Biomedical subjects

K Jew

Publications and source records attributed to K Jew.

4 recordsLinked to original sources

PubMed1988

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.

The expression and activity of phenylalanine hydroxylase was studied in the liver of a fetus aborted after prenatal diagnosis of phenylketonuria. No phenylalanine hydroxylase enzymatic activity or immunoreactive protein was detectable in the PKU liver specimen, though both enzymatic activity and immunoreactive protein were detectable in control specimens of similar gestational age. Phenylalanine hydroxylase messenger RNA of normal size was present in the PKU fetal liver at normal abundance. These results confirm the genetic diagnosis of PKU in this fetus and indicate that the mutations in this fetus affect translation or stability of the phenylalanine hydroxylase protein.

Abortion, Induced↗

PubMed1986

Maternal phenylketonuria.

Pregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 mumol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 and 1200 mumol/L also have an increased risk to their offspring. To study this problem further, the National Institute of Child Health and Human Development has established a collaborative study for 7 years to elucidate a proper treatment programme for these women.

Adult↗

PubMed1984

Meningoencephalitis complicated by pituitary insufficiency and a spontaneously resolving suprasellar mass.

A 53-year-old woman presented with acute meningoencephalitis associated with anterior and posterior pituitary insufficiency. A computed axial tomogram (CT) of the head revealed a suprasellar mass. The meningoencephalitis, presumably of bacterial origin, resolved after antibiotic therapy and, on a repeat CT, the suprasellar mass had disappeared. Five months after the initial illness, the patient's diabetes insipidus had resolved, anterior pituitary function had improved, and there was no sign of the suprasellar mass. The presence of a suprasellar mass in conjunction with acute meningoencephalitis and anterior and posterior pituitary insufficiency should raise the suspicion that the mass is not neoplastic and may be infectious or inflammatory in origin.

Diabetes Insipidus↗

PubMed1980

Reproductive counselling for adolescent females with phenylketonuria.

It is our goal to provide young adolescents with the information needed to make an informed choice, and a support system for them and their families, in whatever they choose. 1. Sterilization is not advocated. 2. Pregnancy is not advocated. 3. Reliable birth control methods are encouraged. 4. Organized reproductive counseling is essential using concrete problem solving--diagram, taste tests, etc. 5. Diet trial before or during pregnancy requires an informed understanding of the responsibilities of parenthood.

Adolescent↗