Search PubMed⌕ Search

Biomedical subjects

C R Scriver

Publications and source records attributed to C R Scriver.

At least 271 records · Page 15Linked to original sources
PubMed1973

The frequency of genetic disease and congenital malformation among patients in a pediatric hospital.

A sample of 12,801 admissions to a pediatric hospital was surveyed in 1969-70 to determine the prevalence of disease which could be classified as "genetic" in origin or related to "congenital malformation"."Genetic" admissions accounted for 11.1% of the total while 18.5% were for congenital malformations; about 2% (unknown group) were probably genetic. Therefore about one third of all admissions represent the effect of abnormal gene-environment interrelations at some point in the development or life of the patient.The "genetic" patient is admitted more often to a medical service while the patient with congenital malformation usually goes to a surgical service; the former stays 7.3 days and the latter 8.6 days. A disproportionate number of patients staying longer than 10 days were found in the group with congenital malformations. Seventy percent of the patients with multiple admissions (3.2% of all admissions) have genetic illness or congenital malformation.

Age Factors↗
PubMed1972

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

Recurrent vomiting without apparent cause should alert the physician to the possibility of a disorder of ammonia metabolism. Crystalluria in a three-month-old male infant with a history of intermittent vomiting since birth and incipient coma led to the discovery of orotic aciduria. A diagnosis of ornithine carbamyl transferase (OCT) deficiency was derived from study of the liver after the infant had died; residual activity was about 5% of normal. Ammonia intoxication was the presumed cause of death. Overproduction of orotic acid and other pyrimidines reflects the deficiency of OCT. The possibility of genetic heterogeneity for the hereditary trait under observation must be considered because it may influence prognosis and counselling.

Ammonia↗
PubMed1972

Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.

Mutant hemizygotes with X-linked hypophosphatemia lack a parathyroid hormone-sensitive component of inorganic phosphate transport in kidney; female heterozygotes retain a variable proportion of this type of transport. The residual mechanism for reabsorption in affected males allows inorganic phosphate efflux from the kidney to urine so that net "secretion" is sometimes observed; the latter is directly proportional to the serum concentration of inorganic phosphate. Calcium acts on the kidney tubule to enhance net reabsorption by this component of inorganic phosphate transport.

Adolescent↗