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Biomedical subjects

G Hug

Publications and source records attributed to G Hug.

At least 55 records · Page 3Linked to original sources
PubMed1981

Elevated serum 1,25 dihydroxyvitamin D concentrations in rickets of very low-birth-weight infants.

Elevated 1,25 dihydroxyvitamin D concentrations were found in five VLBW infants who developed rickets at two to three months postnatal age or term postconceptual age; 25 hydroxyvitamin D concentrations were low. Bone mineralization was found to be extremely low as measured by infant-adapted direct photon absorptiometry. After treatment with a formula supplemented with additional Ca and P, there was a rapid improvement in bone mineralization with a concomitant decrease of 1,25(OH)2D to normal adult values, whereas 250HD values increased and parathyroid hormone values decreased. In the VLBW infants studied, we suggest that rickets may be caused by Ca and P deficiency rather than by a deficiency of vitamin D metabolism.

Calcitriol↗
PubMed1981

Reye's syndrome simulacra in liver of mice after treatment with chemical agents and encephalomyocarditis virus.

In children with Reye's syndrome, liver specimens exhibit the following characteristics: mitochondrial dysfiguration, fatty infiltration, decreased activity of carbamyl phosphate synthetase and of ornithine transcarbamylase, histochemically reduced activity of succinic dehydrogenase and cytochrome oxidase, and depletion of glycogen. We intended to create an animal model for Reye's syndrome by treating mice with encephalomyocarditis virus, and/or salicylate, fructose, Atlox, butylated hydroxytoluene, pentachlorophenol, and an equal mixture of butylated hydroxytoluene and monosodium stearate. Liver specimens were then examined for the listed characteristics as well as for the activity of argininosuccinic lyase, arginase, phosphorylase, and glucose-6-phosphatase. Results of interest in regard to the experimental intention were obtained in livers of mice treated with virus and Atlox (A) or virus and butylated hydroxytoluene (B). In these specimens, we found a significant reduction (p less than 0.05)--except for ornithine transcarbamylase (A)--to the following levels (in percentage of normal mean): carbamyl phosphate synthetase (A, 79 per cent; B, 57 per cent); ornithine transcarbamylase (A, 91 per cent; B, 75 per cent); glycogen (A, 26 per cent; B, 37 per cent). Simultaneous morphologic analysis of these liver specimens indicated mitochondrial dysfiguration, absence of dense granules, fatty infiltration, and normal activity of succinic dehydrogenase and cytochrome oxidase. The induction of Reye's syndrome-like features in mouse liver may be useful for the study of disease mechanisms and therapy.

Animals↗
PubMed1981

Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency.

A child with carbamyl phosphate synthetase deficiency was studied. During attempts at dietary control, a peculiar rash and cessation of growth were noted concomitant with a very low serum arginine level. A prospective study was designed so that the only variable would be the addition of 400 mg of arginine to his diet. During the two-week period without arginine, the rash and growth failure recurred and paralleled a drop in the serum arginine level from 0.048 to 0.034 nmol/mL. Then with the addition of arginine, his rash dramatically cleared and he resumed normal growth. Later, it became necessary to raise his arginine intake to 800 mg/day to maintain continued growth. These data support the concept that arginine becomes an "essential" amino acid in persons with urea cycle defects, which may partially explain the extremely variable clinical manifestations and courses seen in these patients.

Amino Acids, Essential↗
PubMed1980

[Prenatal diagnosis of alpha-1-antitrypsin phenotype. Case record and prognosis in severe alpha-antitrypsin deficiency Pi ZZ (author's transl)].

A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocusing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possible to rule out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.

Female↗
PubMed1980

PiZpratt: a new alpha 1-antitrypsin allele in an American Negro family.

A rare alpha 1-antitrypsin phenotype was detected in serum of individuals belonging to three generations of an American Negro family. Following the recommended guidelines of nomenclature, we labeled the new Pi type Zpratt; the corresponding allele is PiZpratt. Alpha 1-antitrypsin concentration and trypsin inhibitory capacity are normal in MZpratt serum.

Adult↗
PubMed1980

Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.

