ABC2-Artigos (em revistas ou actas indexadas)
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- Minimally invasive surgery for inflammatory Bowel Disease: a systematic review and meta-analysis of robotic versus laparoscopic surgical techniquesPublication . Cunha, Miguel F.; Roseira, JoanaWe read with great interest the article ‘Minimally invasive surgery for inflammatory bowel disease: a systematic review and meta-analysis of robotic versus laparoscopic surgical techniques’, recently published in the Journal of Crohn’s and Colitis. 1 Zaman and colleagues performed the first comprehensive systematic review and meta-analysis to examine the outcomes of robotic versus conventional laparoscopic colorectal resections in patients with inflammatory bowel disease [IBD], focusing on the comparative effectiveness, safety pro files, and surgical performance metrics of these two minimally invasive approaches.
- Chromenone derivatives as CRM1 inhibitors for targeting glioblastomaPublication . Princiotto, Salvatore; Jiménez, Lucía; Domínguez, Lucía; Sequeira, João G. N.; Mourato Paulo, Cristiana Isabel; Orea-Soufi, Alba; da Silva Santos, Bruno Filipe; Dallavalle, Sabrina; Machuqueiro, Miguel; ferreira, Bibiana; Link, WolfgangGlioblastoma (GBM) is one of the most aggressive and deadly cancers. Due to the complexity and redundancy within signaling networks in GBM, targeted inhibitors of specific pathways have shown only limited success. The nuclear export receptor chromosome region maintenance 1 (CRM1) has recently emerged as a promising therapeutic target, as its inhibition can simultaneously disrupt multiple key oncogenic drivers. Herein, whether chromenone derivatives, known for detecting thiol-containing molecules, can function as CRM1 inhibitors is explored. Several chromenonebased derivatives are synthesized and it is demonstrated that they inhibit CRM1-driven nuclear export in a structure- and dose-dependent manner. A preliminary structure–activity relationship is established, providing a rationale for selective CRM1 binding based on molecular docking studies. Additionally, it is showed that the active chromenone derivatives effectively inhibit the nuclear export of endogenous nuclear export signal-containing substrates in GBM cells. Several of these compounds exhibit selective cytotoxicity againstGBM cell lines, highlighting their potential as targeted therapies for GBM.
- Fibrosis-related transcriptome unveils a distinctive remodelling matrix pattern in penetrating ileal Crohn’s diseasePublication . Sousa, Helena Tavares; Ferreira, Marta; Gullo, Irene; Rocha, Ana Mafalda; Pedro, Ana; Leitão, Dina; Oliveira, Carla; Carneiro, Fátima; Magro, FernandoBackground and Aims: Stricturing [B2] and penetrating [B3] ileal Crohn’s disease have been reported to present similar levels of histopathological transmural fibrosis. This study aimed to compare the fibrosis-related transcriptomic profiles of penetrating and stricturing ileal Crohn’s disease. Methods: Using Nanostring technology and comparative bioinformatics, we analysed the expression of 787 fibrosis-related genes in 36 ileal surgical specimens, 12 B2 and 24 B3, the latter including 12 cases with associated stricture[s] [B3s] and 12 without [B3o]. Quality control of extracted RNA was performed according to Nanostring parameters and principal component analysis for the distribution analysis. For the selection of the differentially expressed genes, a p-adjusted Results: We included 34 patients with B2 and B3 phenotypes, balanced for age at diagnosis, age at surgery, gender, Crohn’s disease localisa tion, perianal disease, and therapy. Inflammation and fibrosis histopathological scoring were similar in all cases. B2 and B3 groups showed a very good clustering regarding 30 significantly differentially expressed genes, all being remarkably upregulated in B3. More than half of these genes were involved in Crohn’s disease fibrogenesis, and eight differentially expressed genes were so in other organs. The most significantly active biological processes and pathways in penetrating disease were response to TGFβ and matrix organisation and degradation, as validated by immunohistochemistry. Conclusions: Despite the histopathological similarities in fibrosis between stricturing and penetrating ileal Crohn’s disease, their fibrosis-related transcriptomic profiles are distinct. Penetrating disease exhibits a distinctive transcriptomic landscape related to enhanced matrix remodelling.
