A5060487637- Hemophilia Treatment and Research
- Platelet Disorders and Treatments
- Venous Thromboembolism Diagnosis and Management
- Cardiac, Anesthesia and Surgical Outcomes
- Immunodeficiency and Autoimmune Disorders
- Blood groups and transfusion
- Total Knee Arthroplasty Outcomes
- Blood Coagulation and Thrombosis Mechanisms
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related gene regulation
- Cell Adhesion Molecules Research
- Blood disorders and treatments
- Blood transfusion and management
- Atherosclerosis and Cardiovascular Diseases
- COVID-19 and healthcare impacts
- Heparin-Induced Thrombocytopenia and Thrombosis
- Hemodynamic Monitoring and Therapy
- melanin and skin pigmentation
- Eosinophilic Disorders and Syndromes
- Hip and Femur Fractures
- Intramuscular injections and effects
- Hereditary Neurological Disorders
- Abdominal Surgery and Complications
- Neurogenetic and Muscular Disorders Research
- Orthopedic Infections and Treatments
Universidade do Porto
2013-2024
Hospital Txagorritxu
2023
Centro Hospitalar do Porto
2013-2023
Hospital de Santo António
1992-2022
Deutsche Nationalbibliothek
2022
Technische Universität Dresden
2022
Universidade Federal da Paraíba
2014
Hospital Universitario La Paz
2013
National Institute of Environmental Health Sciences
1994
A genetic polymorphism in the metabolism of anticonvulsant drug (S)-mephenytoin has been well documented humans. There are marked interracial differences frequency poor metabolizer phenotype, which comprises 2-5% Caucasian but 18-23% Asian populations. We have recently reported that principal defect responsible for phenotype is a single-base pair mutation exon 5 CYP2C19 (CYP2C19m), accounts approximately 75-83% defective alleles both Japanese and Caucasians subjects. In present study, we...
In acute portal vein thrombosis (APVT) unrelated to cirrhosis, anticoagulant therapy is classically started with low molecular weight heparin or vitamin K antagonists. New direct-acting oral anticoagulants (DOACs) are used in the treatment of venous outside splanchnic vascular bed, but not latter. We report a young female APVT occurring non-cirrhotic liver linked heterozygosity factor V-Leiden and prothrombin G20210A gene mutations. Rivaroxaban was started, total recanalization left partial...
Background Circulating endothelial cells (CEC) may be a biomarker of vascular injury and pro-thrombotic tendency, while circulating progenitor (CEP) an indicator for angiogenesis remodelling. However, there is not universally accepted standardized protocol to identify quantify these its clinical relevancy remains established. Objectives To CEC CEP in patients with venous thromboembolism (VTE) myeloproliferative neoplasms (MPN), characterize the expression activation (CD54, CD62E)...
Purpose: Knee arthropathy is a frequent complication affecting hemophilic patients, which can cause severe pain and disability. When conservative measures fail, total knee arthroplasty (TKA) may be performed. Methods: Eighteen TKA were performed in 15 patients with hemophilia during 24-year period Hemophilia Comprehensive Care Center. All evaluated by multidisciplinary team constituted hematologist, an orthopedic surgeon, physical medicine rehabilitation physician. Mean follow-up was 11.3...
We report the analysis by single-stranded conformation polymorphism of essential sequences factor VIII (FVIII) gene (total length about 14 kb) including entire coding sequence, flanking intronic and putative regulatory 5' to gene, in twelve unselected haemophilia A patients Portuguese origin. Direct sequencing fragments with an altered migration pattern led identification disease-producing mutations five patients. Three these mutations, namely a 1 bp insertion motif eight consecutive...
Background Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) ITGA2B/ITGB3-related thrombocytopenia. Objectives To describe a series patients familial decreased expression αIIbβ3 integrin due defects genes. Methods We reviewed clinical laboratory records 10 Portuguese families GTLS (33 11...
