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Biomedical subjects

B Weber

Publications and source records attributed to B Weber.

At least 361 records · Page 20Linked to original sources

A 45,X male with Y-specific DNA translocated onto chromosome 15.

A 20-year-old male patient with chromosomal constitution 45,X, testes and normal external genitalia was examined. Neither mosaicism nor a structurally aberrant Y chromosome was observed when routine cytogenetic analysis was performed on both lymphocytes and skin fibroblasts. Y chromosome-specific single-copy and repeated DNA sequences were detected in the patient's genome by means of 11 different recombinant-DNA probes of known regional assignment on the human Y chromosome. Data indicated that the short arm, the centromere, and part of the long-arm euchromatin of the Y chromosome have been retained and that the patient lacks deletion intervals 6 and 7 of Yq. High-resolution analysis of prometaphase chromosomes revealed additional euchromatic material on the short arm of one of the patient's chromosomes 15. After in situ hybridization with the Y chromosome-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 chromosomal translocation. We conclude that some 45,X males originate from Y-chromosome/autosome translocations following a break in the proximal long arm of the Y chromosome.

Adult↗

To a day care surgical hospital (III). Influence of two anesthetic techniques on some appraisal criteria of the Newman test.

Fourty four young male patients, anesthetised to undergo common peripheral surgery, performed the Newman test during pre-anesthetic consultation, then again 2 h. 30 and 3 h. 30 after induction of anesthesia and, if possible, 3 days later. Five different criteria of analysis were selected to rate the drawing. These criteria were compared either on an individual basis or altogether with the Student "t" test. The anesthetic and surgical modes were comparable, except for the anesthetic drug used, either a combination of fentanyl-Gamma hydroxybutyric acid (GHB) for 22 patients or a combination of fentanyl-diazepam for the remaining 22. There was no significant difference between any of the criteria used except for the time duration to perform the test which was less in the GHB group 2 h. 30 min. after induction. This result supports a comparative study of the Newman test after other anesthetic inductions.

Adult↗

[Kala-azar with marked ferritinemia in a German school child].

We report on a case of visceral leishmaniasis acquired during a summer holiday in Spain. Apart from therapeutic aspects some mechanisms for the development of anaemia are discussed with regard to changes of the red blood cell counts, serum iron and ferritin concentrations measured before, during and after therapy.

Anemia, Hypochromic↗

Automated liquid chromatographic determination of the 20-dihydro isomers of cortisol and cortisone in human urine.

A fully automated method for the simultaneous assessment of cortisol, cortisone and their 20-dihydro isomers in human urine is described. On-line sample enrichment, prepurification, focusing and injection are combined with automated high-performance liquid chromatographic separation and quantification. Losses of steroids throughout the total procedure are negligible. Thus, external calibration is feasible for quantification. Coefficients of variation range between 8.7 and 17.0% for inter-assay variability and between 1.3 and 5.2% for intra-assay variability. Assay sensitivity is 15 nmol/l. In normal students, the medians of the relative excretion rates of free 20 alpha-dihydrocortisol, 20 alpha-dihydrocortisone, 20 beta-dihydrocortisol and 20 beta-dihydrocortisone were 10.9, 6.1, 7.7 and 4.4 mumol/mol creatinine. The fully automated feature renders the present method well suited for routine diagnosis of hypercorticoidism.

Autoanalysis↗

Early O-glycosidic glycosylation of proglucagon in pancreatic islets: an unusual type of prohormonal modification.

Proglucagon from rat islets is identified as a glycoprotein by its binding to soybean lectin and by the biosynthetic incorporation of [14C]galactosamine. Glycosylation can be demonstrated for both forms of proglucagon, i.e. the primary translation product which is detectable as early as 30 s after incubation of isolated islets with radioactive amino acids (proglucagon a), and its conversion product of slightly higher electrophoretic mobility which is formed after 5-10 min of incubation (proglucagon b). This glycosylation is determined to be of the O-glycosidic type by the following criteria: rat proglucagon has previously been shown to lack an acceptor sequence for N-glycosidic linkage of sugars, the sugar bond in rat proglucagon is labile under mild alkaline conditions, glycosylated serine is demonstrated in proteolytic lysates of both the early and the late form of this prohormone. O-glycosidic linkage of sugars has not been reported for other prohormones. Its early formation and the apparent absence of N-glycosidically bound sugars in proglucagon give evidence for an unusual type of protein glycosylation.

Animals↗

A 45,X male with a Yp/18 translocation.

