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Biomedical subjects

G Hansen

Publications and source records attributed to G Hansen.

At least 127 records · Page 7Linked to original sources

Heterozygote detection in phenylketonuria.

Phenylalanine loading was carried out on 105 parents of children with phenylalanine hydroxylase deficiency and 33 apparently normal individuals with no family history of phenylketonuria. The best discriminant was found to be the logarithmic transformation of the slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration over the maximum serum phenylalanine concentration obtained after an oral load with a pure solution of L-phenylalanine. The overlap between heterozygotes for penylketonuria and normal homozygotes was 2.4 percent. The distribution of the discriminant values suggested three heterozygous phenotypes for phenylalanine hydroxylase deficiency, and the phenotypic combination of parents could be correlated to the phenotype of their affected offspring, i.e. classical phenylketonuria, mild phenylketonuria of hyperphenylalaninemia. The probability of heterozygosity for phenylketonuria was determined by means of the distribution of the discriminant values of the heterozygotes and that of normal homozygotes. The likelihood of being a heterozygote was corrected for the genetic background of the person requiring genetic counseling, and was finally expressed as the percentage probability of being a heterozygote for phenylketonuria.

Child, Preschool↗

Pulmonary complications, ventilation and blood gases after upper abdominal surgery.

Forty patients who underwent elective cholecystectomy were examined preoperatively and during the first postoperative week by physical examination, measurement of FVC and FEV1, arterial pH and blood gas analyses, and chest x-ray. Postoperative pulmonary complications (p.p.c.) were detected in 30 (75%) of the patients. Simple auscultation was the most sensitive tool in discovering p.p.c., but 18 of the 30 patients with complications also had a pathological chest x-ray. Obesity, smoking postoperative naso-gastric tube and postoperative wound infection were predisposing factors for p.p.c. Six patients with preoperative pulmonary disease all had a progress in their lung pathology. There was no definite relationship of duration of anaesthesia or drainage of the abdominal wound to development of p.p.c. The patients with p.p.c. showed a deeper and more prolonged fall in Pao2 postoperatively than the normal group. None of the normals showed an arterial Po2 below 70 mmHg in the postoperative course, while 63% of the p.p.c. group did. FVC and FEV1 showed marked reductions from preoperative values on the first postoperative day, and then gradually increased to near preoperative values after 1 week. Arterial pH and Pco2 showed no definite changes during the postoperative course.

Adult↗

Different phenotypes for phenylalanine hydroxylase deficiency.

Abnormalities related to the hydroxylation of phenylalanine to tyrosine are classified into three phenotypes based on the amount of dietary phenylalanine tolerated to keep serum phenylalanine within therapeutic levels, i.e., 180-425 micronmol/l(3-7 mg/100 ml) : (1) Classical phenylketonuria (PKU) tolerating approximately 17% of a normal intake of phenylalanine or approximately 0.12 mmol per kg body weight; (2) mild PKU with a tolerance some 50% higher; and (3) persistent hyperphenylalaninaemia (HPA) with serum phenylalanine values within therapeutic levels on a daily intake of greater than or equal to 0.7 mmol phenylalanine per kg body weight. Oral phenylalanine loading was performed on 100 heterozygotes for these abnormalities and 33 normal homozygotes. The slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration over the maximum phenylalanine concentration was the most powerful discriminant (D/-s, 3.54; overlapping 2.4%). Three heterozygous phenotypes were distinguished by this discriminant, and a significant correlation was observed between the phenotypic combination of the parents and the phenotype of their affected child. In particular, parents of children with classical PKU were clearly distinguished from heterozygotes for the other two abnormalities.

Adult↗

Serum tyrosine within the first hour after an oral load of phenylalanine.

Twenty-seven heterozygotes for phenylketonuria (PKU) and sixteen normal homozygotes were loaded with an amount of L-phenylalanine per body mass = 0.6 mmol/kg. Serum tyrosine concentration increased significantly within 15 min after the intake and the increase was rectilinear within the first 30 min. The initial rate of increase in serum tyrosine in heterozygotes was 0.47 mumol/l/min (range 0.20-0.98 mumol/l/min) and in normal homozygotes 1.2 mumol/l/min (range 0.80-1.9 mumol/l/min). The median serum tyrosine concentration increased within the first hour after an oral phenylalanine load (0.6 mmol/kg) of twelve infants with persistent hyperphenylalaninaemia (HPA), whereas serum tyrosine showed a decrease in forty infants with classical PKU. In ninetten infants with mild PKU serum tyrosine remained unchanged within the first hour after the load and then declined.

