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Biomedical subjects

R Eeckels

Publications and source records attributed to R Eeckels.

At least 37 records · Page 2Linked to original sources
PubMed1993

An initiation codon mutation as a cause of beta-thalassemia in a Belgian family.

Nine asymptomatic members of a family of Belgian origin, spanning three generations, present typical features of heterozygous beta-thalassemia. Since no mutation was detected with a large panel of oligonucleotide probes, the thalassemia gene was investigated by direct sequencing of DNA segments amplified by the polymerase chain reaction. A T-->C transition was detected in the translation initiation codon (ATG). The mutation, which abolishes an Nco I restriction site, was further confirmed by enzymatic digestion as well as by dot-blot hybridization of the amplified products with allele-specific oligonucleotide probes. It produced a beta zero-thalassemia phenotype characterized by marked microcytosis and hypochromia, as well as by an in vitro beta/alpha chain synthesis ratio close to O.5. Search for haplotype linkage showed the mutation to be associated with haplotype IX [- + - + + + +].

Base Sequence↗
PubMed1990

Persistent diarrhoea: clinical efficacy and nutrient absorption with a rice based diet.

Twenty six infant boys, aged 4 to 18 months, suffering from persistent diarrhoea and 25 age matched healthy controls without diarrhoea were given a diet based on rice powder, egg white, glucose, and soya oil. The clinical efficacy of the diet was studied and a 72 hour metabolic balance study was done. Twenty one patients recovered from diarrhoea within seven days. Median coefficients of absorption of nutrients in persistent diarrhoea patients were 68.0% (range 28.0 to 92.0) for total energy, 60.0% (range 21.0 to 97.0) for fat, 53.0% (range -122.0 to 82.0) for nitrogen, and 81.0% (range 23.0 to 97.0) for carbohydrates. The corresponding values among the control subjects were 90.0% (range 76.0 to 99.0), 95.0% (range 71.0 to 99.0), 70.0% (range 10.0 to 95.0), and 93.0% (range 85.0 to 98.0) respectively. Absorption of all macronutrients in the control subjects was on average significantly higher than in the patients. Nutrient absorption is substantially reduced in persistent diarrhoea and a rice based diet is clinically effective in most patients.

Bangladesh↗
PubMed1988

Cholera, rotavirus and ETEC diarrhoea: some clinico-epidemiological features.

This paper analyses a few selected features from the history and clinical examination of 1258 patients with acute diarrhoea and a single laboratory diagnosis of either cholera, rotavirus, or enterotoxigenic (ETEC) Escherichia coli infection. Age distribution and seasonality in Bangladesh were also studied. The duration of illness before admission was not significantly different in the 3 groups. Cholera occurred especially in the spring and early winter. Most cholera patients were between 3 and 10 years of age. Over 37% of the patients developed severe dehydration. In about 90% of cholera cases, the stools were alkaline (pH greater than 7). ETEC infections were seen mostly in April-May and September-October. Infants were frequently affected but from age 25 onwards the age distribution closely followed that of cholera. Severe dehydration occurred in 8.3% of patients and was more frequent than in rotavirus cases. Stool pH was as frequently acidic as basic. Rotavirus cases were concentrated during the winter in patients under 2 years of age. They had marked vomiting, yet severe dehydration was almost absent. Cough was present in half of them. The stools were usually acidic. In spite of considerable overlap of signs and symptoms between the 3 aetiological groups, a presumptive diagnosis of cholera could be made in patients past infancy and early childhood who showed very severe dehydration. However, age-specific prevalence was strikingly different and seasonal variations considerable.

Adolescent↗
PubMed1988

Heparin plus dipyridamole in childhood hemolytic-uremic syndrome: a prospective, randomized study.

From 1976 to 1985, a total of 58 infants and children with the hemolytic-uremic syndrome were randomly assigned to treatment either with heparin and dipyridamole or with supportive management only. In the treatment group, two patients died in the early weeks of the disease. Analysis of clinical and laboratory data showed no significant difference between either group of patients as to the evolution of their illness except for a significantly higher incidence of anuria and a significantly faster recovery from hypertension in the treated group. Renal biopsy studies showed no differences between the two groups in terms of incidence and severity of the histologic lesions. The long-term data on blood pressure and creatinine clearance values in the survivors were similar in both groups. This study indicates that treatment with heparin and dipyridamole has no benefit over symptomatic therapy alone in the typical form of childhood hemolytic-uremic syndrome.

Adolescent↗
PubMed1987

Characterization of Vibrio cholerae 01 recently isolated in Bangladesh.

