Biomedical subjects

S A Robb

Publications and source records attributed to S A Robb.

3 recordsLinked to original sources

PubMed1992

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

Eleven patients with Angelman syndrome (AS) and their parents from 5 families have been studied with high resolution chromosome analysis and molecular probes from region 15q11-13 in an attempt to elucidate the mode of inheritance in familial AS. No deletions were detected. All families were informative with a combination of different short arm cytogenetic markers. All sets of sibs inherited the same maternal chromosome 15, but in 3 families sibs inherited different paternal 15s. Analysis of 6 polymorphic DNA markers supported the conclusion that AS sibs inherit the same maternal 15, but often different paternal 15s. These data make autosomal recessive inheritance at a 15q11-13 locus very unlikely and support the hypothesis that familial AS is due to maternal transmission of a mutation within 15q11-13.

Angelman Syndrome↗

PubMed1992

Does computed tomography have a role in the evaluation of complicated acute bacterial meningitis in childhood?

The authors examined the records of 30 children with bacterial meningitis to review the role of computed tomography (CT) of the brain in acute management of the disease. CT was normal for 10 patients, six of whom had clinical evidence of raised ICP. CT identified an underlying surgical abnormality in two patients with progressive focal neurological signs. One patient had unsuspected gross hydrocephalus diagnosed by CT, which required neurosurgery. This study shows that the management of bacterial meningitis is influenced by CT in only a minority of cases; for patients with clinical signs of raised ICP, it was found to be insensitive in confirming the clinical diagnosis and establishing an underlying cause. However, CT remains valuable in the management of children with progressive neurological signs for whom neurosurgical intervention may be necessary.

Acute Disease↗

PubMed1976

Placental glycogen.

The quantity and distribution of glycogen has been studied in 86 placentae from the last trimester of pregnancy and 8 of 8 to 16 weeks gestational age. In the first trimester glycogen concentrations were high, between 4-5 to 6-5 mg/g of blood-free tissue, but from about 12 weeks to term the concentrations were within a narrow range around 1-5 mg/g. The level did not deviate appreciably from normal in a range of clinical conditions: diabetes, intrauterine growth retardation, pre-eclampsia or acute fetal distress, and was unaffected by the length of labour and whether or not the mother had been given an infusion of dextrose. Nor was it affected by a wide range of glucose concentrations in the maternal and fetal plasma and in the placental tissue itself or by insulin concentrations in either circulation. After the first few weeks of pregnancy glycogen in the placenta was shown to be restricted to the vicinity of major fetal blood vessels. Here it may be presumed to act as an energy reserve for vasomotor activity. All the evidence suggests that any importance placental glycogen may have is likely to be local, in relation to the placental vessels; a more general role, as an emergency energy source for the fetus, seems unlikely.

Birth Weight↗