A5102022894- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Trypanosoma species research and implications
- Lysosomal Storage Disorders Research
- Immunodeficiency and Autoimmune Disorders
- Biochemical and Molecular Research
- Migration, Health and Trauma
- Epilepsy research and treatment
- Cancer Diagnosis and Treatment
- Oral Health Pathology and Treatment
- Blood disorders and treatments
- Diabetes and associated disorders
- Diabetic Foot Ulcer Assessment and Management
- Maternal and Perinatal Health Interventions
- Diabetes Management and Research
- Acute Ischemic Stroke Management
- Synthesis and Biological Evaluation
- Economic and Financial Impacts of Cancer
- Bone and Dental Protein Studies
- Venous Thromboembolism Diagnosis and Management
- Alkaline Phosphatase Research Studies
- Helminth infection and control
- Organ and Tissue Transplantation Research
- Systemic Sclerosis and Related Diseases
- Neutropenia and Cancer Infections
Centogene (Germany)
2019-2024
Centro Hospitalar do Tâmega e Sousa
2024
University of Minho
2023
University of Algarve
2022
Roche (Portugal)
2009-2017
University of Geneva
2016
Abstract Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by multitude of neurovisceral clinical manifestations fatal outcome with no effective treatment to date. Aiming gain insights into the genetic aspects disease, clinical, genetic, biomarker PPCS data from 602 patients referred 47 countries diagnosed NPC1 in our laboratory were analyzed. Patients’ dissected using Human Phenotype Ontology (HPO) terms, genotype–phenotype...
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early‐onset, refractory seizures associated with developmental regression or impairment, genetic landscape including genes implicated in various pathways mechanisms. We retrospectively studied the clinical data patients DEE who presented at two tertiary centers Egypt over 10‐year period. Exome sequencing was used for testing. report 74 from 63 unrelated Egyptian families,...
Mushroom extracts have shown potential as a source of new antimicrobial agents. This study investigates the chemical profile an aqueous ammonia extract obtained from carpophores Ganoderma lucidum, which grows on Quercus ilex trees, and explores its valorization biorational. The major constituents extract, identified through gas chromatography-mass spectrometry, include acetamide, oleic acid, 1,2,3,4-butanetetrol, monomethyl azelate, undecane, palmitic acid. anti-oomycete antifungal activity...
Cardiothoracic surgery patients have the risk of developing surgical site infections which cause hospital readmissions, increase healthcare costs, and may lead to mortality. This work aims tackle problem by predicting existence worrying alterations in wound images with a image analysis system based on artificial intelligence. The developed comprises deep learning segmentation model (MobileNet-Unet), detects region area categorizes type (chest, drain, leg), machine classification model,...
Cette étude évalue les symptômes dépressifs et le vécu de la grossesse du post-partum chez migrantes primo-arrivantes non francophones, lors d’une visite à domicile, 3 mois après l’accouchement. La plupart des femmes rapporte une forte anxiété durant fait état d’un important sentiment solitude d’isolement. présence soutien familial conjugal différenciait mères déprimées celles déprimées. Les résultats soulignent l’importance mise en place d’actions préventives d’étayage psychosocial...
We report on a male patient who was investigated for frequent apneic episodes, feeding problems, hypotonia, and left-sided middle cerebral artery infarction in the magnetic resonance imaging at 2 weeks of age. Primary diagnosis dihydropyrimidinase (DPYS) deficiency suspected following analysis urine organic acid; DPYS strongly suggested by presence dihydrouracil, thymine, uracil. Subsequent genetic evaluation whole exome sequencing revealed separate mutations, homozygous pathogenic variant...
According to the evidence, level of glycemic control is key importance in determining increased risk periodontal disease (PD). The aim study was evaluate role metabolic as a factor leading development and severity periodontitis compare oral hygiene status with glycated hemoglobin levels.
<title>Abstract</title> Marine halophytes are an outstanding reservoir of natural products and several species have anti-infectious traditional uses. However, little is known about their potential against neglected tropical ailments, such as Chagas disease. This work evaluated for the first time <italic>in vitro</italic> anti-<italic>Trypanosoma cruzi</italic> activity extracts from aromatic medicinal <italic>Helichrysum italicum</italic> subsp. <italic>picardii</italic> (Boiss. & Reut.)...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Using plants and their metabolites is a valuable strategy to tackle parasitic infections by gastrointestinal nematodes (GIN) in integrated control strategies aiming at reducing dependence on synthetic drugs. Several salt tolerant (halophytes) have ethnoveterinary uses as antiparasitic, are rich bioactive molecules (e.g., tannins), therefore potential sources of anthelminthic phytotherapeutic products. This work explored the tannins content vitro athlelminthic properties towards eggs larvae...