ABSTRACT
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%.
Subject(s)
Abortion, Habitual/genetics , Chromosome Aberrations , Fetal Death/genetics , Female , Humans , Male , PregnancySubject(s)
Eyelid Diseases/genetics , Infertility, Female , Blepharoptosis/genetics , Eyelid Diseases/blood , Female , Humans , Infant , Male , Pedigree , Sex Factors , Syndrome , Thyroid Hormones/bloodABSTRACT
Basal and post-suppressive dexamethasone (dxm) levels of some urinary androgen metabolites, plasma testosterone (T), 17 hydroxyprogesterone (17 OHP) and of basal serum prolactin were determined in 34 hirsute amenorrheic adolescents aged 13-17 in whom a five day course of bovine pineal extract (4 ml a day i.m.) was instituted. No convincing effect of pineal extract administration on plasma T and 17 OHP and on serum prolactin was detectable in most of pineal-treated patients. Suppressibility to dxm of plasma T and 17 OHP was not a relevant index of both the origin of androgens or the clinical course of the patients.
Subject(s)
Gonadotropins, Pituitary/blood , Hirsutism/blood , Pineal Gland , Steroids/blood , Tissue Extracts/pharmacology , Adolescent , Amenorrhea/etiology , Animals , Cattle , Dexamethasone , Female , Hirsutism/urine , Humans , Prolactin/blood , Steroids/urineABSTRACT
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.
Subject(s)
Chromosomes, Human, 6-12 and X , Trisomy , Abnormalities, Multiple/genetics , Adult , Child, Preschool , Female , Humans , Infant , Karyotyping , MaleABSTRACT
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.
Subject(s)
Chorionic Gonadotropin/immunology , Luteinizing Hormone/blood , Radioimmunoassay/methods , Adolescent , Adult , Animals , Child , Female , Humans , Infertility, Female/blood , Laurence-Moon Syndrome/blood , Luteinizing Hormone/immunology , Male , Menstrual Cycle , Middle Aged , Rabbits , Radioimmunoassay/standardsABSTRACT
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.
Subject(s)
Chromosome Deletion , Chromosomes, Human, 6-12 and X , Hypothyroidism/pathology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child, Preschool , Humans , Hypothyroidism/genetics , Intellectual Disability/genetics , Intellectual Disability/pathology , Male , SyndromeABSTRACT
The radioimmunoassay (RIA) of insulin was performed in the serum and saliva of 27 female patients during the oral glucose tolerance test (OGTT). The patients were divided into two groups: 19 non-diabetic patients and 8 patients diagnosed as impaired glucose tolerance (IGT) disease. In one patient in each group, the OGTT was performed twice at intervals of 3-5 days. The results show that immunoreactive insulin (IRI) is present in saliva and its concentration increases during the glucose stimulation test from 6.48 +/- 1.13 microU/ml (means +/- SEM) in basal conditions at peak values of 45.46 +/- 10.14 microU/ml at 2 hrs after glucose intake. In patients with IGT salivary IRI increases from 5.18 +/- 1.39 microU/ml in basal conditions to peak values of 83.34 +/- 25.85 microU/ml at 3 hrs after glucose administration. Great response variations were observed either inter-individual or intraindividual in both groups of patients. Some patients had unusual high salivary IRI concentration especially in those with gastrointestinal troubles. Further, some hypotheses and experimental models, are advanced, considered useful for the explanation of the physiologic significance of the salivary IRI or of the IRI-like material.
Subject(s)
Glucose Tolerance Test , Insulin/analysis , Peptides/analysis , Saliva/analysis , Adult , Aged , Female , Humans , Hypothyroidism/metabolism , Insulin Antibodies/analysis , Middle Aged , Obesity/metabolism , Radioimmunoassay , SyndromeABSTRACT
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.
Subject(s)
Abnormalities, Multiple/pathology , Intellectual Disability/pathology , X Chromosome , Child, Preschool , Female , Humans , Karyotyping , Phenotype , Sex Chromosome Aberrations/pathology , SyndromeABSTRACT
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.