SUMMARY. The gel centrifugation test (GT) is a method of transfusion serology, based on the fact that, after centrifugation, unagglutinated red blood cells (RBC) pass easily through gel, while agglutinated RBC do not. introduction GT to our bank routine [strictly following manufacturer's instructions (DiaMed ID Micro Typing System)] resulted in problems with interpretation results. These were overcome modifications, which included; (1) systematic use 1% suspensions; (2) 50 μ1 suspensions and...
Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and myriad of often-serious clinical complications.Methods We established the laboratory phenotype genotype six unrelated pedigrees comprising ten patients with suspicion HPS; including aggregation, flow cytometry, dense granule content, electron microscopy high-throughput sequencing (HTS).Results The presentation showed significant heterogeneity...
: To evaluate the plasma levels of soluble endothelial cell molecules in patients with venous thromboembolism (VTE) out acute phase as compared healthy individuals. We also investigated possible associations among them, well other clinical and laboratory data, including numbers circulating cells (CEC), progenitor (CEP), CEC expressing activation-related [cluster differentiation (CD)54 CD62E] procoagulant (CD142) markers. In total, 15 VTE 20 normal individuals were studied. The CEP quantified...
Summary. Phenotypic expression of X‐linked recessive disorders, including haemophilia A, is rare in females. This report describes a female with sporadic severe A. The patient and her family members were evaluated by coagulation assays. Visible detectable disturbance X chromosome structure or number, as well 2N von Willebrand disease, excluded possible explanations the A phenotype. Molecular studies, factor VIII (FVIII) intron 22 inversion mutation analysis showed that phenotype result...
Summary Platelet‐type von Willebrand disease (PT‐VWD) is a rare autosomal dominant bleeding disorder characterized by an increased ristocetin‐induced platelet aggregation (RIPA) and enhanced affinity of glycoprotein Ibα (GPIbα) to factor (VWF). To date, only seven variants have been described with this gain‐of‐function effect, most them located in the C‐terminal disulphide loop VWF‐binding domain GPIbα. We herein describe patient moderate symptoms, mild thrombocytopenia RIPA. By direct...
Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased activity leads increased risk of bleeding events. During neonatal period, diagnosis made after post-partum complication or unexpected medical procedures. Subgaleal hemorrhage during period rare, severe extracranial with high mortality and usually related traumatic labor coagulation disorders. complications result from massive bleeding. We present neonate unremarkable...
Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital disorder characterized by the bilateral absence of and thrombocytopenia, sometimes other skeletal, gastrointestinal, cardiac, renal abnormalities. The underlying genetic defect usually compound inheritance microdeletion in 1q21.1 (null allele) low-frequency, non-coding single nucleotide variant (SNV) RBM8A gene (hypomorphic allele). We report three new cases from two unrelated families. siblings presented common genotype,...
Persons with haemophilia (PWH) used to represent a population high prevalence of hepatitis C virus (HCV) infection due the use contaminated blood products. Although goals antiviral therapy are same as general population, long real-life follow-up data regarding their outcomes still scarce. Our aim was report HCV and results in PWH.A retrospective analysis performed single-centre cohort PWH positive antibody. Outcomes registered were rate spontaneous clearance HCV, sustained virologic response...
Após a generalização da vacinação contra COVID-19, foram relatados efeitos adversos como trombose, hemorragia e trombocitopenia. Recentemente, após vacinação, foi reconhecido um síndrome raro com mortalidade elevada, caraterizado por uma combinação não usual de trombocitopenia em particular trombose dos seios venosos cerebrais, muitas semelhanças induzida pela heparina. Foram desenvolvidas diferentes recomendações na definição, diagnóstico tratamento destas raras complicações. Apresentamos...
ABSTRACT Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without molecular diagnosis. In this study, linkage analysis whole‐exome sequencing (WES) were performed to identify the causal gene in HSP family autosomal recessive inheritance. Multipoint revealed maximum significant multipoint LOD score 4.6 on chromosome 4. WES...