Sara Ferreira

Além das barreiras: o turismo inclusivo por meio das nossas experiências

Marta Regina da Silva-Melo, José Aparecido da Costa, A Jimenez Jose, Lucas Helpis de Lima et autres

A obra Além das barreiras: o turismo inclusivo por meio das nossas experiências tem como objetivo dar visibilidade aos relatos de pessoas com deficiência e suas experiências em atividades turísticas. A iniciativa integra uma ação extensionista do curso de Turismo da Universidade …

Avaliação do grau de funcionalidade em pacientes com hanseníase: estudo transversal

Sara Ferreira, Karla Katiana Silva Martins, Adrielle Zagmignan, Sarah Tarcísia Rebelo Ferreira de Carvalho

A Hanseníase causa disfunções motoras e diminuição da sensibilidade térmica, dolorosa e tátil que podem resultar em limitações no desenvolvimento de ativi- dades de vida diária. Diante deste cenário, objetivou-se analisar a limitação de atividade de vida diária, consciência de risco e …

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When Pulmonary Tuberculosis Leads to Pneumothorax: An Unusual Presentation

Catarina Giesta, Manuel D'Almeida, Sara Ferreira

Spontaneous secondary pneumothorax (SSP) is a rare but serious complication of pulmonary tuberculosis (TB), often resulting from cavitary lung disease. A 38-year-old male presented with pleuritic chest pain and fever, with imaging revealing a left-sided pneumothorax and cavitary lesions. Diagnosis was confirmed …

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Severe neonatal hyperbilirubinaemia in European and Indian subcontinent descendent newborns: a retrospective cohort study

Margarida Simão, Paula Rocha, Sara Ferreira, Diana Amaral et autres

Epilepsy and Cognition in GM2-Gangliosidosis B1 Variant – Experience of a Tertiary Hospital

Mariana M. Anjos, Sara Ferreira, Luísa Diogo, Joana Almeida et autres

Introduction: GM2 gangliosidosis B1 variant (GM2B1) is an autosomal recessive disorder due to deficiency of β-hexosaminidase A, leading to the lysosomal storage of GM2 gangliosides in neuronal tissue and neuronal death. Symptoms include progressive motor coordination impairment and neurodegeneration, in children with …

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Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte et autres

Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establishment and characterization of two MPS II …

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Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte et autres

Among the many Lysosomal Storage Disorders (LSDs) that would benefit from the establish-ment of novel cell models, either patient-derived or genetically engineered, is Mucopolysaccha-ridosis type II (MPS II). In fact, even though a specific therapeutic approach does exist for this disorder (Enzyme …

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Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses

Sofia Carvalho, Luciana Moreira, Juliana Inês Santos, Paulo Gaspar et autres

INTRODUCTION: When it comes to disease modeling, countless models are available for Lysosomal Storage Diseases (LSD). Historically, two major approaches are well-established: in vitro assessments are performed in patient fibroblasts, while in vivo pre-clinical studies are performed in mouse models. Still, both …

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Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?

Joana Pereira Mendes, Andréia Nogueira, Ema Grilo, Sara Ferreira et autres

BACKGROUND: Inherited metabolic diseases (IMD) bring considerable burden on the child and family. Challenging areas for health care include the identification of distressing symptoms, prognostic uncertainty, and bereavement. Literature regarding the impact of paediatric palliative care (PPC) is scarce. OBJECTIVE: This study …

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Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features

Rui Diogo, Inês Rua, Sara Ferreira, Célia Nogueira et autres

Methylmalonyl coenzyme A (CoA) epimerase (MCE) converts D-methylmalonyl-CoA into L-methylmalonyl CoA in the final common degradation pathway of valine, isoleucine, methionine, threonine, odd-chain fatty acids, and cholesterol side chains. Methylmalonyl-CoA epimerase deficiency is an ultra-rare autosomal recessive disorder where methylmalonic acid, methylcitrate, …

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Citrullinemia and What Else?

Joana Almeida, Fátima Ferreira, Nanci Baptista, Sara Ferreira et autres

INTRODUCTION: Citrullinemia type I (CTLN1) is a rare autosomal recessive metabolic disorder. Symptoms typically include vomiting, lethargy, seizures and coma. In neonatal presentation, death occurs in days if untreated. Survivors may evolve with neurocognitive dysfunction. RESULTS/CASE REPORT: Two 10 years old, non-identical, …

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Can high flow nasal cannula cause subcutaneous emphysema, pneumomediastinum and pneumothorax? -- a case report.

Joana Duarte, Sara Ferreira, Margarida Valério, Catarina Giesta et autres

Title: Can high flow nasal cannula cause subcutaneous emphysema, pneumomediastinum and pneumothorax? – a case report.Authors: JC Duarte1, S Ferreira1, M Valério1, C Giesta1, T Câmara1Serviço de Pneumologia, Centro Hospitalar do Médio Tejo, PortugalKeywords: high flow; emphysema; pneumothorax.

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