Margarida D. Amaral
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View article: DIAGNÓSTICOS DE ENFERMAGEM MAIS PREVALENTES EM PACIENTES PEDIÁTRICOS SUBMETIDOS A TRANSPLANTE DE CÉLULAS-TRONCO HEMATOPOÉTICAS AUTÓLOGO NO ANO DE 2024 EM UM HOSPITAL UNIVERSITÁRIO NO SUL DO BRASIL
DIAGNÓSTICOS DE ENFERMAGEM MAIS PREVALENTES EM PACIENTES PEDIÁTRICOS SUBMETIDOS A TRANSPLANTE DE CÉLULAS-TRONCO HEMATOPOÉTICAS AUTÓLOGO NO ANO DE 2024 EM UM HOSPITAL UNIVERSITÁRIO NO SUL DO BRASIL Open
View article: UTILIZAÇÃO DE NUTRIÇÃO PARENTERAL TOTAL EM PACIENTES PEDIÁTRICOS SUBMETIDOS A TRANSPLANTE DE CÉLULAS-TRONCO HEMATOPOÉTICAS AUTÓLOGO
UTILIZAÇÃO DE NUTRIÇÃO PARENTERAL TOTAL EM PACIENTES PEDIÁTRICOS SUBMETIDOS A TRANSPLANTE DE CÉLULAS-TRONCO HEMATOPOÉTICAS AUTÓLOGO Open
View article: DIAGNÓSTICO DE ENFERMAGEM ‘NUTRIÇÃO DESEQUILIBRADA: MENOR QUE AS NECESSIDADES CORPORAIS’ E A UTILIZAÇÃO DE SONDA NASOENTERAL EM PACIENTES PEDIÁTRICOS SUBMETIDOS À TRANSPLANTE DE CÉLULAS-TRONCO HEMATOPOÉTICAS AUTÓLOGO
DIAGNÓSTICO DE ENFERMAGEM ‘NUTRIÇÃO DESEQUILIBRADA: MENOR QUE AS NECESSIDADES CORPORAIS’ E A UTILIZAÇÃO DE SONDA NASOENTERAL EM PACIENTES PEDIÁTRICOS SUBMETIDOS À TRANSPLANTE DE CÉLULAS-TRONCO HEMATOPOÉTICAS AUTÓLOGO Open
View article: Severe Early-Onset Neonatal Listeriosis: An Unusual Diagnosis
Severe Early-Onset Neonatal Listeriosis: An Unusual Diagnosis Open
View article: Comparison of the Effect of CFTR Modulators elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via Serum Human Epididymis Protein 4 Concentration in p.Phe508del-CFTR Homozygous Cystic Fibrosis Patients
Comparison of the Effect of CFTR Modulators elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via Serum Human Epididymis Protein 4 Concentration in p.Phe508del-CFTR Homozygous Cystic Fibrosis Patients Open
Elevated human epididymis protein 4 (HE4) levels decreased in patients with CF (pwCF) in response to CFTR-specific drugs and negatively correlated with FEV1% predicted values (ppFEV1). Objectives: Although elexacaftor/tezacaftor/ivacaftor …
View article: CFTR ion transport deficiency primes the epithelium for partial epithelial-mesenchymal transition in cystic fibrosis
CFTR ion transport deficiency primes the epithelium for partial epithelial-mesenchymal transition in cystic fibrosis Open
Introduction Cystic fibrosis (CF) is a monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a Cl − /HCO 3 − ion channel located at the apical plasma membrane (PM) of ep…
View article: A SOLIDÃO E O SENTIMENTO DE ABANDONO EM IDOSO: REPERCUSSÕES PSICOSSOCIAIS E ESPIRITUAIS NA ATENÇÃO BÀSICA DE SAÚDE
A SOLIDÃO E O SENTIMENTO DE ABANDONO EM IDOSO: REPERCUSSÕES PSICOSSOCIAIS E ESPIRITUAIS NA ATENÇÃO BÀSICA DE SAÚDE Open
View article: Cystic fibrosis as a paradigmatic disease in bringing science to the bedside
Cystic fibrosis as a paradigmatic disease in bringing science to the bedside Open
Cystic fibrosis (CF) is a recessive disorder caused by mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), a chloride/bicarbonate channel that balances fluid homeostasis in epithelia. CFTR dysfunction…
View article: Acesso Aberto e Recursos Educacionais Abertos A Experiência de Redesign de um Repositório Educacional Aberto
Acesso Aberto e Recursos Educacionais Abertos A Experiência de Redesign de um Repositório Educacional Aberto Open
Access to information is one of the main topics covered ineducation, and the idea of introducing communityparticipation in the creation, development and propagationof knowledge has increased mainly with the movement indefense of open acces…
View article: Perturbing LSD1 and WNT rewires transcription to synergistically induce AML differentiation
Perturbing LSD1 and WNT rewires transcription to synergistically induce AML differentiation Open
Impaired differentiation is a hallmark of myeloid malignancies 1,2 . Therapies that enable cells to circumvent the differentiation block, such as all- trans retinoic acid (ATRA) and arsenic trioxide (ATO), are by and large curative in acut…
View article: CyFidb: A Molecular Atlas for Cystic Fibrosis
CyFidb: A Molecular Atlas for Cystic Fibrosis Open
CyFidb is an open-access resource (https://cyfidb.di.fc.ul.pt) designed to provide continuously updated, curated information on CFTR variants and their associated biological data.
