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Doenças lisossomais de sobrecarga: da epidemiologia genética ao desenvolvimento...

Moreira, Luciana; Coutinho, Maria Francisca; Moutinho, Maria Eduarda; Almeida, Matilde Barbosa; Gonçalves, Francisca; Carvalho, Sofia; Amaral, Olga


IDN Jovem : 8º Seminário "IDN Jovem"

Ilin, Aleksandr; Pereira, Marta Lima; Matias, Leandro; Areias, Helena; Gonçalves, Mariana; Cardoso, Miguel; Silva, João; Suamo, Vasco; Falcone, Pedro

Date: 2024   |   Origin: Instituto da Defesa Nacional

Relation between infrared thermometry and thermal imaging for assessment of rod...

Oliveira, Paula A.; Gonçalves, Lio; Gonçalves, Mariana; Venâncio, Carlos; Azevedo, Tiago; Ribeiro, Carla; Reis, Rita; Faustino-Rocha, Ana I

Animals have been used for biomedical research since ancient times. Humane endpoints have been increasingly implemented during experimental protocols to prevent or alleviate animals’ suffering. Body temperature is an indicator of stress or anxiety. Infrared thermometer (IRT) and infrared thermal imaging camera (TIC) are commercially available for temperature measurement. This study aimed to determine mice and r...


Intimate partner homicide: Comparison between homicide and homicide-suicide in ...

Gonçalves, Mariana; Gomes, Eduardo; Matos, Marlene

Intimate partner homicide (IPH) is a tragic event. Studies involving the comparison between IPH and intimate partner homicide-suicide (IPH-S) are scarce, with few studies in Portugal about this issue. The current study aims to compare IPH and IPH-S perpetrators, the victim–perpetrator relationships dynamics, and homicide circumstances. The data was collected through the analysis of 78 judicial processes of IPH ...



Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare di...

Gonçalves, Mariana; Matos, Liliana; Santos, Juliana I.; Coutinho, Maria Francisca; Prata, Maria João; Pires, Maria João; Oliveira, Paula; Omidi, Maryam

Mucolipidosis II (MLII) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose- 6-Phosphate marker addition to lysosomal enzymes. Of all MLII mutations, the c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a personalized therapy. Here, we explored an innovative therapeutic strategy based on the ...


Recorrence Quantification Analysis during the finger tapping test in children o...

Branco, Marco A. C.; Catela, David; Brígida, Nancy; Rafael, Diana; Oliveira, Joana; Olhos, Beatriz; Gonçalves, Mariana; Mercê, Cristiana

The Recurrence Quantification Analysis (RQA), applied to fine motor skills in children, may be used to observe the behavior of the state of the child, which allows to study and understand the process that he/she is going through. This study aims to analyze the evolution of the fine motor skills between 6 and 9 years old. An inertial sensor was used to collect 3D data during FTT from 60 primary school children a...


Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...

Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, Sandra

Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...


Measuring adherence to inhaled control medication in patients with asthma: Comp...

Cachim, Afonso; Pereira, Ana Margarida; Almeida, Rute; Amaral, Rita; Correia, Magna Alves; Marques, Pedro Vieira; Loureiro, Cláudia Chaves

Background Previous studies have demonstrated the feasibility of using an asthma app to support medication management and adherence but failed to compare with other measures currently used in clinical practice. However, in a clinical setting, any additional adherence measurement must be evaluated in the context of both the patient and physician perspectives so that it can also help improve the process of shared...

Date: 2023   |   Origin: uBibliorum

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...

Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, Sandra

Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...


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