Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots.

Background: Mucopolysaccharidosis I (MPS I) is a genetic disorder caused by deficiency of L-iduronidase (IDUA) activity. Heterozygote screening is a highly requested service by risk families; however, determination of IDUA activity alone is not sufficient to discriminate between heterozygotes and normal individuals because a significant overlap occurs between them. The aim of this study was to characterize the enzyme eluted from heterozygote's dried blood samples and determine if there are differences with that of normal individuals.

Optimization of enzymatic diagnosis for mucopolysaccharidosis I in dried blood spots on filter paper.

Objectives: The aim of this study was to validate an ultramicroassay with a reduced interference of hemoglobin for the enzymatic diagnosis of mucopolysaccharidosis I in dried blood spots on filter paper.

Design And Methods: A matrix of dried blood was incorporated within the calibration system. In addition, trichloroacetic acid was added to precipitate hemoglobin.

The use of a Toolkit for health needs assessment on neural tube defects in Argentina.

Health needs assessment (HNA) is a commonly used process for those working in public health. The PHG Foundation has developed a Toolkit to provide users with a stepwise approach for undertaking a HNA on birth defects. We report the findings from using the Toolkit to examine needs in relation to policies and programs, services, and interventions for neural tube defects (NTDs) in Argentina.

Influence of maternal redox status on birth weight.

The aim of this study was to determine the influence that maternal redox status, between 30 and 36 weeks of healthy human pregnancy, has on birth weight. Ferric reducing potential (FRP), extracellular superoxide dismutase (ecSOD) activity and erythrocyte reduced glutathione (eGSH) concentration were measured as antioxidant indicators, and serum malondialdehyde (MDA) concentration as a lipoperoxidation indicator. Consumption of dietary micronutrients with antioxidant capacity was recorded.

A genome-wide linkage search for bipolar disorder susceptibility loci in a large and complex pedigree from the eastern part of Cuba.

We present results from a genome-wide scan of a six generation pedigree with 28 affected members with apparently dominant bipolar I disorder from eastern Cuba. Genotypes were obtained using the early access version of the Genechip Mapping 10K Xba array from AFFYMETRIX. Parametric and non-parametric linkage analyses under dominant and recessive models were performed using GENEHUNTER v2.

Etiological characterization of 512 severely mentally retarded institutionalized patients in havana.

Objective: To investigate etiological factors in severe mental retardation (SMR).

Methods: An etiological study is presented of 512 SMR patients in five specialized institutions in Havana.

Results: Prenatal, perinatal and postnatal causes were apparent in 58.

Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease.

The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD.

Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families.

We tested the frequency of the delta F508 mutation and haplotypes linked to the cystic fibrosis (CF) gene in Cuba. The delta F508 deletion was detected in 34.0% of the CF chromosomes.

Search for the chromosomal location of autosomal dominant cerebellar ataxia from Holguin, Cuba: exclusion from candidate regions on chromosome 4 and 11q.

A gene locus for autosomal dominant cerebellar ataxia (ADCA) has been found on chromosome 6p and named spinocerebellar ataxia 1. However, linkage exclusion from chromosome 6p and thus locus heterogeneity has been proven in Cuban ADCA, the largest known collective of ADCA patients, probably due to a founder effect. Two chromosomal regions were analyzed for linkage to Cuban ADCA: chromosome 4, since a pericentromeric inversion has been reported in a member of a European ADCA family, and chromosome 11q22-23, since it is known to contain the gene locus for ataxia telangiectasia, the main autosomal recessive disorder of cerebellar degeneration.

Altered ratio of collagen chains in bone of a patient with non-lethal osteogenesis imperfecta.

Bone from a patient with osteogenesis imperfecta contained type III collagen which was absent in control bone. The ratio of alpha 1(I)/alpha 2(I) in type I collagen of patient's bone was increased (2.9 vs.

Restriction fragment length polymorphisms of three collagen genes in Russians and Buryats.

The restriction fragment length polymorphisms (RFLPs) of 3 collagen genes have been studied in two USSR populations. Four high-frequency alleles, also reported in other populations, were observed. The frequencies of alleles for the polymorphic sites MspI and EcoRI of the COL1A2 gene, HindIII of the COL2A1 gene and EcoRI of the COL3A1 gene were found to be 0.

Primary prevention of neural tube defects with folic acid supplementation: Cuban experience.

Folic acid (5 mg) was given daily, for not less than one menstrual period before conception and until the tenth week of pregnancy, to 81 women (FS) with a history of a previous neural tube defect (NTD) birth. There was no NTD recurrence among this group or among the offspring of a further 20 women (PS) whose folic acid supplementation fell short of the full regime. In another 114 women who became pregnant without folic acid supplementation (US), there were four NTD recurrences (3.