A patient described as a 45,X male (Forabosco et al. 1977) was examined for the presence of Y-specific DNA by using various probes detecting restriction fragments from different regions of the Y chromosome. Positive hybridization signals were obtained for Yp fragments only. In situ hybridization with two different probes, pDP31 and the pseudoautosomal probe 113F, led to a clear assignment of the Yp sequences to the short arm of one chromosome 18. Cytogenetically, the presence of all of Yp including the Y centromere on 18p could be demonstrated replacing a segment of similar size of 18p. Thus, the Y/18 translocation chromosome is dicentric structurally, but it was shown to be monocentric functionally with the no. 18 centromere active. Gene dosage studies with the probe B74 defining a sequence at 18p11.3 demonstrated a single dose of this sequence in the patient. In agreement with these observations, the patient shows clinical signs of the 18p-syndrome. It is concluded that in XO males in general, the X is of maternal origin while the maleness is due to a de novo Y/autosome translocation derived from the father. Depending on the nature of the autosomal deficiency caused by the Y/autosome translocation, the patient may have congenital malformations.

Child↗

Prevalence and development of retinopathy in children and adolescents with type 1 (insulin-dependent) diabetes mellitus. A longitudinal study.

In 231 subjects with Type 1 diabetes mellitus aged 17.6 +/- 4.0 years, with a diabetes duration of 8.5 +/- 4.9 years at the end of the study, the prevalence and the development of retinopathy during a period of 5 years were studied. All patients were examined between one and six times both by ophthalmoscopy and fluorescein angiography. A total of 626 fluorescein angiographies were evaluated. By the end of the study, 109 out of 231 patients (47%) had developed retinal changes, half of which were classified as minimal (less than 5 microaneurysms). Thirty-eight patients (35% of those affected) had background (n = 28) or proliferative (n = 10) retinopathy. In subjects less than 15 years of age and diabetic for less than 5 years, retinal lesions were rare. With increasing age and duration of diabetes, both the prevalence and severity of retinal changes increased markedly. Life-table analysis was used to calculate the median individual risk for the development of early retinal changes, which was 9.1 years of diabetes duration. This risk differed in sub-groups with different ages at onset of diabetes, i.e. 12.1, 8.9 and 6.6 years (p less than 0.0001), with diabetes starting below 4, between 5 and 9, and after 10 years of age respectively. After 18 years of diabetes, every patient demonstrated at least incipient structural changes. Fluorescein angiography allowed the detection of retinopathy, on average, four years earlier than with ophthalmoscopy. The median interval between the 'onset' of retinopathy, as indicated by a few microaneurysms, and background retinopathy was 5 years.

Actuarial Analysis↗

Risk factors for the development of retinopathy in children and adolescents with type 1 (insulin-dependent) diabetes mellitus.

In our preceding paper, the prevalence and development of retinopathy in 231 Type 1 diabetic children and adolescents were reported to be associated with the duration of diabetes and its age at onset. This paper analyses the relationships between the development of retinopathy and the following factors: age, sex, puberty, blood pressure, insulin dosage, HLA antigens, long-term glycaemic control, and serum cholesterol and triglycerides. All these variables were longitudinally evaluated in a cohort of 322 insulin-dependent patients aged 16.2 +/- 4.9 years with diabetes for 7.4 +/- 5.2 years, including those 231 subjects whose eyes were examined once or repeatedly by ophthalmoscopy and fluorescein angiography. Long-term glycaemic control from the onset of diabetes to the retinal examination was assessed by both an arbitrary score comprising different parameters and by mean values of glycosylated haemoglobin, and was categorised as good, fair, and poor. With life-table analysis, the overall median individual risk for developing early retinal changes (9.1 years) was found to be significantly influenced by glycaemic control. Minimal lesions developed earlier (8.0 years) with poor control, but later with fair (10.5 years) and good glycaemic control (12.5 years) (p less than 0.01). Mean HbA1 values below 10% delayed the onset of both incipient (10.8 years) and background retinopathy (16.6 years), while values above 10% advanced it (8.0 and 11.8 years respectively) (p less than 0.05 and less than 0.008). By multivariate regression and stepwise discrimination analyses, only 4 out of 14 variables were found to exert significant independent influences on the development of retinopathy: diabetes duration, long-term glycaemic control, serum triglycerides and age.(ABSTRACT TRUNCATED AT 250 WORDS)

Actuarial Analysis↗

Determination of ciprofloxacine, norfloxacine, and ofloxacine by high performance liquid chromatography.

