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Biomedical subjects

C Bachmann

Publications and source records attributed to C Bachmann.

At least 91 records · Page 5Linked to original sources
PubMed1988

[Disease course in 20 patients with an early diagnosis of phenylketonuria and hyperphenylalaninemia].

Twenty patients with PKU or hyperphenylalaninemia at ages 0.1 to 15.6 years (median age 6.2 years) were studied prospectively. In all children the condition had been diagnosed when they were neonates on the basis of an abnormal Guthrie test. To maintain plasma phenylalanine levels between 0.2-0.5 mM, dietary restriction of phenylalanine to 20-80 mg/kg daily (median 40 mg/kg) was necessary in 14 children. In children above 8 years, however, these plasma levels were frequently exceeded. In 6 children plasma phenylalanine levels were higher than normal diet. Height, weight and head circumference were within normal range in all patients at all ages. Determinations of DQ/IQ were done at 2, 4, 6 and 8 years of age and revealed values between 90-120 with a median of 102 in the 14 patients who were tested. Only 1 patient had IQ levels between 75-85 and attended special school. Nine other patients were in grade school performing averagely or above. This study confirms that early treatment and long-term follow-up of patients with PKU yield good results. Unsolved problems include duration of dietary treatment and the management of pregnancy in women with PKU.

Adolescent↗
PubMed1988

Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy.

In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.

Biopsy, Needle↗
PubMed1988

DNA analysis of ornithine transcarbamylase deficiency.

By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers. In one case a doubtful result obtained in a biochemical carrier detection test (by examining the renal orotic acid excretion after a protein load) could be clarified by DNA analysis. In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis. Previous results of the biochemical carrier test should be controlled by DNA analysis, especially when "normal" results were obtained.

Amino Acid Metabolism, Inborn Errors↗
PubMed1988

N-acetylglutamate synthetase deficiency, a second patient.

A second patient with N-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.

Acetyltransferases↗
PubMed1988

Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography.

Methylcitric acid, a metabolite of abnormal propionyl-CoA metabolism, is elevated in amniotic fluid when the fetus is affected with propionic acidaemia or methylmalonic aciduria. We developed a method for quantifying methylcitric acid in amniotic fluid by solid-phase extraction, derivatisation to the t-butyl-dimethylsilylester, and gas chromatography-mass spectrometry with electron-impact ionisation, using the deuterated analogue of methylcitric acid as an internal standard. The main advantages are a good sensitivity, simple sample preparation, and feasibility on instruments equipped with mass specific detectors.

Amino Acid Metabolism, Inborn Errors↗
PubMed1988

Antihypertensive and metabolic effects of ketanserin in diabetic patients with mild hypertension.

Ketanserin is a serotonin S2 receptor antagonist with antihypertensive activity. Its effects on blood pressure, glucose metabolism and serum lipids were assessed in 24 patients with diabetes mellitus and mild arterial hypertension in a double blind, placebo-controlled trial. Ketanserin in doses up to 80 mg daily caused a slight decrease of supine BP (from 159/97 +/- 19/11 to 153/90 +/- 20/9 mm Hg; NS/P less than 0.01) and upright BP (from 160/102 +/- 18/13 to 151/93 +/- 12/12 mm Hg; P less than 0.05/NS). However, these pressures did not differ significantly from the levels observed in the placebo group. Supine and upright heart rate, body weight, plasma sodium and potassium, serum creatinine, glucose, C-peptide, glycosylated haemoglobin, serum cholesterol and triglycerides, their lipoprotein fractions, apolipoprotein A1, A2 and B concentrations and the responses of serum glucose and insulin to a standard oral glucose loading test did not change. These findings indicate that the selective S2 receptor antagonist ketanserin did not unfavourably influence glucose and lipid metabolism in diabetic patients with arterial hypertension.

Adult↗
PubMed1987

[Allopurinol-induced kidney failure with hepatitis and squamous dermatitis in pre-existing kidney insufficiency].

We report on a female patient with analgetic nephropathy in whom allopurinol therapy was started because of asymptomatic hyperuricemia and who 2 months later developed a syndrome characterized by icteric hepatitis, exfoliative dermatitis and progressive renal failure. After discontinuation of allopurinol and temporary peritoneal dialysis the patient recovered from the initially threatening condition. Analysis of case reports from the literature indicates that this syndrome is due to the allopurinol metabolite oxypurinol and is most frequently observed in patients with renal failure on concomitant treatment with diuretics.

Acute Kidney Injury↗
PubMed1987

Enzymology of human myometrium: variations related to the hormonal milieu.

The activities of various enzymes involved in glycolysis, tricarboxylic acid cycle and fatty acid oxidation were assayed in human myometrium. A gradient of the activities from fundal to cervical myometrium was observed. In contrast to studies performed in rodents, cyclic changes of glycolytic enzymes could not be detected. Hydroxyacyl-CoA-dehydrogenase (HAD) activity was higher in secretory phase myometrium and in cases with cystic hyperplasia of the endometrium than in proliferative phase myometrium. In pregnant myometrium, lactate dehydrogenase (LDH) and glycogen phosphorylase (GLP) were increased and in postmenopausal myometrium the activities of phosphofructokinase (PFK), LDH and succinate dehydrogenase (SDH) were decreased as compared to proliferative phase myometrium. We conclude that in the human myometrium, except for HAD, activities of enzymes involved in fuel metabolism are stable throughout the menstrual cycle and that only prolonged hormonal stimulation leads to alterations of some enzyme activities.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1987

Liver fibrosis in carbamoylphosphate synthetase deficiency.

