Biomedical subjects
Publications and source records attributed to L Dumitriu.
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.
The influence of aminotriazole (ATA), atrazine (ATZ), prometryne (P) and ATC on T4 to T3 conversion in kidney and liver cell cultures in the presence or absence of cysteine was studied. The experiment was carried out on cell cultures (rat renal cells and human embryo cells) and organotypic cultures (rat liver cells), treated with the above mentioned pesticides in 2 doses each, in the presence of 1 microgram and 10 micrograms T4 in the culture medium. This experiment was reproduced in the same conditions supplementing the culture medium with 30 mg cysteine per 100 ml culture medium. T3 and T4 in the culture medium were measured by RIA. The proteins in the monolayer cultures were also assayed. Cysteine proved to stimulate T4 to T3 conversion at the level of human and rat kidney cells with little variation depending on the pesticide and the dose applied. Between the activities of the human and the rat cells in the presence of the same pesticide, there were clear differences. The latter are also expressed in the values of proteic synthesis taking place in the renal human embryo cells and rat renal cell cultures under the same influences.
Digito-palmar dermatoglyphics in 93 subjects with thyroid cancer (34 males, 59 females) of which 87.1% had folliculo-papillar adenocarcinoma were studied qualitatively and quantitatively. The findings were compared to the dermatoglyphics of 100 males and 100 females from the clinically healthy autochthonous population. The thyroid cancer subjects had a lower total digital ridge count (TDRC) and a reduced number of papillar ridges between the a-d triradii, than the control subjects. The A line showed a more marked transversality in cancer males and a more marked obliquity in cancer females. Qualitative examination showed more patterns in the second interdigital area and a higher incidence of typical and atypical form of sulcus transversus in the cancer group as against the controls. Qualitative and quantitative variations in dermatoglyphics were found with respect to the relation between the anatomo-pathologic form and the A, B, or O blood group. However, this variation is not conclusive enough to support the hypothesis of an association between dermatoglyphics and the blood groups in the A, B, O system on the one hand, and dermatoglyphics and the anatomo-pathologic form of thyroid cancer, on the other.
Determinations of noradrenaline (NA), adrenaline (A), vanillylmandelic acid (VMA), metanephrines (MN), homovanillic acid (HVA) and 3-methoxy-4-hydroxy-phenylglycol (MHPG) were performed in 24 h urine samples of three groups of children: 26 normal children, 7 cases of congenital myxedema (not treated for at least one month) and 8 obese children to whom a short (9-14 days) course of thyroid extract was administered. No sex difference was noted in any group. The results in the control group (mean +/- SE) were as follows: NA 23.8 +/- 2.18 micrograms, A 6.2 +/- 0.35 micrograms, VMA 1.58 +/- 0.22 mg, NM 0.526 +/- 0.079 mg, HVA 1.24 +/- 0.142 mg, MHPG, 1.60 +/- 0.232 mg. The excretion of MHPG was significantly (cor)related to NA (p less than .05) and completely unrelated to the other derivatives. Significant equations and curves were obtained from linear regression analysis of MHPG excretion to age (p less than .025), weight (p less than .025), body surface (p less than .05), and creatinine excretion (p less than .05) but not to height and Quetelet index. No significant change was encountered in both myxedema or thyroid extract-treated obese group in any urinary metabolite determined. It was concluded that in children the urinary MHPG excretion is closely correlated to NA excretion and is linearly dependent on age, weight and creatinine extraction. Thyroid activity seems to have no evident effect on urinary excretion of various catechol metabolites. Suggestion is made that the MHPG (cor)relation(s) found originate(s) in corresponding change(s) of noradrenergic receptor sensitivity within the brain.
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Eighty obese children and adolescents (41 males) aged 4-18 were screened for urinary adrenergic derivatives (NA, A, AVM, MN, MHPG) and the results compared with age- and sex-matched controls. Significantly higher amounts of A (8.1 +/- 0.38 micrograms/24 h), MN (0.327 +/- 0.032 mg/24 h) and MHPG (2.74 +/- 0.192 mg/24 h) were found and significantly linear regression curves of MHPG were plotted against urinary creatinine and NA but not against age, weight and Quettelet index. A subgroup of 26 obese having urinary MHPG over 3 mg/24 h ("high MHPG excretors") revealed significantly greater means of weight Quettelet index, A and NA than the remaining 54--member subgroup ("low MHPG excretors"). It was concluded that in randomly selected obese children and adolescents there are obvious humoral signs of sympathetic nervous system overactivity and, possibly, of adrenomedullary increased tonus and that these manifestations may be due, at least in part, to increased central (encephalic) noradrenergic activity, especially in more overweight patients.
The most frequent clinical manifestations in 100 elderly hyperthyroid patients entered in our study were: weight loss (83%), palpitations (85%), nodular goiter (71%) and tremor (74%). Association of weight loss with anorexia and constipation was found in 6% of the patients. The apathetic form of thyrotoxicosis was present in 2% of our patients. Thyrotoxic atrial fibrillation and thyrotoxic heart disease were found in 42% and 51% respectively.
