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Biomedical subjects

W Endres

Publications and source records attributed to W Endres.

At least 73 records · Page 4Linked to original sources
PubMed1983

Survival time in cystinosis. A collaborative study.

In a retrospective study the overall survival time of 205 cystinotic patients of six countries was determined. The median survival time was 8.5 years. The median time for 'renal death' (age at death due to uraemia or age at starting renal replacement therapy) was 9.2 years. The youngest patient dying of renal death was 5.2 years. No sex difference in survival time was noticed. Furthermore no difference in survival time was noted between the different countries. The analysis of the overall survival curve indicates no clear differences between the infantile and adolescent types of cystinosis.

Adolescent↗
PubMed1982

[Various forms of cystathioninuria].

Isolation and identification of cystathionine were the basis for the determination of the renal cystathionine excretion in healthy children. Pathologically increased urinary levels of cystathionine may reflect either an inherited enzyme defect, or transient impaired adaptation in premature infants, or a secondary phenomenon in neuroblastoma and certain liver disorders. Pyridoxine dependency was shown in a child with primary cystathioninuria. Urinary cystathionine concentration in premature newborns decreased when treated with pyridoxine. Secondary cystathioninuria was found in biliary atresia, cytomegalovirus infection, neuroblastoma, vitamin D intoxication and hyperglycinemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1982

Parenteral nutrition with a "breast milk adapted" solution of amino acids in infants and children after abdominal surgery.

Plasma amino acid levels as well as urinary and plasma concentrations of nitrogen were determined in 24 infants and 12 children on five consecutive days after major abdominal surgery. Parenteral nutrition was carried out by means of two different amino acid solutions. One formula (PE) was based on the amino acid composition of potato-egg protein, the other (BM) on that of human breast milk. Control subjects received glucose only. The controls showed decreased plasma levels of most amino acids as well as negative nitrogen balances. In contrast, in the patients treated with amino acids the plasma concentrations of most amino acids were found in the normal range. In the infants elevated plasma amino acid levels were found more often in the BM-group than in the PE-group. Among the children, however, the PE-group showed an elevation in the plasma levels of amino acids more frequently than the BM-group. There is no significant difference in the positive nitrogen balance between the BM-groups and the PE-groups. Therefore, it can be concluded that the use of BM has no clear advantage over that of PE.

Abdomen↗
PubMed1982

Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.

This report presents the first case where an infant with tetrahydrobiopterin deficiency has been identified by screening of newborns with hyperphenylalaninemia for tetrahydrobiopterin deficiency. Therapy with L-Dopa, 5-hydroxytryptophan, Carbidopa and tetrahydrobiopterin was started at the age of seven weeks while the child received a normal diet. At that time already muscular hypotonia was observed. The girl, now 2 1/2 years old, shows slight muscular hypotonia and hypomotility, short periods of hypertonic extension of the limbs, and retardation of sensomotor and mental development of about 6-8 months. Monotherapy with tetrahydrobiopterin dihydrochloride, 20-40 mg/kg b.w., diminished the muscular hypotonia. The effect lasted however for only about 1 day. While urinary serotonin and phenylalanine remained normal for at least 3 days and neopterin was only slightly elevated, urinary free dopamine however remained low. Similar results were obtained after 1',2'-diacetyl tetrahydrobiopterin dihydrochloride administration, 20 mg/kg b.w.

5-Hydroxytryptophan↗
PubMed1982

[Direct determination of phenylalanine in serum by derivative spectrophotometry (author's transl)].

A simple and precise method is described for the determination of phenylalanine in serum or plasma, using derivative spectrophotometry. After the removal of protein and uric acid, 100 microliters serum or plasma are analysed directly for phenylalanine. The magnitude of the difference between the peak minimum at 254 nm and the peak maximum at 257 nm of the derivative spectrum (2nd derivative of the absorption spectrum) is directly proportional to the phenylalanine content. The precision was 2.1-10.3%, depending on the concentration of phenylalanine. Recovery was between 97.1 and 101.1%. Sensitivity was 5 mg/l serum. The method was compared with a column chromatographic determination of phenylalanine.

Humans↗
PubMed1981

D-penicillamine in pregnancy--to ban or not to ban?

