A5058613065- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- RNA modifications and cancer
- Clinical Nutrition and Gastroenterology
- Coenzyme Q10 studies and effects
- Intestinal Malrotation and Obstruction Disorders
- Amyotrophic Lateral Sclerosis Research
- Abdominal Trauma and Injuries
- Genomics and Rare Diseases
- Metabolomics and Mass Spectrometry Studies
- Biochemical Acid Research Studies
- Neonatal Respiratory Health Research
- Congenital heart defects research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Biotin and Related Studies
- Cancer, Stress, Anesthesia, and Immune Response
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Advanced battery technologies research
- Biochemical and Molecular Research
- Urologic and reproductive health conditions
- Lipid metabolism and biosynthesis
- Appendicitis Diagnosis and Management
- Digestive system and related health
- Olfactory and Sensory Function Studies
University of Coimbra
2004-2024
Institute for Biomedicine
2023
Theranostics (New Zealand)
2023
Hospitais da Universidade de Coimbra
2013-2022
Centro de Neurociências e Biologia Celular
2012
Nonketotic hyperglycinemia is a rare metabolic disorder with severe, frequently fatal, neurologic manifestations. Reliable and accurate diagnosis depends on careful interpretation of laboratory findings. The clinical suspicion should lead to determination glycine in plasma cerebrospinal fluid. Amino acid analysis presents diagnostic values for classic nonketotic hyperglycinemia, but it also be performed suspected cases atypical children seizures, failure thrive, behavior problems,...
13 C NMR isotopomer analysis was used to characterize intermediary metabolism in three colorectal cancer cell lines (WiDr, LS1034, and C2BBe1) determine the “metabolic remodeling” that occurs under hypoxia. Under normoxia, present high rates of lactate production can be seen as “Warburg” like cells independently substrate availability, since such profile dominant at both low glucose media contents. The LS1034 less glycolytic most affected by event hypoxia, raising abruptly consumption...
Arginine is an amino acid determinant in the metabolic, immune and reparative responses to severe trauma. The present study aims determine argininemia plasma arginine bioavailability (PAB) critical trauma patients analyze its correlation with prognosis.
MC, female, is the third child of a nonconsanguineous Portuguese couple, born after an uneventful pregnancy and delivery. A positive family history ornithine transcarbamylase deficiency, associated with IVS8+1 G>A mutation in gene, prompted prenatal diagnosis identification same proband. During episode Klebsiella pneumoniae sepsis at 1.5 months age, lactic acidosis moderate hyperammonemia were noticed. After short asymptomatic period, progressive neurologic symptoms, normal ammonemia,...
Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function.The objective this research to analyse value fasting stimulated citrullinemias in intestinal function evaluation.A case-control study was undertaken, including 11 patients with short bowel syndrome, 13 submitted malabsorptive bariatric surgery healthy controls. Plasma levels amino acids were determined, before after stimulation test oral Lglutamine, by ion exchange chromatography.Citrullinemia...
Leigh syndrome (LS) is clinically and genetically heterogeneous presents defective mitochondrial bioenergetics. Patients present neurological symptoms imagiological features that may result in early death [1]. The LS has been associated with DNA (mtDNA) variants, e.g., m.8993T>G (L156R) m.8993T>C (L156P), the MT-ATP6 gene. They lead to substitution of a highly conserved amino acid subunit 6 ATP synthase, affecting F0 domain synthesis [1-3]. We five cases family harbouring m.8993T>C+m.1555A>G...
Mitochondrial oxidative phosphorylation (OXPHOS) diseases are challenging both from clinical and therapeutic perspectives. The advent of next-generation sequencing (NGS) boosted the discovery new genetic defects affecting OXPHOS, with pathogenic variants identified in >350 genes to date [1]. However, many patients, novel unknown significance found. Subsequent functional studies may clarify its consequences modify variant's classification, establishing a diagnosis [2, 3].Analysis data...
Introducción: la hipoglutaminemia es común en los pacientes críticos, pero las indicaciones para suplementación con glutamina exógena siguen siendo controvertidas.Este estudio pretende determinar el perfi l de glutaminemia quirúrgicos críticos e investigar su correlación índices gravedad y pronóstico.Métodos: se realizó un prospectivo 28 adultos.Las aminoacidemias cuantifi caron mediante cromatografía intercambio iónico momento del ingreso primer tercer día, compararon 11 individuos sanos.Se...
<b><i>Background:</i></b> Frontotemporal lobar degeneration (FTLD) is the second most common early-onset dementia. Over last few decades, a growing number of evidence suggests mitochondrial involvement in neurodegeneration, namely modifications DNA (mtDNA) contributing to energy impairment. <b><i>Objective:</i></b> To sequence 7 mitochondrially encoded complex I <i>(MT-ND)</i> genes 70 FTLD patients and investigate respiratory chain...
Background: Propofol is extensively used for general anaesthesia although little known about possible genotoxic effects1. mechanism of action, such as uncoupling oxidative phosphorylation and inhibition electron transport chain, decrease the ability mitochondria to produce energy, through a complex mechanism2. Mitochondrial (Mt) function depends on proteins that are encoded by both nuclear DNA mtDNA, indicating mtDNA represents potential target. The aim this study was assess effect propofol,...
Introduction: Mitochondrial diseases are rare, heterogeneous, incurable and complex to diagnose. Probably due their rareness, there is still a lack of literacy in this area, especially society, but also schools general, health care services. Accordingly, tools that may bring advancement science needed. Mit.OnOff communication project based on bilateral partnership between the University Coimbra (Portugal) Bergen (Norway). It aims inform society about rare related mitochondrial cytopathies...
Abstract Background Pharmacological oncological treatments interfere with the patient’s quality of life on physical, psychological, and social dimensions. Besides all care in hosting conditions, hospital clowns (HCs) use artistic sketches aiming to reduce distress, but studies analyzing their effects biomarkers association psychological states are scarce. This study examined functioning related its effects, adult patients an ambulatory chemotherapy setting. Methods Following a pilot...