A5019336725- Lysosomal Storage Disorders Research
- Glycosylation and Glycoproteins Research
- Trypanosoma species research and implications
- Proteoglycans and glycosaminoglycans research
- Cellular transport and secretion
- Alzheimer's disease research and treatments
- Blood Pressure and Hypertension Studies
- Carbohydrate Chemistry and Synthesis
- Nutritional Studies and Diet
- Biomedical Research and Pathophysiology
- Protease and Inhibitor Mechanisms
- Research on Leishmaniasis Studies
- Platelet Disorders and Treatments
- Adipose Tissue and Metabolism
- Physiological and biochemical adaptations
- Biochemical Acid Research Studies
- Global Health and Epidemiology
- Advanced MRI Techniques and Applications
- Cardiovascular Health and Disease Prevention
- Diet and metabolism studies
- Sinusitis and nasal conditions
- Virus-based gene therapy research
- Cerebral Palsy and Movement Disorders
- 3D Surveying and Cultural Heritage
- Assisted Reproductive Technology and Twin Pregnancy
Centre Hospitalier Universitaire Sainte-Justine
2020-2025
Bridgeport Hospital
2023
Universidade Estadual de Campinas (UNICAMP)
2023
British Society of Periodontology
2022
Universidade Federal de São Paulo
2012-2020
Centro Universitário FEI
2019
Instituto de Ciencias Tecnológicas
2012
Universidade Federal do Pará
2011
Universidade Nova de Lisboa
2004
Mucopolysaccharidoses (MPS) are the group of lysosomal storage disorders caused by deficiencies enzymes involved in stepwise degradation glycosaminoglycans. To identify brain pathology common for neurological MPS, we conducted a comprehensive analysis cortex tissues from post-mortem autopsy materials eight patients affected with MPS I, II, IIIA, IIIC, and IIID, age-matched controls. Frozen were analyzed abundance glycosaminoglycans (heparan, dermatan, keratan sulfates) LC-MS/MS,...
Neuronal accumulation of amyloid aggregates is a hallmark brain pathology in neurological lysosomal storage diseases (LSDs) including mucopolysaccharidoses (MPS), however, the molecular mechanism underlying this has not been understood. We demonstrate that elevated cathepsin B (CTSB) levels and CTSB leakage to cytoplasm triggers amyloidogenesis two LSDs. were 3-5-fold cortices mouse models MPS IIIC ( Hgsnat-Geo Hgsnat P304L ) sialidosis Neu1 ΔEx3 ), as well cortical samples I, IIIA, IIID...
Neuronal accumulation of amyloid aggregates is a hallmark brain pathology in neurological lysosomal storage diseases (LSDs), including mucopolysaccharidoses (MPS); however, the molecular mechanism underlying this has not been understood. We demonstrate that elevated cathepsin B (CTSB) levels and CTSB leakage to cytoplasm triggers amyloidogenesis two LSDs. were 3- 5-fold cortices mouse models MPS IIIC (Hgsnat-Geo Hgsnat P304L ) sialidosis (Neu1 ΔEx3 ), as well cortical samples I, IIIA, IIIC,...
Aims : To evaluate the clinicopathological profile of 14 cases nasal and paranasal sinusal adenocarcinoma, to assess usefulness immunohistochemistry in differential diagnosis primary metastatic intestinal‐type adenocarcinoma. Methods results Fourteen treated at IPOFG, Lisbon, between 1976 2002, were studied. Clinical records reviewed expression cytokeratin (CK)7 CK20 neuroendocrine markers was evaluated. The male female ratio 3 1, mean age patients 65.3 years. Ten occurred sinuses. There a...
Abstract Activated proximal tubular epithelial cells (PTECs) play a crucial role in progressive tubulo-interstitial fibrosis native and transplanted kidneys. Targeting PTECs by non-viral delivery vectors might be useful to influence the expression of important genes and/or proteins order slow down renal function loss. However, no clinical therapies that specifically target are available at present. We earlier showed cationic cell penetrating peptide isolated from South American rattlesnake...
Mucopolysaccharidosis type I (MPS I) is caused by genetic deficiency of α-l-iduronidase and impairment lysosomal catabolism heparan sulfate dermatan sulfate. In the brain, these substrates accumulate in lysosomes neurons glial cells, leading to neuroinflammation neurodegeneration. Their storage also affects homeostasis-inducing activity several proteases including cathepsin B (CATB). central nervous system, increased CATB has been associated with deposition amyloid plaques due an alternative...
