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Biomedical subjects

N Zöllner

Publications and source records attributed to N Zöllner.

At least 91 records · Page 5Linked to original sources
PubMed1990

Association of DNA-haplotypes in the human LDL-receptor gene with normal serum cholesterol levels.

For the low density lipoprotein receptor (LDLR), many mutations have been characterized which identify this gene as one with an important role in lipid metabolism in patients with familial hypercholesterolemia (FH). Genetic heterogeneity at this locus raises the possibility that the LDLR may also contribute to variation in cholesterol levels in the normocholesterolemic population. We have determined genotypes at the LDLR locus using restriction fragment length polymorphisms (RFLPs) detected with the enzymes StuI, ApalI, PvuII and NcoI in 324 normocholesterolemic individuals from Germany. A significant association (p less than 0.01) was detected between the cutting site for the PvuII RFLP and lower cholesterol levels, and variation associated with this polymorphism explains 3% of the sample variance in cholesterol levels. In family studies we have determined four-RFLP haplotypes of 148 independent LDLR genes and have observed 9 haplotypes in the population. Three of these haplotypes containing the cutting site for PvuII are associated with a reduction in plasma LDL-cholesterol levels. Phylogenetic analysis indicates that these three haplotypes are related by evolutionary history, and this suggests that a single functionally important sequence change in the LDLR explains our observations. Our data confirm other reports and strongly suggest that the LDLR locus may be one of those genes involved in determining serum cholesterol levels in the normal population.

Adult↗
PubMed1990

Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism.

We describe the first case of twins with complete APRT-deficiency, indicating homozygosity, and 2.8-dihydroxyadenine stones in both kidneys. The stones were discovered accidentally during a routine abdominal ultrasound examination, and thus the diagnosis of an inborn error of metabolism, was established. In nephrolithiasis caused by an inborn error of metabolism, early diagnosis and therapy are of great importance for prognosis and quality of life.

Adenine↗
PubMed1990

[Comparative measurement of skinfold thickness of the back of the hand with caliper and ultrasound--initial results of a prospective study].

In 110 persons the thickness of the skin on the back of the hand was measured by ultrasound (B-mode) and caliper, and the results were compared. The thickness of the skin measured by ultrasound was statistically lower than measured by caliper. This seems to be due to the better distinguishing of cutis from subcutaneous fat by ultrasound. Both methods revealed reproducible results. Caliper measurement is advantageous because of its simple handling. 10 MHz transducer is also useful for measuring the thickness of the skin.

Adult↗
PubMed1990

Is ultrasound superior to carcinoembryonic antigen (CEA) measurement in recurrent tumor screening of patients with colorectal carcinoma?

Assuming that in the postoperative recurrent tumor screening CEA levels are as important as imaging techniques in elucidating the spread or the recurrence of a tumor, we examined 61 patients with colonic carcinoma. Those patients were operated curatively and were regularly controlled by clinical examination, laboratory, sonographic, endoscopic or radiological methods. In 3 patients there was a local recurrent, in 3 other patients there was a local recurrent and metastases. 8 patients showed sonographic livermetastases only, proved by computed tomography. In 6 patients CEA-levels rose. In 2 patients with sonographically confirmed metastases of the liver, there were neither clinical nor laboratory hints for metastases and the CEA-levels were normal. No one had elevated CEA-levels before detecting metastases. Our results indicate that ultrasound of the liver can detect metastases of colonic tumors earlier than clinical or laboratory sings do. Because of its greater diagnostic security, ultrasound is superior to CEA-measurement in recurrent tumor screening.

Adult↗
PubMed1989

Metabolism of D-ribose administered continuously to healthy persons and to patients with myoadenylate deaminase deficiency.

D-ribose was administered orally or intravenously over at least 5 h to eight healthy volunteers and five patients with myoadenylate deaminase deficiency. Intravenous administration rates were 83, 167, and 222 mg/kg/h, which were well tolerated but oral administration of more than 200 mg/kg/h caused diarrhea. The average steady state serum ribose level ranged between 4.8 mg/100 ml (83 mg/kg/h, oral administration) and 81.7 mg/100 ml (222 mg/kg/h, intravenous administration). Serum glucose level decreased during ribose administration. The intestinal absorption rate of orally administered ribose was 87.8%-99.8% of the intake at doses up to 200 mg/kg/h without first pass effect. Urinary losses were 23% of the intravenously administered dose at 222 mg/kg/h. Ribose appeared to be excreted by glomerular filtration without active reabsorption; a renal threshold could not be demonstrated. The amount of ribose transported back from the tubular lumen depended on the serum ribose level. There was no difference in ribose turnover in healthy subjects and patients with MAD deficiency.