- Serviços de alimentação no Ensino Superior: Saúde e sustentabilidadePublication . Braz, Nídia Maria Dias Azinheira Rebelo; Soares, Aldina; Farinha, Carla; Sarreira, Pedro; Melo, Nuno; Andrade, Graça; Lima, João; Lopes, Cristiana; Avelar, David; Neto, Belmira; Oliveira, Heitor; Alves, ElsaA sustentabilidade alimentar assumiu uma relevância central nos desafios globais atuais. As Instituições de Ensino Superior (IES) desempenham um papel estratégico neste contexto, através dos seus serviços de alimentação. Este artigo examinou as práticas de sustentabilidade alimentar nas IES portuguesas entre 2020 e 2024, através de um estudo em três fases: um inquérito inicial em 2020/21, entrevistas realizadas entre 2021 e 2023, e um questionário aplicado em 2024. Os resultados revelaram avanços significativos na implementação de práticas sustentáveis, destacando-se a oferta universal de opções vegetarianas/veganas e iniciativas para redução do desperdício alimentar. Contudo, persistiram desafios como a dificuldade de integração dos diferentes intervenientes do sistema alimentar e barreiras nos processos de compras públicas. As principais iniciativas implementadas focaram-se na promoção da alimentação saudável, da redução de resíduos plásticos e do desperdício alimentar. O estudo evidenciou também a importância da monitorização regular dos indicadores de gestão e da formação das equipas. Este trabalho contribuiu para a compreensão das barreiras e estratégias facilitadoras na transição para sistemas alimentares mais sustentáveis no Ensino Superior português.
- Description of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care SituationPublication . Kokaly, Nadia; Guerreiro, Helena; Bredow, Janna; Dreha-Kulaczewski, Steffi; Ohlenbusch, Andreas; Köhler, Wolfgang; Reinhardt, Tabea; Schön, Gerhard; Volk, Alexander E.; Sigel, Helen; Bley, AnnetteBackground: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed the most frequent symptoms of nine AxD cases, classified them according to published classifications, and described the need of care and support. Results: The description of the courses of disease of nine cases with AxD reflects the broad spectrum of different phenotypes of AxD, with often occurring apnoea. Data about care and support for AxD patients indicate a high and heterogeneous need of support. Treatment with steroids reduced symptoms in two patients. Some patients showed lasting improvement during their course of disease. Conclusions: The course of AxD is very heterogeneous. Thus, we extracted relevant key features to describe the severity of the disease, namely feeding problems, epilepsy, age-appropriate motor function, failure to thrive, age-appropriate language and apnoea. We recommend early evaluation for clinical care and support. For some AxD patients, treatment with steroids may alleviate symptoms. Further development of efficient treatments is necessary
- Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart diseasePublication . Tabrizi, Fateme; Khatami, Mehri; Heidari, Mohammad Mehdi; Bragança, José; Tatari, Hasan; Namnabat, Hasan; Hadadzadeh, Mehdi; Shirazi, Mohammad Ali NavabiBackground Congenital heart disease (CHD) is the most prevalent developmental defect and principal cause of infant mortality and affects cardiac and large blood vessel structures in approximately 1% of live births worldwide. To date, numerous studies have related critical genetic dysfunctions to the pathogenesis of CHDs. However, the genetic basis underlying CHD remains largely unknown. In the present study, we investigated the association of nucleotide variations in coding and noncoding regions of the HAND1 gene with the risk of CHD. The HAND1 gene, encoding a helix-loop-helix transcription factor, is particularly relevant for mechanisms underlying CHD since it plays a significant role in heart development. Methods and results The genomic DNA of 150 unrelated pediatric patients with CHD was screened by PCR-SSCP and direct sequencing. Four novel and heterozygous missense mutations were identified in the first exon, with three causing amino acid substitutions (p.Val149Met, p.Tyr142His, and p.Leu146Met). In-silico analysis also indicated their deleterious impact on protein structure and function. In addition, we identified five novel nucleotide variants in the 3′UTR region (c.*461, c.*342, c.*529, c.*448, c.*593), potentially altering the target sites of miRNAs. These changes include the loss of certain target sites and the acquisition of new ones. Conclusions These findings confirm the phenotypic association between CHDs and HAND1 mutations and can pave the way for developing new preventive and therapeutic strategies.
- Basal progenitors as drivers of neocortical expansionPublication . Barao, Soraia; Müller, UlrichThe diversification and expansion of distinct progenitor cell subtypes during embryogenesis are essential to form the sophisticated brain structures present in vertebrates. In particular, the emergence of highly proliferative basal progenitors contributed to the evolutionary enlargement of the mammalian neocortex. Basal progenitors are at the center of indirect neurogenesis and can be divided into two main subtypes: the classical TBR2-positive intermediate progenitor cells and the outer radial glial cells, which are especially abundant in gyrencephalic species. While the function of some transcriptomic regulators is conserved across the mammalian clade, recent studies have identified human-specific genes and enhancers that uniquely affect progenitor biology, possibly driving the increased neocortical complexity and disease-susceptibility of the human brain. Here, we review the evolution of basal progenitors, highlighting species-specific traits, molecular drivers of proliferation, and how imbalances in neurogenesis contribute to human brain disorders.