A fast, versatile and precise method is described for the determination of quinolone derivatives in biological fluids and tissues by high performance liquid chromatography (HPLC) and fluorescence detection. Using a solvent consisting of acetonitrile/methanol/water/tetrabutylammoniumhydroxide (pH 3.0) and reversed phase material (5C18), ciprofloxacine, norfloxacine and ofloxacine were identified within 10 min, with a detection limit of 10 pg (ofloxacine 40 pg). No interference with other substances was observed. The sample preparation needs only one dilution and centrifugation step (recovery in blood, serum and urine about 100%). Ciprofloxacine, norfloxacine and ofloxacine are not degraded when incubated at 4 degrees C or 37 degrees C for 24 h in serum and urine. In heparinized blood ofloxacine remains stable, whereas a decrease of 25% (ciprofloxacine) and 30% (norfloxacine), respectively, is observed after 24 h at 37 degrees C without the formation of fluorescent metabolites. In serum and urine of treated patients, however, metabolites are detected. These findings suggest a metabolization process in organs, e.g. the liver.

Chromatography, High Pressure Liquid↗

An evolutionary conserved early replicating segment on the sex chromosomes of man and the great apes.

Replication studies on prometaphase chromosomes of man, the chimpanzee, the pygmy chimpanzee, the gorilla, and the orangutan reveal great interspecific homologies between the autosomes. The early replicating X chromosomes clearly show a high degree of conservation of both the pattern and the time course of replication. An early replicating segment on the short arm of the X chromosomes of man (Xp22.3) which escapes inactivation can be found on the X chromosomes of the great apes as well. Furthermore, the most early replicating segment on the Y chromosomes of all species tested appears to be homologous to this segment on the X chromosomes. Therefore, these early replicating segments in the great apes may correspond to the pseudoautosomal segment proposed to exist in man. From further cytogenetic characterization of the Y chromosomes it is evident that structural alterations have resulted in an extreme divergence in both the euchromatic and heterochromatic parts. It is assumed, therefore, that, in contrast to the X chromosomes, the Y chromosomes have undergone a rapid evolution within the higher primates.

Animals↗

Annual progression of retinopathy in conventionally treated children and adolescents with type I diabetes mellitus.

In a cohort of 268 type I diabetic patients, aged 19.6 +/- 4.1 years (Mean +/- 1 SD), with a diabetes duration of 10.4 +/- 4.9 years, treated by the same team, using the same conventional treatment regime during the total observation period, the progression rate of early retinopathy within the first two decades of diabetes was deduced from observed transitions of the retinal status from one stage of retinopathy (as defined by fluorescein angiography) to a higher one (Malone et al., 1977) within one year. A total number of 83 such events were evaluated. After a gradual development of earliest changes within the fifth year of diabetes, the median annual rate of progression was found to be 12-13%, independent of the previous duration of diabetes and the actual retinal state.

Adolescent↗

Measurement of urinary free 20 alpha-dihydrocortisol in biochemical diagnosis of chronic hypercorticoidism.

Using liquid chromatography, we estimated the urinary excretion of 20 alpha-dihydrocortisol (20-DH) and urinary free cortisol (UFC) in normal subjects and in 40 patients with Cushing's syndrome of different etiologies. The median normal excretion rate (nmol/24 h) was 174 for 20-DH and 68 for UFC, the 20-DH/UFC ratio thus being 2.55. For patients with Cushing's syndrome, the excretion rate was 1798 for 20-DH and 298 for UFC, the ratio 6.03. We evaluated the effect of acute stimulation of adrenal secretion on 20-DH and UFC by administering corticotropin to six normal subjects. After such stimulation, the excretion rate was 566 for 20-DH and 1238 for UFC (ratio 0.45). Whereas 20-DH excretion rate exceeded the normal range in all patients, six patients had normal or even below-normal values for UFC excretion. Evidently, measurement of urinary 20-DH is a better test for chronic hypercorticoidism than is measurement of urinary UFC, and chronic hypercorticoidism can be differentiated from the acute state by the 20-DH/UFC ratio.

Adrenocorticotropic Hormone↗

Urinary excretion rates of 15 free steroids: potential utility in differential diagnosis of Cushing's syndrome.

To evaluate their potential usefulness in the differential diagnosis of Cushing's syndrome, we estimated the urinary excretion rates of the following non-metabolized, unbound steroid hormones: pregnenolone, progesterone, 17-OH-pregnenolone, 17-OH-progesterone, dehydroepiandrosterone (DHEA), androstenedione, testosterone, dihydrotestosterone, 11-deoxycorticosterone, 11-deoxycortisol, corticosterone, cortisol, 18-OH-11-deoxycorticosterone, 18-OH-corticosterone, and aldosterone. These were measured in normal subjects and in patients with Cushing's disease, adrenal adenoma, or ectopic corticotropin syndrome. We used "high-performance" liquid chromatography and subsequent radioimmunoassay. Our results indicate that simultaneous estimation of urinary free cortisol and DHEA may be useful in differential diagnosis of hypercorticoid states due to adrenal adenoma and Cushing's disease.

ACTH Syndrome, Ectopic↗

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.

A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.

Adult↗