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Biomedical subjects

H Lubs

Publications and source records attributed to H Lubs.

At least 19 recordsLinked to original sources
PubMed1992

Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome.

Cytogenetic data from the United States NICHD collaborative study of chorionic villus sampling (CVS) were used to evaluate the clinical significance of chorionic mosaicism. The 10,754 patients with normal cytogenetic results were compared with 108 patients (1.0 per cent) with placental mosaicism and 181 patients (1.6 per cent) with pseudo-mosaicism. Of the pregnancies intended to continue, the pregnancy loss rate was significantly greater in patients with placental mosaicism than in the cytogenetically normal cohort (8.6 vs. 3.4 per cent, p less than 0.05). However, there was no difference in the frequencies of abruptio placenta, preterm labour or delivery, small-for-gestational-age newborns, pregnancy-induced hypertension, or neonates with Apgar scores less than 7.

Abortion, Spontaneous↗
PubMed1992

Risk factors associated with transcervical CVS losses.

Factors found to be associated with pregnancy loss after transcervical CVS were race (higher for non-white), history of spontaneous abortion, unplanned pregnancy, history of spotting or bleeding during the pregnancy prior to CVS, and placental position (higher for fundal or lateral locations). Whether the increase in loss risk is due to the factor, per se, or the factor plus the CVS cannot be determined due to the lack of appropriate control data.

Adult↗
PubMed1988

The serum amino acid spectrum of insulin-dependent diabetics and controls from Ethiopia.

The serum amino acid spectrum was examined in healthy men and insulin-dependent diabetics from Ethiopia. Comparison of serum amino acids of controls from Gondar with Ethiopians after adaptation to a free European diet revealed a marginal low protein nutrition, but not the characteristic changes of malnutrition or experimental starvation. There was no apparent nutritional deficiency of sulphur-containing amino acids in Ethiopians. Insulin-dependent diabetics showed significantly elevated serum levels of BCAA indicating an accelerated protein catabolism in recent-onset insulin-deficient patients and known diabetics respectively, most of them in poor metabolic condition. Serum glutamine levels were reduced, suggesting a considerable renal contribution to the hyperglycaemia/glucosuria of diabetics. The data may be best explained by the low residual insulin secretion at diabetes onset or by the poor degree of metabolic control of known Ethiopian diabetics.

Adult↗
PubMed1988

Variable expressivity of neurofibromatosis-1 in identical twins.

Monozygotic twins with Neurofibromatosis-1 (NF-1) who have both concordant and discrepant clinical manifestations are reported. At 7 years of age, both twins were found to have learning disabilities, poor fine and gross motor skills, but different distributions of café-au-lait spots, axillary freckling, and iris Lisch nodules; only twin A was found to have multiple neurofibromas involving the mesentery. Manifestations of mesenteric neurofibromas have not been reported previously to occur this early in childhood; they are an unusual presenting feature of NF-1.

Child↗
PubMed1988

[Distribution of cystinuria subtypes in the Democratic Republic of Germany].

The classic cystinuria is a hereditary disorder characterized by a defective transport of cystine and the dibasic amino acids arginine, lysine and ornithine in the epithelial cells of the renale tubule and the gastrointestinal tract. The excretion patterns of cystine and the dibasic amino acids in 24-hour urine samples from heterozygotes can be used to the differentiation between the genetic subtypes. 120 probands in the age range from 3 to 70 years from 22 families with cystinuria were investigated by thin-layer chromatography and by ion exchange chromatography. In patients with cystinuria the genotype I-I has a frequency of 50%. These results and the distribution of the other subtypes are in accordance with published data. From 98 persons investigated in 22 families with cystinuria 14 run the risk to form cystine stones. Therefore, the knowledge of the subtypes is relevant for practice.

Adolescent↗
PubMed1987

Serum free amino acids of healthy males and pregnant women from Ethiopia.

