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Biomedical subjects

G Knöpfle

Publications and source records attributed to G Knöpfle.

At least 55 records · Page 3Linked to original sources
PubMed1979

[Adolescent cystinosis. Review of the literature and case report (author's transl)].

A case of adolescent cystinosis in a 17 1/2 year-old boy is reported. The metabolic disorder was diagnosed at the age of 13 years. Cystine was demonstrated in cornea and bone marrow and was increased in fibroblasts (3.64 nMol 1/2-cystine/mg protein). The renal lesions were characteristic of mesangioproliferative glomerulonephritis. The rate of detoriation in renal function increased from 1.5 to 6.6 mg/100 ml serum creatinine during the time of follow up. As well as the parents one brother (0.51 nMol 1/2-cystine/mg protein) appears to be a heterozygote carrier of the cystinosis gene. The striking features in adolescent cystinosis were shown by a review of the literature and the present case report.

Adolescent↗
PubMed1978

[Idiopathic nephrotic syndrome and diabetes mellitus (author's transl)].

The paper reports on an adolescent aged 19 1/2 years, in whom a relapse of the idiopathic nephrotic syndrome occurred after a 6 years' remission, when diabetes mellitus had become manifest about 6 months before. Histologically, minimal-changes lesions were found in the kidney at the beginning and also 2 1/2 years after manifestation of the diabetes mellitus; these lesions were of the same type as those which are characteristic for the idiopathic nephrotic syndrome in children. The renal changes in children and adolescents suffering from diabetes mellitus with simultaneous or concurrent onset of nephrotic syndrome, are discussed and contrasted with the lesions observed in adult diabetes. Attention is drawn in this paper to similarity in nature and direction of the biochemical changes of the glomerular basement membrane in the idiopathic nephrotic syndrome and in diabetic nephropathy, as a possible common pathogenetic factor for the occurrence of a marked proteinuria.

Adult↗
PubMed1977

[Changes in the thyroid hormone system with combined anticonvulsion treatment of epileptic children and adolescents (author's transl)].

Anticovulsant combined treatment produces statistically significant reduction of total thyroxine, free thyroxine and protein-bound iodine. Total cholesterin is significantly raised on average of the total. Basal concentration of thyreotropic hormone is slightly lowered. The extent of changes is rather greater than with Valproat-, Diphenylhydantoin- and primidon permanent treatment; it corresponds with that seen in long term Carbamazepin treatment. No definite combinations of anticonvulsants could be found which would act in a particularly unfavorable fashion on the thyroid hormone system. In double combinations the changes in serum concentrations were the same as in triple combinations. The action of combined treatment in permanent treatment with single drugs is thought to be due to a removal of T4 from the transport protein link and induction of liver enzyme, which produces rapid conversion and metabolizing of T4. A hypothalamic action of combined antoconvulsants is discussed.

Adolescent↗
PubMed1977

[The effect of primidone treatment of thyroid hormones in epileptic children and adolescents (author's transl)].

In primidon-treated patients there are significantly decreased serum concentrations of total and free thyroxin, protein bound iodine and base line serum TSH values. In primidon-treated children T3-resin test values, concentration of thyroxin-binding protein and total cholesterol are identical to those of the control group. Degree of diminution in serum concentration of protein bound iodine, total and free thyroxin and base line TSH was independant of the primidon dose per day. Probably the demonstrated alteration in the thyroid function tests studied, is mainly caused by phenobarbital, the major metabolite of primidon and not directly by unmetabolized primidon. It is suggested that the high protein-binding capacity of phenobarbital results in a competitive displacement of protein bound thyroxin comparable to that of DPH. Phenobarbital is know to be a stimulator of the drug metabolizing enzyme system in the liver. This effect may be the cause of an increased turnover of T4 which results in a decreased serum concentration of total and free T4 at last. It seems possible that there is a balance in serum concentration of thyroid hormones on a lower level. Normal euthyroid state may be presumed, if T4-secretion raises, but there is no clue for an increased pituarity response. In contrast to the normal group in primidon-treated children the base line serum TSH values are decreased. It is supposed that another effect of primidon is responsible for this fact. There may be an influence of primidon treatment on hypothalamic pituarity axis. Our findings do not indicate clearly a hypothyroid state in primidon-treated patients; further investigations should give an answer to the guestion, if side effects as tiredness, decreased impetus and constipation are not partly caused by alterations in thyroid hormone system.

Adolescent↗
PubMed1977

[Alpha1-fetoprotein: physiology, pathology and diagnosis especially in childhood (author's transl)].

