A5049073721- Platelet Disorders and Treatments
- Blood groups and transfusion
- Complement system in diseases
- Hemophilia Treatment and Research
- Renal Diseases and Glomerulopathies
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Iron Metabolism and Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- SARS-CoV-2 and COVID-19 Research
- Hemoglobinopathies and Related Disorders
- Biochemical and Molecular Research
- COVID-19 Clinical Research Studies
- T-cell and B-cell Immunology
- Influenza Virus Research Studies
- Immune Cell Function and Interaction
- Blood Coagulation and Thrombosis Mechanisms
- Cancer-related gene regulation
- Neonatal Health and Biochemistry
- Epigenetics and DNA Methylation
- COVID-19 epidemiological studies
- Digestive system and related health
- Magnesium in Health and Disease
- Folate and B Vitamins Research
- SARS-CoV-2 detection and testing
- Venous Thromboembolism Diagnosis and Management
Hospitais da Universidade de Coimbra
2011-2023
Patients with coronavirus disease-2019 may be discharged based on clinical resolution of symptoms, and evidence for viral RNA clearance from the upper respiratory tract. Understanding severe acute syndrome 2 (SARS-CoV-2) profile is crucial to establish a re-testing plan discharge ending isolation patients. We aimed evaluate number days that patient needed achieve undetectable levels SARS-CoV-2 in tract specimens (nasopharyngeal swab and/or an oropharyngeal swab). The persistence was...
Essentials•The differential diagnosis of acute thrombotic microangiopathy (TMA) is challenging.•To the ADAMTS13 activity < or >10% was added a next‐generation sequencing (NGS) gene panel.•The mutation p.Cys754Arg frequent in hereditary thrombocytopenic purpura.•We identified novel complement mutations and this procedure improved our diagnostic strategy.BackgroundThe 2 main forms are purpura (TTP) atypical hemolytic uremic syndrome (aHUS). Deficiency dysregulation pathway result TTP aHUS,...
Summary The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable tendency and heterogeneous laboratory phenotype. sequencing entire VWF coding region has not yet become routine practice in diagnostic laboratories owing to its high costs. Nevertheless, nextgeneration (NGS) emerged as an alternative overcome this limitation. We aimed determine correlation genotype phenotype 92 Portuguese individuals from 60 unrelated families...
Summary. Haemophilia A (HA), the most commonly inherited bleeding disorder, has well known phenotype heterogeneity, influenced by type of mutation, modulating factors and development inhibitors. Nowadays, new technologies in association with bioinformatics tools allow a better genotype/phenotype correlation. With main objective identifying familial carrier women to offer prenatal diagnosis, 141 HA patients belonging 103 families, followed or referred Centre CHC, E.P.E., were studied....
Abstract Introduction Inherited protein C ( PC ) deficiency is a well‐known risk factor for venous thrombosis VT ). Plasma levels are reliable in moderate to severe deficiencies; however, mildly deficient individuals, the may overlap with those considered normal. Genetic studies of PROC , which encodes could help identify carriers; genome‐wide association GWAS have shown that approximately 50% phenotypic variation caused by cumulative effects mutations several other loci namely PROCR ....
: We bring the case of a 38-year-old man who was presented to emergency department with nausea, fever, and choluria, 4 days after ingestion raw oysters. Analytical study revealed thrombocytopenia acute kidney injury that were associated possible thrombotic microangiopathy. Therapeutic plasma exchange started resolution manifestations obtained. To identify cause microangiopathy molecular performed pathogenic variant in MCP gene, c.287-2A>G (splice acceptor) heterozygous state concomitant...
Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of heterozygous carrier mutation on both factor H and membrane cofactor protein, who persistently presents anaemia without need for blood transfusions, normal platelet count, renal function no signs or symptoms organ injury thrombotic microangiopathy 4 years after diagnosis aHUS.
Hypomagnesemia type I is a rare autosomal recessive disorder characterized by severe hypomagnesemia, often accompanied hypocalcemia.This disease caused mutations in the TRPM6 gene (which encodes respective channel), leading to reduced intestinal absorption of magnesium and increased renal excretion due defect reabsorption distal convoluted tubule.It usually manifests itself first months life, with symptoms neuromuscular hyperexcitability seizures, refractory antiepileptic therapy.Treatment...