- Maternal thyroid hormone is required to develop the hindbrain vasculature in zebrafishPublication . Trindade, Marlene; Silva, Nádia; Rodrigues, Joana; Kawakami, Koichi; Campinho, Marco AntónioThyroid hormone (TH) signaling is important and necessary for proper neurodevelopment. Inadequate levels of maternally derived THs (MTH) supply affect target gene expression profiles, which are fundamental for the brain’s normal growth, maturation, and function. The monocarboxylate transporter 8 (SLC16A2, MCT8) is the main TH transporter present in the brain during embryonic development, and mutations in this transporter lead to a rare and debilitating human condition known as the Allan-Herndon-Dudley Syndrome (AHDS). This mutation affects the capacity for intracellular transport of the hormone, leading to impaired brain development that constitutes the main pathophysiological basis of AHDS. Like humans, zebrafish embryos express slc16a2 that transports exclusively T3 at zebrafish physiological temperature. Studies in zebrafish Mct8 knockdown (KD) models found impaired hindbrain vasculature development. Here, using zebrafish Mct8 KD and knockout (KO) models, we shed light on the maternal T3 (MT3)-dependent developmental mechanism behind hindbrain vasculature development. We first demonstrate that MT3-regulates hindbrain vegfaa expression. We provide evidence that hindbrain neurons are not the source of vegfaa, instead, restricted pax6a+ neuroprogenitor cells (NPCs) instruct central arteries (CtAs) ingression into the hindbrain. Therefore, MT3 acts as an integrator, providing the regulatory cues necessary for the timely ingression of the CtAs into the hindbrain.
- Using ECG-derived respiration for explaining BOLD-fMRI fluctuations during rest and respiratory modulationsPublication . Esteves, Inês; Rodrigues Fouto, Ana Lúcia; Ruiz-Tagle, Amparo; Caetano, Gina; Figueiredo, PatríciaRecording physiological signals during fMRI is valuable for multiple purposes but often requires additional setup, increasing complexity and participant discomfort. This is particularly challenging in simultaneous EEG-fMRI studies, which typically already include electrocardiogram (ECG) recordings. Here, we aim to leverage the known modulation of ECG by respiration to obtain an ECG-derived respiration (EDR) signal without extra equipment. We acquired EEG-fMRI data from 15 healthy subjects during resting state and two respiratory challenges (slow-paced breathing and breath-holding), with simultaneous ECG and respiratory recordings. Multiple methods were used to extract EDR signals, and the results were evaluated by comparing them with recorded respiration and assessing the quality of physiological regressors for denoising and cerebrovascular reactivity estimation. Amplitude-based EDR methods showed lower correlations with respiration, likely due to ECG distortion in the MRI. Nevertheless, coherence analysis showed that EDR preserved the relevant spectral content. EDR-based regressors were similar to those obtained from measured respiration. Notably, a method based on heart rate variability performed best overall, yielding physiological noise correction and reactivity estimates comparable to those using recorded respiration. Our results demonstrate that meaningful respiratory information can be extracted from ECG within the MRI environment, benefiting EEG-fMRI studies when respiration cannot be reliably recorded.
- Syngap1 and the development of murine neocortical progenitor cellsPublication . Barao, Soraia; Xu, Yijun; Hong, Ingie; Müller, Ulrich; Huganir, Richard L.SYNGAP1 regulates synaptic plasticity through interactions with scaffold proteins and modulation of Ras and Rap GTPase signaling. Human SYNGAP1 mutations are linked to intellectual disability, epilepsy, and autism. In mice, Syngap1 haploinsufficiency causes impaired LTP, premature maturation of dendritic spines, learning disabilities, and seizures, reflecting the human phenotypes of SYNGAP1 syndrome. Recently, SYNGAP1 was shown to influence cortical neurogenesis and progenitor proliferation in human organoids. Here, we show that Syngap1 absence or haploinsufficiency does not alter neocortical progenitors and their cellular output in mice. Despite careful analysis of cortical progenitor properties, we fail to replicate the main findings from human organoids. This discrepancy suggests species-specific or methodological differences and raises questions about the broader relevance of SYNGAP1’s role in neurogenesis. The absence of cortical progenitor deficits in haploinsufficient mice, which exhibit cognitive deficits and seizures, indicates these arise from SYNGAP1’s regulation of synapse function rather than its role on neurogenesis.