12 documents found, page 1 of 2

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...

The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...

Age-Dependent Phenotypic and Molecular Evolution of Pediatric MDS Arising from ...

GATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare befor...

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

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

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Lemierre Syndrome in a Teenager Presenting as Pulmonary Septic Embolism

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

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 ...

Moduladores genéticos de vasculopatia cerebral em crianças com drepanocitose

A drepanocitose é uma doença genética causada pela mutação c.20A>T, em homozigotia, no gene da beta-globina, que leva à síntese de uma hemoglobina anómala – hemoglobina S. Para além da anemia hemolítica crónica, as manifestações clínicas são diversas e, em crianças, a mais grave é a vasculopatia cerebral que inclui os acidentes vasculares cerebrais (AVC) e os enfartes cerebrais silenciosos. Apesar de monogénica...

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...

Hidroxiureia (Hidroxicarbamida) na Doença de Células Falciformes