Mucopolysaccharidosis type I (MPS I), a rare autosomal recessive disease, is caused by deficiency of the lysosomal enzyme alfa-L-iduronidase. Impaired activity promotes glycosaminoglycans accumulation in several tissues and organs, leading to complex multisystemic complications. Several studies using animal models indicated different intracellular pathways involving MPS physiopathology; however, exact mechanisms underlying this syndrome are still not understood. Previous results from our...
Protease-activated receptors (PARs) are G protein–coupled receptors, which activated by proteolytical cleavage of the amino-terminus and act as sensors for extracellular proteases. We hypothesized that PAR-1 PAR-2 can be modulated inflammatory stimulus in human dental pulp cells. gene expression tissue MDPC-23 cells were analyzed quantitative polymerase chain reaction. Monoclonal antibodies used to investigate cellular these using Western blot, flow cytometry, confocal microscopy...
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by alpha‐L‐iduronidase deficiency in which heparan and dermatan sulfate degradation compromised. Besides primary lysosomal glycosaminoglycan accumulation, further changes cellular functions have also been described several murine MPS models. Herein, we evaluated alterations hematopoiesis its implications on the production of mature progeny model. Despite significant increase hematopoietic stem cells, reduction...
Context. Numerous reports suggest an association between SGLT2 inhibitors and DKA. Since the use of these drugs for diabetes has increased dramatically, identification patients at greatest risk this life-threatening complication is essential. Objective. To describe clinical biochemical characteristics all reported cases DKA associated with inhibitor in type 2 mellitus to identify potential factors. Design. A retrospective case series was conducted March 2013 August 2019 using electronic...
Purpose: To evaluate the visual system of patients suffering from type I or VI mucopolysaccharidosis (MPS) by recording evoked cortical potential (VECP). Methods: Two with MPS and 2 were tested before after enzyme replacement therapy (ERT). A control group 20 subjects was for statistical comparison. VECP elicited monocular stimulation 1-Hz phase-reversal checkerboard patterns at 0.5 cycles per degree 16° field. In all patients, both eyes tested. amplitude latency measured compared tolerance...
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion GAG, improve some patients' clinical signs. We studied biochemical molecular characteristics nine MPS patients (two I, four II three VI) undergoing ERT in northern Brazil. The responsiveness was evaluated through GAG measurements. Patients were...
We investigated the role of glycosaminoglycans (GAGs) in regulation endothelial nitric oxide synthase (eNOS) activity wild-type CHO-K1 cells and xylosyltransferase-deficient CHO-745 cells. GAGs inhibit integrin/FAK/PI3K/AKT signaling pathway cells, decreasing phosphorylation eNOS at Ser1177. Furthermore, PKCα are localized sphingolipid- cholesterol-rich domains plasma membrane called caveolae. At caveolae, activation stimulates on Thr495, resulting further inhibition NO production these In...
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease caused by deficiency of the hydrolase, α-L-iduronidase (IDUA). IDUA degrades heparan and dermatan sulfates, two types glycosaminoglycan (GAG), important signalling structural molecules extracellular matrix. Because many cell store GAGs, MPS has been investigated in human animal models. Enzyme replacement therapy available for patients improved their life expectancy, allowing them to achieve reproductive age. The aim this...
The use of 3D reconstruction, along with immersive technologies, is a technique used in several areas research and development. Currently, the most common strategy for performing this type reconstruction using stereoscopic camera model. problem worsens when challenge involves unstructured scenes, which are scenes that have an ill-defined cognitive architecture. present work proposes methodology surfaces monocular cameras. Thus, modern AI techniques, Computer Vision Graphics techniques been...
Objective: The values used to define white-coat and masked blood pressure (BP) effects are usually arbitrary. This study aimed at investigating the accuracy of various thresholds based on differences (DBP) between office BP (OBP) 24h-ambulatory monitoring (ABPM) identify (WCH) (MH) hypertension, which phenotypes assumed carry adverse prognosis. Design method: cross-sectional included 11,350 [Derivation cohort; 45% men, mean age = 55.1 ± 14.1 years, OBP 132.1 17.6/83.9 12.5 mmHg, ABPM 121.6...
Comparar as prevalências das internações e óbitos por Leishmaniose entre regiões brasileiras no período de 2010 a 2020. Trata-se um estudo retrospectivo, descritivo, quantitativo, base documental. As variáveis utilizadas foram: sociodemográficas (sexo, faixa etária etnia) clínicas (número média permanência, taxa mortalidade, caráter, regime atendimento custos internações). Os dados foram obtidos do Sistema Informações Hospitalares SUS (SIH/SUS), pelo Departamento informática (DATASUS). No...