Association of laboratory markers and cerebral blood flow among sickle cell anemia children.

Background: Stroke is one of the highest complications of sickle-cell anemia (SCA). The Transcranial Doppler (TCD) has been adopted worldwide as a gold standard method for detecting alterations in the blood velocity in cerebral arteries. In this study, we investigated the association between laboratory parameters and increased cerebral blood flow velocity in Brazilian SCA pediatric patients.

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis.

Background: Niemann-Pick Disease Type C (NPC) is an inherited, often fatal neurovisceral lysosomal storage disease characterized by cholesterol accumulation in every cell with few known treatments. Defects in cholesterol transport cause sequestration of unesterified cholesterol within the endolysosomal system. The discovery that systemic administration of hydroxypropyl-beta cyclodextrin (HPβPD) to NPC mice could release trapped cholesterol from lysosomes, normalize cholesterol levels in the liver, and prolong life, led to expanded access use in NPC patients.

Laboratory and Genetic Biomarkers Associated with Cerebral Blood Flow Velocity in Hemoglobin SC Disease.

Reference values for cerebral blood flow velocity (CBFV) in hemoglobin SC disease (HbSC) have not been established. We aimed to investigate associations between laboratory and genetic biomarkers associated with CBFV in HbSC children. Sixty-eight HbSC children were included; CBFV was analyzed by transcranial Doppler, and the time-averaged maximum mean velocity (TAMMV) was estimated.

Comprehensive neuropsychological evaluation of children and adolescents with sickle cell anemia: a hospital-based sample.

Background: Individuals with sickle cell anemia may suffer symptomatic or silent cerebral infarcts leading to neurocognitive complications. This study investigated the cognitive and intellectual performance of children and adolescents with sickle cell anemia.

Methods: The socioeconomic status, clinical aspects and behavioral profile of 15 young individuals with sickle cell anemia were evaluated.

Transcranial Doppler in hemoglobin SC disease.

Background: Stroke is a severe clinical disorder in sickle cell disease (SCD), and few studies have evaluated transcranial Doppler (TCD) flow velocities in hemoglobin SC disease (HbSC). The guidelines for stroke risk are based on evaluations in sickle cell anemia (SCA) or HbS/β thalassemia.

Procedure: In this study, we compare cerebral blood flow in patients with SCD stratified by genotypes.

Prevalence of celiac disease in children with epilepsy.

Context: Neurological symptoms have been well-documented in patients with celiac disease, nevertheless, the presumption of a greater prevalence of epilepsy in celiac patients remains controversial.

Objectives: To determine the frequency of celiac disease in children and adolescents with idiopathic or cryptogenic epilepsy.

Methods: A cross-sectional study.

The importance of methylmalonic acid dosage on the assessment of patients with neurological manifestations following bariatric surgery.

Vitamin B12 or cyanocobalamin is an important substance that is included in several metabolic pathways. Its deficiency is a common event after bariatric surgery, decreasing the vitamin B12 absorption after almost all of the stomach and duodenum are eliminated from the digestion process. Neurological manifestations of cyanocobalamin deficiency are not uncommon.

What do Brazilian pediatricians know about celiac disease?

Introduction: Celiac disease (CD) is a common illness, affecting 0.5-1% of the population. Its classic presentation consists of gastrointestinal symptoms, however, many extra-intestinal symptoms and some associated diseases have been studied.

Incidence of diarrhea in children living in urban slums in Salvador, Brazil.

Diarrhea remains a major health issue in developing countries, with high morbidity and mortality rates. Determining the incidence of acute diarrhea in children and its associated factors is crucial to the planning of preventive approaches. The objective of this study was to determine the incidence of diarrhea and to assess some relevant associated factors to it in children younger than 40 months living in two slums of Salvador, Brazil.