AMP Deaminase↗
PubMed1989

Rapid onset of uricosuria after oral administration of irtemazole, an uricosuric substance.

A single 50 mg dose of irtemazole was given orally to ten healthy male volunteers. The onset of effects was tested. Plasma uric acid began to decrease 15 to 25 min after irtemazole was administrated. Renal uric acid excretion and uric acid clearance increased 10 to 20 min after drug administration. Maximal renal uric acid excretion (mean 197.4 mg/h) and maximal uric acid clearance (mean 78.4 ml/min) were reached after 15 to 55 min. No side effects were observed. The effects of irtemazole occur earlier than those of benzbromarone. The therapeutic effects of long-term therapy remain to be investigated.

Adult↗
PubMed1989

Uricosuric effect of irtemazole in healthy subjects.

Following a single dose of 50 mg irtemazole per os, plasma uric acid levels decreased after 1 h and fell to 53.5% of the original value within 6-12 h. Renal uric acid excretion increased up to 66 mg/h 30 min after drug application and reached its maximum of 151 mg/h 30 min later. Uric acid clearance also increased after 30 min and reached its maximum of 56 ml/min after 60 min. The response of the kidney to irtemazole is faster than to benzbromarone or probenecid. Lowering of plasma uric acid has a shorter-lasting effect than benzbromarone or probenecid. At 24 h after the application of 50 mg irtemazole the decrease of the plasma uric acid was between 15.4% and 30.0%, or 24.7% on average. Three days after the application the basic plasma uric acid levels were reached again.

Administration, Oral↗
PubMed1989

Relapsing poly(peri)chondritis associated with fibrosing alveolar disease and antibodies to pneumocytes type II and Clara cells.

A 62-year-old man with histological confirmed relapsing polychondritis showed chondritis of ears and nose, arthritis, keratitis and a hemolytic anemia. The bronchoalveolar lavage, computed tomography of the thorax and pulmonary function tests disclosed findings compatible with fibrosing alveolar disease. IgG antibodies to alveolar pneumocytes type II and bronchiolar Clara cells were detected by indirect immunofluorescence of human lung tissue. To our knowledge this is the first report of fibrosing alveolar disease in relapsing polychondritis and detection of antibodies to human pneumocytes type II and Clara cells.

Autoantibodies↗
PubMed1989

[Cryptococcus neoformans meningoencephalitis and multiple infections in AIDS].

A 40-year old homosexual AIDS patient recovering from a Pneumocystis carinii pneumonia developed a Cryptococcus neoformans infection with involvement of the central nervous system (CNS) which could be treated successfully with amphotericin B and flucytosine. After a symptom-free interval of 4 1/2 months, a new acute fatal disease of the CNS did not reveal a cryptococcosis relapse but a necrotizing Toxoplasma encephalitis, a cytomegalovirus infection and striking cultural findings of Staphylococcus aureus in all organs examined. Neither by culture nor by histology Cr. neoformans could be detected in the CNS or in the other organs examined. The temporal course of the Cr. neoformans infection and its specific diagnosis are commented. It is demonstrated that (during or after successful therapy of Pneumocystis carinii pneumonia) a specific cultural examination of specimens from the respiratory tract for Cr. neoformans is needed, in order to recognize a Cr. neoformans infection in its primary stage, i.e. before hematogenous dissemination of Cr. neoformans leading to the secondary stage of the infection.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia.

To examine the potential usefulness of restriction fragment length polymorphisms (RFLPs) for diagnosis of familial hypercholesterolemia (FH), we determined the genotype of FH patients and their relatives for the Apa1I, NcoI, PvuII and StuI RFLP of the LDL-receptor gene in a sample of German patients attending the Lipid Clinic in Munich. There was no significant difference in the relative allele frequency between the group of FH patients and controls for any of the four polymorphisms. Using linkage analysis, we could determine the four-RFLP haplotypes of 39 defective and 90 normal LDL-receptor genes in 38 FH families. In our sample, defective LDL-receptor genes occur on 6 different chromosomes determined by the four RFLPs. This suggests that at least 6 different genetic defects may cause FH in this sample. RFLPs of the LDL-receptor gene cannot be used to detect FH in individuals; however, appropriate diagnosis can be carried out in more than 90% of families using linkage analysis and these RFLPs.

Gene Frequency↗