33 documents found, page 1 of 4

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

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of...

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure...

Cross-contamination of lettuce with Campylobacter spp. via cooking salt during ...

Campylobacter spp. are the most common bacterial pathogens associated with human gastroenteritis in industrialized countries. Contaminated chicken is the food vehicle associated with the majority of reported cases of campylobacteriosis, either by the consumption of undercooked meat or via cross- contamination of ready-to-eat (RTE) foods during the handling of contaminated raw chicken parts and carcasses. Our re...

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...

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...

Hypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Di...

Hypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosin...

Malária – uma causa rara de colecistite aguda

A malária é uma das infecções parasitárias com maior impacto a nível mundial. Estão descritas várias complicações associadas, nomeadamente gastrointestinais. A colecistite acalculosa é uma complicação rara, cujo diagnóstico requer um elevado grau de suspeição. A colecistite acalculosa é caracterizada pela inflamação da vesícula biliar na ausência de cálculos, estando frequentemente associada a agressões fisioló...

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...

Acidose láctica associada à metformina – a hemodiálise está indicada?

A metformina é uma biguanida oral universalmente utilizada no tratamento da diabetes mellitus tipo 2. A sua depuração é maioritariamente renal e por isso deve ser usada com precaução nos doentes com doença renal. Elevadas concentrações plasmáticas de metformina podem levar a acidose láctica grave. A acidose láctica associada à metformina (MALA) é uma condição rara, mas potencialmente fatal. Como a metformina é ...