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Biomedical subjects

R Hauspie

Publications and source records attributed to R Hauspie.

16 recordsLinked to original sources
PubMed2005

Influence of hOGG1, XRCC1 and XRCC3 genotypes on biomarkers of genotoxicity in workers exposed to cobalt or hard metal dusts.

Identification of genetic polymorphisms responsible for reduced DNA repair capacity may allow better cancer prevention. We examined whether variations in genes involved in base-excision (hOGG1, XRCC1) and double strand break (XRCC3) DNA repair contribute to inter-individual differences in genotoxic effects induced in the lymphocytes of 21 cobalt (Co) exposed, 26 hard metal (WC-Co) exposed and 26 matched control male workers. Genotyping was performed by PCR-RFLP. DNA single strand breaks and alkali-labile sites were measured by the alkaline Comet assay. Chromosomal rearrangements resulting from chromosome loss or acentric fragments were assessed as micronucleated mononucleates (MNMC) and binucleates (MNCB) with the cytokinesis-block micronucleus test. Urinary 8-hydroxydeoxyguanosine (8-OHdG) levels were used as an indicator of systemic oxidative DNA damage. A significantly higher frequency of MNMC was observed in WC-Co exposed workers with variant hOGG1(326) genotype. Multivariate analysis performed with genotypes, age, exposure status, type of plant, smoking and their interaction terms as independent variables indicated that MNMC and Comet tail DNA (TD) were influenced by genetic polymorphisms. In the exposed and total populations, workers variant for both XRCC3 and hOGG1 had elevated MNMC frequencies. Further studies will demonstrate whether genotyping for hOGG1 and XRCC3 polymorphisms is useful for a better individual monitoring of workers.

8-Hydroxy-2'-Deoxyguanosine↗
PubMed2001

Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study.

BACKGROUND: Longitudinal growth and bone age (BA) development are the most important clinical parameters for monitoring adequate glucocorticoid replacement in children with congenital adrenal hyperplasia (CAH). AIM OF THE STUDY: To analyze the growth pattern of patients treated for CAH of the salt wasting (SW) and simple virilizing (SV) clinical forms; to evaluate final height as compared to reference data and individual target height; to evaluate the course of BA development. PATIENTS AND METHODS: A large database of 598 patients with CAH was created in 5 Central European countries and growth data of 341 treated patients with 21-hydroxylase deficiency were analyzed retrospectively. The patients were of Caucasian origin. Centiles were constructed in a cross-sectional manner and an additional longitudinal analysis was performed in order to evaluate the pubertal growth spurt by applying particular statistical methods (Preece-Baines model). RESULTS: The growth of SW CAH patients was impaired in infancy and early childhood (0-3 years of age), but followed normal patterns in childhood until puberty. In contrast, children with SV CAH had normal patterns of growth in infancy and early childhood and were considerably taller than healthy references during childhood. In the longitudinal study, peak height velocity in both boys and girls was normal, but it occurred at an earlier age than in the standard population. The final height of patients with CAH was reduced in comparison to both the reference and the individual target height. No correlations were found between final height and age at the start of the therapy in SV patients or between final height and year of birth. BA was advanced in both types of CAH, but more accelerated in SV patients. CONCLUSION: Characteristic growth patterns for treated SV and SW CAH children were identified, with a normal pubertal growth spurt and reduced final height being observed.

Adolescent↗
PubMed1992

Effects of genetic and environmental factors on the a-b, b-c and c-d interdigital ridge counts.

A study of 100 MZ (55 female and 45 male) and 97 DZ (50 male and 47 female) same-sexed twin pairs was carried out to analyse the genetic component of the variance of the a-b, b-c and c-d interdigital ridge counts by means of the Christian method. Especially for the a-b interdigital ridge count, we found it important to analyse both sexes separately. Our results suggest that the a-b count in males seems to be more influenced by environmental factors than the other counts. For females, the three interdigital counts seem to have a strong genetic component influencing their phenotypic expression. Factor analysis with VARIMAX rotation showed each interdigital ridge count to be genetically independent.

Dermatoglyphics↗
PubMed1991

Genetic determinants of EEG sleep: a study in twins living apart.

In order to investigate the genetic components of sleep and, in particular, of REM sleep, we performed 3 consecutive all-night EEG recordings in 26 pairs of normal male twins living apart (11 monozygotic and 15 dizygotic). Our results indicate that in man non-genetic rather than genetic influences substantially determine variance in stage REM, in contrast to stages 2, 4 and to delta sleep. In this sample of male twins, waking measures also showed a significant genetic component.

Adult↗
PubMed1989

EEG sleep patterns in man: a twin study.

All-night EEG sleep recording was performed for 3 consecutive nights in 26 pairs of normal male twins (14 monozygotic and 12 dizygotic) in order to investigate genetic components of sleep. The analysis was based on average values of repeated sleep measures and controlled for the effect of cohabitation. Our results indicate that a significant proportion of variance in stages 2, 4 and delta sleep as well as in REM density is genetically determined in man. Genetic influences on stage 1 and REM are strongly confounded by a synchronizing effect of the cohabitational status.

Adolescent↗
PubMed1985

Growth in weight of African babies, aged 0-24 months, living in a rural area at the Lake Tumba, Zaire.

Weight charts in two rural African populations (Ntomba Oto and Twa) have been constructed on the basis of 26,330 measurements of weight of babies aged from birth to 24 months. Centile lines were produced by fitting the Jenss-Bayley growth curve to the respective centile values calculated at each age. The average patterns of increase in weight in boys and girls in the two populations are compared with those in other populations.

Age Factors↗
PubMed1985

Age changes of skull dimensions.

