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Biomedical subjects

J Schaub

Publications and source records attributed to J Schaub.

At least 73 records · Page 4Linked to original sources
PubMed1989

Fractionated total body irradiation plus high-dose VP-16 prior to allogeneic bone marrow transplantation in children with poor risk acute leukaemias.

Nineteen children (median age, 13 years; range 4 to 18 years) with acute lymphoblastic leukemia/lymphoma (ALL) (10 patients) or acute nonlymphoblastic leukemia (ANNL) (9 patients) received allogeneic bone marrow transplants (BMT). Marrow was taken from HLA-identical sibling donors (16 patients) (pts), HLA-identical unrelated donor (1 pt), or one-antigen-missmatched sibling donor (1 pt). Preparatory regimen consisted of fractionated total body irradiation and high-dose VP-16 (50-70 mg/kg body weight). At the time of BMT nine of the pts were not in complete remission (CR): seven pts were refractory to aggressive multiagent chemotherapy and two pts were in first relapse. Six pts were in second CR, one pt in third CR; three pts grafted in first CR carried additional risk factors; e.g. induction failure. Ten out of the nineteen pts are alive and free of disease between one and 53 months (median, 28 months) after BMT. The actuarial disease-free survival rate is 37% for pts with ANLL and 54% for pts with ALL. Six pts have died from BMT-related complications. Only three pts (1 pt with ALL, 2 pts with ANLL) have relapsed between day +106 and day +134 after BMT and subsequently died. The four-year actuarial relapse rates of 29% for ANLL and 14% for ALL, respectively, demonstrate that the combination of fractionated total body irradiation and high-dose VP-16 is an effective antileucemic regimen for children with advanced leukemias.

Adolescent↗
PubMed1988

Glycogen storage disease: recommendations for treatment.

A workshop was held on "Aspects of treatment of patients with glycogen storage disease" within the framework of the Concerted Action "Inborn errors of metabolism" of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.

Adolescent↗
PubMed1988

Fractionated total body irradiation and high-dose VP 16-213 followed by allogeneic bone marrow transplantation in advanced leukemias.

Thirty-eight patients (median age, 21 years) with acute nonlymphoblastic leukemia (ANLL) (17 patients), acute lymphoblastic leukemia/lymphoma (ALL) (18 patients), chronic myelogenous leukemia (two patients), and refractory anemia received allogeneic bone marrow transplants from HLA-identical sibling donors or a one-antigen-mismatched brother (one patient) after a preparatory regimen consisting of fractionated total body irradiation and high-dose VP 16-213 (60 to 70 mg/kg body weight). Of the 33 patients with acute leukemia who received grafts from HLA-identical donors, three patients with ANLL received transplants in first remission and one patient with standard-risk ALL received a graft while in second remission. All other patients were in more advanced stages of their disease or exhibited other high-risk features. At the time of analysis, 20 of the 33 patients were alive, with 19 of them remaining in continued complete remission for 6 to 35 months (median, 18 months). The 3-year actuarial disease-free survival rate of 56.6% +/- 9.7% (SE) and the actuarial relapse rate of 11.9% +/- 6.8% (SE) demonstrate that the combination of fractionated total body irradiation and high-dose VP 16 is an effective mode of therapy in patients with advanced leukemias. Preliminary experience cautions against the use of VP 16 instead of cyclophosphamide in any clinical situation carrying an increased risk of graft rejection because the immunosuppressive potency of VP 16 is largely untested but may be inferior to that of cyclophosphamide.

