveness and resistance to therapy. In the future, the combination of BH3 mimetics with temozolomide should be further explored as an alternative treatment for glioblastoma.