Biomedical subjects

P Wieacker

Publications and source records attributed to P Wieacker.

78 records · Page 5Linked to original sources

PubMed1980

Assignment of the gene coding for human catalase to the short arm of chromosome 11.

Human and murine catalases can be separated electrophoretically as single bands of different mobility. In man-mouse somatic cell hybrids, however, detection of human catalase is precluded by the complexity of banding patterns resulting from interference of a catalase-modifying enzyme activity. We have identified human catalase in hybrid clones by Laurel electrophoresis employing a specific anti-human catalase antibody, and by exploiting heat stability differences. Catalase co-segregates with LDH A and is probably located on the short arm of chromosome 11.

Animals↗

PubMedDate not supplied

[Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)].

We report on a 21 month old boy with congenital anomalies and a trisomy of the short arm of chromosome 4 as result of a maternal translocation 4/8 with meiotic 3:1 segregation. Karyotype/phenotype correlation is compared with other reported cases and discussed in a context of nearly pure trisomy 4p.

Chromosome Segregation↗

PubMedDate not supplied

[Multiplication of chromosomes and primary leucocyte number in childhood ALL and hyperdiploid karyotype].

In the blast cells of children with acute lymphoblastic leukemia (ALL) more than 50 chromosomes can be observed in a quarter of cases. As a rule these children have a good prognosis. However, some of these patients develop a relapse of their basic disease. There is only poor information about the significance of distinct additional chromosomes for the prognosis. The white blood cell count (WBC) at the time of diagnosis is a further very important prognostic factor in childhood ALL. Therefore we compared the relation between trisomy of distinct chromosomes and the initial white blood cell count of 41 children with common ALL and hyperdiploid karyotype. The modal chromosome number ranged from 50 to 60 chromosomes. Most frequently, the chromosomes X, 4, 6, 8, 10, 17, 18 and 21 were multiplied. Additionally, in 25 of the 41 cases structural chromosome aberrations were observed. The average WBC was estimated as 9.6 Gpt/l with a range from 1.8 to 41.5 Gpt/l. The initial WBC was slightly increased in patients with the additional chromosome X, 6, 11, 12 or 19 and distinctly decreased in children with the additional chromosome 8 or 9 in their hyperdiploid blast cells. No patient with an additional Chromosome 9 showed a WBC higher than 10 Gpt/l and only 2 out of the 12 children with an additional chromosome 8 revealed an initial WBC higher than 10 Gpt/l. Additional structural chromosome aberrations were without influence on the WBC.

Adolescent↗

PubMedDate not supplied

Genetic causes of male infertility.

Male infertility has often been ascribed to infections, immunologic factors, chemical insults or malformations. About 10% of infertile males have severe defects in sperm production. Lately, research has focused on possible genetic aetiologies. In this review genetic causes of male infertility are discussed. For pragmatic reasons three groups have been defined. In the first group, disorders of sexual differentiation associated with male infertility are considered. In the second group, male infertility is discussed in a context of some genetic diseases. In the third group, genetic causes for isolated defects of sperm production and function are reported.

Chromosome Aberrations↗

PubMedDate not supplied

Monthly administration of the LH-RH analogue decapeptyl for long-term treatment of ovarian dysfunctions and estrogen-dependent disorders.

The ovarian function of 11 patients suffering from estrogen-dependent disorders and ovarian dysfunction was suppressed by monthly administrations of an analogue of luteinizing hormone-releasing hormone (LH-RH). During the initial 11 to 18 days of treatment, the LH-RH analogue Decapeptyl was subcutaneously injected daily, followed by intramuscular administration of the peptide encapsulated in biodegradable microspheres at 30-day intervals over a 13- to 35-week period. After an initial increase on day 1 of treatment, serum levels of both LH and FSH declined, but did not reach hypogonadotropic values. The pituitary response in the release of both LH and FSH by a LH-RH bolus injection was almost completely suppressed during the treatment course. 17 beta-Estradiol serum levels decreased into the castration range within 9.1 +/- 4 days and remained low in 92% of the values estimated. In one patient, pretreatment mean testosterone levels on the order of 1.9 ng/mL were suppressed to normal within 14 days and remained low under therapy. Seven out of the 11 patients benefited from this therapy. In conclusion, the treatment with Decapeptyl in a slow-release formulation is an effective and suitable approach for the long-term suppression of ovarian function in estrogen-dependent disorders and ovarian dysfunctions.

Bone Neoplasms↗

PubMedDate not supplied

[Polyhydramnios in congenital myotonic dystrophy].

A case of hydramnion by congenital myotonic dystrophy is presented. By a 31 years old primipara typical causes of hydramnion as fetal malformations, immunologic or non-immunologic hydrops, diabetes mellitus or intrauterine infections could be excluded. Because of a severe fetal dystrophy with imminent asphyxia a caesarean section has been performed in the 35th. week of pregnancy. The newborn showed all clinical symptoms of congenital myotonic dystrophy and died after four weeks in a respiratory distress. A muscle biopsy of the m. quadriceps confirmed the diagnosis. EMG examination of the parents revealed a conductoring state of the mother. Possible causes of "idiopathic" hydramnion and possibilities of prenatal diagnosis of congenital myotonic dystrophy are discussed.

Female↗