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Biomedical subjects

G Mau

Publications and source records attributed to G Mau.

At least 19 recordsLinked to original sources
PubMed1994

"Compensatory" uniparental disomy of chromosome 21 in two cases.

Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21. At a later age the lymphocyte karyotype changed almost completely to 46,XX, but the fibroblast karyotype remained as before. DNA polymorphism analysis described elsewhere indicated that the 46,XX lymphocytes contained two identical chromosomes 21 (isodisomy), in case 1 inherited from the father and in case 2 from the mother. The isodisomy was the result of duplication of a chromosome in mitosis after the loss of the homologous abnormal chromosome ("compensatory isodisomy"). We report here that this cytogenetic mechanism can result in false normal cytogenetic findings. The phenotypes were attributed to the cells with monosomy 21 in case 1 and to the deletion and monosomy of chromosome 21 in case 2.

Adolescent↗
PubMed1991

[Chylous ascites after tumor nephrectomy with retroperitoneal lymphadenectomy].

Chylous ascites is a rare postoperative complication in pediatric surgery. Small numbers of cases are reported from abdominal tumor- and vascular surgery. Following a case report about a 2 year old girl with Nephroplastoma, a review about etiology, course and therapy of described cases in the literature is given.

Child, Preschool↗
PubMed1985

[Mechanical stress of newborn infants caused by incubator transport].

Newborn babies transported in an incubator are obviously exposed to considerable mechanical vibrations. We measured these vibrations with the aim to improve these conditions. The vibrations measured on transportation by R.T.W. ambulance (Daimler-Benz 508 with an "anti-vibration platform") are almost tolerable; however on the K.T.W. ambulance (Volkswagen Type 2) the registered vertical accelerations were much greater and gave an unacceptable level of gravitational forces. Small constructive corrections to the stretcher and the connection between stretcher and incubator lead to a marked decrease in peak acceleration and the value of effective acceleration. We also found that it is of great importance to drive smoothly and that the vibrations are more pronounced with hasty driving. The influence of these vibrations as a possible co-factor in the pathogenesis of intracranial haemorrhage is discussed.

Acceleration↗
PubMed1982

[Vitamin and zinc levels in leukemic children during induction therapy (author's transl)].

In 23 leukemic patients treated according to the West Berlin-protocol, we studied prospectively the plasma levels of the vitamins A (and carotinoids), B1, B2, B6, C, and E, as well as serum zinc values. Blood was drawn on days 0 (before treatment), 15, 29, and 57 of induction therapy. With one exception, plasma vitamin levels did not change significantly during treatment; however, vitamin A increased in the first and decreased in the second phase of induction (p less than 0.01) without clinical signs or symptoms. The serum levels of zinc (p less than 0.05) and the alkaline phosphatase fell continuously from day 0 to 29, but there was no correlation between these two parameters in the same patient. Clinical symptoms of zinc deficiency were not observed. We conclude: 1) That plasma vitamin levels in this limited population are generally unaffected by the underlying malignant disease, the aggressive therapy and altered feeding behaviour, and 2) that the significant decrease of serum zinc does not play a major role in the expression of clinical and biochemical side effects of cytotoxic therapy.

Adolescent↗
PubMed1981

Progestins during pregnancy and hypospadias.

In a sample of 3,602 male newborns we found 33 patients with hypospadias; eight of them were exposed to progestins during early pregnancy. The relative risk for hypospadias after exposure was 1.75 (confidence intervals 0.5 - 4.4). Progestin intake during early pregnancy does not measurably contribute to the incidence of hypospadias in the population studied.

Female↗
PubMed1981

Discitis--a rare early symptom of ankylosing spondylitis.

This case report describes a patient who suffered from backache at the age of 12 years. The initial diagnosis was Scheuermann's disease but repeated examinations showed a progressive discitis, without signs of arthritis of the sacro-iliac joints. There was also a recurring effusion of the left knee. Three years later the clinical and radiological evaluation showed irreversible immobilisation of the dorsolumbar spine, whereas the sacro-iliac joints were mildly affected. Discitis seems to be a rare early symptom of ankylosing spondylitis.