At cranial level, external apposition during ageing has been postulated by some authors. In longitudinal studies, a gradual increase of cranial diameters has been shown by cephalometry (Kendrick et al. 1967) or by lateral radiography (Israel 1968, 1970). However, these results are contested at methodological level by other longitudinal studies (Tallgren 1974). It is the aim of this study to analyse, in a cross-sectional sample, the effects of senescence on several cephalic dimensions. A series of skulls of known age and sex has been selected for this purpose.

Adult↗
PubMed1977

Maturational delay and temporal growth retardation in asthmatic boys.

Growth in height, bone age, and sexual maturation have been studied in asthmatic boys 2 to 20 yr of age. The mean pattern of growth in height has been analyzed mixed-longitudinally in 531 patients (1,754 measures) and seemed to be determined by a delay in physiologic maturation. The asthmatic boys' growth in height showed no retardation during infancy, a small but consistent retardation during childhood, a more pronounced delay at adolescence, and a catch-up growth toward adulthood. The mean adolescent growth spurt is delayed by about 1.3 yr. Bone age has been analyzed mixed-longitudinally in a subsample of 370 patients (660 observations) and showed a slight retardation at all ages between 6 and 13 yr. Development of pubic hair of 91 subjects analyzed cross-sectionally was definitely retarded when compared to adequate reference data. Evidence was given that factors secondary to the asthmatic syndrome are involved in the retardation of growth and development.

Adolescent↗
PubMedDate not supplied

Genetic analysis of growth curve parameters of body weight, height and head circumference.

A sample of 681 Israeli boys and girls, including 355 regular siblings (SB), 112 pairs of dizygotic (DZ) and 51 pairs of monozygotic (MZ) twins, was measured for body weight (WT), length (HT) and head circumference (HC) at birth and during the first year of life. The Count model with three parameters was chosen as the best fitting and most parsimonious function to approximate growth of the studied traits. The curves' fitting parameters were estimated for WT, HT and HC for each individual. To test the assumption that there is a genetic source influencing the pattern of growth for each trait, familial correlations between parameter estimates were computed for MZ, DZ twins and SB. In all instances MZ twins showed the highest within-pair correlation in parameters of growth (from 0.58 to 0.86), while SB showed the lowest ones (from 0.10 to 0.70). Variance decomposition analysis was used to simultaneously assess the contribution of gender, gestational age, additive genetic factor, common sibs and common intrauterine environmental effects on total variance of each studied trait separately. All these sources of variation were statistically significant, though the effect of intrauterine environment played a substantial role in early stages of child physical development, explaining from 18.1% to 70.6% of the total variance of the growth curve parameters. Further analyses are needed to clarify how this environment affects child growth and for how long.

Anthropometry↗
PubMedDate not supplied

Skeletal maturity at onset of the adolescent growth spurt and at peak velocity for growth in height: a threshold effect?

In 191 Polish boys of the Wroclaw Growth Study, the relationship between skeletal age and chronological age was examined at the onset of the adolescent growth spurt (take-off) and at peak velocity of height growth (PHV). It was found that, at PHV, skeletal age is markedly less variable than is chronological age, but at take-off no such reduction in variability is visible. The following interpretation of this finding is proposed. The onset of the spurt depends, ultimately, upon some maturational processes going on in the hypothalamus and shows little relationship with the advancement of the long bones at that time. Therefore, the spurt can begin at any level of skeletal maturity within the range normally observed at the chronological age at which it happens to begin in the individual. Peak height velocity, on the other hand, is reached when skeletal maturity is sufficiently advanced for testosterone to change its influence upon the bones from one which consists in stimulating cartilage growth to one which consists in stimulating epiphyseal fusion. Therefore, PHV is bound to occur within a range of skeletal maturity much more restricted than that within which take-off can occur.

Adolescent↗
PubMedDate not supplied

Age variations in sibling correlations for height, sitting height and weight.

Familial correlations for height, sitting height and weight have been studied in a sample of 1278 siblings for the Biscay province (Basque Country), aged 4+ to 24+ years. The data have been internally standardized according to sex and age of individuals. The degree of resemblance among sibling has been expressed by intraclass correlation coefficients. The total sample has been divided into three age categories: < 12 years, 12-15 years, and > or = 15 years, in order to examine the effect of age on sibling correlations. In general, changes with age have been observed: sibling correlations for height show a clear upward trend through the considered growth period, reaching a value of 0.48 from 15 years of age. Intra-correlations for weight show a slight downward trend with age. Sitting height shows a rather low correlation before 12 years of age, but equally high values in the other two ranges of age (0.48 and 0.47, respectively). This study confirms that the sibling resemblance for the analysed trait fluctuated through the growth period--height and sitting height showing similar patterns of variation with age--and that, after puberty, the degree of genetic determination is higher for bone measurements than for weight.

Adolescent↗
PubMedDate not supplied

Height velocity in Argentinean girls with Turner's syndrome.

Height velocities from birth to maturity derived from 1,049 height increments measured over intervals 0.85-1.15 years were studied from a sample of 187 patients with Turner's syndrome (TS) diagnosed on the basis of karyotype. Length of follow up in each girl varied from 1.0 to 11.0 years. Cross-sectional analysis showed a relatively stable growth velocity during pubertal ages. However, longitudinal analysis of individual growth curves showed the existence of a small growth spurt in 37 out of 47 girls with available data during pubertal years. Mean peak height velocity (PHV) of this spurt was 5.7 cm/year, SD 1.34; mean age at PHV was 12.66 years, SD 1.70. Selected percentiles were calculated using the least mean squares (LMS) method. Results show that a small growth spurt in girls with TS may be more frequent than previously thought.

Adolescent↗