Adolescent↗
PubMed1987

Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

The uridine diphosphogalactose pyrophosphorylase activity has been determined in human adult and fetal tissues as well as blood of various ages by measurement of UDP-galactose production from gal-1-p and UTP. The highest activity was found from adult liver in which the specific activity was about 5% of the gal-1-p uridyltransferase activity. In general adult tissues had a somewhat higher activity than the corresponding fetal tissues except erythrocytes in which fetuses had a 5-10 times higher activity than adults. From normal blood the pyrophosphorylase activity in erythrocytes decreased with age, but in the case of galactosemia the decrease with age was not distinct. According to agarose gel isoelectrofocusing studies, at least two isozyme forms for UDP-galactose pyrophosphorylase exist with the activity bands between pH 6.0-6.15. The patterns of AGIF bands of pyrophosphorylase varied according to the age of the samples, suggesting the development of the isozyme forms of pyrophosphorylase to be age-dependent. Uridyltransferase, on the other hand, resolved into multiple bands between pH 5.1-5.6 on agarose gels and the patterns varied according to the variants but not to the age. Significance of the decrease in the pyrophosphorylase activity in erythrocytes with age as well as of the difference in AGIF bands between normal and the galactosemic were discussed with regard to the pathology of classical galactosemia.

Adolescent↗
PubMed1987

Iron balances in infant nutrition.

Iron balance studies were performed in 17 full term male infants from their 3rd until their 17th week of life. The balance studies were made in the infant's home and comprised 5 periods with an interval of 3-4 weeks, each consisting of three 24-hour collections. Ten infants were breast-fed, 3 received an adapted infant formula (P1, iron content 1.1 mg/l) and 4 were given the same formula enriched with iron, copper and zinc (P2, iron content 10.35 mg/l). From the 3rd to the 17th week of life the breast-fed infants got a mean iron intake of 0.2 mg/kg body weight X 3 days and they retained 0.09 mg/kg b.w. X 3 days. The P1 group received 0.48 and 0.47 mg/kg b.w. X 3 days and retained -0.01 and -0.5 mg iron/kg b.w. X 3 days, while the P2 group had an intake from 5.04 to 6.38 mg b.w. X 3 days and retained between 1.13 and 3.66 mg iron/kg b.w. X 3 days. Comparing the 3 groups it can be concluded that the P1 group retained definitely less iron than the breast-fed group, whereas the P2 group retained 12 to 40 times more iron than the breast-fed babies.

Breast Feeding↗
PubMed1986

Rett syndrome revisited: a patient with biotin dependency.

A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglyglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (Vmax and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.

Amino Acids↗
PubMed1985

[Allogeneic bone marrow transplantation after fractionated whole body irradiation. Results at the Kiel transplantation center].

Allogeneic bone marrow transplantations were carried out between March 1983 and July 1985 in 31 patients aged 7 to 45 years (median 18 years). Acute lymphoblastic leukaemia in 1st to 5th remission was present in 8 patients, acute myeloblastic leukaemia in 1st and 2nd remission in 4 patients, chronic myeloid leukaemia, with various remission status, in 6 patients, 3 patients had severe aplastic anaemia and there were single cases of myelodysplasia and immature cell megakaryocytic myelosis. Transplantation was carried out during relapse in 8 patients with either acute myeloid or lymphoblastic leukaemia. Phenotypic HLA-identical mothers (n = 2) as well as genotypic HLA-identical siblings (n = 27), and in two cases HLA-non-identical mothers, served as bone marrow donors. In leukaemia patients the conditioning treatment consisted of fractionated total body irradiation and high dose cyclophosphamide or etoposide. Patients with severe aplastic anaemia received cyclophosphamide (4 X 50 mg/kg) and fractionated total nodal irradiation (total dose 8 Gy). 19 patients (61%) survived 14 to 605 days after bone marrow transplantation. 15 patients (48%) continue to remain in complete remission with Karnofsky indices of greater than or equal to 90%. Causes for death were infection (n = 3), interstitial pneumonia (n = 3), relapse (n = 3) as well as single cases involving acute graft-versus-host-disease, non-engraftment of donor marrow and veno-occlusive disease of the liver.

Acyclovir↗
PubMed1985

Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells.