Adolescent↗

[Treatment of schistosomiasis haematobium with metritionate in OPD-patients (author's transl)].

40 patients--5 to 50 years of age--voiding eggs of Schistosoma haematobium in their urine--underwent treatment with Metrifonate at the OPD of Bong Mine Hospital, Liberia. The patients received 10 mg/kg body weight 3 times at a fortnight's interval. The drug was swallowed under medical supervision. 27 patients no longer passed eggs after the 1. dose of Metrifonate, 37 no longer voided eggs after the 2. administration. 1 patient did not show up for control after the 3. dose. Theoretically he may not be healed. 1 other patient who came for control after 12 months had been exposed to reinfection and again voided eggs in her urine. She had been negative after the 2. treatment. Reinfection may have happened. Patients could be controlled over a period of 6-14 months. Thus, Metrifonate seems to be an effective drug in the treatment of urinary schistosomiasis. Side-effects (nausea, abdominal pains, and--very rare--vomiting) were mild and disappeared spontaneously within less than 24 hours after medication. Patients did not have to interrupt school, daily activities, and treatment. Statistically, Metrifonate did not show any influence on transaminase SGOT, SGPT, and LDH during and after the course of treatment. The same evaluation applies to eosinophilia. There is no increase or decrease of this particular type of cell during and after treatment 7 patients showed alterations of their ECG curves. There were changes of the T-wave in V1-4. In adults traces were normal again several months after completion of treatment. It seems to be difficult to interpret ECGs in West African youngsters. X-ray photos of the lungs never revealed any pathological findings which could be connected to the course of treatment. Metrifonate seems to be a valuable drug in treatment of Schistosoma haematobium-infection. The drug is well tolerated if the treatment scheme--mentioned above--is used.

Administration, Oral↗

[Bilateral measurement of peripheral venous pressure: an additional test in the diagnosis of postthrombotic syndrome].

1123 measurements of peripheral venous pressure were performed on 587 patients with a tendency towards swelling in the legs. In 93 the measurements raised suspicion of obstruction to deepvein flow, confirmed by phlebography in 91, i.e. correct positive diagnosis by venous pressure measurements in 97.8%. In 57 patients with normal venous pressure measurements but clinical suspicion of deep-venous thrombosis, phlebography always confirmed the venous-pressure measurements, which are thus superior to routine clinical examinations.

Humans↗

Colony stimulating factor and the regulation of granulopoiesis and macrophage production.

The growth and differentiation of colonies of granulocytes and/or macrophages in semisolid cultures of hemopoietic cells requires the presence of "colony stimulating" factors (CS factors). Colony stimulating factors are found in serum, urine and certain tissues, and in media "conditioned" by certain cells in culture. A procedure has been developed for purification of CS factor from human urine. The 100,000-fold purified product is active on mouse bone marrow cells at less than or equal to 10(-11) M but is only partially purified. Polydispersity of activity has made further purification difficult and may necessitate use of biologically selective techniques such as immunosorbent chromatography. Knowledge of the properties of human urinary CS factor has been derived from the in vitro assay of biological activity following various treatments. It appears to be a sialic acid-containing glycoprotein of molecular weight 45,000-60,000 daltons that migrates electrophoretically between alpha1 globulin and albumin. Highly purified CS factor preparations can be iodinated with five atoms of iodine per molecule of protein without loss of biological activity. Neutralizing antibody to human urinary CS factor neutralizes CS factor from other human and monkey sources. Higher concentrations of antiserum are required for neutralization of murine CS factor. Human urinary CS factor has similar properties to human and murine CS factors that stimulate the early appearance of macrophages in murine colonies. It is physically distinct from CS factors that stimulate the formation of pure granulocytic colonies by murine or human hemopoietic cells. Purified CS factor of the human urinary type is being used to investigate the nature of the interaction of CS factor with target cells and its physiological role in vivo.

Animals↗