17 documents found, page 1 of 2

Eltrombopag Use in Children with Persistent and Chronic Primary Immune Thromboc...

Cross-Sectional Epidemiological Study to Understand the Approach to Treatment i...

Introduction: Treatment options for patients with hemophilia B (PWHB) have improved in the last decade, but epidemiological studies are required to optimize clinical management and define unmet needs. Objective: The objective of the study is to investigate current disease management and quality of life (QoL) in PWHB in Spain and Portugal. Methods: Epidemiological, cross-sectional, multicenter study with moderat...

Neuroimaging Findings in Paediatric Patients with Sickle Cell Disease

Sickle cell disease (SCD) is an autosomal recessive haemoglobinopathy, which manifests as multisystem ischaemia and infarction, as well as haemolytic anaemia. The morphological changes of red blood cells (RBCs) that promote ischaemia/infarction as the main multi-systemic manifestation, with associated vasculopathy, may also lead to haemorrhage and fat embolisation. Bone infarctions, whether of the skull or spin...

Neonatal Acute Compartment Syndrome as First Manifestation of Hematologic Disea...

Hemophilia A, characterized by deficiency of functional plasma clotting factor VIII, is an X-linked disorder. Signs and symptoms depend on factor VIII levels. Severe hemophilia A (factor levels less than 1%) is usually diagnosed in the first two years of life. Pediatric compartment syndrome is most associated with trauma, but infectious and vascular causes must also be considered. We report a case of a newborn ...

Spontaneous Neonatal Humeral Artery Thromboembolism: a Case Report

Lemierre Syndrome in a Teenager Presenting as Pulmonary Septic Embolism

Lemierre syndrome is easily missed and may be more common than generally believed. Usually a complication of a deep neck abscess, it can present suddenly with shortness of breath and hypoxemia. Accurate diagnosis and orientation are mandatory for the treatment of an otherwise potentially life-threatening disease. We describe a case of an adolescent with Lemierre syndrome and septic pulmonary embolism.

Osteoarticular Infections in Paediatric Sickle Cell Disease: in the Era of Mult...

Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ances...

We investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery...

Genetic Modulators of Fetal Hemoglobin Expression and Ischemic Stroke Occurrenc...

Sickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic st...

Mental Nerve Neuropathy: A Rare Manifestation in Sickle Cell Disease

Mental nerve neuropathy is a peripheral sensory neuropathy, characterized by acute numbness of the chin area. It is a rare entity with diverse aetiology including, among others, local odontogenic causes and malignancy. In rare cases, it might be associated with sickle cell disease, due to the combined presence of hyperviscosity and the sinuous course of the mental nerve and artery through the mental foramen. Th...