Phenylketonuria heterozygote detection in families with affected children.

Improved approaches to the problem of heterozygote detection for phenylketonuria (PKU) were developed in this study. The discrimination was based on 85 obligate heterozygotes and 45 controls who were neither pregnant nor on birth control medication. The best separation between hetrozygotes and normals was achieved with a linear discriminant function involving the logarithms of the serum concentrations of phenylalanine, tyrosine, and tryptophan.

Tissue localization of DDT and two PCB isomers (octa- and tetrachlorobiphenyl) in laying quails.

Whole-body autoradiography of DDT-G, 2,2′,4,5′-tetrachlorobiphenyl-G and 2,2′,3,3′,4,4′,5,6′-octachlorobiphenyl-C in laying quails indicated a strong deposition of radioactivity in the yolk of the growing follicles and the egg, confirming this to be a significant excretion route of lipophilic environmental pollutants in laying birds. A specific uptake of DDT and octachlorobiphenyl, but not of tetrachloro-biphenyl, was observed in the cortical cords of the adrenals. The octachlorobiphenyl was concentrated also in the ovarian stroma.

The Chicago variant of clinical galactosemia.

A new variant of clinical galactosemia with two hitherto unidentified alleles on the transferase locus in one family is described. This new clinical variant of transferase has 25% of normal control activity in blood and in skin fibroblasts, and the patient accumulates galactose-1-phosphate in blood on an unrestricted galactose diet. Using starch gel electrophoresis on the hemolysate of the family members, a fast-moving transferase with mobility in between those of the normal control and of the Duarte variant is identified.

Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.

This report describes and discusses the very rare occurrence of two heritable traits, the Saethre-Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt-losing type) in a female infant whose father presents the clinical manifestations of Saethre-Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.

Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.

The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance. Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pug nose), and mental retardation. The first case had all the metabolic abnormalities of pseudohypoparathyroidism; the second case had urinary cyclic adenosine-3',5'-monophosphate findings suggestive of pseudo-pseudohypoparathyroidism.

Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection.

Alpha-L-Iduronidase activity and beta-galactosidase activity were determined in mixed leukocyte preparations in 10 families in which the Hurler syndrome had occurred. Affected patients, heterozygotes, and normal subjects were clearly distinguished by alpha-L-iduronidase activity alone. Patients had 0-3%, obligate heterozygotes 19-60%, and normal subjects 83-121% of the mean normal activity.

Distribution of polychlorinated biphenyls: structural requirements for accumulation in the mouse bronchial mucosa.

Autoradiography showed that labelled polychlorinated biphenyls with chlorine in positions 2, 41, 5 and hydrogen in positions 3, 31, 6, 61 in the molecule are accumulated in the mouse bronchial mucosa. Further testing of this observation showed that 2, 21, 4, 51-tetrachlorbiphenyl-14C, but not biphenyl-14C, was taken up in the bronchi of mice.

[Distance and velocity standards for head circimference growth before and after term until 18 months--results from a longitudinal study (author's transl)].

Standards for head circumference growth (distance and velocity) from the perinatal period until the age of 18 months have been based on repeated measurements at short intervals (longitudinal) in 60 appropriate for gestational age (AGA) preterm infants of very low fetal age, and 68 full term infants. Moreover the growth of 32 small for gestational age (SGA) preterm infants has been evaluated. Before term the extrauterine head growth curve is similar to that of "intrauterine curves".

Distribution of 2,2(1),4,4(1),5,5(1)-hexachlorobiphenyl in mice and Chinese hamsters: dose dependent accumulation in the mouse bronchial mucosa.

The distribution of 2,2(1),4,4(1),5,5(1)-hexachlorobiphenyl-14C was studied in mice and Chinese Hamsters using whole body autoradiography and liquid scintillation counting. The mice exhibited a strong and persistent accumulation of radioactivity in the bronchial mucosa, and this accumulation was not fully developed until about 24 hours after an intravenous injection. The labelled substance passed to the fetuses of pregnant mice and was also concentrated in the fetal bronchi.

The distribution of 2,21,3,4,41,61, and 2,31, 4,41,51,6- hexachlorobiphenyl in mice studied by whole-body autoradiography.

The distribution of 14C-labelled hexachlorobiphenyl in male and pregnant female mice was studied by whole-body autoradiography and liquid scintillation counting. Shortly after an intravenous injection there was a strong uptake of polychlorinated biphenyl (PCB) in the corpora lutea, the adrenal cortex and the liver and radioactivity was retained fro a long time in these tissues. Even in the fetal adrenal cortex a considerable accumulation occurred.

An artifact in the gas chromatographic analysis of urinary organic acids from phenylketonuric children: decarboxylation of the phenylpyruvic acid during extraction.

Phenylpyruvic acid is converted at least partially to phenylacetic acid during the normal extraction procedure used to obtain urinary organic acid profiles of phenylketonuric children by gas chromatography. This decarboxylation reaction can be reduced or completely eliminated by forming oxime derivatives prior to extraction.