The action of D-penicillamine on collagen can cause undesired side-effects in the treatment of cystinuria and Wilson's disease, it is on the other hand essential to the therapy of rheumatoid arthritis and scleroderma. Furthermore D-penicillamine can be potentially teratogenic, since it crosses the placental barrier. From the literature and our own observation of two pregnancies it is shown that among 87 pregnant women who received D-penicillamine 46 cases were treated during the whole period of pregnancy. Two infants from the latter group were found to have severe connective-tissue defects. We suggest that the dose of D-penicillamine in pregnant patients with cystinuria and Wilson's disease should be kept as low as possible. In the case of rheumatoid arthritis D-penicillamine should not be given during pregnancy.

Arthritis, Rheumatoid↗
PubMed1981

[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report].

A female newborn, the second child of healthy non consanguineous parents, exhibited muscular hypotonia, areflexia, apathy, seizures, hepatomegaly and failure to thrive since birth. The peculiar skull shape was lacking. In the urine pipecolic acid and trihydroxycoprostanoic acid were excreted. At the age of seven weeks she died of bronchopneumonia. Lightmicroscopy revealed malformations and deficiency of myelinisation in the brain, renal cysts and fatty metamorphosis in the enlarged liver, which showed only minimal siderosis. Ultrastructurally no peroxisomes could be found in liver and kidney. No peroxisomes were detected by histochemical demonstration of catalase in frozen liver tissue which was taken immediately after death and stored for three months. Absence of peroxisomes is pathognomonic for the cerebro-hepato-renal syndrome of Zellweger and occurs in the liver irrespective of duration and degree of liver damage. It is best demonstrated by enzymehistochemical electron microscopy. With this method peroxisomes can be visualized even 30 h post mortem. In deep frozen normal liver tissue the activity of catalase remains very stable and enables the identification of peroxisomes even after a 12 months period of storage. In the cerebro-hepato-renal syndrome of Zellweger, frozen liver tissue should be stored for biochemical and diagnostic enzymehistochemical studies.

Autopsy↗
PubMed1979

Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.

The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.

Arginine↗
PubMed1978

Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease.

Secondary cystathioninuria was found in two of 46 children suffering from tumors, leukemia, liver disease, inherited metabolic disorders, cystic fibrosis and celiac disease. Of these two patients, one had congenital biliary atresia and the other cytomegalovirus infection. Seven further children had only moderately elevated excretion of cystathionine. It is suggested that secondary cystathioninuria is uncommon in the disease investigated.

Adolescent↗
PubMed1978

Renal excretion of cystathionine and creatinine in humans at different ages.

The renal excretion of cystathionine is not age-dependent when related to body surface. Regarding the urinary creatinine concentration as reference, the excretion of cystathionine in adults is lower than in infants and children. However, this is probably due to a higher urinary concentration of creatinine in adults compared to that in children. Premature infants excrete more cystathionine in their urine than mature infants. The same is true for premature infants on a methionine-enriched formula compared to premature infants on a low methionine formula.

Adolescent↗
PubMed1978

The influence of vitamin B-6 on cystathioninuria in premature infants.

The amount of cystathionine excreted in the urine of premature infants, ages 10 to 17 days, decreases after oral administration of 40 mg vitamin B-6 daily. Thus, it can be speculated that in vivo cystathionase of premature infants may be induced or activated by pyridoxine.

Birth Weight↗
PubMed1977

Cataract in a fetus at risk for oculo-cerebro-renal syndrome (Lowe).

A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.

Amino Acids↗
PubMed1977

The treatment of intractable diarrhea by the method of "Baustein" principle using a casein hydrolisate.

Ten infants with intractable diarrhea, celiac disease and small bowel resection were treated with a special dietetic regimen called "Baustein" principle. The three major food constituents were added to the formula stepwise: first glucose and maltodextrin followed by protein and vegetable oil or MCT oil. The protein source was a newly developed casein hydrolisate also containing minerals, trace elements and vitamins.

Caseins↗
PubMed1976

Hypohistidinemia in juvenile rheumatoid arthritis.

The mean level of plasma histidine in 86 children with rheumatoid arthritis was found to be significantly lower in comparison with that of controls. The possible influence of various drugs on the plasma histidine concentration is discussed.

Adolescent↗