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Biomedical subjects

M Habedank

Publications and source records attributed to M Habedank.

34 records · Page 2Linked to original sources
PubMed1977

[Children of mothers with phenylketonuria (author's transl)].

Microcephaly and considerable motor and mental retardation occurred in two non-phenylketonuric children of an untreated mother with phenylketonuria. The cerebral damage of the children must be considered the consequence of the maternal metabolic disorder. Since the first phenylketonuric children who were treated on strict diet are now reaching the age of marriage and pregnancy, the problem of maternal phenylketonuria is becoming topical. Published reports indicate that of 72 well documented cases with a maternal phenylalanine level above 200 mg/1 (1210 mumol/1) 39 offspring had microcephaly, in 33 intra-uterine growth had been retarded and in 25 there are cerebral palsy and seizures. Almost all had mental retardation. At the same time there have been reports about three normal children whose mothers had kept to a phenylalanine-low diet during their pregnancy.

Adolescent↗
PubMed1976

The 18 p-syndrome. Report of four cases.

Four children, two girls and two boys, were found to have a short arm deletion of chromosome No. 18. Three of them exhibit a typical dysmorphy of the face showing retraction of the midface, broad-based, flat nose, hypertelorism, epicanthus, "carp mouth", big, protruding, and low set ears, as well as a variable number of Turner-like features, failure of growth, mental retardation, and muscular hypotonia. A newly born child, who died at 2 days of age exhibited severe brain defects of holoprosencephalic series. The clinical and cytogenetic findings are compared with the reviewed data of the 18 p deletion. The hypothesis of "gene-dosis compensation" is discussed in order to explain the variable phenotypical expression of 18 p-syndrome as there is obviously to correlation between the extent of the deficiency and the expression of malformations.

Abnormalities, Multiple↗
PubMed1976

GD (--) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical, genetic, biochemical aspects.

A deficient G-6PD variant was discovered in 4 males of one family from northwestern Germany. Five generations of this family could be studied. The deficient G-6PD was a new variant, called "Gd (--) Aachen". Its main characteristics are the following: severe enzyme deficiency in erythrocytes (3% of normal), contrasting with an almost normal activity in leukocytes; normal molecular specific activity (i.e., normal ratio enzyme activity/cross-reacting material); slow mobility in starch gel electrophoresis (92-94% of normal); increased Michaelis constant for glucoes-6-phosphate (60-70 muM) and NADP+ (20-25 muM); decreased inhibition constant by NADPH with respect to NADP+ (7 muM); increased inhibition by ATP; normal utilization of the substrate analogues; slightly biphasic pH curve; thermal instability, and normal activation energy of the enzymatic reaction. The relationships between the hematologic disorders (severe and frequent hemolytic crises) and the unfavorable kinetic modifications are discussed.

Adult↗
PubMed1976

[Antenatal diagnosis of fetal sex by detection of Y-chromatin containing cells in maternal blood (author's transl)].

The blood of 100 pregnant women was screened to detect Y-chromatin containing cells of the fetus for prenatal sex-determination. Obtaining 15% false predictions the previous rate of wrong diagnoses could not be reduced significantly. Studying the frequency of fetal leukocytes in the maternal circulation, a significant increase during the pregnancy could not be found. In early pregnancy lymphoid cells containing Y-chromatin can be found first in the 7th week and granulocytes in the 10th week. The prenatal fetal sex-determination from 13 pregnant women was done by chromosome studies, too. Their rate of false diagnoses was 0%. Screening the Y-chromatin containing cells of 13 women, who had given birth to a male child within the last 5 years, we were able to establish a survival of fetal lymphocytes in the maternal circulation within 25 months. An increase in fetal cells according to the length of time the cells were cultured, could not be detected.

Female↗
PubMed1975

Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.

A boy with both Down's and Sturge-Weber's syndrome was found to have a partial trisomy 21 as a consequence of a familial translocation t(3p-;21q+) which is not reciprocal. Judging from the structure of the involved chromosomes studied by banding and photometrical techniques, the loss of relatively large material of 21q is to be suggested. The meiotic segregation appears to depend on the involved 3p segment and not on the involved centromere of No. 21 as actually expected. The pedigree of the family shows 6 balanced carriers through 3 generations in addition to the propositus. The risk of having offspring with Down's syndrome obviously concerns female carriers in the first place, whereas the male carriers rather produce balanced carriers. Of the additional Sturge-Weber's syndrome there was no cytogenetical cause as expected.

Angiomatosis↗
PubMedDate not supplied

[Increased rate of sister chromatid exchange following therapy of acute lymphoblastic leukemias and non-Hodgkin lymphomas in childhood].

Sister chromatid exchanges rates (SCE) were studied in peripheral blood lymphocytes of 10 patients with acute lymphoblastic leukaemia (ALL) or leukaemic transformed non-Hodgkin-lymphomas (NHL) and in lymphocytes of 10 healthy juvenile donors (control). Following treatment the patient group has been in continuous complete remission for 11 months on the average. In the number of SCE's significant differences were found: 10,90/metaphases in the patients versus 7,56/metaphases in the controls. These results significantly show a long time influence of the treatment on the SCE rates, possibly inducing chromosome aberrations.

Adolescent↗