Kinetic and immunological studies of 1,4-alpha-glucosidase show that the distribution of acid, renal and neutral alpha-glucosidase at pH 4.0 and 6.5 is as follows: in liver and cultured fibroblasts and amniotic fluid cells the activity at pH 4.0 is mainly due to the acid enzyme. Even at pH 6.5, the activity is largely due to the residual activity of the acid enzyme. In kidney and leukocytes, however, the activity by acid enzyme at pH 4.0 represents only 30-60% of the total activity and the remaining activity is from renal enzyme. At pH 6.5, the activity is almost exclusively of renal enzyme. Renal alpha-glucosidase has a higher affinity for maltose (Km, 0.8 mmol/l) than acid enzyme, however; for glycogen acid enzyme shows the highest affinity (20.7 g/l). There is no significant difference in the kinetic characteristics of alpha-glucosidase between fetal and adult tissues. In kidney, however, a relative increase in renal enzyme to acid enzyme with age is found, i.e. in fetal kidney the alpha-glucosidase activity at pH 4.0 is more than twice that at pH 6.5, whereas in adult kidney, the activity ratio at pH 4.0-6.5 is approximately 1. Antibodies for human liver acid alpha-glucosidase decrease the alpha-glucosidase activity in normal leukocytes by 22-75% at pH 4.0 (0.54-3.8 nmol/min per mg protein). The decrease is significantly lower in patients with Pompe's disease (0-0.11 nmol/min per mg protein) as well as in their parents and some siblings (0.15-0.70).

Adult↗
PubMed1984

Glycogen storage disease type Ib: familial bleeding tendency.

A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.

Adolescent↗
PubMed1983

Prenatal diagnosis of galactosemia and properties of galactose-1-phosphate uridyltransferase in erythrocytes of galactosemic variants as well as in human fetal and adult organs.

The kinetic characteristics and isoelectrofocusing patterns of uridyltransferase and the concentrations of galactose-1-phosphate in hemolysates were investigated in a family with compound variants of Duarte and classical galactosemia. There were no significant differences in Km values between the genotypes. However, the isoelectrofocusing study with thin-layer polyacrylamide gels (PAGIF) as well as with agarose gels (AGIF) showed a distinctive difference. The enzyme from the Duarte variant resolved into at least two more activity bands at pH between 5.2 and 5.4. The accumulation of galactose-1-phosphate was observed only in homozygotes for classical galactosemia. Compound heterozygotes (G-D) without any clinical manifestations did not show an accumulation of galactose-1-phosphate. The isoelectrofocusing study of the enzyme in human tissues revealed their activity resolving into multiple bands, 6-8 bands at pH 5.50-6.00 and 1-3 bands at pH 4.9-5.2. No significant differences were found in the patterns between fetal and adult liver except that the intensity of the anodic bands (pH 4.9-5.2) was weaker in fetal tissues. Prenatal diagnosis of classical galactosemia was performed in nine families by measuring the enzyme activity in cultivated amniotic fluid cells. Absence of the enzyme activity in amniotic fluid cells was found in two cases, and in four cases the heterozygosity was diagnosed by a relative low enzyme activity, 30-50% of the activity in control cells cultured in parallel.

Amniotic Fluid↗
PubMed1983

Glycogen storage disease type Ib.

Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.

Antiporters↗
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

[Ethics in pediatric research].

As shown in this article there is a continuous change of the ethical code in the research on humans, and there are correlations between research, ethics and society at any given time. The application of ethical principles during experiments on children are discussed by four selected examples of the past and the present: vaccination against smallpox, vaccination against hepatitis B, metabolic mass screening of newborns, and bone marrow transplantation for children. Means are proposed, how ethical problems can be considered in pediatric research without unnecessary administrative expenditure.

Bone Marrow Transplantation↗
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↗
PubMed1981

Pseudohypoparathyroidism and hypocalcemic "myopathy". A case report.

A patient with the clinical features of pseudohypoparathyroidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.

Adolescent↗