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Browsing HEM PED - Artigos by Subject "Adolescent"
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- Biomarkers and Genetic Modulators of Cerebral Vasculopathy in Sub-Saharan Ancestry Children With Sickle Cell AnemiaPublication . Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Silva, R; Kjöllerström, P; Faustino, PWe 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, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. An additional positive relationship between a genetic variant and stroke risk was observed for ENPP1 rs1044498_A. Conversely, NOS3 variants were negatively associated with silent cerebral infarct events (VNTR 4b_allele and haplotype V) and CV globally (haplotype VII). The -alpha3.7kb-thal deletion did not show association with CV. However, it was associated with higher red blood cell and neutrophil counts, and lower mean corpuscular volume, mean corpuscular hemoglobin and red cell distribution width. Our results underline the importance of genetic modulators of the CV sub-phenotype and their potential as SCA therapeutic targets. We also propose that a biomarker panel comprising biochemical, hematological, imaging and genetic data would be instrumental for CV prediction, and prevention.
- Comparison of Outcomes of Immunosuppressive Therapy with Rabbit versus Horse Antithymocyte Globulin and Cyclosporine a in Children with Acquired Severe Aplastic Anemia.Publication . Yoshimi, Ayami; Noellke, Peter; Starý, Jan; Kállay, Krisztián; Smith, Owen; Locatelli, Franco; Buechner, Jochen; Bodova, Ivana; Sevilla, Julian; Schmugge, Markus; Bierings, Marc; Masmas, Tania; Dworzak, Michael; Labarque, Veerle; Pawelec, Katarzyna; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kjollerstrom, Paula; Kavcic, Marko; Erlacher, Miriam; Niemeyer, Charlotte M; Strahm, Brigitte
- Haemophilia A: Health and Economic Burden of a Rare Disease in PortugalPublication . Café, A; Carvalho, M; Crato, M; Faria, M; Kjollerstrom, P; Oliveira, C; Pinto, PR; Salvado, R; Dos Santos, AA; Silva, CHaemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal.
- Lemierre Syndrome in a Teenager Presenting as Pulmonary Septic EmbolismPublication . Domingues, R; Neves, JF; Candeias, F; Kjöllerström, P; Brito, MJLemierre 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.
- Mental Nerve Neuropathy: A Rare Manifestation in Sickle Cell DiseasePublication . Alcafache, M; Santos, S; Sassetti, M; Batalha, S; Maia, R; Lopes da Silva, R; Kjöllerström, PMental 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. The authors present the case of an adolescent girl with numb chin symptoms during a multifocal sickle cell crisis. The aim is to briefly review the causes of numb chin syndrome, emphasizing the differential diagnosis in sickle cell patients
- Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parametersPublication . Aguiar, L; Matos, A; Gil, A; Afonso, C; Almeida, S; Braga, L; Lavinha, J; Kjollerstrom, P; Faustino, P; Bicho, M; Inácio, ASickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity.