SciCombinator

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Concept: Anemias

146

Stroke is a major complication of sickle cell anaemia (SCA). It occurs commonly in childhood with about 10 % of children with sickle cell anaemia getting affected by this complication. In Uganda, there is paucity of data on the prevalence of stroke in children admitted in a tertiary institution. We determined the prevalence of stroke amongst children with SCA admitted to Mulago National Referral Hospital in Uganda and described the ir co-morbidities.

Concepts: Red blood cell, Sickle-cell disease, Sickle, Anemias

13

David Osrin and Edward Fottrell comment on new research by Frédéric Piel and colleagues on the growing burden of sickle cell anemia, and discuss the need for changing policy and health services in response to epidemiologic transitions in child mortality. Please see later in the article for the Editors' Summary.

Concepts: Red blood cell, Sickle-cell disease, Sickle, Hematopathology, Anemias

0

The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.

Concepts: Hemoglobin, Anemia, Zygosity, Compound heterozygosity, Hydrops fetalis, Anemia of chronic disease, Macrocytic anemia, Anemias

0

Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age.

Concepts: Bone marrow, Anemia, Blood disorders, Case, Endocrine system, Macrocytic anemia, Anemias

0

The purpose of this study is to determine and compare the prevalence of restless legs syndrome (RLS) between adult patients with sickle cell disease (SCD) and non-SCD anemia.

Concepts: Disease, Red blood cell, Syndromes, Sickle-cell disease, Sickle, Restless legs syndrome, Ferritin, Anemias

0

The purpose of this work was to (1) compare pharmacokinetic (PK) parameters for hydroxycarbamide in children receiving their first dose (HCnew ) versus those receiving chronic therapy (HCchronic ), (2) assess the external validity of a published PK dosing strategy, and (3) explore the accuracy of dosing strategies based on a limited number of HC measurements.

Concepts: Pharmacology, Red blood cell, Psychometrics, Pharmacokinetics, Sickle-cell disease, Strategy, Sickle, Anemias

0

To estimate the association between sickle cell anaemia or trait with dental and jaw bone abnormalities.

Concepts: Bone, Red blood cell, The Association, Sickle-cell disease, Sickle, Hematopathology, Haemolytic anaemias, Anemias

0

The aim of this study was to analyze the prevalence of dental and jaw changes in individuals with sickle cell anemia (SCA) compared with a control group from a Brazilian population.

Concepts: Scientific control, Red blood cell, Prevalence, Sickle-cell disease, Sickle, Anemias

0

Prescribing medicines in an off-label manner for children with chronic conditions is sparsely documented, even more so among developing countries. This needs addressing. The objective was to investigate the extent of this prescribing among children with epilepsy, asthma, and sickle cell anaemia in Nigeria.

Concepts: Medicine, Asthma, Medical terms, Red blood cell, Chronic, Sickle-cell disease, Sickle, Anemias

0

Exercise guidelines do not exist for individuals with sickle cell anemia (SCA) despite the impact of disease-related complications on physical functioning. Thirteen subjects (mean 15.1 ± 2.8 years old) with SCA were prescribed three exercise sessions/week for 12 weeks on a stationary bicycle placed at home. In total, 77% of subjects completed 89% of prescribed sessions without exercise-related adverse events, thus meeting feasibility and safety criteria. Adherence to prescribed duration and target heart rate during training decreased during the second half of the study. Future trials are warranted to further evaluate training benefits associated with regular exercise in children with SCA.

Concepts: Red blood cell, Sickle-cell disease, Sickle, Anemias