PubMed Health⌕ Search

Biomedical subjects

M Dreyer

Publications and source records attributed to M Dreyer.

At least 37 records · Page 2Linked to original sources
PubMed1996

Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.

Congenital lipodystrophy (MIM 269700), persistent Müllerian ducts (MIM 261550), and vitamin D resistant rickets (MIM 277440) were observed in an 8 1/2-year-old boy born to consanguineous parents. Measurements of hormone sensitive lipase activity from a sample of the suprapubic fat depot were normal. Although the insulin receptor appeared normal (including autophosphorylation), insulin action, assessed by induction of total mRNA, was decreased. The vitamin D receptor was normal in size and amount, with a slight decrease in affinity for 1,25(OH)2D3. Induction of 24-hydroxylase, used as a measure of responsiveness to 1,25(OH)2D3, was only mildly defective. Assessment of anti-Müllerian hormone (AMH) failed to show any abnormalities explaining the persistent Müllerian ducts. We speculate that a defect in general hormone action common to 1,25(OH)2D3, insulin, and AMH may exist in this patient although we can not exclude the unlikely possibility that he is homozygous for two or three individually rare mutations.

Adult↗
PubMed1995

Two mutant alleles of the insulin receptor gene in a family with a genetic form of insulin resistance: a 10 base pair deletion in exon 1 and a mutation substituting serine for asparagine-462.

Mutations in the insulin receptor gene cause several genetic syndromes associated with extreme insulin resistance. We have studied three insulin resistant siblings with acanthosis nigricans, dental abnormalities, and acral hypertrophy. The female patient also had primary amenorrhea due to hyperandrogenism. All three patients were compound heterozygotes with two mutant alleles of the insulin receptor gene. One allele had a 10-bp deletion in the region of exon 1 encoding the hydrophobic signal peptide; this leads to a frameshift and premature chain termination at codon 61. The deletion occurs at the site of a direct repeat of a hexanucleotide sequence interrupted by a tetranucleotide sequence; the deletion may have resulted from recombination between the upstream and downstream hexanucleotide repeats. In the other mutant allele, there is a missense mutation substituting serine for Asn462-a mutation identified previously in one allele of the insulin receptor gene in a patient with type-A insulin resistance. The Ser462 mutation impaired the ability of acidic pH to dissociate insulin from the receptor. Thus, Thus, like the previously described Glu460 mutation, the Ser462 mutation may retard dissociation of insulin from the receptor in the acidic compartment of the endosome and may, as a result, accelerate the rate of receptor degradation.

Alleles↗
PubMed1993

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.

We have studied the structure and function of the insulin receptor in a patient (PK) with severe insulin resistance and Rabson-Mendenhall syndrome. Insulin binding to cultured fibroblasts from PK was almost not detectable and insulin-induced insulin receptor autophosphorylation and glucose uptake was abolished. The structure of the receptor gene was analysed by sequencing amplified products of the 22 exons with the flanking intron regions directly as well as after subcloning in pUCBM20 plasmids. Two mutant alleles of the insulin receptor gene were detected. One allele contains in-frame 12 additional base pairs in exon 3 coding for the amino acids Leu-His-Leu-Val located between Asp-261 and Leu-262 in the receptor's extracellular domain, being the first report of an insertion mutation of the insulin receptor gene. In the other allele Arg-86 in exon 2 is changed into a stop codon. Therefore, PK is compound heterozygous at the insulin receptor locus. Direct cDNA sequencing indicates that both mutant alleles are expressed in the patient's fibroblasts. Studies of the parents' fibroblasts revealed that PK inherited the insertion mutation from the father and the nonsense mutation from the mother. Insulin binding to fibroblasts of the mother was reduced (63% of control cells) and hormone binding to the father's cells shows a larger reduction (37% of control cells), but less severe than the patient's cells (11% of control). This investigation provides further evidence that the Rabson-Mendenhall syndrome is causally related to mutations in the insulin receptor gene.

Amino Acid Sequence↗
PubMed1992

Autosomal dominant insulin resistance syndrome due to postbinding defect.

We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated RNA synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.

Acanthosis Nigricans↗
PubMed1992

[Stages of grief in coping with diabetes?].

