Oncology Journals and the Internet: A Shared Resource.
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Journal Article↗
Biomedical subjects
M McKie
Publications and source records attributed to M McKie.
The Human PAX6 Mutation Database.
The Human PAX6 Mutation Database contains details of 94 mutations of the PAX6 gene. A Microsoft Access program is used by the Curator to store, update and search the database entries. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web. The PAX6 Mutation Database web page at URL http://www.hgu.mrc.ac.uk/Softdata/PAX6/ provides information about PAX6, as well as a fill-in form through which new mutations can be submitted to the Curator. A search facility allows remote users to query the database. A plain text format file of the data can be downloaded via the World Wide Web. The Curation program contains prior knowledge of the genetic code and of the PAX6 gene including cDNA sequence, location of intron/exon boundaries, and protein domains, so that the minimum of information need be provided by the submitter or Curator.
Computer Communication Networks↗
Head circumference and IQ of children with sex chromosome abnormalities.
At all ages XXX girls had significantly smaller head circumferences than control girls. Their IQ deficit was 24 points and IQ at age seven correlated significantly with head circumference at birth. In XXY boys, head circumference was significantly reduced at birth and up to nine years of age. The XXY boys' IQ deficit was 22 points, but IQ did not correlate with head circumference, as reductions in the two parameters did not always occur in tandem. The ratio of height-to-head circumference differed most in this group and could be useful in clinical recognition of this condition. XYY boys' head size did not differ from controls, despite their greater height, lower IQ scores indicating an adverse effect of an additional Y chromosome on brain development. The major factor affecting IQ outcome in the cohort was abnormal karyotype, with smaller effects from social class and head growth.
Adolescent↗
A collaborative trial of a semi-automatic system for slide preparation and screening in cervical cytopathology.
We report a test of an experimental system for machine-aided screening in cervical cytology, comprising the 'CYTOPRESS' semi-automatic slide preparation system (Nijmegen) and the 'CERVIFIP' interactive scanner (Edinburgh). Material from women attending clinics in Edinburgh and Nijmegen was stratified according to the severity of the conventional laboratory diagnosis and selected randomly within strata for inclusion in the test. Monolayered slides were prepared by CYTOPRESS from cervical scrape material remaining after preparation of conventional smears and scanned by CERVIFIP to determine the positions of the most 'suspicious' objects. The test was based on a set of 701 monolayers, divided equally between 'negatives' and 'abnormals' of various grades, of which 585 (83.4%) were passed automatically as adequate for machine-aided analysis. Approximately 15% of adequate slides were passed as 'negative' without operator interaction. In the remaining 85%, the suspicious objects were inspected by a human operator and a decision was then made either to refer each monolayer for conventional microscopic analysis, or to pass it as 'negative'. Where discrepancies occurred between the conventional laboratory and the system results, a consensus diagnosis was reached by taking into account all relevant information including clinical data. Of those with a consensus diagnosis of CIN 3 or worse an estimated 9.3 +/- 4.1% were passed by the system as 'negative'. Closer investigation of these false-negatives revealed that most, and perhaps all, were preventable by system improvements either planned or in progress. Corresponding false-negative rates for those graded 'CIN 1 or 2' and 'negative-early recall' were estimated, respectively as 18.9 +/- 5.3% and 22.9 +/- 3.1%. Of those with a 'negative-routine recall' consensus, 19.4 +/- 2.5% were referred for conventional microscopic analysis, a level well within acceptable limits for cost-effectiveness. Women whose initial laboratory smears were negative, but whose consensus diagnosis was 'negative-early recall' or CIN, are being investigated further to determine whether cervical abnormalities were in fact present. Over two-thirds of this group were referred by the machine-aided system for conventional microscopic analysis.
Diagnosis, Computer-Assisted↗
The cyclical nature of prepubertal growth.
We have examined the complete longitudinal height velocity (HV) data of 135 (80 male and 55 female) chromosomally normal children from the Edinburgh Longitudinal Growth Study who were measured six-monthly between age 3 years and the onset of the adolescent growth spurt. Individual HV curves appeared to consist of a regular series of accelerations and decelerations in a cyclical fashion. After excluding variations due to measurement error, and basing the analysis on the pattern of acceleration, we were able to identify a number of spurts of regular occurrence. The mid-childhood spurt was clearly identified at ages 7.0 in boys and 6.7 years in girls, and could be identified in all children except one girl. Other spurts were also apparent; a pre-school spurt at ages 4.8 and 4.6, a late-childhood spurt at ages 9.2 and 8.6, and in children with an average-to-late onset of puberty, a prepubertal spurt at ages 10.8 and 10.0 years in boys and girls respectively. Synchronization at peak HV was performed for each spurt as described by Shuttleworth (1937) for the adolescent growth spurt. The overall pattern of growth appeared to be cyclical with a mean peak interval of 2.2 years in boys and 2.1 years in girls, the cycles appearing to continue until interrupted by the onset of the adolescent growth spurt. Sitting height velocity (SHV) and leg length velocity (LLV) curves also showed a cyclical pattern, but each varied independently. The magnitude of the HV spurts in an individual was dependent on the synchrony between the phases of SHV and LLV spurts. The cyclical pattern of prepubertal growth with its rapid changes in HV should be taken into account when assessing the growth of any child and in the response to any treatment offered.
Adolescent↗
Growth during puberty in the XYY boy.
The availability of a cohort of eight unselected XYY boys identified by newborn cytogenetic screening has enabled their growth to be studied longitudinally in comparison with controls from the same population. While no difference had been found in dimensions at birth, increased height velocity in childhood resulted in the XYY boys being 7.6 cm taller at the onset of their pubertal growth spurt. Increased intensity of growth at puberty with a peak height velocity of 10.6 cm/year contributed to their adult height of 188.1 cm. XYY boys showed twice the male-female difference in height implying that genes on the Y chromosome exert a quantitative effect on the sexual dimorphism of growth.
Body Height↗
The growth of XXX females: population-based studies.
Longitudinal measurements of height, sitting height and leg length are compared between 11 XXX girls identified by cytogenetic screening, and 16 chromosomally normal controls from the same population using a nonparametric method. While height velocity did not differ between the two groups either during the pubertal or the mid-childhood spurts, leg length velocity was significantly increased during the mid-childhood spurt, between 4 and 9 years of age. A further contribution to the increased leg length came from the slower decline in leg length velocity at the end of the pubertal spurt. The possible mechanisms involved in these changes are discussed.
Adolescent↗