View article: A metodologia do ensino de história do 6º ao 9º ano: algumas das principais tendências pedagógicas na educação
A metodologia do ensino de história do 6º ao 9º ano: algumas das principais tendências pedagógicas na educação Open
O trabalho aqui apresentado, “A Metodologia do Ensino de História do 6º ao 9º Ano”, se refere às tendências pedagógicas a partir de uma pesquisa documental, as formas de abordagem de conteúdos nas diferentes correntes e tendências a partir…
View article: Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators
Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators Open
Cystic fibrosis (CF) is a life-shortening disease affecting >160,000 individuals worldwide predominantly with respiratory symptoms. About 80% of individuals with CF have the p.Phe508del variant that causes the CF transmembrane conductance …
View article: Development of a Thermodynamic Model for Supersonic Separation of Exhaust Gases in Offshore Turbine Systems
Development of a Thermodynamic Model for Supersonic Separation of Exhaust Gases in Offshore Turbine Systems Open
View article: A Refined Model of the CFTR Membrane Transporter as a Tool to Revert Misbehavior
A Refined Model of the CFTR Membrane Transporter as a Tool to Revert Misbehavior Open
ABC proteins are large transmembrane efflux pumps that export substrates against the concentration gradient through ATP hydrolysis. Due to their efflux capabilities, they are crucial in drug metabolism. Point mutations in ABC proteins can …
View article: The role of CFTR in the eye, and the effect of early highly effective modulator treatment for cystic fibrosis on eye health
The role of CFTR in the eye, and the effect of early highly effective modulator treatment for cystic fibrosis on eye health Open
Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that plays a crucial role in various human organs, including the respiratory and digestive systems. Dysfunctional CFTR is the key variant of the lethal genetic disorde…
View article: Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis
Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis Open
The observed repeatability and reproducibility of the FIS assay within and across different labs is high and support the use of FIS as biomarker of CFTR function in the presence or absence of CFTR modulators.
View article: PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR
PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR Open
The deletion of a phenylalanine at position 508 (p.Phe508del) in the CFTR anion channel is the most prevalent variant in people with Cystic Fibrosis (CF). This variant impairs folding and stability of the CF transmembrane conductance regul…
View article: 249 Pharmacological rescue of CFTR premature termination codon mutations by novel small molecules
249 Pharmacological rescue of CFTR premature termination codon mutations by novel small molecules Open
View article: 248 Theranostics for people with cystic fibrosis and rare CFTR mutations
248 Theranostics for people with cystic fibrosis and rare CFTR mutations Open
View article: 173 Role of CFTR in airway epithelial regeneration and repair: Studies from novel human basal cell lines
173 Role of CFTR in airway epithelial regeneration and repair: Studies from novel human basal cell lines Open
View article: Educational level-dependent melanoma awareness in a high-risk population in Switzerland
Educational level-dependent melanoma awareness in a high-risk population in Switzerland Open
Introduction The worldwide incidence of melanoma has been increasing rapidly in recent decades with Switzerland having one of the highest rates in Europe. Ultraviolet (UV) radiation is one of the main risk factors for skin cancer. Our obje…
View article: Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination
Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination Open
Plasma HE4 level negatively correlates with lung function improvement assessed by ppFEV1 in pwCF undergoing LUM/IVA CFTRm treatment.
View article: Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators
Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators Open
Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that leads to CFTR dysfunction. Since some rare variants may res…
View article: Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells
Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells Open
Background The phenotypic heterogeneity observed in Cystic Fibrosis (CF) patients suggests the involvement of other genes, besides CFTR . Here, we combined transcriptome and proteome analysis to understand the global gene expression patter…
View article: What Can RNA-Based Therapy Do for Monogenic Diseases?
What Can RNA-Based Therapy Do for Monogenic Diseases? Open
The use of RNA-based approaches to treat monogenic diseases (i.e., hereditary disorders caused by mutations in single genes) has been developed on different fronts. One approach uses small antisense oligonucleotides (ASOs) to modulate RNA …
View article: Additive Potentiation of R334W-CFTR Function by Novel Small Molecules
Additive Potentiation of R334W-CFTR Function by Novel Small Molecules Open
The R334W (c.1000C>T, p.Arg334Trp) is a rare cystic fibrosis (CF)-causing mutation for which no causal therapy is currently approved. This mutation leads to a significant reduction of CF transmembrane conductance regulator (CFTR) channel c…
View article: Efficient Synthesis of 4-Acyl-1,2,3-Triazoles from Acetophenones and Aryl Azides: A Synthetic Shortcut for Novel p.Phe508del-CFTR Traffic Correctors
Efficient Synthesis of 4-Acyl-1,2,3-Triazoles from Acetophenones and Aryl Azides: A Synthetic Shortcut for Novel p.Phe508del-CFTR Traffic Correctors Open
View article: Identification of novel F508del-CFTR traffic correctors among triazole derivatives
Identification of novel F508del-CFTR traffic correctors among triazole derivatives Open
The most prevalent cystic fibrosis (CF)-causing mutation - F508del - impairs the folding of CFTR protein, resulting in its defective trafficking and premature degradation. Small molecules termed correctors may rescue F508del-CFTR and there…
View article: Development of novel therapeutics for all individuals with CF (the future goes on)
Development of novel therapeutics for all individuals with CF (the future goes on) Open
Despite the major advances and successes in finding and establishing new treatments that tackle the basic defect in Cystic Fibrosis (CF), there is still an unmet need to bring these potentially curative therapies to all individuals with CF…