Alpha1-fetoprotein (AFP) is an alpha1-glycoprotein which can be found in high concentration during fetal development in many mammals, birds, sharks and, also, man. The alpha-fetoproteins of various species have similar physico-chemical properties and often common antigenic determinants. Differences of microheterogeneity depend on a different content of sialin-acid. During human fetal development the serum AFP concentration falls with increasing gestational age. 4-5 weeks after birth AFP can be detected usually in low serum concentrations. Using more sensitive immunulogic techniques e.g. radioimmunoassay there was shown that AFP is present in sera of normal adults in concentrations of 10-20 ng/ml. AFP serum concentrations rise physiologically during pregnancy up to 500-550 ng/ml. During fetal development liver, yolk sac and gastrointestinal tract are the major sites of synthesis. In primary liver cell carcinoma, hepatoblastoma and in teratoblastoma containing yolk sac tissue AFP synthesis rises in tumor cells; the AFP serum concentration increases above 2 microgram/ml. In patients with benign liver diseases e.g. virus hepatitis, a transient rise of AFP serum concentrations was seen. Moreover, increased levels of AFP were found in hereditary diseases e.g. congenital tyrosinemia, ataxia-telangiectasia and in the amniotic fluid in congenital nephrosis of Finnish type. AFP assay in serum is clinically important for the control of course and treatment of primary liver cell carcinoma and teratoblastoma. AFP assay in amniotic fluid is a method for the prenatal detection of neural tube defects and the fetal distress syndrome, especially.

Adolescent↗
PubMed1976

Serum alpha1-fetoprotein in cystic fibrosis.

In 38 children and adolescents with cystic fibrosis, in 19 normal children and 62 healthy adults the serum alpha1-fetoprotein concentrations were measured by radioimmunoassay. In cystic fibrosis patients 97.5% and in normal children 95% of the alpha1-fetoprotein values were within the normal range for healthy adults (1--9 ng/ml). Critical judgement of the reported findings in literature and our own results demonstrate that the investigation of alpha1-fetoprotein in the serum cannot serve for detecting homozygotes of cystic fibrosis genes or heterozygote carriers.

Adult↗
PubMed1976

[The influence on the thyroid hormone system by long-term anticonvulsive therapy with valproat (author's transl)].

Valproat lowers the serum concentraiton of PBI and T4 in epileptic children. Since this reduction is not so pronounced with PBI as with T4, the difference in comparison with the controls could not be statistically verified with the desired probability of error. The reduction of general thyroxine can be statistically verified when compared with healthy control individuals. Free thyroxine is not influenced by Valproat therapy. The TBG TSH and the T3 in vitro test do not indicate variations from the healthy control subjects. The same is true for serum cholesterol. Valproat does not cause hypothyroidism; the reduction in PBI values and T4 serum concentration must be explained by competative displacement out of the protein bonds by Valproat.

Acetates↗
PubMed1976

[Familial vesicoureteral reflux (author's transl)].

One family with all four children affected by vesicoureteral reflux is reported. The mother of children has shrinking kidneys. The possibility, that the congenital abnormality of vesicoureteral reflux is inherited, is discussed. The awareness, that reflux may be familial, led to search for the abnormality in close relatives.

Adolescent↗
PubMed1976

[Influencing of the thyroid hormone system by long-term treatment with 5-5 diphenylhydantion in children and adolescens (author's transl)].

In the context of anticonvulsive maintenance therapy in epileptic children and adolescents, 5-5-diphenylhydantoin leads to a statistically significant decrease in total thyroxin (T4), protein-bound iodine (PBJ) and free thyroxin (FT4). The consequences of DPH therapy are based on the direct and indirect influence of DPH on the thyroid hormone system. DPH competitively pushes the T4 out of its plasma-protein bond. The lowering of T4, PBJ and finally also FT4 can be traced back to an indirect influence of DPH which consists of an increase in T4 metabolism in the liver by the DPH-induced enzyme. The possibility of a direct effect of DPH on the hypothalamus was discussed.

Adolescent↗
PubMed1975

[Serum concentrations of vitamin A, carotene, retinol-binding protein and prealbumin in patients with cystic fibrosis (author's transl)].

Vitamin A, carotene, retinol-binding protein (RBP), and prealbumin (PA) have been measured in 42 children and adolescents with cystic fibrosis (CF) and in 92 normal controls. All patients with CF were on vitamin A palmitate in twice the dose for normals. For statistical analysis U- test of Wilcoxon, Mann and Whitney, parametric correlation coefficient and Spearman's rank correlation coefficient were used. Compared with those in normal controls mean serum concentrations of vitamin A, carotene and RBP were depressed in patients with CF (P smaller than 0.001), whereas PA levels did not differ significantly from those of normal individuals. In normal controls there was only in serum concentration of PA an elevation with age (r=0.455, P smaller than 0.001). In patients with CF, serum concentration of vitamin A decreased in correlation with age (r=--0.423, P smaller than 0.01). PA and RBP as well as RBP and vitamin A were positively related in both groups (P smaller than 0.001). In normal individuals there was a highly significant correlation between serum concentrations of vitamin A and carotene (rs=0.606, P smaller than 0.001), whereas in patients with CF this relationship was less significant (rs=0.311, P smaller than 0.02).

