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Biomedical subjects

S Laing

Publications and source records attributed to S Laing.

At least 19 recordsLinked to original sources
PubMed2001

Pre-eclampsia: a predisposing factor for neonatal venous sinus thrombosis?

Neonatal venous sinus thrombosis is a well-recognized, but infrequently diagnosed, cause of neonatal encephalopathy. Previous reports have tended to omit reference to the importance of maternal factors in predisposing the infant to this condition. This report, in which eight patients with neonatal venous sinus thrombosis are presented, will reveal a strong association between pre-eclampsia, prothrombotic disorders, and neonatal venous sinus thrombosis. Contrary to previously published reports, there is a high likelihood of neurodevelopmental residua after this condition.

Adult↗
PubMed1996

Informed choice in fragile X syndrome and its effects on prevalence.

We present the effect of case finding, cascade testing, and counselling for fragile X syndrome in a population of 6.5 million over a decade. Carrier females made informed choices that resulted in a 10-fold decrease in the prevalence of affected males in their offspring.

Choice Behavior↗
PubMed1992

Population screening for fragile X.

A screening programme to detect fragile X syndrome has been operating in New South Wales, Australia, since 1984. The aim of this programme is to find previously unidentified individuals with the syndrome so that their extended families can be properly informed of the risks before making decisions about childbearing. 14,225 individuals attending adult and child facilities for the intellectually handicapped have been screened, of whom 8172 have been offered testing for the fragile X syndrome with a 79% uptake of the service. 253 probands were found, and in the extended families 818 females at 25-100% risk of being carriers were interviewed and counselled. Continuing contact was maintained and prenatal diagnosis was offered. The effect of the programme was assessed in a subgroup of 90 individuals, most of whom were appreciative of the service and felt that they had been adequately informed. The influence of knowing the diagnosis and its genetic implications were also assessed, the main consequences being a 26% reduction in births and a 61% uptake of prenatal diagnosis. Improved techniques for diagnosis of fragile X have benefited the families identified and counselled, suggesting that systematic screening for fragile X should be an essential component of community genetic services.

Adolescent↗
PubMed1992

The reproducibility of colour-coded duplex scanning in measuring arterial wall dimensions.

Intimal hyperplasia continues to be a major problem following vascular surgery but experimental evidence suggests that it can be reduced pharmacologically. For clinical studies an accurate, reproducible and non-invasive image of the intima and lumen is required. We have assessed the value of the Acuson 128 Colour Duplex for such studies. Ten patients had their common femoral arteries scanned at a fixed point by two experienced observers on two separate occasions. External vessel diameter, luminal diameter and internal diameter (i.e. the diameter within the internal elastic lamina) were measured in both longitudinal and cross-sectional views. Cross-sectional area and degree of stenosis were all measured and all parameters expressed as limits of agreement. The mean external diameter of the common femoral arteries was 10.5 +/- 1.6 mm. Measurements in the longitudinal view were highly reproducible with limits of agreement ranging from -0.67 - +0.25 mm (internal diameter) to -1.49 - +1.31 mm (luminal diameter). In order to detect a meaningful change in longitudinal external diameter a real difference of 0.86 mm is required representing a change of less than 10%. Cross-sectional diameter measurements were similarly reproducible (-0.73 - +0.47 mm to -1.97 - +1.79 mm). However, cross-sectional area measurements had a wide variation so that the error in degree of stenosis was -25.4 - +30.2%. Thus, duplex ultrasound reproducibly images the layers of the arterial wall. Prospective studies of intimal hyperplasia are feasible but must be based on longitudinal and cross-sectional diameters rather than cross-sectional areas.

Aged↗
PubMed1986

Preventive screening for the fragile X syndrome.

In an Australian population of 1.2 million, we screened 1977 intellectually handicapped persons, who were identified through the public schools and sheltered workshops, for the X-linked semidominant fragile X syndrome. We excluded 527 because they had another known diagnosis. The remaining 1450 were offered chromosomal analysis. Of the 1117 who consented (77 percent), an additional 196 were excluded, and among the 921 who were tested cytogenetically, 40 probands were found. Prevalence rates for persons with an intellectual handicap and the fragile X syndrome in the public school population were 1:2610 for males and 1:4221 for females. Family studies identified 84 women who were either obligate carriers or at high risk of being carriers, who were under the age of 35 and had no children. These women were given genetic counseling, and the availability of antenatal diagnosis was explained to them. If each of these 84 women had two children, 27 of their sons would have an intellectual handicap. We recommend cytogenetic screening for the fragile X syndrome in all currently identified intellectually handicapped people, followed by routine screening of children newly identified as intellectually handicapped in the school system.

Australia↗
PubMed1975

Temperature-sensitive mutants of foot-and-mouth disease virus: the isolation of mutants and observations on their properties and genetic recombination.

A number of temperature-sensitive mutants were isolated from two strains of foot-and-mouth disease virus (FMDV). Various properties of the mutants were examined including comparative growth curves at permissive and restrictive temperatures, cut-off temperatures, thermal lability and pH sensitivity. Recombination was observed between various pairs of mutants of FMDV strain Pacheco. It occurred early in the growth cycle and the proportion of recombinants remained constant thereafter. Maximum recombination was achieved if the input multiplicity of each virus was 6 p.f.u./cell or greater, provided the ratio of the input multiplicities did not vary by more than a factor of two. Day-to-day variations could be substantially reduced by normalizing recombination frequencies in terms of a standard cross. The results suggested that genetic mapping was possible with two-or three-factor crosses.

Animals↗
PubMedDate not supplied

Prenatal diagnosis of the fragile X--the Australasian experience.

