Simplified detection of Nci mutation in Gaucher disease.
Explore the source record for details and available documents.
Amino Acid Sequence↗
Biomedical subjects
M Lagerström
Publications and source records attributed to M Lagerström.
Influences of maternal smoking and fetal sex on maternal serum oestriol, prolactin, hCG, and hPI levels.
A total of 222 pregnant women had repeated hormone assays between 20 weeks and delivery; 86 of the women were smokers. The maternal hormone balance appeared to be affected by smoking. Smoking affected maternal serum levels of hPL and hCG in pregnancies with a female fetus whereas maternal serum concentrations of oestriol and prolactin were affected in pregnancies with a male fetus. Significantly higher hCG levels were found in mothers who smoked and had a girl than in those who smoked and had a boy. On the basis of our results we feel that smoking mainly affects the placenta.
Adult↗
Maternal serum levels of estriol, prolactin, human placental lactogen and chorionic gonadotrophin related to fetal sex in normal and abnormal pregnancies.
A total of 222 pregnant women had repeated hormone assays of prolactin, estriol, human chorionic gonadotrophin and placental lactogen between week 20 and delivery. The aim of this study was to investigate whether maternal serum levels of the above-mentioned hormones differed between normal and abnormal pregnancies, that is preterm, preterm small-for-date (SFD), SFD at-term and normal at-term deliveries, with special regard to fetal sex. The results of the present study indicated differences related to preterm deliveries and intrauterine growth retardation. This finding was reflected in the estriol levels when mothers of both boys and girls were included, suggesting a primary involvement of fetoplacental factors in these pathological pregnancies. However, when only mothers of girls were investigated, the development of growth retardation was mainly seen in maternal serum hPL differences, thus suggesting a placental involvement.
Chorionic Gonadotropin↗
Behavior at 10 and 13 years of age for children with low birth weight.
This study was based on data from a longitudinal research program. The cohort consisted of 874 normal children in an entire school grade in a Swedish community. The aim of the study was to investigate the relation between birth weight and behavior at school, for all children and for each sex separately. The results identified specific aspects of behaviour disorder significantly related to low birth weight (LBW) for children at the age of 10 but not at the age of 13. When the sexes were separated, there were no relations between birth weight and deviant behaviour for boys of low birth weight as compared to boys of normal birth weight, while girls of low birth weight showed specific behavioural disorders at age 10 as compared to girls of normal birth weight. For girls reared in families of low parental socioeconomic status, aggressiveness and motor restlessness at age 10 but not at age 13 was also present. Further analyses showed that girls born small-for-gestational age showed lack of school motivation and concentration difficulties both at age 10 and age 13.
Adolescent↗
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.
X-linked Amelogenesis imperfecta (AI) is a genetic disorder affecting the formation of enamel. In the present study two families, one with X-linked dominant and one with X-linked recessive AI, were studied by linkage analysis. Eleven cloned RFLP markers of known regional location were used. Evidence was obtained for linkage between the AI locus and the marker p782, defining the locus DXS85 at Xp22, by using two-point analysis. No recombination was scored between these two loci in 15 informative meioses, and a peak lod score (Zmax) of 4.45 was calculated at zero recombination fraction. Recombination was observed between the more distal locus DXS89 and AI, giving a peak lod score of 3.41 at a recombination fraction of .09. Recombination was also observed between the AI locus and the more proximal loci DXS43 and DXS41 (Zmax = 0.09 at theta max = 0.31 and Zmax = 0.61 at theta max = 0.28, respectively). Absence of linkage was observed between the AI locus and seven other loci, located proximal to DXS41 or on the long arm of the X chromosome. On the basis of two-point linkage analysis and analysis of crossover events, we propose the following order of loci at Xp22: DXS89-(AI, DXS85)-DXS43-DXS41-Xcen.
Amelogenesis Imperfecta↗
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
Three major forms (types I-III) of Gaucher disease (GD) have been identified. The largest group of patients with type III GD has been reported from the province of Norrbotten in Sweden. In the present study the genomes from two GD patients of Norrbottnian origin were examined for abnormalities in the glucocerebrosidase gene. In both individuals, a single nucleotide substitution was found in exon 10. This mutation, which results in the substitution of proline for leucine, is identical to the NciI mutation described by Tsuji and co-workers in GD patients of other ethnic origins. Nine additional patients with Norrbottnian GD were shown to be homozygous for the same mutation by restriction-enzyme digestion of DNA amplified by PCR.
Base Sequence↗
Perceived exertion related to heart rate and blood lactate during arm and leg exercise.
To compare some psychophysiological responses to arm exercise with those to leg exercise, an experiment was carried out on electronically braked bicycle ergometers, one being adapted for arm exercise. Eight healthy males took part in the experiment with stepwise increases in exercise intensity every 4 min: 40-70-100-150-200 W in cycling and 20-35-50-70-100 W in arm cranking. Towards the end of each 4 min period, ratings of perceived exertion were obtained on the RPE scale and on a new category ratio (CR) scale:heart rate (HR) and blood lactate accumulation (BL) were also measured. The responses obtained were about twice as high or more for arm cranking than for cycling. The biggest difference was found for BL and the smallest for HR and RPE. The incremental functions were similar in both activities, with approximately linear increases in HR and RPE and positively accelerating functions for CR (exponents about 1.9) and BL (exponents 2.5 and 3.3 respectively). When perceived exertion (according to the CR scale) was set as the dependent variable and a simple combination of HR and BL was used as the independent variable, a linear relationship was obtained for both kinds of exercise, as has previously been found in cycling, running, and walking. The results thus give support for the following generalization: For exercise of a steady state type with increasing loads the incremental curve for perceived exertion can be predicted from a simple combination of HR and BL.
Adult↗