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Biomedical subjects

C O Carter

Publications and source records attributed to C O Carter.

At least 55 records · Page 3Linked to original sources
PubMed1976

Use of creatine kinase for detecting severe X-linked muscular dystrophy carriers.

Women thought to be at risk of being carriers of Duchenne muscular dystrophy were given "odds" against their having an affected child. These were calcuated from a combination of the genetic risk from the family history and an estimation of the biochemical risk from measuring the serum creatine kinase concentration. The women were told the actual risk estimate and it was put into perspective for them as a high, medium, or low risk. Of 25 women at high risk six have had children, all girls; the two in the medium-risk group have had no children; and the 46 women at low risk have had 19 boys and 25 girls. None of the boys has the disease. With detailed counselling most potential carriers of this disease reach decisions in child bearing that are in line with their degree of risk.

Creatine Kinase↗
PubMed1976

Spinal dysraphism: genetic relation to neural tube malformations.

The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformation--spina bifida cystica and anencephaly. The index patients had all had a tethered conus medullaris and one or more of a variety of anomalies of the spinal cord, vertebrae, or skin overlying the vertebral column. Of 364 sibs of index patients, 9 had an encephaly and 6 spina bifida cystica, a pro-proportion of 4.12%. This approximates to the proportion of sibs affected by neural tube malformations in the London region when the index patients themselves have spina bifida or anencephaly. It is, therefore, appropriate that the mothers of children with spinal dysraphism should be offered prenatal screening for neural tube malformations.

Adult↗
PubMed1974

Polycystic disease presenting in childhood.

Both the adult and the childhood type of polycystic disease of liver and kidney may present in childhood, but they may be clearly distinguished histologically. The childhood type appears to involve a similar disorder of kidney and liver and is always recessive. It may be subdivided into four subtypes of increasing severity-perinatal, neonatal, infantile and juvenile-which breed true within families. The first causes death in the neonatal period, while the last may permit survival into adult life.

Adolescent↗