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Biomedical subjects

M R Creasy

Publications and source records attributed to M R Creasy.

13 recordsLinked to original sources

Premature chromosome condensation in childhood acute lymphoblastic leukaemia: correlation of proliferative potential index in blood and marrow.

The proliferative potential index (PPI), which is the proportion of all GI cells which are in late GI, has been shown to reflect disease state in patients with acute leukaemia. We have determined PPI in paired blood and marrow samples from children with acute lymphoblastic leukaemia (ALL) at different stages of the disease, and found a close correlation between blood and marrow PPI irrespective of disease stage. Therefore blood PPI can replace marrow PPI for monitoring disease control in ALL.

Adolescent

Are double translocations double trouble?

Double translocation heterozygotes are rare, but need not necessarily pose more of a counselling problem than single reciprocal translocation heterozygotes. Nine cases of double translocation are presented, together with a review of the few reports published to date. An attempt is made to provide simple counselling guidelines in the assessment of the risk of producing a liveborn abnormal child. This is not based on theoretical considerations of segregation patterns, but extrapolated from what is known empirically about the viable segregation patterns in carriers of single reciprocal translocations. It assumes that there is no interference with the independent assortment of the two separate exchanges, unless a common participating chromosome is involved. The possibility of an interchromosomal effect has not been taken into consideration.

Congenital Abnormalities

A cytogenetic study of human spontaneous abortions using banding techniques.

The karyotypes of 941 singleton and 42 twin abortuses and 4 cystic placentae were determined. 30.5% of the singletons were chromosomally abnormal; 49.8% of these were trisomic, 23.7% X-monosomics and 17.4% polyploid. 143 trisomies were identified by banding; over a third had an extra chromosome 16, more than 10% an extra 21 or 22 and about 5% an extra 2, 18 or 15. Examples of trisomy 3, 4, 8, 9, 10, 13, 14 and 20 were also encountered. Using the data from two other published studies, the prevalence of different trisomies was estimated and an attempt was made to relate the karyotype of the conceptus to its subsequent development.

Abortion, Spontaneous

Congenital malformations of the central nervous system in spontaneous abortions.

A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn.

Abortion, Spontaneous

Alpha-fetoprotein levels in amniotic fluids from spontaneous abortions.

Alpha-fetoprotein (A.F.P.) levels in the amniotic fluid were determined in 54 cases of spontaneous abortion in which the amniotic sac remained intact. These levels were correlated with the morphological and cytogenetic status of the fetus. Of the 29 fetuses with no apparent abnormality 22 had A.F.P. levels below 50 mug/ml, while 10 of the 11 fetuses with severe neural tube defects had raised levels (50-305 mu/ml). Seventeen fetuses had chromosome anomalies of various types. Three out of four which were 45, X had considerably raised A.F.P. levels (78-210 mug/ml) but fetuses with other chromosome constitutions and no neural tube defects had levels no higher than 32 mug/ml.

Abortion, Spontaneous