Forms of coping with diabetes were determined on the basis of self-ratings of emotions (depressive, sad, angry, anxious) and responses on a 30-item "stages of grief" questionnaire by 52 inpatients aged between 25 and 50 (diabetes duration 1 to 35 years) at the beginning of a 12 day diabetes education program. Psychometric qualities of the instruments were evaluated. To test empirically the notion of grief stages in coping with diabetes, the frequency of emphasis on one or more emotional areas or stages of grief was determined and tested to ascertain whether various conditions occurred more frequently than was expected by chance. Results indicated that shortly after diabetes manifestation scores on protest and depression with respect to diabetes were elevated. The majority of cases could not be assigned to a single emotion or stage of grief but displayed negative emotional reactions in different content areas simultaneously. Consequently the concept of grief stages for coping with diabetes as well as recommendations based on this concept are questioned.

Adaptation, Psychological↗
PubMed1992

[Absolute bioavailability of beta-acetyldigoxin from tablets and drops in healthy subjects].

In a crossover design in random order 12 healthy male volunteers were given either beta-acetyldigoxin (Novodigal, CAS 5511-98-8) tablets, oral solution or i.v. application at a digoxin equivalent dose of 0.284 mg. To reach steady state each preparation was given for 10 days on a once-daily schedule. On days 8, 9 and 10 of each observation period blood was sampled to determine trough concentrations of digoxin in steady state. In addition, on day 10 blood was collected repeatedly at appropriate time intervals and urine was sampled concomitantly for 24 h. Trough values during steady state and 24 h AUC were used to calculate digoxin bioavailability for tablets and oral solution. From trough values, the mean bioavailability for beta-acetyldigoxin tablets was 91.2% (range 73.1-118.1) and for solution 93.8% (range 65.7-114.8). Using the AUCs 0-24 h at steady state bioavailability was calculated 77.7% for the tablets and 84.5% for the solution. Since trough values in steady state represent the body burden of digoxin which is supposed responsible for the therapeutic effect, trough values should be given priority for the determination of digoxin bioavailability from beta-acetyldigoxin tablets and solution. All formulations were well tolerated. No clinically relevant side effects were observed.

Acetyldigoxins↗
PubMed1992

[Stomach tolerance of various fluoride preparations. An endoscopy controlled single-blind study of healthy probands].

In 12 healthy volunteers the gastro-duodenal damaging effects of Ossiplex retard tid, Mono-Tridin tid and Ossin bid were investigated in a randomised, single blind cross-over study. Prior to the start of the three therapeutic phases subjects underwent endoscopic examination to exclude gastro-duodenal mucosa lesions. On day 14 of therapy 2 hours after the application of the last fluoride dose subjects underwent endoscopy again. The 14 days administration of Ossiplex retard, Mono-Tridin und Ossin led to gastro-duodenal mucosa lesion scores of 0.42 +/- 0.26; 1.50 +/- 0.54 and 2.08 +/- 0.71 (mean +/- SEM) respectively. These differences were statistically significant when comparing Ossiplex retard vs Ossin (p less than 0.05), but not Ossiplex retard vs Mono-Tridin. Regarding the number and the severity of lesions the differences between the gastro-duodenal mucosa damaging potency of the three fluoride preparations were also evident. With Ossiplex retard only in three subjects petechiae (n = 1) and antral erythemas (n = 2) were observed. Under Mono-Tridin and Ossin, however, a higher grade of lesions i.e. erosions and an ulcer were seen endoscopically. This study shows that the slow release fluoride preparation Ossiplex retard demonstrates a lower gastro-duodenal mucosa damaging potency when compared to the other fluorides Ossin and Mono-Tridin. There was no relationship between serum fluoride concentrations and the grade of gastro-duodenal mucosa lesions.

Adult↗
PubMed1992

Clinical and biochemical characterization of syndromes associated with defects of the insulin receptor.

During 3 years of collaboration we have detected 13 patients with insulin resistance syndromes among the 800 patients referred to our genetic counseling center for diagnosis during that time. It represents about 1.5% of all diagnostic problems of our genetic counseling center. Thus it seems to us that insulin receptor disorders are not as rare as previously appreciated. We describe here the clinical and biochemical findings of four of them as well as characteristics of disorders of insulin receptors. On cellular level these four patients represents the full scale of insulin receptor defects and demonstrate genetic heterogeneity of these disorders.