Identification of increasing numbers of females heterozygous for fragile X linked mental retardation together with improved genetic counselling is creating a growing demand for prenatal diagnosis of fra(X). However, present cytogenetic techniques are somewhat unreliable and our collaborative approach has endeavoured to improve quality of cell culture systems and the sensitivity of fra(X) detection. Since 1985 we have exchanged cell cultures between our laboratories for verification of diagnostic results and comparison of induction techniques and have benefitted from larger numbers of cells scored for fra(X). Our 50 cases represent almost all of such studies undertaken in Australasia (Australia and New Zealand). Ten cases were unequivocally fra(X) positive; there was discrepancy between laboratories in 4 cases and one false-negative case. We propose a protocol to enhance fra(X) detection and conclude that, provided care is exercised, couples at risk of a fra(X) pregnancy can benefit from prenatal cytogenetic diagnosis.

Amniocentesis↗
PubMedDate not supplied

Screening for the fragile X: how many cells should we analyse?

Since nationwide screening for the fragile X would involve the analysis of thousands of individuals within a short period of time, the number of cells, N, which should be analysed is of fundamental importance. When selecting N, the crucial parameter should be the degree of expression of the fragile site in the affected individuals in the population to be screened. However, this degree of expression is not known, and for routine diagnostic purposes, N = 100 has been accepted by many centers. By taking data from two large series of affected males/females with a known degree of expression (one series from New South Wales, one from Belgium), we have estimated the fraction of affected males/females which would have been missed if the two series were rescreened with the analysis of less than 100 cells. Assuming that the degree of expression within these two series is similar to the degree of expression in all affected individuals within the two populations, the results indicate that a reduction of N in a screening program, say from 100 to 50 cells, would reduce the detection rate between 1 and 5%. The reduction would be greater in females than in males, and greater in the Belgian than in the Australian population.

Cell Count↗
PubMedDate not supplied

Is there a fragile(X) negative Martin-Bell syndrome?

During the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin-Bell syndrome. The literature and 4 families previously thought to have the fra(X) negative Martin-Bell syndrome were also reviewed. We were unable to make a concrete diagnosis of the fra(X) negative Martin-Bell syndrome.

Adult↗
PubMedDate not supplied

Investigation of the twinning rate in families with the fragile X syndrome.

An excess of twins in families with the Martin-Bell or fra(X) syndrome was noted previously in one family study [Fryns, 1986]. We tried to confirm this observation in a second large sample of families from a different population. We calculated the number of twin births among the total number of live births of known obligate carriers found in fra(X) families ascertained in New South Wales, Australia. We only included births of known sex and excluded triplets. There were 5 male pairs, 3 female pairs and 9 unlike sex pairs of twins born among 752 live births. Thus the twining rate was 1/44 per live birth. We compared this rate to that found in two different types of individuals: 1) the rate of 1/96 which was obtained from the 1985 vital statistics for New South Wales, and 2) the rate 1/75 obtained from a sample of live births of obligate carriers with hemophilia A. The increase in twinning among heterozygotes with the fra(X) was highly significant when compared to the census data (p less than 0.001). However, it was not significantly different from that in the hemophilia data (p less than 0.05) which were collected in the same way as in the fra(X) families.

Epidemiologic Methods↗
PubMedDate not supplied

Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women.

Two reports have suggested that over 50% of the offspring of obligate carrier women receive the mutation for the fra(X) or the Martin-Bell syndrome [Webb et al, 1986; Fryns, 1984]. Such a segregation distortion is difficult to assess for the fra(X) syndrome because of incomplete penetrance, variable expression and probable ascertainment biases. We have attempted to evaluate this possible segregation distortion in daughters of obligate carriers in a large sample of sibships ascertained in a survey of New South Wales, Australia. We used two definitions of expression: 1) presence of fra(X) positive cells if daughters were tested cytogenetically, and 2) mental impairment if daughters were not tested cytogenetically. The segregation frequency was estimated in different types of sibships of obligate carriers based on the way they were ascertained. This was done in order to have an internal check on possible ascertainment biases. Among the 189 cytogenetically tested daughters, 81 were fra(X) positive. Among the 97 untested daughters, 24 were mentally impaired in some way. Therefore, the segregation frequency as defined by fra(X) expression and/or mental impairment was 37%. Thus, no evidence was detected for segregation distortion. These data were significantly different than those collected by Webb et al [1986] and scored by the same method as the present data set.

Female↗
PubMedDate not supplied

Clinical screening score for the fragile X (Martin-Bell) syndrome.

A clinical score based on the manifestations of the fragile(X) syndrome has been formulated and applied to all individuals included in a fragile(X) case finding program in New South Wales. The total score can vary from 0 to 10. Individuals are scored 0, 1, or 2 in each of 5 categories considered indicative of the fragile(X) phenotype: family history of intellectual handicap, face length, ear configuration, personality, and body habitus. In a study of 1,206 individuals where the clinical scores were prospective (i.e., they had been given before the cytogenetic results were known) the percentage of those with the fragile(X) increased from 0.6% of those with scores of 4 or less to 14.6% with scores 5-7 and to 67% of those with scores 8-10. We have found the score simple to use in the circumstances where screening takes place (sheltered workshops and schools) and have reduced the number of individuals tested cytogenetically by 45%.

Cross-Sectional Studies↗
PubMedDate not supplied

Mortality in the fragile X syndrome: preliminary data.

Mortality was studied among 348 males and 433 females who had or who carried the gene for the fragile X syndrome. The average age of death was about 12 years lower than in the general population for both men and women but this was likely a bias of ascertainment. The commonest causes of death were cardiovascular, cerebrovascular and malignant disease similar to those in the general population. No evidence for any specific disease susceptibility was found in this preliminary study.

Adolescent↗