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Maracaibo, Venezuela

Chavez C.J.,Institute Investigaciones Biologicas | Ortega P.,Institute Investigaciones Biologicas | Leal J.,Institute Investigaciones Biologicas | D'Escrivan A.,University of Zulia | And 2 more authors.
Anales de Pediatria | Year: 2010

Introduction: Vitamin A deficiency (VAD) is a worldwide public health problem. Epidemiological studies of VAD prevalence have been conducted in individuals with chromosome load and genetic potential compared with the general population; however, there are few studies in patients with Down's syndrome (DS). The objective of this study was to determine the prevalence of VAD and analyse nutritional status in patients with DS. Methods: A prospective and cross-sectional study was performed, with 50 karyotypically normal (KN) individuals (10.4±3.7 years old) and 38 randomly selected patients with DS (8.2±4.1 years old). Serum retinol was determined by HPLC using the Bieri method, with an international reference standard to define VAD (serum retinol < 20 μg/dL). The data were analysed using the SAS/STAT statistical program. Results: The prevalence of VAD was 18.4% in individuals with DS and 4% in KN individuals (OR: 5.42; 95% CI=0.93 - 40.64; p=0.02). Children with DS between two and six years old shown a significativily lower serum retinol (p=< 0.05).The patients with DS also showed a significant decrease in height and weight compared to KN (p=< 0.001). Conclusions: The prevalence of VAD detected in patients with DS could be considered a public health problem. Also, the chromosome 21 trisomy represent a risk factor associated with VAD. © 2009 Asociación Española de Pediatría.

Gomez-Manzo S.,Laboratorio Of Bioquimica Genetica | Lopez-Velazquez G.,Laboratorio Of Bioquimica Genetica | Garcia-Torres I.,Laboratorio Of Bioquimica Genetica | Hernandez-Alcantara G.,National Autonomous University of Mexico | And 8 more authors.
Acta Bioquimica Clinica Latinoamericana | Year: 2014

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzymopathy in humans with a global prevalence of 4.9 % and around 330 to 400 million patients affected worldwide. G6PD plays a fundamental role in the intracellular redox equilibrium, especially in red blood cells (RBC). Under oxidative stress (induced by exposure to external agents like drugs, infections or diet) RBC carrying the deficient variant suffer irreversible damage resulting in their accelerated destruction. This hemolysis explains the clinical manifestations of the disease that include neonatal jaundice, induced acute hemolysis or chronic hemolytic anemia. This work summarizes the epidemiologic and clinical features of G6PD deficiency, and reviews the molecular pathophysiology of this disease with special emphasis on the genetical, structural and functional characterization of variants causing this pathology.

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