The value of ultrasounds in diagnosis endocrine disorders and especially in localizing the tumors of the endocrine glands such as the thyroid, parathyroid, ovary and adrenal has been proved. Ultrasounds are also useful in following up the structural changes occurring in these glands after drug or radioisotopic therapy.
With the improvements in the echographic technique achieved over the last 10 years, the echographic diagnosis in ovarian pathology has become more reliable. Understanding of the stages of development of follicles and ovulation has made it possible to control the efficacy of the treatment for infertility in females with ovulation failure, by ovulation inducing drugs and by selecting the best time for fertilization or extraction of the ovum for in vitro fertilization. Echography is at present a screening method for evaluating the gonadal morphologic status in gonadal failure and ovarian tumors.
The authors have studied the reactivity of cold thyroid nodule cells (CN) by comparison with the reactivity of normal thyroid cells (Ty), hot nodules cells (N), Graves' disease cells (G) and cells from the area proximal to cold nodules (TyC), under the influence of increased amounts of T3, TSH, STH, insulin, estradiol and KI present in the culture medium. The experiment lasted for 9-10 days. The study was carried out on monolayer cultures of cells obtained by tripsinization and on organocultures. Proteic synthesis, cytochemical and cytoenzymatic activities in the culture under the influence of the above substances were examined comparatively. After interruption of the treatment, the monolayer cultures were stained with Giemsa and examined by light microscopy. Proteic synthesis and release of Tg, T3 and T4 into the culture medium, were also examined. The organocultures were used in evaluating 125I uptake from the medium under the influence of the treatment. The results showed variation in relation to the tissue and hormone dose applied. It was especially found that TSH and estradiol cause enlargement of CN cell nuclei and an increased number of mitoses and polyploidia which might be premises for possible malignization.
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.
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.
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.
A 26-year-old woman was admitted to the Institute of Endocrinology in Bucharest for evaluation of primary hyperparathyroidism (P-HPT). Anamnesis revealed a 10-year history of nephrolithiasis; peptic ulcer, chronic pancreatitis, cholelithiasis. Eight months previously, she had given birth to a child who had neonatal hypocalcaemic tetany. Investigations revealed the presence of moderate hypercalcaemia, hypercalciuria, hypo-phosphoremia; serum chloride level was above 100 mEq/1, and the chloride phosphate ratio was greater than 33. X-ray films of the abdomen revealed the presence of nephrolithiasis and right nephrocalcinosis. Selenium methyonine scanning, ultrasonography and computerized tomography were negative. On surgical exploration a 2-3 cm parathyroid adenoma was removed from between the trachea and the esophagus.
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.
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Urinary mucopolysaccharides (u MPZ) were determined in 114 patients with thyroid diseases. The values were elevated in 95.8% of patients with Graves' disease with infiltrative ophthalmopathy, and in 66.6% of patients with Graves' disease without clinically manifest infiltrative ophthalmopathy; in the second group of patients we consider that there is a subclinical infiltrative ophthalmopathy. In conclusion, the determination of u MPZ can be considered as a criterion for the diagnosis of Graves' disease in patients with hyperthyroidism without clinically manifest infiltrative ophthalmopathy; in a number of these cases, infiltrative ophthalmopathy may become clinically manifest. For that reason, increased u MPZ can represent a criterion for an eventual delay of an ablative therapy in Graves' disease. It is not a significant statistic difference (p greater than 0.1) between the values of u MPZ in patients with Graves' disease with clinically manifest ophthalmopathy and in those with subclinical infiltrative ophthalmopathy. The thyroid functional status does not influence in any way the values of u MPZ (p greater than 0.1). There is no correlation between the degree of eye protrusion and the values of u MPZ (r = = -0.05)
Authors studied ten cases of folliculo-papillary thyroid carcinoma, using ultrastructural methods and cytochemical techniques for peroxidase and acid phosphatase activities. The most striking ultrastructural features were: disappearance of secretory granules or apical vesicles; nuclei with an irregular shape containing stage I and II inclusions; two types of cells: with dilate endoplasmic sacks filled with a granular material, or rich in closely packed mitochondria, some of them showing dystrophic lesions with round, dense bodies or tightly packed parallel filaments and numerous phagolysosomes. The peroxidase activity was present as black DAB precipitates in the nuclear envelope and sometimes around colloid droplets, or was completely absent from some cells. The acid phosphatase activity was found as unhomogeneous Pb precipitates inside the lysosomes. The ultrastructural and cytoenzymological pattern suggests marked alteration of the synthesis, storage and secretion of the thyroid hormones. Keeping in mind that results of radio-iodine treatment depend mainly on the histologic type of the thyroid carcinoma, the cooperation between radiotherapeutist and pathologist is emphasized.