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Biomedical subjects

J M Tuerck

Publications and source records attributed to J M Tuerck.

6 recordsLinked to original sources

A new amino acid mixture permits new approaches to the treatment of phenylketonuria.

A new amino acid mixture for incorporation into medical foods for the treatment of hyperphenylalaninemia has been tested in a regular clinic. The mix is designed to be as unobtrusive as possible, consistent with good nutrition. After more than 1 year of trial as a beverage, we have shown that it is safe and well tolerated but that plasma phenylalanine is no better controlled than with some other products. The mix can be incorporated into a large number of different foods without affecting the taste. Occult monitoring of the quantity of medical foods purchased compared with the amounts reported to be consumed in diet histories provides an excellent way to monitor dietary compliance.

Amino Acids↗

The practitioner's role in newborn screening.

In this article the practitioner's role in newborn screening were summarized and guidelines to assist in their execution were provided. The authors summarized the tests that are currently used in North America and provided a short discussion of current and future issues in this area. Newborn screening is no longer a simple procedure. The lack of universal standards, tests, or legislation, and the increasingly complex choices and technologies available for newborn screening make uniform recommendations for practitioners difficult. It has become necessary to understand the basis and rationale of the tests as they relate to individual infants in order to provide optimal care.

Follow-Up Studies↗

Verbal dyspraxia in treated galactosemia.

Galactosemia is an inborn error of metabolism that causes life-threatening illness a few days after galactose-containing milk is fed to a newborn. Early treatment with a strict lactose-free diet results in rapid improvement, and, until recently, it was thought that the long-term prognosis in such infants was usually good. The speech characteristics of 24 patients treated for galactosemia were examined. Fifty-four percent had the specific speech disorder, verbal dyspraxia. This finding was not related to age at diagnosis, severity of symptoms in the newborn period, or to biochemical control. There may be, however, a relation between dyspraxia and diminished IQ scores observed in the group of patients with dyspraxia judged as "severe." The findings indicate the association of a specific and unusual speech defect with a specific and rare metabolic disorder.

Adolescent↗

Pacific northwest regional newborn screening: a paradigm of prevention.

We describe the use and early results of the Oregon Public Health Laboratory computer to monitor hospital and practitioner compliance with state newborn screening recommendations. The system tracks five major categories of screening practice in which 18 types of errors affecting screening test quality have been identified. Results show that 47.3% of newborn screening specimens were submitted incorrectly according to current state recommendations. The program will be used to improve screening practices and to evaluate educational efforts.

Diagnostic Errors↗

Computerized surveillance of errors in newborn screening practice.

We describe the use and early results of the Oregon Public Health Laboratory computer to monitor hospital and practitioner compliance with state newborn screening recommendations. The system tracks five major categories of screening practice in which 21 types of errors affecting screening test quality have been identified. Our initial pilot study examined computer generated data for 23,717 specimens submitted by 116 Oregon birthing facilities over a four-month period. Results show that 58.3 per cent of newborn screening specimens were submitted incorrectly according to current state recommendations.

Diagnostic Errors↗