Structural sequelae of inherited defects of the urea cycle in general, and their liver pathology in particular, are still not well understood. This holds true especially for the possible late effects in involved organs of patients now surviving longer because of more effective therapy. Some urea cycle defects may result in chronic and progressive liver damage, as has been reported. A peculiar type of liver fibrosis was observed in a girl with carbamoylphosphate synthetase deficiency, who survived for 1 year and 7 months. Hepatic fibrosis, or even cirrhosis, has been observed in argininosuccinic aciduria. Long-term survivors with urea cycle disorders may form a group at risk for the development of chronic fibrosing liver disease.

Carbon-Nitrogen Ligases↗
PubMed1987

Activities in leiomyomas and myometrium of enzymes involved in energy metabolism.

The activities of six enzymes involved in energy metabolism were measured in leiomyoma specimens and in the adjacent normal myometrium from the uterus of 17 patients. In leiomyomas the specific activities of hexokinase, lactate dehydrogenase and hydroxyacyl-CoA dehydrogenase (HAD) were higher than in myometrium. The soluble protein content was lower in leiomyomas. Therefore, most of the differences of specific activities were not found when the enzyme activity was expressed per gram wet weight of tissue, except for HAD activity, which was still higher in leiomyomas (p less than 0.05). This result is compatible with increased fatty acid utilization by leiomyomas, and with the increased growth potential of such tumors.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1987

The renal handling of carnitine in patients with selective tubulopathy and with Fanconi syndrome.

Fractional tubular reabsorption (FTR) of free and acyl carnitine was measured in 15 patients with various selective tubular transport defects and in 19 patients with more generalized tubular dysfunction (Fanconi syndrome). FTR of free carnitine was normal in all patients with a selective tubulopathy, FTR of acyl carnitine was normal in most, and plasma carnitine levels were normal without exception. In these patients, there was no evidence for the existence of a defective renal transport mechanism shared by carnitine. In the patients with Fanconi syndrome, mean FTR of free and acyl carnitine was low; their plasma carnitine levels were lowered and correlated with the FTR. In individual patients, FTR of free and acyl carnitine also correlated with the severity of the disease. In the group of Fanconi syndrome patients, FTR of free and acyl carnitine correlated linearly with that of valine. We concluded that the lowering of plasma carnitine in the patients with Fanconi syndrome was caused by excessive loss of carnitine in urine. Its pathophysiological significance remained to be established.

Carnitine↗
PubMed1987

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.

Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively. The aim of the investigation was to assess the effect of supplementing citrulline, arginine, or ornithine (2 mmol/kg per day) while on a protein-restricted diet. The peroral supplementation was carried out during 2 wk for each amino acid. While ammonia in plasma was not increased the supply of citrulline or arginine led to a reduction of plasma glutamine compared to ornithine supplement or to no supplement (control period). Plasmatic ornithine was raised in all instances. Homocitrulline excretion was lower with all additions compared to the control period. Adding citrulline to the diet (in contrast to supplementing arginine) did not lower tubular lysine reabsorption. A lowered creatine excretion was found which could be normalized by arginine or citrulline. The data are compatible with a product inhibition of arginino-glycine transamidinase suggesting that the enzyme is not located in the mitochondrial matrix in man. Citrulline supplement combined with a protein-restricted diet appears to allow a normal development. The additional finding of a factor VII and X deficiency in one of the patient and reports in the literature of this association in two other patients with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome suggest that the genetic defect leading to the syndrome might be located on chromosome 13.

Amino Acid Metabolism, Inborn Errors↗
PubMed1987

Diagnosis of urea cycle disorders.

Hyperammonemia in pediatrics can be due to a number of causes (defects of urea cycle enzymes or transport of its metabolites, organic acidurias, acyl-CoA dehydrogenase or carnitine deficiency, liver bypass or nonspecific insufficiency) requiring differentiated rapid treatment for a satisfactory prognosis. The specific diagnosis cannot be established by clinical means. Thus the work-up rests on biochemical analyses. The methods used are detailed and their interpretation discussed. An algorithm for the interpretation of the data which can easily be computerized is presented. The procedure has proven practicable in 126 patients with urea cycle disorders.

Algorithms↗
PubMed1987

[Postnatal growth of the exterior nose].

The anthropological measurements about the nasal growth and the growth of different parts of the face have been done at 201 children between 3 and 14 a and 119 students of the Würzburg University. The jugal distance, the morphological face height, the nasal height, and the nasal depth, the nasal length, the intercanthal distance, and the alar distance were estimated. Included are measurements of the sagittal orbital angle, different indices of the face and nose.

Adolescent↗
PubMed1986

Stimulation of tryptophan uptake into brain microvessels by D-glutamine.

The uptake of L-tryptophan into isolated porcine microvessels is increased by preincubation with L-glutamine as well as with D-glutamine. This could indicate that gamma-glutamyltranspeptidase is involved in the stimulation of uptake of large neutral amino acids into the brain observed in hyperammonemic conditions.

Ammonia↗