The authors studied a 53 year old woman and her 22 year old son with episodes of paroxysmal muscle cramps and dark urines lasting several hours related to high fat diet and strenuous physical exercise beginning on both at age 14 years. The father, paternal uncle, paternal grandfather and another son of the mother also had paroxysmal muscle cramps. The two studied cases showed normal findings for physical evaluation, blood lactate after ischemic exercise, and muscle histology (light and electron microscopy). The serum creatine kinase was elevated in the son and normal in the mother. However, 72 hour fasting significantly raised the serum creatine kinase level in both cases. Plasma concentration of ketone bodies and acid soluble acyl-carnitine increased normally with prolonged fasting. The biochemical evaluation of the muscle tissue revealed intact anaerobic glycolysis and normal glycogen content but combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine in both cases.

Acyltransferases↗
PubMed1979

Salicylate intoxication and influenza in ferrets.

A model of salicylate intoxication was developed in ferrets to permit the evaluation of the interaction with viruses isolated from patients with Reye's syndrome. Salicylate intoxication produced a mild elevation of the serum glutamic oxaloacetic transaminase and fatty changes in the liver, but these changes differed from those seen in Reye's syndrome on light and electron microscopy. Salicylates were associated with decreased activity of hepatic phosphorylase and a slight depression of activity or ornithine transcarbamylase, a mitochondrial urea cycle enzyme. Infection with influenza viruses produced mild fatty changes in the liver, but did not significantly potentiate the effects of salicylate intoxication on the over-all mortality, the degree of fatty changes, or the hepatic enzymes. Influenza infection alone was not associated with decreased hepatic phosphorylase activity, but was associated with decreased activity of ornithine transcarbamylase. Influenza A was isolated from the livers of two of four animals cultured in embryonated eggs.

Animals↗
PubMed1977

Ankle joint synoviography in rheumatoid arthritis.

Twenty-six ankles of 23 patients with seropositive or negative arthritis and 24 ankles of 12 cadavers as a control group were studied by contrast synoviography. The main features in the patients were capsule enlargement, hypertrophic synovitis, and connections to tendon sheaths and to the posterior subtalar joint. None of the controls showed capsule distension or irregular outline of the joint cavity, but connections to tendon sheaths and/or to the posterior subtalar joint were present. Other features such as tibiofibular recess, early lymphatic filling, and joint destruction were seen.

Adolescent↗
PubMed1976

Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.

Since Reye's syndrome is associated with hyperammonemia, we measured the urea-cycle enzymes in hepatic tissue of 13 patients. Expressed as nanomoles of citrulline per milligram of hepatic protein per minute, mean activity of carbamyl phosphate synthetase (6.27 +/- 2.45 S.D.) and ornithine transcarbamylase (136.19 +/- 41.83) in Reye's syndrome was reduced significantly (P less than 0.005) when compared with that of 25 "normal" controls (11.54 +/- 4.24 and 307.49 +/- 94.15, respectively). Activity was maximally reduced during the first days of clinical symptoms; it returned toward normal during the following week regardless of whether the disease ended in death or recovery. The activity of the two enzymes was normal in patients with salicylate intoxication or heritable argininosuccinic acid synthetase deficiency. The apparent Km of hepatic ornithine transcarbamylase for ornithine was in the normal range in patients with Reye's syndrome (mean 0.24 mM). These observations indicate that Reye's syndrome is associated with acquired and transient dysfunction of hepatic mitochondrial urea-cycle enzymes.

Age Factors↗
PubMed1976

Genetic factors and autoimmunity in viral hepatitis.

Whether a patient develops the HBsAg carrier state may depend on his genome. HBsAg subtypes may reflect the viral genome and may be of prognostic significance. Different subtypes predominate in different populations throughout the world. Altered immune response, as in patients with Down's syndrome, may increase the HBsAg carrier rate. Autoantibodies have been used to differentiate various types of hepatitis. There is an increased incidence of histocompatibility antigen HL-A1 and HL-A8 in patients who have chronic aggressive hepatitis. In primary hepatic carcinoma, the HBsAg carrier rate is increased. Because of the suggestion that neonatal hepatitis, biliary atresia and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as alpha 1-antitrypsin deficiency are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, alpha 1-antitrypsin deficiency, and renal disorders. The HBsAg carrier rate in the sera of these patients was normal.

Autoantibodies↗