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Biomedical subjects

J G Mortimer

Publications and source records attributed to J G Mortimer.

10 recordsLinked to original sources
PubMed1989

A child with Refsum's disease: successful treatment with diet and plasma exchange.

A child with Refsum's disease presented with cardiac failure, marked muscle wasting, weakness and inco-ordination. Management with multiple plasma exchanges and dietary restriction of phytanic acid intake has reversed the disabling features of the disease, although levels still remain higher than target values. Low phytanic acid intake is being achieved by restriction of total fat to 10 to 12 g/day, while allowing free amounts of fruit and green vegetables.

Child↗
PubMed1988

Sitosterolaemia and heterozygous familial hypercholesterolaemia in a three year old girl: case report.

A case of a 3 1/2 year old female child is described in which symptomless cutaneous xanthomatosis led to the diagnosis of sitosterolaemia in the presence of a defect of low-density lipoprotein uptake by cultured fibroblasts. The condition responded to treatment by cholestyramine with normalisation of the blood lipid levels. Normal growth and development continued for three years of observation.

Child, Preschool↗
PubMed1985

Infantile hypertrophic pyloric stenosis: a Dunedin review.

Patients who had undergone a Ramstedt pyloromyotomy for infantile hypertrophic pyloric stenosis in Dunedin over a 10 year period to June 1984 were reviewed. Forty-two cases were recorded. More congenital anomalies than expected, a declining rate of wound complications and a high rate of a positive family history were found. The history is reviewed, the data presented and the results discussed.

Female↗
PubMed1980

A further report on a kindred with cases of 4p trisomy and monosomy.

An extended study on a previously described family, in which a rcp(4;12) (p14;p13) translocation is segregating, is reported. 2 further individuals with 4p trisomy are described. The risk to translocation carriers of having liveborn offspring with either 4p trisomy or monosomy is calculated to be 25%.

Adult↗
PubMed1979

A screening programme for congenital hypothyroidism: preliminary results.

Highly sensitive and precise radioimmunoassays for thyroxine (T4) and thyrotropin (TSH) in dried blood spots on filter paper cards have been developed and are used to screen newborn infants for congenital hypothyroidism. Blood spot TSH levels are measured in samples for which blood spot T4 levels fall in the lower 10 to 15 percent. There was a low recall rate of approximately one infant in every 550 screened. During a 17-month period 5225 infants have been screened for congenital hypothyroidism and two cretins have been detected. Due to very early diagnosis, both infants were commenced on T4 replacement therapy before the age of three weeks.

Congenital Hypothyroidism↗
PubMed1978

Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+).

Chromosome studies on a newborn infant with the clinical features of 4p-syndrome revealed a 46,XY,4p-karyotype with deletion of bands distal to 4p14. Investigation of the family revealed normal chromosomes in the mother and a balanced translocation rcp(4;12) (p14;p13) in the father, the paternal grandfather and an uncle. A severely retarded and malformed aunt is a partial trismoy for the short arms of chromosome 4, with the unbalanced karyotype 45,XX,12p+. It appears that monosomy of bands 4p15 and 4p16 leads to the full clinical features of 4p-syndrome, while trisomy of this region causes disabilities consistent with the rather more variable 4p trisomy syndrome. From currently reported cases, a summary is presented of the results of pregnancies of both male and female translocation carriers.

Abnormalities, Multiple↗
PubMed1977

Child health revisited.

Much discussion has taken place over the recently published mortality statistics for infants and young children. These statistics are critically examined and conclusions reached. Suggestions with regard to the improving of Child Health Services are made.

Accidents↗