Adolescent↗
PubMed1991

[Pravastatin, cholestyramine and gemfibrozil in long-term therapy of primary hypercholesterolemia. An open randomized comparative study].

In this open controlled clinical trial the lipid-lowering effect, the tolerance and clinical safety of the new hydrophilic HMG-CoA reductase inhibitor pravastatin and cholestyramine were compared in the treatment of 45 patients with primary hypercholesterolaemia over a period of 16 weeks. Following a dietary lead-in of six weeks, patients were randomized at a ratio of 3:2 to receive either pravastatin 10 mg b.i.d. or cholestyramine 8 g b.i.d. The dose of pravastatin was increased to 40 mg per day after eight weeks of treatment and after 16 weeks cholestyramine 8 g b.i.d. was added. Two thirds of the patients in the cholestyramine group were switched to gemfibrocil 900 mg. At the end of the 48 week treatment period the mean reduction rates of total cholesterol, LDL-cholesterol and triglycerides for the pravastatin combination compared to cholestyramine (in brackets values for gemfibrocil) were -30, -35 and -17% versus -17 (-19), -25 (-22) and +27 (-24)%. Pravastatin lead to an increase of the HDL concentration of approximately 8%, gemfibrocil to approximately 13%, whilst cholestyramine alone did not change this lipid fraction. The reduction of total cholesterol and LDL-cholesterol was associated with a decrease in the apolipoprotein B concentration. However, the apolipoprotein AI and AII levels remained unchanged. Due to the absence of clinically relevant side effects and laboratory abnormalities coupled with the excellent compliance in this study, pravastatin proved to be a convincing therapeutic alternative to cholestyramine and gemfibrocil. The combination therapy of pravastatin and cholestyramine offers a potentially highly efficacious and safe therapeutic regimen for the future.

Adult↗
PubMed1991

Duoderm application on scalp donor sites in children.

In a search for an invisible skin donor site and a comfortable dressing for the donor site, a study was designed in which the scalp was used as the donor site and Duoderm was applied as the dressing. The study contained 18 children with minor burns. A Duoderm dressing on scalp donor sites showed a normal healing time. In using the scalp as a donor site the patient can be mobilized very quickly after the operation and the scar is hidden and invisible 1 month postoperation.

Bandages, Hydrocolloid↗
PubMed1991

[Acidity profile in humans after multiple oral administration of hydrotalcite].

Acid Suppression Profile of Hydrotalcite in Man. In this randomized, double blind, placebo-controlled cross-over study, the effect of hydrotalcite (CAS 12304-65-3, Talcid), 2 tablets qid (neutralizing capacity 122 mmol) on intragastric 24-h acidity was investigated. 12 healthy male and female volunteers were administered hydrotalcite, 2 tablets qid, or placebo on 2 study days, in each case at 10, 15, 20 and 23 h. Daytime (8-22 h) and nighttime (23-7 h) intragastric H+ concentrations (mmol/l) were significantly reduced by hydrotalcite compared with placebo. The following inhibiton rates were obtained: daytime 37.4%, nighttime 31.5% (p less than 0.05). During the 2-h periods immediately after oral application of hydrotalcite or placebo inhibition rates of up to 65% were observed. These results suggest that hydrotalcite may have also antiulcer activity like other antacids which are used in the treatment of peptic ulcer disease in low daily neutralizing capacities (120-280 mmol/die).

Administration, Oral↗
PubMed1990

[Treatment of hyperlipoproteinemia in patients with diabetes mellitus].

In a large percentage of cases, diabetes mellitus leads to hyperlipidemia. In addition to the diabetes-related secondary hyperlipidemias, all types of primary disturbances of lipid metabolism can also be observed in diabetics. Depending upon the degree of severity and type of metabolic disorder presenting, not only suitable dietetic treatment, but also the various lipid-lowering drugs, fibrates, nicotinic acid, probucol, cholestyramine and the HMG-CoA reductase inhibitors should be introduced into therapy. As in all groups with an elevated coronary risk, strict management of the lipid levels is mandatory in diabetics, too.

