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Biomedical subjects

U Wendel

Publications and source records attributed to U Wendel.

At least 145 records · Page 8Linked to original sources
PubMed1984

[Scintigraphic diagnosis of multiple pheochromocytomas in childhood with 131I-m-benzylguanidine].

Scintigraphy with 131I-m-BG was used in 4 children with a history of multiple pheochromocytomas in order to localize further catecholamine-producing tumors prior to surgery. We overlook 7 scintigraphies without any side effect. Phenoxybenzamine did not interfere with tracer uptake into tumors. Scintigraphic localization of even smallest extra-adrenal tumors was successful in all cases. In most cases we were dealing with benign pheochromocytomas, but also a ganglioneuroma and metastases of a malignant pheochromocytoma could be revealed. Scintigraphy is a reliable technique for tracing pheochromocytomas and catecholamine-producing ganglioneuromas. It seems to be superior to other non-invasive techniques, furthermore, invasive techniques bearing higher risks may be suspended.

3-Iodobenzylguanidine↗
PubMed1984

[Initiation of treatment following screening for phenylketonuria].

The newborn screening for PKU is widely established in the F.R.G since 1969. Apart from the quality of dietary control, the age at starting therapy seems to be of high importance for the normal development of these patients. Therefore, the steps from first recording of an elevated Phe level until the beginning of treatment are listed and both, the optimal and the usual time procedure --that is without errors or mishaps--are described. The data of the PKU-Collaborative Study serve to exemplify these courses of events. Reasons for delay are discussed und suggestions for its avoidance are made.

Age Factors↗
PubMed1983

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

A boy, aged 7 months, of consanguineous parents presented with an acute onset of vomiting, fever, nonketotic hypoglycemia and acidosis and died from cardiac arrest after ventricular fibrillation. He had hepatomegaly and echocardiographically a non-obstructive cardiomyopathy. Autopsy was not allowed. After birth the child had suffered from a severe respiratory distress syndrome, transient metabolic acidosis and had a sweaty feet odour. Later on, development was retarded with a severe muscular hypotonia. Post mortem, numerous unusual organic acids were found in high concentrations in urine, e.g. dicarbonic acids, 2-hydroxyisobutyric, isovaleric, 3-hydroxyisovaleric acid, N-acyl glycines, isovalerylglutamic acid and sarcosine. This pattern indicated deficiencies of several acyl-Co A dehydrogenases in the metabolism of leucine, isoleucine, valine, lysine, short-chain fatty acids and sarcosine. This could be confirmed using cultured skin fibroblasts which were shown to degrade the corresponding labeled substrates insufficiently to 14CO2. It is assumed that the functional multiple acyl-Co A dehydrogenation deficiency is caused by a deficiency of a common link in the electron transfer system of these dehydrogenases which is inherited autosomal recessively in this family. Among the 12 patients reported, 7 died within the first 5 days of age.

Cardiomyopathies↗
PubMed1982

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.

A boy and a girl born to a consanguineous Tunisian couple are suffering from a slowly progressive nervous disorder. Initially they both had normal psychomotor development with acquisition of gait and speech. First symptoms in the boy were athetoid movements during the second year of life. He later lost all motor and language skills and developed muscular rigidity and intention tremor. At the age of five years, he was completely bedridden while he appeared mentally much less affected. His younger sister followed a similar course. The major specific abnormality detected was a strikingly elevated excretion of 2-oxoglutaric acid, which was identified by gas liquid chromatography, mass spectrometry, and enzymatic analysis. 2-oxoglutarate dehydrogenase activity in homogenates of cultured skin fibroblasts was reduced to about 25% of control values in both children. Although the pathogenetic mechanisms leading to brain damage remain obscure, the finding strongly suggest an autosomal recessive neurometabolic disease with predominant involvement of the extrapyramidal system.

Basal Ganglia Diseases↗
PubMed1982

Exchange transfusion in acute episodes of maple syrup urine disease. Studies on branched-chain amino and keto acids.

Two neonates with maple syrup urine disease were treated by exchange transfusion. Within 15 h blood leucine and KICA concentrations were lowered from 2.6 mM to 1.1 mM using 570 to 620 ml blood per kg body weight. The other branched-chain amino acid/keto acid pairs fell to normal. During exchange transfusion the patient's nitrogen balance seems to be negative. Further exchange transfusion was useless. More importantly the patient should be forced into an anabolic state by high caloric supply or insulin plus glucose treatment. More KICA than leucine was eliminated, however, KICA blood levels remained slightly higher than that of leucine indicating different leucine/KICA equilibria in extravascular compartments than in blood. In a given time interval exchange transfusion was more effective than peritoneal dialysis, probably due to a lack of an additional (peritoneal) membrane. Renal excretion of branched-chain amino and keto acids was very inefficient. The allegedly most toxic metabolite, KICA, had the lowest renal clearance of the branched-chain keto acids.

Amino Acids↗
PubMed1982

Maple syrup urine disease--therapeutic use of insulin in catabolic states.

High and neurotoxic blood levels of leucine and its ketoanalogue develop in catabolic patients with maple syrup urine disease. The use of relatively high doses of insulin and additional glucose had a more pronounced effect on lowering leucine (and alpha-ketoisocaproate) blood levels than dietary elimination of leucine alone. This is demonstrated in 2 neonates after blood exchange transfusion and in one 4-months old patient suffering from febrile diarrhea.

Glucose↗
PubMed1979

Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis.

A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroid-lipofuscinosis is briefly discussed.

Ataxia↗
PubMed1979

[Idiopathic osteolysis type Hajdu-Cheney in early childhood (author's transl)].

Severe clinical and radiological signs of the rare idiopathic osteolysis, type Hajdu-Cheney were manifest in a seven year old girl. A peculiar aspect of her face was evident since birth. The acroosteolysis and a general osteoporosis were radiologically visible when she was three years old. During the following 4 years there was a fast progression of the bone abnormalities and the shape of the skull became dolichocephalic.

Age Factors↗