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Biomedical subjects

C Maximilian

Publications and source records attributed to C Maximilian.

At least 73 records · Page 4Linked to original sources
PubMedDate not supplied

Zinc and copper in plasma and erythrocytes of Down's syndrome children.

The concentration of zinc and copper in the plasma and the erythrocytes of 24 children with Down's syndrome was measured and compared with the values in a control group of normal children. Zinc and copper were determined in this biologic material by flame atomic absorption spectrophotometry. A significant (p less than 0.001) decrease of the plasma zinc content well as an increase of copper (p less than 0.024) and zinc (p less than 0.001) in the erythrocytes of Down's syndrome patients were found. The possible mechanisms of these changes are discussed.

Adolescent↗
PubMedDate not supplied

Leprechaunism: report of two cases and review.

Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Extra-small marker chromosomes in couples with reproductive failure.

From a pre-selected series of couples with reproductive failure, the authors are presenting 4 couples in which one of the members has an extra marker chromosome in mosaic with a normal line. The relationship between the caryotype and the reproductive failure of these couples is discussed.

Chromosome Aberrations↗
PubMedDate not supplied

Cytogenetic investigation in 300 couples with recurrent fetal wastage.

A series of 300 couples with reproductive failure, i.e. 100 couples with a history of 2-4 spontaneous abortions (lot 1) and 200 couples with abortions and one or several dead plurimalformed children (lot 2) were cytogenetically investigated. The incidence of major chromosomal aberrations was 7% (lot 1) and 5.5% (lot 2) and minor aberrations 13% (lot 1) and 5% (lot 2). The mean percentage of chromosmal aberrations in the 300 couples was 6.03%, a figure which is close to the one reported in the literature of the recent years, i.e.6.1%.

Abortion, Habitual↗
PubMedDate not supplied

The "cat eye" syndrome--report of a case with hypothyroidism.

Clinical, genetic and endocrine findings in a male patient aged 27, diagnosed as a "Cat Eye" syndrome bearer are presented. Clinically the patient shows: moderate psychic retardation, high forehead, epicanthus, strabismus, microretrognathism, large, low inserted ears, kypho-scoliosis, genu valgum; mild hypothyroidism. Cytogenetic examination reveals the presence of an additional small acrocentric chromosome.

Adult↗
PubMedDate not supplied

A radioimmunoassay system for LH based on the antigenic similitude of LH with HCG: methodology and applications.

A double antibody radioimmunoassay (RIA) system for LH (LH-IEP Kit) was developed using the antigenic similitude of LH with HCG. The first antibody (Ist Ab) is rabbit anti-HCG serum, initial dilution 1:200 000. The tracer is 125I-HCG (code MJ-14 Swierk Poland). The standard curve is calibrated with the reference preparation hLH-Ist-IRP 68/40 kindly offered by WHO. The IInd Ab is pig anti-rabbit IgG serum. The incubation conditions: volume-0.3 ml; time-24 hrs with Ist Ab and 24 hrs with the IInd Ab at ambient temperature. The sensitivity of the RIA system for LH is 1.5 mIU/ml. To validate our RIA system the LH was measured in the serum samples collected from 9 women during the menstrual cycles, from 2 boys during the GnRH test, from 2 amenorrheic women and from 20 children, adolescents and adults with miscellaneous pathologies. In all these samples, parallel measurements of LH and FSH were performed using DDR commercial RIA Kits-SSW. It is to be mentioned that the LH-RIA Kit-SSW is not completely homologous, the Ist Ab being rabbit serum anti-HCG. The results obtained during 4 menstrual cycles, in which the LH peak is observed around the mid point of the interval are: follicular phase 17.92 +/- 5.58 mIU/ml (means +/- SD) with LH-IEP-Kit and 5.51 +/- 2.77 mIU/ml with the LH-SSW-Kit, peak: 26.07 +/- 22.13 mIU/ml and 9.13 +/- 5.60 mIU/ml respectively; luteal phase: 12.55 +/- 5.46 mIU/ml and 3.4 +/- 2.38 mIU/ml, respectively. The LH values observed by the two kits through all 9 menstrual cycles are well correlated ("r" values in the range 0.7-0.9) but high discrepancies were observed in the remaining 3 cycles ("r" between 0.07 and 0.6). These discrepancies as well as those observed in some adolescents with genetic anomalies and in a patient at climacterium are suggesting that the two LH-RIA systems measure not only a common molecular area but also different areas of the LH circulating molecules.

Adolescent↗
PubMedDate not supplied

Trisomy 8 syndrome. A report of 2 cases.

Two new cases of trisomy 8 mosaicism are reported. Both patients present the "evocative facial traits" of trisomy 8; large square face, everted lower lip, deep skin furrows on the palms and soles, joint rigidity and psychomotor retardation. The whole literature on trisomy 8 is reviewed.

Abnormalities, Multiple↗
PubMedDate not supplied

The Wolf-Hirschhorn syndrome. New endocrine data.

A little girl with the Wolf-Hirschhorn syndrome showing a characteristic essential insomnia was examined clinically, genetically and hormonally. The values of arginin-vasotocin (AVT) implied in producing paradoxical sleep were normal. The relationship between AVT and insomnia is discussed.

Child, Preschool↗
PubMedDate not supplied

47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.

A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.

Abnormalities, Multiple↗
PubMedDate not supplied

Partial 9p monosomy--a case with hypothyroidism.

A 4-yr-old boy with psycho-motor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with thickened lower lip and long filiform fingers is presented. Cytogenetically, the boy presents a "de novo" terminal 9p deletion. Complex endocrine exploration reveals the presence of hypothyroidism.

Abnormalities, Multiple↗
PubMedDate not supplied

[Mucopolysaccharidosis].

Explore the source record for details and available documents.

Carbohydrate Metabolism, Inborn Errors↗
PubMedDate not supplied

Transsexualism; new observations.

Ten cases of transsexualism have been studied. All the patients present gonadal lesions, modifications of the morphotype and small hormonologic anomalies. It is supposed that the gonadal lesions are frequently associated with this psycho-behavioural disorder. Thus transsexualism may be considered a trouble of the whole process of post gonadal sexualization.

Adult↗