91 strains of Vibrio cholerae O1, isolated in Bangladesh in January 1986, were examined for their biological behaviour and sensitivity to 6 antimicrobial agents. Biotyping indicated that 60 of the isolates belonged to the classical biotype and 31 to the El Tor biotype. 21 El Tor strains revealed beta-haemolysis on blood agar plates, but only 8 showed complete haemolysis in broth. Serotyping indicated 79 Ogawa, 10 Inaba, and 2 Hikojima. Phage typing showed that all classical vibrios belonged to Mukerjee's phage type 1. El Tor vibrios were classified into 4 groups: one strain each in type 1 and type 5, 19 in type 4, and 10 in an untypable group. Prophage typing of El Tor vibrios identified 14 strains of Ubol type, 16 of cured Celebes type, and one of original Celebes type. No strain was resistant to tetracycline, minocycline, chloramphenicol, streptomycin, amoxicillin or nalidixic acid. The classical vibrios differed from those isolated before 1973 in toxin production pattern.

Animals↗
PubMed1987

Rest versus heavy work during the last weeks of pregnancy: influence on fetal growth.

The influence of rest versus hard work on fetal growth at the end of pregnancy was assessed prospectively in a population of women who normally work hard during pregnancy. A group of 554 women living in Kalima area (Central Zaire) was admitted for rest in a maternity village for a median duration of 22 days. Self-selection, age, parity, number of living children, socio-economic status, maternal weight and height and gestational age were controlled for. Energy intake estimated in a sample of women in the maternity village and a sample of those staying at home was similar. Protein intake was found to be higher in the resting women. The duration of rest had a strong influence on birth-weight and length in the newborn females but to a lesser extent in the newborn males. There was a 7.5-fold decrease in the rate of low birth-weight in girls when the duration of maternal rest was greater than 21 days. In boys the low-birthweight rate remained unchanged. Although this sex difference could not be explained it is concluded that, in developing countries, avoidance of heavy work can help to raise birthweight and perhaps reduce perinatal mortality.

Adult↗
PubMed1986

Nutritional anthropometry in children from 0 to 6 years of age in different geographical areas.

Anthropometric data of 12,769 clinically normal children 0-6 years of age from 12 different geographical areas in Africa and Asia are presented. Height, weight, arm circumference and triceps skinfold thickness were measured and presented for age. Derived variables, as muscle circumference, muscle area and muscle proportion-for-age were computed. Weight, arm circumference and muscle area-for-height were calculated. Comparison of these 12 cross-sectional growth patterns shows important differences between groups. The observed differences show that height-for-age, weight-for-age, arm circumference-for-age and weight-for-height are not sufficient to describe adequately and to interpret the variations in nutritional status.

Africa↗
PubMed1986

Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characterized by a peculiar craniofacial dysmorphism and hoarseness of the voice, which allow early clinical suspicion. The variability in clinical and radiological findings and the differences in prognosis indicate that this syndrome probably covers at the present time a heterogeneous group of different conditions.

Bone Diseases, Developmental↗
PubMed1985

Congenital folate malabsorption.

A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.

Anemia, Macrocytic↗
PubMed1985

Arm muscle and fat in the evaluation of nutritional status. A study of African pre-school children in three different environments.

Anthropometric variables were collected in 10230 clinically healthy children under 5 years of age. The children belong to three African tribes living in different environments. The conventional anthropometric methods of screening children nutritionally at risk were used and their validity is scrutinised. It is shown that, to assess nutritional condition, arm muscle area and arm fat area add essential information to data on weight-for-age, weight-for-height and arm circumference-for-age. It is suggested that the choice of anthropometric methods and standards must be adapted to the ecological situation.

Adipose Tissue↗
PubMed1985

A boy with acromesomelic dysplasia. Growth course and growth hormone release.

A 2 6/12-year-old boy is reported with the typical clinical and radiological features of acromesomelic dysplasia. This rare skeletal dysplasia is inherited as an autosomal recessive trait, and differential diagnosis is to be made with pseudoachondroplasia and acrodysostosis. Endocrine investigations were performed, and their results are found to be normal. Longitudinal growth reveals a very early slowing down of growth velocity.

Blood Glucose↗
PubMed1984

Bloom's syndrome. Possible pitfalls in clinical diagnosis.

We treated two patients with Bloom's syndrome and conducted extensive endocrine studies. In one patient, we studied longitudinal growth and pubertal development and the effect of exogenous human growth hormone on growth velocity. Establishing a diagnosis of Bloom's syndrome is difficult in clinical practice. Measurement of the frequency of sister chromatid exchanges is essential in patients with growth retardation of intrauterine origin.

Adolescent↗
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

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↗