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Biomedical subjects

D Ioan

Publications and source records attributed to D Ioan.

34 records · Page 2Linked to original sources
PubMedDate not supplied

Three women with 45,X/46,XX mosaic and multiple spontaneous abortions.

One hundred couples in whom the females had experienced multiple spontaneous abortions were studied. In this series three women with 45, X/46,XX were observed. The paper discusses the significance of this observation pointing out to the fact that these women run an increased risk of abortion of giving birth to babies with Turner's syndrome.

Abortion, Habitual↗
PubMedDate not supplied

Down's syndrome. I. Cytogenetics.

A number of 107 children with clinical diagnosis of Down's syndrome have been studied. In 80% of the cases the parents have been cytogenetically investigated, too. Of these, 82.2% (88 cases) had free trisomy, 9.4% (10) had 46/47 + 21,4.7% (5 cases) had 14/21 translocation, 1 case (0.3%) had 21/21 translocation, one case translocation in inverse tandem, one case had iosochromosome 21, one case had 48.XXY + 21. These observations may be of help in establishing the prophylaxis of the syndrome, i.e.; 1. Cytogenetic investigation of all children suspect of having Down's syndrome, and in the case of translocation, of their parents as well. In the case of hereditary translocations it is recommended that the whole kinship be studied; 2. Monitoring of pregnancies of mothers over the age of 35 seems necessary.

Adult↗
PubMedDate not supplied

Down's syndrome 47, XX,+21 with agonadism.

A girl with 47, XX,+21 Down's syndrome presenting labio-scrotal fusion and clitoral hypertrophy is reported. Anatomo-pathologic examination of the patient revealed the absence of the gonads and rudimentary Fallopian tubes. Botal's orifice was also present. This association, the first to be encountered so far, seems fortuitious.

Chromosome Mapping↗
PubMedDate not supplied

Familial Down's syndrome.

Investigation of an intensely consanguinized family in which three children were born with Down's syndrome (in one of them the diagnosis was uncertain) suggests the existence of a gene that favours chromosomal non-disjunction. In the same family there were two children with multiple malformations and two with neoplasia.

Abnormalities, Multiple↗
PubMedDate not supplied

Turner's syndrome with sympathoblastoma.

A case of Turner's syndrome clinically and cytogenetically diagnosed in a 15-year old girl is reported. At age 4 the girl was hospitalized for renal malformations (doubling of the urethra and its ectopic opening). Laparatomy revealed a small tumoral formation which was removed. The diagnosis established anatomo-histologically was of sympathoblastoma. Since the tumor is genetically conditioned by an autosomal mutation, association of the gonosomial anomaly and sympathoblastoma is supposed to be fortuitious though it is not improbable that the tumor be the result of an embryonar disorder favourized by the chromosomal anomaly.

Adolescent↗
PubMedDate not supplied

Mutagenic effect of 131I in the mouse assessed by the transplacentar micronuclei test.

The incidence of chromosomal aberrations induced by 131I in the mouse foetus was assessed using the transplacentar micronuclei test (the incidence of the micronuclei in foetal liver). For comparison the standard micronuclei test was applied to the maternal bone marrow. A distinct quantitative difference was found with respect to the incidence of micronuclei in the foetus and the mother in response to doses of 131I as low as those used in clinical investigation. The less marked mutagenic effect of 131I on the foetus may be accounted for by the massive concentration of 131I in the mothers' thyroid and its increased renal clearance. A protective role might be also played by the placenta.

Animals↗
PubMedDate not supplied

The mutagenic effect of carbimazol and methylthiouracil detected by the transplacentar micronucleus test.

The mutagenic effect of carbimazol and methylthiouracil on mice fetal blood in the 15th and 16th day of intrauterine life, as compared to the effect on maternal bone marrow and control animals, was studied using the micronucleus test. The incidence of micronucleated cells was significantly higher in the fetal blood than in the maternal bone marrow. The finding demonstrates that the method of transplacentar mutagenesis is a reliable test for estimating the mutagenic risk of such drugs as carbimazol and methylthiouracil in current therapeutical use.

Animals↗
PubMedDate not supplied

De novo balanced translocation: 46, XX, t(13;20)(q34;p 11).

The authors present a family in which the father has brachymetacarpy and brachymetatarsy and the mother has a 13/20 translocation. A baby was born with multiple malformations similar to the trisomy syndrome for the short arms of chromosome 20. The genetic consequences of the translocation are discussed.

Chromosome Aberrations↗
PubMedDate not supplied

The timing of ovulation by a method of direct basophil cells count.

The variation of the basophil cells number during the menstrual cycle was studied by the method of Shelley and Parnes, slightly modified. The study comprised 29 women diagnosed as primary or secondary amenorrhoea (first group) and 38 women with normal menstrual cycle, twenty of them being fertile and 18 diagnosed as secodary sterility (second group), including also two women in the second month of pregnancy. The radioimmunological measurement of luteinizing (LH) and follicle-stimulating (FSH) hormone was applied for the second group. The data obtained on 34 women of the second group showed the precipitous decrease of the number of basophils from the level of 20--50/mm3 in the follicular phase, or even their disappearance. This decrease corresponded to the LH increase. Moreover, the morphologic examination of the basophils during the menstrual cycle allowed to classify these cells into three categories: intact, partially degranulated, and firing, the number of the latter type increasing on the day of ovulation at the expense of the first two types.

Adult↗