Combined Modality Therapy↗
PubMed1990

Gastric aspiration technique for pH recording: a critical evaluation of this method.

The most often used methods for the measurement of intragastric acidity are repeated mostly hourly aspirations of gastric contents or continuous pH measuring with an electrode. Intragastric pH, volume of aspirated gastric juice and total acid secretion have been tested over relatively short periods of time (2-12 h) and through an entire 24-hour period. Nearly every clinical antiulcer drug which neutralizes acidity or inhibits acid secretion has been investigated with this method. pH monitoring with the gastric aspiration procedure is a reliable and reproducible method. There is a remarkable global agreement in the results. While pH electrodes provide an alternative means of measuring pH, they have the disadvantage of not allowing measurement of volume and/or acid secretion.

Anti-Ulcer Agents↗
PubMed1990

[Effective prevention of piroxicam-induced lesions of the gastric mucosa with nizatidine].

12 healthy volunteers participated in this single-blind, randomized, cross-over study. All subjects were given Piroxicam 20 mg mane on three different 14 days treatment periods in the presense of Nizatidine 150 or 300 mg bid and placebo respectively. Only subjects without endoscopically revealed gastroduodenal lesions were enrolled into the study. Endoscopy was repeated at day 14 of therapy. Between treatment periods a 2 weeks wash out phase was interposed. The gastroduodenal lesion score was the following: score 0 = no injury, score 1 = erythema, score 2 = less than or equal to 9 lesions, score 3 = greater than or equal to 10 lesions (petechiae/erosions), score 4 = ulcer. The mean lesion score with Piroxicam averaged 1.5 +/- 0.35 (+/- SEM) when placebo was coadministered. The mucosal lesion scores were reduced to 0.17 +/- 0.08 and 0.42 +/- 0.19 (+/- SEM) when Nizatidine 150 or 300 mg bid was given concurrently. This protection afforded by Nizatidine was significant when compared with placebo (p less than 0.01). The difference between the two Nizatidine doses, however, did not reach statistical significance. Our data suggest that Nizatidine markedly improves the gastroduodenal tolerability of Piroxicam.

Adult↗
PubMed1990

[Transient medium- and deep-tone hearing disorders following spinal anesthesia].

In a prospective study, 100 patients who underwent general surgical or urological operations under spinal anesthesia were examined to determine whether there was a relation between the anesthesia and postoperative hearing loss. Audiograms were performed preoperatively and as the 1st, 2nd, 3rd, and 5th postoperative days. It was found that 16 patients had impairment of hearing. The average ages of these patients were similar to those of the total population. The hearing loss was typical: only the frequencies between 125 and 2000 Hz were affected. It began on the 2nd day after spinal anesthesia and disappeared within 3 days without special therapy. The cause of this typical hearing loss after spinal anesthesia is a drop in cerebrospinal fluid pressure transmitted to the perilymph via the cochlear aqueduct. The change in the endoperilymphatic pressure difference results in a change in the oscillation of the basilar membrane. Because 16% of patients may suffer hearing loss after spinal anesthesia, it seems reasonable from a medicolegal point of view to explain the possibility of defective hearing to the patient.

Adult↗
PubMed1990

[Esthesioneuroblastoma--treatment of recurrences using the remote-control afterloading technic. A case report].

At the Radiological Hospital of the Heidelberg University, one patient with a local recurrence of an esthesioneuroblastoma situated on the left-hand side of the skull base was treated between February 11 and March 18, 1986, by an afterloading contact therapy with curative intent. After preceding surgery and percutaneous radiotherapy, repeated local recurrences and locoregional lymph node metastases had occurred. The contact therapy was performed after adjusting an individual face mask in which the afterloading probe was placed and brought into its position in the tumor region. The irradiation scheme was based on the transformation of the source coordinates form the stereoscopic X-ray localization system into the coordinate system of the computed tomogram by means of X-ray tight reference points. The irradiation planning by computed tomography allows to optimize the arrangement of sources within the tumor region. The principles of the method as well as the treatment result are presented.

Brachytherapy↗