Several clinical, anthropometric and biochemical parameters have been used for the evaluation of the nutritional status and diagnosis of protein-energy malnutrition [1]. Analysis of the complete serum amino-acid spectrum by ion-exchange chromatography provides valuable information on the adequacy of protein intake and on the metabolic response to protein depletion in undernourished subjects. However, the serum aminogram is quite differently affected by acute or chronic starvation or the great variety of starchy but low-protein foods and further toxic factors (e.g. mycotoxins) leading to kwashiorkor. Thus, very complex alterations of the serum amino-acid spectrum had to be expected [5, 9] and stimulated the present investigation for reference purposes. We report the results of amino acid determinations in apparently healthy adult males and pregnant women taking the traditional Ethiopian diet. For want of a better evaluation of the specific nutritional influence, we also collected data on serum amino acids of healthy Ethiopians consuming an average European diet.

Amino Acids↗
PubMed1987

Ketosis, serum carnitine and its precursor amino acids in normal and diabetic ethiopians.

In a hospital-based study in northwestern Ethiopia some clinical and biochemical features of diabetes mellitus have been assessed to contribute to the problem of classification of diabetes in a tropical country. Diabetes requiring primary insulin treatment is presented by unequivocally elevated blood glucose levels and the classic symptoms of the disease. Newly discovered cases and readmitted rural diabetics show significantly lower body mass indices and 31% have been classified as underweight. The overall frequency of ketonuria at (re)admission was 45% together with moderately elevated or high 3-hydroxybutyrate serum concentrations. The hormonal status is characterized by a reduced beta-cell function. Serum concentrations of all carnitine fractions are lower in both normal and diabetic Ethiopians when compared with Caucasoids. Carnitine precursor amino acids are normal and the complete amino acid spectrum reveales no clear-cut pattern related to protein-energy malnutrition.

Acidosis↗
PubMed1984

A large kindred with X-linked mental retardation, marker X and macroorchidism.

Thirty-eight members of a black kindred with mental retardation and the Marker X were studied. Ten of 14 affected males, 6 of 6 affected females, 18 carriers or possible carriers, and 7 normal males were examined. Eight of 9 affected males who could be measured had macroorchidism, but their ears and mandibles were not prominent. No distinct facies were evident, although minor anomalies, such as a slight pectus, were present in some. Clinical diagnosis in the absence of a strongly positive family history may be even more difficult among prepubertal black children than in whites. The risk of retardation among children of carriers was estimated at 20-40%.

Abnormalities, Multiple↗
PubMed1983

[Homocystinuria].

It is reported on a female patient with a classical homocystinuria who showed all typical symptoms of the cystathionine-synthesis-insufficiency, such as tall stature, phacetomy, arachnodactyly, kyphoscoliosis, generalized osteoporosis and thromboembolisms. While homocystin in the blood plasma and the urine could be proved only in the patient, the concentration of plasma methionine was much increased also in the clinically completely inconspicuous sister.

Adult↗
PubMed1983

Changes of the plasma tryptophan to neutral amino acids ratio in formula-fed infants: possible effects on brain development.

The ratio of plasma concentrations of tryptophan to the sum of neutral amino acids (valine, isoleucine, leucine, phenylalanine and tyrosine) was found to be significantly lower in formula-fed infants as compared to breast-fed infants and to newborns at birth. This tryptophan to neutral amino acids ratio in the blood is thought to control the synthesis of serotonin in the brain. Serotonin deficiency in the developing brain based on a decreased plasma tryptophan to neutral amino acids ratio may contribute to developmental obesity and/or permanent changes of mental capacity and social adaptability as observed in human subjects who had been formula-fed as compared to those who had been breast-fed in neonatal life.

Amino Acids↗
PubMed1977

[Results of oral methionine loads in normal subjects and patients with liver diseases using an analyzer short program].

Control subjects and patients with liver diseases (cirrhosis, fatty liver) were given an oral methionine load with 100 mg L-Met/kg body weight. Amino acid chromatography was made by a short-program particularly suitable for the diagnosis of hereditary disorders of methionine metabolism. Met-tolerance in blood plasma as well as cystathionine, homocystine and the mixed disulfide homocysteine-cysteine in plasma and urine were investigated. Methylmalonic acid excretion in the urine was determined by gas chromatography. Patients with liver diseases showed some pathological changes of methionine tolerance after the load. However, cystathionine and homocysteine could not be demonstrated. No methylmalonic acid excretion occurred in normal subjects and patients with liver diseases after the methionine load.

Adolescent↗