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Biomedical subjects

R E Stevenson

Publications and source records attributed to R E Stevenson.

At least 91 records · Page 5Linked to original sources
PubMed1983

Aspartylglucosaminuria in the United States.

Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in non-Finnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds.

Adolescent↗
PubMed1983

Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from the earlier literature are reviewed to delineate this condition. Clinical features including sparse, white hair, coarse facies, hepatosplenomegaly, profound inactivity, diarrhea, and anemia permit early diagnosis of this neurovisceral storage disease. Osseous stippling may be present and clear vacuoles may be demonstrated in lymphocytes and cultured fibroblasts. The course is one of relentless deterioration with death in early childhood. Specific diagnosis depends on demonstration of elevated free sialic acid in urine and cell lysates.

Adult↗
PubMed1982

Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance.

A family with six members affected with Caffey's disease (infantile cortical hyperostosis) demonstrates marked variability in expression and incomplete penetrance for this autosomal dominant condition. Twenty-five additional instances of familial Caffey's disease (with a total of 104 persons affected) are reviewed. From the 1940s to 1960s, sporadic cases of Caffey's disease occurred more commonly than did familial cases and probably represented environmentally produced phenocopies. Such isolated cases are rarely seen today. FAmilial Caffey's disease differs in several aspects from the sporadic type, having an earlier onset of disease (24% at birth), less frequent mandibular involvement, and more frequent lower-extremity involvement. Cases of Caffey's disease detected today should have appropriate radiologic testing of other family members to search for evidence of disease. Prompt recognition allows for conservative management of this usually self-limited condition.

Humans↗
PubMed1980

Hazards of oral anticoagulants during pregnancy.

Prenatal exposure to oral anticoagulants during pregnancy may result in defective fetal development or life-threatening hemorrhage. Fetal exposure during the first eight weeks of pregnancy may cause abnormal development of the facial structures, hypoplastic digits, strippled epiphyses, and mental retardation. Midtrimester exposure may result in optic atrophy, faulty brain growth, and developmental retardation. Third-trimester exposure may produce fetal anticoagulation, predisposing the infant to life-threatening hemorrhage in the perinatal period. Anticoagulation with heparin sodium does not provide a clearly safe alternative, since this therapy has been associated with excessive fetal loss.

Abnormalities, Drug-Induced↗
PubMed1980

Beta-galactosidase deficiency: studies of two patients with prolonged survival.

Two adults with beta-galactosidase deficiency were studied. Differences in a number of beta-galactosidase parameters (pH optima, heat denaturation, NaCl kinetics) were noted between the patients. Differences were also noted in beta-galactosidase electrophoretic mobilities and urinary oligosaccharides; however, there was no complementation in cell fusion studies. It is suggested that these two patients have different primary mutations at the beta-galactosidase locus which are probably structural in nature.

Adult↗
PubMed1980

A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.

A syndrome of multiple anomalies associated with growth failure and delayed development is described. The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, cleft palate, micrognathia, and abnormal pinnae. Other features include vertebral and costal anomalies, cardiac defects, and a peculiar malformation of the hands. At least five other cases of this condition, all occurring in males, may be found in medical reports. The finding of incomplete expression in three maternal relatives of our patient provides evidence for a genetic cause.

Abnormalities, Multiple↗
PubMed1978

Long-term storage of tissue samples for cell culture.

The establishment of cultured cell lines from skin biopsies stored at -196 degrees C for periods up to 1 year has been investigated. Attempts to initiate cell cultures from the frozen tissue samples were uniformly successful. There was no alteration in chromosome constitution, morphological appearance, or specific activities of lysosomal enzymes in cells cultured from the stored samples. This process can safeguard against failure of the initial tissue culture and provide an alternate means of storing viable cells when it is impossible or impractical to initiate a cell culture immediately.

Cell Division↗
PubMed1978

Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.

Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound beta-galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness and spondyloepiphyseal dysplasia, all lack visceromegaly and macular red spots. The diversity of phenotypic expression in these patients and others previously reported suggests the existence of composite genotypes (compound and double heterozygosity).

Adult↗
PubMed1977

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).

Adolescent↗
PubMed1976

Hepatic adenomata with type 1 glycogen storage disease.

In older patients with glucose-6-phosphatase deficiency adenomatous nodules develop within the liver parenchyma. Investigation of eight such patients, age 3 to 28 years, using radioisotopic scans, has demonstrated areas of depressed isotope uptake in the liver in all except the one preteenaged child. Three patients were further studied with hepatic angiograms and liver biopsy specimens. A diffuse nodularity, more widespread than apparent on isotopic scans, was demonstrated on angiograms. Although initial histologic study in each case showed adenomatous tissue without evidence of neoplasm, the development of hepatocellular carcinoma in one of our patients and in others from the literature suggests that the nodules may be premalignant.

Adolescent↗
PubMed1976

Development of gluconeogenic enzymes in fetal sheep liver and kidney.

In the sheep, the system of enzymes necessary for conversion of nonhexose substrates to glucose becomes active during late fetal life. Glucose-6-phosphatase and fructose-1,6-diphosphatase, two of the four key gluconeogenic enzymes, appear in significant amounts between 100 and 120 days gestation. Phosphoenolpyruvate carboxykinase activity is comparable to mature animals as early as 45 days gestation. Two aminotransferases, necessary to allow amino acid access to the gluconeogenic pathway, likewise have substantial activity as early as 45 days gestation. Hence, the surge of glucose-6-phosphatase and fructose-1,6-diphosphatase at 100-120 days gestation makes possible the endogenous production of new glucose by fetal sheep at a time when the amount of glucose transferred from the maternal circulation is less than the total aerobic substrate utilized by the fetus. Both renal cortex and liver have similar developmental patterns for the gluconeogenic enzymes, although renal cortex generally shows greater activity than liver. This observation holds true for tissue from both fetal and mature animals.

Animals↗
PubMed1976

Myophosphorylase deficiency (McArdle's disease): report of a family.

The clinical and biochemical findings are presented of two brothers suffering from McArdle's Disease (Myophosphorylase Deficiency). Tissue enzyme estimations and lactate levels were done in affected and non-affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.

Adult↗