Adolescent↗
PubMed1980

Moderate alcohol consumption during pregnancy and child development.

On the basis of prospectively collected data from 7,525 pregnancies it was examined whether moderate but daily alcohol consumption during pregnancy has consequences for child development during the first 3 years. The women were taken into the study during the first trimester of pregnancy and were seen every 4 weeks. Some 4.7% (353) of the total stated that they drank moderate quantities of alcohol every day; 275 of the 353 pregnant women stopped drinking during the first trimester of pregnancy or for a time, but 78 did not change their drinking habits in general. About 75% of the children were followed up to their 3rd birthday with examinations at birth, 6 weeks, and 9, 18 and 36 months. It was found that in growth and psychomotor development the exposed children did not differ from the control group. The number of minor and major congenital anomalies was not increased. In general, moderate alcohol consumption during pregnancy does not seem to have any markedly adverse influence on the later development of children. However, an upper limit for apparently safe alcohol consumption cannot be given.

Age Factors↗
PubMed1977

Maldescent of the testes--an epidemiological study.

The case histories of 2,362 newborn boys were evaluated for congenital testicular maldescent. These data, obtained from the prospective follow-up study "Pregnancy and Child Development" sponsored by the Deutsche Forschungsgemeinschaft, are discussed in the light of new findings on morphological changes in this disorder. The aetiology of maldescent of testes is considered to be heterogenous and could not be clarified by investigating 26 factors which might be regarded as possible causes of the abnormality. The difficulties in achieving a correct classification of the various forms of maldescended testes are emphasized and are demonstrated by data from this collaborative study. Considering the frequency of non-descent at the ages of 9 months (3.3%), 18 months (2.9%), and 36 months (2.5%), we believe we have found some evidence for spontaneous descent in a proportion of cases during the first 3 years of life. If this is confirmed by proposed new studies, the findings will have to be weighed against the recommendations of the 1974 International Health Foundation that therapy should be performed during the 2nd year of life or earlier.

Age Factors↗
PubMed1977

[Morphological, cytochemical autoradiographic and quantitative studies of the cells in lymphocyte cultures with added tuberculin].

Lymphocyte culture experiments with purified tuberculin showed a transformation of small lymphocytes into medium sized, large and very large basophilic cells. During cell growth RNA synthesis and acid phosphatase activity increased. Some of the very large basophilic cells synthesized DNA. During the first and second day of culture experiment also medium sized and large weakly basophilic cells increased, which have a pale plasma and azurophilic granules. These cells did not synthesize DNA and showed only a low incorporation of 3H-uridine. The results of our experiments indicate a transformation of medium sized and large basophilic cells not synthesizing DNA into weakly basophilic (pale) cells showing azurophilic granules. In contrast to the lymphocyte culture experiments with tuberculin lymphocyte cultures without tuberculin showed no significant increase of medium sized, large and very large basophilic cells and of weakly basophilic cells.

Acid Phosphatase↗
PubMed1977

[Neonatal paresis of the radial nerve due to benign angioleiomyoma (author's transl)].

Report on a newborn with left-sided radial paresis due to a solitary angioleiomyoma in the lateral distal third of the upper arm. The literature does not disclose that this rare benign tumor can produce radial palsy. A palpable soft-part tumor in the new born suggests malignancy. The tumor including the atrophic radial nerve was radically excised. When histology proved it to be benign, a nerve graft with the sural nerve was carried out. After 6 months of electrical and physiotherapeutic treatment partial radial function had returned. In differential diagnosis of radial palsy of the neonate, birthtrauma is a likely cause. Tumors as a cause are rare and are found almost exclusively in adults, due to lipoma, neuroma or ganglia. In the neonate the socalled "idiopathic" radial paresis does not occur and in adults is usually due to the "supinator syndrome".

Arm↗