Adolescent↗
PubMed1975

[Congenital chylous ascites. Case reports and review of 51 recorded cases (author's transl)].

A case of a nearly 3-year old girl with chylous ascites in neonatal period is reported. Repeated paracentesis were performed and the child was treated with a low fat diet. After time of 8 weeks ascites did not recur. It is purposed, that there was an abdominal lymphdysplasia. The 51 cases in the reviewed literature are analyzed in terms of symptoms, treatment, etiology and prognosis. It is suggested, that congenital chylous ascites should be treated conservative at first.

Child, Preschool↗
PubMed1975

[Segmental hypoplasia of the kidney (author's transl)].

A case of a 12-year-old girl with renal segmental hypoplasia and hypertension is reported. At first treatment was conservative. After increasing of hypertension nephrectomy of the right hypoplastic kidney with vesicoureteral reflux was performed. This procedure influenced hypertension well, but renal failure increased. The value of treatment is discussed.

Child↗
PubMedDate not supplied

Flow analysis in the pulmonary trunc in fetuses with tetralogy of Fallot by colour Doppler flow mapping; two case reports.

Prenatal diagnosis of tetralogy of Fallot by two-dimensional echocardiography, which is based on demonstration of a ventricular septal defect and a large overriding aorta, is difficult. In the majority of cases the main pulmonary artery is small. In utero, there is no pathologically increased degree of the physiological right-ventricular hypertrophy. Colour Doppler flow mapping of reverse flow from the descending aorta via the ductus arteriosus into the main pulmonary artery is easily demonstrated, and provides an indirect sign of severe right-ventricular outlet obstruction. The technique also differentiates between pulmonary stenosis and atresia; the stenotic jet, even small, is identified by demonstration of high velocities and turbulences in the main pulmonary artery.

Adult↗
PubMedDate not supplied

[Malignant pheochromocytoma in childhood and adolescence--clinical case and review of the literature].

In regard to the diagnostic and therapeutic dilemma concerning rare neoplasms in childhood, the presented paper includes the comprehensive description of a malignant pheochromocytoma in a 14-year-old girl on the one hand and the detailed analysis of a collected series of 21 equal cases in pediatric literature on the other hand. In our patient there was in particular a lack of hypertension in spite of proven hypercatecholaminemia, an initially good effect of the post-operative aggressive chemotherapy according to the neuroblastoma study NBL 79 (4b) resulting in a transient reduction of the pulmonary metastases, furthermore a diminuation of the total tumour mass induced by the last applied treatment with the radiopharmaceutical 131I-metaidiobenzylguanidine. The analysis of 21 case reports revealed a peak between 10 and 15 years of age, a striking prevalence of the female sex in all age groups, and a high frequency of metastases (75%) at the time of diagnosis. Two thirds of the primary tumours arose in extra-adrenal sites, about one third occurred in the adrenal gland. The regional lymph nodes, the bone system and the lungs were the main locations of metastatic lesions. The association with a group of other conditions, particularly hypoxemic congenital heart malformations has proved to be a remarkable feature, but not only in the malignant forms.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

[Adrenal cortex carcinoma in childhood and adolescence].

The presented paper includes the medical records of two girls with adrenal cortical carcinomas on the one hand and the detailed analysis of a collected series of 150 equal cases in pediatric literature on the other hand. In our patients there were a primarily metastatic, non-functioning tumour and a locally invasive, hormone-secreting neoplasm respectively. The latter one produced a Cushing's syndrome with signs of virilization. In this case surgical removal was followed by postoperative irradiation and adjunctive cytostatic therapy with cyclophosphamide and adriamycin for one year. But tumour recurrence occurred within 6 months. A treatment with the antitumour agents aminogluthetimide and o,p' DDD was transiently effective. However drug-induced side effects necessitated the stop of this regimen after 5 months. The analysis of 150 case reports revealed a peak between 1 and 3 years of age, a striking prevalence of the female sex in all age groups, and a metastasizing rate of about 30% at the time of diagnosis. Regional structures, liver and lung were the main locations of metastatic lesions. The occurrence of second primary neoplasms and the association with a group of other conditions particularly congenital disorders have proved to be a remarkable feature of the disease. In primary adrenal cortical tumours the determination of the neoplasm's biological behaviour by morphologic criteria alone can often be very problematical. This fact is especially stressed.

Adrenal Cortex↗