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Biomedical subjects

J Jaeken

Publications and source records attributed to J Jaeken.

At least 181 records · Page 10Linked to original sources
PubMed1985

Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome).

The Zellweger or cerebro-hepato-renal syndrome (CHRS) is a congenital disorder characterized by cerebral dysfunction, craniofacial dysmorphic features, transient cholestasis and renal cysts. Patients fail to thrive, and usually die in their first year of life. In some cases, a definite diagnosis on purely clinical signs might not be possible. Several biochemical abnormalities have been observed in these patients and some of them have been tested as diagnostic markers. The aim of this study is to evaluate bile acid metabolites as biochemical markers of the CHRS. From a study of 20 CHRS patients, we conclude that screening for the presence of coprostanic acids and the C-29 dicarboxylic bile acid in serum or urine is for detection of CHRS and confirmation of the diagnosis.

Bile Acids and Salts↗
PubMed1984

An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.

Succinyladenosine and succinylaminoimidazole carboxamide riboside were found in body fluids from 3 children, including a brother and sister, with severe psychomotor delay and autism. Both succinylpurines were identified by acid hydrolysis, anion-exchange chromatography, and ultraviolet spectrophotometry. Concentrations of both compounds were around 100 mumol/l in cerebrospinal fluid, between 5 and 10 mumol/l in plasma, and in the mmol/l range in urine. Succinylpurines were undetectable in cerebrospinal fluid and plasma from controls but there might be trace amounts in normal urine. The compounds are dephosphorylated derivatives of the intracellular metabolites adenylosuccinate and succinylaminoimidazole carboxamide ribotide, the two substrates of adenylosuccinase (adenylosuccinate lyase, EC 4.3.2.2). Their presence indicates a deficiency of this enzyme, which is involved in both de novo synthesis of purines and the formation of adenosine monophosphate from inosine monophosphate. Assays in one patient revealed markedly decreased adenylosuccinase activity in the liver and absence of activity in the kidney. The accumulation of both succinylpurines in the cerebrospinal fluid suggests that there is also a deficiency of this enzyme in the brain and that it may be the basic defect in a subgroup of children with genetically determined autism.

Adenosine↗
PubMed1984

Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.

Cerebrospinal fluid aminoacid analysis in a girl with severe psychomotor retardation, hypotonia, hyperreflexia and growth acceleration showed highly increased levels of free gamma-aminobutyric acid (4.8 mumol/l; range in twenty controls 0.04-0.12, median 0.08), homocarnosine, a dipeptide of gamma-aminobutyric acid and histidine (23.4 mumol/l; control range 4.0-8.7, median 7.6) and of beta-alanine, an alternative substrate for gamma-aminobutyric acid-transaminase (0.48 mumol/l; control range 0.02-0.06, median 0.05). Liver gamma-aminobutyric acid-transaminase activity was deficient (0.07 mumol/mg protein h; range in ten controls 0.31-0.69, median 0.38). Fasting plasma growth hormone levels were increased (7.9-38.4 ng/ml; nl less than 5). Brain evoked responses were suggestive of leukodystrophy. A brother of this patient, showing a similar clinical picture, had died at one year. Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency.

4-Aminobutyrate Transaminase↗
PubMed1984

Serum thyroglobulin levels in preterm neonates.

Serum thyroglobulin (Tg) levels were determined in preterm neonates. Very high values were found at birth. A significant negative correlation was observed between Tg levels and gestational age. A longitudinal study indicates that a very sharp decrease in Tg levels occurred after birth. Three weeks after birth, the values were close to the values of full-term neonates. These high hTg values could result either from an increased turnover of hTg or from a lower clearance rate of this iodoprotein.

Gestational Age↗
PubMed1984

The thyroid-system function in preterm infants of postmenstrual ages of 31 weeks or less: evidence for a "transient lazy thyroid system".

A prospective study was conducted in order to evaluate thyroid function in 20 healthy and 18 sick preterm infants with postmenstrual ages of 31 weeks or less. The clinical condition of both groups was compared using a "Neonatal Special Care Evolution Score". The effect of thyroid hormone treatment, given from D10 on to the sick infants, was also studied. TSH, thyroid hormone levels (TG, T4, T3, rT3, FT4 and FT3) and TBG were measured by radioimmunoassays at D0, D10, D20, D30 and D40. Healthy preterm infants on D0 have a median TSH level of 22 microU/ml and a high TG level of 200 ng/ml; thereafter, median serum levels decrease to 6 microU/ml and 35 ng/ml respectively. During the same period, median serum T4 is maintained at a low level of about 6-8 micrograms/dl, median serum T3 gradually increases from 80 ng/dl on D0 to 150 ng/dl on D40, and median serum rT3 decreases beyond D10 from a plateau of 200 ng/dl to about 100 ng/dl. In the sick preterm infants before treatment, serum TSH is as in the control group but serum T4, T3 and rT3 on D10 are well below the control values (P = 0.005). In all conditions, there is a significant correlation between serum T4 and FT4, and between serum T3 and FT3. Thyroxine, given to the sick preterm infants from D10 on, brings median serum T4 values closely to the ones of the control group whereas serum levels of TSH and TG are unaffected and similar to those of the healthy preterm infants. Furthermore, thyroxine brings serum rT3 within the range of the control group but leaves median serum T3 at a low level of about 50 ng/dl. On T3 treatment, serum T3 normalizes but rT3 and particularly T4 tend to decline further. In the conditions of this study a significant difference in TBG level is not proven. Although an untreated sick group was not enrolled in the study, thyroid hormone treatment brought the "Neonatal Special Care Evolution Score" of the treated sick infants closer to that of the healthy preterm infants. In the sick preterm infant with failure to thrive on D10, there is an impaired thyroid discharge of T4 in spite of serum TSH values not different from those of the control group.(ABSTRACT TRUNCATED AT 400 WORDS)

Age Factors↗
PubMed1983

Diagram for easy volume setting of an infant ventilator.

A pressure-volume diagram with isocompliance lines allows quick, accurate volume setting of the piston-driven infant ventilator Bourns LS. A line parallel with the machine compliance line and an intercept on the ordinate equal to the tidal volume, serves as a guideline for initial volume setting and subsequent adaptation according to the patient's lung compliance. This diagram is particularly useful when the lung compliance is low; changes consistently during controlled ventilation.

Bronchopulmonary Dysplasia↗
PubMed1983

[Neonatal hyperammonemia].

Experience with severe neonatal hyperammonaemia in the Newborn Intensive Care Unit of the Leuven University Hospital is reported and compared with the literature data. Among eleven patients seven presented with the transient neonatal hyperammonaemia-syndrome and four with a urea cycle defect. Prompt recognition of the transient neonatal hyperammonaemia syndrome is important because its prognosis is much better than that of the primary urea cycle defects presenting in the neonatal period.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency.

Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9, and 16 with multibranching.

Cells, Cultured↗
PubMed1981

Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease.

A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.

Adolescent↗